From 217e7ed5d1aa950af3c4bbdec04c569cf3ab41e0 Mon Sep 17 00:00:00 2001 From: Zoe May Pendlington Date: Mon, 16 Dec 2024 10:27:04 +0000 Subject: [PATCH] EFO release 3.73.0 --- ExFactor Ontology release notes.txt | 14696 ++----------- efo-base.owl | 6 +- src/ontology/reports/basic-report.tsv | 165 +- src/ontology/reports/edges.tsv | 26749 ++++++++++++------------ src/ontology/reports/synonyms.tsv | 4106 ++-- src/ontology/reports/xrefs.tsv | 2869 +-- src/ontology/version.txt | 2 +- 7 files changed, 18168 insertions(+), 30425 deletions(-) diff --git a/ExFactor Ontology release notes.txt b/ExFactor Ontology release notes.txt index 9eb79c8e..bfa142e8 100644 --- a/ExFactor Ontology release notes.txt +++ b/ExFactor Ontology release notes.txt @@ -11,17 +11,17 @@ \/__/ \/__/ \/__/ EFO - Release Notes -Experimental Factor Ontology version 3.71.0 -Date Released: 15th October 2024 -Class Count: 57,807 +Experimental Factor Ontology version 3.73.0 +Date Released: 16th December 2024 +Class Count: 57,878 Summary: -EFO 3.71.0 includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog. +EFO 3.73.0 includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog. -Number of classes changed: 2799 -Number of classes added: 55 -Number of classes deleted: 9 +Number of classes changed: 386 +Number of classes added: 69 +Number of classes deleted: 6 ---------------------------------- 1. Changes to URIs @@ -37,14625 +37,2359 @@ Number of classes deleted: 9 @Classes new to this version -Class: http://purl.obolibrary.org/obo/MONDO_1040002 -Label(s): PIK3CA-related overgrowth spectrum -+ 'PIK3CA-related overgrowth spectrum' SubClassOf 'overgrowth syndrome' +Class: http://purl.obolibrary.org/obo/MONDO_0035838 +Label(s): idiopathic multicentric Castleman disease ++ 'idiopathic multicentric Castleman disease' SubClassOf 'Castleman disease' + +Class: http://purl.obolibrary.org/obo/MONDO_0007568 +Label(s): aortic aneurysm, familial thoracic 4 ++ 'aortic aneurysm, familial thoracic 4' SubClassOf 'familial thoracic aortic aneurysm and aortic dissection' + +Class: http://purl.obolibrary.org/obo/MONDO_0012371 +Label(s): Noonan syndrome 3 ++ 'Noonan syndrome 3' SubClassOf 'Noonan syndrome' + +Class: http://purl.obolibrary.org/obo/MONDO_0007273 +Label(s): paragangliomas 4 ++ 'paragangliomas 4' SubClassOf 'peripheral nervous system cancer' ++ 'paragangliomas 4' SubClassOf 'central nervous system cancer' ++ 'paragangliomas 4' SubClassOf 'Paraganglioma' ++ 'paragangliomas 4' SubClassOf 'hereditary pheochromocytoma-paraganglioma' ++ 'paragangliomas 4' SubClassOf 'Malignant Urinary System Neoplasm' ++ 'paragangliomas 4' SubClassOf 'adrenal gland cancer' + +Class: http://purl.obolibrary.org/obo/MONDO_0012291 +Label(s): immunoglobulin A deficiency 2 ++ 'immunoglobulin A deficiency 2' SubClassOf 'selective IgA deficiency disease' + +Class: http://purl.obolibrary.org/obo/MONDO_0007094 +Label(s): amelogenesis imperfecta type 1A ++ 'amelogenesis imperfecta type 1A' SubClassOf 'amelogenesis imperfecta type 1' + +Class: http://purl.obolibrary.org/obo/MONDO_0007087 +Label(s): alternating hemiplegia of childhood 1 ++ 'alternating hemiplegia of childhood 1' SubClassOf 'alternating hemiplegia of childhood' + +Class: http://purl.obolibrary.org/obo/PR_000009888 +Label(s): apolipoprotein(a) ++ 'apolipoprotein(a)' SubClassOf 'protein' + +Class: http://purl.obolibrary.org/obo/MONDO_1040001 +Label(s): TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations ++ 'TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations' SubClassOf 'developmental defect during embryogenesis' ++ 'TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations' SubClassOf 'genetic disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_1040022 +Label(s): linkeropathy ++ 'linkeropathy' SubClassOf 'syndromic disease' ++ 'linkeropathy' SubClassOf 'osteochondrodysplasia' ++ 'linkeropathy' SubClassOf 'connective tissue disease' + +Class: http://purl.obolibrary.org/obo/MONDO_0020607 +Label(s): Liddle syndrome 1 ++ 'Liddle syndrome 1' SubClassOf 'Liddle syndrome' + +Class: http://purl.obolibrary.org/obo/MONDO_0700227 +Label(s): ELOVL4-related maculopathy ++ 'ELOVL4-related maculopathy' SubClassOf 'inherited retinal dystrophy' + +Class: http://purl.obolibrary.org/obo/MONDO_0004390 +Label(s): ocular hypotension ++ 'ocular hypotension' SubClassOf 'eye disease' + +Class: http://purl.obolibrary.org/obo/MONDO_0014926 +Label(s): Bardet-Biedl syndrome 22 ++ 'Bardet-Biedl syndrome 22' SubClassOf 'Bardet-Biedl syndrome' + +Class: http://purl.obolibrary.org/obo/MONDO_0014840 +Label(s): agammaglobulinemia 8, autosomal dominant ++ 'agammaglobulinemia 8, autosomal dominant' SubClassOf 'autosomal agammaglobulinemia' + +Class: http://purl.obolibrary.org/obo/MONDO_0014705 +Label(s): craniosynostosis 6 ++ 'craniosynostosis 6' SubClassOf 'isolated oxycephaly' + +Class: http://purl.obolibrary.org/obo/MONDO_0014685 +Label(s): progressive myoclonic epilepsy type 9 ++ 'progressive myoclonic epilepsy type 9' SubClassOf 'progressive myoclonus epilepsy' + +Class: http://purl.obolibrary.org/obo/MONDO_0014565 +Label(s): cataract 43 ++ 'cataract 43' SubClassOf 'early-onset non-syndromic cataract' + +Class: http://purl.obolibrary.org/obo/OBA_VT0000277 +Label(s): heart shape trait ++ 'heart shape trait' SubClassOf 'phenotype' ++ 'heart shape trait' SubClassOf 'characteristic of' some 'anatomical entity' + +Class: http://purl.obolibrary.org/obo/MONDO_0009454 +Label(s): immunodeficiency-centromeric instability-facial anomalies syndrome 1 ++ 'immunodeficiency-centromeric instability-facial anomalies syndrome 1' SubClassOf 'immunodeficiency-centromeric instability-facial anomalies syndrome' + +Class: http://purl.obolibrary.org/obo/MONDO_0014381 +Label(s): cholestasis, progressive familial intrahepatic, 4 ++ 'cholestasis, progressive familial intrahepatic, 4' SubClassOf 'progressive familial intrahepatic cholestasis' + +Class: http://purl.obolibrary.org/obo/MONDO_0014359 +Label(s): pigmented nodular adrenocortical disease, primary, 4 ++ 'pigmented nodular adrenocortical disease, primary, 4' SubClassOf 'primary pigmented nodular adrenocortical disease' + +Class: http://purl.obolibrary.org/obo/MONDO_0014344 +Label(s): congenital heart defects, multiple types, 4 ++ 'congenital heart defects, multiple types, 4' SubClassOf 'congenital heart defects, multiple types' ++ 'congenital heart defects, multiple types, 4' SubClassOf 'familial atrioventricular septal defect' + +Class: http://purl.obolibrary.org/obo/MONDO_0014321 +Label(s): premature ovarian failure 8 ++ 'premature ovarian failure 8' SubClassOf 'inherited primary ovarian failure' + +Class: http://purl.obolibrary.org/obo/MONDO_0012614 +Label(s): intellectual disability, autosomal recessive 6 ++ 'intellectual disability, autosomal recessive 6' SubClassOf 'autosomal recessive non-syndromic intellectual disability' + +Class: http://purl.obolibrary.org/obo/MONDO_0014199 +Label(s): developmental and epileptic encephalopathy, 17 ++ 'developmental and epileptic encephalopathy, 17' SubClassOf 'developmental and epileptic encephalopathy' + +Class: http://purl.obolibrary.org/obo/MONDO_0014155 +Label(s): atrial fibrillation, familial, 13 ++ 'atrial fibrillation, familial, 13' SubClassOf 'familial atrial fibrillation' + +Class: http://purl.obolibrary.org/obo/MONDO_0014113 +Label(s): cardiofaciocutaneous syndrome 3 ++ 'cardiofaciocutaneous syndrome 3' SubClassOf 'cardiofaciocutaneous syndrome' + +Class: http://purl.obolibrary.org/obo/MONDO_0014112 +Label(s): cardiofaciocutaneous syndrome 2 ++ 'cardiofaciocutaneous syndrome 2' SubClassOf 'cardiofaciocutaneous syndrome' + +Class: http://purl.obolibrary.org/obo/MONDO_0014092 +Label(s): schizophrenia 18 ++ 'schizophrenia 18' SubClassOf 'schizophrenia, susceptibility to' + +Class: http://purl.obolibrary.org/obo/MONDO_0011904 +Label(s): seizures, benign familial infantile, 3 ++ 'seizures, benign familial infantile, 3' SubClassOf 'benign familial infantile epilepsy' + +Class: http://purl.obolibrary.org/obo/MONDO_0012835 +Label(s): systemic lupus erythematosus, susceptibility to, 11 ++ 'systemic lupus erythematosus, susceptibility to, 11' SubClassOf 'inherited disease susceptibility' ++ 'systemic lupus erythematosus, susceptibility to, 11' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus' + +Class: http://purl.obolibrary.org/obo/MONDO_0100574 +Label(s): generalized epilepsy ++ 'generalized epilepsy' SubClassOf 'epilepsy' + +Class: http://purl.obolibrary.org/obo/MONDO_0100573 +Label(s): combined generalized and focal epilepsy ++ 'combined generalized and focal epilepsy' EquivalentTo 'generalized epilepsy' and 'partial epilepsy' ++ 'combined generalized and focal epilepsy' SubClassOf 'partial epilepsy' ++ 'combined generalized and focal epilepsy' SubClassOf 'generalized epilepsy' + +Class: http://purl.obolibrary.org/obo/MONDO_0007919 +Label(s): lymphatic malformation 1 ++ 'lymphatic malformation 1' SubClassOf 'lymphatic malformation' + +Class: http://purl.obolibrary.org/obo/MONDO_0100476 +Label(s): lipodystrophy, partial, acquired, susceptibility to ++ 'lipodystrophy, partial, acquired, susceptibility to' SubClassOf 'inherited disease susceptibility' ++ 'lipodystrophy, partial, acquired, susceptibility to' SubClassOf 'predisposes towards' some 'acquired partial lipodystrophy' + +Class: http://purl.obolibrary.org/obo/MONDO_0012430 +Label(s): cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 ++ 'cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2' SubClassOf 'cerebellar ataxia, intellectual disability, and dysequilibrium' + +Class: http://purl.obolibrary.org/obo/MONDO_0011232 +Label(s): migraine, familial hemiplegic, 2 ++ 'migraine, familial hemiplegic, 2' SubClassOf 'familial hemiplegic migraine' + +Class: http://purl.obolibrary.org/obo/MONDO_1010097 +Label(s): DHDDS-related syndrome ++ 'DHDDS-related syndrome' SubClassOf 'hereditary neurological disease' + +Class: http://purl.obolibrary.org/obo/MONDO_1040054 +Label(s): DHDDS-CDG ++ 'DHDDS-CDG' SubClassOf 'congenital disorder of glycosylation' + +Class: http://purl.obolibrary.org/obo/HP_0100829 +Label(s): Galactorrhea ++ 'Galactorrhea' SubClassOf 'Abnormality of the breast' + +Class: http://purl.obolibrary.org/obo/MONDO_0010822 +Label(s): Warburg micro syndrome 1 ++ 'Warburg micro syndrome 1' SubClassOf 'Warburg micro syndrome' + +Class: http://purl.obolibrary.org/obo/MONDO_0100520 +Label(s): NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction ++ 'NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction' SubClassOf 'syndromic disease' ++ 'NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction' SubClassOf 'endocrine system disease' ++ 'NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction' SubClassOf 'genetic disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0013929 +Label(s): autosomal recessive nonsyndromic hearing loss 98 ++ 'autosomal recessive nonsyndromic hearing loss 98' SubClassOf 'hearing loss, autosomal recessive' + +Class: http://purl.obolibrary.org/obo/MONDO_0008822 +Label(s): arthrogryposis, renal dysfunction, and cholestasis 1 ++ 'arthrogryposis, renal dysfunction, and cholestasis 1' SubClassOf 'arthrogryposis-renal dysfunction-cholestasis syndrome' + +Class: http://purl.obolibrary.org/obo/MONDO_0033717 +Label(s): congenital cerebellar ataxia due to RNU12 mutation ++ 'congenital cerebellar ataxia due to RNU12 mutation' SubClassOf 'autosomal recessive congenital cerebellar ataxia' -Class: http://purl.obolibrary.org/obo/MONDO_1040009 -Label(s): TRIP11-related skeletal dysplasia -+ 'TRIP11-related skeletal dysplasia' SubClassOf 'skeletal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_1040015 -Label(s): infectious disease with sepsis -+ 'infectious disease with sepsis' SubClassOf 'infectious disease' - -Class: http://purl.obolibrary.org/obo/MONDO_1040016 -Label(s): cerebral artery stenosis -+ 'cerebral artery stenosis' SubClassOf 'cerebrovascular disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_1040026 -Label(s): metastatic malignant neoplasm in the brain -+ 'metastatic malignant neoplasm in the brain' SubClassOf 'brain cancer' -+ 'metastatic malignant neoplasm in the brain' SubClassOf 'metastatic malignant neoplasm' -+ 'metastatic malignant neoplasm in the brain' EquivalentTo 'metastatic malignant neoplasm' and ('disease has location' some 'brain') - -Class: http://purl.obolibrary.org/obo/MONDO_1040030 -Label(s): GBA1-related Parkinson disease, susceptibility -+ 'GBA1-related Parkinson disease, susceptibility' SubClassOf 'predisposes towards' some 'Parkinson disease' -+ 'GBA1-related Parkinson disease, susceptibility' SubClassOf 'inherited disease susceptibility' - -Class: http://purl.obolibrary.org/obo/MONDO_1040032 -Label(s): EN1-related dorsoventral syndrome -+ 'EN1-related dorsoventral syndrome' SubClassOf 'genetic disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_1040036 -Label(s): IMPG1-related dominant retinopathy -+ 'IMPG1-related dominant retinopathy' SubClassOf 'inherited retinal dystrophy' -+ 'IMPG1-related dominant retinopathy' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_1040037 -Label(s): IMPG1-related recessive retinopathy -+ 'IMPG1-related recessive retinopathy' SubClassOf 'inherited retinal dystrophy' -+ 'IMPG1-related recessive retinopathy' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_1040040 -Label(s): HGSNAT-related retinopathy -+ 'HGSNAT-related retinopathy' SubClassOf 'inherited retinal dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_1040041 -Label(s): FZD4-related exudative vitreoretinopathy -+ 'FZD4-related exudative vitreoretinopathy' SubClassOf 'exudative vitreoretinopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0700282 -Label(s): POLR3-related leukodystrophy -+ 'POLR3-related leukodystrophy' SubClassOf 'leukodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0700277 -Label(s): POLR3B-related disorder -+ 'POLR3B-related disorder' SubClassOf 'genetic disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_1030003 -Label(s): Mycoplasmoides infection -+ 'Mycoplasmoides infection' SubClassOf 'bacterial disease' - -Class: http://purl.obolibrary.org/obo/MONDO_1030015 -Label(s): acquired porphyria -+ 'acquired porphyria' SubClassOf 'porphyria' -+ 'acquired porphyria' SubClassOf 'acquired metabolic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0968955 -Label(s): hypocalcified amelogenesis imperfecta -+ 'hypocalcified amelogenesis imperfecta' SubClassOf 'amelogenesis imperfecta' - -Class: http://purl.obolibrary.org/obo/MONDO_0014508 -Label(s): vitelliform macular dystrophy 4 -+ 'vitelliform macular dystrophy 4' SubClassOf 'adult-onset foveomacular vitelliform dystrophy' -+ 'vitelliform macular dystrophy 4' SubClassOf 'IMPG1-related recessive retinopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0700275 -Label(s): prostate cancer, hereditary -+ 'prostate cancer, hereditary' SubClassOf 'prostate cancer' -+ 'prostate cancer, hereditary' SubClassOf 'genetic disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0700276 -Label(s): POLR3A-related disorder -+ 'POLR3A-related disorder' SubClassOf 'genetic disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0019377 -Label(s): Mycoplasma encephalitis -+ 'Mycoplasma encephalitis' SubClassOf 'infectious encephalitis' -+ 'Mycoplasma encephalitis' SubClassOf 'Mycoplasmoides infection' - -Class: http://purl.obolibrary.org/obo/MONDO_0700280 -Label(s): post-treatment Lyme disease syndrome -+ 'post-treatment Lyme disease syndrome' SubClassOf 'post-bacterial disorder' -+ 'post-treatment Lyme disease syndrome' SubClassOf 'disease arises from feature' some 'Lyme disease' - -Class: http://purl.obolibrary.org/obo/MONDO_1010030 -Label(s): pediatric high-grade glioma -+ 'pediatric high-grade glioma' SubClassOf 'childhood cancer' -+ 'pediatric high-grade glioma' SubClassOf 'malignant glioma' - -Class: http://purl.obolibrary.org/obo/MONDO_1040052 -Label(s): PROM1-related recessive retinopathy -+ 'PROM1-related recessive retinopathy' SubClassOf 'autosomal recessive disease' -+ 'PROM1-related recessive retinopathy' SubClassOf 'PROM1-related retinopathy' - -Class: http://www.ebi.ac.uk/efo/EFO_0022859 -Label(s): Visium CytAssist Spatial Gene Expression, 6.5mm -+ 'Visium CytAssist Spatial Gene Expression, 6.5mm' SubClassOf 'Visium CytAssist Spatial Gene Expression V2' - -Class: http://www.ebi.ac.uk/efo/EFO_0022858 -Label(s): Visium CytAssist Spatial Gene Expression V2 -+ 'Visium CytAssist Spatial Gene Expression V2' SubClassOf 'Visium Spatial Gene Expression' - -Class: http://www.ebi.ac.uk/efo/EFO_0022857 -Label(s): Visium Spatial Gene Expression V1 -+ 'Visium Spatial Gene Expression V1' SubClassOf 'Visium Spatial Gene Expression' - -Class: http://www.ebi.ac.uk/efo/EFO_0022856 -Label(s): feeding problems of newborn -+ 'feeding problems of newborn' SubClassOf 'perinatal disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0022855 -Label(s): ovary atrophy -+ 'ovary atrophy' SubClassOf 'ovarian disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0022854 -Label(s): fallopian tube atrophy -+ 'fallopian tube atrophy' SubClassOf 'fallopian tube disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0022852 -Label(s): conjunctival scar -+ 'conjunctival scar' SubClassOf 'conjunctival disorder' - -Class: http://www.ebi.ac.uk/efo/EFO_0022851 -Label(s): thoracic root disorder -+ 'thoracic root disorder' SubClassOf 'radiculopathy' - -Class: http://www.ebi.ac.uk/efo/EFO_0022850 -Label(s): phantom limb syndrome -+ 'phantom limb syndrome' SubClassOf 'nervous system disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0022849 -Label(s): popliteal nerve lesion -+ 'popliteal nerve lesion' SubClassOf 'peripheral neuropathy' - -Class: http://www.ebi.ac.uk/efo/EFO_0022848 -Label(s): amino-acid transport disorder -+ 'amino-acid transport disorder' SubClassOf 'metabolic disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0022846 -Label(s): 5' STRT-seq -+ '5' STRT-seq' SubClassOf 'STRT-seq' - -Class: http://www.ebi.ac.uk/efo/EFO_0022845 -Label(s): modified STRT-seq -+ 'modified STRT-seq' SubClassOf 'STRT-seq' - -Class: http://www.ebi.ac.uk/efo/EFO_0022844 -Label(s): fecal microbiota transplantation -+ 'fecal microbiota transplantation' SubClassOf 'medical procedure' - -Class: http://www.ebi.ac.uk/efo/EFO_0022843 -Label(s): Singular G4 -+ 'Singular G4' SubClassOf 'high throughput sequencer' - -Class: http://purl.obolibrary.org/obo/GO_0045275 -Label(s): respiratory chain complex III -+ 'respiratory chain complex III' SubClassOf 'part_of' some 'membrane' -+ 'respiratory chain complex III' SubClassOf 'cellular_component' - -Class: http://purl.obolibrary.org/obo/MONDO_1030005 -Label(s): mosaic SMO syndrome -+ 'mosaic SMO syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_1040056 -Label(s): PROM1-related retinopathy -+ 'PROM1-related retinopathy' SubClassOf 'inherited retinal dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_1040055 -Label(s): PRPH2-related retinopathy -+ 'PRPH2-related retinopathy' SubClassOf 'inherited retinal dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_1040053 -Label(s): PROM1-related dominant retinopathy -+ 'PROM1-related dominant retinopathy' SubClassOf 'PROM1-related retinopathy' -+ 'PROM1-related dominant retinopathy' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_1040050 -Label(s): MKKS-related ciliopathy -+ 'MKKS-related ciliopathy' SubClassOf 'ciliopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_1040031 -Label(s): dyneinopathy -+ 'dyneinopathy' SubClassOf 'syndromic intellectual disability' -+ 'dyneinopathy' SubClassOf 'exudative vitreoretinopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_1040010 -Label(s): IRF6-related condition -+ 'IRF6-related condition' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0971004 -Label(s): amyloidosis, hereditary systemic 1 -+ 'amyloidosis, hereditary systemic 1' SubClassOf 'familial amyloid neuropathy' - -Class: http://purl.obolibrary.org/obo/MONDO_1040019 -Label(s): Enterococcus infectious disease -+ 'Enterococcus infectious disease' SubClassOf 'bacterial disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0971063 -Label(s): autosomal dominant dopa-responsive dystonia -+ 'autosomal dominant dopa-responsive dystonia' SubClassOf 'inborn errors of metabolism' -+ 'autosomal dominant dopa-responsive dystonia' SubClassOf 'dopa-responsive dystonia' -+ 'autosomal dominant dopa-responsive dystonia' SubClassOf 'inherited dystonia' - -Class: http://purl.obolibrary.org/obo/MONDO_0971066 -Label(s): megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency -+ 'megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency' SubClassOf 'disorder of folate metabolism and transport' - -Class: http://www.ebi.ac.uk/efo/EFO_0022847 -Label(s): pelvic neoplasm -+ 'pelvic neoplasm' SubClassOf 'neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_0022853 -Label(s): otorrhagia -+ 'otorrhagia' SubClassOf 'disorder of ear' - -Class: http://www.ebi.ac.uk/efo/EFO_0022860 -Label(s): Visium CytAssist Spatial Gene Expression, 11mm -+ 'Visium CytAssist Spatial Gene Expression, 11mm' SubClassOf 'Visium CytAssist Spatial Gene Expression V2' - -Class: http://purl.obolibrary.org/obo/GO_0045259 -Label(s): proton-transporting ATP synthase complex -+ 'proton-transporting ATP synthase complex' SubClassOf 'part_of' some 'membrane' -+ 'proton-transporting ATP synthase complex' SubClassOf 'cellular_component' +Class: http://purl.obolibrary.org/obo/MONDO_0013498 +Label(s): schizophrenia 15 ++ 'schizophrenia 15' SubClassOf 'schizophrenia' ++ 'schizophrenia 15' SubClassOf 'hereditary neurological disease' -Class: http://purl.obolibrary.org/obo/MONDO_1030008 -Label(s): mitral valve insufficiency -+ 'mitral valve insufficiency' SubClassOf 'mitral valve disease' +Class: http://purl.obolibrary.org/obo/MONDO_0013468 +Label(s): retinitis pigmentosa 59 ++ 'retinitis pigmentosa 59' SubClassOf 'DHDDS-related syndrome' ++ 'retinitis pigmentosa 59' SubClassOf 'retinitis pigmentosa' ++ 'retinitis pigmentosa 59' SubClassOf 'congenital nervous system disorder' ++ 'retinitis pigmentosa 59' SubClassOf 'DHDDS-CDG' + +Class: http://purl.obolibrary.org/obo/MONDO_0013388 +Label(s): developmental and epileptic encephalopathy, 11 ++ 'developmental and epileptic encephalopathy, 11' SubClassOf 'developmental and epileptic encephalopathy' + +Class: http://purl.obolibrary.org/obo/MONDO_0100068 +Label(s): SLC10A7-congenital disorder of glycosylation ++ 'SLC10A7-congenital disorder of glycosylation' SubClassOf 'bone disease' ++ 'SLC10A7-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation' + +Class: http://purl.obolibrary.org/obo/HP_0012764 +Label(s): Orthopnea ++ 'Orthopnea' SubClassOf 'Dyspnea' + +Class: http://purl.obolibrary.org/obo/MONDO_0013087 +Label(s): bronchiectasis with or without elevated sweat chloride 2 ++ 'bronchiectasis with or without elevated sweat chloride 2' SubClassOf 'idiopathic bronchiectasis' + +Class: http://purl.obolibrary.org/obo/MONDO_0013015 +Label(s): Brugada syndrome 5 ++ 'Brugada syndrome 5' SubClassOf 'Brugada syndrome' + +Class: http://purl.obolibrary.org/obo/MONDO_0000479 +Label(s): segmental dystonia ++ 'segmental dystonia' SubClassOf 'dystonic disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0010607 +Label(s): heterotaxy, visceral, 1, X-linked ++ 'heterotaxy, visceral, 1, X-linked' SubClassOf 'visceral heterotaxy' + +Class: http://purl.obolibrary.org/obo/MONDO_0010488 +Label(s): intellectual disability, X-linked 100 ++ 'intellectual disability, X-linked 100' SubClassOf 'non-syndromic X-linked intellectual disability' + +Class: http://purl.obolibrary.org/obo/MONDO_0010449 +Label(s): autism, susceptibility to, X-linked 5 ++ 'autism, susceptibility to, X-linked 5' SubClassOf 'autism, susceptiblity to' + +Class: http://purl.obolibrary.org/obo/MONDO_0010238 +Label(s): hearing loss, X-linked 4 ++ 'hearing loss, X-linked 4' SubClassOf 'X-linked nonsyndromic hearing loss' + +Class: http://purl.obolibrary.org/obo/MONDO_8000015 +Label(s): 46,XY sex reversal 11 ++ '46,XY sex reversal 11' SubClassOf '46,XY complete gonadal dysgenesis' + +Class: http://purl.obolibrary.org/obo/OBA_2051965 +Label(s): amount of apolipoprotein(a) in blood ++ 'amount of apolipoprotein(a) in blood' SubClassOf 'amount' + +Class: http://purl.obolibrary.org/obo/OBA_2051964 +Label(s): age of onset of isolated dystonia ++ 'age of onset of isolated dystonia' SubClassOf 'characteristic of' some 'isolated dystonia' ++ 'age of onset of isolated dystonia' SubClassOf 'age of onset of disease' ++ 'age of onset of isolated dystonia' EquivalentTo 'Onset' and ('characteristic of' some 'isolated dystonia') + +Class: http://purl.obolibrary.org/obo/HP_0002591 +Label(s): Polyphagia ++ 'Polyphagia' SubClassOf 'Abnormal eating behavior' + +Class: http://purl.obolibrary.org/obo/MONDO_0014627 +Label(s): dystonia 27 ++ 'dystonia 27' SubClassOf 'segmental dystonia' ++ 'dystonia 27' SubClassOf 'focal, segmental or multifocal dystonia' + +Class: http://purl.obolibrary.org/obo/OBA_2051963 +Label(s): trait in response to gabapentin ++ 'trait in response to gabapentin' SubClassOf 'response to anticonvulsant' + +Class: http://purl.obolibrary.org/obo/MONDO_0012878 +Label(s): Cowden syndrome 2 ++ 'Cowden syndrome 2' SubClassOf 'Cowden disease' + +Class: http://purl.obolibrary.org/obo/MONDO_0012849 +Label(s): Joubert syndrome 9 ++ 'Joubert syndrome 9' SubClassOf 'Joubert syndrome' ++ 'Joubert syndrome 9' SubClassOf 'Joubert syndrome with oculorenal defect' + +Class: http://purl.obolibrary.org/obo/MONDO_0012848 +Label(s): Meckel syndrome, type 6 ++ 'Meckel syndrome, type 6' SubClassOf 'Meckel syndrome' ++ 'Meckel syndrome, type 6' SubClassOf 'polydactyly-syndactyly-triphalangism' + +Class: http://purl.obolibrary.org/obo/MONDO_0100575 +Label(s): genetic generalized epilepsy ++ 'genetic generalized epilepsy' SubClassOf 'generalized epilepsy' + +Class: http://purl.obolibrary.org/obo/MONDO_0100576 +Label(s): hereditary generalized epilepsy ++ 'hereditary generalized epilepsy' SubClassOf 'hereditary neurological disease' ++ 'hereditary generalized epilepsy' SubClassOf 'genetic generalized epilepsy' ---------------------------------- -3. Changes to EFO3 +2. Changes to EFO3 @Classes modified from previous -Class: http://purl.obolibrary.org/obo/MONDO_0009015 -Label(s): corneal dystrophy-perceptive deafness syndrome -- 'corneal dystrophy-perceptive deafness syndrome' SubClassOf 'syndromic disease' -+ 'corneal dystrophy-perceptive deafness syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009020 -Label(s): macular corneal dystrophy -- 'macular corneal dystrophy' SubClassOf 'stromal corneal dystrophy' -+ 'macular corneal dystrophy' SubClassOf 'stromal corneal dystrophy' - Class: http://purl.obolibrary.org/obo/MONDO_0012756 Label(s): proximal 16p11.2 microdeletion syndrome - 'proximal 16p11.2 microdeletion syndrome' SubClassOf 'predisposes towards' some 'autism' -+ 'proximal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autism' - -Class: http://purl.obolibrary.org/obo/MONDO_0012755 -Label(s): episodic ataxia type 7 -- 'episodic ataxia type 7' SubClassOf 'hereditary episodic ataxia' -+ 'episodic ataxia type 7' SubClassOf 'hereditary episodic ataxia' - -Class: http://www.ebi.ac.uk/efo/EFO_0005580 -Label(s): red color blindness -- 'red color blindness' SubClassOf 'color vision disorder' -+ 'red color blindness' SubClassOf 'color vision disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0002089 -Label(s): retinal vascular occlusion -- 'retinal vascular occlusion' SubClassOf 'retinal vascular disorder' -+ 'retinal vascular occlusion' SubClassOf 'retinal vascular disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0030258 -Label(s): pontocerebellar hypoplasia, type 14 -- 'pontocerebellar hypoplasia, type 14' SubClassOf 'pontocerebellar hypoplasia' -+ 'pontocerebellar hypoplasia, type 14' SubClassOf 'pontocerebellar hypoplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012721 -Label(s): progressive myoclonic epilepsy type 3 -- 'progressive myoclonic epilepsy type 3' SubClassOf 'neuronal ceroid lipofuscinosis' -- 'progressive myoclonic epilepsy type 3' SubClassOf 'progressive myoclonus epilepsy' -+ 'progressive myoclonic epilepsy type 3' SubClassOf 'neuronal ceroid lipofuscinosis' -+ 'progressive myoclonic epilepsy type 3' SubClassOf 'progressive myoclonus epilepsy' ++ 'proximal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism' Class: http://purl.obolibrary.org/obo/MONDO_0012720 Label(s): Krabbe disease due to saposin A deficiency - 'Krabbe disease due to saposin A deficiency' SubClassOf 'disease shares features of' some 'Krabbe disease' -+ 'Krabbe disease due to saposin A deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Krabbe disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0002058 -Label(s): breast adenoma -- 'breast adenoma' SubClassOf 'benign epithelial neoplasm' -+ 'breast adenoma' SubClassOf 'benign epithelial neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0012700 -Label(s): renal tubular acidosis, distal, 4, with hemolytic anemia -- 'renal tubular acidosis, distal, 4, with hemolytic anemia' SubClassOf 'distal renal tubular acidosis' -+ 'renal tubular acidosis, distal, 4, with hemolytic anemia' SubClassOf 'distal renal tubular acidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0002039 -Label(s): cognitive disorder -- 'cognitive disorder' SubClassOf 'psychiatric disorder' -+ 'cognitive disorder' SubClassOf 'psychiatric disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0002038 -Label(s): head and neck carcinoma -- 'head and neck carcinoma' SubClassOf 'carcinoma' -+ 'head and neck carcinoma' SubClassOf 'carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0002035 -Label(s): colon lymphoma -- 'colon lymphoma' SubClassOf 'colorectal lymphoma' -+ 'colon lymphoma' SubClassOf 'colorectal lymphoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0002030 -Label(s): chronic cervicitis -- 'chronic cervicitis' SubClassOf 'cervicitis' -+ 'chronic cervicitis' SubClassOf 'cervicitis' ++ 'Krabbe disease due to saposin A deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Krabbe disease' Class: http://purl.obolibrary.org/obo/MONDO_0002017 Label(s): olivopontocerebellar atrophy - 'olivopontocerebellar atrophy' SubClassOf 'disease shares features of' some 'cerebellar ataxia' -+ 'olivopontocerebellar atrophy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0002014 -Label(s): autosomal recessive Ehlers-Danlos syndrome, vascular type -- 'autosomal recessive Ehlers-Danlos syndrome, vascular type' SubClassOf 'autosomal recessive disease' -+ 'autosomal recessive Ehlers-Danlos syndrome, vascular type' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0002013 -Label(s): lymphangioma -- 'lymphangioma' SubClassOf 'benign epithelial neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0019767 -Label(s): hamel cerebro-palato-cardiac syndrome -- 'hamel cerebro-palato-cardiac syndrome' SubClassOf 'Renpenning syndrome' -+ 'hamel cerebro-palato-cardiac syndrome' SubClassOf 'Renpenning syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0007690 -Label(s): aromatase excess syndrome -- 'aromatase excess syndrome' SubClassOf 'reproductive system disease' -+ 'aromatase excess syndrome' SubClassOf 'reproductive system disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007686 -Label(s): gray platelet syndrome -- 'gray platelet syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' -- 'gray platelet syndrome' SubClassOf 'alpha granule disease' -+ 'gray platelet syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' -+ 'gray platelet syndrome' SubClassOf 'alpha granule disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007671 -Label(s): fibronectin glomerulopathy -- 'fibronectin glomerulopathy' SubClassOf 'glomerular disease' -+ 'fibronectin glomerulopathy' SubClassOf 'glomerular disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0014121 -Label(s): autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures -- 'autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'autosomal dominant childhood-onset proximal spinal muscular atrophy' -+ 'autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'autosomal dominant childhood-onset proximal spinal muscular atrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0007639 -Label(s): fundus albipunctatus -+ 'fundus albipunctatus' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040055 - -Class: http://purl.obolibrary.org/obo/MONDO_0007636 -Label(s): frontorhiny -- 'frontorhiny' SubClassOf 'frontonasal dysplasia' -+ 'frontorhiny' SubClassOf 'frontonasal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0007635 -Label(s): Frasier syndrome -- 'Frasier syndrome' SubClassOf 'syndromic disease' -+ 'Frasier syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007630 -Label(s): North Carolina macular dystrophy -- 'North Carolina macular dystrophy' SubClassOf 'macular dystrophy, retinal' -+ 'North Carolina macular dystrophy' SubClassOf 'macular dystrophy, retinal' - -Class: http://purl.obolibrary.org/obo/MONDO_0007617 -Label(s): Coffin-Siris syndrome 1 -- 'Coffin-Siris syndrome 1' SubClassOf 'Coffin-Siris syndrome' -+ 'Coffin-Siris syndrome 1' SubClassOf 'Coffin-Siris syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0014159 -Label(s): autosomal recessive spinocerebellar ataxia 14 -- 'autosomal recessive spinocerebellar ataxia 14' SubClassOf 'autosomal recessive cerebellar ataxia' -+ 'autosomal recessive spinocerebellar ataxia 14' SubClassOf 'autosomal recessive cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014180 -Label(s): epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency -- 'epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency' SubClassOf 'epidermolysis bullosa simplex' -+ 'epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency' SubClassOf 'epidermolysis bullosa simplex' - -Class: http://www.ebi.ac.uk/efo/EFO_0000220 -Label(s): acute lymphoblastic leukemia -- 'acute lymphoblastic leukemia' SubClassOf 'Acute Leukemia' -+ 'acute lymphoblastic leukemia' SubClassOf 'Acute Leukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012693 -Label(s): glycogen storage disease due to muscle and heart glycogen synthase deficiency -- 'glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'disorder of glycogen metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0001704 -Label(s): vaginal glandular neoplasm -- 'vaginal glandular neoplasm' SubClassOf 'glandular cell neoplasm' -+ 'vaginal glandular neoplasm' SubClassOf 'glandular cell neoplasm' ++ 'olivopontocerebellar atrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'cerebellar ataxia' Class: http://purl.obolibrary.org/obo/MONDO_0016120 Label(s): myotonic syndrome - 'myotonic syndrome' SubClassOf 'disease has major feature' some 'Myotonia' - 'myotonic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'Myotonia') -+ 'myotonic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Myotonia') -+ 'myotonic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Myotonia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012683 -Label(s): pontocerebellar hypoplasia type 6 -- 'pontocerebellar hypoplasia type 6' SubClassOf 'pontocerebellar hypoplasia' -+ 'pontocerebellar hypoplasia type 6' SubClassOf 'pontocerebellar hypoplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012679 -Label(s): autosomal recessive osteopetrosis 6 -- 'autosomal recessive osteopetrosis 6' SubClassOf 'autosomal recessive osteopetrosis' -+ 'autosomal recessive osteopetrosis 6' SubClassOf 'autosomal recessive osteopetrosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0012676 -Label(s): autosomal recessive osteopetrosis 4 -- 'autosomal recessive osteopetrosis 4' SubClassOf 'autosomal recessive osteopetrosis' -+ 'autosomal recessive osteopetrosis 4' SubClassOf 'autosomal recessive osteopetrosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0012675 -Label(s): corticosteroid-binding globulin deficiency -- 'corticosteroid-binding globulin deficiency' SubClassOf 'adrenal gland disease' -+ 'corticosteroid-binding globulin deficiency' SubClassOf 'adrenal gland disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009110 -Label(s): dicarboxylic aminoaciduria -- 'dicarboxylic aminoaciduria' SubClassOf 'inborn disorder of amino acid transport' -+ 'dicarboxylic aminoaciduria' SubClassOf 'inborn disorder of amino acid transport' - -Class: http://purl.obolibrary.org/obo/MONDO_0009111 -Label(s): dihydropyrimidinuria -- 'dihydropyrimidinuria' SubClassOf 'inborn disorder of pyrimidine metabolism' -+ 'dihydropyrimidinuria' SubClassOf 'inborn disorder of pyrimidine metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0009112 -Label(s): rhizomelic chondrodysplasia punctata type 2 -- 'rhizomelic chondrodysplasia punctata type 2' SubClassOf 'rhizomelic chondrodysplasia punctata' -+ 'rhizomelic chondrodysplasia punctata type 2' SubClassOf 'rhizomelic chondrodysplasia punctata' - -Class: http://purl.obolibrary.org/obo/MONDO_0009114 -Label(s): congenital sucrase-isomaltase deficiency -- 'congenital sucrase-isomaltase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' -+ 'congenital sucrase-isomaltase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' - -Class: http://purl.obolibrary.org/obo/MONDO_0009124 -Label(s): Dubowitz syndrome -- 'Dubowitz syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'Dubowitz syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0012658 -Label(s): brachydactyly type B2 -- 'brachydactyly type B2' SubClassOf 'brachydactyly type B' -+ 'brachydactyly type B2' SubClassOf 'brachydactyly type B' - -Class: http://purl.obolibrary.org/obo/MONDO_0009134 -Label(s): congenital dyserythropoietic anemia type 2 -- 'congenital dyserythropoietic anemia type 2' SubClassOf 'congenital dyserythropoietic anemia' -+ 'congenital dyserythropoietic anemia type 2' SubClassOf 'congenital dyserythropoietic anemia' ++ 'myotonic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Myotonia') ++ 'myotonic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Myotonia' Class: http://purl.obolibrary.org/obo/MONDO_0012648 Label(s): isobutyryl-CoA dehydrogenase deficiency - 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' -+ 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0012638 -Label(s): microphthalmia-brain atrophy syndrome -- 'microphthalmia-brain atrophy syndrome' SubClassOf 'syndromic microphthalmia' -+ 'microphthalmia-brain atrophy syndrome' SubClassOf 'syndromic microphthalmia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012637 -Label(s): COG1-congenital disorder of glycosylation -- 'COG1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' -+ 'COG1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' - -Class: http://purl.obolibrary.org/obo/MONDO_0012635 -Label(s): COG8-congenital disorder of glycosylation -- 'COG8-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' -+ 'COG8-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' - -Class: http://purl.obolibrary.org/obo/MONDO_0030134 -Label(s): oculopharyngodistal myopathy 2 -- 'oculopharyngodistal myopathy 2' SubClassOf 'oculopharyngodistal myopathy' -+ 'oculopharyngodistal myopathy 2' SubClassOf 'oculopharyngodistal myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0012608 -Label(s): neuronopathy, distal hereditary motor, autosomal recessive 4 -- 'neuronopathy, distal hereditary motor, autosomal recessive 4' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' -+ 'neuronopathy, distal hereditary motor, autosomal recessive 4' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' - -Class: http://purl.obolibrary.org/obo/MONDO_0012601 -Label(s): autism, susceptibility to, 10 -- 'autism, susceptibility to, 10' SubClassOf 'autism, susceptiblity to' -+ 'autism, susceptibility to, 10' SubClassOf 'autism, susceptiblity to' - -Class: http://purl.obolibrary.org/obo/MONDO_0012600 -Label(s): autism, susceptibility to, 9 -- 'autism, susceptibility to, 9' SubClassOf 'autism, susceptiblity to' -+ 'autism, susceptibility to, 9' SubClassOf 'autism, susceptiblity to' - -Class: http://purl.obolibrary.org/obo/MONDO_0030105 -Label(s): galactosemia 4 -- 'galactosemia 4' SubClassOf 'galactosemia' -+ 'galactosemia 4' SubClassOf 'galactosemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0007586 -Label(s): exostoses, multiple, type 2 -- 'exostoses, multiple, type 2' SubClassOf 'hereditary multiple osteochondromas' -+ 'exostoses, multiple, type 2' SubClassOf 'hereditary multiple osteochondromas' - -Class: http://purl.obolibrary.org/obo/MONDO_0009726 -Label(s): proteosome-associated autoinflammatory syndrome -- 'proteosome-associated autoinflammatory syndrome' SubClassOf 'type 1 interferonopathy of childhood' -+ 'proteosome-associated autoinflammatory syndrome' SubClassOf 'type 1 interferonopathy of childhood' ++ 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' Class: http://purl.obolibrary.org/obo/MONDO_0007573 Label(s): erythroleukemia, familial, susceptibility to - 'erythroleukemia, familial, susceptibility to' SubClassOf 'predisposes towards' some 'acute erythroleukemia' -+ 'erythroleukemia, familial, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'acute erythroleukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0007556 -Label(s): epidermolysis bullosa simplex 2F, with mottled pigmentation -- 'epidermolysis bullosa simplex 2F, with mottled pigmentation' SubClassOf 'epidermolysis bullosa simplex' -+ 'epidermolysis bullosa simplex 2F, with mottled pigmentation' SubClassOf 'epidermolysis bullosa simplex' - -Class: http://purl.obolibrary.org/obo/MONDO_0007555 -Label(s): pidermolysis bullosa simplex 5A, Ogna type -- 'pidermolysis bullosa simplex 5A, Ogna type' SubClassOf 'epidermolysis bullosa simplex' -+ 'pidermolysis bullosa simplex 5A, Ogna type' SubClassOf 'epidermolysis bullosa simplex' - -Class: http://purl.obolibrary.org/obo/MONDO_0007554 -Label(s): epidermolysis bullosa simplex 1B, generalized intermediate -- 'epidermolysis bullosa simplex 1B, generalized intermediate' SubClassOf 'epidermolysis bullosa simplex' -+ 'epidermolysis bullosa simplex 1B, generalized intermediate' SubClassOf 'epidermolysis bullosa simplex' - -Class: http://purl.obolibrary.org/obo/MONDO_0007552 -Label(s): pretibial dystrophic epidermolysis bullosa -- 'pretibial dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' -+ 'pretibial dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' - -Class: http://purl.obolibrary.org/obo/MONDO_0007551 -Label(s): epidermolysis bullosa simplex 1C, localized -- 'epidermolysis bullosa simplex 1C, localized' SubClassOf 'epidermolysis bullosa simplex' -+ 'epidermolysis bullosa simplex 1C, localized' SubClassOf 'epidermolysis bullosa simplex' - -Class: http://purl.obolibrary.org/obo/MONDO_0007550 -Label(s): epidermolysis bullosa simplex 1A, generalized severe -- 'epidermolysis bullosa simplex 1A, generalized severe' SubClassOf 'epidermolysis bullosa simplex' -+ 'epidermolysis bullosa simplex 1A, generalized severe' SubClassOf 'epidermolysis bullosa simplex' - -Class: http://purl.obolibrary.org/obo/MONDO_0007540 -Label(s): multiple endocrine neoplasia type 1 -- 'multiple endocrine neoplasia type 1' SubClassOf 'multiple endocrine neoplasia' -+ 'multiple endocrine neoplasia type 1' SubClassOf 'multiple endocrine neoplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0007538 -Label(s): amelogenesis imperfecta, type 3A -- 'amelogenesis imperfecta, type 3A' SubClassOf 'amelogenesis imperfecta' -+ 'amelogenesis imperfecta, type 3A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0968955 - -Class: http://purl.obolibrary.org/obo/MONDO_0007525 -Label(s): Ehlers-Danlos syndrome, arthrochalasia type -- 'Ehlers-Danlos syndrome, arthrochalasia type' SubClassOf 'Ehlers-Danlos syndrome' -+ 'Ehlers-Danlos syndrome, arthrochalasia type' SubClassOf 'Ehlers-Danlos syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0007524 -Label(s): autosomal dominant Ehlers-Danlos syndrome, vascular type -- 'autosomal dominant Ehlers-Danlos syndrome, vascular type' SubClassOf 'autosomal dominant disease' -+ 'autosomal dominant Ehlers-Danlos syndrome, vascular type' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007510 -Label(s): Clouston syndrome -- 'Clouston syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'Clouston syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0014268 -Label(s): combined immunodeficiency due to OX40 deficiency -- 'combined immunodeficiency due to OX40 deficiency' SubClassOf 'combined immunodeficiency' -+ 'combined immunodeficiency due to OX40 deficiency' SubClassOf 'combined immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0014269 -Label(s): combined oxidative phosphorylation deficiency 19 -- 'combined oxidative phosphorylation deficiency 19' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation deficiency 19' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0014271 -Label(s): STT3B-congenital disorder of glycosylation -- 'STT3B-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'STT3B-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/GO_0003867 -Label(s): PXLP-K357-ABAT dimer:2Fe-2S transforms GABA to SUCCSA 4-aminobutyrate transaminase activity -- 'PXLP-K357-ABAT dimer:2Fe-2S transforms GABA to SUCCSA' SubClassOf 'catalytic activity' -+ 'PXLP-K357-ABAT dimer:2Fe-2S transforms GABA to SUCCSA' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/MONDO_0859257 -Label(s): intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism -- 'intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism' SubClassOf 'genetic disorder' -+ 'intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0971063 - -Class: http://purl.obolibrary.org/obo/MONDO_0013156 -Label(s): muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 -- 'muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' -+ 'muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' - -Class: http://purl.obolibrary.org/obo/MONDO_0009795 -Label(s): orofaciodigital syndrome IX -- 'orofaciodigital syndrome IX' SubClassOf 'orofaciodigital syndrome' -+ 'orofaciodigital syndrome IX' SubClassOf 'orofaciodigital syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0002561 -Label(s): lysosomal storage disease -- 'lysosomal storage disease' SubClassOf 'inborn errors of metabolism' -+ 'lysosomal storage disease' SubClassOf 'inborn errors of metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0012588 -Label(s): neuronal ceroid lipofuscinosis 7 -- 'neuronal ceroid lipofuscinosis 7' SubClassOf 'neuronal ceroid lipofuscinosis' -+ 'neuronal ceroid lipofuscinosis 7' SubClassOf 'neuronal ceroid lipofuscinosis' ++ 'erythroleukemia, familial, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'acute erythroleukemia' + +Class: http://purl.obolibrary.org/obo/MONDO_0007558 +Label(s): benign occipital epilepsy +- 'benign occipital epilepsy' SubClassOf 'epilepsy syndrome' ++ 'benign occipital epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' + +Class: http://purl.obolibrary.org/obo/MONDO_0012593 +Label(s): brain-lung-thyroid syndrome +- 'brain-lung-thyroid syndrome' SubClassOf 'syndromic disease' +- 'brain-lung-thyroid syndrome' SubClassOf 'endocrine system disease' ++ 'brain-lung-thyroid syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100520 Class: http://purl.obolibrary.org/obo/MONDO_0012585 Label(s): coronary heart disease, susceptibility to, 7 - 'coronary heart disease, susceptibility to, 7' SubClassOf 'predisposes towards' some 'coronary artery disease' -+ 'coronary heart disease, susceptibility to, 7' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'coronary artery disease' ++ 'coronary heart disease, susceptibility to, 7' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease' Class: http://purl.obolibrary.org/obo/MONDO_0012584 Label(s): systemic lupus erythematosus, susceptibility to, 9 - 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus' -+ 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'systemic lupus erythematosus' - -Class: http://purl.obolibrary.org/obo/MONDO_0042487 -Label(s): uterine cervix carcinoma in situ -- 'uterine cervix carcinoma in situ' SubClassOf 'uterus carcinoma in situ' -+ 'uterine cervix carcinoma in situ' SubClassOf 'uterus carcinoma in situ' - -Class: http://purl.obolibrary.org/obo/MONDO_0012579 -Label(s): autoimmune pulmonary alveolar proteinosis -- 'autoimmune pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis' -+ 'autoimmune pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0012574 -Label(s): Potocki-Lupski syndrome -- 'Potocki-Lupski syndrome' SubClassOf 'partial duplication of the short arm of chromosome 17' -+ 'Potocki-Lupski syndrome' SubClassOf 'partial duplication of the short arm of chromosome 17' ++ 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'systemic lupus erythematosus' Class: http://purl.obolibrary.org/obo/MONDO_0012570 Label(s): body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency - 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'disease shares features of' some 'pseudoxanthoma elasticum (inherited or acquired)' -+ 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'pseudoxanthoma elasticum (inherited or acquired)' - -Class: http://purl.obolibrary.org/obo/MONDO_0009216 -Label(s): glycogen storage disease due to GLUT2 deficiency -- 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'disorder of glycogen metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0009226 -Label(s): fibrochondrogenesis 1 -- 'fibrochondrogenesis 1' SubClassOf 'fibrochondrogenesis' -+ 'fibrochondrogenesis 1' SubClassOf 'fibrochondrogenesis' - -Class: http://purl.obolibrary.org/obo/MONDO_0030072 -Label(s): developmental and epileptic encephalopathy, 88 -- 'developmental and epileptic encephalopathy, 88' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 88' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0000430 -Label(s): mature T-cell and NK-cell non-Hodgkin lymphoma -- 'mature T-cell and NK-cell non-Hodgkin lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' -+ 'mature T-cell and NK-cell non-Hodgkin lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0012556 -Label(s): DK1-congenital disorder of glycosylation -- 'DK1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'DK1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0012553 -Label(s): cerebrooculofacioskeletal syndrome 2 -- 'cerebrooculofacioskeletal syndrome 2' SubClassOf 'COFS syndrome' -+ 'cerebrooculofacioskeletal syndrome 2' SubClassOf 'COFS syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0012552 -Label(s): multiple endocrine neoplasia type 4 -- 'multiple endocrine neoplasia type 4' SubClassOf 'multiple endocrine neoplasia' -+ 'multiple endocrine neoplasia type 4' SubClassOf 'multiple endocrine neoplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0030067 -Label(s): Treacher Collins syndrome 4 -- 'Treacher Collins syndrome 4' SubClassOf 'Treacher-Collins syndrome' -+ 'Treacher Collins syndrome 4' SubClassOf 'Treacher-Collins syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0030066 -Label(s): granulomatous disease, chronic, autosomal recessive, 5 -- 'granulomatous disease, chronic, autosomal recessive, 5' SubClassOf 'chronic granulomatous disease' -+ 'granulomatous disease, chronic, autosomal recessive, 5' SubClassOf 'chronic granulomatous disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0005687 -Label(s): fibromyalgia -- 'fibromyalgia' SubClassOf 'syndromic disease' -+ 'fibromyalgia' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0030062 -Label(s): arrhythmogenic right ventricular dysplasia, familial, 14 -- 'arrhythmogenic right ventricular dysplasia, familial, 14' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' -+ 'arrhythmogenic right ventricular dysplasia, familial, 14' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012549 -Label(s): autosomal recessive ataxia, Beauce type -- 'autosomal recessive ataxia, Beauce type' SubClassOf 'autosomal recessive cerebellar ataxia' -+ 'autosomal recessive ataxia, Beauce type' SubClassOf 'autosomal recessive cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012548 -Label(s): Kostmann syndrome -- 'Kostmann syndrome' SubClassOf 'autosomal recessive severe congenital neutropenia' -+ 'Kostmann syndrome' SubClassOf 'autosomal recessive severe congenital neutropenia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012545 -Label(s): neutral lipid storage myopathy -- 'neutral lipid storage myopathy' SubClassOf 'neutral lipid storage disease' -+ 'neutral lipid storage myopathy' SubClassOf 'neutral lipid storage disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0030059 -Label(s): developmental and epileptic encephalopathy, 87 -- 'developmental and epileptic encephalopathy, 87' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 87' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0030058 -Label(s): hearing loss, autosomal dominant 77 -- 'hearing loss, autosomal dominant 77' SubClassOf 'autosomal dominant nonsyndromic hearing loss' -+ 'hearing loss, autosomal dominant 77' SubClassOf 'autosomal dominant nonsyndromic hearing loss' - -Class: http://purl.obolibrary.org/obo/MONDO_0030055 -Label(s): neuronopathy, distal hereditary motor, autosomal recessive 8 -- 'neuronopathy, distal hereditary motor, autosomal recessive 8' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' -+ 'neuronopathy, distal hereditary motor, autosomal recessive 8' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' - -Class: http://purl.obolibrary.org/obo/MONDO_0030054 -Label(s): developmental and epileptic encephalopathy, 86 -- 'developmental and epileptic encephalopathy, 86' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 86' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0009249 -Label(s): hereditary fructose intolerance -- 'hereditary fructose intolerance' SubClassOf 'disorder of fructose metabolism' -+ 'hereditary fructose intolerance' SubClassOf 'disorder of fructose metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0009262 -Label(s): GM1 gangliosidosis type 3 -- 'GM1 gangliosidosis type 3' SubClassOf 'GM1 gangliosidosis' -+ 'GM1 gangliosidosis type 3' SubClassOf 'GM1 gangliosidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0030031 -Label(s): lissencephaly 10 -- 'lissencephaly 10' SubClassOf 'lissencephaly spectrum disorders' -+ 'lissencephaly 10' SubClassOf 'lissencephaly spectrum disorders' - -Class: http://purl.obolibrary.org/obo/MONDO_0012510 -Label(s): combined oxidative phosphorylation defect type 2 -- 'combined oxidative phosphorylation defect type 2' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation defect type 2' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0030027 -Label(s): tremor, hereditary essential, 6 -- 'tremor, hereditary essential, 6' SubClassOf 'essential tremor' -+ 'tremor, hereditary essential, 6' SubClassOf 'essential tremor' - -Class: http://purl.obolibrary.org/obo/MONDO_0030020 -Label(s): combined oxidative phosphorylation deficiency 44 -- 'combined oxidative phosphorylation deficiency 44' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation deficiency 44' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0012509 -Label(s): pigmented nodular adrenocortical disease, primary, 1 -- 'pigmented nodular adrenocortical disease, primary, 1' SubClassOf 'primary pigmented nodular adrenocortical disease' -+ 'pigmented nodular adrenocortical disease, primary, 1' SubClassOf 'primary pigmented nodular adrenocortical disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0030019 -Label(s): anauxetic dysplasia 3 -- 'anauxetic dysplasia 3' SubClassOf 'anauxetic dysplasia' -+ 'anauxetic dysplasia 3' SubClassOf 'anauxetic dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0030017 -Label(s): combined oxidative phosphorylation deficiency 43 -- 'combined oxidative phosphorylation deficiency 43' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation deficiency 43' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0009291 -Label(s): glycogen storage disease III -- 'glycogen storage disease III' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disease III' SubClassOf 'disorder of glycogen metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0030008 -Label(s): combined oxidative phosphorylation deficiency 42 -- 'combined oxidative phosphorylation deficiency 42' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation deficiency 42' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0030007 -Label(s): combined oxidative phosphorylation deficiency 41 -- 'combined oxidative phosphorylation deficiency 41' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation deficiency 41' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0030006 -Label(s): combined oxidative phosphorylation deficiency 40 -- 'combined oxidative phosphorylation deficiency 40' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation deficiency 40' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0030004 -Label(s): autism, susceptibility to, 20 -- 'autism, susceptibility to, 20' SubClassOf 'autism, susceptiblity to' -+ 'autism, susceptibility to, 20' SubClassOf 'autism, susceptiblity to' - -Class: http://purl.obolibrary.org/obo/MONDO_0019950 -Label(s): congenital muscular dystrophy -- 'congenital muscular dystrophy' SubClassOf 'muscular dystrophy' -+ 'congenital muscular dystrophy' SubClassOf 'muscular dystrophy' ++ 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'pseudoxanthoma elasticum (inherited or acquired)' Class: http://purl.obolibrary.org/obo/MONDO_0007495 Label(s): dystonia 5 -- 'dystonia 5' SubClassOf 'inherited dystonia' - 'dystonia 5' SubClassOf 'disease responds to' some 'L-dopa' -- 'dystonia 5' SubClassOf 'dopa-responsive dystonia' -+ 'dystonia 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'L-dopa' -+ 'dystonia 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0971063 - -Class: http://purl.obolibrary.org/obo/MONDO_0024715 -Label(s): benign synovial neoplasm -- 'benign synovial neoplasm' SubClassOf 'benign soft tissue neoplasm' -+ 'benign synovial neoplasm' SubClassOf 'benign soft tissue neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0007478 -Label(s): autosomal dominant Kenny-Caffey syndrome -- 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' -- 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'autosomal dominant disease' -+ 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' -+ 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007477 -Label(s): 3-M syndrome -- '3-M syndrome' SubClassOf 'syndromic disease' -+ '3-M syndrome' SubClassOf 'syndromic disease' ++ 'dystonia 5' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'L-dopa' + +Class: http://purl.obolibrary.org/obo/MONDO_0035651 +Label(s): choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome +- 'choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'genetic disorder' ++ 'choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'genetic disorder' Class: http://purl.obolibrary.org/obo/MONDO_0007462 Label(s): multiple sclerosis, susceptibility to - 'multiple sclerosis, susceptibility to' SubClassOf 'predisposes towards' some 'multiple sclerosis' - 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'multiple sclerosis') -+ 'multiple sclerosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'multiple sclerosis' -+ 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'multiple sclerosis') - -Class: http://purl.obolibrary.org/obo/MONDO_0007451 -Label(s): diabetes insipidus, nephrogenic, autosomal -- 'diabetes insipidus, nephrogenic, autosomal' SubClassOf 'nephrogenic diabetes insipidus' -+ 'diabetes insipidus, nephrogenic, autosomal' SubClassOf 'nephrogenic diabetes insipidus' - -Class: http://purl.obolibrary.org/obo/MONDO_0007450 -Label(s): neurohypophyseal diabetes insipidus -- 'neurohypophyseal diabetes insipidus' SubClassOf 'autosomal dominant disease' -+ 'neurohypophyseal diabetes insipidus' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007445 -Label(s): dermatopathia pigmentosa reticularis -- 'dermatopathia pigmentosa reticularis' SubClassOf 'ectodermal dysplasia syndrome' -+ 'dermatopathia pigmentosa reticularis' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0007442 -Label(s): dentinogenesis imperfecta type 3 -- 'dentinogenesis imperfecta type 3' SubClassOf 'dentinogenesis imperfecta' -+ 'dentinogenesis imperfecta type 3' SubClassOf 'dentinogenesis imperfecta' - -Class: http://purl.obolibrary.org/obo/MONDO_0014339 -Label(s): autosomal recessive spinocerebellar ataxia 16 -- 'autosomal recessive spinocerebellar ataxia 16' SubClassOf 'autosomal recessive cerebellar ataxia' -+ 'autosomal recessive spinocerebellar ataxia 16' SubClassOf 'autosomal recessive cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0007420 -Label(s): autosomal dominant deafness - onychodystrophy syndrome -- 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'syndromic disease' -+ 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007415 -Label(s): mitochondrial complex III deficiency nuclear type 1 -- 'mitochondrial complex III deficiency nuclear type 1' SubClassOf 'mitochondrial complex III deficiency, nuclear type' -+ 'mitochondrial complex III deficiency nuclear type 1' SubClassOf 'mitochondrial complex III deficiency, nuclear type' ++ 'multiple sclerosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'multiple sclerosis' ++ 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'multiple sclerosis') + +Class: http://purl.obolibrary.org/obo/MONDO_0014343 +Label(s): Desbuquois dysplasia 2 ++ 'Desbuquois dysplasia 2' SubClassOf 'hereditary disorder of connective tissue' ++ 'Desbuquois dysplasia 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040022 Class: http://purl.obolibrary.org/obo/MONDO_0007410 Label(s): isolated cryptophthalmia -- 'isolated cryptophthalmia' SubClassOf 'cryptophthalmia' -+ 'isolated cryptophthalmia' SubClassOf 'cryptophthalmia' - -Class: http://purl.obolibrary.org/obo/MONDO_0007404 -Label(s): Cri-du-chat syndrome -- 'Cri-du-chat syndrome' SubClassOf 'partial deletion of the short arm of chromosome 5' -- 'Cri-du-chat syndrome' SubClassOf 'syndromic disease' -+ 'Cri-du-chat syndrome' SubClassOf 'partial deletion of the short arm of chromosome 5' -+ 'Cri-du-chat syndrome' SubClassOf 'syndromic disease' ++ 'isolated cryptophthalmia' SubClassOf 'genetic disorder' Class: http://purl.obolibrary.org/obo/MONDO_0007401 Label(s): craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome - 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0030781 -Label(s): restrictive dermopathy 2 -- 'restrictive dermopathy 2' SubClassOf 'restrictive dermopathy' -+ 'restrictive dermopathy 2' SubClassOf 'restrictive dermopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0012495 -Label(s): spondyloepimetaphyseal dysplasia, Genevieve type -- 'spondyloepimetaphyseal dysplasia, Genevieve type' SubClassOf 'spondyloepimetaphyseal dysplasia' -+ 'spondyloepimetaphyseal dysplasia, Genevieve type' SubClassOf 'spondyloepimetaphyseal dysplasia' ++ 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0012488 Label(s): hepatitis B virus, susceptibility to - 'hepatitis B virus, susceptibility to' SubClassOf 'predisposes towards' some 'genetic disorder' -+ 'hepatitis B virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'genetic disorder' ++ 'hepatitis B virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'genetic disorder' Class: http://purl.obolibrary.org/obo/MONDO_0012482 Label(s): West Nile virus, susceptibility to - 'West Nile virus, susceptibility to' SubClassOf 'predisposes towards' some 'West Nile encephalitis' -+ 'West Nile virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'West Nile encephalitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0009300 -Label(s): Perrault syndrome 1 -- 'Perrault syndrome 1' SubClassOf 'Perrault syndrome' -+ 'Perrault syndrome 1' SubClassOf 'Perrault syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0012475 -Label(s): cone dystrophy with supernormal rod response -- 'cone dystrophy with supernormal rod response' SubClassOf 'cone dystrophy' -+ 'cone dystrophy with supernormal rod response' SubClassOf 'cone dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0009312 -Label(s): lipodystrophy due to peptidic growth factors deficiency -- 'lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'hereditary lipodystrophy' -+ 'lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'hereditary lipodystrophy' ++ 'West Nile virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'West Nile encephalitis' Class: http://purl.obolibrary.org/obo/MONDO_0012466 Label(s): Parkinson disease 13, autosomal dominant, susceptibility to - 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease' -+ 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Parkinson disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0060555 -Label(s): vertebral, cardiac, renal, and limb defects syndrome 2 -- 'vertebral, cardiac, renal, and limb defects syndrome 2' SubClassOf 'congenital vertebral-cardiac-renal anomalies syndrome' -+ 'vertebral, cardiac, renal, and limb defects syndrome 2' SubClassOf 'congenital vertebral-cardiac-renal anomalies syndrome' ++ 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Parkinson disease' Class: http://purl.obolibrary.org/obo/MONDO_0012456 Label(s): congenital primary aphakia - 'congenital primary aphakia' SubClassOf 'disease has major feature' some 'Congenital aphakia' -- 'congenital primary aphakia' SubClassOf 'anterior segment dysgenesis' -+ 'congenital primary aphakia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Congenital aphakia' -+ 'congenital primary aphakia' SubClassOf 'anterior segment dysgenesis' ++ 'congenital primary aphakia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Congenital aphakia' Class: http://purl.obolibrary.org/obo/MONDO_0009335 Label(s): hemolytic uremic syndrome, atypical, susceptibility to, 1 - 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf 'predisposes towards' some 'atypical hemolytic-uremic syndrome' -+ 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'atypical hemolytic-uremic syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0009345 -Label(s): histidinemia -- 'histidinemia' SubClassOf 'inborn disorder of histidine metabolism' -+ 'histidinemia' SubClassOf 'inborn disorder of histidine metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0012438 -Label(s): pontocerebellar hypoplasia type 5 -- 'pontocerebellar hypoplasia type 5' SubClassOf 'pontocerebellar hypoplasia' -+ 'pontocerebellar hypoplasia type 5' SubClassOf 'pontocerebellar hypoplasia' ++ 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'atypical hemolytic-uremic syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0012435 Label(s): 3-methylglutaconic aciduria type 5 - '3-methylglutaconic aciduria type 5' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' -- '3-methylglutaconic aciduria type 5' SubClassOf '3-methylglutaconic aciduria' -+ '3-methylglutaconic aciduria type 5' SubClassOf '3-methylglutaconic aciduria' -+ '3-methylglutaconic aciduria type 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0012417 -Label(s): heart-hand syndrome, Slovenian type -- 'heart-hand syndrome, Slovenian type' SubClassOf 'heart-hand syndrome' -+ 'heart-hand syndrome, Slovenian type' SubClassOf 'heart-hand syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0012413 -Label(s): syndromic microphthalmia type 5 -- 'syndromic microphthalmia type 5' SubClassOf 'syndromic microphthalmia' -+ 'syndromic microphthalmia type 5' SubClassOf 'syndromic microphthalmia' ++ '3-methylglutaconic aciduria type 5' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' Class: http://purl.obolibrary.org/obo/MONDO_0012407 Label(s): pyridoxal phosphate-responsive seizures -- 'pyridoxal phosphate-responsive seizures' SubClassOf 'inborn disorder of pyridoxine metabolism' - 'pyridoxal phosphate-responsive seizures' SubClassOf 'disease responds to' some 'pyridoxal 5'-phosphate' - 'pyridoxal phosphate-responsive seizures' EquivalentTo 'metabolic epilepsy' and ('disease responds to' some 'pyridoxal 5'-phosphate') -+ 'pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'pyridoxal 5'-phosphate' -+ 'pyridoxal phosphate-responsive seizures' SubClassOf 'inborn disorder of pyridoxine metabolism' -+ 'pyridoxal phosphate-responsive seizures' EquivalentTo 'metabolic epilepsy' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'pyridoxal 5'-phosphate') ++ 'pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'pyridoxal 5'-phosphate' ++ 'pyridoxal phosphate-responsive seizures' EquivalentTo 'metabolic epilepsy' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'pyridoxal 5'-phosphate') Class: http://purl.obolibrary.org/obo/MONDO_0012402 Label(s): opioid dependence, susceptibility to, 1 - 'opioid dependence, susceptibility to, 1' SubClassOf 'predisposes towards' some 'opioid dependence' -+ 'opioid dependence, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'opioid dependence' - -Class: http://purl.obolibrary.org/obo/MONDO_0012401 -Label(s): congenital stromal corneal dystrophy -- 'congenital stromal corneal dystrophy' SubClassOf 'stromal corneal dystrophy' -+ 'congenital stromal corneal dystrophy' SubClassOf 'stromal corneal dystrophy' - -Class: http://www.ebi.ac.uk/efo/EFO_0003929 -Label(s): relapsing-remitting multiple sclerosis -- 'relapsing-remitting multiple sclerosis' SubClassOf 'multiple sclerosis' -+ 'relapsing-remitting multiple sclerosis' SubClassOf 'multiple sclerosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0007383 -Label(s): Stern-Lubinsky-Durrie syndrome -- 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0007376 -Label(s): fleck corneal dystrophy -- 'fleck corneal dystrophy' SubClassOf 'stromal corneal dystrophy' -+ 'fleck corneal dystrophy' SubClassOf 'stromal corneal dystrophy' - -Class: http://purl.obolibrary.org/obo/GO_0009066 -Label(s): aspartate family amino acid metabolic process -- 'aspartate family amino acid metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/GO_0009069 -Label(s): serine family amino acid metabolic process -- 'serine family amino acid metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0007367 -Label(s): febrile seizures, familial, 1 -- 'febrile seizures, familial, 1' SubClassOf 'febrile seizures, familial' -+ 'febrile seizures, familial, 1' SubClassOf 'febrile seizures, familial' - -Class: http://purl.obolibrary.org/obo/MONDO_0007352 -Label(s): renal coloboma syndrome -- 'renal coloboma syndrome' SubClassOf 'syndromic disease' -+ 'renal coloboma syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0035525 -Label(s): blepharophimosis-ptosis-epicanthus inversus syndrome type 2 -- 'blepharophimosis-ptosis-epicanthus inversus syndrome type 2' SubClassOf 'blepharophimosis, ptosis, and epicanthus inversus syndrome' -+ 'blepharophimosis-ptosis-epicanthus inversus syndrome type 2' SubClassOf 'blepharophimosis, ptosis, and epicanthus inversus syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0007339 -Label(s): blepharocheilodontic syndrome -- 'blepharocheilodontic syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'blepharocheilodontic syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0007335 -Label(s): orofacial cleft 1 -- 'orofacial cleft 1' SubClassOf 'orofacial cleft' -+ 'orofacial cleft 1' SubClassOf 'orofacial cleft' - -Class: http://purl.obolibrary.org/obo/MONDO_0007334 -Label(s): autosomal dominant popliteal pterygium syndrome -- 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'popliteal pterygium syndrome' -+ 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'popliteal pterygium syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0007330 -Label(s): congenital pseudoarthrosis of clavicle -- 'congenital pseudoarthrosis of clavicle' SubClassOf 'dysostosis' -+ 'congenital pseudoarthrosis of clavicle' SubClassOf 'dysostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0007321 -Label(s): autosomal dominant chondrodysplasia punctata -- 'autosomal dominant chondrodysplasia punctata' SubClassOf 'autosomal dominant disease' -+ 'autosomal dominant chondrodysplasia punctata' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007306 -Label(s): Klippel-Feil syndrome 1, autosomal dominant -- 'Klippel-Feil syndrome 1, autosomal dominant' SubClassOf 'Klippel-Feil syndrome' -+ 'Klippel-Feil syndrome 1, autosomal dominant' SubClassOf 'Klippel-Feil syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0016216 -Label(s): adult hepatocellular carcinoma -- 'adult hepatocellular carcinoma' SubClassOf 'hepatocellular carcinoma' -+ 'adult hepatocellular carcinoma' SubClassOf 'hepatocellular carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0012394 -Label(s): multiple synostoses syndrome 2 -- 'multiple synostoses syndrome 2' SubClassOf 'multiple synostoses syndrome' -+ 'multiple synostoses syndrome 2' SubClassOf 'multiple synostoses syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0012391 -Label(s): neuronal ceroid lipofuscinosis 8 northern epilepsy variant -- 'neuronal ceroid lipofuscinosis 8 northern epilepsy variant' SubClassOf 'progressive myoclonus epilepsy' -+ 'neuronal ceroid lipofuscinosis 8 northern epilepsy variant' SubClassOf 'progressive myoclonus epilepsy' ++ 'opioid dependence, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'opioid dependence' Class: http://www.ebi.ac.uk/efo/EFO_0005772 Label(s): neurodegenerative disease -- 'neurodegenerative disease' SubClassOf 'central nervous system disease' - 'neurodegenerative disease' SubClassOf 'disease has major feature' some 'Cerebral degeneration' -+ 'neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Cerebral degeneration' -+ 'neurodegenerative disease' SubClassOf 'central nervous system disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012354 -Label(s): platelet-type bleeding disorder 8 -- 'platelet-type bleeding disorder 8' SubClassOf 'inherited bleeding disorder, platelet-type' -+ 'platelet-type bleeding disorder 8' SubClassOf 'inherited bleeding disorder, platelet-type' - -Class: http://www.ebi.ac.uk/efo/EFO_0003891 -Label(s): biliary tract neoplasm -- 'biliary tract neoplasm' SubClassOf 'biliary tract disease' -+ 'biliary tract neoplasm' SubClassOf 'biliary tract disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012345 -Label(s): acral peeling skin syndrome -- 'acral peeling skin syndrome' SubClassOf 'peeling skin syndrome' -+ 'acral peeling skin syndrome' SubClassOf 'peeling skin syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0003871 -Label(s): tongue neoplasm -- 'tongue neoplasm' SubClassOf 'tongue disorder' -+ 'tongue neoplasm' SubClassOf 'tongue disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0012320 -Label(s): migraine, familial hemiplegic, 3 -- 'migraine, familial hemiplegic, 3' SubClassOf 'familial hemiplegic migraine' -+ 'migraine, familial hemiplegic, 3' SubClassOf 'familial hemiplegic migraine' - -Class: http://www.ebi.ac.uk/efo/EFO_0003851 -Label(s): meningeal neoplasm -- 'meningeal neoplasm' SubClassOf 'Central Nervous System Neoplasm' -+ 'meningeal neoplasm' SubClassOf 'Central Nervous System Neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0012301 -Label(s): mitochondrial DNA depletion syndrome, myopathic form -- 'mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'mitochondrial DNA depletion syndrome' -+ 'mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'mitochondrial DNA depletion syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0003844 -Label(s): ureteral neoplasm -- 'ureteral neoplasm' SubClassOf 'ureteral disorder' -+ 'ureteral neoplasm' SubClassOf 'ureteral disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0017998 -Label(s): PLA2G6-associated neurodegeneration -- 'PLA2G6-associated neurodegeneration' SubClassOf 'neurodegeneration with brain iron accumulation' -+ 'PLA2G6-associated neurodegeneration' SubClassOf 'neurodegeneration with brain iron accumulation' - -Class: http://www.ebi.ac.uk/efo/EFO_0003835 -Label(s): anal neoplasm -- 'anal neoplasm' SubClassOf 'anus disease' -+ 'anal neoplasm' SubClassOf 'anus disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0003833 -Label(s): brain neoplasm -- 'brain neoplasm' SubClassOf 'brain disease' -+ 'brain neoplasm' SubClassOf 'brain disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0003828 -Label(s): spinal cord neoplasm -- 'spinal cord neoplasm' SubClassOf 'spinal cord disease' -+ 'spinal cord neoplasm' SubClassOf 'spinal cord disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0011395 -Label(s): cone-rod dystrophy 3 -- 'cone-rod dystrophy 3' SubClassOf 'cone-rod dystrophy' -+ 'cone-rod dystrophy 3' SubClassOf 'cone-rod dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0007268 -Label(s): hypertrophic cardiomyopathy 4 -- 'hypertrophic cardiomyopathy 4' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'hypertrophic cardiomyopathy 4' SubClassOf 'familial hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0007266 -Label(s): hypertrophic cardiomyopathy 2 -- 'hypertrophic cardiomyopathy 2' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'hypertrophic cardiomyopathy 2' SubClassOf 'familial hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0007252 -Label(s): Gordon syndrome -- 'Gordon syndrome' SubClassOf 'distal arthrogryposis' -+ 'Gordon syndrome' SubClassOf 'distal arthrogryposis' - -Class: http://purl.obolibrary.org/obo/MONDO_0017906 -Label(s): amyloidosis cutis dyschromia -- 'amyloidosis cutis dyschromia' SubClassOf 'primary cutaneous amyloidosis' -+ 'amyloidosis cutis dyschromia' SubClassOf 'primary cutaneous amyloidosis' ++ 'neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cerebral degeneration' Class: http://purl.obolibrary.org/obo/MONDO_0017902 Label(s): autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency - 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'predisposes towards' some 'mycobacterial infectious disease' -+ 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'mycobacterial infectious disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007239 -Label(s): epidermolytic ichthyosis -- 'epidermolytic ichthyosis' SubClassOf 'keratinopathic ichthyosis' -+ 'epidermolytic ichthyosis' SubClassOf 'keratinopathic ichthyosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0007220 -Label(s): brachydactyly type B1 -- 'brachydactyly type B1' SubClassOf 'brachydactyly type B' -+ 'brachydactyly type B1' SubClassOf 'brachydactyly type B' - -Class: http://purl.obolibrary.org/obo/MONDO_0007218 -Label(s): brachydactyly type A4 -- 'brachydactyly type A4' SubClassOf 'brachydactyly' -+ 'brachydactyly type A4' SubClassOf 'brachydactyly' - -Class: http://purl.obolibrary.org/obo/MONDO_0007216 -Label(s): brachydactyly type A2 -- 'brachydactyly type A2' SubClassOf 'brachydactyly' -+ 'brachydactyly type A2' SubClassOf 'brachydactyly' - -Class: http://purl.obolibrary.org/obo/MONDO_0007215 -Label(s): brachydactyly type A1 -- 'brachydactyly type A1' SubClassOf 'brachydactyly' -+ 'brachydactyly type A1' SubClassOf 'brachydactyly' - -Class: http://purl.obolibrary.org/obo/MONDO_0007211 -Label(s): brachydactyly-arterial hypertension syndrome -- 'brachydactyly-arterial hypertension syndrome' SubClassOf 'syndromic disease' -+ 'brachydactyly-arterial hypertension syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0060631 -Label(s): Alkuraya-Kucinskas syndrome -- 'Alkuraya-Kucinskas syndrome' SubClassOf 'syndromic disease' -+ 'Alkuraya-Kucinskas syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012299 -Label(s): nanophthalmos 2 -- 'nanophthalmos 2' SubClassOf 'nanophthalmia' -+ 'nanophthalmos 2' SubClassOf 'nanophthalmia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012290 -Label(s): CEDNIK syndrome -- 'CEDNIK syndrome' SubClassOf 'syndromic disease' -+ 'CEDNIK syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012289 -Label(s): myofibrillar myopathy 5 -- 'myofibrillar myopathy 5' SubClassOf 'myofibrillar myopathy' -+ 'myofibrillar myopathy 5' SubClassOf 'myofibrillar myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0012280 -Label(s): Goldberg-Shprintzen syndrome -- 'Goldberg-Shprintzen syndrome' SubClassOf 'syndromic disease' -+ 'Goldberg-Shprintzen syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012274 -Label(s): acromesomelic dysplasia 3 -- 'acromesomelic dysplasia 3' SubClassOf 'acromesomelic dysplasia' -+ 'acromesomelic dysplasia 3' SubClassOf 'acromesomelic dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012258 -Label(s): epidermolysis bullosa simplex 2E, with migratory circinate erythema -- 'epidermolysis bullosa simplex 2E, with migratory circinate erythema' SubClassOf 'epidermolysis bullosa simplex' -+ 'epidermolysis bullosa simplex 2E, with migratory circinate erythema' SubClassOf 'epidermolysis bullosa simplex' - -Class: http://purl.obolibrary.org/obo/MONDO_0012251 -Label(s): MEDNIK syndrome -- 'MEDNIK syndrome' SubClassOf 'syndromic disease' -+ 'MEDNIK syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009530 -Label(s): lipoid proteinosis -- 'lipoid proteinosis' SubClassOf 'inherited lipid metabolism disorder' -+ 'lipoid proteinosis' SubClassOf 'inherited lipid metabolism disorder' - -Class: http://www.ebi.ac.uk/efo/EFO_0003781 -Label(s): carotid artery disease -- 'carotid artery disease' SubClassOf 'arterial disorder' -+ 'carotid artery disease' SubClassOf 'arterial disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0012239 -Label(s): congenital myopathy 4B, autosomal recessive -- 'congenital myopathy 4B, autosomal recessive' SubClassOf 'TPM3-related myopathy' -+ 'congenital myopathy 4B, autosomal recessive' SubClassOf 'TPM3-related myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0012235 -Label(s): autosomal recessive spinocerebellar ataxia 7 -- 'autosomal recessive spinocerebellar ataxia 7' SubClassOf 'autosomal recessive cerebellar ataxia' -+ 'autosomal recessive spinocerebellar ataxia 7' SubClassOf 'autosomal recessive cerebellar ataxia' ++ 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'mycobacterial infectious disease' + +Class: http://purl.obolibrary.org/obo/MONDO_0012243 +Label(s): B-cell immunodeficiency, distal limb anomalies, and urogenital malformations ++ 'B-cell immunodeficiency, distal limb anomalies, and urogenital malformations' SubClassOf 'syndromic disease' Class: http://www.ebi.ac.uk/efo/EFO_0003778 Label(s): psoriatic arthritis - 'psoriatic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some 'Autoimmunity') and ('disease has major feature' some 'psoriasis') - 'psoriatic arthritis' SubClassOf 'disease has major feature' some 'psoriasis' -+ 'psoriatic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some 'Autoimmunity') and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'psoriasis') -+ 'psoriatic arthritis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'psoriasis' - -Class: http://purl.obolibrary.org/obo/MONDO_0012222 -Label(s): alpha-N-acetylgalactosaminidase deficiency type 2 -- 'alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' -+ 'alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0012221 -Label(s): alpha-N-acetylgalactosaminidase deficiency type 1 -- 'alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' -+ 'alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0009561 -Label(s): alpha-mannosidosis -- 'alpha-mannosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' -- 'alpha-mannosidosis' SubClassOf 'oligosaccharidosis' -+ 'alpha-mannosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' -+ 'alpha-mannosidosis' SubClassOf 'oligosaccharidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0009562 -Label(s): beta-mannosidosis -- 'beta-mannosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' -- 'beta-mannosidosis' SubClassOf 'oligosaccharidosis' -+ 'beta-mannosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' -+ 'beta-mannosidosis' SubClassOf 'oligosaccharidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0009563 -Label(s): maple syrup urine disease -- 'maple syrup urine disease' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' -+ 'maple syrup urine disease' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0012215 -Label(s): myofibrillar myopathy 3 -- 'myofibrillar myopathy 3' SubClassOf 'myofibrillar myopathy' -+ 'myofibrillar myopathy 3' SubClassOf 'myofibrillar myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0012212 -Label(s): Loeys-Dietz syndrome 1 -- 'Loeys-Dietz syndrome 1' SubClassOf 'Loeys-Dietz syndrome' -+ 'Loeys-Dietz syndrome 1' SubClassOf 'Loeys-Dietz syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0012211 -Label(s): MPDU1-congenital disorder of glycosylation -- 'MPDU1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'MPDU1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0012204 -Label(s): familial pseudohyperkalemia -- 'familial pseudohyperkalemia' SubClassOf 'hereditary stomatocytosis' -+ 'familial pseudohyperkalemia' SubClassOf 'hereditary stomatocytosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0012203 -Label(s): familial hyperthyroidism due to mutations in TSH receptor -- 'familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'hyperthyroidism' -+ 'familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'hyperthyroidism' - -Class: http://purl.obolibrary.org/obo/MONDO_0017894 -Label(s): acute myeloid leukemia with CEBPA somatic mutations -- 'acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'acute myeloid leukemia' -+ 'acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'acute myeloid leukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0017893 -Label(s): inherited acute myeloid leukemia -- 'inherited acute myeloid leukemia' SubClassOf 'acute myeloid leukemia' -+ 'inherited acute myeloid leukemia' SubClassOf 'acute myeloid leukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0017886 -Label(s): MIT family translocation renal cell carcinoma -- 'MIT family translocation renal cell carcinoma' SubClassOf 'renal cell carcinoma' -+ 'MIT family translocation renal cell carcinoma' SubClassOf 'renal cell carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0017824 -Label(s): familial isolated pituitary adenoma -- 'familial isolated pituitary adenoma' SubClassOf 'Pituitary Gland Adenoma' -+ 'familial isolated pituitary adenoma' SubClassOf 'Pituitary Gland Adenoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0007161 -Label(s): spermatogenic failure 2 -- 'spermatogenic failure 2' SubClassOf 'azoospermia' -+ 'spermatogenic failure 2' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0007160 -Label(s): Stickler syndrome type 1 -- 'Stickler syndrome type 1' SubClassOf 'Stickler syndrome' -+ 'Stickler syndrome type 1' SubClassOf 'Stickler syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0017812 -Label(s): segmental progressive overgrowth syndrome with fibroadipose hyperplasia -- 'segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'overgrowth syndrome' -+ 'segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040002 - -Class: http://purl.obolibrary.org/obo/MONDO_0017810 -Label(s): variant ABeta2M amyloidosis -- 'variant ABeta2M amyloidosis' SubClassOf 'ABeta2M amyloidosis' -+ 'variant ABeta2M amyloidosis' SubClassOf 'ABeta2M amyloidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0007159 -Label(s): arthrogryposis-like hand anomaly-sensorineural deafness syndrome -- 'arthrogryposis-like hand anomaly-sensorineural deafness syndrome' SubClassOf 'distal arthrogryposis' -+ 'arthrogryposis-like hand anomaly-sensorineural deafness syndrome' SubClassOf 'distal arthrogryposis' - -Class: http://purl.obolibrary.org/obo/MONDO_0007158 -Label(s): arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome -- 'arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome' SubClassOf 'distal arthrogryposis' -+ 'arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome' SubClassOf 'distal arthrogryposis' - -Class: http://purl.obolibrary.org/obo/MONDO_0014619 -Label(s): trichothiodystrophy 3, photosensitive -- 'trichothiodystrophy 3, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' -+ 'trichothiodystrophy 3, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0007142 -Label(s): Townes-Brocks syndrome -- 'Townes-Brocks syndrome' SubClassOf 'syndromic disease' -+ 'Townes-Brocks syndrome' SubClassOf 'syndromic disease' ++ 'psoriatic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some 'Autoimmunity') and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'psoriasis') ++ 'psoriatic arthritis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'psoriasis' + +Class: http://purl.obolibrary.org/obo/HP_0002750 +Label(s): Delayed skeletal maturation +- 'Delayed skeletal maturation' SubClassOf 'Abnormality of the skeletal system' ++ 'Delayed skeletal maturation' SubClassOf 'Phenotypic abnormality' Class: http://purl.obolibrary.org/obo/MONDO_0007124 Label(s): ankyloblepharon-ectodermal defects-cleft lip/palate syndrome -- 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0007114 -Label(s): Angel-shaped phalango-epiphyseal dysplasia -- 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'acromelic dysplasia' -+ 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'acromelic dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0007109 -Label(s): congenital dyserythropoietic anemia type 3 -- 'congenital dyserythropoietic anemia type 3' SubClassOf 'congenital dyserythropoietic anemia' -+ 'congenital dyserythropoietic anemia type 3' SubClassOf 'congenital dyserythropoietic anemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0033821 -Label(s): fungal keratitis -- 'fungal keratitis' SubClassOf 'corneal infection' -+ 'fungal keratitis' SubClassOf 'corneal infection' - -Class: http://purl.obolibrary.org/obo/MONDO_0009999 -Label(s): autosomal recessive Robinow syndrome -- 'autosomal recessive Robinow syndrome' SubClassOf 'Robinow syndrome' -- 'autosomal recessive Robinow syndrome' SubClassOf 'autosomal recessive disease' -+ 'autosomal recessive Robinow syndrome' SubClassOf 'Robinow syndrome' -+ 'autosomal recessive Robinow syndrome' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012198 -Label(s): PCWH syndrome -- 'PCWH syndrome' SubClassOf 'syndromic disease' -+ 'PCWH syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012195 -Label(s): arthrogryposis-severe scoliosis syndrome -- 'arthrogryposis-severe scoliosis syndrome' SubClassOf 'distal arthrogryposis' -+ 'arthrogryposis-severe scoliosis syndrome' SubClassOf 'distal arthrogryposis' ++ 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040001 Class: http://purl.obolibrary.org/obo/MONDO_0012192 Label(s): permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome - 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0012191 -Label(s): hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 -- 'hepatoencephalopathy due to combined oxidative phosphorylation defect type 1' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'hepatoencephalopathy due to combined oxidative phosphorylation defect type 1' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0012185 -Label(s): spondylometaphyseal dysplasia, A4 type -- 'spondylometaphyseal dysplasia, A4 type' SubClassOf 'spondylometaphyseal dysplasia' -+ 'spondylometaphyseal dysplasia, A4 type' SubClassOf 'spondylometaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012183 -Label(s): melanoma, cutaneous malignant, susceptibility to, 3 -- 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'susceptibility to familial cutaneous melanoma' -+ 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'susceptibility to familial cutaneous melanoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0012172 -Label(s): mitochondrial trifunctional protein deficiency -- 'mitochondrial trifunctional protein deficiency' SubClassOf 'inherited lipid metabolism disorder' -+ 'mitochondrial trifunctional protein deficiency' SubClassOf 'inherited lipid metabolism disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0012166 -Label(s): autosomal dominant sensory ataxia 1 -- 'autosomal dominant sensory ataxia 1' SubClassOf 'hereditary ataxia' -+ 'autosomal dominant sensory ataxia 1' SubClassOf 'hereditary ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012163 -Label(s): immunodeficiency 104 -- 'immunodeficiency 104' SubClassOf 'familial severe combined immunodeficiency' -+ 'immunodeficiency 104' SubClassOf 'familial severe combined immunodeficiency' ++ 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0012161 Label(s): susceptibility to respiratory infections associated with CD8alpha chain mutation - 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'predisposes towards' some 'respiratory tract infectious disorder' -+ 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'respiratory tract infectious disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0012160 -Label(s): spondylometaphyseal dysplasia-cone-rod dystrophy syndrome -- 'spondylometaphyseal dysplasia-cone-rod dystrophy syndrome' SubClassOf 'spondylometaphyseal dysplasia' -+ 'spondylometaphyseal dysplasia-cone-rod dystrophy syndrome' SubClassOf 'spondylometaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012143 -Label(s): hereditary cryohydrocytosis with reduced stomatin -- 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'hereditary stomatocytosis' -+ 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'hereditary stomatocytosis' ++ 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'respiratory tract infectious disorder' Class: http://purl.obolibrary.org/obo/MONDO_0012141 Label(s): orofacial cleft 6, susceptibility to - 'orofacial cleft 6, susceptibility to' SubClassOf 'predisposes towards' some 'orofacial cleft' -+ 'orofacial cleft 6, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'orofacial cleft' - -Class: http://purl.obolibrary.org/obo/MONDO_0012138 -Label(s): muscular dystrophy-dystroglycanopathy type B6 -- 'muscular dystrophy-dystroglycanopathy type B6' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' -+ 'muscular dystrophy-dystroglycanopathy type B6' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' - -Class: http://purl.obolibrary.org/obo/MONDO_0009657 -Label(s): mucopolysaccharidosis type 3C -- 'mucopolysaccharidosis type 3C' SubClassOf 'mucopolysaccharidosis type 3' -+ 'mucopolysaccharidosis type 3C' SubClassOf 'mucopolysaccharidosis type 3' - -Class: http://purl.obolibrary.org/obo/MONDO_0012120 -Label(s): pyruvate dehydrogenase phosphatase deficiency -- 'pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' -+ 'pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0012118 -Label(s): COG7-congenital disorder of glycosylation -- 'COG7-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' -+ 'COG7-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' - -Class: http://purl.obolibrary.org/obo/MONDO_0012112 -Label(s): hypertrophic cardiomyopathy 10 -- 'hypertrophic cardiomyopathy 10' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'hypertrophic cardiomyopathy 10' SubClassOf 'familial hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0017779 -Label(s): alpha-N-acetylgalactosaminidase deficiency -- 'alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'oligosaccharidosis' -+ 'alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'oligosaccharidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0017771 -Label(s): Mayer-Rokitansky-Kuster-Hauser syndrome -- 'Mayer-Rokitansky-Kuster-Hauser syndrome' SubClassOf 'syndromic disease' -+ 'Mayer-Rokitansky-Kuster-Hauser syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0017762 -Label(s): disorder of copper metabolism -- 'disorder of copper metabolism' SubClassOf 'disorder of mineral absorption and transport' -+ 'disorder of copper metabolism' SubClassOf 'disorder of mineral absorption and transport' - -Class: http://purl.obolibrary.org/obo/MONDO_0004030 -Label(s): ureter transitional cell carcinoma -- 'ureter transitional cell carcinoma' SubClassOf 'renal pelvis/ureter urothelial carcinoma' -+ 'ureter transitional cell carcinoma' SubClassOf 'renal pelvis/ureter urothelial carcinoma' ++ 'orofacial cleft 6, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'orofacial cleft' + +Class: http://purl.obolibrary.org/obo/MONDO_0009666 +Label(s): holocarboxylase synthetase deficiency +- 'holocarboxylase synthetase deficiency' SubClassOf 'hereditary neurological disease' +- 'holocarboxylase synthetase deficiency' SubClassOf 'metabolic epilepsy' Class: http://purl.obolibrary.org/obo/MONDO_0017746 Label(s): atypical Rett syndrome - 'atypical Rett syndrome' SubClassOf 'disease shares features of' some 'Rett syndrome' -+ 'atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Rett syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0007086 -Label(s): autosomal dominant Alport syndrome -- 'autosomal dominant Alport syndrome' SubClassOf 'Alport syndrome' -- 'autosomal dominant Alport syndrome' SubClassOf 'autosomal dominant disease' -+ 'autosomal dominant Alport syndrome' SubClassOf 'Alport syndrome' -+ 'autosomal dominant Alport syndrome' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007083 -Label(s): autosomal dominant palmoplantar keratoderma and congenital alopecia -- 'autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'ectodermal dysplasia syndrome' -+ 'autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0007080 -Label(s): glucocorticoid-remediable aldosteronism -- 'glucocorticoid-remediable aldosteronism' SubClassOf 'familial hyperaldosteronism' -+ 'glucocorticoid-remediable aldosteronism' SubClassOf 'familial hyperaldosteronism' - -Class: http://purl.obolibrary.org/obo/MONDO_0017736 -Label(s): disorder of sialic acid metabolism -- 'disorder of sialic acid metabolism' SubClassOf 'lysosomal storage disease' -+ 'disorder of sialic acid metabolism' SubClassOf 'lysosomal storage disease' ++ 'atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Rett syndrome' + +Class: http://purl.obolibrary.org/obo/HP_0002659 +Label(s): Increased susceptibility to fractures +- 'Increased susceptibility to fractures' SubClassOf 'Abnormality of the skeletal system' ++ 'Increased susceptibility to fractures' SubClassOf 'Phenotypic abnormality' Class: http://purl.obolibrary.org/obo/MONDO_0007072 Label(s): ADULT syndrome -- 'ADULT syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'ADULT syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0017720 -Label(s): GM2 gangliosidosis -- 'GM2 gangliosidosis' SubClassOf 'gangliosidosis' -+ 'GM2 gangliosidosis' SubClassOf 'gangliosidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0014701 -Label(s): spondyloepiphyseal dysplasia, Stanescu type -- 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'spondyloepiphyseal dysplasia' -+ 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'spondyloepiphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0007068 -Label(s): adenylosuccinate lyase deficiency -- 'adenylosuccinate lyase deficiency' SubClassOf 'inborn disorder of purine metabolism' -+ 'adenylosuccinate lyase deficiency' SubClassOf 'inborn disorder of purine metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0004071 -Label(s): childhood cerebral astrocytoma -- 'childhood cerebral astrocytoma' SubClassOf 'cerebral astrocytoma' -+ 'childhood cerebral astrocytoma' SubClassOf 'cerebral astrocytoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0007055 -Label(s): Acromicric dysplasia -- 'Acromicric dysplasia' SubClassOf 'acromelic dysplasia' -+ 'Acromicric dysplasia' SubClassOf 'acromelic dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014719 -Label(s): developmental and epileptic encephalopathy, 35 -- 'developmental and epileptic encephalopathy, 35' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 35' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0007045 -Label(s): acrofacial dysostosis, Catania type -- 'acrofacial dysostosis, Catania type' SubClassOf 'acrofacial dysostosis' -+ 'acrofacial dysostosis, Catania type' SubClassOf 'acrofacial dysostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0007033 -Label(s): abducens nerve palsy -- 'abducens nerve palsy' SubClassOf 'abducens nerve disorder' -+ 'abducens nerve palsy' SubClassOf 'abducens nerve disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0007031 -Label(s): familial abdominal aortic aneurysm -- 'familial abdominal aortic aneurysm' SubClassOf 'Abdominal Aortic Aneurysm' -+ 'familial abdominal aortic aneurysm' SubClassOf 'Abdominal Aortic Aneurysm' - -Class: http://purl.obolibrary.org/obo/MONDO_0014765 -Label(s): wooly hair, autosomal recessive 3 -- 'wooly hair, autosomal recessive 3' SubClassOf 'isolated familial wooly hair disorder' -+ 'wooly hair, autosomal recessive 3' SubClassOf 'isolated familial wooly hair disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0015737 -Label(s): typical nemaline myopathy -- 'typical nemaline myopathy' SubClassOf 'nemaline myopathy' -+ 'typical nemaline myopathy' SubClassOf 'nemaline myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0012092 -Label(s): hereditary sensory and autonomic neuropathy type 5 -- 'hereditary sensory and autonomic neuropathy type 5' SubClassOf 'hereditary sensory and autonomic neuropathy' -+ 'hereditary sensory and autonomic neuropathy type 5' SubClassOf 'hereditary sensory and autonomic neuropathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0858939 -Label(s): diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype -- 'diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype' SubClassOf 'malignant glioma' -+ 'diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype' SubClassOf http://purl.obolibrary.org/obo/MONDO_1010030 - -Class: http://purl.obolibrary.org/obo/MONDO_0012074 -Label(s): mandibuloacral dysplasia with type B lipodystrophy -- 'mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'mandibuloacral dysplasia' -+ 'mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'mandibuloacral dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012072 -Label(s): familial partial lipodystrophy, Kobberling type -- 'familial partial lipodystrophy, Kobberling type' SubClassOf 'familial partial lipodystrophy' -+ 'familial partial lipodystrophy, Kobberling type' SubClassOf 'familial partial lipodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0015762 -Label(s): progressive familial intrahepatic cholestasis -- 'progressive familial intrahepatic cholestasis' SubClassOf 'inborn disorder of bilirubin metabolism' -+ 'progressive familial intrahepatic cholestasis' SubClassOf 'inborn disorder of bilirubin metabolism' ++ 'ADULT syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040001 Class: http://purl.obolibrary.org/obo/MONDO_0012057 Label(s): legionnaire disease, susceptibility to - 'legionnaire disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Legionnaires' disease') - 'legionnaire disease, susceptibility to' SubClassOf 'predisposes towards' some 'Legionnaires' disease' -+ 'legionnaire disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Legionnaires' disease' -+ 'legionnaire disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Legionnaires' disease') - -Class: http://purl.obolibrary.org/obo/MONDO_0012052 -Label(s): ALG1-congenital disorder of glycosylation -- 'ALG1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'ALG1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0009736 -Label(s): Neu-Laxova syndrome 1 -- 'Neu-Laxova syndrome 1' SubClassOf 'Neu-Laxova syndrome' -+ 'Neu-Laxova syndrome 1' SubClassOf 'Neu-Laxova syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0009738 -Label(s): sialidosis type 2 -- 'sialidosis type 2' SubClassOf 'lysosomal storage disease with skeletal involvement' -- 'sialidosis type 2' SubClassOf 'sialidosis' -+ 'sialidosis type 2' SubClassOf 'lysosomal storage disease with skeletal involvement' -+ 'sialidosis type 2' SubClassOf 'sialidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0012031 -Label(s): platelet-type bleeding disorder 10 -- 'platelet-type bleeding disorder 10' SubClassOf 'inherited bleeding disorder, platelet-type' -+ 'platelet-type bleeding disorder 10' SubClassOf 'inherited bleeding disorder, platelet-type' - -Class: http://purl.obolibrary.org/obo/MONDO_0009762 -Label(s): nystagmus, congenital, autosomal recessive -- 'nystagmus, congenital, autosomal recessive' SubClassOf 'congenital nystagmus' -+ 'nystagmus, congenital, autosomal recessive' SubClassOf 'congenital nystagmus' - -Class: http://purl.obolibrary.org/obo/MONDO_0012019 -Label(s): spondyloepiphyseal dysplasia, Kimberley type -- 'spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'spondyloepiphyseal dysplasia' -+ 'spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'spondyloepiphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009779 -Label(s): autosomal recessive omodysplasia -- 'autosomal recessive omodysplasia' SubClassOf 'omodysplasia' -- 'autosomal recessive omodysplasia' SubClassOf 'autosomal recessive disease' -+ 'autosomal recessive omodysplasia' SubClassOf 'omodysplasia' -+ 'autosomal recessive omodysplasia' SubClassOf 'autosomal recessive disease' ++ 'legionnaire disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Legionnaires' disease') ++ 'legionnaire disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Legionnaires' disease' Class: http://purl.obolibrary.org/obo/MONDO_0012009 Label(s): coronary heart disease, susceptibility to, 2 - 'coronary heart disease, susceptibility to, 2' SubClassOf 'predisposes towards' some 'coronary artery disease' -+ 'coronary heart disease, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'coronary artery disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0017672 -Label(s): focal palmoplantar keratoderma -- 'focal palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' -+ 'focal palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' - -Class: http://purl.obolibrary.org/obo/MONDO_0017666 -Label(s): diffuse palmoplantar keratoderma -- 'diffuse palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' -+ 'diffuse palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' - -Class: http://purl.obolibrary.org/obo/MONDO_0014810 -Label(s): pancytopenia due to IKZF1 mutations -- 'pancytopenia due to IKZF1 mutations' SubClassOf 'common variable immunodeficiency' -+ 'pancytopenia due to IKZF1 mutations' SubClassOf 'common variable immunodeficiency' - -Class: http://www.ebi.ac.uk/efo/EFO_0001068 -Label(s): malaria -- 'malaria' SubClassOf 'protozoa infectious disease' -+ 'malaria' SubClassOf 'protozoa infectious disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1000490 -Label(s): Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type -- 'Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type' SubClassOf 'diffuse large B-cell lymphoma' -+ 'Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type' SubClassOf 'diffuse large B-cell lymphoma' - -Class: http://purl.obolibrary.org/obo/GO_0006547 -Label(s): L-histidine metabolic process -- 'L-histidine metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://www.ebi.ac.uk/efo/EFO_1000979 -Label(s): hypothalamic neoplasm -- 'hypothalamic neoplasm' SubClassOf 'hypothalamic disorder' -+ 'hypothalamic neoplasm' SubClassOf 'hypothalamic disorder' - -Class: http://www.ebi.ac.uk/efo/EFO_1000595 -Label(s): Thyroid Gland Undifferentiated (Anaplastic) Carcinoma -- 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'thyroid carcinoma' -+ 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'thyroid carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0010184 -Label(s): methylmalonic aciduria and homocystinuria type cblC -- 'methylmalonic aciduria and homocystinuria type cblC' SubClassOf 'methylmalonic aciduria and homocystinuria' -+ 'methylmalonic aciduria and homocystinuria type cblC' SubClassOf 'methylmalonic aciduria and homocystinuria' - -Class: http://purl.obolibrary.org/obo/MONDO_0017596 -Label(s): diffuse large B-cell lymphoma of the central nervous system -- 'diffuse large B-cell lymphoma of the central nervous system' SubClassOf 'diffuse large B-cell lymphoma' -+ 'diffuse large B-cell lymphoma of the central nervous system' SubClassOf 'diffuse large B-cell lymphoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0017595 -Label(s): aggressive B-cell non-Hodgkin lymphoma -- 'aggressive B-cell non-Hodgkin lymphoma' SubClassOf 'B-cell non-Hodgkins lymphoma' -+ 'aggressive B-cell non-Hodgkin lymphoma' SubClassOf 'B-cell non-Hodgkins lymphoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0017579 -Label(s): Baraitser-Winter cerebrofrontofacial syndrome -- 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'syndromic disease' -+ 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0017570 -Label(s): leukocyte adhesion deficiency -- 'leukocyte adhesion deficiency' SubClassOf 'functional neutrophil defect' -+ 'leukocyte adhesion deficiency' SubClassOf 'functional neutrophil defect' - -Class: http://purl.obolibrary.org/obo/MONDO_0017569 -Label(s): de Barsy syndrome -- 'de Barsy syndrome' SubClassOf 'autosomal recessive disease' -+ 'de Barsy syndrome' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0017567 -Label(s): macrodactyly of toes, bilateral -- 'macrodactyly of toes, bilateral' SubClassOf 'macrodactyly of toes' -+ 'macrodactyly of toes, bilateral' SubClassOf 'macrodactyly of toes' - -Class: http://purl.obolibrary.org/obo/MONDO_0017565 -Label(s): macrodactyly of fingers, bilateral -- 'macrodactyly of fingers, bilateral' SubClassOf 'macrodactyly of fingers' -+ 'macrodactyly of fingers, bilateral' SubClassOf 'macrodactyly of fingers' - -Class: http://purl.obolibrary.org/obo/MONDO_0017564 -Label(s): macrodactyly of fingers, unilateral -- 'macrodactyly of fingers, unilateral' SubClassOf 'macrodactyly of fingers' -+ 'macrodactyly of fingers, unilateral' SubClassOf 'macrodactyly of fingers' - -Class: http://purl.obolibrary.org/obo/MONDO_0017563 -Label(s): congenital patella dislocation, bilateral -- 'congenital patella dislocation, bilateral' SubClassOf 'congenital patella dislocation' -+ 'congenital patella dislocation, bilateral' SubClassOf 'congenital patella dislocation' - -Class: http://purl.obolibrary.org/obo/MONDO_0017562 -Label(s): congenital patella dislocation, unilateral -- 'congenital patella dislocation, unilateral' SubClassOf 'congenital patella dislocation' -+ 'congenital patella dislocation, unilateral' SubClassOf 'congenital patella dislocation' - -Class: http://purl.obolibrary.org/obo/MONDO_0017561 -Label(s): congenital genu flexum -- 'congenital genu flexum' SubClassOf 'congenital knee dislocation' -+ 'congenital genu flexum' SubClassOf 'congenital knee dislocation' - -Class: http://purl.obolibrary.org/obo/MONDO_0017560 -Label(s): congenital genu recurvatum -- 'congenital genu recurvatum' SubClassOf 'congenital knee dislocation' -+ 'congenital genu recurvatum' SubClassOf 'congenital knee dislocation' - -Class: http://purl.obolibrary.org/obo/MONDO_0017559 -Label(s): congenital elbow dislocation, bilateral -- 'congenital elbow dislocation, bilateral' SubClassOf 'congenital elbow dislocation' -+ 'congenital elbow dislocation, bilateral' SubClassOf 'congenital elbow dislocation' - -Class: http://purl.obolibrary.org/obo/MONDO_0017558 -Label(s): congenital elbow dislocation, unilateral -- 'congenital elbow dislocation, unilateral' SubClassOf 'congenital elbow dislocation' -+ 'congenital elbow dislocation, unilateral' SubClassOf 'congenital elbow dislocation' - -Class: http://purl.obolibrary.org/obo/MONDO_0017557 -Label(s): Madelung deformity, bilateral -- 'Madelung deformity, bilateral' SubClassOf 'Madelung deformity' -+ 'Madelung deformity, bilateral' SubClassOf 'Madelung deformity' - -Class: http://purl.obolibrary.org/obo/MONDO_0017554 -Label(s): radio-ulnar synostosis, unilateral -- 'radio-ulnar synostosis, unilateral' SubClassOf 'congenital radioulnar synostosis' -+ 'radio-ulnar synostosis, unilateral' SubClassOf 'congenital radioulnar synostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0017553 -Label(s): humero-ulnar synostosis, bilateral -- 'humero-ulnar synostosis, bilateral' SubClassOf 'humero-ulnar synostosis' -+ 'humero-ulnar synostosis, bilateral' SubClassOf 'humero-ulnar synostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0017552 -Label(s): humero-ulnar synostosis, unilateral -- 'humero-ulnar synostosis, unilateral' SubClassOf 'humero-ulnar synostosis' -+ 'humero-ulnar synostosis, unilateral' SubClassOf 'humero-ulnar synostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0017551 -Label(s): humero-radial synostosis, bilateral -- 'humero-radial synostosis, bilateral' SubClassOf 'humeroradial synostosis' -+ 'humero-radial synostosis, bilateral' SubClassOf 'humeroradial synostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0017550 -Label(s): humero-radial synostosis, unilateral -- 'humero-radial synostosis, unilateral' SubClassOf 'humeroradial synostosis' -+ 'humero-radial synostosis, unilateral' SubClassOf 'humeroradial synostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0017549 -Label(s): humero-radio-ulnar synostosis, bilateral -- 'humero-radio-ulnar synostosis, bilateral' SubClassOf 'humero-radio-ulnar synostosis' -+ 'humero-radio-ulnar synostosis, bilateral' SubClassOf 'humero-radio-ulnar synostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0017548 -Label(s): humero-radio-ulnar synostosis, unilateral -- 'humero-radio-ulnar synostosis, unilateral' SubClassOf 'humero-radio-ulnar synostosis' -+ 'humero-radio-ulnar synostosis, unilateral' SubClassOf 'humero-radio-ulnar synostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0017547 -Label(s): congenital vertical talus, bilateral -- 'congenital vertical talus, bilateral' SubClassOf 'congenital vertical talus' -+ 'congenital vertical talus, bilateral' SubClassOf 'congenital vertical talus' - -Class: http://purl.obolibrary.org/obo/MONDO_0017546 -Label(s): congenital vertical talus, unilateral -- 'congenital vertical talus, unilateral' SubClassOf 'congenital vertical talus' -+ 'congenital vertical talus, unilateral' SubClassOf 'congenital vertical talus' - -Class: http://purl.obolibrary.org/obo/MONDO_0017545 -Label(s): zygodactyly type 4 -- 'zygodactyly type 4' SubClassOf 'syndactyly type 1' -+ 'zygodactyly type 4' SubClassOf 'syndactyly type 1' - -Class: http://purl.obolibrary.org/obo/MONDO_0017544 -Label(s): zygodactyly type 3 -- 'zygodactyly type 3' SubClassOf 'syndactyly type 1' -+ 'zygodactyly type 3' SubClassOf 'syndactyly type 1' - -Class: http://purl.obolibrary.org/obo/MONDO_0017538 -Label(s): Preaxial polydactyly of toes, bilateral -- 'Preaxial polydactyly of toes, bilateral' SubClassOf 'Preaxial polydactyly of toes' -+ 'Preaxial polydactyly of toes, bilateral' SubClassOf 'Preaxial polydactyly of toes' - -Class: http://purl.obolibrary.org/obo/MONDO_0017537 -Label(s): Preaxial polydactyly of toes, unilateral -- 'Preaxial polydactyly of toes, unilateral' SubClassOf 'Preaxial polydactyly of toes' -+ 'Preaxial polydactyly of toes, unilateral' SubClassOf 'Preaxial polydactyly of toes' - -Class: http://purl.obolibrary.org/obo/MONDO_0957955 -Label(s): immunodeficiency 114, folate-responsive -+ 'immunodeficiency 114, folate-responsive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0971066 - -Class: http://purl.obolibrary.org/obo/MONDO_0017529 -Label(s): polysyndactyly, unilateral -- 'polysyndactyly, unilateral' SubClassOf 'polysyndactyly 4' -+ 'polysyndactyly, unilateral' SubClassOf 'polysyndactyly 4' - -Class: http://purl.obolibrary.org/obo/MONDO_0017525 -Label(s): polydactyly of a triphalangeal thumb, unilateral -- 'polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'polydactyly of a triphalangeal thumb' -+ 'polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'polydactyly of a triphalangeal thumb' - -Class: http://purl.obolibrary.org/obo/MONDO_0017521 -Label(s): hyperphalangy, unilateral -- 'hyperphalangy, unilateral' SubClassOf 'hyperphalangy' -+ 'hyperphalangy, unilateral' SubClassOf 'hyperphalangy' - -Class: http://purl.obolibrary.org/obo/MONDO_0017513 -Label(s): split foot, unilateral -- 'split foot, unilateral' SubClassOf 'split foot' -+ 'split foot, unilateral' SubClassOf 'split foot' - -Class: http://purl.obolibrary.org/obo/MONDO_0017505 -Label(s): apodia, bilateral -- 'apodia, bilateral' SubClassOf 'apodia' -+ 'apodia, bilateral' SubClassOf 'apodia' - -Class: http://purl.obolibrary.org/obo/MONDO_0017503 -Label(s): acheiria, bilateral -- 'acheiria, bilateral' SubClassOf 'acheiria' -+ 'acheiria, bilateral' SubClassOf 'acheiria' - -Class: http://purl.obolibrary.org/obo/MONDO_0017502 -Label(s): acheiria, unilateral -- 'acheiria, unilateral' SubClassOf 'acheiria' -+ 'acheiria, unilateral' SubClassOf 'acheiria' - -Class: http://purl.obolibrary.org/obo/MONDO_0017501 -Label(s): congenital absence of both lower leg and foot, bilateral -- 'congenital absence of both lower leg and foot, bilateral' SubClassOf 'congenital absence of both lower leg and foot' -+ 'congenital absence of both lower leg and foot, bilateral' SubClassOf 'congenital absence of both lower leg and foot' - -Class: http://purl.obolibrary.org/obo/MONDO_0017500 -Label(s): congenital absence of both lower leg and foot, unilateral -- 'congenital absence of both lower leg and foot, unilateral' SubClassOf 'congenital absence of both lower leg and foot' -+ 'congenital absence of both lower leg and foot, unilateral' SubClassOf 'congenital absence of both lower leg and foot' - -Class: http://www.ebi.ac.uk/efo/EFO_0005578 -Label(s): pituitary cancer -- 'pituitary cancer' SubClassOf 'malignant endocrine neoplasm' -+ 'pituitary cancer' SubClassOf 'malignant endocrine neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_0005582 -Label(s): renal pelvis carcinoma -- 'renal pelvis carcinoma' SubClassOf 'malignant renal pelvis neoplasm' -+ 'renal pelvis carcinoma' SubClassOf 'malignant renal pelvis neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0002581 -Label(s): spindle cell rhabdomyosarcoma -- 'spindle cell rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' -+ 'spindle cell rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0002350 -Label(s): familial nephrotic syndrome -- 'familial nephrotic syndrome' SubClassOf 'nephrotic syndrome' -+ 'familial nephrotic syndrome' SubClassOf 'nephrotic syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0017499 -Label(s): congenital absence of both forearm and hand, bilateral -- 'congenital absence of both forearm and hand, bilateral' SubClassOf 'congenital absence of both forearm and hand' -+ 'congenital absence of both forearm and hand, bilateral' SubClassOf 'congenital absence of both forearm and hand' - -Class: http://purl.obolibrary.org/obo/MONDO_0017498 -Label(s): congenital absence of both forearm and hand, unilateral -- 'congenital absence of both forearm and hand, unilateral' SubClassOf 'congenital absence of both forearm and hand' -+ 'congenital absence of both forearm and hand, unilateral' SubClassOf 'congenital absence of both forearm and hand' - -Class: http://purl.obolibrary.org/obo/MONDO_0017493 -Label(s): fibular hemimelia, bilateral -- 'fibular hemimelia, bilateral' SubClassOf 'fibular hemimelia' -+ 'fibular hemimelia, bilateral' SubClassOf 'fibular hemimelia' - -Class: http://purl.obolibrary.org/obo/MONDO_0017492 -Label(s): fibular hemimelia, unilateral -- 'fibular hemimelia, unilateral' SubClassOf 'fibular hemimelia' -+ 'fibular hemimelia, unilateral' SubClassOf 'fibular hemimelia' - -Class: http://purl.obolibrary.org/obo/MONDO_0017491 -Label(s): tibial hemimelia, bilateral -- 'tibial hemimelia, bilateral' SubClassOf 'tibial hemimelia' -+ 'tibial hemimelia, bilateral' SubClassOf 'tibial hemimelia' - -Class: http://purl.obolibrary.org/obo/MONDO_0017490 -Label(s): tibial hemimelia, unilateral -- 'tibial hemimelia, unilateral' SubClassOf 'tibial hemimelia' -+ 'tibial hemimelia, unilateral' SubClassOf 'tibial hemimelia' - -Class: http://purl.obolibrary.org/obo/MONDO_0002586 -Label(s): thymus cancer -- 'thymus cancer' SubClassOf 'malignant endocrine neoplasm' -+ 'thymus cancer' SubClassOf 'malignant endocrine neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0017488 -Label(s): ulnar hemimelia, bilateral -- 'ulnar hemimelia, bilateral' SubClassOf 'ulnar hemimelia' -+ 'ulnar hemimelia, bilateral' SubClassOf 'ulnar hemimelia' - -Class: http://purl.obolibrary.org/obo/MONDO_0017487 -Label(s): radial hemimelia, bilateral -- 'radial hemimelia, bilateral' SubClassOf 'radial hemimelia' -+ 'radial hemimelia, bilateral' SubClassOf 'radial hemimelia' - -Class: http://purl.obolibrary.org/obo/MONDO_0017486 -Label(s): radial hemimelia, unilateral -- 'radial hemimelia, unilateral' SubClassOf 'radial hemimelia' -+ 'radial hemimelia, unilateral' SubClassOf 'radial hemimelia' - -Class: http://purl.obolibrary.org/obo/MONDO_0017481 -Label(s): amelia of lower limb, bilateral -- 'amelia of lower limb, bilateral' SubClassOf 'amelia of lower limb' -+ 'amelia of lower limb, bilateral' SubClassOf 'amelia of lower limb' - -Class: http://purl.obolibrary.org/obo/MONDO_0017480 -Label(s): amelia of lower limb, unilateral -- 'amelia of lower limb, unilateral' SubClassOf 'amelia of lower limb' -+ 'amelia of lower limb, unilateral' SubClassOf 'amelia of lower limb' - -Class: http://purl.obolibrary.org/obo/MONDO_0017479 -Label(s): amelia of upper limb, bilateral -- 'amelia of upper limb, bilateral' SubClassOf 'amelia of upper limb' -+ 'amelia of upper limb, bilateral' SubClassOf 'amelia of upper limb' - -Class: http://purl.obolibrary.org/obo/MONDO_0017478 -Label(s): amelia of upper limb, unilateral -- 'amelia of upper limb, unilateral' SubClassOf 'amelia of upper limb' -+ 'amelia of upper limb, unilateral' SubClassOf 'amelia of upper limb' ++ 'coronary heart disease, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease' + +Class: http://purl.obolibrary.org/obo/FBbt_00007049 +Label(s): head visceral muscle primordium +- 'head visceral muscle primordium' SubClassOf 'visceral muscle primordium' ++ 'head visceral muscle primordium' SubClassOf 'Drosophila developmental tissue' Class: http://purl.obolibrary.org/obo/MONDO_0017454 Label(s): triphalangeal thumb-polysyndactyly syndrome - 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'disease has major feature' some 'polydactyly of a triphalangeal thumb' -+ 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'polydactyly of a triphalangeal thumb' - -Class: http://purl.obolibrary.org/obo/MONDO_0017436 -Label(s): lethal congenital contracture syndrome -- 'lethal congenital contracture syndrome' SubClassOf 'arthrogryposis syndrome' -+ 'lethal congenital contracture syndrome' SubClassOf 'arthrogryposis syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0958235 -Label(s): Ullrich congenital muscular dystrophy 1B -- 'Ullrich congenital muscular dystrophy 1B' SubClassOf 'Ullrich congenital muscular dystrophy' -+ 'Ullrich congenital muscular dystrophy 1B' SubClassOf 'Ullrich congenital muscular dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0030515 -Label(s): spermatogenic failure 63 -- 'spermatogenic failure 63' SubClassOf 'azoospermia' -+ 'spermatogenic failure 63' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0017415 -Label(s): multiple pterygium syndrome -- 'multiple pterygium syndrome' SubClassOf 'arthrogryposis syndrome' -+ 'multiple pterygium syndrome' SubClassOf 'arthrogryposis syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0001208 -Label(s): acute respiratory failure -- 'acute respiratory failure' SubClassOf 'respiratory failure' -+ 'acute respiratory failure' SubClassOf 'respiratory failure' - -Class: http://purl.obolibrary.org/obo/MONDO_0004976 -Label(s): amyotrophic lateral sclerosis -- 'amyotrophic lateral sclerosis' SubClassOf 'motor neuron disease' -+ 'amyotrophic lateral sclerosis' SubClassOf 'motor neuron disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007700 -Label(s): hawkinsinuria -- 'hawkinsinuria' SubClassOf 'disorder of tyrosine metabolism' -+ 'hawkinsinuria' SubClassOf 'disorder of tyrosine metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0004943 -Label(s): orbit sarcoma -- 'orbit sarcoma' SubClassOf 'sarcoma' -+ 'orbit sarcoma' SubClassOf 'sarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0000127 -Label(s): geleophysic dysplasia -- 'geleophysic dysplasia' SubClassOf 'acromelic dysplasia' -+ 'geleophysic dysplasia' SubClassOf 'acromelic dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008222 -Label(s): Andersen-Tawil syndrome -- 'Andersen-Tawil syndrome' SubClassOf 'familial periodic paralysis' -- 'Andersen-Tawil syndrome' SubClassOf 'familial long QT syndrome' -+ 'Andersen-Tawil syndrome' SubClassOf 'familial periodic paralysis' -+ 'Andersen-Tawil syndrome' SubClassOf 'familial long QT syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0030927 -Label(s): myofibrillar myopathy 11 -- 'myofibrillar myopathy 11' SubClassOf 'myofibrillar myopathy' -+ 'myofibrillar myopathy 11' SubClassOf 'myofibrillar myopathy' - -Class: http://purl.obolibrary.org/obo/GO_0008614 -Label(s): pyridoxine metabolic process -- 'pyridoxine metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0017392 -Label(s): pre-descemet corneal dystrophy -- 'pre-descemet corneal dystrophy' SubClassOf 'stromal corneal dystrophy' -+ 'pre-descemet corneal dystrophy' SubClassOf 'stromal corneal dystrophy' ++ 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'polydactyly of a triphalangeal thumb' ++ 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'genetic disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_1040030 +Label(s): GBA1-related Parkinson disease, susceptibility +- 'GBA1-related Parkinson disease, susceptibility' SubClassOf 'predisposes towards' some 'Parkinson disease' ++ 'GBA1-related Parkinson disease, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Parkinson disease' Class: http://purl.obolibrary.org/obo/MONDO_0017389 Label(s): tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria - 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'disease responds to' some 'sapropterin' -+ 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'sapropterin' - -Class: http://purl.obolibrary.org/obo/MONDO_0017386 -Label(s): pleomorphic rhabdomyosarcoma -- 'pleomorphic rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' -+ 'pleomorphic rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0004129 -Label(s): familial amyloid neuropathy -- 'familial amyloid neuropathy' SubClassOf 'hereditary amyloidosis' -+ 'familial amyloid neuropathy' SubClassOf 'hereditary amyloidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0017359 -Label(s): 3-methylglutaconic aciduria -- '3-methylglutaconic aciduria' SubClassOf 'classic organic aciduria' -+ '3-methylglutaconic aciduria' SubClassOf 'classic organic aciduria' - -Class: http://purl.obolibrary.org/obo/MONDO_0017354 -Label(s): infantile glycine encephalopathy -- 'infantile glycine encephalopathy' SubClassOf 'glycine encephalopathy' -+ 'infantile glycine encephalopathy' SubClassOf 'glycine encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0017346 -Label(s): Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly -- 'Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly' SubClassOf 'diffuse large B-cell lymphoma' -+ 'Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly' SubClassOf 'diffuse large B-cell lymphoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000729 -Label(s): loiasis -- 'loiasis' SubClassOf 'filariasis' -+ 'loiasis' SubClassOf 'filariasis' - -Class: http://purl.obolibrary.org/obo/MONDO_0017324 -Label(s): autosomal recessive hypophosphatemic rickets -- 'autosomal recessive hypophosphatemic rickets' SubClassOf 'autosomal recessive disease' -+ 'autosomal recessive hypophosphatemic rickets' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0017305 -Label(s): syndromic oculocutaneous albinism -- 'syndromic oculocutaneous albinism' SubClassOf 'hypopigmentation of the skin' -+ 'syndromic oculocutaneous albinism' SubClassOf 'hypopigmentation of the skin' - -Class: http://purl.obolibrary.org/obo/MONDO_0008295 -Label(s): sporadic porphyria cutanea tarda -- 'sporadic porphyria cutanea tarda' SubClassOf 'porphyria cutanea tarda' -- 'sporadic porphyria cutanea tarda' SubClassOf 'acquired metabolic disease' -+ 'sporadic porphyria cutanea tarda' SubClassOf 'porphyria cutanea tarda' -+ 'sporadic porphyria cutanea tarda' SubClassOf http://purl.obolibrary.org/obo/MONDO_1030015 - -Class: http://purl.obolibrary.org/obo/MONDO_0032637 -Label(s): ciliary dyskinesia, primary, 39 -- 'ciliary dyskinesia, primary, 39' SubClassOf 'primary ciliary dyskinesia' -+ 'ciliary dyskinesia, primary, 39' SubClassOf 'primary ciliary dyskinesia' - -Class: http://purl.obolibrary.org/obo/MONDO_0004885 -Label(s): choroidal sclerosis -- 'choroidal sclerosis' SubClassOf 'optic choroid disorder' -+ 'choroidal sclerosis' SubClassOf 'optic choroid disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0004863 -Label(s): purulent endophthalmitis -- 'purulent endophthalmitis' SubClassOf 'endophthalmitis' -+ 'purulent endophthalmitis' SubClassOf 'endophthalmitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0018993 -Label(s): Charcot-Marie-Tooth disease type 2 -- 'Charcot-Marie-Tooth disease type 2' SubClassOf 'Charcot-Marie-Tooth disease' -+ 'Charcot-Marie-Tooth disease type 2' SubClassOf 'Charcot-Marie-Tooth disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0004828 -Label(s): lower urinary tract calculus -- 'lower urinary tract calculus' SubClassOf 'urolithiasis' -+ 'lower urinary tract calculus' SubClassOf 'urolithiasis' - -Class: http://purl.obolibrary.org/obo/MONDO_0004826 -Label(s): urethral calculus -- 'urethral calculus' SubClassOf 'urethral disease' -+ 'urethral calculus' SubClassOf 'urethral disease' - -Class: http://purl.obolibrary.org/obo/GO_0006665 -Label(s): sphingolipid metabolic process -- 'sphingolipid metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0017283 -Label(s): DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion -- 'DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion' SubClassOf 'DeSanto-Shinawi syndrome' -+ 'DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion' SubClassOf 'DeSanto-Shinawi syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0017268 -Label(s): acral self-healing collodion baby -- 'acral self-healing collodion baby' SubClassOf 'autosomal recessive congenital ichthyosis' -+ 'acral self-healing collodion baby' SubClassOf 'autosomal recessive congenital ichthyosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0017267 -Label(s): self-healing collodion baby -- 'self-healing collodion baby' SubClassOf 'autosomal recessive congenital ichthyosis' -+ 'self-healing collodion baby' SubClassOf 'autosomal recessive congenital ichthyosis' - -Class: http://www.ebi.ac.uk/efo/EFO_0003104 -Label(s): adrenocortical adenoma -- 'adrenocortical adenoma' SubClassOf 'adenoma' -+ 'adrenocortical adenoma' SubClassOf 'adenoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000829 -Label(s): bacterial conjunctivitis -- 'bacterial conjunctivitis' SubClassOf 'bacterial disease' -+ 'bacterial conjunctivitis' SubClassOf 'bacterial disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0017209 -Label(s): infectious posterior uveitis -- 'infectious posterior uveitis' SubClassOf 'choroiditis' -+ 'infectious posterior uveitis' SubClassOf 'choroiditis' - -Class: http://purl.obolibrary.org/obo/MONDO_0054813 -Label(s): Ehlers-Danlos syndrome, classic-like, 2 -- 'Ehlers-Danlos syndrome, classic-like, 2' SubClassOf 'Ehlers-Danlos syndrome' -- 'Ehlers-Danlos syndrome, classic-like, 2' SubClassOf 'autosomal recessive disease' -+ 'Ehlers-Danlos syndrome, classic-like, 2' SubClassOf 'Ehlers-Danlos syndrome' -+ 'Ehlers-Danlos syndrome, classic-like, 2' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0015244 -Label(s): autosomal recessive cerebellar ataxia -- 'autosomal recessive cerebellar ataxia' SubClassOf 'autosomal recessive disease' -+ 'autosomal recessive cerebellar ataxia' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0032940 -Label(s): retinitis pigmentosa 88 -- 'retinitis pigmentosa 88' SubClassOf 'retinitis pigmentosa' -+ 'retinitis pigmentosa 88' SubClassOf 'retinitis pigmentosa' - -Class: http://purl.obolibrary.org/obo/MONDO_0032937 -Label(s): myopathy, congenital proximal, with minicore lesions -- 'myopathy, congenital proximal, with minicore lesions' SubClassOf 'congenital myopathy' -+ 'myopathy, congenital proximal, with minicore lesions' SubClassOf 'congenital myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0032936 -Label(s): myopathy, congenital, with respiratory insufficiency and bone fractures -- 'myopathy, congenital, with respiratory insufficiency and bone fractures' SubClassOf 'congenital myopathy' -+ 'myopathy, congenital, with respiratory insufficiency and bone fractures' SubClassOf 'congenital myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0004757 -Label(s): chronic ethmoidal sinusitis -- 'chronic ethmoidal sinusitis' SubClassOf 'chronic rhinosinusitis' -+ 'chronic ethmoidal sinusitis' SubClassOf 'chronic rhinosinusitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0032924 -Label(s): ciliary dyskinesia, primary, 45 -- 'ciliary dyskinesia, primary, 45' SubClassOf 'primary ciliary dyskinesia' -+ 'ciliary dyskinesia, primary, 45' SubClassOf 'primary ciliary dyskinesia' - -Class: http://purl.obolibrary.org/obo/MONDO_0032923 -Label(s): spinocerebellar ataxia, autosomal recessive 28 -- 'spinocerebellar ataxia, autosomal recessive 28' SubClassOf 'autosomal recessive cerebellar ataxia' -+ 'spinocerebellar ataxia, autosomal recessive 28' SubClassOf 'autosomal recessive cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0032918 -Label(s): developmental and epileptic encephalopathy, 84 -- 'developmental and epileptic encephalopathy, 84' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 84' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0032917 -Label(s): hearing loss, autosomal dominant 76 -- 'hearing loss, autosomal dominant 76' SubClassOf 'autosomal dominant nonsyndromic hearing loss' -+ 'hearing loss, autosomal dominant 76' SubClassOf 'autosomal dominant nonsyndromic hearing loss' - -Class: http://purl.obolibrary.org/obo/MONDO_0032914 -Label(s): ciliary dyskinesia, primary, 44 -- 'ciliary dyskinesia, primary, 44' SubClassOf 'primary ciliary dyskinesia' -+ 'ciliary dyskinesia, primary, 44' SubClassOf 'primary ciliary dyskinesia' - -Class: http://purl.obolibrary.org/obo/MONDO_0032912 -Label(s): Coffin-Siris syndrome 11 -- 'Coffin-Siris syndrome 11' SubClassOf 'Coffin-Siris syndrome' -+ 'Coffin-Siris syndrome 11' SubClassOf 'Coffin-Siris syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0032911 -Label(s): hearing loss, autosomal dominant 75 -- 'hearing loss, autosomal dominant 75' SubClassOf 'autosomal dominant nonsyndromic hearing loss' -+ 'hearing loss, autosomal dominant 75' SubClassOf 'autosomal dominant nonsyndromic hearing loss' - -Class: http://purl.obolibrary.org/obo/MONDO_0032910 -Label(s): mitochondrial complex 1 deficiency, nuclear type 34 -- 'mitochondrial complex 1 deficiency, nuclear type 34' SubClassOf 'mitochondrial complex I deficiency, nuclear type' -+ 'mitochondrial complex 1 deficiency, nuclear type 34' SubClassOf 'mitochondrial complex I deficiency, nuclear type' - -Class: http://purl.obolibrary.org/obo/MONDO_0004737 -Label(s): homocystinuria -- 'homocystinuria' SubClassOf 'inborn disorder of amino acid metabolism' -+ 'homocystinuria' SubClassOf 'inborn disorder of amino acid metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0032904 -Label(s): corneal dystrophy, Meesmann, 2 -- 'corneal dystrophy, Meesmann, 2' SubClassOf 'Meesmann corneal dystrophy' -+ 'corneal dystrophy, Meesmann, 2' SubClassOf 'Meesmann corneal dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0032903 -Label(s): arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum -- 'arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum' SubClassOf 'arthrogryposis multiplex congenita' -+ 'arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum' SubClassOf 'arthrogryposis multiplex congenita' - -Class: http://purl.obolibrary.org/obo/MONDO_0004700 -Label(s): parotid gland cancer -- 'parotid gland cancer' SubClassOf 'major salivary gland cancer' -+ 'parotid gland cancer' SubClassOf 'major salivary gland cancer' - -Class: http://www.ebi.ac.uk/efo/EFO_0003096 -Label(s): Pick disease -- 'Pick disease' SubClassOf 'frontotemporal dementia' -+ 'Pick disease' SubClassOf 'frontotemporal dementia' - -Class: http://www.ebi.ac.uk/efo/EFO_0003094 -Label(s): ganglioglioma -- 'ganglioglioma' SubClassOf 'mixed neuronal-glial tumor' -+ 'ganglioglioma' SubClassOf 'mixed neuronal-glial tumor' - -Class: http://purl.obolibrary.org/obo/MONDO_0010816 -Label(s): Qazi Markouizos syndrome -- 'Qazi Markouizos syndrome' SubClassOf 'syndromic disease' -+ 'Qazi Markouizos syndrome' SubClassOf 'syndromic disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0003085 -Label(s): dedifferentiated liposarcoma -- 'dedifferentiated liposarcoma' SubClassOf 'liposarcoma' -+ 'dedifferentiated liposarcoma' SubClassOf 'liposarcoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0003063 -Label(s): polymyositis -- 'polymyositis' SubClassOf 'acquired idiopathic inflammatory myopathy' -+ 'polymyositis' SubClassOf 'acquired idiopathic inflammatory myopathy' - -Class: http://www.ebi.ac.uk/efo/EFO_0003032 -Label(s): anaplastic large cell lymphoma -- 'anaplastic large cell lymphoma' SubClassOf 'mature T-cell and NK-cell non-Hodgkin lymphoma' -+ 'anaplastic large cell lymphoma' SubClassOf 'mature T-cell and NK-cell non-Hodgkin lymphoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0032845 -Label(s): spermatogenic failure 39 -- 'spermatogenic failure 39' SubClassOf 'azoospermia' -+ 'spermatogenic failure 39' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0017139 -Label(s): oromandibular-limb hypogenesis syndrome -- 'oromandibular-limb hypogenesis syndrome' SubClassOf 'oromandibular-limb anomalies syndrome' -+ 'oromandibular-limb hypogenesis syndrome' SubClassOf 'oromandibular-limb anomalies syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0017138 -Label(s): Opitz G/BBB syndrome -- 'Opitz G/BBB syndrome' SubClassOf 'syndromic disease' -+ 'Opitz G/BBB syndrome' SubClassOf 'syndromic disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0008613 -Label(s): pemphigus vegetans -- 'pemphigus vegetans' SubClassOf 'pemphigus vulgaris' -+ 'pemphigus vegetans' SubClassOf 'pemphigus vulgaris' - -Class: http://purl.obolibrary.org/obo/MONDO_0032891 -Label(s): aneurysm, intracranial berry, 12 -- 'aneurysm, intracranial berry, 12' SubClassOf 'intracranial berry aneurysm' -+ 'aneurysm, intracranial berry, 12' SubClassOf 'intracranial berry aneurysm' - -Class: http://www.ebi.ac.uk/efo/EFO_0008603 -Label(s): pemphigus erythematosus -- 'pemphigus erythematosus' SubClassOf 'pemphigus' -+ 'pemphigus erythematosus' SubClassOf 'pemphigus' - -Class: http://www.ebi.ac.uk/efo/EFO_0008601 -Label(s): pemphigus foliaceus -- 'pemphigus foliaceus' SubClassOf 'pemphigus' -+ 'pemphigus foliaceus' SubClassOf 'pemphigus' - -Class: http://purl.obolibrary.org/obo/MONDO_0012605 -Label(s): isolated microphthalmia 5 -- 'isolated microphthalmia 5' SubClassOf 'isolated microphthalmia' -+ 'isolated microphthalmia 5' SubClassOf 'isolated microphthalmia' - -Class: http://purl.obolibrary.org/obo/MONDO_0032874 -Label(s): ciliary dyskinesia, primary, 43 -- 'ciliary dyskinesia, primary, 43' SubClassOf 'primary ciliary dyskinesia' -+ 'ciliary dyskinesia, primary, 43' SubClassOf 'primary ciliary dyskinesia' - -Class: http://purl.obolibrary.org/obo/MONDO_0004699 -Label(s): gastrointestinal lymphoma -- 'gastrointestinal lymphoma' SubClassOf 'lymphoma' -+ 'gastrointestinal lymphoma' SubClassOf 'lymphoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0032906 -Label(s): spastic paraplegia 82, autosomal recessive -- 'spastic paraplegia 82, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' -+ 'spastic paraplegia 82, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' - -Class: http://purl.obolibrary.org/obo/MONDO_0004695 -Label(s): liver lymphoma -- 'liver lymphoma' SubClassOf 'liver cancer' -+ 'liver lymphoma' SubClassOf 'liver cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0032869 -Label(s): mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 -- 'mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' -+ 'mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0032863 -Label(s): spermatogenic failure 41 -- 'spermatogenic failure 41' SubClassOf 'azoospermia' -+ 'spermatogenic failure 41' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012803 -Label(s): diarrhea-vomiting due to trehalase deficiency -- 'diarrhea-vomiting due to trehalase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' -+ 'diarrhea-vomiting due to trehalase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' - -Class: http://purl.obolibrary.org/obo/MONDO_0004686 -Label(s): lattice corneal dystrophy -- 'lattice corneal dystrophy' SubClassOf 'stromal corneal dystrophy' -+ 'lattice corneal dystrophy' SubClassOf 'stromal corneal dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0032859 -Label(s): spermatogenic failure 40 -- 'spermatogenic failure 40' SubClassOf 'azoospermia' -+ 'spermatogenic failure 40' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0054726 -Label(s): spermatogenic failure 22 -- 'spermatogenic failure 22' SubClassOf 'azoospermia' -+ 'spermatogenic failure 22' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0032885 -Label(s): spondyloepimetaphyseal dysplasia, Isidor-Toutain type -- 'spondyloepimetaphyseal dysplasia, Isidor-Toutain type' SubClassOf 'genetic disorder' -+ 'spondyloepimetaphyseal dysplasia, Isidor-Toutain type' SubClassOf 'spondyloepimetaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0032895 -Label(s): developmental and epileptic encephalopathy, 83 -- 'developmental and epileptic encephalopathy, 83' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 83' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0032896 -Label(s): spermatogenic failure 42 -- 'spermatogenic failure 42' SubClassOf 'azoospermia' -+ 'spermatogenic failure 42' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0032898 -Label(s): spermatogenic failure 43 -- 'spermatogenic failure 43' SubClassOf 'azoospermia' -+ 'spermatogenic failure 43' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0004667 -Label(s): sublingual gland cancer -- 'sublingual gland cancer' SubClassOf 'major salivary gland cancer' -+ 'sublingual gland cancer' SubClassOf 'major salivary gland cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0032837 -Label(s): abdominal obesity-metabolic syndrome 4 -- 'abdominal obesity-metabolic syndrome 4' SubClassOf 'abdominal obesity-metabolic syndrome' -+ 'abdominal obesity-metabolic syndrome 4' SubClassOf 'abdominal obesity-metabolic syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0004650 -Label(s): malignant carotid body paraganglioma -- 'malignant carotid body paraganglioma' SubClassOf 'vascular cancer' -+ 'malignant carotid body paraganglioma' SubClassOf 'vascular cancer' - -Class: http://www.ebi.ac.uk/efo/EFO_0000365 -Label(s): colorectal adenocarcinoma -- 'colorectal adenocarcinoma' SubClassOf 'colorectal carcinoma' -- 'colorectal adenocarcinoma' SubClassOf 'adenocarcinoma' -+ 'colorectal adenocarcinoma' SubClassOf 'colorectal carcinoma' -+ 'colorectal adenocarcinoma' SubClassOf 'adenocarcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0004636 -Label(s): lip carcinoma in situ -- 'lip carcinoma in situ' SubClassOf 'oral cavity carcinoma in situ' -+ 'lip carcinoma in situ' SubClassOf 'oral cavity carcinoma in situ' - -Class: http://purl.obolibrary.org/obo/MONDO_0017147 -Label(s): idiopathic pulmonary arterial hypertension -- 'idiopathic pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' -+ 'idiopathic pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' - -Class: http://purl.obolibrary.org/obo/MONDO_0016539 -Label(s): atypical hypotonia-cystinuria syndrome -- 'atypical hypotonia-cystinuria syndrome' SubClassOf 'hypotonia-cystinuria syndrome' -+ 'atypical hypotonia-cystinuria syndrome' SubClassOf 'hypotonia-cystinuria syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0027772 -Label(s): lung colloid adenocarcinoma -- 'lung colloid adenocarcinoma' SubClassOf 'mucinous carcinoma' -+ 'lung colloid adenocarcinoma' SubClassOf 'mucinous carcinoma' ++ 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'sapropterin' + +Class: http://purl.obolibrary.org/obo/HP_0005616 +Label(s): Accelerated skeletal maturation +- 'Accelerated skeletal maturation' SubClassOf 'Abnormality of the skeletal system' ++ 'Accelerated skeletal maturation' SubClassOf 'Phenotypic abnormality' + +Class: http://purl.obolibrary.org/obo/MONDO_0032814 +Label(s): microangiopathy and leukoencephalopathy, pontine, autosomal dominant ++ 'microangiopathy and leukoencephalopathy, pontine, autosomal dominant' SubClassOf 'COL4A1-related disorder' Class: http://purl.obolibrary.org/obo/MONDO_0027766 Label(s): generalized lipodystrophy - 'generalized lipodystrophy' EquivalentTo 'lipodystrophy' and ('disease has major feature' some 'Generalized lipodystrophy') - 'generalized lipodystrophy' SubClassOf 'disease has major feature' some 'Generalized lipodystrophy' -+ 'generalized lipodystrophy' EquivalentTo 'lipodystrophy' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Generalized lipodystrophy') -+ 'generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Generalized lipodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0017093 -Label(s): unilateral focal polymicrogyria -- 'unilateral focal polymicrogyria' SubClassOf 'unilateral polymicrogyria' -+ 'unilateral focal polymicrogyria' SubClassOf 'unilateral polymicrogyria' - -Class: http://purl.obolibrary.org/obo/MONDO_0017092 -Label(s): unilateral polymicrogyria -- 'unilateral polymicrogyria' SubClassOf 'polymicrogyria' -+ 'unilateral polymicrogyria' SubClassOf 'polymicrogyria' - -Class: http://purl.obolibrary.org/obo/MONDO_0017091 -Label(s): bilateral polymicrogyria -- 'bilateral polymicrogyria' SubClassOf 'polymicrogyria' -+ 'bilateral polymicrogyria' SubClassOf 'polymicrogyria' - -Class: http://purl.obolibrary.org/obo/MONDO_0017077 -Label(s): myelocystocele -- 'myelocystocele' SubClassOf 'spina bifida cystica' -+ 'myelocystocele' SubClassOf 'spina bifida cystica' - -Class: http://purl.obolibrary.org/obo/MONDO_0017076 -Label(s): posterior meningocele -- 'posterior meningocele' SubClassOf 'spina bifida cystica' -+ 'posterior meningocele' SubClassOf 'spina bifida cystica' - -Class: http://purl.obolibrary.org/obo/MONDO_0017068 -Label(s): upper thoracic spina bifida aperta -- 'upper thoracic spina bifida aperta' SubClassOf 'spina bifida aperta' -+ 'upper thoracic spina bifida aperta' SubClassOf 'spina bifida aperta' - -Class: http://purl.obolibrary.org/obo/MONDO_0017067 -Label(s): cervicothoracic spina bifida aperta -- 'cervicothoracic spina bifida aperta' SubClassOf 'spina bifida aperta' -+ 'cervicothoracic spina bifida aperta' SubClassOf 'spina bifida aperta' - -Class: http://purl.obolibrary.org/obo/MONDO_0017066 -Label(s): cervical spina bifida aperta -- 'cervical spina bifida aperta' SubClassOf 'spina bifida aperta' -+ 'cervical spina bifida aperta' SubClassOf 'spina bifida aperta' - -Class: http://purl.obolibrary.org/obo/MONDO_0017065 -Label(s): lumbosacral spina bifida aperta -- 'lumbosacral spina bifida aperta' SubClassOf 'spina bifida aperta' -+ 'lumbosacral spina bifida aperta' SubClassOf 'spina bifida aperta' - -Class: http://purl.obolibrary.org/obo/MONDO_0017064 -Label(s): thoracolumbosacral spina bifida aperta -- 'thoracolumbosacral spina bifida aperta' SubClassOf 'spina bifida aperta' -+ 'thoracolumbosacral spina bifida aperta' SubClassOf 'spina bifida aperta' - -Class: http://purl.obolibrary.org/obo/MONDO_0017063 -Label(s): total spina bifida aperta -- 'total spina bifida aperta' SubClassOf 'spina bifida aperta' -+ 'total spina bifida aperta' SubClassOf 'spina bifida aperta' - -Class: http://purl.obolibrary.org/obo/MONDO_0017061 -Label(s): closed iniencephaly -- 'closed iniencephaly' SubClassOf 'iniencephaly' -+ 'closed iniencephaly' SubClassOf 'iniencephaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0017060 -Label(s): open iniencephaly -- 'open iniencephaly' SubClassOf 'iniencephaly' -+ 'open iniencephaly' SubClassOf 'iniencephaly' ++ 'generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Generalized lipodystrophy' ++ 'generalized lipodystrophy' EquivalentTo 'lipodystrophy' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Generalized lipodystrophy') Class: http://purl.obolibrary.org/obo/MONDO_0017054 Label(s): thiamine-responsive maple syrup urine disease - 'thiamine-responsive maple syrup urine disease' EquivalentTo 'maple syrup urine disease' and ('disease responds to' some 'vitamin B1') - 'thiamine-responsive maple syrup urine disease' SubClassOf 'disease responds to' some 'vitamin B1' -+ 'thiamine-responsive maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'vitamin B1' -+ 'thiamine-responsive maple syrup urine disease' EquivalentTo 'maple syrup urine disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'vitamin B1') - -Class: http://purl.obolibrary.org/obo/MONDO_0017043 -Label(s): congenital mesoblastic nephroma -- 'congenital mesoblastic nephroma' SubClassOf 'childhood malignant kidney neoplasm' -+ 'congenital mesoblastic nephroma' SubClassOf 'childhood malignant kidney neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_0008550 -Label(s): Hepatobiliary Neoplasm -- 'Hepatobiliary Neoplasm' SubClassOf 'hepatobiliary disease' -+ 'Hepatobiliary Neoplasm' SubClassOf 'hepatobiliary disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0004784 -Label(s): allergic asthma -- 'allergic asthma' SubClassOf 'allergic respiratory disease' -- 'allergic asthma' SubClassOf 'asthma' -+ 'allergic asthma' SubClassOf 'allergic respiratory disease' -+ 'allergic asthma' SubClassOf 'asthma' - -Class: http://www.ebi.ac.uk/efo/EFO_0008525 -Label(s): spinal muscular atrophy -- 'spinal muscular atrophy' SubClassOf 'motor neuron disease' -+ 'spinal muscular atrophy' SubClassOf 'hereditary motor neuron disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0032799 -Label(s): mitochondrial DNA depletion syndrome 16 (hepatic type) -- 'mitochondrial DNA depletion syndrome 16 (hepatic type)' SubClassOf 'mitochondrial DNA depletion syndrome' -+ 'mitochondrial DNA depletion syndrome 16 (hepatic type)' SubClassOf 'mitochondrial DNA depletion syndrome' ++ 'thiamine-responsive maple syrup urine disease' EquivalentTo 'maple syrup urine disease' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'vitamin B1') ++ 'thiamine-responsive maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'vitamin B1' Class: http://www.ebi.ac.uk/efo/EFO_0008506 Label(s): hyperparathyroidism - 'hyperparathyroidism' SubClassOf 'disease has major feature' some 'Hyperparathyroidism' -+ 'hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperparathyroidism' - -Class: http://purl.obolibrary.org/obo/MONDO_0032787 -Label(s): holoprosencephaly 12 with or without pancreatic agenesis -- 'holoprosencephaly 12 with or without pancreatic agenesis' SubClassOf 'holoprosencephaly' -+ 'holoprosencephaly 12 with or without pancreatic agenesis' SubClassOf 'holoprosencephaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0032778 -Label(s): arthrogryposis multiplex congenita 3, myogenic type -- 'arthrogryposis multiplex congenita 3, myogenic type' SubClassOf 'arthrogryposis multiplex congenita' -+ 'arthrogryposis multiplex congenita 3, myogenic type' SubClassOf 'arthrogryposis multiplex congenita' - -Class: http://purl.obolibrary.org/obo/MONDO_0004598 -Label(s): acute cor pulmonale -- 'acute cor pulmonale' SubClassOf 'cor pulmonale' -+ 'acute cor pulmonale' SubClassOf 'cor pulmonale' - -Class: http://purl.obolibrary.org/obo/MONDO_0004587 -Label(s): hereditary night blindness -- 'hereditary night blindness' SubClassOf 'night blindness' -- 'hereditary night blindness' SubClassOf 'hereditary neurological disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0004582 -Label(s): rheumatic myocarditis -- 'rheumatic myocarditis' SubClassOf 'myocarditis' -+ 'rheumatic myocarditis' SubClassOf 'myocarditis' - -Class: http://purl.obolibrary.org/obo/MONDO_0032737 -Label(s): spastic paraplegia 80, autosomal dominant -- 'spastic paraplegia 80, autosomal dominant' SubClassOf 'hereditary spastic paraplegia' -+ 'spastic paraplegia 80, autosomal dominant' SubClassOf 'hereditary spastic paraplegia' - -Class: http://purl.obolibrary.org/obo/MONDO_0017207 -Label(s): primary organ-specific lymphoma -- 'primary organ-specific lymphoma' SubClassOf 'lymphoma' -+ 'primary organ-specific lymphoma' SubClassOf 'lymphoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0010358 -Label(s): hypophosphatemic rickets, X-linked recessive -- 'hypophosphatemic rickets, X-linked recessive' SubClassOf 'X-linked recessive disease' -+ 'hypophosphatemic rickets, X-linked recessive' SubClassOf 'X-linked recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0004554 -Label(s): childhood kidney angiomyolipoma -- 'childhood kidney angiomyolipoma' SubClassOf 'childhood kidney neoplasm' -+ 'childhood kidney angiomyolipoma' SubClassOf 'childhood kidney neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0032728 -Label(s): Charcot-Marie-Tooth disease, axonal, type 2EE -- 'Charcot-Marie-Tooth disease, axonal, type 2EE' SubClassOf 'Charcot-Marie-Tooth disease type 2' -+ 'Charcot-Marie-Tooth disease, axonal, type 2EE' SubClassOf 'Charcot-Marie-Tooth disease type 2' - -Class: http://purl.obolibrary.org/obo/MONDO_0017219 -Label(s): microform holoprosencephaly -- 'microform holoprosencephaly' SubClassOf 'holoprosencephaly' -+ 'microform holoprosencephaly' SubClassOf 'holoprosencephaly' - -Class: http://purl.obolibrary.org/obo/GO_0006749 -Label(s): glutathione metabolic process -- 'glutathione metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0017221 -Label(s): Pelizaeus-Merzbacher disease, connatal form -- 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' -+ 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0017222 -Label(s): Pelizaeus-Merzbacher disease, classic form -- 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' -+ 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0017223 -Label(s): Pelizaeus-Merzbacher disease, transitional form -- 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' -+ 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0017224 -Label(s): Pelizaeus-Merzbacher disease in female carriers -- 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' -+ 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0004539 -Label(s): aortic malignant tumor -- 'aortic malignant tumor' SubClassOf 'aortic disease' -- 'aortic malignant tumor' SubClassOf 'great vessel cancer' -+ 'aortic malignant tumor' SubClassOf 'aortic disease' -+ 'aortic malignant tumor' SubClassOf 'great vessel cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0004528 -Label(s): lymph node palisaded myofibroblastoma -- 'lymph node palisaded myofibroblastoma' SubClassOf 'myofibroblastoma' -+ 'lymph node palisaded myofibroblastoma' SubClassOf 'myofibroblastoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0004519 -Label(s): synovial angioma -- 'synovial angioma' SubClassOf 'hemangioma' -+ 'synovial angioma' SubClassOf 'hemangioma' - -Class: http://purl.obolibrary.org/obo/MONDO_0004517 -Label(s): ureter tuberculosis -- 'ureter tuberculosis' SubClassOf 'ureteral disorder' -+ 'ureter tuberculosis' SubClassOf 'ureteral disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0010392 -Label(s): glycogen storage disease due to phosphoglycerate kinase 1 deficiency -- 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'disorder of glycogen metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0002460 -Label(s): lacrimal system cancer -- 'lacrimal system cancer' SubClassOf 'lacrimal apparatus disease' -+ 'lacrimal system cancer' SubClassOf 'ocular cancer' -+ 'lacrimal system cancer' SubClassOf 'lacrimal apparatus disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0004790 -Label(s): fatty liver disease -- 'fatty liver disease' SubClassOf 'liver disease' -+ 'fatty liver disease' SubClassOf 'liver disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0032932 -Label(s): mitochondrial DNA depletion syndrome 18 -- 'mitochondrial DNA depletion syndrome 18' SubClassOf 'mitochondrial DNA depletion syndrome' -+ 'mitochondrial DNA depletion syndrome 18' SubClassOf 'mitochondrial DNA depletion syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0014028 -Label(s): distal arthrogryposis type 5D -- 'distal arthrogryposis type 5D' SubClassOf 'distal arthrogryposis' -+ 'distal arthrogryposis type 5D' SubClassOf 'distal arthrogryposis' - -Class: http://purl.obolibrary.org/obo/MONDO_0957308 -Label(s): spastic paraplegia 90A, autosomal dominant -- 'spastic paraplegia 90A, autosomal dominant' SubClassOf 'hereditary spastic paraplegia' -+ 'spastic paraplegia 90A, autosomal dominant' SubClassOf 'hereditary spastic paraplegia' - -Class: http://purl.obolibrary.org/obo/MONDO_0004491 -Label(s): uterine corpus choriocarcinoma -- 'uterine corpus choriocarcinoma' SubClassOf 'gestational choriocarcinoma' -+ 'uterine corpus choriocarcinoma' SubClassOf 'gestational choriocarcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0032664 -Label(s): ciliary dyskinesia, primary, 40 -- 'ciliary dyskinesia, primary, 40' SubClassOf 'primary ciliary dyskinesia' -+ 'ciliary dyskinesia, primary, 40' SubClassOf 'primary ciliary dyskinesia' ++ 'hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperparathyroidism' + +Class: http://purl.obolibrary.org/obo/UBERON_0004726 +Label(s): vasa recta +- 'vasa recta' SubClassOf 'vein' ++ 'vasa recta' SubClassOf 'part_of' some 'kidney' ++ 'vasa recta' SubClassOf 'part_of' some 'trunk' ++ 'vasa recta' SubClassOf 'vasculature' Class: http://www.ebi.ac.uk/efo/EFO_0000699 Label(s): Sjogren syndrome -- 'Sjogren syndrome' SubClassOf 'autoimmune disorder of exocrine system' - 'Sjogren syndrome' SubClassOf 'disease shares features of' some 'IgG4-related dacryoadenitis and sialadenitis' -+ 'Sjogren syndrome' SubClassOf 'autoimmune disorder of exocrine system' -+ 'Sjogren syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'IgG4-related dacryoadenitis and sialadenitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0004484 -Label(s): gallbladder melanoma -- 'gallbladder melanoma' SubClassOf 'digestive system melanoma' -+ 'gallbladder melanoma' SubClassOf 'digestive system melanoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1001294 -Label(s): lymphocytic colitis -- 'lymphocytic colitis' SubClassOf 'microscopic colitis' -+ 'lymphocytic colitis' SubClassOf 'microscopic colitis' - -Class: http://www.ebi.ac.uk/efo/EFO_1000217 -Label(s): Digestive System Adenoma -- 'Digestive System Adenoma' SubClassOf 'adenoma' -+ 'Digestive System Adenoma' SubClassOf 'adenoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0032631 -Label(s): mitochondrial complex 1 deficiency, nuclear type 27 -- 'mitochondrial complex 1 deficiency, nuclear type 27' SubClassOf 'mitochondrial complex I deficiency, nuclear type' -+ 'mitochondrial complex 1 deficiency, nuclear type 27' SubClassOf 'mitochondrial complex I deficiency, nuclear type' - -Class: http://purl.obolibrary.org/obo/MONDO_0004452 -Label(s): childhood central nervous system germinoma -- 'childhood central nervous system germinoma' SubClassOf 'childhood central nervous system germ cell tumor' -+ 'childhood central nervous system germinoma' SubClassOf 'childhood central nervous system germ cell tumor' - -Class: http://purl.obolibrary.org/obo/MONDO_0017313 -Label(s): disorder of folate metabolism and transport -- 'disorder of folate metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' -+ 'disorder of folate metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' - -Class: http://purl.obolibrary.org/obo/MONDO_0004450 -Label(s): carotid artery occlusion -- 'carotid artery occlusion' SubClassOf 'carotid artery disease' -+ 'carotid artery occlusion' SubClassOf 'carotid artery disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0004440 -Label(s): pineal region meningioma -- 'pineal region meningioma' SubClassOf 'meningioma' -+ 'pineal region meningioma' SubClassOf 'meningioma' - -Class: http://purl.obolibrary.org/obo/MONDO_0032610 -Label(s): mitochondrial complex 1 deficiency, nuclear type 5 -- 'mitochondrial complex 1 deficiency, nuclear type 5' SubClassOf 'mitochondrial complex I deficiency, nuclear type' -+ 'mitochondrial complex 1 deficiency, nuclear type 5' SubClassOf 'mitochondrial complex I deficiency, nuclear type' - -Class: http://purl.obolibrary.org/obo/MONDO_0004429 -Label(s): skin meningioma -- 'skin meningioma' SubClassOf 'meningioma' -+ 'skin meningioma' SubClassOf 'meningioma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000064 -Label(s): Acinar Prostate Adenocarcinoma, Foamy Gland Variant -- 'Acinar Prostate Adenocarcinoma, Foamy Gland Variant' SubClassOf 'prostatic acinar adenocarcinoma' -+ 'Acinar Prostate Adenocarcinoma, Foamy Gland Variant' SubClassOf 'prostatic acinar adenocarcinoma' ++ 'Sjogren syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'IgG4-related dacryoadenitis and sialadenitis' Class: http://purl.obolibrary.org/obo/MONDO_0017214 Label(s): vitamin B12-responsive methylmalonic acidemia - 'vitamin B12-responsive methylmalonic acidemia' EquivalentTo 'methylmalonic acidemia' and ('disease responds to' some 'cobalamin') - 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'disease responds to' some 'cobalamin' -+ 'vitamin B12-responsive methylmalonic acidemia' EquivalentTo 'methylmalonic acidemia' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'cobalamin') -+ 'vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'cobalamin' - -Class: http://purl.obolibrary.org/obo/MONDO_0017225 -Label(s): null syndrome -- 'null syndrome' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' -+ 'null syndrome' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0001335 -Label(s): hypotrichosis of eyelid -- 'hypotrichosis of eyelid' SubClassOf 'eyelid disease' -+ 'hypotrichosis of eyelid' SubClassOf 'eyelid disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0045047 -Label(s): neurosarcoidosis -- 'neurosarcoidosis' SubClassOf 'sarcoidosis' -+ 'neurosarcoidosis' SubClassOf 'sarcoidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0957284 -Label(s): nemaline myopathy 5C, autosomal dominant -- 'nemaline myopathy 5C, autosomal dominant' SubClassOf 'nemaline myopathy' -+ 'nemaline myopathy 5C, autosomal dominant' SubClassOf 'nemaline myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0957281 -Label(s): nemaline myopathy 5B, autosomal recessive, childhood-onset -- 'nemaline myopathy 5B, autosomal recessive, childhood-onset' SubClassOf 'nemaline myopathy' -+ 'nemaline myopathy 5B, autosomal recessive, childhood-onset' SubClassOf 'nemaline myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0045023 -Label(s): acquired adrenogenital syndrome -- 'acquired adrenogenital syndrome' SubClassOf 'adrenogenital syndrome' -+ 'acquired adrenogenital syndrome' SubClassOf 'adrenogenital syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0957224 -Label(s): congenital myopathy 21 with early respiratory failure -- 'congenital myopathy 21 with early respiratory failure' SubClassOf 'congenital myopathy' -+ 'congenital myopathy 21 with early respiratory failure' SubClassOf 'congenital myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0957221 -Label(s): spastic paraplegia 70, autosomal recessive -- 'spastic paraplegia 70, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' -+ 'spastic paraplegia 70, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' - -Class: http://purl.obolibrary.org/obo/MONDO_0957215 -Label(s): congenital myopathy 20 -- 'congenital myopathy 20' SubClassOf 'congenital myopathy' -+ 'congenital myopathy 20' SubClassOf 'congenital myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0004394 -Label(s): maxillary sinus squamous cell carcinoma -- 'maxillary sinus squamous cell carcinoma' SubClassOf 'paranasal sinus squamous cell carcinoma' -+ 'maxillary sinus squamous cell carcinoma' SubClassOf 'paranasal sinus squamous cell carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0004374 -Label(s): adult extraskeletal osteosarcoma -- 'adult extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' -+ 'adult extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0004363 -Label(s): adult spinal cord glioblastoma -+ 'adult spinal cord glioblastoma' SubClassOf 'spinal cord glioma' - -Class: http://purl.obolibrary.org/obo/MONDO_0017410 -Label(s): porencephaly -- 'porencephaly' SubClassOf 'encephaloclastic disorder' -+ 'porencephaly' SubClassOf 'encephaloclastic disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0004336 -Label(s): rectal signet ring cell adenocarcinoma -- 'rectal signet ring cell adenocarcinoma' SubClassOf 'colorectal signet ring cell carcinoma' -+ 'rectal signet ring cell adenocarcinoma' SubClassOf 'colorectal signet ring cell carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0004331 -Label(s): bladder urachal adenocarcinoma -- 'bladder urachal adenocarcinoma' SubClassOf 'Bladder Adenocarcinoma' -- 'bladder urachal adenocarcinoma' SubClassOf 'urachus cancer' -+ 'bladder urachal adenocarcinoma' SubClassOf 'Bladder Adenocarcinoma' -+ 'bladder urachal adenocarcinoma' SubClassOf 'urachus cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0017435 -Label(s): popliteal pterygium syndrome -- 'popliteal pterygium syndrome' SubClassOf 'syndromic disease' -- 'popliteal pterygium syndrome' SubClassOf 'arthrogryposis syndrome' -+ 'popliteal pterygium syndrome' SubClassOf 'arthrogryposis syndrome' -+ 'popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040010 - -Class: http://purl.obolibrary.org/obo/MONDO_0004328 -Label(s): maxillary sinus adenocarcinoma -- 'maxillary sinus adenocarcinoma' SubClassOf 'adenocarcinoma' -+ 'maxillary sinus adenocarcinoma' SubClassOf 'adenocarcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0859517 -Label(s): congenital myopathy 2b, severe infantile, autosomal recessive -- 'congenital myopathy 2b, severe infantile, autosomal recessive' SubClassOf 'congenital myopathy' -+ 'congenital myopathy 2b, severe infantile, autosomal recessive' SubClassOf 'congenital myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0009970 -Label(s): renal tubular dysgenesis of genetic origin -- 'renal tubular dysgenesis of genetic origin' SubClassOf 'renal tubular dysgenesis' -+ 'renal tubular dysgenesis of genetic origin' SubClassOf 'renal tubular dysgenesis' ++ 'vitamin B12-responsive methylmalonic acidemia' EquivalentTo 'methylmalonic acidemia' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'cobalamin') ++ 'vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'cobalamin' Class: http://purl.obolibrary.org/obo/MONDO_0009966 Label(s): NPHP3-related Meckel-like syndrome - 'NPHP3-related Meckel-like syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0009965 -Label(s): Perlman syndrome -- 'Perlman syndrome' SubClassOf 'overgrowth syndrome' -+ 'Perlman syndrome' SubClassOf 'overgrowth syndrome' ++ 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0009958 Label(s): adult Refsum disease - 'adult Refsum disease' SubClassOf 'disease has major feature' some 'Leukoencephalopathy' -+ 'adult Refsum disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Leukoencephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0009953 -Label(s): leukocyte adhesion deficiency type II -- 'leukocyte adhesion deficiency type II' SubClassOf 'leukocyte adhesion deficiency' -+ 'leukocyte adhesion deficiency type II' SubClassOf 'leukocyte adhesion deficiency' ++ 'adult Refsum disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Leukoencephalopathy' Class: http://purl.obolibrary.org/obo/MONDO_0011685 Label(s): polysubstance abuse, susceptibility to - 'polysubstance abuse, susceptibility to' SubClassOf 'predisposes towards' some 'drug dependence' -+ 'polysubstance abuse, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'drug dependence' - -Class: http://purl.obolibrary.org/obo/MONDO_0009947 -Label(s): glutathione synthetase deficiency with 5-oxoprolinuria -- 'glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'inherited glutathione synthetase deficiency' -+ 'glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'inherited glutathione synthetase deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0009940 -Label(s): pycnodysostosis -- 'pycnodysostosis' SubClassOf 'lysosomal storage disease' -+ 'pycnodysostosis' SubClassOf 'lysosomal storage disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009926 -Label(s): autosomal recessive multiple pterygium syndrome -- 'autosomal recessive multiple pterygium syndrome' SubClassOf 'multiple pterygium syndrome' -+ 'autosomal recessive multiple pterygium syndrome' SubClassOf 'multiple pterygium syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0700117 -Label(s): SLC6A3-related dopamine transporter deficiency syndrome -- 'SLC6A3-related dopamine transporter deficiency syndrome' SubClassOf 'movement disorder' -+ 'SLC6A3-related dopamine transporter deficiency syndrome' SubClassOf 'movement disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0009917 -Label(s): autosomal recessive pseudohypoaldosteronism type 1 -- 'autosomal recessive pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism type 1' -+ 'autosomal recessive pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism type 1' - -Class: http://purl.obolibrary.org/obo/MONDO_0009910 -Label(s): Wiedemann-Rautenstrauch syndrome -- 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'progeria' -+ 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'progeria' -+ 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700276 - -Class: http://purl.obolibrary.org/obo/MONDO_0009903 -Label(s): postaxial acrofacial dysostosis -- 'postaxial acrofacial dysostosis' SubClassOf 'syndromic disease' -- 'postaxial acrofacial dysostosis' SubClassOf 'acrofacial dysostosis' -+ 'postaxial acrofacial dysostosis' SubClassOf 'acrofacial dysostosis' -+ 'postaxial acrofacial dysostosis' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0022519 -Label(s): autoimmune myocarditis -- 'autoimmune myocarditis' SubClassOf 'myocarditis' -+ 'autoimmune myocarditis' SubClassOf 'myocarditis' - -Class: http://purl.obolibrary.org/obo/MONDO_0027407 -Label(s): Kleefstra syndrome 1 -- 'Kleefstra syndrome 1' SubClassOf 'Kleefstra syndrome' -+ 'Kleefstra syndrome 1' SubClassOf 'Kleefstra syndrome' ++ 'polysubstance abuse, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'drug dependence' Class: http://purl.obolibrary.org/obo/MONDO_0007839 Label(s): Aase-Smith syndrome - 'Aase-Smith syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' ++ 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0022394 Label(s): cervical intraepithelial neoplasia - 'cervical intraepithelial neoplasia' SubClassOf 'disease has major feature' some 'Cervical polyp' -+ 'cervical intraepithelial neoplasia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Cervical polyp' - -Class: http://purl.obolibrary.org/obo/MONDO_0014996 -Label(s): intellectual disability, autosomal recessive 58 -- 'intellectual disability, autosomal recessive 58' SubClassOf 'autosomal recessive non-syndromic intellectual disability' -+ 'intellectual disability, autosomal recessive 58' SubClassOf 'autosomal recessive non-syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0014993 -Label(s): myofibrillar myopathy 8 -- 'myofibrillar myopathy 8' SubClassOf 'myofibrillar myopathy' -+ 'myofibrillar myopathy 8' SubClassOf 'myofibrillar myopathy' - -Class: http://www.ebi.ac.uk/efo/EFO_1002031 -Label(s): Hodgkins lymphoma, mixed cellularity -- 'Hodgkins lymphoma, mixed cellularity' SubClassOf 'classic Hodgkin lymphoma' -+ 'Hodgkins lymphoma, mixed cellularity' SubClassOf 'classic Hodgkin lymphoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0014975 -Label(s): autosomal recessive spastic paraplegia type 78 -- 'autosomal recessive spastic paraplegia type 78' SubClassOf 'autosomal recessive disease' -+ 'autosomal recessive spastic paraplegia type 78' SubClassOf 'autosomal recessive disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1002019 -Label(s): oligoarticular juvenile idiopathic arthritis -- 'oligoarticular juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' -+ 'oligoarticular juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' - -Class: http://purl.obolibrary.org/obo/MONDO_0014962 -Label(s): intellectual disability, autosomal recessive 57 -- 'intellectual disability, autosomal recessive 57' SubClassOf 'autosomal recessive non-syndromic intellectual disability' -+ 'intellectual disability, autosomal recessive 57' SubClassOf 'autosomal recessive non-syndromic intellectual disability' - -Class: http://www.ebi.ac.uk/efo/EFO_1002000 -Label(s): Takotsubo cardiomyopathy -- 'Takotsubo cardiomyopathy' SubClassOf 'cardiomyopathy' -+ 'Takotsubo cardiomyopathy' SubClassOf 'cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0014959 -Label(s): mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant -- 'mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant' SubClassOf 'mitochondrial DNA depletion syndrome' -+ 'mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant' SubClassOf 'mitochondrial DNA depletion syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0014953 -Label(s): gnb5-related intellectual disability-cardiac arrhythmia syndrome -- 'gnb5-related intellectual disability-cardiac arrhythmia syndrome' SubClassOf 'autosomal recessive disease' -+ 'gnb5-related intellectual disability-cardiac arrhythmia syndrome' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0014951 -Label(s): intellectual developmental disorder, autosomal recessive 74 -- 'intellectual developmental disorder, autosomal recessive 74' SubClassOf 'autosomal recessive non-syndromic intellectual disability' -+ 'intellectual developmental disorder, autosomal recessive 74' SubClassOf 'autosomal recessive non-syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0004292 -Label(s): supraglottis verrucous carcinoma -- 'supraglottis verrucous carcinoma' SubClassOf 'larynx verrucous carcinoma' -+ 'supraglottis verrucous carcinoma' SubClassOf 'larynx verrucous carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0014943 -Label(s): mitochondrial DNA depletion syndrome 15 (hepatocerebral type) -- 'mitochondrial DNA depletion syndrome 15 (hepatocerebral type)' SubClassOf 'mitochondrial DNA depletion syndrome' -+ 'mitochondrial DNA depletion syndrome 15 (hepatocerebral type)' SubClassOf 'mitochondrial DNA depletion syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0100409 -Label(s): acute myeloid leukemia, t(3;5)(q25;q34) -- 'acute myeloid leukemia, t(3;5)(q25;q34)' SubClassOf 'acute myeloid leukemia' -+ 'acute myeloid leukemia, t(3;5)(q25;q34)' SubClassOf 'acute myeloid leukemia' ++ 'cervical intraepithelial neoplasia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cervical polyp' Class: http://purl.obolibrary.org/obo/MONDO_0060627 Label(s): glycosylphosphatidylinositol biosynthesis defect 15 - 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' ++ 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' -Class: http://purl.obolibrary.org/obo/MONDO_0014935 -Label(s): frontometaphyseal dysplasia 2 -- 'frontometaphyseal dysplasia 2' SubClassOf 'frontometaphyseal dysplasia' -+ 'frontometaphyseal dysplasia 2' SubClassOf 'frontometaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014930 -Label(s): intellectual disability, autosomal recessive 56 -- 'intellectual disability, autosomal recessive 56' SubClassOf 'autosomal recessive non-syndromic intellectual disability' -+ 'intellectual disability, autosomal recessive 56' SubClassOf 'autosomal recessive non-syndromic intellectual disability' - -Class: http://www.ebi.ac.uk/efo/EFO_0000759 -Label(s): lipoma -- 'lipoma' SubClassOf 'benign lipomatous neoplasm' -+ 'lipoma' SubClassOf 'benign lipomatous neoplasm' +Class: http://purl.obolibrary.org/obo/MONDO_0060622 +Label(s): neurodevelopmental disorder with severe motor impairment and absent language ++ 'neurodevelopmental disorder with severe motor impairment and absent language' SubClassOf 'complex neurodevelopmental disorder' Class: http://purl.obolibrary.org/obo/MONDO_1030001 Label(s): epilepsy, juvenile absence, susceptibility to - 'epilepsy, juvenile absence, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'juvenile absence epilepsy') - 'epilepsy, juvenile absence, susceptibility to' SubClassOf 'predisposes towards' some 'juvenile absence epilepsy' -+ 'epilepsy, juvenile absence, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'juvenile absence epilepsy' -+ 'epilepsy, juvenile absence, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'juvenile absence epilepsy') - -Class: http://purl.obolibrary.org/obo/MONDO_0004257 -Label(s): childhood central nervous system mixed germ cell tumor -- 'childhood central nervous system mixed germ cell tumor' SubClassOf 'mixed germ cell tumor of central nervous system' -+ 'childhood central nervous system mixed germ cell tumor' SubClassOf 'mixed germ cell tumor of central nervous system' - -Class: http://purl.obolibrary.org/obo/MONDO_0017511 -Label(s): split hand, unilateral -- 'split hand, unilateral' SubClassOf 'split hand' -+ 'split hand, unilateral' SubClassOf 'split hand' - -Class: http://purl.obolibrary.org/obo/MONDO_0017512 -Label(s): split hand, bilateral -- 'split hand, bilateral' SubClassOf 'split hand' -+ 'split hand, bilateral' SubClassOf 'split hand' - -Class: http://purl.obolibrary.org/obo/MONDO_0014903 -Label(s): seizures, benign familial infantile, 5 -- 'seizures, benign familial infantile, 5' SubClassOf 'benign familial infantile epilepsy' -+ 'seizures, benign familial infantile, 5' SubClassOf 'benign familial infantile epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0017522 -Label(s): hyperphalangy, bilateral -- 'hyperphalangy, bilateral' SubClassOf 'hyperphalangy' -+ 'hyperphalangy, bilateral' SubClassOf 'hyperphalangy' - -Class: http://purl.obolibrary.org/obo/MONDO_0017530 -Label(s): polysyndactyly, bilateral -- 'polysyndactyly, bilateral' SubClassOf 'polysyndactyly 4' -+ 'polysyndactyly, bilateral' SubClassOf 'polysyndactyly 4' - -Class: http://purl.obolibrary.org/obo/MONDO_0004217 -Label(s): childhood brain germinoma -- 'childhood brain germinoma' SubClassOf 'childhood central nervous system germinoma' -+ 'childhood brain germinoma' SubClassOf 'childhood central nervous system germinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0013616 -Label(s): pigmented nodular adrenocortical disease, primary, 3 -- 'pigmented nodular adrenocortical disease, primary, 3' SubClassOf 'primary pigmented nodular adrenocortical disease' -+ 'pigmented nodular adrenocortical disease, primary, 3' SubClassOf 'primary pigmented nodular adrenocortical disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0004207 -Label(s): pulmonary artery leiomyosarcoma -- 'pulmonary artery leiomyosarcoma' SubClassOf 'arterial disorder' -+ 'pulmonary artery leiomyosarcoma' SubClassOf 'arterial disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0017314 -Label(s): Ehlers-Danlos syndrome, vascular type -- 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Ehlers-Danlos syndrome' -+ 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Ehlers-Danlos syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0009889 -Label(s): autosomal recessive polycystic kidney disease -- 'autosomal recessive polycystic kidney disease' SubClassOf 'Polycystic Kidney Disease' -+ 'autosomal recessive polycystic kidney disease' SubClassOf 'Polycystic Kidney Disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009876 -Label(s): isolated growth hormone deficiency type IA -- 'isolated growth hormone deficiency type IA' SubClassOf 'isolated congenital growth hormone deficiency' -+ 'isolated growth hormone deficiency type IA' SubClassOf 'isolated congenital growth hormone deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0009868 -Label(s): glycogen storage disease IXb -- 'glycogen storage disease IXb' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disease IXb' SubClassOf 'disorder of glycogen metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0009867 -Label(s): lethal congenital glycogen storage disease of heart -- 'lethal congenital glycogen storage disease of heart' SubClassOf 'disorder of glycogen metabolism' -+ 'lethal congenital glycogen storage disease of heart' SubClassOf 'disorder of glycogen metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0009865 -Label(s): glycogen storage disease due to phosphoglycerate mutase deficiency -- 'glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'disorder of glycogen metabolism' ++ 'epilepsy, juvenile absence, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'juvenile absence epilepsy' ++ 'epilepsy, juvenile absence, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'juvenile absence epilepsy') Class: http://purl.obolibrary.org/obo/MONDO_0700057 Label(s): neurological pain disorder - 'neurological pain disorder' EquivalentTo 'nervous system disease' and ('disease has major feature' some 'Pain') - 'neurological pain disorder' SubClassOf 'disease has major feature' some 'Pain' -+ 'neurological pain disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Pain' -+ 'neurological pain disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Pain') - -Class: http://purl.obolibrary.org/obo/MONDO_0009852 -Label(s): hereditary intrinsic factor deficiency -- 'hereditary intrinsic factor deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' -- 'hereditary intrinsic factor deficiency' SubClassOf 'inborn vitamin B12 deficiency' -+ 'hereditary intrinsic factor deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' ++ 'neurological pain disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Pain' ++ 'neurological pain disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Pain') Class: http://purl.obolibrary.org/obo/MONDO_0700041 Label(s): neuroblastoma, susceptibility to, 2 - 'neuroblastoma, susceptibility to, 2' SubClassOf 'predisposes towards' some 'neuroblastoma' -+ 'neuroblastoma, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neuroblastoma' ++ 'neuroblastoma, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neuroblastoma' Class: http://purl.obolibrary.org/obo/MONDO_0027353 Label(s): autosomal recessive dyskeratosis congenita 4 - 'autosomal recessive dyskeratosis congenita 4' SubClassOf 'disease shares features of' some 'dyskeratosis congenita, autosomal dominant 2' -+ 'autosomal recessive dyskeratosis congenita 4' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'dyskeratosis congenita, autosomal dominant 2' - -Class: http://purl.obolibrary.org/obo/MONDO_0009833 -Label(s): Shwachman-Diamond syndrome -- 'Shwachman-Diamond syndrome' SubClassOf 'syndromic disease' -+ 'Shwachman-Diamond syndrome' SubClassOf 'syndromic disease' ++ 'autosomal recessive dyskeratosis congenita 4' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'dyskeratosis congenita, autosomal dominant 2' Class: http://purl.obolibrary.org/obo/MONDO_0009830 Label(s): parkinsonian-pyramidal syndrome - 'parkinsonian-pyramidal syndrome' SubClassOf 'predisposes towards' some 'young-onset Parkinson disease' -+ 'parkinsonian-pyramidal syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'young-onset Parkinson disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009824 -Label(s): primary hyperoxaluria type 2 -- 'primary hyperoxaluria type 2' SubClassOf 'primary hyperoxaluria' -+ 'primary hyperoxaluria type 2' SubClassOf 'primary hyperoxaluria' - -Class: http://purl.obolibrary.org/obo/MONDO_0009823 -Label(s): primary hyperoxaluria type 1 -- 'primary hyperoxaluria type 1' SubClassOf 'primary hyperoxaluria' -+ 'primary hyperoxaluria type 1' SubClassOf 'primary hyperoxaluria' - -Class: http://purl.obolibrary.org/obo/MONDO_0009820 -Label(s): osteoporosis-pseudoglioma syndrome -- 'osteoporosis-pseudoglioma syndrome' SubClassOf 'syndromic disease' -+ 'osteoporosis-pseudoglioma syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009818 -Label(s): autosomal recessive osteopetrosis 3 -- 'autosomal recessive osteopetrosis 3' SubClassOf 'autosomal recessive osteopetrosis' -+ 'autosomal recessive osteopetrosis 3' SubClassOf 'autosomal recessive osteopetrosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0009816 -Label(s): autosomal recessive osteopetrosis 2 -- 'autosomal recessive osteopetrosis 2' SubClassOf 'autosomal recessive osteopetrosis' -+ 'autosomal recessive osteopetrosis 2' SubClassOf 'autosomal recessive osteopetrosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0009815 -Label(s): autosomal recessive osteopetrosis 1 -- 'autosomal recessive osteopetrosis 1' SubClassOf 'autosomal recessive osteopetrosis' -+ 'autosomal recessive osteopetrosis 1' SubClassOf 'autosomal recessive osteopetrosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0017353 -Label(s): neonatal glycine encephalopathy -- 'neonatal glycine encephalopathy' SubClassOf 'glycine encephalopathy' -+ 'neonatal glycine encephalopathy' SubClassOf 'glycine encephalopathy' - -Class: http://www.ebi.ac.uk/efo/EFO_0000780 -Label(s): Enterococcus faecalis infection -- 'Enterococcus faecalis infection' SubClassOf 'bacterial disease' -+ 'Enterococcus faecalis infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040019 - -Class: http://www.ebi.ac.uk/efo/EFO_0000773 -Label(s): temporal lobe epilepsy -- 'temporal lobe epilepsy' SubClassOf 'familial partial epilepsy' -+ 'temporal lobe epilepsy' SubClassOf 'familial partial epilepsy' - -Class: http://www.ebi.ac.uk/efo/EFO_0000762 -Label(s): hepatocellular adenoma -- 'hepatocellular adenoma' SubClassOf 'liver and intrahepatic bile duct neoplasm' -+ 'hepatocellular adenoma' SubClassOf 'liver and intrahepatic bile duct neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0014892 -Label(s): micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome -- 'micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome' SubClassOf 'intellectual disability, autosomal dominant' -+ 'micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome' SubClassOf 'intellectual disability, autosomal dominant' - -Class: http://purl.obolibrary.org/obo/MONDO_0014883 -Label(s): hypertrophic cardiomyopathy 26 -- 'hypertrophic cardiomyopathy 26' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'hypertrophic cardiomyopathy 26' SubClassOf 'familial hypertrophic cardiomyopathy' ++ 'parkinsonian-pyramidal syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'young-onset Parkinson disease' Class: http://www.ebi.ac.uk/efo/EFO_0000712 Label(s): stroke - 'stroke' SubClassOf 'disease has major feature' some 'Stroke' -+ 'stroke' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Stroke' - -Class: http://purl.obolibrary.org/obo/MONDO_0060554 -Label(s): vertebral, cardiac, renal, and limb defects syndrome 1 -- 'vertebral, cardiac, renal, and limb defects syndrome 1' SubClassOf 'congenital vertebral-cardiac-renal anomalies syndrome' -+ 'vertebral, cardiac, renal, and limb defects syndrome 1' SubClassOf 'congenital vertebral-cardiac-renal anomalies syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0014867 -Label(s): spinocerebellar ataxia 43 -- 'spinocerebellar ataxia 43' SubClassOf 'autosomal dominant cerebellar ataxia' -+ 'spinocerebellar ataxia 43' SubClassOf 'autosomal dominant cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014865 -Label(s): autosomal recessive severe congenital neutropenia due to CSF3R deficiency -- 'autosomal recessive severe congenital neutropenia due to CSF3R deficiency' SubClassOf 'autosomal recessive severe congenital neutropenia' -+ 'autosomal recessive severe congenital neutropenia due to CSF3R deficiency' SubClassOf 'autosomal recessive severe congenital neutropenia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014864 -Label(s): hypermanganesemia with dystonia 2 -- 'hypermanganesemia with dystonia 2' SubClassOf 'hypermanganesemia with dystonia' -+ 'hypermanganesemia with dystonia 2' SubClassOf 'hypermanganesemia with dystonia' - -Class: http://purl.obolibrary.org/obo/MONDO_0004196 -Label(s): rectal sarcomatoid carcinoma -- 'rectal sarcomatoid carcinoma' SubClassOf 'rectal carcinoma' -+ 'rectal sarcomatoid carcinoma' SubClassOf 'rectal carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0014847 -Label(s): spermatogenic failure 15 -- 'spermatogenic failure 15' SubClassOf 'azoospermia' -+ 'spermatogenic failure 15' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014820 -Label(s): mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) -- 'mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)' SubClassOf 'mitochondrial DNA depletion syndrome' -+ 'mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)' SubClassOf 'mitochondrial DNA depletion syndrome' ++ 'stroke' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Stroke' + +Class: http://purl.obolibrary.org/obo/MONDO_0014855 +Label(s): intellectual disability, autosomal dominant 42 ++ 'intellectual disability, autosomal dominant 42' SubClassOf 'monogenic epilepsy' Class: http://purl.obolibrary.org/obo/MONDO_0014809 Label(s): DDX41-related hematologic malignancy predisposition syndrome - 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf 'predisposes towards' some 'Myelodysplastic/Myeloproliferative Neoplasm' -+ 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Myelodysplastic/Myeloproliferative Neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0014802 -Label(s): Cowden syndrome 7 -- 'Cowden syndrome 7' SubClassOf 'Cowden disease' -+ 'Cowden syndrome 7' SubClassOf 'Cowden disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0004148 -Label(s): gallbladder papillary neoplasm with an associated invasive carcinoma -- 'gallbladder papillary neoplasm with an associated invasive carcinoma' SubClassOf 'Gallbladder Adenocarcinoma' -+ 'gallbladder papillary neoplasm with an associated invasive carcinoma' SubClassOf 'Gallbladder Adenocarcinoma' - -Class: http://purl.obolibrary.org/obo/CL_1000271 -Label(s): lung ciliated cell -- 'lung ciliated cell' SubClassOf 'cell' -+ 'lung ciliated cell' SubClassOf 'respiratory epithelial cell' - -Class: http://www.ebi.ac.uk/efo/EFO_1000335 -Label(s): Lung Papilloma -- 'Lung Papilloma' SubClassOf 'lung benign neoplasm' -+ 'Lung Papilloma' SubClassOf 'lung benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0009797 -Label(s): orotic aciduria -- 'orotic aciduria' SubClassOf 'inborn disorder of pyrimidine metabolism' -+ 'orotic aciduria' SubClassOf 'inborn disorder of pyrimidine metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0009794 -Label(s): orofaciodigital syndrome IV -- 'orofaciodigital syndrome IV' SubClassOf 'orofaciodigital syndrome' -+ 'orofaciodigital syndrome IV' SubClassOf 'orofaciodigital syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0009793 -Label(s): orofaciodigital syndrome III -- 'orofaciodigital syndrome III' SubClassOf 'orofaciodigital syndrome' -+ 'orofaciodigital syndrome III' SubClassOf 'orofaciodigital syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0009787 -Label(s): 3-methylglutaconic aciduria type 3 -- '3-methylglutaconic aciduria type 3' SubClassOf '3-methylglutaconic aciduria' -+ '3-methylglutaconic aciduria type 3' SubClassOf '3-methylglutaconic aciduria' - -Class: http://purl.obolibrary.org/obo/MONDO_0009776 -Label(s): spermatogenic failure 1 -- 'spermatogenic failure 1' SubClassOf 'azoospermia' -+ 'spermatogenic failure 1' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009771 -Label(s): oculotrichodysplasia -- 'oculotrichodysplasia' SubClassOf 'ectodermal dysplasia syndrome' -+ 'oculotrichodysplasia' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0009764 -Label(s): ocular motor apraxia, Cogan type -- 'ocular motor apraxia, Cogan type' SubClassOf 'eye disease' -+ 'ocular motor apraxia, Cogan type' SubClassOf 'eye disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0020482 -Label(s): myotonia permanens -- 'myotonia permanens' SubClassOf 'potassium-aggravated myotonia' -+ 'myotonia permanens' SubClassOf 'potassium-aggravated myotonia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009746 -Label(s): hereditary sensory and autonomic neuropathy type 4 -- 'hereditary sensory and autonomic neuropathy type 4' SubClassOf 'hereditary sensory and autonomic neuropathy' -+ 'hereditary sensory and autonomic neuropathy type 4' SubClassOf 'hereditary sensory and autonomic neuropathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0009745 -Label(s): neuronal ceroid lipofuscinosis 5 -- 'neuronal ceroid lipofuscinosis 5' SubClassOf 'neuronal ceroid lipofuscinosis' -+ 'neuronal ceroid lipofuscinosis 5' SubClassOf 'neuronal ceroid lipofuscinosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0009744 -Label(s): neuronal ceroid lipofuscinosis 1 -- 'neuronal ceroid lipofuscinosis 1' SubClassOf 'neuronal ceroid lipofuscinosis' -+ 'neuronal ceroid lipofuscinosis 1' SubClassOf 'neuronal ceroid lipofuscinosis' ++ 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Myelodysplastic/Myeloproliferative Neoplasm' Class: http://purl.obolibrary.org/obo/MONDO_0009741 Label(s): neuroblastoma, susceptibility to, 1 - 'neuroblastoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'neuroblastoma' -+ 'neuroblastoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neuroblastoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0009737 -Label(s): galactosialidosis -- 'galactosialidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' -- 'galactosialidosis' SubClassOf 'oligosaccharidosis' -+ 'galactosialidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' -+ 'galactosialidosis' SubClassOf 'oligosaccharidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0009734 -Label(s): hyperinsulinemic hypoglycemia, familial, 1 -- 'hyperinsulinemic hypoglycemia, familial, 1' SubClassOf 'hyperinsulinemic hypoglycemia' -+ 'hyperinsulinemic hypoglycemia, familial, 1' SubClassOf 'hyperinsulinemic hypoglycemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009733 -Label(s): nephrotic syndrome, type 4 -- 'nephrotic syndrome, type 4' SubClassOf 'familial nephrotic syndrome' -+ 'nephrotic syndrome, type 4' SubClassOf 'familial nephrotic syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0009732 -Label(s): congenital nephrotic syndrome, Finnish type -- 'congenital nephrotic syndrome, Finnish type' SubClassOf 'familial nephrotic syndrome' -+ 'congenital nephrotic syndrome, Finnish type' SubClassOf 'familial nephrotic syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0012041 -Label(s): familial adenomatous polyposis 2 -- 'familial adenomatous polyposis 2' SubClassOf 'autosomal recessive disease' -- 'familial adenomatous polyposis 2' SubClassOf 'classic familial adenomatous polyposis' -+ 'familial adenomatous polyposis 2' SubClassOf 'autosomal recessive disease' -+ 'familial adenomatous polyposis 2' SubClassOf 'classic familial adenomatous polyposis' - -Class: http://purl.obolibrary.org/obo/MONDO_0009722 -Label(s): Bailey-Bloch congenital myopathy -- 'Bailey-Bloch congenital myopathy' SubClassOf 'congenital myopathy' -+ 'Bailey-Bloch congenital myopathy' SubClassOf 'congenital myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0009709 -Label(s): myopathy, centronuclear, 2 -- 'myopathy, centronuclear, 2' SubClassOf 'autosomal recessive centronuclear myopathy' -+ 'myopathy, centronuclear, 2' SubClassOf 'autosomal recessive centronuclear myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0012084 -Label(s): aromatic L-amino acid decarboxylase deficiency -- 'aromatic L-amino acid decarboxylase deficiency' SubClassOf 'disorder of catecholamine synthesis' -+ 'aromatic L-amino acid decarboxylase deficiency' SubClassOf 'disorder of catecholamine synthesis' - -Class: http://www.ebi.ac.uk/efo/EFO_0000694 -Label(s): severe acute respiratory syndrome -- 'severe acute respiratory syndrome' SubClassOf 'Orthocoronavirinae infectious disease' -+ 'severe acute respiratory syndrome' SubClassOf 'Orthocoronavirinae infectious disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0000691 -Label(s): sarcoma -- 'sarcoma' SubClassOf 'cancer' -+ 'sarcoma' SubClassOf 'cancer' - -Class: http://www.ebi.ac.uk/efo/EFO_0000685 -Label(s): rheumatoid arthritis -- 'rheumatoid arthritis' SubClassOf 'autoimmune disorder of musculoskeletal system' -+ 'rheumatoid arthritis' SubClassOf 'autoimmune disorder of musculoskeletal system' ++ 'neuroblastoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neuroblastoma' + +Class: http://purl.obolibrary.org/obo/MONDO_0009724 +Label(s): nail-patella-like renal disease +- 'nail-patella-like renal disease' SubClassOf 'kidney disease' ++ 'nail-patella-like renal disease' SubClassOf 'inherited kidney disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0009720 +Label(s): Keipert syndrome ++ 'Keipert syndrome' SubClassOf 'genetic disorder' Class: http://www.ebi.ac.uk/efo/EFO_0000650 Label(s): whooping cough - 'whooping cough' SubClassOf 'disease has major feature' some 'Whooping cough' -+ 'whooping cough' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Whooping cough' - -Class: http://www.ebi.ac.uk/efo/EFO_0000641 -Label(s): papillary thyroid carcinoma -- 'papillary thyroid carcinoma' SubClassOf 'papillary adenocarcinoma' -- 'papillary thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' -+ 'papillary thyroid carcinoma' SubClassOf 'papillary adenocarcinoma' -+ 'papillary thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' ++ 'whooping cough' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Whooping cough' Class: http://purl.obolibrary.org/obo/MONDO_0014795 Label(s): exercise intolerance, riboflavin-responsive - 'exercise intolerance, riboflavin-responsive' SubClassOf 'disease responds to' some 'riboflavin' -+ 'exercise intolerance, riboflavin-responsive' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'riboflavin' - -Class: http://purl.obolibrary.org/obo/MONDO_0014790 -Label(s): TMEM199-CDG -- 'TMEM199-CDG' SubClassOf 'congenital disorder of glycosylation type II' -+ 'TMEM199-CDG' SubClassOf 'congenital disorder of glycosylation type II' - -Class: http://purl.obolibrary.org/obo/MONDO_0014789 -Label(s): CCDC115-CDG -- 'CCDC115-CDG' SubClassOf 'congenital disorder of glycosylation type II' -+ 'CCDC115-CDG' SubClassOf 'congenital disorder of glycosylation type II' ++ 'exercise intolerance, riboflavin-responsive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'riboflavin' Class: http://purl.obolibrary.org/obo/MONDO_0014787 Label(s): severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome - 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0014754 -Label(s): primary coenzyme Q10 deficiency 8 -- 'primary coenzyme Q10 deficiency 8' SubClassOf 'coenzyme Q10 deficiency' -+ 'primary coenzyme Q10 deficiency 8' SubClassOf 'coenzyme Q10 deficiency' ++ 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0014746 Label(s): SLC39A8-CDG - 'SLC39A8-CDG' SubClassOf 'disease has major feature' some 'central nervous system malformation' -- 'SLC39A8-CDG' SubClassOf 'congenital disorder of glycosylation type II' -+ 'SLC39A8-CDG' SubClassOf 'congenital disorder of glycosylation type II' -+ 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0014727 -Label(s): immunodeficiency 45 -- 'immunodeficiency 45' SubClassOf 'immunodeficiency disease' -+ 'immunodeficiency 45' SubClassOf 'immunodeficiency disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007064 -Label(s): severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency -- 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency' SubClassOf 'familial severe combined immunodeficiency' -+ 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency' SubClassOf 'familial severe combined immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0014717 -Label(s): early-onset Lafora body disease -- 'early-onset Lafora body disease' SubClassOf 'progressive myoclonus epilepsy' -+ 'early-onset Lafora body disease' SubClassOf 'progressive myoclonus epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0014715 -Label(s): primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection -- 'primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection' SubClassOf 'inborn error of immunity' -+ 'primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection' SubClassOf 'inborn error of immunity' - -Class: http://purl.obolibrary.org/obo/MONDO_0004040 -Label(s): urinary bladder inverted papilloma -- 'urinary bladder inverted papilloma' SubClassOf 'bladder urothelial papilloma' -+ 'urinary bladder inverted papilloma' SubClassOf 'bladder urothelial papilloma' - -Class: http://purl.obolibrary.org/obo/MONDO_0002536 -Label(s): skin papilloma -- 'skin papilloma' SubClassOf 'benign epithelial skin neoplasm' -+ 'skin papilloma' SubClassOf 'benign epithelial skin neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0017731 -Label(s): glycoproteinosis -- 'glycoproteinosis' SubClassOf 'lysosomal storage disease' -+ 'glycoproteinosis' SubClassOf 'lysosomal storage disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009699 -Label(s): action myoclonus-renal failure syndrome -- 'action myoclonus-renal failure syndrome' SubClassOf 'progressive myoclonus epilepsy' -+ 'action myoclonus-renal failure syndrome' SubClassOf 'progressive myoclonus epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0009694 -Label(s): myeloperoxidase deficiency -- 'myeloperoxidase deficiency' SubClassOf 'functional neutrophil defect' -+ 'myeloperoxidase deficiency' SubClassOf 'functional neutrophil defect' - -Class: http://purl.obolibrary.org/obo/MONDO_0009685 -Label(s): Miyoshi myopathy -- 'Miyoshi myopathy' SubClassOf 'distal myopathy' -+ 'Miyoshi myopathy' SubClassOf 'distal myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0009681 -Label(s): Ullrich congenital muscular dystrophy 1A -- 'Ullrich congenital muscular dystrophy 1A' SubClassOf 'Ullrich congenital muscular dystrophy' -+ 'Ullrich congenital muscular dystrophy 1A' SubClassOf 'Ullrich congenital muscular dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0009664 -Label(s): mulibrey nanism -- 'mulibrey nanism' SubClassOf 'syndromic disease' -+ 'mulibrey nanism' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009662 -Label(s): mucopolysaccharidosis type 7 -- 'mucopolysaccharidosis type 7' SubClassOf 'lysosomal storage disease with skeletal involvement' -- 'mucopolysaccharidosis type 7' SubClassOf 'mucopolysaccharidosis' -+ 'mucopolysaccharidosis type 7' SubClassOf 'lysosomal storage disease with skeletal involvement' -+ 'mucopolysaccharidosis type 7' SubClassOf 'mucopolysaccharidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0009661 -Label(s): mucopolysaccharidosis type 6 -- 'mucopolysaccharidosis type 6' SubClassOf 'lysosomal storage disease with skeletal involvement' -- 'mucopolysaccharidosis type 6' SubClassOf 'mucopolysaccharidosis' -+ 'mucopolysaccharidosis type 6' SubClassOf 'lysosomal storage disease with skeletal involvement' -+ 'mucopolysaccharidosis type 6' SubClassOf 'mucopolysaccharidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0009660 -Label(s): mucopolysaccharidosis type 4B -- 'mucopolysaccharidosis type 4B' SubClassOf 'mucopolysaccharidosis type 4' -+ 'mucopolysaccharidosis type 4B' SubClassOf 'mucopolysaccharidosis type 4' - -Class: http://purl.obolibrary.org/obo/MONDO_0009659 -Label(s): mucopolysaccharidosis type 4A -- 'mucopolysaccharidosis type 4A' SubClassOf 'mucopolysaccharidosis type 4' -+ 'mucopolysaccharidosis type 4A' SubClassOf 'mucopolysaccharidosis type 4' - -Class: http://purl.obolibrary.org/obo/MONDO_0009658 -Label(s): mucopolysaccharidosis type 3D -- 'mucopolysaccharidosis type 3D' SubClassOf 'mucopolysaccharidosis type 3' -+ 'mucopolysaccharidosis type 3D' SubClassOf 'mucopolysaccharidosis type 3' - -Class: http://purl.obolibrary.org/obo/MONDO_0009650 -Label(s): mucolipidosis type II -- 'mucolipidosis type II' SubClassOf 'lysosomal storage disease with skeletal involvement' -+ 'mucolipidosis type II' SubClassOf 'lysosomal storage disease with skeletal involvement' - -Class: http://purl.obolibrary.org/obo/MONDO_0009642 -Label(s): orofaciodigital syndrome type II -- 'orofaciodigital syndrome type II' SubClassOf 'orofaciodigital syndrome' -+ 'orofaciodigital syndrome type II' SubClassOf 'orofaciodigital syndrome' ++ 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' + +Class: http://purl.obolibrary.org/obo/MONDO_0009696 +Label(s): juvenile myoclonic epilepsy +- 'juvenile myoclonic epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome' +- 'juvenile myoclonic epilepsy' SubClassOf 'movement disorder' +- 'juvenile myoclonic epilepsy' SubClassOf 'childhood electroclinical syndrome' +- 'juvenile myoclonic epilepsy' SubClassOf 'familial partial epilepsy' +- 'juvenile myoclonic epilepsy' SubClassOf 'adolescence-adult electroclinical syndrome' ++ 'juvenile myoclonic epilepsy' SubClassOf 'generalised epilepsy' + +Class: http://purl.obolibrary.org/obo/MONDO_0009665 +Label(s): biotinidase deficiency +- 'biotinidase deficiency' SubClassOf 'metabolic epilepsy' Class: http://purl.obolibrary.org/obo/MONDO_0009618 Label(s): microcephaly-cardiomyopathy syndrome - 'microcephaly-cardiomyopathy syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' -+ 'microcephaly-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0009617 -Label(s): microcephaly 1, primary, autosomal recessive -- 'microcephaly 1, primary, autosomal recessive' SubClassOf 'autosomal recessive primary microcephaly' -+ 'microcephaly 1, primary, autosomal recessive' SubClassOf 'autosomal recessive primary microcephaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0009612 -Label(s): methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency -- 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' SubClassOf 'methylmalonic acidemia' -+ 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' SubClassOf 'methylmalonic acidemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009611 -Label(s): 3-methylglutaconic aciduria type 4 -- '3-methylglutaconic aciduria type 4' SubClassOf '3-methylglutaconic aciduria' -+ '3-methylglutaconic aciduria type 4' SubClassOf '3-methylglutaconic aciduria' - -Class: http://purl.obolibrary.org/obo/MONDO_0009610 -Label(s): 3-methylglutaconic aciduria type 1 -- '3-methylglutaconic aciduria type 1' SubClassOf '3-methylglutaconic aciduria' -+ '3-methylglutaconic aciduria type 1' SubClassOf '3-methylglutaconic aciduria' - -Class: http://www.ebi.ac.uk/efo/EFO_0000580 -Label(s): medullary breast carcinoma -- 'medullary breast carcinoma' SubClassOf 'invasive breast ductal carcinoma' -+ 'medullary breast carcinoma' SubClassOf 'invasive breast ductal carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0000558 -Label(s): Kaposi's sarcoma -- 'Kaposi's sarcoma' SubClassOf 'viral disease' -+ 'Kaposi's sarcoma' SubClassOf 'viral disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0000557 -Label(s): juvenile dermatomyositis -- 'juvenile dermatomyositis' SubClassOf 'dermatomyositis' -+ 'juvenile dermatomyositis' SubClassOf 'dermatomyositis' - -Class: http://www.ebi.ac.uk/efo/EFO_0000555 -Label(s): irritable bowel syndrome -- 'irritable bowel syndrome' SubClassOf 'intestinal disease' -+ 'irritable bowel syndrome' SubClassOf 'intestinal disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0001093 -Label(s): colonic lymphangioma -- 'colonic lymphangioma' SubClassOf 'epithelial tumor of colon' - -Class: http://purl.obolibrary.org/obo/MONDO_0014689 -Label(s): Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome -- 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'Klippel-Feil syndrome' -+ 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'Klippel-Feil syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0014687 -Label(s): retinitis pigmentosa 73 -+ 'retinitis pigmentosa 73' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040040 - -Class: http://www.ebi.ac.uk/efo/EFO_0000501 -Label(s): follicular thyroid carcinoma -- 'follicular thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' -+ 'follicular thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0014654 -Label(s): Ullrich congenital muscular dystrophy 2 -- 'Ullrich congenital muscular dystrophy 2' SubClassOf 'Ullrich congenital muscular dystrophy' -+ 'Ullrich congenital muscular dystrophy 2' SubClassOf 'Ullrich congenital muscular dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0011309 -Label(s): familial gestational hyperthyroidism -- 'familial gestational hyperthyroidism' SubClassOf 'hyperthyroidism' -+ 'familial gestational hyperthyroidism' SubClassOf 'hyperthyroidism' - -Class: http://purl.obolibrary.org/obo/MONDO_0014636 -Label(s): combined oxidative phosphorylation defect type 25 -- 'combined oxidative phosphorylation defect type 25' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation defect type 25' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0014615 -Label(s): trichothiodystrophy 2, photosensitive -- 'trichothiodystrophy 2, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' -+ 'trichothiodystrophy 2, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0014606 -Label(s): intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome -- 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'intellectual disability, autosomal dominant' -+ 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'intellectual disability, autosomal dominant' ++ 'microcephaly-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' Class: http://purl.obolibrary.org/obo/MONDO_0014601 Label(s): autosomal recessive spinocerebellar ataxia 20 - 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'disease has major feature' some 'central nervous system malformation' -- 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'autosomal recessive cerebellar ataxia' -+ 'autosomal recessive spinocerebellar ataxia 20' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' -+ 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'autosomal recessive cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009595 -Label(s): cartilage-hair hypoplasia -- 'cartilage-hair hypoplasia' SubClassOf 'immuno-osseous dysplasia' -- 'cartilage-hair hypoplasia' SubClassOf 'ectodermal dysplasia syndrome' -+ 'cartilage-hair hypoplasia' SubClassOf 'immuno-osseous dysplasia' -+ 'cartilage-hair hypoplasia' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0009593 -Label(s): spondylometaphyseal dysplasia, Sedaghatian type -- 'spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'spondylometaphyseal dysplasia' -+ 'spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'spondylometaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0011778 -Label(s): multiple epiphyseal dysplasia, Al-Gazali type -- 'multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'multiple epiphyseal dysplasia' -+ 'multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'multiple epiphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009580 -Label(s): intellectual disability, autosomal recessive 1 -- 'intellectual disability, autosomal recessive 1' SubClassOf 'autosomal recessive non-syndromic intellectual disability' -+ 'intellectual disability, autosomal recessive 1' SubClassOf 'autosomal recessive non-syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0009575 -Label(s): thiamine-responsive megaloblastic anemia syndrome -- 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'autosomal recessive disease' -+ 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'autosomal recessive disease' ++ 'autosomal recessive spinocerebellar ataxia 20' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0037748 Label(s): hyperlipoproteinemia - 'hyperlipoproteinemia' SubClassOf 'disease has major feature' some 'Hyperlipoproteinemia' - 'hyperlipoproteinemia' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Hyperlipoproteinemia') -+ 'hyperlipoproteinemia' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperlipoproteinemia') -+ 'hyperlipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperlipoproteinemia' - -Class: http://www.ebi.ac.uk/efo/EFO_1000172 -Label(s): cervical squamous cell carcinoma -- 'cervical squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' -+ 'cervical squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0009567 -Label(s): Marinesco-Sjogren syndrome -- 'Marinesco-Sjogren syndrome' SubClassOf 'syndromic disease' -+ 'Marinesco-Sjogren syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009564 -Label(s): Marden-Walker syndrome -- 'Marden-Walker syndrome' SubClassOf 'arthrogryposis multiplex congenita' -+ 'Marden-Walker syndrome' SubClassOf 'arthrogryposis multiplex congenita' - -Class: http://purl.obolibrary.org/obo/MONDO_0009557 -Label(s): mandibuloacral dysplasia with type A lipodystrophy -- 'mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'mandibuloacral dysplasia' -+ 'mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'mandibuloacral dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0100101 -Label(s): fetal akinesia deformation sequence 1 -- 'fetal akinesia deformation sequence 1' SubClassOf 'fetal akinesia deformation sequence' -+ 'fetal akinesia deformation sequence 1' SubClassOf 'fetal akinesia deformation sequence' - -Class: http://purl.obolibrary.org/obo/MONDO_0009533 -Label(s): Dahlberg-Borer-Newcomer syndrome -- 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0009528 -Label(s): chylomicron retention disease -- 'chylomicron retention disease' SubClassOf 'hypobetalipoproteinemia' -+ 'chylomicron retention disease' SubClassOf 'hypobetalipoproteinemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009520 -Label(s): 3-hydroxy-3-methylglutaric aciduria -- '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'classic organic aciduria' -+ '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'classic organic aciduria' - -Class: http://purl.obolibrary.org/obo/MONDO_0008756 -Label(s): alopecia - intellectual disability syndrome -- 'alopecia - intellectual disability syndrome' SubClassOf 'syndromic disease' -+ 'alopecia - intellectual disability syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009514 -Label(s): Laurence-Moon syndrome -- 'Laurence-Moon syndrome' SubClassOf 'syndromic disease' -+ 'Laurence-Moon syndrome' SubClassOf 'syndromic disease' ++ 'hyperlipoproteinemia' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipoproteinemia') ++ 'hyperlipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipoproteinemia' Class: http://purl.obolibrary.org/obo/MONDO_0009500 Label(s): kuru, susceptibility to - 'kuru, susceptibility to' SubClassOf 'predisposes towards' some 'kuru' -+ 'kuru, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'kuru' - -Class: http://purl.obolibrary.org/obo/MONDO_0012277 -Label(s): myofibrillar myopathy 4 -- 'myofibrillar myopathy 4' SubClassOf 'myofibrillar myopathy' -+ 'myofibrillar myopathy 4' SubClassOf 'myofibrillar myopathy' - -Class: http://www.ebi.ac.uk/efo/EFO_0000499 -Label(s): follicular thyroid adenoma -- 'follicular thyroid adenoma' SubClassOf 'adenoma' -+ 'follicular thyroid adenoma' SubClassOf 'adenoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0000478 -Label(s): esophageal adenocarcinoma -- 'esophageal adenocarcinoma' SubClassOf 'adenocarcinoma' -+ 'esophageal adenocarcinoma' SubClassOf 'adenocarcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0014597 -Label(s): immunodeficiency 39 -- 'immunodeficiency 39' SubClassOf 'inborn error of immunity' -+ 'immunodeficiency 39' SubClassOf 'inborn error of immunity' - -Class: http://purl.obolibrary.org/obo/MONDO_0009293 -Label(s): glycogen storage disease V -- 'glycogen storage disease V' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disease V' SubClassOf 'disorder of glycogen metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0014572 -Label(s): Lichtenstein-Knorr syndrome -- 'Lichtenstein-Knorr syndrome' SubClassOf 'autosomal recessive cerebellar ataxia' -+ 'Lichtenstein-Knorr syndrome' SubClassOf 'autosomal recessive cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014562 -Label(s): neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome -- 'neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome' SubClassOf 'coenzyme Q10 deficiency' -+ 'neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome' SubClassOf 'coenzyme Q10 deficiency' - -Class: http://www.ebi.ac.uk/efo/EFO_0000401 -Label(s): diabetic nephropathy -- 'diabetic nephropathy' SubClassOf 'chronic kidney disease' -+ 'diabetic nephropathy' SubClassOf 'chronic kidney disease' ++ 'kuru, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'kuru' Class: http://purl.obolibrary.org/obo/MONDO_0014552 Label(s): lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome - 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0014541 -Label(s): motor developmental delay due to 14q32.2 paternally expressed gene defect -- 'motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'syndromic disease' -+ 'motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0014536 -Label(s): thrombocytopenia 5 -- 'thrombocytopenia 5' SubClassOf 'inherited thrombocytopenia' -+ 'thrombocytopenia 5' SubClassOf 'inherited thrombocytopenia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014532 -Label(s): autosomal dominant mitochondrial myopathy with exercise intolerance -- 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'inborn mitochondrial myopathy' -+ 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'inborn mitochondrial myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0054733 -Label(s): spermatogenic failure 29 -- 'spermatogenic failure 29' SubClassOf 'azoospermia' -+ 'spermatogenic failure 29' SubClassOf 'azoospermia' ++ 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0017901 Label(s): autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency - 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'predisposes towards' some 'mycobacterial infectious disease' -+ 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'mycobacterial infectious disease' - -Class: http://purl.obolibrary.org/obo/GO_0018271 -Label(s): HLCS biotinylates PC:Mn2+ Defective HLCS does not biotinylate ACACA:Mn2+ Defective HLCS does not biotinylate PC:Mn2+ Defective HLCS does not biotinylate 6x(PCCA:PCCB) HLCS biotinylates 6x(PCCA:PCCB) biotin-protein ligase activity HLCS biotinylates ACACA:Mn2+ HLCS biotinylates 6xMCCC1:6xMCCC2 HLCS biotinylates ACACB Defective HLCS does not biotinylate 6xMCCC1:6xMCCC2 -- 'Defective HLCS does not biotinylate ACACA:Mn2+' SubClassOf 'catalytic activity' -+ 'Defective HLCS does not biotinylate ACACA:Mn2+' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/MONDO_0017910 -Label(s): dehydrated hereditary stomatocytosis -- 'dehydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' -+ 'dehydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' ++ 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'mycobacterial infectious disease' Class: http://purl.obolibrary.org/obo/MONDO_0700249 Label(s): epidermolytic hyperkeratosis 1 - 'epidermolytic hyperkeratosis 1' SubClassOf 'epidermolytic ichthyosis' -+ 'epidermolytic hyperkeratosis 1' SubClassOf 'epidermolytic ichthyosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0007297 -Label(s): ADan amyloidosis -- 'ADan amyloidosis' SubClassOf 'ITM2B amyloidosis' -+ 'ADan amyloidosis' SubClassOf 'ITM2B amyloidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0003165 -Label(s): cerebellar astrocytoma -- 'cerebellar astrocytoma' SubClassOf 'cerebellar neoplasm' -+ 'cerebellar astrocytoma' SubClassOf 'cerebellar neoplasm' Class: http://purl.obolibrary.org/obo/MONDO_0004951 Label(s): susceptibility to HIV infection - 'susceptibility to HIV infection' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'HIV infection') - 'susceptibility to HIV infection' SubClassOf 'predisposes towards' some 'HIV infection' -+ 'susceptibility to HIV infection' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'HIV infection' -+ 'susceptibility to HIV infection' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'HIV infection') ++ 'susceptibility to HIV infection' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'HIV infection') ++ 'susceptibility to HIV infection' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'HIV infection' Class: http://purl.obolibrary.org/obo/MONDO_0009499 Label(s): Krabbe disease -- 'Krabbe disease' SubClassOf 'leukodystrophy' -- 'Krabbe disease' SubClassOf 'sphingolipidosis' - 'Krabbe disease' SubClassOf 'disease has basis in accumulation of' some 'psychosine' -+ 'Krabbe disease' SubClassOf 'leukodystrophy' -+ 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_basis_in_accumulation_of some 'psychosine' -+ 'Krabbe disease' SubClassOf 'sphingolipidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0009490 -Label(s): Papillon-Lefevre disease -- 'Papillon-Lefevre disease' SubClassOf 'autosomal recessive disease' -+ 'Papillon-Lefevre disease' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0017514 -Label(s): split foot, bilateral -- 'split foot, bilateral' SubClassOf 'split foot' -+ 'split foot, bilateral' SubClassOf 'split foot' ++ 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_accumulation_of some 'psychosine' Class: http://purl.obolibrary.org/obo/MONDO_0009480 Label(s): Joubert syndrome with oculorenal defect - 'Joubert syndrome with oculorenal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0009478 -Label(s): combined immunodeficiency due to DOCK8 deficiency -- 'combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'hyper-IgE syndrome' -+ 'combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'hyper-IgE syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0009470 -Label(s): Baraitser-Winter syndrome 1 -- 'Baraitser-Winter syndrome 1' SubClassOf 'Baraitser-Winter cerebrofrontofacial syndrome' -+ 'Baraitser-Winter syndrome 1' SubClassOf 'Baraitser-Winter cerebrofrontofacial syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0017526 -Label(s): polydactyly of a triphalangeal thumb, bilateral -- 'polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'polydactyly of a triphalangeal thumb' -+ 'polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'polydactyly of a triphalangeal thumb' - -Class: http://purl.obolibrary.org/obo/MONDO_0017528 -Label(s): polydactyly of an index finger, bilateral -- 'polydactyly of an index finger, bilateral' SubClassOf 'polydactyly of an index finger' -+ 'polydactyly of an index finger, bilateral' SubClassOf 'polydactyly of an index finger' - -Class: http://purl.obolibrary.org/obo/MONDO_0009469 -Label(s): benign recurrent intrahepatic cholestasis type 1 -- 'benign recurrent intrahepatic cholestasis type 1' SubClassOf 'benign recurrent intrahepatic cholestasis' -+ 'benign recurrent intrahepatic cholestasis type 1' SubClassOf 'benign recurrent intrahepatic cholestasis' ++ 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0012308 Label(s): Joubert syndrome with renal defect - 'Joubert syndrome with renal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0009461 -Label(s): spermatogenic failure 5 -- 'spermatogenic failure 5' SubClassOf 'azoospermia' -+ 'spermatogenic failure 5' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009458 -Label(s): Schimke immuno-osseous dysplasia -- 'Schimke immuno-osseous dysplasia' SubClassOf 'immuno-osseous dysplasia' -+ 'Schimke immuno-osseous dysplasia' SubClassOf 'immuno-osseous dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009452 -Label(s): Vici syndrome -- 'Vici syndrome' SubClassOf 'syndromic disease' -+ 'Vici syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0017533 -Label(s): postaxial polydactyly type B, unilateral -- 'postaxial polydactyly type B, unilateral' SubClassOf 'postaxial polydactyly type B' -+ 'postaxial polydactyly type B, unilateral' SubClassOf 'postaxial polydactyly type B' - -Class: http://purl.obolibrary.org/obo/MONDO_0017534 -Label(s): postaxial polydactyly type B, bilateral -- 'postaxial polydactyly type B, bilateral' SubClassOf 'postaxial polydactyly type B' -+ 'postaxial polydactyly type B, bilateral' SubClassOf 'postaxial polydactyly type B' - -Class: http://purl.obolibrary.org/obo/MONDO_0017535 -Label(s): central polydactyly of fingers, unilateral -- 'central polydactyly of fingers, unilateral' SubClassOf 'central polydactyly of fingers' -+ 'central polydactyly of fingers, unilateral' SubClassOf 'central polydactyly of fingers' - -Class: http://purl.obolibrary.org/obo/MONDO_0017536 -Label(s): central polydactyly of fingers, bilateral -- 'central polydactyly of fingers, bilateral' SubClassOf 'central polydactyly of fingers' -+ 'central polydactyly of fingers, bilateral' SubClassOf 'central polydactyly of fingers' - -Class: http://www.ebi.ac.uk/efo/EFO_1000459 -Label(s): Parotid Gland Adenoid Cystic Carcinoma -- 'Parotid Gland Adenoid Cystic Carcinoma' SubClassOf 'major salivary gland adenoid cystic carcinoma' -+ 'Parotid Gland Adenoid Cystic Carcinoma' SubClassOf 'major salivary gland adenoid cystic carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0009440 -Label(s): ichthyosiform erythroderma, corneal involvement, and hearing loss -- 'ichthyosiform erythroderma, corneal involvement, and hearing loss' SubClassOf 'KID syndrome' -+ 'ichthyosiform erythroderma, corneal involvement, and hearing loss' SubClassOf 'KID syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0017543 -Label(s): zygodactyly type 2 -- 'zygodactyly type 2' SubClassOf 'syndactyly type 1' -+ 'zygodactyly type 2' SubClassOf 'syndactyly type 1' ++ 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0012341 Label(s): celiac disease, susceptibility to, 3 - 'celiac disease, susceptibility to, 3' SubClassOf 'predisposes towards' some 'celiac disease' -+ 'celiac disease, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'celiac disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009426 -Label(s): hypoparathyroidism-retardation-dysmorphism syndrome -- 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'syndromic disease' -+ 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012351 -Label(s): zygodactyly type 1 -- 'zygodactyly type 1' SubClassOf 'syndactyly type 1' -+ 'zygodactyly type 1' SubClassOf 'syndactyly type 1' - -Class: http://purl.obolibrary.org/obo/MONDO_0009414 -Label(s): glycogen storage disorder due to hepatic glycogen synthase deficiency -- 'glycogen storage disorder due to hepatic glycogen synthase deficiency' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disorder due to hepatic glycogen synthase deficiency' SubClassOf 'disorder of glycogen metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0009413 -Label(s): immunodeficiency, common variable, 2 -- 'immunodeficiency, common variable, 2' SubClassOf 'common variable immunodeficiency' -+ 'immunodeficiency, common variable, 2' SubClassOf 'common variable immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0017556 -Label(s): Madelung deformity, unilateral -- 'Madelung deformity, unilateral' SubClassOf 'Madelung deformity' -+ 'Madelung deformity, unilateral' SubClassOf 'Madelung deformity' ++ 'celiac disease, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'celiac disease' Class: http://purl.obolibrary.org/obo/MONDO_0009405 Label(s): cervical hypertrichosis-peripheral neuropathy syndrome - 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0009401 -Label(s): hyperprolinemia type 2 -- 'hyperprolinemia type 2' SubClassOf 'hyperprolinemia' -+ 'hyperprolinemia type 2' SubClassOf 'hyperprolinemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009400 -Label(s): hyperprolinemia type 1 -- 'hyperprolinemia type 1' SubClassOf 'hyperprolinemia' -+ 'hyperprolinemia type 1' SubClassOf 'hyperprolinemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0040500 -Label(s): glycosylphosphatidylinositol biosynthesis defect 16 -- 'glycosylphosphatidylinositol biosynthesis defect 16' SubClassOf 'autosomal recessive non-syndromic intellectual disability' -+ 'glycosylphosphatidylinositol biosynthesis defect 16' SubClassOf 'autosomal recessive non-syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0015025 -Label(s): developmental and epileptic encephalopathy, 51 -- 'developmental and epileptic encephalopathy, 51' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 51' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/GO_0005753 -Label(s): mitochondrial proton-transporting ATP synthase complex -- 'mitochondrial proton-transporting ATP synthase complex' SubClassOf 'cellular_component' -- 'mitochondrial proton-transporting ATP synthase complex' SubClassOf 'part_of' some 'membrane' -- 'mitochondrial proton-transporting ATP synthase complex' SubClassOf 'part_of' some 'mitochondrion' -+ 'mitochondrial proton-transporting ATP synthase complex' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/GO_0005750 -Label(s): mitochondrial respiratory chain complex III -- 'mitochondrial respiratory chain complex III' SubClassOf 'part_of' some 'membrane' -- 'mitochondrial respiratory chain complex III' SubClassOf 'cellular_component' -- 'mitochondrial respiratory chain complex III' SubClassOf 'part_of' some 'mitochondrion' -+ 'mitochondrial respiratory chain complex III' SubClassOf http://www.w3.org/2002/07/owl#Thing ++ 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0017571 Label(s): Proteus-like syndrome -- 'Proteus-like syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' - 'Proteus-like syndrome' SubClassOf 'disease shares features of' some 'Proteus syndrome' -+ 'Proteus-like syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' -+ 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Proteus syndrome' ++ 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Proteus syndrome' Class: http://www.ebi.ac.uk/efo/EFO_0000373 Label(s): congestive heart failure -- 'congestive heart failure' SubClassOf 'heart failure' - 'congestive heart failure' SubClassOf 'disease has major feature' some 'Congestive heart failure' -+ 'congestive heart failure' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Congestive heart failure' -+ 'congestive heart failure' SubClassOf 'heart failure' - -Class: http://www.ebi.ac.uk/efo/EFO_0000331 -Label(s): chondroblastoma -- 'chondroblastoma' SubClassOf 'bone benign neoplasm' -+ 'chondroblastoma' SubClassOf 'bone benign neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_0000330 -Label(s): childhood acute myeloid leukemia -- 'childhood acute myeloid leukemia' SubClassOf 'acute myeloid leukemia' -+ 'childhood acute myeloid leukemia' SubClassOf 'acute myeloid leukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014476 -Label(s): episodic ataxia type 8 -- 'episodic ataxia type 8' SubClassOf 'hereditary episodic ataxia' -+ 'episodic ataxia type 8' SubClassOf 'hereditary episodic ataxia' - -Class: http://www.ebi.ac.uk/efo/EFO_0000318 -Label(s): cardiomyopathy -- 'cardiomyopathy' SubClassOf 'heart disease' -+ 'cardiomyopathy' SubClassOf 'heart disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0000313 -Label(s): carcinoma -- 'carcinoma' SubClassOf 'cancer' -+ 'carcinoma' SubClassOf 'cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0014466 -Label(s): Neu-Laxova syndrome 2 -- 'Neu-Laxova syndrome 2' SubClassOf 'Neu-Laxova syndrome' -+ 'Neu-Laxova syndrome 2' SubClassOf 'Neu-Laxova syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0000309 -Label(s): Burkitts lymphoma -- 'Burkitts lymphoma' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' -+ 'Burkitts lymphoma' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0014456 -Label(s): autosomal recessive severe congenital neutropenia due to JAGN1 deficiency -- 'autosomal recessive severe congenital neutropenia due to JAGN1 deficiency' SubClassOf 'autosomal recessive severe congenital neutropenia' -+ 'autosomal recessive severe congenital neutropenia due to JAGN1 deficiency' SubClassOf 'autosomal recessive severe congenital neutropenia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014454 -Label(s): Hennekam lymphangiectasia-lymphedema syndrome 2 -- 'Hennekam lymphangiectasia-lymphedema syndrome 2' SubClassOf 'Hennekam syndrome' -+ 'Hennekam lymphangiectasia-lymphedema syndrome 2' SubClassOf 'Hennekam syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0014431 -Label(s): LIPE-related familial partial lipodystrophy -- 'LIPE-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' -+ 'LIPE-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' ++ 'congestive heart failure' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Congestive heart failure' + +Class: http://purl.obolibrary.org/obo/MONDO_0014471 +Label(s): mitochondrial proton-transporting ATP synthase complex deficiency +- 'mitochondrial proton-transporting ATP synthase complex deficiency' SubClassOf 'disease has basis in dysfunction of' some 'obsolete mitochondrial proton-transporting ATP synthase complex' +- 'mitochondrial proton-transporting ATP synthase complex deficiency' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some 'obsolete mitochondrial proton-transporting ATP synthase complex') Class: http://purl.obolibrary.org/obo/MONDO_0014419 Label(s): ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome - 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0014418 -Label(s): myopathy, centronuclear, 5 -- 'myopathy, centronuclear, 5' SubClassOf 'autosomal recessive centronuclear myopathy' -+ 'myopathy, centronuclear, 5' SubClassOf 'autosomal recessive centronuclear myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0014413 -Label(s): orofaciodigital syndrome type 14 -- 'orofaciodigital syndrome type 14' SubClassOf 'orofaciodigital syndrome' -+ 'orofaciodigital syndrome type 14' SubClassOf 'orofaciodigital syndrome' - -Class: http://purl.obolibrary.org/obo/GO_0000096 -Label(s): sulfur amino acid metabolic process -- 'sulfur amino acid metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0009394 -Label(s): juvenile Paget disease -- 'juvenile Paget disease' SubClassOf 'osteitis deformans' -+ 'juvenile Paget disease' SubClassOf 'osteitis deformans' - -Class: http://www.ebi.ac.uk/efo/EFO_0003017 -Label(s): transitional cell carcinoma of kidney -- 'transitional cell carcinoma of kidney' SubClassOf 'renal pelvis/ureter urothelial carcinoma' -+ 'transitional cell carcinoma of kidney' SubClassOf 'renal pelvis/ureter urothelial carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0009387 -Label(s): familial lipoprotein lipase deficiency -- 'familial lipoprotein lipase deficiency' SubClassOf 'familial chylomicronemia syndrome' -+ 'familial lipoprotein lipase deficiency' SubClassOf 'familial chylomicronemia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0001991 -Label(s): malignant cardiac germ cell tumor -- 'malignant cardiac germ cell tumor' SubClassOf 'extragonadal germ cell cancer' -- 'malignant cardiac germ cell tumor' SubClassOf 'cardiac germ cell tumor' -+ 'malignant cardiac germ cell tumor' SubClassOf 'extragonadal germ cell cancer' -+ 'malignant cardiac germ cell tumor' SubClassOf 'cardiac germ cell tumor' - -Class: http://www.ebi.ac.uk/efo/EFO_0003025 -Label(s): acute megakaryoblastic leukaemia -- 'acute megakaryoblastic leukaemia' SubClassOf 'acute myeloid leukemia by FAB classification' -+ 'acute megakaryoblastic leukaemia' SubClassOf 'acute myeloid leukemia by FAB classification' - -Class: http://www.ebi.ac.uk/efo/EFO_0003026 -Label(s): minimally differentiated acute myeloblastic leukemia -- 'minimally differentiated acute myeloblastic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' -+ 'minimally differentiated acute myeloblastic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' - -Class: http://purl.obolibrary.org/obo/MONDO_0009372 -Label(s): encephalopathy due to hydroxykynureninuria -- 'encephalopathy due to hydroxykynureninuria' SubClassOf 'inborn disorder of tryptophan metabolism' -+ 'encephalopathy due to hydroxykynureninuria' SubClassOf 'inborn disorder of tryptophan metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0009371 -Label(s): 3-hydroxyisobutyric aciduria -- '3-hydroxyisobutyric aciduria' SubClassOf 'classic organic aciduria' -+ '3-hydroxyisobutyric aciduria' SubClassOf 'classic organic aciduria' - -Class: http://purl.obolibrary.org/obo/MONDO_0009370 -Label(s): L-2-hydroxyglutaric aciduria -- 'L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' -+ 'L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' - -Class: http://purl.obolibrary.org/obo/MONDO_0009367 -Label(s): McKusick-Kaufman syndrome -- 'McKusick-Kaufman syndrome' SubClassOf 'genetic disorder' -+ 'McKusick-Kaufman syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040050 - -Class: http://purl.obolibrary.org/obo/MONDO_0009351 -Label(s): homocarnosinosis -- 'homocarnosinosis' SubClassOf 'inborn disorder of peptide metabolism' -+ 'homocarnosinosis' SubClassOf 'inborn disorder of peptide metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0009348 -Label(s): classic Hodgkin lymphoma -- 'classic Hodgkin lymphoma' SubClassOf 'Hodgkins lymphoma' -+ 'classic Hodgkin lymphoma' SubClassOf 'Hodgkins lymphoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0001949 -Label(s): acute thyroiditis -- 'acute thyroiditis' SubClassOf 'thyroiditis' -+ 'acute thyroiditis' SubClassOf 'thyroiditis' ++ 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' + +Class: http://www.ebi.ac.uk/efo/EFO_0005917 +Label(s): generalised epilepsy +- 'generalised epilepsy' SubClassOf 'idiopathic disease' +- 'generalised epilepsy' SubClassOf 'epilepsy' +- 'generalised epilepsy' SubClassOf 'hereditary neurological disease' ++ 'generalised epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100576 Class: http://purl.obolibrary.org/obo/MONDO_0001941 Label(s): blindness (disorder) - 'blindness (disorder)' SubClassOf 'disease has major feature' some 'Blindness' - 'blindness (disorder)' EquivalentTo 'vision disorder' and ('disease has major feature' some 'Blindness') -+ 'blindness (disorder)' EquivalentTo 'vision disorder' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Blindness') -+ 'blindness (disorder)' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Blindness' - -Class: http://purl.obolibrary.org/obo/MONDO_0009329 -Label(s): pulmonary venoocclusive disease 2 -- 'pulmonary venoocclusive disease 2' SubClassOf 'pulmonary venoocclusive disease' -+ 'pulmonary venoocclusive disease 2' SubClassOf 'pulmonary venoocclusive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012481 -Label(s): mevalonic aciduria -- 'mevalonic aciduria' SubClassOf 'mevalonate kinase deficiency' -+ 'mevalonic aciduria' SubClassOf 'mevalonate kinase deficiency' - -Class: http://www.ebi.ac.uk/efo/EFO_0000279 -Label(s): azoospermia -- 'azoospermia' SubClassOf 'male infertility' -+ 'azoospermia' SubClassOf 'male infertility' - -Class: http://www.ebi.ac.uk/efo/EFO_0000274 -Label(s): atopic eczema -- 'atopic eczema' SubClassOf 'hereditary skin disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0014397 -Label(s): combined oxidative phosphorylation defect type 20 -- 'combined oxidative phosphorylation defect type 20' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation defect type 20' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0014388 -Label(s): familial median cleft of the upper and lower lips -- 'familial median cleft of the upper and lower lips' SubClassOf 'orofacial cleft' -+ 'familial median cleft of the upper and lower lips' SubClassOf 'orofacial cleft' - -Class: http://purl.obolibrary.org/obo/MONDO_0014386 -Label(s): platelet-type bleeding disorder 18 -- 'platelet-type bleeding disorder 18' SubClassOf 'inherited bleeding disorder, platelet-type' -+ 'platelet-type bleeding disorder 18' SubClassOf 'inherited bleeding disorder, platelet-type' - -Class: http://purl.obolibrary.org/obo/MONDO_0014380 -Label(s): colobomatous microphthalmia-rhizomelic dysplasia syndrome -- 'colobomatous microphthalmia-rhizomelic dysplasia syndrome' SubClassOf 'syndromic microphthalmia' -+ 'colobomatous microphthalmia-rhizomelic dysplasia syndrome' SubClassOf 'syndromic microphthalmia' - -Class: http://www.ebi.ac.uk/efo/EFO_0000224 -Label(s): acute promyelocytic leukemia -- 'acute promyelocytic leukemia' SubClassOf 'acute myeloid leukemia' -+ 'acute promyelocytic leukemia' SubClassOf 'acute myeloid leukemia' - -Class: http://www.ebi.ac.uk/efo/EFO_0000223 -Label(s): acute myelomonocytic leukemia -- 'acute myelomonocytic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' -+ 'acute myelomonocytic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' - -Class: http://www.ebi.ac.uk/efo/EFO_0000222 -Label(s): acute myeloid leukemia -- 'acute myeloid leukemia' SubClassOf 'Acute Leukemia' -+ 'acute myeloid leukemia' SubClassOf 'Acute Leukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014366 -Label(s): spermatogenic failure 14 -- 'spermatogenic failure 14' SubClassOf 'azoospermia' -+ 'spermatogenic failure 14' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014365 -Label(s): spermatogenic failure 13 -- 'spermatogenic failure 13' SubClassOf 'azoospermia' -+ 'spermatogenic failure 13' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014361 -Label(s): autism spectrum disorder due to AUTS2 deficiency -- 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'intellectual disability, autosomal dominant' -+ 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'intellectual disability, autosomal dominant' - -Class: http://www.ebi.ac.uk/efo/EFO_0000209 -Label(s): T-cell acute lymphoblastic leukemia -- 'T-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' -+ 'T-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' ++ 'blindness (disorder)' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Blindness' ++ 'blindness (disorder)' EquivalentTo 'vision disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Blindness') Class: http://www.ebi.ac.uk/efo/EFO_0000206 Label(s): stage II endometrioid carcinoma - 'stage II endometrioid carcinoma' SubClassOf 'part of progression of disease' some 'endometrial carcinoma' -+ 'stage II endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#part_of_progression_of_disease some 'endometrial carcinoma' ++ 'stage II endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease some 'endometrial carcinoma' Class: http://www.ebi.ac.uk/efo/EFO_0000205 Label(s): stage I endometrioid carcinoma - 'stage I endometrioid carcinoma' SubClassOf 'part of progression of disease' some 'endometrial carcinoma' -+ 'stage I endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#part_of_progression_of_disease some 'endometrial carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0014355 -Label(s): cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis -+ 'cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis' SubClassOf 'erythrokeratoderma' - -Class: http://purl.obolibrary.org/obo/MONDO_0014328 -Label(s): developmental and epileptic encephalopathy, 19 -- 'developmental and epileptic encephalopathy, 19' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 19' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/DOID_10113 -Label(s): trypanosomiasis -- 'trypanosomiasis' SubClassOf 'protozoa infectious disease' -+ 'trypanosomiasis' SubClassOf 'protozoa infectious disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0014313 -Label(s): autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity -- 'autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity' SubClassOf 'inborn error of immunity' -+ 'autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity' SubClassOf 'inborn error of immunity' - -Class: http://www.ebi.ac.uk/efo/EFO_0005855 -Label(s): narcolepsy without cataplexy -- 'narcolepsy without cataplexy' SubClassOf 'narcolepsy' -+ 'narcolepsy without cataplexy' SubClassOf 'narcolepsy' - -Class: http://www.ebi.ac.uk/efo/EFO_0005854 -Label(s): allergic rhinitis -- 'allergic rhinitis' SubClassOf 'allergic respiratory disease' -+ 'allergic rhinitis' SubClassOf 'allergic respiratory disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0014300 -Label(s): proximal myopathy with extrapyramidal signs -- 'proximal myopathy with extrapyramidal signs' SubClassOf 'myopathy' -+ 'proximal myopathy with extrapyramidal signs' SubClassOf 'myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0017489 -Label(s): ulnar hemimelia, unilateral -- 'ulnar hemimelia, unilateral' SubClassOf 'ulnar hemimelia' -+ 'ulnar hemimelia, unilateral' SubClassOf 'ulnar hemimelia' - -Class: http://purl.obolibrary.org/obo/MONDO_0019952 -Label(s): congenital myopathy -- 'congenital myopathy' SubClassOf 'myopathy' -+ 'congenital myopathy' SubClassOf 'myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0009295 -Label(s): glycogen storage disease VII -- 'glycogen storage disease VII' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disease VII' SubClassOf 'disorder of glycogen metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0009294 -Label(s): glycogen storage disease VI -- 'glycogen storage disease VI' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disease VI' SubClassOf 'disorder of glycogen metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0009292 -Label(s): glycogen storage disease due to glycogen branching enzyme deficiency -- 'glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'disorder of glycogen metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0009290 -Label(s): glycogen storage disease II -- 'glycogen storage disease II' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disease II' SubClassOf 'disorder of glycogen metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0019942 -Label(s): distal arthrogryposis -- 'distal arthrogryposis' SubClassOf 'arthrogryposis syndrome' -+ 'distal arthrogryposis' SubClassOf 'arthrogryposis syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011240 -Label(s): megalencephaly-capillary malformation-polymicrogyria syndrome -+ 'megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040002 - -Class: http://purl.obolibrary.org/obo/MONDO_0009287 -Label(s): glycogen storage disease due to glucose-6-phosphatase deficiency type IA -- 'glycogen storage disease due to glucose-6-phosphatase deficiency type IA' SubClassOf 'glycogen storage disease I' -+ 'glycogen storage disease due to glucose-6-phosphatase deficiency type IA' SubClassOf 'glycogen storage disease I' - -Class: http://purl.obolibrary.org/obo/MONDO_0009284 -Label(s): glutathione synthetase deficiency without 5-oxoprolinuria -- 'glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'inherited glutathione synthetase deficiency' -+ 'glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'inherited glutathione synthetase deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0009281 -Label(s): glutaryl-CoA dehydrogenase deficiency -- 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'inborn organic aciduria' -+ 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'inborn organic aciduria' - -Class: http://purl.obolibrary.org/obo/MONDO_0009279 -Label(s): triple-A syndrome -- 'triple-A syndrome' SubClassOf 'syndromic disease' -+ 'triple-A syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0001884 -Label(s): abducens nerve neoplasm -- 'abducens nerve neoplasm' SubClassOf 'abducens nerve disorder' -+ 'abducens nerve neoplasm' SubClassOf 'abducens nerve disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0009263 -Label(s): GAPO syndrome -- 'GAPO syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'GAPO syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0009261 -Label(s): GM1 gangliosidosis type 2 -- 'GM1 gangliosidosis type 2' SubClassOf 'GM1 gangliosidosis' -+ 'GM1 gangliosidosis type 2' SubClassOf 'GM1 gangliosidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0009260 -Label(s): GM1 gangliosidosis type 1 -- 'GM1 gangliosidosis type 1' SubClassOf 'GM1 gangliosidosis' -+ 'GM1 gangliosidosis type 1' SubClassOf 'GM1 gangliosidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0012512 -Label(s): fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 -- 'fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0009258 -Label(s): classic galactosemia -- 'classic galactosemia' SubClassOf 'galactosemia' -+ 'classic galactosemia' SubClassOf 'galactosemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009257 -Label(s): galactose epimerase deficiency -- 'galactose epimerase deficiency' SubClassOf 'galactosemia' -+ 'galactose epimerase deficiency' SubClassOf 'galactosemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009255 -Label(s): galactokinase deficiency -- 'galactokinase deficiency' SubClassOf 'galactosemia' -+ 'galactokinase deficiency' SubClassOf 'galactosemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009254 -Label(s): fucosidosis -- 'fucosidosis' SubClassOf 'oligosaccharidosis' -- 'fucosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' -+ 'fucosidosis' SubClassOf 'oligosaccharidosis' -+ 'fucosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' - -Class: http://purl.obolibrary.org/obo/MONDO_0009252 -Label(s): essential fructosuria -- 'essential fructosuria' SubClassOf 'disorder of fructose metabolism' -+ 'essential fructosuria' SubClassOf 'disorder of fructose metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0012526 -Label(s): hereditary angioedema type 3 -- 'hereditary angioedema type 3' SubClassOf 'hereditary angioedema' -+ 'hereditary angioedema type 3' SubClassOf 'hereditary angioedema' - -Class: http://purl.obolibrary.org/obo/MONDO_0009242 -Label(s): brittle cornea syndrome -- 'brittle cornea syndrome' SubClassOf 'autosomal recessive disease' -+ 'brittle cornea syndrome' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009240 -Label(s): formiminoglutamic aciduria -- 'formiminoglutamic aciduria' SubClassOf 'disorder of folate metabolism and transport' -+ 'formiminoglutamic aciduria' SubClassOf 'disorder of folate metabolism and transport' - -Class: http://purl.obolibrary.org/obo/MONDO_0009238 -Label(s): hereditary folate malabsorption -- 'hereditary folate malabsorption' SubClassOf 'disorder of folate metabolism and transport' -+ 'hereditary folate malabsorption' SubClassOf 'disorder of folate metabolism and transport' - -Class: http://purl.obolibrary.org/obo/MONDO_0009236 -Label(s): Kandori fleck retina -- 'Kandori fleck retina' SubClassOf 'familial flecked retinopathy' -+ 'Kandori fleck retina' SubClassOf 'familial flecked retinopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0009231 -Label(s): acromesomelic dysplasia 2B -- 'acromesomelic dysplasia 2B' SubClassOf 'acromesomelic dysplasia' -+ 'acromesomelic dysplasia 2B' SubClassOf 'acromesomelic dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0001838 -Label(s): acute gonococcal prostatitis -- 'acute gonococcal prostatitis' SubClassOf 'gonococcal prostatitis' -+ 'acute gonococcal prostatitis' SubClassOf 'gonococcal prostatitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0013971 -Label(s): leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome -- 'leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://www.ebi.ac.uk/efo/EFO_0000199 -Label(s): oral squamous cell carcinoma -- 'oral squamous cell carcinoma' SubClassOf 'oral cavity carcinoma' -- 'oral squamous cell carcinoma' SubClassOf 'lip and oral cavity squamous cell carcinoma' -+ 'oral squamous cell carcinoma' SubClassOf 'oral cavity carcinoma' -+ 'oral squamous cell carcinoma' SubClassOf 'lip and oral cavity squamous cell carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0000191 -Label(s): MALT lymphoma -- 'MALT lymphoma' SubClassOf 'marginal zone B-cell lymphoma' -+ 'MALT lymphoma' SubClassOf 'marginal zone B-cell lymphoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0000178 -Label(s): gastric carcinoma -- 'gastric carcinoma' SubClassOf 'gastric cancer' -+ 'gastric carcinoma' SubClassOf 'gastric cancer' - -Class: http://www.ebi.ac.uk/efo/EFO_0000174 -Label(s): Ewing sarcoma -- 'Ewing sarcoma' SubClassOf 'sarcoma' -+ 'Ewing sarcoma' SubClassOf 'sarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0014280 -Label(s): immunodeficiency 19 -- 'immunodeficiency 19' SubClassOf 'familial severe combined immunodeficiency' -+ 'immunodeficiency 19' SubClassOf 'familial severe combined immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0014278 -Label(s): immunodeficiency 18 -- 'immunodeficiency 18' SubClassOf 'familial severe combined immunodeficiency' -+ 'immunodeficiency 18' SubClassOf 'familial severe combined immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0014270 -Label(s): STT3A-congenital disorder of glycosylation -- 'STT3A-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'STT3A-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0014261 -Label(s): growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome -- 'growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0014260 -Label(s): immunodeficiency, common variable, 10 -- 'immunodeficiency, common variable, 10' SubClassOf 'common variable immunodeficiency' -+ 'immunodeficiency, common variable, 10' SubClassOf 'common variable immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0014247 -Label(s): familial episodic pain syndrome with predominantly lower limb involvement -- 'familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'familial episodic pain syndrome' -+ 'familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'familial episodic pain syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0014246 -Label(s): episodic pain syndrome, familial, 2 -- 'episodic pain syndrome, familial, 2' SubClassOf 'familial episodic pain syndrome' -+ 'episodic pain syndrome, familial, 2' SubClassOf 'familial episodic pain syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0014242 -Label(s): van Maldergem syndrome 2 -- 'van Maldergem syndrome 2' SubClassOf 'van Maldergem syndrome' -+ 'van Maldergem syndrome 2' SubClassOf 'van Maldergem syndrome' ++ 'stage I endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease some 'endometrial carcinoma' Class: http://purl.obolibrary.org/obo/MONDO_0014241 Label(s): leukemia, acute lymphoblastic, susceptibility to, 3 - 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf 'predisposes towards' some 'acute lymphoblastic leukemia' -+ 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'acute lymphoblastic leukemia' ++ 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'acute lymphoblastic leukemia' Class: http://purl.obolibrary.org/obo/MONDO_0014232 Label(s): craniosynostosis 5, susceptibility to - 'craniosynostosis 5, susceptibility to' SubClassOf 'predisposes towards' some 'craniosynostosis' -+ 'craniosynostosis 5, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'craniosynostosis' - -Class: http://purl.obolibrary.org/obo/GO_0046146 -Label(s): tetrahydrobiopterin metabolic process -- 'tetrahydrobiopterin metabolic process' SubClassOf 'organonitrogen compound metabolic process' -+ 'tetrahydrobiopterin metabolic process' SubClassOf 'metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0014213 -Label(s): intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome -- 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'intellectual disability, autosomal dominant' -+ 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'intellectual disability, autosomal dominant' - -Class: http://purl.obolibrary.org/obo/MONDO_0014209 -Label(s): early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome -- 'early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf 'hereditary spastic paraplegia' -+ 'early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf 'hereditary spastic paraplegia' ++ 'craniosynostosis 5, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'craniosynostosis' Class: http://purl.obolibrary.org/obo/MONDO_0014201 Label(s): developmental and epileptic encephalopathy, 18 -- 'developmental and epileptic encephalopathy, 18' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 18' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0009192 -Label(s): Wolcott-Rallison syndrome -- 'Wolcott-Rallison syndrome' SubClassOf 'syndromic disease' -+ 'Wolcott-Rallison syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009189 -Label(s): multiple epiphyseal dysplasia type 4 -- 'multiple epiphyseal dysplasia type 4' SubClassOf 'multiple epiphyseal dysplasia' -+ 'multiple epiphyseal dysplasia type 4' SubClassOf 'multiple epiphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009183 -Label(s): junctional epidermolysis bullosa with pyloric atresia -- 'junctional epidermolysis bullosa with pyloric atresia' SubClassOf 'junctional epidermolysis bullosa' -+ 'junctional epidermolysis bullosa with pyloric atresia' SubClassOf 'junctional epidermolysis bullosa' - -Class: http://purl.obolibrary.org/obo/MONDO_0009182 -Label(s): junctional epidermolysis bullosa Herlitz type -- 'junctional epidermolysis bullosa Herlitz type' SubClassOf 'junctional epidermolysis bullosa' -+ 'junctional epidermolysis bullosa Herlitz type' SubClassOf 'junctional epidermolysis bullosa' - -Class: http://purl.obolibrary.org/obo/MONDO_0009181 -Label(s): epidermolysis bullosa simplex 5B, with muscular dystrophy -- 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'syndromic disease' -- 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'epidermolysis bullosa simplex' -+ 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'syndromic disease' -+ 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'epidermolysis bullosa simplex' - -Class: http://purl.obolibrary.org/obo/MONDO_0009180 -Label(s): junctional epidermolysis bullosa, non-Herlitz type -- 'junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'junctional epidermolysis bullosa' -+ 'junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'junctional epidermolysis bullosa' +- 'developmental and epileptic encephalopathy, 18' SubClassOf 'infantile epilepsy syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0012081 Label(s): 15q11q13 microduplication syndrome - '15q11q13 microduplication syndrome' SubClassOf 'predisposes towards' some 'autism' -+ '15q11q13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autism' - -Class: http://purl.obolibrary.org/obo/MONDO_0001784 -Label(s): malignant renovascular hypertension -- 'malignant renovascular hypertension' SubClassOf 'renal hypertension' -+ 'malignant renovascular hypertension' SubClassOf 'renal hypertension' - -Class: http://purl.obolibrary.org/obo/MONDO_0009166 -Label(s): pontocerebellar hypoplasia type 4 -- 'pontocerebellar hypoplasia type 4' SubClassOf 'pontocerebellar hypoplasia' -+ 'pontocerebellar hypoplasia type 4' SubClassOf 'pontocerebellar hypoplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0001776 -Label(s): prostate calculus -- 'prostate calculus' SubClassOf 'prostate disease' -+ 'prostate calculus' SubClassOf 'prostate disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009161 -Label(s): Ehlers-Danlos syndrome, dermatosparaxis type -- 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'Ehlers-Danlos syndrome' -+ 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'Ehlers-Danlos syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0009159 -Label(s): Ehlers-Danlos syndrome, cardiac valvular type -- 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'Ehlers-Danlos syndrome' -+ 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'Ehlers-Danlos syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0009155 -Label(s): EEM syndrome -- 'EEM syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'EEM syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0009151 -Label(s): cleft lip/palate-ectodermal dysplasia syndrome -- 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_1001121 -Label(s): prediabetes syndrome -- 'prediabetes syndrome' SubClassOf 'glucose metabolism disease' -+ 'prediabetes syndrome' SubClassOf 'glucose metabolism disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0001743 -Label(s): paranasal sinus lymphoma -- 'paranasal sinus lymphoma' SubClassOf 'paranasal sinus cancer' -+ 'paranasal sinus lymphoma' SubClassOf 'paranasal sinus cancer' - -Class: http://purl.obolibrary.org/obo/GO_0006558 -Label(s): L-phenylalanine metabolic process -- 'L-phenylalanine metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0009123 -Label(s): orthostatic hypotension 1 -- 'orthostatic hypotension 1' SubClassOf 'inherited orthostatic hypotension' -+ 'orthostatic hypotension 1' SubClassOf 'inherited orthostatic hypotension' - -Class: http://purl.obolibrary.org/obo/GO_0006568 -Label(s): tryptophan metabolic process -- 'tryptophan metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0009109 -Label(s): lysinuric protein intolerance -- 'lysinuric protein intolerance' SubClassOf 'inborn disorder of amino acid transport' -+ 'lysinuric protein intolerance' SubClassOf 'inborn disorder of amino acid transport' - -Class: http://purl.obolibrary.org/obo/MONDO_0009108 -Label(s): hyperdibasic aminoaciduria type 1 -- 'hyperdibasic aminoaciduria type 1' SubClassOf 'inborn disorder of amino acid transport' -+ 'hyperdibasic aminoaciduria type 1' SubClassOf 'inborn disorder of amino acid transport' - -Class: http://www.ebi.ac.uk/efo/EFO_0008519 -Label(s): primary hyperparathyroidism -- 'primary hyperparathyroidism' SubClassOf 'hyperparathyroidism' -+ 'primary hyperparathyroidism' SubClassOf 'hyperparathyroidism' - -Class: http://purl.obolibrary.org/obo/MONDO_0100218 -Label(s): arthrogryposis multiplex congenita 5 -- 'arthrogryposis multiplex congenita 5' SubClassOf 'arthrogryposis multiplex congenita' -+ 'arthrogryposis multiplex congenita 5' SubClassOf 'arthrogryposis multiplex congenita' - -Class: http://purl.obolibrary.org/obo/MONDO_0024878 -Label(s): secondary carcinoma -- 'secondary carcinoma' SubClassOf 'carcinoma' -+ 'secondary carcinoma' SubClassOf 'carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0014197 -Label(s): combined immunodeficiency due to MALT1 deficiency -- 'combined immunodeficiency due to MALT1 deficiency' SubClassOf 'combined immunodeficiency' -+ 'combined immunodeficiency due to MALT1 deficiency' SubClassOf 'combined immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0014190 -Label(s): combined oxidative phosphorylation defect type 17 -- 'combined oxidative phosphorylation defect type 17' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation defect type 17' SubClassOf 'combined oxidative phosphorylation deficiency' ++ '15q11q13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism' Class: http://purl.obolibrary.org/obo/MONDO_0014189 Label(s): age related macular degeneration 13 - 'age related macular degeneration 13' SubClassOf 'predisposes towards' some 'age-related macular degeneration' -+ 'age related macular degeneration 13' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'age-related macular degeneration' - -Class: http://purl.obolibrary.org/obo/MONDO_0014175 -Label(s): mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive -- 'mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive' SubClassOf 'mitochondrial DNA depletion syndrome' -+ 'mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive' SubClassOf 'mitochondrial DNA depletion syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0014165 -Label(s): multiple congenital anomalies-hypotonia-seizures syndrome 3 -- 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' -+ 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0014162 -Label(s): infantile hypertrophic cardiomyopathy due to MRPL44 deficiency -- 'infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0014141 -Label(s): muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 -- 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' -+ 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' - -Class: http://purl.obolibrary.org/obo/MONDO_0014137 -Label(s): precocious puberty, central, 2 -- 'precocious puberty, central, 2' SubClassOf 'Central precocious puberty' -+ 'precocious puberty, central, 2' SubClassOf 'Central precocious puberty' - -Class: http://purl.obolibrary.org/obo/MONDO_0014132 -Label(s): multiple mitochondrial dysfunctions syndrome 3 -- 'multiple mitochondrial dysfunctions syndrome 3' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' -+ 'multiple mitochondrial dysfunctions syndrome 3' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0014128 -Label(s): TCF12-related craniosynostosis -- 'TCF12-related craniosynostosis' SubClassOf 'syndromic craniosynostosis' -+ 'TCF12-related craniosynostosis' SubClassOf 'syndromic craniosynostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0014125 -Label(s): symphalangism, proximal, 1B -- 'symphalangism, proximal, 1B' SubClassOf 'proximal symphalangism' -+ 'symphalangism, proximal, 1B' SubClassOf 'proximal symphalangism' - -Class: http://purl.obolibrary.org/obo/MONDO_0014100 -Label(s): dilated cardiomyopathy 1KK -- 'dilated cardiomyopathy 1KK' SubClassOf 'familial restrictive cardiomyopathy' -- 'dilated cardiomyopathy 1KK' SubClassOf 'familial hypertrophic cardiomyopathy' -- 'dilated cardiomyopathy 1KK' SubClassOf 'familial dilated cardiomyopathy' -+ 'dilated cardiomyopathy 1KK' SubClassOf 'familial restrictive cardiomyopathy' -+ 'dilated cardiomyopathy 1KK' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'dilated cardiomyopathy 1KK' SubClassOf 'familial dilated cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0019797 -Label(s): acrodysostosis -- 'acrodysostosis' SubClassOf 'mandibulofacial dysostosis' -+ 'acrodysostosis' SubClassOf 'mandibulofacial dysostosis' - -Class: http://www.ebi.ac.uk/efo/EFO_0005631 -Label(s): rectal adenocarcinoma -- 'rectal adenocarcinoma' SubClassOf 'rectal carcinoma' -+ 'rectal adenocarcinoma' SubClassOf 'rectal carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0019757 -Label(s): alobar holoprosencephaly -- 'alobar holoprosencephaly' SubClassOf 'holoprosencephaly' -+ 'alobar holoprosencephaly' SubClassOf 'holoprosencephaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0019756 -Label(s): lobar holoprosencephaly -- 'lobar holoprosencephaly' SubClassOf 'holoprosencephaly' -+ 'lobar holoprosencephaly' SubClassOf 'holoprosencephaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0009095 -Label(s): dermatoosteolysis, Kirghizian type -- 'dermatoosteolysis, Kirghizian type' SubClassOf 'ectodermal dysplasia syndrome' -+ 'dermatoosteolysis, Kirghizian type' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0019746 -Label(s): cystinuria type B -- 'cystinuria type B' SubClassOf 'cystinuria' -+ 'cystinuria type B' SubClassOf 'cystinuria' - -Class: http://purl.obolibrary.org/obo/MONDO_0019745 -Label(s): cystinuria type A -- 'cystinuria type A' SubClassOf 'cystinuria' -+ 'cystinuria type A' SubClassOf 'cystinuria' ++ 'age related macular degeneration 13' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'age-related macular degeneration' Class: http://purl.obolibrary.org/obo/MONDO_0009084 Label(s): conductive deafness-ptosis-skeletal anomalies syndrome - 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf 'disease has major feature' some 'Conductive hearing impairment' -+ 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Conductive hearing impairment' - -Class: http://purl.obolibrary.org/obo/MONDO_0009082 -Label(s): high myopia-sensorineural deafness syndrome -- 'high myopia-sensorineural deafness syndrome' SubClassOf 'syndromic disease' -+ 'high myopia-sensorineural deafness syndrome' SubClassOf 'syndromic disease' ++ 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Conductive hearing impairment' Class: http://purl.obolibrary.org/obo/MONDO_0009080 Label(s): split hand-foot malformation 1 with sensorineural hearing loss - 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'disease has major feature' some 'Ectrodactyly' -+ 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Ectrodactyly' - -Class: http://purl.obolibrary.org/obo/MONDO_0009079 -Label(s): DOORS syndrome -- 'DOORS syndrome' SubClassOf 'syndromic disease' -+ 'DOORS syndrome' SubClassOf 'syndromic disease' ++ 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Ectrodactyly' Class: http://purl.obolibrary.org/obo/MONDO_0009075 Label(s): Dandy-Walker malformation-postaxial polydactyly syndrome - 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' ++ 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0009074 Label(s): facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome - 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0009067 -Label(s): cystinuria -- 'cystinuria' SubClassOf 'inborn disorder of amino acid transport' -+ 'cystinuria' SubClassOf 'inborn disorder of amino acid transport' - -Class: http://purl.obolibrary.org/obo/MONDO_0001676 -Label(s): erythropoietic protoporphyria -- 'erythropoietic protoporphyria' SubClassOf 'inherited porphyria' -+ 'erythropoietic protoporphyria' SubClassOf 'inherited porphyria' - -Class: http://purl.obolibrary.org/obo/MONDO_0009058 -Label(s): cystathioninuria -- 'cystathioninuria' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' -+ 'cystathioninuria' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0012716 -Label(s): spondyloepiphyseal dysplasia, Cantu type -- 'spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'spondyloepiphyseal dysplasia' -+ 'spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'spondyloepiphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0009046 -Label(s): Fraser syndrome -- 'Fraser syndrome' SubClassOf 'syndromic disease' -+ 'Fraser syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0001650 -Label(s): acute cystitis -- 'acute cystitis' SubClassOf 'cystitis' -+ 'acute cystitis' SubClassOf 'cystitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0001649 -Label(s): fungal esophagitis -- 'fungal esophagitis' SubClassOf 'fungal infectious disease' -+ 'fungal esophagitis' SubClassOf 'fungal infectious disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0009032 -Label(s): cranioectodermal dysplasia -- 'cranioectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' -+ 'cranioectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0009018 -Label(s): central cloudy dystrophy of François -- 'central cloudy dystrophy of François' SubClassOf 'stromal corneal dystrophy' -+ 'central cloudy dystrophy of François' SubClassOf 'stromal corneal dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0012784 -Label(s): autosomal recessive ataxia due to ubiquinone deficiency -- 'autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'coenzyme Q10 deficiency' -- 'autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'autosomal recessive cerebellar ataxia' -+ 'autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'coenzyme Q10 deficiency' -+ 'autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'autosomal recessive cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/GO_0005355 -Label(s): SLC2A1 tetramer transports Glc from cytosol to Golgi lumen glucose transmembrane transporter activity Transport of Extracellular Glucose to the Cytosol by GLUT1 and GLUT2 -- 'Transport of Extracellular Glucose to the Cytosol by GLUT1 and GLUT2' SubClassOf 'part_of' some 'glucose transmembrane transport' -- 'Transport of Extracellular Glucose to the Cytosol by GLUT1 and GLUT2' SubClassOf 'molecular_function' -+ 'Transport of Extracellular Glucose to the Cytosol by GLUT1 and GLUT2' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/MONDO_0017531 -Label(s): postaxial polydactyly type A, unilateral -- 'postaxial polydactyly type A, unilateral' SubClassOf 'postaxial polydactyly type A' -+ 'postaxial polydactyly type A, unilateral' SubClassOf 'postaxial polydactyly type A' - -Class: http://purl.obolibrary.org/obo/MONDO_0017532 -Label(s): postaxial polydactyly type A, bilateral -- 'postaxial polydactyly type A, bilateral' SubClassOf 'postaxial polydactyly type A' -+ 'postaxial polydactyly type A, bilateral' SubClassOf 'postaxial polydactyly type A' - -Class: http://purl.obolibrary.org/obo/MONDO_0014098 -Label(s): CIDEC-related familial partial lipodystrophy -- 'CIDEC-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' -+ 'CIDEC-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0017555 -Label(s): radio-ulnar synostosis, bilateral -- 'radio-ulnar synostosis, bilateral' SubClassOf 'congenital radioulnar synostosis' -+ 'radio-ulnar synostosis, bilateral' SubClassOf 'congenital radioulnar synostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0007709 -Label(s): hematuria, benign familial, 1 -- 'hematuria, benign familial, 1' SubClassOf 'hematuria, benign familial' -+ 'hematuria, benign familial, 1' SubClassOf 'hematuria, benign familial' - -Class: http://purl.obolibrary.org/obo/MONDO_0014078 -Label(s): platelet-type bleeding disorder 15 -- 'platelet-type bleeding disorder 15' SubClassOf 'inherited bleeding disorder, platelet-type' -+ 'platelet-type bleeding disorder 15' SubClassOf 'inherited bleeding disorder, platelet-type' - -Class: http://purl.obolibrary.org/obo/MONDO_0014076 -Label(s): dyskeratosis congenita, autosomal recessive 5 -- 'dyskeratosis congenita, autosomal recessive 5' SubClassOf 'autosomal recessive disease' -+ 'dyskeratosis congenita, autosomal recessive 5' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0014072 -Label(s): D,L-2-hydroxyglutaric aciduria -- 'D,L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' -+ 'D,L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' - -Class: http://purl.obolibrary.org/obo/MONDO_0014056 -Label(s): melanoma, cutaneous malignant, susceptibility to, 9 -- 'melanoma, cutaneous malignant, susceptibility to, 9' SubClassOf 'susceptibility to familial cutaneous melanoma' -+ 'melanoma, cutaneous malignant, susceptibility to, 9' SubClassOf 'susceptibility to familial cutaneous melanoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0012123 -Label(s): congenital disorder of glycosylation type 1E -- 'congenital disorder of glycosylation type 1E' SubClassOf 'congenital disorder of glycosylation type I' -+ 'congenital disorder of glycosylation type 1E' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0014047 -Label(s): Cowden syndrome 5 -- 'Cowden syndrome 5' SubClassOf 'Cowden disease' -+ 'Cowden syndrome 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040002 -+ 'Cowden syndrome 5' SubClassOf 'Cowden disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0014043 -Label(s): microcephalic primordial dwarfism due to ZNF335 deficiency -- 'microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'autosomal recessive primary microcephaly' -+ 'microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'autosomal recessive primary microcephaly' ++ 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' + +Class: http://purl.obolibrary.org/obo/MONDO_0014091 +Label(s): mitochondrial complex V (ATP synthase) deficiency nuclear type 4B +- 'mitochondrial complex V (ATP synthase) deficiency nuclear type 4B' SubClassOf 'combined oxidative phosphorylation deficiency 22' ++ 'mitochondrial complex V (ATP synthase) deficiency nuclear type 4B' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' Class: http://purl.obolibrary.org/obo/MONDO_0014038 Label(s): colorectal cancer, susceptibility to, 12 - 'colorectal cancer, susceptibility to, 12' SubClassOf 'predisposes towards' some 'colorectal cancer' -+ 'colorectal cancer, susceptibility to, 12' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'colorectal cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0014037 -Label(s): spermatogenic failure 11 -- 'spermatogenic failure 11' SubClassOf 'azoospermia' -+ 'spermatogenic failure 11' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014034 -Label(s): severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome -- 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'intellectual disability, autosomal dominant' -+ 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'intellectual disability, autosomal dominant' - -Class: http://purl.obolibrary.org/obo/MONDO_0957408 -Label(s): type 1 interferonopathy of childhood -- 'type 1 interferonopathy of childhood' SubClassOf 'autoinflammatory syndrome of childhood' -+ 'type 1 interferonopathy of childhood' SubClassOf 'autoinflammatory syndrome of childhood' - -Class: http://purl.obolibrary.org/obo/MONDO_0014023 -Label(s): congenital muscular dystrophy with intellectual disability and severe epilepsy -- 'congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'congenital disorder of glycosylation type I' -+ 'congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0014014 -Label(s): epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive -- 'epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive' SubClassOf 'epidermolysis bullosa simplex' -+ 'epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive' SubClassOf 'epidermolysis bullosa simplex' - -Class: http://purl.obolibrary.org/obo/MONDO_0957421 -Label(s): borna virus encephalitis -- 'borna virus encephalitis' SubClassOf 'viral encephalitis' -+ 'borna virus encephalitis' SubClassOf 'viral encephalitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0019682 -Label(s): congenital sialidosis type 2 -- 'congenital sialidosis type 2' SubClassOf 'sialidosis type 2' -+ 'congenital sialidosis type 2' SubClassOf 'sialidosis type 2' - -Class: http://purl.obolibrary.org/obo/MONDO_0019680 -Label(s): genochondromatosis type 2 -- 'genochondromatosis type 2' SubClassOf 'genochondromatosis' -+ 'genochondromatosis type 2' SubClassOf 'genochondromatosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0002108 -Label(s): thyroid cancer -- 'thyroid cancer' SubClassOf 'malignant endocrine neoplasm' -+ 'thyroid cancer' SubClassOf 'malignant endocrine neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0019667 -Label(s): spondyloepiphyseal dysplasia tarda -- 'spondyloepiphyseal dysplasia tarda' SubClassOf 'spondyloepiphyseal dysplasia' -+ 'spondyloepiphyseal dysplasia tarda' SubClassOf 'spondyloepiphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0019666 -Label(s): spondyloepimetaphyseal dysplasia, PAPSS2 type -- 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'spondyloepimetaphyseal dysplasia' -+ 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'spondyloepimetaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0019665 -Label(s): monostotic fibrous dysplasia -- 'monostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' -+ 'monostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0019662 -Label(s): short rib-polydactyly syndrome, Majewski type -- 'short rib-polydactyly syndrome, Majewski type' SubClassOf 'short rib-polydactyly syndrome' -+ 'short rib-polydactyly syndrome, Majewski type' SubClassOf 'short rib-polydactyly syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0019661 -Label(s): Pfeiffer syndrome type 3 -- 'Pfeiffer syndrome type 3' SubClassOf 'Pfeiffer syndrome' -+ 'Pfeiffer syndrome type 3' SubClassOf 'Pfeiffer syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0019660 -Label(s): Pfeiffer syndrome type 2 -- 'Pfeiffer syndrome type 2' SubClassOf 'Pfeiffer syndrome' -+ 'Pfeiffer syndrome type 2' SubClassOf 'Pfeiffer syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0019659 -Label(s): Pfeiffer syndrome type 1 -- 'Pfeiffer syndrome type 1' SubClassOf 'Pfeiffer syndrome' -+ 'Pfeiffer syndrome type 1' SubClassOf 'Pfeiffer syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0019636 -Label(s): renal agenesis, unilateral -- 'renal agenesis, unilateral' SubClassOf 'renal agenesis' -+ 'renal agenesis, unilateral' SubClassOf 'renal agenesis' - -Class: http://purl.obolibrary.org/obo/MONDO_0019624 -Label(s): acquired angioedema -- 'acquired angioedema' SubClassOf 'angioedema' -+ 'acquired angioedema' SubClassOf 'angioedema' - -Class: http://purl.obolibrary.org/obo/MONDO_0002172 -Label(s): otosalpingitis -- 'otosalpingitis' SubClassOf 'eustachian tube disease' -+ 'otosalpingitis' SubClassOf 'eustachian tube disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0002178 -Label(s): placenta cancer -- 'placenta cancer' SubClassOf 'uterine cancer' -+ 'placenta cancer' SubClassOf 'uterine cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0019609 -Label(s): Zellweger spectrum disorders -- 'Zellweger spectrum disorders' SubClassOf 'peroxisome biogenesis disorder' -+ 'Zellweger spectrum disorders' SubClassOf 'peroxisome biogenesis disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0001557 -Label(s): olecranon bursitis -- 'olecranon bursitis' SubClassOf 'bursitis' -+ 'olecranon bursitis' SubClassOf 'bursitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0030326 -Label(s): mitochondrial dna depletion syndrome 16B (neuroophthalmic type) -- 'mitochondrial dna depletion syndrome 16B (neuroophthalmic type)' SubClassOf 'mitochondrial DNA depletion syndrome' -+ 'mitochondrial dna depletion syndrome 16B (neuroophthalmic type)' SubClassOf 'mitochondrial DNA depletion syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0001530 -Label(s): secondary hyperparathyroidism of renal origin -- 'secondary hyperparathyroidism of renal origin' SubClassOf 'secondary hyperparathyroidism' -+ 'secondary hyperparathyroidism of renal origin' SubClassOf 'secondary hyperparathyroidism' - -Class: http://purl.obolibrary.org/obo/GO_0015939 -Label(s): pantothenate metabolic process -- 'pantothenate metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://www.ebi.ac.uk/efo/EFO_0008610 -Label(s): ocular cicatricial pemphigoid -- 'ocular cicatricial pemphigoid' SubClassOf 'mucous membrane pemphigoid' -+ 'ocular cicatricial pemphigoid' SubClassOf 'mucous membrane pemphigoid' - -Class: http://purl.obolibrary.org/obo/MONDO_0024673 -Label(s): skin lymphangioma -- 'skin lymphangioma' SubClassOf 'benign epithelial skin neoplasm' -+ 'skin lymphangioma' SubClassOf 'benign neoplasm of skin' - -Class: http://purl.obolibrary.org/obo/MONDO_0024637 -Label(s): malignant soft tissue neoplasm -- 'malignant soft tissue neoplasm' SubClassOf 'cancer' -+ 'malignant soft tissue neoplasm' SubClassOf 'cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0007113 -Label(s): Angelman syndrome -- 'Angelman syndrome' SubClassOf 'syndromic disease' -+ 'Angelman syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0019587 -Label(s): autosomal dominant nonsyndromic hearing loss -- 'autosomal dominant nonsyndromic hearing loss' SubClassOf 'postlingual non-syndromic genetic hearing loss' -- 'autosomal dominant nonsyndromic hearing loss' SubClassOf 'prelingual non-syndromic genetic hearing loss' -- 'autosomal dominant nonsyndromic hearing loss' SubClassOf 'autosomal dominant disease' -+ 'autosomal dominant nonsyndromic hearing loss' SubClassOf 'nonsyndromic genetic hearing loss' -+ 'autosomal dominant nonsyndromic hearing loss' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0019586 -Label(s): X-linked nonsyndromic hearing loss -- 'X-linked nonsyndromic hearing loss' SubClassOf 'prelingual non-syndromic genetic hearing loss' -- 'X-linked nonsyndromic hearing loss' SubClassOf 'postlingual non-syndromic genetic hearing loss' -+ 'X-linked nonsyndromic hearing loss' SubClassOf 'nonsyndromic genetic hearing loss' - -Class: http://purl.obolibrary.org/obo/MONDO_0019572 -Label(s): autosomal recessive cutis laxa type 1 -- 'autosomal recessive cutis laxa type 1' SubClassOf 'autosomal recessive disease' -+ 'autosomal recessive cutis laxa type 1' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0019571 -Label(s): autosomal dominant cutis laxa -- 'autosomal dominant cutis laxa' SubClassOf 'autosomal dominant disease' -+ 'autosomal dominant cutis laxa' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0019570 -Label(s): Cockayne syndrome type 2 -- 'Cockayne syndrome type 2' SubClassOf 'Cockayne syndrome' -+ 'Cockayne syndrome type 2' SubClassOf 'Cockayne syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0019569 -Label(s): Cockayne syndrome type 1 -- 'Cockayne syndrome type 1' SubClassOf 'Cockayne syndrome' -+ 'Cockayne syndrome type 1' SubClassOf 'Cockayne syndrome' ++ 'colorectal cancer, susceptibility to, 12' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer' Class: http://purl.obolibrary.org/obo/MONDO_0957560 Label(s): hearing loss, noise-induced, susceptibility to - 'hearing loss, noise-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'noise-induced hearing loss') - 'hearing loss, noise-induced, susceptibility to' SubClassOf 'predisposes towards' some 'noise-induced hearing loss' -+ 'hearing loss, noise-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'noise-induced hearing loss') -+ 'hearing loss, noise-induced, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'noise-induced hearing loss' - -Class: http://www.ebi.ac.uk/efo/EFO_0003027 -Label(s): acute myeloblastic leukemia without maturation -- 'acute myeloblastic leukemia without maturation' SubClassOf 'acute myeloid leukemia by FAB classification' -+ 'acute myeloblastic leukemia without maturation' SubClassOf 'acute myeloid leukemia by FAB classification' - -Class: http://purl.obolibrary.org/obo/MONDO_0002227 -Label(s): ovarian lymphoma -- 'ovarian lymphoma' SubClassOf 'lymphoma' -+ 'ovarian lymphoma' SubClassOf 'lymphoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0003028 -Label(s): acute myeloblastic leukemia with maturation -- 'acute myeloblastic leukemia with maturation' SubClassOf 'acute myeloid leukemia by FAB classification' -+ 'acute myeloblastic leukemia with maturation' SubClassOf 'acute myeloid leukemia by FAB classification' - -Class: http://purl.obolibrary.org/obo/MONDO_0019558 -Label(s): discoid lupus erythematosus -- 'discoid lupus erythematosus' SubClassOf 'chronic cutaneous lupus erythematosus' -+ 'discoid lupus erythematosus' SubClassOf 'chronic cutaneous lupus erythematosus' - -Class: http://purl.obolibrary.org/obo/MONDO_0017814 -Label(s): primary bone lymphoma -- 'primary bone lymphoma' SubClassOf 'Malignant Bone Neoplasm' -- 'primary bone lymphoma' SubClassOf 'primary organ-specific lymphoma' -+ 'primary bone lymphoma' SubClassOf 'Malignant Bone Neoplasm' -+ 'primary bone lymphoma' SubClassOf 'primary organ-specific lymphoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0019524 -Label(s): Bartter syndrome type 4 -- 'Bartter syndrome type 4' SubClassOf 'Bartter syndrome' -+ 'Bartter syndrome type 4' SubClassOf 'Bartter syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0019517 -Label(s): Waardenburg syndrome type 2 -- 'Waardenburg syndrome type 2' SubClassOf 'Waardenburg syndrome' -+ 'Waardenburg syndrome type 2' SubClassOf 'Waardenburg syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011907 -Label(s): acrocapitofemoral dysplasia -- 'acrocapitofemoral dysplasia' SubClassOf 'acromelic dysplasia' -+ 'acrocapitofemoral dysplasia' SubClassOf 'acromelic dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0019508 -Label(s): van der Woude syndrome -- 'van der Woude syndrome' SubClassOf 'syndromic disease' -+ 'van der Woude syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040010 - -Class: http://purl.obolibrary.org/obo/MONDO_0019503 -Label(s): anterior segment dysgenesis -- 'anterior segment dysgenesis' SubClassOf 'eye disease' -+ 'anterior segment dysgenesis' SubClassOf 'eye disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0019502 -Label(s): autosomal recessive non-syndromic intellectual disability -- 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'autosomal recessive disease' -+ 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0019501 -Label(s): Usher syndrome -- 'Usher syndrome' SubClassOf 'syndromic disease' -+ 'Usher syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0037002 -Label(s): benign phyllodes tumor -- 'benign phyllodes tumor' SubClassOf 'benign neoplasm' -+ 'benign phyllodes tumor' SubClassOf 'benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0030438 -Label(s): pontocerebellar hypoplasia, type 16 -- 'pontocerebellar hypoplasia, type 16' SubClassOf 'pontocerebellar hypoplasia' -+ 'pontocerebellar hypoplasia, type 16' SubClassOf 'pontocerebellar hypoplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0001420 -Label(s): trigeminal nerve neoplasm -- 'trigeminal nerve neoplasm' SubClassOf 'trigeminal nerve disease' -+ 'trigeminal nerve neoplasm' SubClassOf 'trigeminal nerve disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1001380 -Label(s): Niemann-Pick disease -- 'Niemann-Pick disease' SubClassOf 'sphingolipidosis' -+ 'Niemann-Pick disease' SubClassOf 'sphingolipidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0010406 -Label(s): chromosome Xp11.22 duplication syndrome -- 'chromosome Xp11.22 duplication syndrome' SubClassOf 'non-syndromic X-linked intellectual disability' -+ 'chromosome Xp11.22 duplication syndrome' SubClassOf 'non-syndromic X-linked intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0012982 -Label(s): episodic ataxia type 6 -- 'episodic ataxia type 6' SubClassOf 'hereditary episodic ataxia' -+ 'episodic ataxia type 6' SubClassOf 'hereditary episodic ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012983 -Label(s): cone-rod dystrophy 12 -- 'cone-rod dystrophy 12' SubClassOf 'cone-rod dystrophy' -+ 'cone-rod dystrophy 12' SubClassOf 'cone-rod dystrophy' -+ 'cone-rod dystrophy 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040056 - -Class: http://purl.obolibrary.org/obo/MONDO_0024573 -Label(s): familial hypertrophic cardiomyopathy -- 'familial hypertrophic cardiomyopathy' SubClassOf 'hypertrophic cardiomyopathy' -+ 'familial hypertrophic cardiomyopathy' SubClassOf 'hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0024568 -Label(s): infantile liver failure syndrome 1 -- 'infantile liver failure syndrome 1' SubClassOf 'infantile liver failure' -+ 'infantile liver failure syndrome 1' SubClassOf 'infantile liver failure' ++ 'hearing loss, noise-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'noise-induced hearing loss') ++ 'hearing loss, noise-induced, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'noise-induced hearing loss' + +Class: http://www.ebi.ac.uk/efo/EFO_0010492 +Label(s): glycocholic acid measurement +- 'glycocholic acid measurement' SubClassOf 'lipid measurement' ++ 'glycocholic acid measurement' SubClassOf 'bile acid measurement' Class: http://purl.obolibrary.org/obo/MONDO_0024512 Label(s): spondyloarthropathy, susceptibility to - 'spondyloarthropathy, susceptibility to' SubClassOf 'predisposes towards' some 'spondyloarthropathy' - 'spondyloarthropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'spondyloarthropathy') -+ 'spondyloarthropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'spondyloarthropathy') -+ 'spondyloarthropathy, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'spondyloarthropathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0019479 -Label(s): histiocytic sarcoma -- 'histiocytic sarcoma' SubClassOf 'Histiocytic and Dendritic Cell Neoplasm' -+ 'histiocytic sarcoma' SubClassOf 'Histiocytic and Dendritic Cell Neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0019456 -Label(s): acute myeloid leukemia with multilineage dysplasia -- 'acute myeloid leukemia with multilineage dysplasia' SubClassOf 'acute myeloid leukemia' -+ 'acute myeloid leukemia with multilineage dysplasia' SubClassOf 'acute myeloid leukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0019441 -Label(s): ATTRV122I amyloidosis -- 'ATTRV122I amyloidosis' SubClassOf 'familial amyloid neuropathy' -+ 'ATTRV122I amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0971004 - -Class: http://purl.obolibrary.org/obo/MONDO_0019439 -Label(s): AA amyloidosis -- 'AA amyloidosis' SubClassOf 'amyloidosis' -+ 'AA amyloidosis' SubClassOf 'amyloidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0019438 -Label(s): AL amyloidosis -- 'AL amyloidosis' SubClassOf 'amyloidosis' -+ 'AL amyloidosis' SubClassOf 'amyloidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0019411 -Label(s): genochondromatosis type 1 -- 'genochondromatosis type 1' SubClassOf 'genochondromatosis' -+ 'genochondromatosis type 1' SubClassOf 'genochondromatosis' ++ 'spondyloarthropathy, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'spondyloarthropathy' ++ 'spondyloarthropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'spondyloarthropathy') + +Class: http://purl.obolibrary.org/obo/MONDO_0019485 +Label(s): idiopathic hemiconvulsion-hemiplegia syndrome +- 'idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'generalised epilepsy' ++ 'idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'idiopathic disease' Class: http://purl.obolibrary.org/obo/MONDO_0012292 Label(s): hepatitis C virus, susceptibility to - 'hepatitis C virus, susceptibility to' SubClassOf 'predisposes towards' some 'hepatitis C virus infection' -+ 'hepatitis C virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'hepatitis C virus infection' - -Class: http://purl.obolibrary.org/obo/MONDO_0019409 -Label(s): idiopathic juvenile osteoporosis -- 'idiopathic juvenile osteoporosis' SubClassOf 'osteoporosis' -+ 'idiopathic juvenile osteoporosis' SubClassOf 'osteoporosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0019408 -Label(s): Astley-Kendall dysplasia -- 'Astley-Kendall dysplasia' SubClassOf 'chondrodysplasia punctata' -+ 'Astley-Kendall dysplasia' SubClassOf 'chondrodysplasia punctata' - -Class: http://purl.obolibrary.org/obo/MONDO_0002387 -Label(s): liver angiosarcoma -- 'liver angiosarcoma' SubClassOf 'hepatic vascular disorder' -+ 'liver angiosarcoma' SubClassOf 'hepatic vascular disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0002395 -Label(s): renal adenoma -- 'renal adenoma' SubClassOf 'kidney benign neoplasm' -- 'renal adenoma' SubClassOf 'adenoma' -+ 'renal adenoma' SubClassOf 'kidney benign neoplasm' -+ 'renal adenoma' SubClassOf 'adenoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0030522 -Label(s): spermatogenic failure 64 -- 'spermatogenic failure 64' SubClassOf 'azoospermia' -+ 'spermatogenic failure 64' SubClassOf 'azoospermia' ++ 'hepatitis C virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hepatitis C virus infection' Class: http://purl.obolibrary.org/obo/MONDO_0001340 Label(s): heart cancer - 'heart cancer' SubClassOf 'thoracic cancer' + 'heart cancer' SubClassOf 'thoracic cancer' -Class: http://purl.obolibrary.org/obo/MONDO_0012851 -Label(s): hypophosphatemic nephrolithiasis/osteoporosis 2 -- 'hypophosphatemic nephrolithiasis/osteoporosis 2' SubClassOf 'nephrolithiasis/osteoporosis, hypophosphatemic' -+ 'hypophosphatemic nephrolithiasis/osteoporosis 2' SubClassOf 'nephrolithiasis/osteoporosis, hypophosphatemic' - -Class: http://www.ebi.ac.uk/efo/EFO_0004799 -Label(s): cholelithiasis -- 'cholelithiasis' SubClassOf 'hereditary gallbladder disorder' -+ 'cholelithiasis' SubClassOf 'hereditary gallbladder disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0024499 -Label(s): vascular bone neoplasm -- 'vascular bone neoplasm' SubClassOf 'bone neoplasm' -+ 'vascular bone neoplasm' SubClassOf 'bone neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0054817 -Label(s): leukodystrophy, hypomyelinating, 17 -- 'leukodystrophy, hypomyelinating, 17' SubClassOf 'leukodystrophy' -+ 'leukodystrophy, hypomyelinating, 17' SubClassOf 'leukodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0024477 -Label(s): liver and intrahepatic bile duct neoplasm -- 'liver and intrahepatic bile duct neoplasm' SubClassOf 'liver disease' -+ 'liver and intrahepatic bile duct neoplasm' SubClassOf 'liver disease' - Class: http://purl.obolibrary.org/obo/MONDO_0100488 Label(s): CDH1-related diffuse gastric and lobular breast cancer syndrome - 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf 'predisposes towards' some 'hereditary gastric cancer' - 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf 'predisposes towards' some 'lobular breast carcinoma' -+ 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'lobular breast carcinoma' -+ 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'hereditary gastric cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0007221 -Label(s): brachydactyly type C -- 'brachydactyly type C' SubClassOf 'brachydactyly' -+ 'brachydactyly type C' SubClassOf 'brachydactyly' - -Class: http://purl.obolibrary.org/obo/MONDO_0054860 -Label(s): hearing loss, autosomal recessive 110 -- 'hearing loss, autosomal recessive 110' SubClassOf 'hearing loss, autosomal recessive' -+ 'hearing loss, autosomal recessive 110' SubClassOf 'hearing loss, autosomal recessive' - -Class: http://www.ebi.ac.uk/efo/EFO_0003103 -Label(s): urinary tract infection -- 'urinary tract infection' SubClassOf 'urinary system disease' -+ 'urinary tract infection' SubClassOf 'urinary system disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0002402 -Label(s): malignant giant cell tumor -- 'malignant giant cell tumor' SubClassOf 'cancer' -+ 'malignant giant cell tumor' SubClassOf 'cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0002407 -Label(s): capillary hemangioma -- 'capillary hemangioma' SubClassOf 'hemangioma' -+ 'capillary hemangioma' SubClassOf 'hemangioma' - -Class: http://purl.obolibrary.org/obo/MONDO_0019375 -Label(s): megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome -+ 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040002 - -Class: http://purl.obolibrary.org/obo/MONDO_0002418 -Label(s): ethmoid sinus adenocarcinoma -- 'ethmoid sinus adenocarcinoma' SubClassOf 'adenocarcinoma' -+ 'ethmoid sinus adenocarcinoma' SubClassOf 'adenocarcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0011971 -Label(s): hyper-IgM syndrome type 5 -- 'hyper-IgM syndrome type 5' SubClassOf 'hyper-IgM syndrome' -+ 'hyper-IgM syndrome type 5' SubClassOf 'hyper-IgM syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0019358 -Label(s): encephalopathy due to sulfite oxidase deficiency -- 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' -+ 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0019354 -Label(s): Stickler syndrome -- 'Stickler syndrome' SubClassOf 'syndromic disease' -+ 'Stickler syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0019349 -Label(s): Sotos syndrome -- 'Sotos syndrome' SubClassOf 'syndromic disease' -+ 'Sotos syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0019346 -Label(s): sialidosis type 1 -- 'sialidosis type 1' SubClassOf 'sialidosis' -+ 'sialidosis type 1' SubClassOf 'sialidosis' ++ 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'lobular breast carcinoma' ++ 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hereditary gastric cancer' + +Class: http://purl.obolibrary.org/obo/MONDO_0011428 +Label(s): ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ++ 'ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040001 + +Class: http://purl.obolibrary.org/obo/MONDO_0011970 +Label(s): rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ++ 'rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome' SubClassOf 'hereditary neurological disease' Class: http://purl.obolibrary.org/obo/MONDO_0011959 Label(s): sweet syndrome - 'sweet syndrome' SubClassOf 'skin disease' -+ 'sweet syndrome' SubClassOf 'skin disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0011957 -Label(s): retinal macular dystrophy type 2 -- 'retinal macular dystrophy type 2' SubClassOf 'macular dystrophy, retinal' -+ 'retinal macular dystrophy type 2' SubClassOf 'macular dystrophy, retinal' -+ 'retinal macular dystrophy type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040053 - -Class: http://purl.obolibrary.org/obo/MONDO_0019342 -Label(s): Seckel syndrome -- 'Seckel syndrome' SubClassOf 'syndromic disease' -+ 'Seckel syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0011950 -Label(s): infantile-onset autosomal recessive nonprogressive cerebellar ataxia -- 'infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' -+ 'infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0001298 -Label(s): congenital mitral valve insufficiency -- 'congenital mitral valve insufficiency' SubClassOf 'mitral valve disease' -+ 'congenital mitral valve insufficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_1030008 - -Class: http://purl.obolibrary.org/obo/MONDO_0002450 -Label(s): prostatic adenoma -- 'prostatic adenoma' SubClassOf 'benign epithelial neoplasm' -+ 'prostatic adenoma' SubClassOf 'benign epithelial neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0019327 -Label(s): phakomatosis spilorosea -- 'phakomatosis spilorosea' SubClassOf 'phakomatosis pigmentovascularis' -+ 'phakomatosis spilorosea' SubClassOf 'phakomatosis pigmentovascularis' - -Class: http://purl.obolibrary.org/obo/MONDO_0001275 -Label(s): spinal meningioma -- 'spinal meningioma' SubClassOf 'spinal cord neoplasm' -+ 'spinal meningioma' SubClassOf 'spinal cord neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0001251 -Label(s): chronic apical periodontitis -- 'chronic apical periodontitis' SubClassOf 'Periapical Periodontitis' -+ 'chronic apical periodontitis' SubClassOf 'Periapical Periodontitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0024387 -Label(s): benign ovarian sex cord-stromal tumor -- 'benign ovarian sex cord-stromal tumor' SubClassOf 'sex cord-stromal benign neoplasm' -+ 'benign ovarian sex cord-stromal tumor' SubClassOf 'sex cord-stromal benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0002779 -Label(s): central nervous system chondroma -- 'central nervous system chondroma' SubClassOf 'central nervous system organ benign neoplasm' -+ 'central nervous system chondroma' SubClassOf 'central nervous system organ benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0002794 -Label(s): adult medulloblastoma -- 'adult medulloblastoma' SubClassOf 'adult cerebellar neoplasm' -+ 'adult medulloblastoma' SubClassOf 'adult cerebellar neoplasm' ++ 'sweet syndrome' SubClassOf 'hereditary disorder of connective tissue' ++ 'sweet syndrome' SubClassOf 'hereditary skin disorder' Class: http://purl.obolibrary.org/obo/MONDO_0100308 Label(s): atactic disorder - 'atactic disorder' SubClassOf 'disease has major feature' some 'Ataxia' - 'atactic disorder' EquivalentTo 'nervous system disease' and ('disease has major feature' some 'Ataxia') -+ 'atactic disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Ataxia' -+ 'atactic disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Ataxia') ++ 'atactic disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Ataxia') ++ 'atactic disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Ataxia' Class: http://purl.obolibrary.org/obo/MONDO_0019290 Label(s): hypopigmentation of the skin - 'hypopigmentation of the skin' EquivalentTo 'disease' and ('disease has major feature' some 'Hypopigmentation of the skin') - 'hypopigmentation of the skin' SubClassOf 'disease has major feature' some 'Hypopigmentation of the skin' -+ 'hypopigmentation of the skin' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hypopigmentation of the skin' -+ 'hypopigmentation of the skin' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hypopigmentation of the skin') - -Class: http://purl.obolibrary.org/obo/MONDO_0957309 -Label(s): spastic paraplegia 90B, autosomal recessive -- 'spastic paraplegia 90B, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' -+ 'spastic paraplegia 90B, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' ++ 'hypopigmentation of the skin' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypopigmentation of the skin') ++ 'hypopigmentation of the skin' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypopigmentation of the skin' Class: http://purl.obolibrary.org/obo/MONDO_0019289 Label(s): hyperpigmentation of the skin - 'hyperpigmentation of the skin' EquivalentTo 'disease' and ('disease has major feature' some 'Hyperpigmentation of the skin') - 'hyperpigmentation of the skin' SubClassOf 'disease has major feature' some 'Hyperpigmentation of the skin' -+ 'hyperpigmentation of the skin' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperpigmentation of the skin' -+ 'hyperpigmentation of the skin' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperpigmentation of the skin') ++ 'hyperpigmentation of the skin' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperpigmentation of the skin' ++ 'hyperpigmentation of the skin' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperpigmentation of the skin') Class: http://purl.obolibrary.org/obo/MONDO_0019287 Label(s): ectodermal dysplasia syndrome - 'ectodermal dysplasia syndrome' SubClassOf 'disease_has_basis_in_development_of' some 'ectoderm' -+ 'ectodermal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_basis_in_development_of some 'ectoderm' - -Class: http://purl.obolibrary.org/obo/MONDO_0019284 -Label(s): inherited isolated nail anomaly -- 'inherited isolated nail anomaly' SubClassOf 'nail disorder' -+ 'inherited isolated nail anomaly' SubClassOf 'nail disorder' ++ 'ectodermal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of some 'ectoderm' Class: http://purl.obolibrary.org/obo/MONDO_0011892 Label(s): epilepsy, idiopathic generalized, susceptibility to, 9 - 'epilepsy, idiopathic generalized, susceptibility to, 9' SubClassOf 'predisposes towards' some 'generalised epilepsy' -+ 'epilepsy, idiopathic generalized, susceptibility to, 9' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'generalised epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0011881 -Label(s): keratosis palmoplantaris striata 3 -- 'keratosis palmoplantaris striata 3' SubClassOf 'striate palmoplantar keratoderma' -+ 'keratosis palmoplantaris striata 3' SubClassOf 'striate palmoplantar keratoderma' - -Class: http://purl.obolibrary.org/obo/MONDO_0019264 -Label(s): alpha-N-acetylgalactosaminidase deficiency type 3 -- 'alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' -+ 'alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0011877 -Label(s): autosomal dominant osteopetrosis 1 -- 'autosomal dominant osteopetrosis 1' SubClassOf 'autosomal dominant osteopetrosis' -+ 'autosomal dominant osteopetrosis 1' SubClassOf 'autosomal dominant osteopetrosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0019261 -Label(s): infantile neuronal ceroid lipofuscinosis -- 'infantile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' -+ 'infantile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0019260 -Label(s): adult neuronal ceroid lipofuscinosis -- 'adult neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' -+ 'adult neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0019259 -Label(s): classic phenylketonuria -- 'classic phenylketonuria' SubClassOf 'phenylketonuria' -+ 'classic phenylketonuria' SubClassOf 'phenylketonuria' - -Class: http://purl.obolibrary.org/obo/MONDO_0019251 -Label(s): oligosaccharidosis -- 'oligosaccharidosis' SubClassOf 'glycoproteinosis' -+ 'oligosaccharidosis' SubClassOf 'glycoproteinosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0019249 -Label(s): mucopolysaccharidosis -- 'mucopolysaccharidosis' SubClassOf 'lysosomal storage disease' -+ 'mucopolysaccharidosis' SubClassOf 'lysosomal storage disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0019248 -Label(s): mucolipidosis -- 'mucolipidosis' SubClassOf 'glycoproteinosis' -+ 'mucolipidosis' SubClassOf 'glycoproteinosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0019242 -Label(s): inborn disorder of branched-chain amino acid metabolism -- 'inborn disorder of branched-chain amino acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' -+ 'inborn disorder of branched-chain amino acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0017566 -Label(s): macrodactyly of toes, unilateral -- 'macrodactyly of toes, unilateral' SubClassOf 'macrodactyly of toes' -+ 'macrodactyly of toes, unilateral' SubClassOf 'macrodactyly of toes' - -Class: http://purl.obolibrary.org/obo/MONDO_0001192 -Label(s): esophageal melanoma -- 'esophageal melanoma' SubClassOf 'esophageal cancer' -- 'esophageal melanoma' SubClassOf 'digestive system melanoma' -+ 'esophageal melanoma' SubClassOf 'esophageal cancer' -+ 'esophageal melanoma' SubClassOf 'digestive system melanoma' - -Class: http://purl.obolibrary.org/obo/GO_0072521 -Label(s): purine-containing compound metabolic process -- 'purine-containing compound metabolic process' SubClassOf 'organonitrogen compound metabolic process' -+ 'purine-containing compound metabolic process' SubClassOf 'metabolic process' - -Class: http://purl.obolibrary.org/obo/GO_0072522 -Label(s): purine-containing compound biosynthetic process -- 'purine-containing compound biosynthetic process' SubClassOf 'organonitrogen compound biosynthetic process' -+ 'purine-containing compound biosynthetic process' SubClassOf 'biosynthetic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0019234 -Label(s): peroxisome biogenesis disorder -- 'peroxisome biogenesis disorder' SubClassOf 'peroxisomal disease' -+ 'peroxisome biogenesis disorder' SubClassOf 'peroxisomal disease' ++ 'epilepsy, idiopathic generalized, susceptibility to, 9' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy' Class: http://purl.obolibrary.org/obo/MONDO_0011847 Label(s): migraine without aura, susceptibility to, 4 -- 'migraine without aura, susceptibility to, 4' SubClassOf 'migraine with or without aura, susceptibility to' - 'migraine without aura, susceptibility to, 4' SubClassOf 'predisposes towards' some 'migraine without aura' -+ 'migraine without aura, susceptibility to, 4' SubClassOf 'migraine with or without aura, susceptibility to' -+ 'migraine without aura, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'migraine without aura' - -Class: http://purl.obolibrary.org/obo/MONDO_0011843 -Label(s): hypertrophic cardiomyopathy 25 -- 'hypertrophic cardiomyopathy 25' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'hypertrophic cardiomyopathy 25' SubClassOf 'familial hypertrophic cardiomyopathy' ++ 'migraine without aura, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'migraine without aura' Class: http://purl.obolibrary.org/obo/MONDO_0011841 Label(s): biotin-responsive basal ganglia disease - 'biotin-responsive basal ganglia disease' SubClassOf 'disease responds to' some 'biotin' - 'biotin-responsive basal ganglia disease' EquivalentTo 'basal ganglia disease' and ('disease responds to' some 'biotin') -+ 'biotin-responsive basal ganglia disease' EquivalentTo 'basal ganglia disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'biotin') -+ 'biotin-responsive basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'biotin' - -Class: http://purl.obolibrary.org/obo/MONDO_0012383 -Label(s): primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency -- 'primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'immunodeficiency disease' -+ 'primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'immunodeficiency disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0019228 -Label(s): inborn disorder of histidine metabolism -- 'inborn disorder of histidine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' -+ 'inborn disorder of histidine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0019220 -Label(s): inborn disorder of cobalamin metabolism and transport -- 'inborn disorder of cobalamin metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' -+ 'inborn disorder of cobalamin metabolism and transport' SubClassOf 'vitamin metabolic disorder' -+ 'inborn disorder of cobalamin metabolism and transport' SubClassOf 'vitamin B12 deficiency' -+ 'inborn disorder of cobalamin metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' - -Class: http://purl.obolibrary.org/obo/MONDO_0002574 -Label(s): prostate embryonal rhabdomyosarcoma -+ 'prostate embryonal rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700275 - -Class: http://purl.obolibrary.org/obo/MONDO_0001161 -Label(s): schizoid personality disorder -- 'schizoid personality disorder' SubClassOf 'personality disorder' -+ 'schizoid personality disorder' SubClassOf 'personality disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0011812 -Label(s): Duane-radial ray syndrome -- 'Duane-radial ray syndrome' SubClassOf 'syndromic disease' -+ 'Duane-radial ray syndrome' SubClassOf 'syndromic disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0003854 -Label(s): postmenopausal osteoporosis -- 'postmenopausal osteoporosis' SubClassOf 'osteoporosis' -+ 'postmenopausal osteoporosis' SubClassOf 'osteoporosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0001157 -Label(s): dependent personality disorder -- 'dependent personality disorder' SubClassOf 'personality disorder' -+ 'dependent personality disorder' SubClassOf 'personality disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0001123 -Label(s): chronic sphenoidal sinusitis -- 'chronic sphenoidal sinusitis' SubClassOf 'chronic rhinosinusitis' -+ 'chronic sphenoidal sinusitis' SubClassOf 'chronic rhinosinusitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0001112 -Label(s): bubonic plague -- 'bubonic plague' SubClassOf 'Yersinia pestis infectious disease' -+ 'bubonic plague' SubClassOf 'Yersinia pestis infectious disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0024296 -Label(s): vascular neoplasm -- 'vascular neoplasm' SubClassOf 'cardiovascular neoplasm' -+ 'vascular neoplasm' SubClassOf 'cardiovascular neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0024286 -Label(s): benign blood vessel neoplasm -- 'benign blood vessel neoplasm' SubClassOf 'cardiovascular organ benign neoplasm' -+ 'benign blood vessel neoplasm' SubClassOf 'cardiovascular organ benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0015000 -Label(s): developmental and epileptic encephalopathy, 48 -- 'developmental and epileptic encephalopathy, 48' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 48' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0015006 -Label(s): epidermolysis bullosa simplex 6, generalized, with scarring and hair loss -- 'epidermolysis bullosa simplex 6, generalized, with scarring and hair loss' SubClassOf 'epidermolysis bullosa simplex' -+ 'epidermolysis bullosa simplex 6, generalized, with scarring and hair loss' SubClassOf 'epidermolysis bullosa simplex' - -Class: http://purl.obolibrary.org/obo/MONDO_0015010 -Label(s): atypical glycine encephalopathy -- 'atypical glycine encephalopathy' SubClassOf 'glycine encephalopathy' -+ 'atypical glycine encephalopathy' SubClassOf 'glycine encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0015027 -Label(s): familial isolated hyperparathyroidism -- 'familial isolated hyperparathyroidism' SubClassOf 'familial primary hyperparathyroidism' -+ 'familial isolated hyperparathyroidism' SubClassOf 'familial primary hyperparathyroidism' - -Class: http://purl.obolibrary.org/obo/MONDO_0015035 -Label(s): lissencephaly with cerebellar hypoplasia type B -- 'lissencephaly with cerebellar hypoplasia type B' SubClassOf 'lissencephaly with cerebellar hypoplasia' -+ 'lissencephaly with cerebellar hypoplasia type B' SubClassOf 'lissencephaly with cerebellar hypoplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0015036 -Label(s): lissencephaly with cerebellar hypoplasia type C -- 'lissencephaly with cerebellar hypoplasia type C' SubClassOf 'lissencephaly with cerebellar hypoplasia' -+ 'lissencephaly with cerebellar hypoplasia type C' SubClassOf 'lissencephaly with cerebellar hypoplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0100296 -Label(s): Olmsted syndrome 1 -- 'Olmsted syndrome 1' SubClassOf 'Olmsted syndrome' -+ 'Olmsted syndrome 1' SubClassOf 'Olmsted syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0007301 -Label(s): cerebrocostomandibular syndrome -- 'cerebrocostomandibular syndrome' SubClassOf 'syndromic disease' -+ 'cerebrocostomandibular syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007029 -Label(s): branchio-oto-renal syndrome -- 'branchio-oto-renal syndrome' SubClassOf 'syndromic disease' -+ 'branchio-oto-renal syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0100213 -Label(s): IFAP syndrome 1, with or without BRESHECK syndrome -- 'IFAP syndrome 1, with or without BRESHECK syndrome' SubClassOf 'X-linked recessive disease' -- 'IFAP syndrome 1, with or without BRESHECK syndrome' SubClassOf 'IFAP syndrome' -+ 'IFAP syndrome 1, with or without BRESHECK syndrome' SubClassOf 'X-linked recessive disease' -+ 'IFAP syndrome 1, with or without BRESHECK syndrome' SubClassOf 'IFAP syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0100211 -Label(s): growth hormone insensitivity with immune dysregulation 1, autosomal recessive -- 'growth hormone insensitivity with immune dysregulation 1, autosomal recessive' SubClassOf 'autosomal recessive disease' -- 'growth hormone insensitivity with immune dysregulation 1, autosomal recessive' SubClassOf 'growth hormone insensitivity syndrome with immune dysregulation' -+ 'growth hormone insensitivity with immune dysregulation 1, autosomal recessive' SubClassOf 'autosomal recessive disease' -+ 'growth hormone insensitivity with immune dysregulation 1, autosomal recessive' SubClassOf 'growth hormone insensitivity syndrome with immune dysregulation' - -Class: http://www.ebi.ac.uk/efo/EFO_0005046 -Label(s): cutaneous Leishmaniasis -- 'cutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' -+ 'cutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' - -Class: http://www.ebi.ac.uk/efo/EFO_0005045 -Label(s): visceral Leishmaniasis -- 'visceral Leishmaniasis' SubClassOf 'Leishmaniasis' -+ 'visceral Leishmaniasis' SubClassOf 'Leishmaniasis' - -Class: http://www.ebi.ac.uk/efo/EFO_0005044 -Label(s): Leishmaniasis -- 'Leishmaniasis' SubClassOf 'protozoa infectious disease' -+ 'Leishmaniasis' SubClassOf 'protozoa infectious disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0019193 -Label(s): acquired generalized lipodystrophy -- 'acquired generalized lipodystrophy' SubClassOf 'generalized lipodystrophy' -+ 'acquired generalized lipodystrophy' SubClassOf 'generalized lipodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0019181 -Label(s): non-syndromic X-linked intellectual disability -- 'non-syndromic X-linked intellectual disability' SubClassOf 'non-syndromic intellectual disability' -+ 'non-syndromic X-linked intellectual disability' SubClassOf 'non-syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0011783 -Label(s): ALG12-congenital disorder of glycosylation -- 'ALG12-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'ALG12-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0019161 -Label(s): pseudohypoaldosteronism type 1 -- 'pseudohypoaldosteronism type 1' SubClassOf 'inherited pseudohypoaldosteronism' -+ 'pseudohypoaldosteronism type 1' SubClassOf 'inherited pseudohypoaldosteronism' ++ 'biotin-responsive basal ganglia disease' EquivalentTo 'basal ganglia disease' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'biotin') ++ 'biotin-responsive basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'biotin' + +Class: http://purl.obolibrary.org/obo/HP_0009763 +Label(s): Limb pain +- 'Limb pain' SubClassOf 'Abnormality of the skeletal system' + +Class: http://purl.obolibrary.org/obo/MONDO_0019169 +Label(s): pyruvate dehydrogenase deficiency +- 'pyruvate dehydrogenase deficiency' SubClassOf 'metabolic epilepsy' Class: http://purl.obolibrary.org/obo/MONDO_0011772 Label(s): B4GALT1-congenital disorder of glycosylation -- 'B4GALT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' - 'B4GALT1-congenital disorder of glycosylation' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'B4GALT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' -+ 'B4GALT1-congenital disorder of glycosylation' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0011771 -Label(s): neuronopathy, distal hereditary motor, autosomal recessive 3 -- 'neuronopathy, distal hereditary motor, autosomal recessive 3' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' -+ 'neuronopathy, distal hereditary motor, autosomal recessive 3' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' - -Class: http://purl.obolibrary.org/obo/MONDO_0007363 -Label(s): congenital contractural arachnodactyly -- 'congenital contractural arachnodactyly' SubClassOf 'distal arthrogryposis' -+ 'congenital contractural arachnodactyly' SubClassOf 'distal arthrogryposis' - -Class: http://purl.obolibrary.org/obo/MONDO_0019149 -Label(s): cholesteryl ester storage disease -- 'cholesteryl ester storage disease' SubClassOf 'lysosomal acid lipase deficiency' -+ 'cholesteryl ester storage disease' SubClassOf 'lysosomal acid lipase deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0011759 -Label(s): Hurler-Scheie syndrome -- 'Hurler-Scheie syndrome' SubClassOf 'mucopolysaccharidosis type 1' -+ 'Hurler-Scheie syndrome' SubClassOf 'mucopolysaccharidosis type 1' - -Class: http://purl.obolibrary.org/obo/MONDO_0019144 -Label(s): hereditary thrombophilia due to congenital protein S deficiency -- 'hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'protein S deficiency' -+ 'hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'protein S deficiency' ++ 'B4GALT1-congenital disorder of glycosylation' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0019132 Label(s): spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome - 'spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0011721 -Label(s): distal myopathy with anterior tibial onset -- 'distal myopathy with anterior tibial onset' SubClassOf 'distal myopathy' -+ 'distal myopathy with anterior tibial onset' SubClassOf 'distal myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0011720 -Label(s): spermatogenic failure 3 -- 'spermatogenic failure 3' SubClassOf 'azoospermia' -+ 'spermatogenic failure 3' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0019107 -Label(s): Rh deficiency syndrome -- 'Rh deficiency syndrome' SubClassOf 'hereditary stomatocytosis' -+ 'Rh deficiency syndrome' SubClassOf 'hereditary stomatocytosis' - -Class: http://www.ebi.ac.uk/efo/EFO_0003968 -Label(s): angiosarcoma -- 'angiosarcoma' SubClassOf 'vascular cancer' -+ 'angiosarcoma' SubClassOf 'vascular cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0001046 -Label(s): imperforate anus -- 'imperforate anus' SubClassOf 'anus disease' -+ 'imperforate anus' SubClassOf 'anus disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0001024 -Label(s): pneumonic plague -- 'pneumonic plague' SubClassOf 'lung disease' -- 'pneumonic plague' SubClassOf 'Yersinia pestis infectious disease' -+ 'pneumonic plague' SubClassOf 'lung disease' -+ 'pneumonic plague' SubClassOf 'Yersinia pestis infectious disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007874 -Label(s): trichorhinophalangeal syndrome type II -- 'trichorhinophalangeal syndrome type II' SubClassOf 'trichorhinophalangeal syndrome' -+ 'trichorhinophalangeal syndrome type II' SubClassOf 'trichorhinophalangeal syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0024183 -Label(s): wet beriberi -- 'wet beriberi' SubClassOf 'beriberi' -+ 'wet beriberi' SubClassOf 'beriberi' ++ 'spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0100195 Label(s): X-linked intellectual disability with hypopituitarism - 'X-linked intellectual disability with hypopituitarism' EquivalentTo 'syndromic intellectual disability' and ('disease has major feature' some 'hypopituitarism') - 'X-linked intellectual disability with hypopituitarism' SubClassOf 'disease has major feature' some 'hypopituitarism' -+ 'X-linked intellectual disability with hypopituitarism' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'hypopituitarism' -+ 'X-linked intellectual disability with hypopituitarism' EquivalentTo 'syndromic intellectual disability' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'hypopituitarism') ++ 'X-linked intellectual disability with hypopituitarism' EquivalentTo 'syndromic intellectual disability' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'hypopituitarism') ++ 'X-linked intellectual disability with hypopituitarism' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'hypopituitarism' Class: http://purl.obolibrary.org/obo/MONDO_0015140 Label(s): early-onset autosomal dominant Alzheimer disease -- 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'hereditary dementia' - 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'disease has major feature' some 'dementia' -- 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'inherited neurodegenerative disorder' -+ 'early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' - -Class: http://purl.obolibrary.org/obo/MONDO_0015148 -Label(s): lissencephaly type 3 -- 'lissencephaly type 3' SubClassOf 'lissencephaly spectrum disorders' -+ 'lissencephaly type 3' SubClassOf 'lissencephaly spectrum disorders' ++ 'early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' Class: http://purl.obolibrary.org/obo/MONDO_0100182 Label(s): schizophrenia, susceptibility to - 'schizophrenia, susceptibility to' SubClassOf 'predisposes towards' some 'schizophrenia' - 'schizophrenia, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'schizophrenia') -+ 'schizophrenia, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'schizophrenia') -+ 'schizophrenia, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'schizophrenia' - -Class: http://purl.obolibrary.org/obo/MONDO_0015739 -Label(s): adult-onset nemaline myopathy -- 'adult-onset nemaline myopathy' SubClassOf 'nemaline myopathy' -+ 'adult-onset nemaline myopathy' SubClassOf 'nemaline myopathy' ++ 'schizophrenia, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'schizophrenia' ++ 'schizophrenia, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'schizophrenia') Class: http://purl.obolibrary.org/obo/MONDO_0100178 Label(s): dermatitis, atopic, susceptibility to -- 'dermatitis, atopic, susceptibility to' SubClassOf 'predisposes towards' some 'dermatitis, atopic' -+ 'dermatitis, atopic, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'atopic eczema' +- 'dermatitis, atopic, susceptibility to' SubClassOf 'predisposes towards' some 'atopic eczema' ++ 'dermatitis, atopic, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'atopic eczema' Class: http://purl.obolibrary.org/obo/MONDO_0100173 Label(s): leukemia, acute myeloid, susceptibility to - 'leukemia, acute myeloid, susceptibility to' SubClassOf 'predisposes towards' some 'acute myeloid leukemia' -+ 'leukemia, acute myeloid, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'acute myeloid leukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0015240 -Label(s): digitotalar dysmorphism -- 'digitotalar dysmorphism' SubClassOf 'distal arthrogryposis' -+ 'digitotalar dysmorphism' SubClassOf 'distal arthrogryposis' ++ 'leukemia, acute myeloid, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'acute myeloid leukemia' Class: http://purl.obolibrary.org/obo/MONDO_0100167 Label(s): pulmonary disease, chronic obstructive, susceptibility to - 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf 'predisposes towards' some 'chronic obstructive pulmonary disease' -+ 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'chronic obstructive pulmonary disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0015183 -Label(s): short bowel syndrome -- 'short bowel syndrome' SubClassOf 'intestinal disease' -+ 'short bowel syndrome' SubClassOf 'intestinal disease' ++ 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'chronic obstructive pulmonary disease' Class: http://purl.obolibrary.org/obo/MONDO_0100135 Label(s): Dravet syndrome - 'Dravet syndrome' SubClassOf 'disease shares features of' some 'developmental and epileptic encephalopathy, 6' -- 'Dravet syndrome' SubClassOf 'developmental and epileptic encephalopathy' -+ 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'developmental and epileptic encephalopathy, 6' -+ 'Dravet syndrome' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0100130 -Label(s): adult acute respiratory distress syndrome -- 'adult acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' -+ 'adult acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' ++ 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'developmental and epileptic encephalopathy, 6' Class: http://purl.obolibrary.org/obo/MONDO_0100121 Label(s): SCN4A-related myopathy, autosomal recessive - 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'Decreased fetal movement' - 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'Skeletal muscle atrophy' - 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'craniosynostosis' -+ 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Skeletal muscle atrophy' -+ 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Decreased fetal movement' -+ 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'craniosynostosis' ++ 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Decreased fetal movement' ++ 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'craniosynostosis' ++ 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Skeletal muscle atrophy' Class: http://purl.obolibrary.org/obo/MONDO_0100110 Label(s): adenovirus renal infection - 'adenovirus renal infection' SubClassOf 'disease has major feature' some 'Severe adenovirus infection' -+ 'adenovirus renal infection' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Severe adenovirus infection' - -Class: http://purl.obolibrary.org/obo/MONDO_0011528 -Label(s): hyper-IgM syndrome type 2 -- 'hyper-IgM syndrome type 2' SubClassOf 'autosomal recessive disease' -- 'hyper-IgM syndrome type 2' SubClassOf 'hyper-IgM syndrome' -+ 'hyper-IgM syndrome type 2' SubClassOf 'autosomal recessive disease' -+ 'hyper-IgM syndrome type 2' SubClassOf 'hyper-IgM syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0007895 -Label(s): platyspondylic dysplasia, Torrance type -- 'platyspondylic dysplasia, Torrance type' SubClassOf 'spondylodysplastic dysplasia' -+ 'platyspondylic dysplasia, Torrance type' SubClassOf 'spondylodysplastic dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0019083 -Label(s): Leigh syndrome with cardiomyopathy -- 'Leigh syndrome with cardiomyopathy' SubClassOf 'Leigh syndrome' -+ 'Leigh syndrome with cardiomyopathy' SubClassOf 'Leigh syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0019079 -Label(s): proximal spinal muscular atrophy -- 'proximal spinal muscular atrophy' SubClassOf 'hereditary motor neuron disease' ++ 'adenovirus renal infection' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Severe adenovirus infection' Class: http://purl.obolibrary.org/obo/MONDO_0019078 Label(s): Ritscher-Schinzel syndrome - 'Ritscher-Schinzel syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Ritscher-Schinzel syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0011688 -Label(s): muscular dystrophy-dystroglycanopathy type B5 -- 'muscular dystrophy-dystroglycanopathy type B5' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' -+ 'muscular dystrophy-dystroglycanopathy type B5' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' - -Class: http://purl.obolibrary.org/obo/MONDO_0019071 -Label(s): pure hair and nail ectodermal dysplasia -- 'pure hair and nail ectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' -+ 'pure hair and nail ectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' ++ 'Ritscher-Schinzel syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0011684 Label(s): vitiligo-associated multiple autoimmune disease susceptibility 1 - 'vitiligo-associated multiple autoimmune disease susceptibility 1' SubClassOf 'predisposes towards' some 'type II hypersensitivity reaction disease' -+ 'vitiligo-associated multiple autoimmune disease susceptibility 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'type II hypersensitivity reaction disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0011683 -Label(s): oculocutaneous albinism type 4 -- 'oculocutaneous albinism type 4' SubClassOf 'oculocutaneous albinism' -+ 'oculocutaneous albinism type 4' SubClassOf 'oculocutaneous albinism' - -Class: http://purl.obolibrary.org/obo/MONDO_0011681 -Label(s): episodic ataxia type 4 -- 'episodic ataxia type 4' SubClassOf 'hereditary episodic ataxia' -+ 'episodic ataxia type 4' SubClassOf 'hereditary episodic ataxia' ++ 'vitiligo-associated multiple autoimmune disease susceptibility 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'type II hypersensitivity reaction disease' Class: http://purl.obolibrary.org/obo/MONDO_0011676 Label(s): PHACE syndrome - 'PHACE syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0011670 -Label(s): Ehlers-Danlos syndrome due to tenascin-X deficiency -- 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'Ehlers-Danlos syndrome' -+ 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'Ehlers-Danlos syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011669 -Label(s): hypotonia-cystinuria syndrome -- 'hypotonia-cystinuria syndrome' SubClassOf 'inborn disorder of amino acid transport' -+ 'hypotonia-cystinuria syndrome' SubClassOf 'inborn disorder of amino acid transport' ++ 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0019053 Label(s): peroxisomal disease -- 'peroxisomal disease' SubClassOf 'inborn errors of metabolism' -+ 'peroxisomal disease' SubClassOf 'inborn errors of metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0019052 -Label(s): inborn errors of metabolism -- 'inborn errors of metabolism' SubClassOf 'genetic disorder' -+ 'inborn errors of metabolism' SubClassOf 'genetic disorder' +- 'peroxisomal disease' SubClassOf 'hereditary neurological disease' +- 'peroxisomal disease' SubClassOf 'metabolic epilepsy' Class: http://purl.obolibrary.org/obo/MONDO_0019046 Label(s): leukodystrophy - 'leukodystrophy' SubClassOf 'disease has major feature' some 'CNS hypomyelination' -+ 'leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'CNS hypomyelination' - -Class: http://purl.obolibrary.org/obo/MONDO_0011652 -Label(s): Phelan-McDermid syndrome -- 'Phelan-McDermid syndrome' SubClassOf 'chromosome 22q deletion' -- 'Phelan-McDermid syndrome' SubClassOf 'genetic disorder' -+ 'Phelan-McDermid syndrome' SubClassOf 'syndromic disease' -+ 'Phelan-McDermid syndrome' SubClassOf 'genetic disorder' ++ 'leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'CNS hypomyelination' Class: http://purl.obolibrary.org/obo/MONDO_0011650 Label(s): atrioventricular septal defect, susceptibility to, 2 - 'atrioventricular septal defect, susceptibility to, 2' SubClassOf 'predisposes towards' some 'familial atrioventricular septal defect' -+ 'atrioventricular septal defect, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'familial atrioventricular septal defect' - -Class: http://purl.obolibrary.org/obo/MONDO_0019037 -Label(s): progressive supranuclear palsy -- 'progressive supranuclear palsy' SubClassOf 'movement disorder' -+ 'progressive supranuclear palsy' SubClassOf 'movement disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0019008 -Label(s): benign recurrent intrahepatic cholestasis -- 'benign recurrent intrahepatic cholestasis' SubClassOf 'inborn disorder of bilirubin metabolism' -+ 'benign recurrent intrahepatic cholestasis' SubClassOf 'inborn disorder of bilirubin metabolism' ++ 'atrioventricular septal defect, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'familial atrioventricular septal defect' Class: http://purl.obolibrary.org/obo/MONDO_0012132 Label(s): colorectal cancer, susceptibility to, 1 - 'colorectal cancer, susceptibility to, 1' SubClassOf 'predisposes towards' some 'colorectal cancer' -+ 'colorectal cancer, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'colorectal cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0100422 -Label(s): acute myeloid leukemia, RUNX1 gene mutation -- 'acute myeloid leukemia, RUNX1 gene mutation' SubClassOf 'acute myeloid leukemia' -+ 'acute myeloid leukemia, RUNX1 gene mutation' SubClassOf 'acute myeloid leukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0100428 -Label(s): progressive bulbar palsy of childhood -- 'progressive bulbar palsy of childhood' SubClassOf 'progressive bulbar palsy' -+ 'progressive bulbar palsy of childhood' SubClassOf 'progressive bulbar palsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0015204 -Label(s): microlissencephaly -- 'microlissencephaly' SubClassOf 'lissencephaly spectrum disorders' -+ 'microlissencephaly' SubClassOf 'lissencephaly spectrum disorders' - -Class: http://purl.obolibrary.org/obo/MONDO_0015205 -Label(s): isolated lissencephaly type 1 without known genetic defects -- 'isolated lissencephaly type 1 without known genetic defects' SubClassOf 'classic lissencephaly' -+ 'isolated lissencephaly type 1 without known genetic defects' SubClassOf 'classic lissencephaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0014048 -Label(s): Cowden syndrome 6 -- 'Cowden syndrome 6' SubClassOf 'Cowden disease' -+ 'Cowden syndrome 6' SubClassOf 'Cowden disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0015229 -Label(s): Bardet-Biedl syndrome -- 'Bardet-Biedl syndrome' SubClassOf 'syndromic disease' -+ 'Bardet-Biedl syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0100096 -Label(s): COVID-19 -- 'COVID-19' SubClassOf 'Orthocoronavirinae infectious disease' -+ 'COVID-19' SubClassOf 'Orthocoronavirinae infectious disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0100095 -Label(s): neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures -- 'neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures' SubClassOf 'autosomal recessive disease' -+ 'neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0957265 -Label(s): congenital myopathy 22B, severe fetal -- 'congenital myopathy 22B, severe fetal' SubClassOf 'congenital myopathy' -+ 'congenital myopathy 22B, severe fetal' SubClassOf 'congenital myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0100087 -Label(s): familial Alzheimer disease -+ 'familial Alzheimer disease' SubClassOf 'inherited neurodegenerative disorder' -+ 'familial Alzheimer disease' SubClassOf 'hereditary dementia' ++ 'colorectal cancer, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer' + +Class: http://purl.obolibrary.org/obo/MONDO_0015235 +Label(s): arachnodactyly-intellectual disability-dysmorphism syndrome ++ 'arachnodactyly-intellectual disability-dysmorphism syndrome' SubClassOf 'syndromic disease' Class: http://purl.obolibrary.org/obo/MONDO_0100079 Label(s): developmental and epileptic encephalopathy, 6 - 'developmental and epileptic encephalopathy, 6' SubClassOf 'disease shares features of' some 'Dravet syndrome' -- 'developmental and epileptic encephalopathy, 6' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 6' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Dravet syndrome' -+ 'developmental and epileptic encephalopathy, 6' SubClassOf 'developmental and epileptic encephalopathy' ++ 'developmental and epileptic encephalopathy, 6' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Dravet syndrome' Class: http://www.ebi.ac.uk/efo/EFO_1000800 Label(s): alcohol withdrawal delirium - 'alcohol withdrawal delirium' SubClassOf 'disease has major feature' some 'Delirium' -+ 'alcohol withdrawal delirium' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Delirium' ++ 'alcohol withdrawal delirium' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Delirium' + +Class: http://purl.obolibrary.org/obo/MONDO_0100062 +Label(s): developmental and epileptic encephalopathy +- 'developmental and epileptic encephalopathy' SubClassOf 'generalised epilepsy' Class: http://purl.obolibrary.org/obo/MONDO_0100052 Label(s): acetazolamide-responsive hereditary episodic ataxia - 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf 'disease responds to' some 'acetazolamide' - 'acetazolamide-responsive hereditary episodic ataxia' EquivalentTo 'hereditary episodic ataxia' and ('disease responds to' some 'acetazolamide') -+ 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'acetazolamide' -+ 'acetazolamide-responsive hereditary episodic ataxia' EquivalentTo 'hereditary episodic ataxia' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'acetazolamide') ++ 'acetazolamide-responsive hereditary episodic ataxia' EquivalentTo 'hereditary episodic ataxia' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide') ++ 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide' Class: http://purl.obolibrary.org/obo/MONDO_0100048 Label(s): graft-versus-host disease, susceptibility to - 'graft-versus-host disease, susceptibility to' SubClassOf 'predisposes towards' some 'graft versus host disease' -+ 'graft-versus-host disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'graft versus host disease' ++ 'graft-versus-host disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'graft versus host disease' Class: http://purl.obolibrary.org/obo/MONDO_0100046 Label(s): exfoliation syndrome, susceptibility to - 'exfoliation syndrome, susceptibility to' SubClassOf 'predisposes towards' some 'exfoliation syndrome' -+ 'exfoliation syndrome, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'exfoliation syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0007441 -Label(s): dentinogenesis imperfecta type 2 -- 'dentinogenesis imperfecta type 2' SubClassOf 'dentinogenesis imperfecta' -+ 'dentinogenesis imperfecta type 2' SubClassOf 'dentinogenesis imperfecta' ++ 'exfoliation syndrome, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'exfoliation syndrome' -Class: http://purl.obolibrary.org/obo/MONDO_0011595 -Label(s): nonsyndromic congenital nail disorder 7 -- 'nonsyndromic congenital nail disorder 7' SubClassOf 'inherited isolated nail anomaly' -+ 'nonsyndromic congenital nail disorder 7' SubClassOf 'inherited isolated nail anomaly' +Class: http://purl.obolibrary.org/obo/MONDO_0100029 +Label(s): antibody mediated epilepsy +- 'antibody mediated epilepsy' SubClassOf 'immune epilepsy' -Class: http://purl.obolibrary.org/obo/MONDO_0011585 -Label(s): autosomal recessive distal spinal muscular atrophy 2 -- 'autosomal recessive distal spinal muscular atrophy 2' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' -+ 'autosomal recessive distal spinal muscular atrophy 2' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' +Class: http://purl.obolibrary.org/obo/MONDO_0100028 +Label(s): immune epilepsy +- 'immune epilepsy' SubClassOf 'epilepsy' Class: http://purl.obolibrary.org/obo/MONDO_0011581 Label(s): arrhythmogenic cardiomyopathy with wooly hair and keratoderma - 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Woolly hair' - 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' - 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Palmoplantar keratoderma' -+ 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' -+ 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Woolly hair' -+ 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Palmoplantar keratoderma' - -Class: http://purl.obolibrary.org/obo/MONDO_0011577 -Label(s): myopathy, proximal, and ophthalmoplegia -- 'myopathy, proximal, and ophthalmoplegia' SubClassOf 'congenital myopathy' -+ 'myopathy, proximal, and ophthalmoplegia' SubClassOf 'congenital myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0011576 -Label(s): familial hyperaldosteronism type II -- 'familial hyperaldosteronism type II' SubClassOf 'familial hyperaldosteronism' -+ 'familial hyperaldosteronism type II' SubClassOf 'familial hyperaldosteronism' - -Class: http://purl.obolibrary.org/obo/MONDO_0002836 -Label(s): urethra transitional cell carcinoma -- 'urethra transitional cell carcinoma' SubClassOf 'urothelial carcinoma' -+ 'urethra transitional cell carcinoma' SubClassOf 'urothelial carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0002856 -Label(s): gallbladder rhabdomyosarcoma -+ 'gallbladder rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0020363 -Label(s): honey-droplet corneal dystrophy -- 'honey-droplet corneal dystrophy' SubClassOf 'superficial corneal dystrophy' -+ 'honey-droplet corneal dystrophy' SubClassOf 'superficial corneal dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0020388 -Label(s): double outlet right ventricle with non-committed subpulmonary ventricular septal defect -- 'double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf 'double outlet right ventricle' -+ 'double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf 'double outlet right ventricle' - -Class: http://purl.obolibrary.org/obo/MONDO_0017504 -Label(s): apodia, unilateral -- 'apodia, unilateral' SubClassOf 'apodia' -+ 'apodia, unilateral' SubClassOf 'apodia' - -Class: http://purl.obolibrary.org/obo/MONDO_0015307 -Label(s): Madras motor neuron disease -- 'Madras motor neuron disease' SubClassOf 'motor neuron disease' -+ 'Madras motor neuron disease' SubClassOf 'motor neuron disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0015339 -Label(s): adrenomyeloneuropathy -- 'adrenomyeloneuropathy' SubClassOf 'adrenoleukodystrophy' -+ 'adrenomyeloneuropathy' SubClassOf 'adrenoleukodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0015352 -Label(s): distal hereditary motor neuropathy type 2 -- 'distal hereditary motor neuropathy type 2' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' -+ 'distal hereditary motor neuropathy type 2' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' - -Class: http://purl.obolibrary.org/obo/MONDO_0012786 -Label(s): juvenile cataract-microcornea-renal glucosuria syndrome -- 'juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf 'autosomal dominant disease' -+ 'juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0017527 -Label(s): polydactyly of an index finger, unilateral -- 'polydactyly of an index finger, unilateral' SubClassOf 'polydactyly of an index finger' -+ 'polydactyly of an index finger, unilateral' SubClassOf 'polydactyly of an index finger' - -Class: http://purl.obolibrary.org/obo/MONDO_0016249 -Label(s): hereditary site-specific ovarian cancer syndrome -- 'hereditary site-specific ovarian cancer syndrome' SubClassOf 'familial ovarian cancer' -+ 'hereditary site-specific ovarian cancer syndrome' SubClassOf 'familial ovarian cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0011493 -Label(s): Stickler syndrome type 2 -- 'Stickler syndrome type 2' SubClassOf 'Stickler syndrome' -+ 'Stickler syndrome type 2' SubClassOf 'Stickler syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011476 -Label(s): MHC class I deficiency -- 'MHC class I deficiency' SubClassOf 'combined immunodeficiency' -+ 'MHC class I deficiency' SubClassOf 'combined immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0030064 -Label(s): episodic ataxia, type 9 -- 'episodic ataxia, type 9' SubClassOf 'hereditary episodic ataxia' -+ 'episodic ataxia, type 9' SubClassOf 'hereditary episodic ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0011461 -Label(s): generalized epilepsy with febrile seizures plus, type 2 -- 'generalized epilepsy with febrile seizures plus, type 2' SubClassOf 'generalized epilepsy with febrile seizures plus' -+ 'generalized epilepsy with febrile seizures plus, type 2' SubClassOf 'generalized epilepsy with febrile seizures plus' ++ 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' ++ 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Woolly hair' ++ 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Palmoplantar keratoderma' Class: http://purl.obolibrary.org/obo/MONDO_0011450 Label(s): breast-ovarian cancer, familial, susceptibility to, 1 - 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome' -+ 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'hereditary breast ovarian cancer syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011448 -Label(s): PPARG-related familial partial lipodystrophy -- 'PPARG-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' -+ 'PPARG-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' - -Class: http://www.ebi.ac.uk/efo/EFO_0002945 -Label(s): familial cardiomyopathy -- 'familial cardiomyopathy' SubClassOf 'cardiomyopathy' -+ 'familial cardiomyopathy' SubClassOf 'cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0020496 -Label(s): familial porencephaly -- 'familial porencephaly' SubClassOf 'porencephaly' -+ 'familial porencephaly' SubClassOf 'porencephaly' - -Class: http://www.ebi.ac.uk/efo/EFO_1001087 -Label(s): parathyroid adenoma -- 'parathyroid adenoma' SubClassOf 'benign neoplasm of parathyroid gland' -- 'parathyroid adenoma' SubClassOf 'adenoma' -+ 'parathyroid adenoma' SubClassOf 'benign neoplasm of parathyroid gland' -+ 'parathyroid adenoma' SubClassOf 'adenoma' ++ 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hereditary breast ovarian cancer syndrome' + +Class: http://purl.obolibrary.org/obo/HP_0010885 +Label(s): Avascular necrosis +- 'Avascular necrosis' SubClassOf 'Abnormality of the skeletal system' ++ 'Avascular necrosis' SubClassOf 'Phenotypic abnormality' + +Class: http://purl.obolibrary.org/obo/MONDO_0015424 +Label(s): lethal chondrodysplasia, Moerman type +- 'lethal chondrodysplasia, Moerman type' SubClassOf 'osteochondrodysplasia' +- 'lethal chondrodysplasia, Moerman type' SubClassOf 'skeletal dysplasia' ++ 'lethal chondrodysplasia, Moerman type' SubClassOf http://www.w3.org/2002/07/owl#Thing Class: http://purl.obolibrary.org/obo/MONDO_0018425 Label(s): Huntington disease-like syndrome due to C9ORF72 expansions - 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'disease has major feature' some 'dementia' -+ 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' ++ 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' -Class: http://purl.obolibrary.org/obo/MONDO_0015466 -Label(s): cranio-osteoarthropathy -- 'cranio-osteoarthropathy' SubClassOf 'primary hypertrophic osteoarthropathy' -+ 'cranio-osteoarthropathy' SubClassOf 'primary hypertrophic osteoarthropathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0007534 -Label(s): Beckwith-Wiedemann syndrome -- 'Beckwith-Wiedemann syndrome' SubClassOf 'overgrowth syndrome' -+ 'Beckwith-Wiedemann syndrome' SubClassOf 'overgrowth syndrome' +Class: http://purl.obolibrary.org/obo/MONDO_0024633 +Label(s): hypertensive nephropathy +- 'hypertensive nephropathy' SubClassOf 'inherited kidney disorder' ++ 'hypertensive nephropathy' SubClassOf 'kidney disease' Class: http://purl.obolibrary.org/obo/MONDO_0001627 Label(s): dementia - 'dementia' EquivalentTo 'cognitive disorder' and ('disease has major feature' some 'Dementia') - 'dementia' SubClassOf 'disease has major feature' some 'Dementia' -+ 'dementia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dementia' -+ 'dementia' EquivalentTo 'cognitive disorder' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dementia') - -Class: http://purl.obolibrary.org/obo/MONDO_0018450 -Label(s): spinal muscular atrophy with respiratory distress type 2 -- 'spinal muscular atrophy with respiratory distress type 2' SubClassOf 'hereditary motor neuron disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0011381 -Label(s): dominant beta-thalassemia -- 'dominant beta-thalassemia' SubClassOf 'beta thalassemia' -+ 'dominant beta-thalassemia' SubClassOf 'beta thalassemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0018458 -Label(s): familial hypocalciuric hypercalcemia -- 'familial hypocalciuric hypercalcemia' SubClassOf 'inborn errors of metabolism' -+ 'familial hypocalciuric hypercalcemia' SubClassOf 'inborn errors of metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0020507 -Label(s): leukoencephalopathy with vanishing white matter 1 -- 'leukoencephalopathy with vanishing white matter 1' SubClassOf 'leukoencephalopathy with vanishing white matter' -+ 'leukoencephalopathy with vanishing white matter 1' SubClassOf 'leukoencephalopathy with vanishing white matter' - -Class: http://purl.obolibrary.org/obo/MONDO_0007561 -Label(s): multiple epiphyseal dysplasia type 1 -- 'multiple epiphyseal dysplasia type 1' SubClassOf 'multiple epiphyseal dysplasia' -+ 'multiple epiphyseal dysplasia type 1' SubClassOf 'multiple epiphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0011370 -Label(s): Stargardt disease 4 -+ 'Stargardt disease 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040053 - -Class: http://purl.obolibrary.org/obo/MONDO_0001907 -Label(s): adult dermatomyositis -- 'adult dermatomyositis' SubClassOf 'dermatomyositis' -+ 'adult dermatomyositis' SubClassOf 'dermatomyositis' - -Class: http://purl.obolibrary.org/obo/MONDO_0011369 -Label(s): hypercholesterolemia, autosomal dominant, 3 -- 'hypercholesterolemia, autosomal dominant, 3' SubClassOf 'familial hypercholesterolemia' -+ 'hypercholesterolemia, autosomal dominant, 3' SubClassOf 'familial hypercholesterolemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0011346 -Label(s): xanthinuria type II -- 'xanthinuria type II' SubClassOf 'hereditary xanthinuria' -+ 'xanthinuria type II' SubClassOf 'hereditary xanthinuria' - -Class: http://purl.obolibrary.org/obo/MONDO_0011334 -Label(s): limb-mammary syndrome -- 'limb-mammary syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'limb-mammary syndrome' SubClassOf 'ectodermal dysplasia syndrome' ++ 'dementia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dementia' ++ 'dementia' EquivalentTo 'cognitive disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dementia') Class: http://purl.obolibrary.org/obo/MONDO_0016987 Label(s): neuroacanthocytosis - 'neuroacanthocytosis' SubClassOf 'disease has major feature' some 'dementia' -+ 'neuroacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' - -Class: http://www.ebi.ac.uk/efo/EFO_1001110 -Label(s): pituitary-dependent Cushing's disease -- 'pituitary-dependent Cushing's disease' SubClassOf 'Cushing syndrome' -+ 'pituitary-dependent Cushing's disease' SubClassOf 'Cushing syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0015515 -Label(s): carnitine palmitoyltransferase II deficiency -- 'carnitine palmitoyltransferase II deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' -+ 'carnitine palmitoyltransferase II deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' ++ 'neuroacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' Class: http://purl.obolibrary.org/obo/MONDO_0015526 Label(s): cold-induced sweating syndrome - 'cold-induced sweating syndrome' SubClassOf 'disease has major feature' some 'Cold-induced sweating' -+ 'cold-induced sweating syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Cold-induced sweating' - -Class: http://purl.obolibrary.org/obo/MONDO_0011291 -Label(s): ALG6-congenital disorder of glycosylation 1C -- 'ALG6-congenital disorder of glycosylation 1C' SubClassOf 'congenital disorder of glycosylation type I' -+ 'ALG6-congenital disorder of glycosylation 1C' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://www.ebi.ac.uk/efo/EFO_1001444 -Label(s): Tularemia -- 'Tularemia' SubClassOf 'vector-borne disease' -+ 'Tularemia' SubClassOf 'vector-borne disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0011283 -Label(s): mitochondrial DNA depletion syndrome 1 -- 'mitochondrial DNA depletion syndrome 1' SubClassOf 'mitochondrial DNA depletion syndrome' -+ 'mitochondrial DNA depletion syndrome 1' SubClassOf 'mitochondrial DNA depletion syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011269 -Label(s): psoriasis 2 -- 'psoriasis 2' SubClassOf 'psoriasis' -+ 'psoriasis 2' SubClassOf 'psoriasis' - -Class: http://purl.obolibrary.org/obo/MONDO_0011266 -Label(s): myotonic dystrophy type 2 -- 'myotonic dystrophy type 2' SubClassOf 'myotonic dystrophy' -+ 'myotonic dystrophy type 2' SubClassOf 'myotonic dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0011244 -Label(s): Marshall-Smith syndrome -- 'Marshall-Smith syndrome' SubClassOf 'overgrowth syndrome' -+ 'Marshall-Smith syndrome' SubClassOf 'overgrowth syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011231 -Label(s): febrile seizures, familial, 2 -- 'febrile seizures, familial, 2' SubClassOf 'febrile seizures, familial' -+ 'febrile seizures, familial, 2' SubClassOf 'febrile seizures, familial' - -Class: http://purl.obolibrary.org/obo/MONDO_0011214 -Label(s): progressive familial intrahepatic cholestasis type 3 -- 'progressive familial intrahepatic cholestasis type 3' SubClassOf 'progressive familial intrahepatic cholestasis' -+ 'progressive familial intrahepatic cholestasis type 3' SubClassOf 'progressive familial intrahepatic cholestasis' - -Class: http://purl.obolibrary.org/obo/MONDO_0011211 -Label(s): axial spondylometaphyseal dysplasia -- 'axial spondylometaphyseal dysplasia' SubClassOf 'spondylometaphyseal dysplasia' -+ 'axial spondylometaphyseal dysplasia' SubClassOf 'spondylometaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0016825 -Label(s): mitochondrial myopathy-lactic acidosis-deafness syndrome -- 'mitochondrial myopathy-lactic acidosis-deafness syndrome' SubClassOf 'inborn mitochondrial myopathy' -+ 'mitochondrial myopathy-lactic acidosis-deafness syndrome' SubClassOf 'inborn mitochondrial myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0016817 -Label(s): Meier-Gorlin syndrome -- 'Meier-Gorlin syndrome' SubClassOf 'syndromic disease' -+ 'Meier-Gorlin syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0016810 -Label(s): autosomal recessive progressive external ophthalmoplegia -- 'autosomal recessive progressive external ophthalmoplegia' SubClassOf 'progressive external ophthalmoplegia' -+ 'autosomal recessive progressive external ophthalmoplegia' SubClassOf 'progressive external ophthalmoplegia' - -Class: http://purl.obolibrary.org/obo/MONDO_0016802 -Label(s): mitochondrial protein import disorder -- 'mitochondrial protein import disorder' SubClassOf 'mitochondrial membrane transport disorder' -+ 'mitochondrial protein import disorder' SubClassOf 'mitochondrial membrane transport disorder' - -Class: http://purl.obolibrary.org/obo/GO_1901566 -Label(s): organonitrogen compound biosynthetic process -- 'organonitrogen compound biosynthetic process' SubClassOf 'organonitrogen compound metabolic process' -- 'organonitrogen compound biosynthetic process' SubClassOf 'biosynthetic process' -+ 'organonitrogen compound biosynthetic process' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/GO_1901564 -Label(s): organonitrogen compound metabolic process -- 'organonitrogen compound metabolic process' SubClassOf 'metabolic process' -+ 'organonitrogen compound metabolic process' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/MONDO_0010004 -Label(s): EEC syndrome -- 'EEC syndrome' SubClassOf 'syndromic disease' -+ 'EEC syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010026 -Label(s): SHORT syndrome -- 'SHORT syndrome' SubClassOf 'syndromic disease' -- 'SHORT syndrome' SubClassOf 'hereditary lipodystrophy' -+ 'SHORT syndrome' SubClassOf 'syndromic disease' -+ 'SHORT syndrome' SubClassOf 'hereditary lipodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0010239 -Label(s): lissencephaly type 1 due to doublecortin gene mutation -- 'lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'classic lissencephaly' -+ 'lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'classic lissencephaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0008045 -Label(s): spinal muscular atrophy-progressive myoclonic epilepsy syndrome -- 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'spinal muscular atrophy' -- 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'hereditary motor neuron disease' -+ 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'spinal muscular atrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0011197 -Label(s): hereditary thermosensitive neuropathy -- 'hereditary thermosensitive neuropathy' SubClassOf 'hereditary motor and sensory neuropathy' -+ 'hereditary thermosensitive neuropathy' SubClassOf 'hereditary motor and sensory neuropathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0011193 -Label(s): cone dystrophy 3 -- 'cone dystrophy 3' SubClassOf 'cone-rod dystrophy' -+ 'cone dystrophy 3' SubClassOf 'cone-rod dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0011190 -Label(s): nephronophthisis 2 -- 'nephronophthisis 2' SubClassOf 'nephronophthisis' -+ 'nephronophthisis 2' SubClassOf 'nephronophthisis' - -Class: http://purl.obolibrary.org/obo/MONDO_0010068 -Label(s): spondyloepimetaphyseal dysplasia, sponastrime type -- 'spondyloepimetaphyseal dysplasia, sponastrime type' SubClassOf 'spondyloepimetaphyseal dysplasia' -+ 'spondyloepimetaphyseal dysplasia, sponastrime type' SubClassOf 'spondyloepimetaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0021463 -Label(s): benign neoplasm of parathyroid gland -- 'benign neoplasm of parathyroid gland' SubClassOf 'benign endocrine neoplasm' -+ 'benign neoplasm of parathyroid gland' SubClassOf 'benign endocrine neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0011173 -Label(s): thrombocythemia 2 -- 'thrombocythemia 2' SubClassOf 'familial thrombocytosis' -+ 'thrombocythemia 2' SubClassOf 'familial thrombocytosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0011171 -Label(s): odonto-tricho-ungual-digito-palmar syndrome -- 'odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010072 -Label(s): spondyloepiphyseal dysplasia tarda, autosomal recessive -- 'spondyloepiphyseal dysplasia tarda, autosomal recessive' SubClassOf 'spondyloepiphyseal dysplasia tarda' -- 'spondyloepiphyseal dysplasia tarda, autosomal recessive' SubClassOf 'autosomal recessive disease' -+ 'spondyloepiphyseal dysplasia tarda, autosomal recessive' SubClassOf 'spondyloepiphyseal dysplasia tarda' -+ 'spondyloepiphyseal dysplasia tarda, autosomal recessive' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0020712 -Label(s): 46,XY sex reversal 1 -- '46,XY sex reversal 1' SubClassOf '46,XY complete gonadal dysgenesis' -+ '46,XY sex reversal 1' SubClassOf '46,XY complete gonadal dysgenesis' ++ 'cold-induced sweating syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cold-induced sweating' + +Class: http://purl.obolibrary.org/obo/MONDO_1010030 +Label(s): pediatric high-grade glioma +- 'pediatric high-grade glioma' SubClassOf 'malignant glioma' ++ 'pediatric high-grade glioma' SubClassOf 'malignant glioma' Class: http://purl.obolibrary.org/obo/MONDO_0011163 Label(s): malignant hyperthermia, susceptibility to, 5 - 'malignant hyperthermia, susceptibility to, 5' SubClassOf 'predisposes towards' some 'malignant hyperthermia of anesthesia' -+ 'malignant hyperthermia, susceptibility to, 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malignant hyperthermia of anesthesia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008050 -Label(s): MYH7-related skeletal myopathy -- 'MYH7-related skeletal myopathy' SubClassOf 'distal myopathy' -+ 'MYH7-related skeletal myopathy' SubClassOf 'distal myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0010083 -Label(s): succinic semialdehyde dehydrogenase deficiency -- 'succinic semialdehyde dehydrogenase deficiency' SubClassOf 'gamma-amino butyric acid metabolism disorder' -+ 'succinic semialdehyde dehydrogenase deficiency' SubClassOf 'gamma-amino butyric acid metabolism disorder' ++ 'malignant hyperthermia, susceptibility to, 5' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malignant hyperthermia of anesthesia' Class: http://purl.obolibrary.org/obo/MONDO_0020722 Label(s): nephrolithiasis susceptibility caused by SLC26A1 - 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf 'predisposes towards' some 'nephrolithiasis' -+ 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'nephrolithiasis' ++ 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'nephrolithiasis' Class: http://purl.obolibrary.org/obo/MONDO_0011157 Label(s): Gomez-Lopez-Hernandez syndrome - 'Gomez-Lopez-Hernandez syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Gomez-Lopez-Hernandez syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0011156 -Label(s): progressive familial intrahepatic cholestasis type 2 -- 'progressive familial intrahepatic cholestasis type 2' SubClassOf 'progressive familial intrahepatic cholestasis' -+ 'progressive familial intrahepatic cholestasis type 2' SubClassOf 'progressive familial intrahepatic cholestasis' - -Class: http://purl.obolibrary.org/obo/MONDO_0011154 -Label(s): acrofacial dysostosis, Palagonia type -- 'acrofacial dysostosis, Palagonia type' SubClassOf 'acrofacial dysostosis' -+ 'acrofacial dysostosis, Palagonia type' SubClassOf 'acrofacial dysostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0002363 -Label(s): papilloma -- 'papilloma' SubClassOf 'benign epithelial neoplasm' -+ 'papilloma' SubClassOf 'benign epithelial neoplasm' ++ 'Gomez-Lopez-Hernandez syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0011147 Label(s): chromosome 18q deletion syndrome - 'chromosome 18q deletion syndrome' SubClassOf 'disease has major feature' some 'cataract' -+ 'chromosome 18q deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'cataract' - -Class: http://purl.obolibrary.org/obo/MONDO_0011143 -Label(s): cone-rod dystrophy 6 -- 'cone-rod dystrophy 6' SubClassOf 'cone-rod dystrophy' -+ 'cone-rod dystrophy 6' SubClassOf 'cone-rod dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0020746 -Label(s): contractures, pterygia, and variable skeletal fusions syndrome 1B -- 'contractures, pterygia, and variable skeletal fusions syndrome 1B' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' -+ 'contractures, pterygia, and variable skeletal fusions syndrome 1B' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' ++ 'chromosome 18q deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'cataract' Class: http://purl.obolibrary.org/obo/MONDO_0011138 Label(s): systemic lupus erythematosus, susceptibility to, 1 - 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus' -+ 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'systemic lupus erythematosus' - -Class: http://purl.obolibrary.org/obo/MONDO_0011136 -Label(s): Quebec platelet disorder -- 'Quebec platelet disorder' SubClassOf 'alpha granule disease' -- 'Quebec platelet disorder' SubClassOf 'inherited bleeding disorder, platelet-type' -+ 'Quebec platelet disorder' SubClassOf 'alpha granule disease' -+ 'Quebec platelet disorder' SubClassOf 'inherited bleeding disorder, platelet-type' - -Class: http://purl.obolibrary.org/obo/MONDO_0011134 -Label(s): Curry-Jones syndrome -- 'Curry-Jones syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' -+ 'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1030005 - -Class: http://purl.obolibrary.org/obo/MONDO_0011131 -Label(s): tricho-oculo-dermo-vertebral syndrome -- 'tricho-oculo-dermo-vertebral syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'tricho-oculo-dermo-vertebral syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011128 -Label(s): Sheldon-hall syndrome -- 'Sheldon-hall syndrome' SubClassOf 'distal arthrogryposis' -+ 'Sheldon-hall syndrome' SubClassOf 'distal arthrogryposis' - -Class: http://purl.obolibrary.org/obo/MONDO_0011125 -Label(s): trichothiodystrophy 1, photosensitive -- 'trichothiodystrophy 1, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' -+ 'trichothiodystrophy 1, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0011119 -Label(s): iridogoniodysgenesis -- 'iridogoniodysgenesis' SubClassOf 'anterior segment dysgenesis' -+ 'iridogoniodysgenesis' SubClassOf 'anterior segment dysgenesis' - -Class: http://purl.obolibrary.org/obo/MONDO_0008060 -Label(s): nonsyndromic congenital nail disorder 1 -- 'nonsyndromic congenital nail disorder 1' SubClassOf 'inherited isolated nail anomaly' -+ 'nonsyndromic congenital nail disorder 1' SubClassOf 'inherited isolated nail anomaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0007698 -Label(s): hand-foot-genital syndrome -- 'hand-foot-genital syndrome' SubClassOf 'syndromic disease' -+ 'hand-foot-genital syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0016796 -Label(s): mitochondrial DNA depletion syndrome, encephalomyopathic form -- 'mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'mitochondrial DNA depletion syndrome' -+ 'mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'mitochondrial DNA depletion syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0002618 -Label(s): pancreatic carcinoma -- 'pancreatic carcinoma' SubClassOf 'malignant exocrine pancreas neoplasm' -+ 'pancreatic carcinoma' SubClassOf 'malignant exocrine pancreas neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0016761 -Label(s): spondyloepiphyseal dysplasia -- 'spondyloepiphyseal dysplasia' SubClassOf 'osteochondrodysplasia' -+ 'spondyloepiphyseal dysplasia' SubClassOf 'osteochondrodysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0016759 -Label(s): pontocerebellar hypoplasia type 2 -- 'pontocerebellar hypoplasia type 2' SubClassOf 'pontocerebellar hypoplasia' -- 'pontocerebellar hypoplasia type 2' SubClassOf 'hereditary motor neuron disease' -+ 'pontocerebellar hypoplasia type 2' SubClassOf 'pontocerebellar hypoplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0016729 -Label(s): mixed neuronal-glial tumor -- 'mixed neuronal-glial tumor' SubClassOf 'neuroepithelial neoplasm' -+ 'mixed neuronal-glial tumor' SubClassOf 'neuroepithelial neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0016700 -Label(s): anaplastic ependymoma -- 'anaplastic ependymoma' SubClassOf 'anaplastic cancer' -+ 'anaplastic ependymoma' SubClassOf 'anaplastic cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0030856 -Label(s): developmental and epileptic encephalopathy 89 -- 'developmental and epileptic encephalopathy 89' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy 89' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0007938 -Label(s): 46,XY sex reversal 4 -- '46,XY sex reversal 4' SubClassOf '46,XY complete gonadal dysgenesis' -+ '46,XY sex reversal 4' SubClassOf '46,XY complete gonadal dysgenesis' - -Class: http://purl.obolibrary.org/obo/MONDO_0005094 -Label(s): hemangiopericytoma -- 'hemangiopericytoma' SubClassOf 'Hemangiopericytic Neoplasm' -+ 'hemangiopericytoma' SubClassOf 'Hemangiopericytic Neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0012718 -Label(s): hypotonia with lactic acidemia and hyperammonemia -- 'hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0017734 -Label(s): sialidosis -- 'sialidosis' SubClassOf 'oligosaccharidosis' -+ 'sialidosis' SubClassOf 'oligosaccharidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0010130 -Label(s): dihydropyrimidine dehydrogenase deficiency -- 'dihydropyrimidine dehydrogenase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' -+ 'dihydropyrimidine dehydrogenase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0011724 -Label(s): encephalopathy due to GLUT1 deficiency -- 'encephalopathy due to GLUT1 deficiency' SubClassOf 'GLUT1 deficiency syndrome' -+ 'encephalopathy due to GLUT1 deficiency' SubClassOf 'GLUT1 deficiency syndrome' -+ 'encephalopathy due to GLUT1 deficiency' SubClassOf 'glucose transport disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0029145 -Label(s): orofacial cleft 8 -- 'orofacial cleft 8' SubClassOf 'orofacial cleft' -+ 'orofacial cleft 8' SubClassOf 'orofacial cleft' - -Class: http://purl.obolibrary.org/obo/MONDO_0011093 -Label(s): mucopolysaccharidosis type 9 -- 'mucopolysaccharidosis type 9' SubClassOf 'mucopolysaccharidosis' -+ 'mucopolysaccharidosis type 9' SubClassOf 'mucopolysaccharidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0029137 -Label(s): hearing loss, autosomal dominant 74 -- 'hearing loss, autosomal dominant 74' SubClassOf 'autosomal dominant nonsyndromic hearing loss' -+ 'hearing loss, autosomal dominant 74' SubClassOf 'autosomal dominant nonsyndromic hearing loss' - -Class: http://purl.obolibrary.org/obo/MONDO_0029136 -Label(s): muscular dystrophy, limb-girdle, autosomal recessive 23 -- 'muscular dystrophy, limb-girdle, autosomal recessive 23' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' -+ 'muscular dystrophy, limb-girdle, autosomal recessive 23' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0029134 -Label(s): severe combined immunodeficiency due to CARMIL2 deficiency -- 'severe combined immunodeficiency due to CARMIL2 deficiency' SubClassOf 'autosomal recessive disease' -+ 'severe combined immunodeficiency due to CARMIL2 deficiency' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0029133 -Label(s): muscular dystrophy, limb-girdle, autosomal dominant 4 -- 'muscular dystrophy, limb-girdle, autosomal dominant 4' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' -+ 'muscular dystrophy, limb-girdle, autosomal dominant 4' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' - -Class: http://purl.obolibrary.org/obo/MONDO_0011083 -Label(s): trichodental syndrome -- 'trichodental syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'trichodental syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011076 -Label(s): myofibrillar myopathy 1 -- 'myofibrillar myopathy 1' SubClassOf 'qualitative or quantitative defects of desmin' -- 'myofibrillar myopathy 1' SubClassOf 'myofibrillar myopathy' -+ 'myofibrillar myopathy 1' SubClassOf 'qualitative or quantitative defects of desmin' -+ 'myofibrillar myopathy 1' SubClassOf 'myofibrillar myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0010173 -Label(s): Mayer-Rokitansky-Kuster-Hauser syndrome type 1 -- 'Mayer-Rokitansky-Kuster-Hauser syndrome type 1' SubClassOf 'Mayer-Rokitansky-Kuster-Hauser syndrome' -+ 'Mayer-Rokitansky-Kuster-Hauser syndrome type 1' SubClassOf 'Mayer-Rokitansky-Kuster-Hauser syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011063 -Label(s): hidrotic ectodermal dysplasia, Christianson-Fourie type -- 'hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'ectodermal dysplasia syndrome' -+ 'hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0012775 -Label(s): thrombocytopenia 4 -- 'thrombocytopenia 4' SubClassOf 'inherited thrombocytopenia' -+ 'thrombocytopenia 4' SubClassOf 'inherited thrombocytopenia' - -Class: http://purl.obolibrary.org/obo/MONDO_0011045 -Label(s): MMEP syndrome -- 'MMEP syndrome' SubClassOf 'syndromic microphthalmia' -+ 'MMEP syndrome' SubClassOf 'syndromic microphthalmia' - -Class: http://purl.obolibrary.org/obo/MONDO_0020863 -Label(s): laryngeal diphtheria -- 'laryngeal diphtheria' SubClassOf 'diphtheria' -+ 'laryngeal diphtheria' SubClassOf 'diphtheria' - -Class: http://purl.obolibrary.org/obo/MONDO_0012796 -Label(s): retinitis pigmentosa 41 -+ 'retinitis pigmentosa 41' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040052 - -Class: http://purl.obolibrary.org/obo/MONDO_0044877 -Label(s): paraneoplastic cerebellar degeneration -- 'paraneoplastic cerebellar degeneration' SubClassOf 'paraneoplastic neurologic syndrome' -+ 'paraneoplastic cerebellar degeneration' SubClassOf 'paraneoplastic neurologic syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0016692 -Label(s): pilomyxoid astrocytoma -- 'pilomyxoid astrocytoma' SubClassOf 'pilocytic astrocytoma' -+ 'pilomyxoid astrocytoma' SubClassOf 'pilocytic astrocytoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0016675 -Label(s): distal arthrogryposis type 10 -- 'distal arthrogryposis type 10' SubClassOf 'distal arthrogryposis' -+ 'distal arthrogryposis type 10' SubClassOf 'distal arthrogryposis' - -Class: http://purl.obolibrary.org/obo/MONDO_0016660 -Label(s): autosomal recessive primary microcephaly -- 'autosomal recessive primary microcephaly' SubClassOf 'autosomal recessive disease' -- 'autosomal recessive primary microcephaly' SubClassOf 'isolated congenital microcephaly' -+ 'autosomal recessive primary microcephaly' SubClassOf 'autosomal recessive disease' -+ 'autosomal recessive primary microcephaly' SubClassOf 'isolated congenital microcephaly' ++ 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'systemic lupus erythematosus' + +Class: http://purl.obolibrary.org/obo/HP_0001649 +Label(s): Tachycardia +- 'Tachycardia' SubClassOf 'Ventricular arrhythmia' ++ 'Tachycardia' SubClassOf 'Arrhythmia' + +Class: http://www.ebi.ac.uk/efo/EFO_0020050 +Label(s): bile acid measurement +- 'bile acid measurement' SubClassOf 'sterol measurement' ++ 'bile acid measurement' SubClassOf 'lipid measurement' Class: http://www.ebi.ac.uk/efo/EFO_0002509 Label(s): progressive external ophthalmoplegia -- 'progressive external ophthalmoplegia' SubClassOf 'inborn mitochondrial myopathy' -+ 'progressive external ophthalmoplegia' SubClassOf 'inborn mitochondrial myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0005147 -Label(s): type 1 diabetes mellitus -- 'type 1 diabetes mellitus' SubClassOf 'diabetes mellitus' -- 'type 1 diabetes mellitus' SubClassOf 'autoimmune disorder of endocrine system' -+ 'type 1 diabetes mellitus' SubClassOf 'diabetes mellitus' -+ 'type 1 diabetes mellitus' SubClassOf 'autoimmune disorder of endocrine system' - -Class: http://purl.obolibrary.org/obo/MONDO_0005148 -Label(s): type 2 diabetes mellitus -- 'type 2 diabetes mellitus' SubClassOf 'diabetes mellitus' -+ 'type 2 diabetes mellitus' SubClassOf 'diabetes mellitus' - -Class: http://www.ebi.ac.uk/efo/EFO_1001988 -Label(s): Juvenile Polymyositis -- 'Juvenile Polymyositis' SubClassOf 'polymyositis' -+ 'Juvenile Polymyositis' SubClassOf 'polymyositis' - -Class: http://purl.obolibrary.org/obo/MONDO_0016619 -Label(s): autosomal recessive hypohidrotic ectodermal dysplasia -- 'autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' -+ 'autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0016611 -Label(s): lipoblastoma -- 'lipoblastoma' SubClassOf 'benign lipomatous neoplasm' -+ 'lipoblastoma' SubClassOf 'benign lipomatous neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0016605 -Label(s): perinatal lethal hypophosphatasia -- 'perinatal lethal hypophosphatasia' SubClassOf 'hypophosphatasia' -+ 'perinatal lethal hypophosphatasia' SubClassOf 'hypophosphatasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0016602 -Label(s): citrin deficiency -- 'citrin deficiency' SubClassOf 'citrullinemia' -+ 'citrin deficiency' SubClassOf 'citrullinemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0034103 -Label(s): infection-related hemolytic uremic syndrome -- 'infection-related hemolytic uremic syndrome' SubClassOf 'hemolytic-uremic syndrome' -+ 'infection-related hemolytic uremic syndrome' SubClassOf 'hemolytic-uremic syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0012117 -Label(s): ALG9-congenital disorder of glycosylation -- 'ALG9-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'ALG9-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0033361 -Label(s): developmental and epileptic encephalopathy, 52 -- 'developmental and epileptic encephalopathy, 52' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 52' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0002921 -Label(s): congenital structural myopathy -- 'congenital structural myopathy' SubClassOf 'congenital myopathy' -+ 'congenital structural myopathy' SubClassOf 'congenital myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0033371 -Label(s): developmental and epileptic encephalopathy, 62 -- 'developmental and epileptic encephalopathy, 62' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 62' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/GO_0030416 -Label(s): methylamine metabolic process -- 'methylamine metabolic process' SubClassOf 'organonitrogen compound metabolic process' -+ 'methylamine metabolic process' SubClassOf 'metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0010200 -Label(s): Wilson disease -- 'Wilson disease' SubClassOf 'disorder of copper metabolism' -+ 'Wilson disease' SubClassOf 'disorder of copper metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0021639 -Label(s): grade II glioma -- 'grade II glioma' SubClassOf 'low grade glioma' -+ 'grade II glioma' SubClassOf 'low grade glioma' - -Class: http://purl.obolibrary.org/obo/MONDO_0021636 -Label(s): astrocytic tumor -- 'astrocytic tumor' SubClassOf 'glioma' -+ 'astrocytic tumor' SubClassOf 'glioma' - -Class: http://purl.obolibrary.org/obo/MONDO_0021632 -Label(s): primary brain neoplasm -- 'primary brain neoplasm' SubClassOf 'brain neoplasm' -+ 'primary brain neoplasm' SubClassOf 'brain neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0015020 -Label(s): intellectual disability, autosomal recessive 59 -- 'intellectual disability, autosomal recessive 59' SubClassOf 'autosomal recessive non-syndromic intellectual disability' -+ 'intellectual disability, autosomal recessive 59' SubClassOf 'autosomal recessive non-syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0002100 -Label(s): cardiovascular cancer -- 'cardiovascular cancer' SubClassOf 'cancer' -+ 'cardiovascular cancer' SubClassOf 'cancer' - -Class: http://www.ebi.ac.uk/efo/EFO_0002431 -Label(s): tumour of cranial and spinal nerves -- 'tumour of cranial and spinal nerves' SubClassOf 'peripheral nervous system disease' -+ 'tumour of cranial and spinal nerves' SubClassOf 'peripheral nervous system disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0016586 -Label(s): systemic mastocytosis -- 'systemic mastocytosis' SubClassOf 'Mastocytosis' -+ 'systemic mastocytosis' SubClassOf 'Mastocytosis' ++ 'progressive external ophthalmoplegia' SubClassOf 'congenital nervous system disorder' ++ 'progressive external ophthalmoplegia' SubClassOf 'ophthalmoplegia' ++ 'progressive external ophthalmoplegia' SubClassOf 'hereditary neurological disease' + +Class: http://purl.obolibrary.org/obo/OBI_0000922 +Label(s): frozen specimen +- 'frozen specimen' DisjointWith 'fresh specimen' +- 'frozen specimen' DisjointWith 'agar stab specimen' +- 'frozen specimen' DisjointWith 'paraffin specimen' + +Class: http://purl.obolibrary.org/obo/OBI_0000950 +Label(s): paraffin specimen +- 'paraffin specimen' DisjointWith 'fresh specimen' +- 'frozen specimen' DisjointWith 'paraffin specimen' +- 'paraffin specimen' DisjointWith 'agar stab specimen' + +Class: http://purl.obolibrary.org/obo/OBI_0000971 +Label(s): fresh specimen +- 'frozen specimen' DisjointWith 'fresh specimen' +- 'paraffin specimen' DisjointWith 'fresh specimen' +- 'fresh specimen' DisjointWith 'agar stab specimen' Class: http://purl.obolibrary.org/obo/MONDO_0016571 Label(s): macrocephaly-short stature-paraplegia syndrome +- 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'central nervous system malformation' - 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'macrocephaly-short stature-paraplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0016552 -Label(s): congenital primary megaureter, nonrefluxing and unobstructed form -- 'congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'congenital primary megaureter' -+ 'congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'congenital primary megaureter' - -Class: http://purl.obolibrary.org/obo/MONDO_0016551 -Label(s): congenital primary megaureter, refluxing form -- 'congenital primary megaureter, refluxing form' SubClassOf 'congenital primary megaureter' -+ 'congenital primary megaureter, refluxing form' SubClassOf 'congenital primary megaureter' - -Class: http://purl.obolibrary.org/obo/MONDO_0016550 -Label(s): congenital primary megaureter, obstructed form -- 'congenital primary megaureter, obstructed form' SubClassOf 'congenital primary megaureter' -+ 'congenital primary megaureter, obstructed form' SubClassOf 'congenital primary megaureter' - -Class: http://purl.obolibrary.org/obo/MONDO_0044724 -Label(s): 3-methylglutaconic aciduria type 9 -- '3-methylglutaconic aciduria type 9' SubClassOf '3-methylglutaconic aciduria' -+ '3-methylglutaconic aciduria type 9' SubClassOf '3-methylglutaconic aciduria' - -Class: http://purl.obolibrary.org/obo/MONDO_0044723 -Label(s): 3-methylglutaconic aciduria type 8 -- '3-methylglutaconic aciduria type 8' SubClassOf '3-methylglutaconic aciduria' -+ '3-methylglutaconic aciduria type 8' SubClassOf '3-methylglutaconic aciduria' - -Class: http://purl.obolibrary.org/obo/MONDO_0016535 -Label(s): hypohidrotic ectodermal dysplasia -- 'hypohidrotic ectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' -+ 'hypohidrotic ectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0044704 -Label(s): oropharynx squamous cell carcinoma -- 'oropharynx squamous cell carcinoma' SubClassOf 'pharyngeal squamous cell carcinoma' -- 'oropharynx squamous cell carcinoma' SubClassOf 'oropharyngeal carcinoma' -+ 'oropharynx squamous cell carcinoma' SubClassOf 'pharyngeal squamous cell carcinoma' -+ 'oropharynx squamous cell carcinoma' SubClassOf 'oropharyngeal carcinoma' ++ 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'syndromic disease' ++ 'macrocephaly-short stature-paraplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' ++ 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0044701 Label(s): childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder - 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0005277 -Label(s): migraine disorder -- 'migraine disorder' SubClassOf 'brain disease' -+ 'migraine disorder' SubClassOf 'brain disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0016527 -Label(s): glycogen storage disease due to lactate dehydrogenase deficiency -- 'glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'disorder of glycogen metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0016516 -Label(s): Kenny-Caffey syndrome -- 'Kenny-Caffey syndrome' SubClassOf 'syndromic disease' -+ 'Kenny-Caffey syndrome' SubClassOf 'syndromic disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0006544 -Label(s): bladder transitional cell carcinoma -- 'bladder transitional cell carcinoma' SubClassOf 'urothelial carcinoma' -+ 'bladder transitional cell carcinoma' SubClassOf 'urothelial carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0016502 -Label(s): Hermansky-Pudlak syndrome without pulmonary fibrosis -- 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' -+ 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0016501 -Label(s): Hermansky-Pudlak syndrome with pulmonary fibrosis -- 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' -+ 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_1001822 -Label(s): Paroxysmal Hemicrania -- 'Paroxysmal Hemicrania' SubClassOf 'trigeminal autonomic cephalalgia' -+ 'Paroxysmal Hemicrania' SubClassOf 'trigeminal autonomic cephalalgia' - -Class: http://purl.obolibrary.org/obo/MONDO_0030323 -Label(s): spinocerebellar ataxia, autosomal recessive 31 -- 'spinocerebellar ataxia, autosomal recessive 31' SubClassOf 'autosomal recessive cerebellar ataxia' -+ 'spinocerebellar ataxia, autosomal recessive 31' SubClassOf 'autosomal recessive cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010318 -Label(s): FG syndrome 4 -- 'FG syndrome 4' SubClassOf 'fg syndrome' -+ 'FG syndrome 4' SubClassOf 'fg syndrome' ++ 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0021569 Label(s): Emery-Dreifuss muscular dystrophy 2, autosomal dominant - 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf 'disease shares features of' some 'X-linked Emery-Dreifuss muscular dystrophy' -+ 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'X-linked Emery-Dreifuss muscular dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0010333 -Label(s): corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome -- 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'X-linked syndromic intellectual disability' -+ 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'X-linked syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0002996 -Label(s): cavernous sinus meningioma -- 'cavernous sinus meningioma' SubClassOf 'skull base meningioma' -+ 'cavernous sinus meningioma' SubClassOf 'skull base meningioma' - -Class: http://purl.obolibrary.org/obo/MONDO_0021553 -Label(s): transverse myelitis -- 'transverse myelitis' SubClassOf 'Myelitis' -+ 'transverse myelitis' SubClassOf 'Myelitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0021547 -Label(s): amelogenesis imperfecta type 3B -- 'amelogenesis imperfecta type 3B' SubClassOf 'amelogenesis imperfecta' -+ 'amelogenesis imperfecta type 3B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0968955 - -Class: http://purl.obolibrary.org/obo/MONDO_0021510 -Label(s): benign neoplasm of prostate -- 'benign neoplasm of prostate' SubClassOf 'benign male reproductive system neoplasm' -+ 'benign neoplasm of prostate' SubClassOf 'benign male reproductive system neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0021505 -Label(s): benign neoplasm of endocardium -- 'benign neoplasm of endocardium' SubClassOf 'benign neoplasm of heart' -+ 'benign neoplasm of endocardium' SubClassOf 'benign neoplasm of heart' - -Class: http://purl.obolibrary.org/obo/MONDO_0021500 -Label(s): benign neoplasm of spleen -- 'benign neoplasm of spleen' SubClassOf 'spleen neoplasm' -+ 'benign neoplasm of spleen' SubClassOf 'spleen neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0002358 -Label(s): laryngeal carcinoma -- 'laryngeal carcinoma' SubClassOf 'carcinoma' -+ 'laryngeal carcinoma' SubClassOf 'carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0016484 -Label(s): Usher syndrome type 2 -- 'Usher syndrome type 2' SubClassOf 'Usher syndrome' -+ 'Usher syndrome type 2' SubClassOf 'Usher syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0016474 -Label(s): drug-induced lupus erythematosus -- 'drug-induced lupus erythematosus' SubClassOf 'lupus erythematosus' -+ 'drug-induced lupus erythematosus' SubClassOf 'lupus erythematosus' - -Class: http://purl.obolibrary.org/obo/MONDO_0016473 -Label(s): familial rhabdoid tumor -- 'familial rhabdoid tumor' SubClassOf 'hereditary neoplastic syndrome' -+ 'familial rhabdoid tumor' SubClassOf 'hereditary neoplastic syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0016450 -Label(s): autoimmune hemolytic anemia, cold type -- 'autoimmune hemolytic anemia, cold type' SubClassOf 'Anemia, Hemolytic, Autoimmune' -+ 'autoimmune hemolytic anemia, cold type' SubClassOf 'Anemia, Hemolytic, Autoimmune' - -Class: http://purl.obolibrary.org/obo/MONDO_0016446 -Label(s): acquired cutis laxa -- 'acquired cutis laxa' SubClassOf 'cutis laxa' -+ 'acquired cutis laxa' SubClassOf 'cutis laxa' - -Class: http://purl.obolibrary.org/obo/MONDO_0016419 -Label(s): hereditary breast carcinoma -- 'hereditary breast carcinoma' SubClassOf 'breast carcinoma' -+ 'hereditary breast carcinoma' SubClassOf 'breast carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0016410 -Label(s): central congenital hypothyroidism -- 'central congenital hypothyroidism' SubClassOf 'permanent congenital hypothyroidism' -+ 'central congenital hypothyroidism' SubClassOf 'permanent congenital hypothyroidism' - -Class: http://purl.obolibrary.org/obo/MONDO_0003997 -Label(s): colon Kaposi sarcoma -- 'colon Kaposi sarcoma' SubClassOf 'colorectal Kaposi sarcoma' -+ 'colon Kaposi sarcoma' SubClassOf 'colorectal Kaposi sarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0010402 -Label(s): syndromic X-linked intellectual disability 94 -- 'syndromic X-linked intellectual disability 94' SubClassOf 'X-linked syndromic intellectual disability' -+ 'syndromic X-linked intellectual disability 94' SubClassOf 'X-linked syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0021470 -Label(s): benign neoplasm of pancreas -- 'benign neoplasm of pancreas' SubClassOf 'benign digestive system neoplasm' -+ 'benign neoplasm of pancreas' SubClassOf 'benign digestive system neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0003954 -Label(s): angiokeratoma of Fordyce -- 'angiokeratoma of Fordyce' SubClassOf 'angiokeratoma' -+ 'angiokeratoma of Fordyce' SubClassOf 'angiokeratoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0003953 -Label(s): pediatric CNS choriocarcinoma -- 'pediatric CNS choriocarcinoma' SubClassOf 'choriocarcinoma of the central nervous system' -+ 'pediatric CNS choriocarcinoma' SubClassOf 'choriocarcinoma of the central nervous system' - -Class: http://purl.obolibrary.org/obo/MONDO_0021468 -Label(s): benign neoplasm of adrenal medulla -- 'benign neoplasm of adrenal medulla' SubClassOf 'benign neoplasm of adrenal gland' -+ 'benign neoplasm of adrenal medulla' SubClassOf 'benign neoplasm of adrenal gland' - -Class: http://purl.obolibrary.org/obo/MONDO_0003947 -Label(s): hyper-IgM syndrome -- 'hyper-IgM syndrome' SubClassOf 'hyperimmunoglobulin syndrome' -+ 'hyper-IgM syndrome' SubClassOf 'hyperimmunoglobulin syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011829 -Label(s): coenzyme Q10 deficiency, primary, 1 -- 'coenzyme Q10 deficiency, primary, 1' SubClassOf 'coenzyme Q10 deficiency' -+ 'coenzyme Q10 deficiency, primary, 1' SubClassOf 'coenzyme Q10 deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0003939 -Label(s): muscle tissue disorder -- 'muscle tissue disorder' SubClassOf 'musculoskeletal system disease' -+ 'muscle tissue disorder' SubClassOf 'musculoskeletal system disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007850 -Label(s): autosomal dominant keratitis-ichthyosis-hearing loss syndrome -- 'autosomal dominant keratitis-ichthyosis-hearing loss syndrome' SubClassOf 'KID syndrome' -- 'autosomal dominant keratitis-ichthyosis-hearing loss syndrome' SubClassOf 'autosomal dominant disease' -+ 'autosomal dominant keratitis-ichthyosis-hearing loss syndrome' SubClassOf 'KID syndrome' -+ 'autosomal dominant keratitis-ichthyosis-hearing loss syndrome' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0021447 -Label(s): benign neoplasm of testis -- 'benign neoplasm of testis' SubClassOf 'benign male reproductive system neoplasm' -+ 'benign neoplasm of testis' SubClassOf 'benign male reproductive system neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0021443 -Label(s): benign neoplasm of lymph node -- 'benign neoplasm of lymph node' SubClassOf 'immune system organ benign neoplasm' -- 'benign neoplasm of lymph node' SubClassOf 'lymph node neoplasm' -+ 'benign neoplasm of lymph node' SubClassOf 'immune system organ benign neoplasm' -+ 'benign neoplasm of lymph node' SubClassOf 'lymph node neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0021439 -Label(s): benign neoplasm of pituitary gland -- 'benign neoplasm of pituitary gland' SubClassOf 'benign endocrine neoplasm' -- 'benign neoplasm of pituitary gland' SubClassOf 'pituitary tumor' -+ 'benign neoplasm of pituitary gland' SubClassOf 'benign endocrine neoplasm' -+ 'benign neoplasm of pituitary gland' SubClassOf 'pituitary tumor' - -Class: http://purl.obolibrary.org/obo/MONDO_0003909 -Label(s): Bartholin gland adenomyoma -- 'Bartholin gland adenomyoma' SubClassOf 'benign epithelial neoplasm' -- 'Bartholin gland adenomyoma' SubClassOf 'Bartholin gland benign neoplasm' -+ 'Bartholin gland adenomyoma' SubClassOf 'benign epithelial neoplasm' -+ 'Bartholin gland adenomyoma' SubClassOf 'Bartholin gland benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0002201 -Label(s): vulvar trichoepithelioma -- 'vulvar trichoepithelioma' SubClassOf 'trichoblastoma' -+ 'vulvar trichoepithelioma' SubClassOf 'trichoblastoma' ++ 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'X-linked Emery-Dreifuss muscular dystrophy' Class: http://purl.obolibrary.org/obo/MONDO_0002203 Label(s): constipation disorder - 'constipation disorder' SubClassOf 'disease has major feature' some 'Constipation' - 'constipation disorder' EquivalentTo 'disease' and ('disease has major feature' some 'Constipation') -+ 'constipation disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Constipation') -+ 'constipation disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Constipation' - -Class: http://purl.obolibrary.org/obo/MONDO_0016396 -Label(s): pontocerebellar hypoplasia type 1 -- 'pontocerebellar hypoplasia type 1' SubClassOf 'pontocerebellar hypoplasia' -- 'pontocerebellar hypoplasia type 1' SubClassOf 'hereditary motor neuron disease' -+ 'pontocerebellar hypoplasia type 1' SubClassOf 'pontocerebellar hypoplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0016394 -Label(s): sporadic infantile bilateral striatal necrosis -- 'sporadic infantile bilateral striatal necrosis' SubClassOf 'infantile bilateral striatal necrosis' -+ 'sporadic infantile bilateral striatal necrosis' SubClassOf 'infantile bilateral striatal necrosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0016391 -Label(s): neonatal diabetes mellitus -- 'neonatal diabetes mellitus' SubClassOf 'monogenic diabetes' -+ 'neonatal diabetes mellitus' SubClassOf 'monogenic diabetes' - -Class: http://purl.obolibrary.org/obo/MONDO_0016381 -Label(s): hypertrichosis lanuginosa congenita -- 'hypertrichosis lanuginosa congenita' SubClassOf 'ectodermal dysplasia syndrome' -+ 'hypertrichosis lanuginosa congenita' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0016369 -Label(s): Rothmund-Thomson syndrome type 2 -- 'Rothmund-Thomson syndrome type 2' SubClassOf 'Rothmund-Thomson syndrome' -+ 'Rothmund-Thomson syndrome type 2' SubClassOf 'Rothmund-Thomson syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0016368 -Label(s): Rothmund-Thomson syndrome type 1 -- 'Rothmund-Thomson syndrome type 1' SubClassOf 'Rothmund-Thomson syndrome' -+ 'Rothmund-Thomson syndrome type 1' SubClassOf 'Rothmund-Thomson syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0016366 -Label(s): maternal phenylketonuria -- 'maternal phenylketonuria' SubClassOf 'phenylketonuria' -+ 'maternal phenylketonuria' SubClassOf 'phenylketonuria' - -Class: http://purl.obolibrary.org/obo/MONDO_0016365 -Label(s): familial primary hyperparathyroidism -- 'familial primary hyperparathyroidism' SubClassOf 'primary hyperparathyroidism' -+ 'familial primary hyperparathyroidism' SubClassOf 'primary hyperparathyroidism' ++ 'constipation disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Constipation' ++ 'constipation disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Constipation') Class: http://purl.obolibrary.org/obo/MONDO_0016364 Label(s): Joubert syndrome with ocular defect - 'Joubert syndrome with ocular defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' ++ 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0016354 Label(s): xeroderma pigmentosum-Cockayne syndrome complex - 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease shares features of' some 'xeroderma pigmentosum' - 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease shares features of' some 'Cockayne syndrome' -+ 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Cockayne syndrome' -+ 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'xeroderma pigmentosum' - -Class: http://purl.obolibrary.org/obo/MONDO_0016338 -Label(s): non-familial dilated cardiomyopathy -- 'non-familial dilated cardiomyopathy' SubClassOf 'dilated cardiomyopathy' -+ 'non-familial dilated cardiomyopathy' SubClassOf 'dilated cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0016310 -Label(s): Niemann-Pick disease type C, adult neurologic onset -- 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'Niemann-Pick disease type C' -+ 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'Niemann-Pick disease type C' - -Class: http://purl.obolibrary.org/obo/MONDO_0016307 -Label(s): Niemann-Pick disease type C, severe early infantile neurologic onset -- 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' -+ 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' - -Class: http://purl.obolibrary.org/obo/MONDO_0013034 -Label(s): keratosis palmoplantaris striata 2 -- 'keratosis palmoplantaris striata 2' SubClassOf 'striate palmoplantar keratoderma' -+ 'keratosis palmoplantaris striata 2' SubClassOf 'striate palmoplantar keratoderma' - -Class: http://purl.obolibrary.org/obo/MONDO_0013038 -Label(s): CLOVES syndrome -+ 'CLOVES syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040002 - -Class: http://purl.obolibrary.org/obo/MONDO_0003890 -Label(s): infiltrating bladder urothelial carcinoma -- 'infiltrating bladder urothelial carcinoma' SubClassOf 'infiltrating urothelial carcinoma' -+ 'infiltrating bladder urothelial carcinoma' SubClassOf 'infiltrating urothelial carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0010512 -Label(s): intellectual disability, X-linked, syndromic, Bain type -- 'intellectual disability, X-linked, syndromic, Bain type' SubClassOf 'X-linked syndromic intellectual disability' -+ 'intellectual disability, X-linked, syndromic, Bain type' SubClassOf 'X-linked syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0010520 -Label(s): X-linked Alport syndrome -- 'X-linked Alport syndrome' SubClassOf 'Alport syndrome' -+ 'X-linked Alport syndrome' SubClassOf 'Alport syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0003033 -Label(s): bacteriemia -- 'bacteriemia' SubClassOf 'bacterial disease' -+ 'bacteriemia' SubClassOf 'bacterial disease' -+ 'bacteriemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040015 - -Class: http://purl.obolibrary.org/obo/MONDO_0003846 -Label(s): viral esophagitis -- 'viral esophagitis' SubClassOf 'viral disease' -+ 'viral esophagitis' SubClassOf 'viral disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010543 -Label(s): Barth syndrome -- 'Barth syndrome' SubClassOf '3-methylglutaconic aciduria' -+ 'Barth syndrome' SubClassOf '3-methylglutaconic aciduria' - -Class: http://purl.obolibrary.org/obo/MONDO_0021355 -Label(s): neoplasm of esophagus -- 'neoplasm of esophagus' SubClassOf 'esophageal disease' -+ 'neoplasm of esophagus' SubClassOf 'esophageal disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0021348 -Label(s): neoplasm of testis -- 'neoplasm of testis' SubClassOf 'male reproductive system neoplasm' -+ 'neoplasm of testis' SubClassOf 'male reproductive system neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0003825 -Label(s): kidney oncocytoma -- 'kidney oncocytoma' SubClassOf 'benign epithelial neoplasm' -+ 'kidney oncocytoma' SubClassOf 'benign epithelial neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0013061 -Label(s): myofibrillar myopathy 6 -- 'myofibrillar myopathy 6' SubClassOf 'myofibrillar myopathy' -+ 'myofibrillar myopathy 6' SubClassOf 'myofibrillar myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0021337 -Label(s): tonsil carcinoma -- 'tonsil carcinoma' SubClassOf 'oropharyngeal carcinoma' -+ 'tonsil carcinoma' SubClassOf 'oropharyngeal carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0013066 -Label(s): 46,XY sex reversal 3 -- '46,XY sex reversal 3' SubClassOf '46,XY complete gonadal dysgenesis' -+ '46,XY sex reversal 3' SubClassOf '46,XY complete gonadal dysgenesis' - -Class: http://purl.obolibrary.org/obo/MONDO_0021316 -Label(s): malignant tumor of minor salivary gland -- 'malignant tumor of minor salivary gland' SubClassOf 'salivary gland cancer' -+ 'malignant tumor of minor salivary gland' SubClassOf 'salivary gland cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0021315 -Label(s): malignant tumor of nasopharynx -- 'malignant tumor of nasopharynx' SubClassOf 'pharynx cancer' -+ 'malignant tumor of nasopharynx' SubClassOf 'pharynx cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0021312 -Label(s): malignant tumor of adrenal cortex -- 'malignant tumor of adrenal cortex' SubClassOf 'adrenal cortex neoplasm' -+ 'malignant tumor of adrenal cortex' SubClassOf 'adrenal cortex neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0021300 -Label(s): adenoid cystic carcinoma of oropharynx -- 'adenoid cystic carcinoma of oropharynx' SubClassOf 'oropharyngeal carcinoma' -+ 'adenoid cystic carcinoma of oropharynx' SubClassOf 'oropharyngeal carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0016298 -Label(s): postlingual non-syndromic genetic hearing loss -+ 'prelingual non-syndromic genetic hearing loss' DisjointWith 'postlingual non-syndromic genetic hearing loss' - -Class: http://purl.obolibrary.org/obo/MONDO_0016297 -Label(s): prelingual non-syndromic genetic hearing loss -+ 'prelingual non-syndromic genetic hearing loss' DisjointWith 'postlingual non-syndromic genetic hearing loss' - -Class: http://purl.obolibrary.org/obo/MONDO_0016296 -Label(s): holoprosencephaly -- 'holoprosencephaly' SubClassOf 'syndromic disease' -+ 'holoprosencephaly' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0016293 -Label(s): congenital stationary night blindness -- 'congenital stationary night blindness' SubClassOf 'hereditary night blindness' -+ 'congenital stationary night blindness' SubClassOf 'hereditary neurological disease' -+ 'congenital stationary night blindness' SubClassOf 'night blindness' - -Class: http://purl.obolibrary.org/obo/MONDO_0016283 -Label(s): leiomyosarcoma of the cervix uteri -- 'leiomyosarcoma of the cervix uteri' SubClassOf 'leiomyosarcoma' -+ 'leiomyosarcoma of the cervix uteri' SubClassOf 'leiomyosarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0011026 -Label(s): autosomal recessive congenital ichthyosis 4A -- 'autosomal recessive congenital ichthyosis 4A' SubClassOf 'autosomal recessive congenital ichthyosis' -+ 'autosomal recessive congenital ichthyosis 4A' SubClassOf 'autosomal recessive congenital ichthyosis' - -Class: http://www.ebi.ac.uk/efo/EFO_0006803 -Label(s): vasculitis -- 'vasculitis' SubClassOf 'vascular disease' -+ 'vasculitis' SubClassOf 'vascular disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0016209 -Label(s): benign familial nocturnal alternating hemiplegia of childhood -- 'benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'alternating hemiplegia' -+ 'benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'alternating hemiplegia' - -Class: http://purl.obolibrary.org/obo/GO_0006768 -Label(s): biotin metabolic process -- 'biotin metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://www.ebi.ac.uk/efo/EFO_0001361 -Label(s): pulmonary arterial hypertension -- 'pulmonary arterial hypertension' SubClassOf 'pulmonary hypertension' -+ 'pulmonary arterial hypertension' SubClassOf 'pulmonary hypertension' - -Class: http://purl.obolibrary.org/obo/MONDO_0003796 -Label(s): rectum Kaposi sarcoma -- 'rectum Kaposi sarcoma' SubClassOf 'colorectal Kaposi sarcoma' -+ 'rectum Kaposi sarcoma' SubClassOf 'colorectal Kaposi sarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0858921 -Label(s): EWSR1-negative small round cell tumor -- 'EWSR1-negative small round cell tumor' SubClassOf 'small cell sarcoma' -+ 'EWSR1-negative small round cell tumor' SubClassOf 'small cell sarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0021289 -Label(s): carcinoma in situ of cecum -- 'carcinoma in situ of cecum' SubClassOf 'colon carcinoma in situ' -+ 'carcinoma in situ of cecum' SubClassOf 'colon carcinoma in situ' - -Class: http://purl.obolibrary.org/obo/MONDO_0021283 -Label(s): malignant teratoma of mediastinum -- 'malignant teratoma of mediastinum' SubClassOf 'mediastinum teratoma' -+ 'malignant teratoma of mediastinum' SubClassOf 'mediastinum teratoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0021273 -Label(s): leiomyoma of ciliary body -- 'leiomyoma of ciliary body' SubClassOf 'benign neoplasm of ciliary body' -+ 'leiomyoma of ciliary body' SubClassOf 'benign neoplasm of ciliary body' - -Class: http://purl.obolibrary.org/obo/MONDO_0003758 -Label(s): childhood testicular germ cell tumor -- 'childhood testicular germ cell tumor' SubClassOf 'childhood testicular neoplasm' -- 'childhood testicular germ cell tumor' SubClassOf 'childhood gonadal germ cell tumor' -+ 'childhood testicular germ cell tumor' SubClassOf 'childhood testicular neoplasm' -+ 'childhood testicular germ cell tumor' SubClassOf 'childhood gonadal germ cell tumor' - -Class: http://purl.obolibrary.org/obo/MONDO_0010632 -Label(s): developmental and epileptic encephalopathy, 1 -- 'developmental and epileptic encephalopathy, 1' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 1' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0003745 -Label(s): choroid spindle cell melanoma -- 'choroid spindle cell melanoma' SubClassOf 'spindle cell intraocular melanoma' -+ 'choroid spindle cell melanoma' SubClassOf 'spindle cell intraocular melanoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0010645 -Label(s): oculocerebrorenal syndrome -- 'oculocerebrorenal syndrome' SubClassOf 'syndromic disease' -+ 'oculocerebrorenal syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0021251 -Label(s): endometrium neoplasm -- 'endometrium neoplasm' SubClassOf 'endometrial disorder' -+ 'endometrium neoplasm' SubClassOf 'endometrial disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0003734 -Label(s): adult central nervous system immature teratoma -- 'adult central nervous system immature teratoma' SubClassOf 'central nervous system immature teratoma' -+ 'adult central nervous system immature teratoma' SubClassOf 'central nervous system immature teratoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0018037 -Label(s): hyper-IgE syndrome -- 'hyper-IgE syndrome' SubClassOf 'hyperimmunoglobulin syndrome' -+ 'hyper-IgE syndrome' SubClassOf 'hyperimmunoglobulin syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0021235 -Label(s): external ear neoplasm -- 'external ear neoplasm' SubClassOf 'external ear disease' -+ 'external ear neoplasm' SubClassOf 'external ear disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0021230 -Label(s): uterine cervix neoplasm -- 'uterine cervix neoplasm' SubClassOf 'cervix disorder' -+ 'uterine cervix neoplasm' SubClassOf 'cervix disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0021224 -Label(s): iris neoplasm -- 'iris neoplasm' SubClassOf 'iris disorder' -+ 'iris neoplasm' SubClassOf 'iris disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0003704 -Label(s): uterine corpus diffuse leiomyomatosis -- 'uterine corpus diffuse leiomyomatosis' SubClassOf 'uterine fibroid' -+ 'uterine corpus diffuse leiomyomatosis' SubClassOf 'uterine fibroid' - -Class: http://purl.obolibrary.org/obo/MONDO_0021204 -Label(s): chronic otitis media -- 'chronic otitis media' SubClassOf 'Otitis media' -+ 'chronic otitis media' SubClassOf 'Otitis media' - -Class: http://www.ebi.ac.uk/efo/EFO_0003860 -Label(s): pancreatic neoplasm -- 'pancreatic neoplasm' SubClassOf 'pancreas disease' -- 'pancreatic neoplasm' SubClassOf 'digestive system neoplasm' -+ 'pancreatic neoplasm' SubClassOf 'pancreas disease' -+ 'pancreatic neoplasm' SubClassOf 'digestive system neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0002320 -Label(s): congenital nervous system disorder -- 'congenital nervous system disorder' SubClassOf 'nervous system disease' -+ 'congenital nervous system disorder' SubClassOf 'nervous system disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0044327 -Label(s): polycystic liver disease 4 with or without kidney cysts -- 'polycystic liver disease 4 with or without kidney cysts' SubClassOf 'autosomal dominant polycystic liver disease' -+ 'polycystic liver disease 4 with or without kidney cysts' SubClassOf 'autosomal dominant polycystic liver disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1001496 -Label(s): Autosomal dominant polycystic kidney disease -- 'Autosomal dominant polycystic kidney disease' SubClassOf 'Polycystic Kidney Disease' -+ 'Autosomal dominant polycystic kidney disease' SubClassOf 'Polycystic Kidney Disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0044313 -Label(s): intellectual disability, autosomal recessive 60 -- 'intellectual disability, autosomal recessive 60' SubClassOf 'autosomal recessive non-syndromic intellectual disability' -+ 'intellectual disability, autosomal recessive 60' SubClassOf 'autosomal recessive non-syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0044300 -Label(s): familial adenomatous polyposis 4 -- 'familial adenomatous polyposis 4' SubClassOf 'classic familial adenomatous polyposis' -+ 'familial adenomatous polyposis 4' SubClassOf 'classic familial adenomatous polyposis' - -Class: http://www.ebi.ac.uk/efo/EFO_1001473 -Label(s): Non-familial restrictive cardiomyopathy -- 'Non-familial restrictive cardiomyopathy' SubClassOf 'restrictive cardiomyopathy' -+ 'Non-familial restrictive cardiomyopathy' SubClassOf 'restrictive cardiomyopathy' ++ 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Cockayne syndrome' ++ 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'xeroderma pigmentosum' + +Class: http://purl.obolibrary.org/obo/MONDO_0021313 +Label(s): eyelid cancer +- 'eyelid cancer' SubClassOf 'eyelid neoplasm' ++ 'eyelid cancer' SubClassOf 'palpebral epidermal tumor' + +Class: http://purl.obolibrary.org/obo/MONDO_0044326 +Label(s): developmental delay and seizures with or without movement abnormalities +- 'developmental delay and seizures with or without movement abnormalities' SubClassOf 'Neurodevelopmental disorder' ++ 'developmental delay and seizures with or without movement abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_1010097 ++ 'developmental delay and seizures with or without movement abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0044318 +Label(s): intellectual developmental disorder with gastrointestinal difficulties and high pain threshold +- 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'Neurodevelopmental disorder' ++ 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'Mendelian neurodevelopmental disorder' Class: http://www.ebi.ac.uk/efo/EFO_1001467 Label(s): Hypereosinophilic syndrome - 'Hypereosinophilic syndrome' SubClassOf 'disease has major feature' some 'Eosinophilia' - 'Hypereosinophilic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'Eosinophilia') -+ 'Hypereosinophilic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Eosinophilia') -+ 'Hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Eosinophilia' - -Class: http://www.ebi.ac.uk/efo/EFO_1001442 -Label(s): cardiac tuberculosis -- 'cardiac tuberculosis' SubClassOf 'heart disease' -+ 'cardiac tuberculosis' SubClassOf 'heart disease' ++ 'Hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Eosinophilia' ++ 'Hypereosinophilic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Eosinophilia') -Class: http://www.ebi.ac.uk/efo/EFO_1001437 -Label(s): Tracheal neoplasm -- 'Tracheal neoplasm' SubClassOf 'respiratory system neoplasm' -+ 'Tracheal neoplasm' SubClassOf 'respiratory system neoplasm' +Class: http://www.ebi.ac.uk/efo/EFO_1001422 +Label(s): Sertoli Cell-Only Syndrome +- 'Sertoli Cell-Only Syndrome' SubClassOf 'azoospermia' ++ 'Sertoli Cell-Only Syndrome' SubClassOf 'male reproductive system disease' Class: http://www.ebi.ac.uk/efo/EFO_1001402 Label(s): postencephalitic Parkinson disease - 'postencephalitic Parkinson disease' SubClassOf 'disease has major feature' some 'dementia' -+ 'postencephalitic Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' - -Class: http://purl.obolibrary.org/obo/MONDO_0003698 -Label(s): penis verrucous carcinoma -- 'penis verrucous carcinoma' SubClassOf 'papillary carcinoma of the penis' -+ 'penis verrucous carcinoma' SubClassOf 'papillary carcinoma of the penis' - -Class: http://purl.obolibrary.org/obo/MONDO_0003685 -Label(s): retroperitoneal germ cell neoplasm -- 'retroperitoneal germ cell neoplasm' SubClassOf 'retroperitoneal neoplasm' -+ 'retroperitoneal germ cell neoplasm' SubClassOf 'retroperitoneal neoplasm' ++ 'postencephalitic Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' Class: http://purl.obolibrary.org/obo/MONDO_0000065 Label(s): microvascular complications of diabetes, susceptibility - 'microvascular complications of diabetes, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'diabetic retinopathy') - 'microvascular complications of diabetes, susceptibility' SubClassOf 'predisposes towards' some 'diabetic retinopathy' -+ 'microvascular complications of diabetes, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'diabetic retinopathy' -+ 'microvascular complications of diabetes, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'diabetic retinopathy') ++ 'microvascular complications of diabetes, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'diabetic retinopathy') ++ 'microvascular complications of diabetes, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'diabetic retinopathy' Class: http://purl.obolibrary.org/obo/MONDO_0021187 Label(s): hyperlipidemia - 'hyperlipidemia' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Hyperlipidemia') - 'hyperlipidemia' SubClassOf 'disease has major feature' some 'Hyperlipidemia' -+ 'hyperlipidemia' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperlipidemia') -+ 'hyperlipidemia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperlipidemia' - -Class: http://www.ebi.ac.uk/efo/EFO_0001357 -Label(s): sporadic amyotrophic lateral sclerosis -- 'sporadic amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' -+ 'sporadic amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0010738 -Label(s): spondylometaphyseal dysplasia, Golden type -- 'spondylometaphyseal dysplasia, Golden type' SubClassOf 'spondylometaphyseal dysplasia' -+ 'spondylometaphyseal dysplasia, Golden type' SubClassOf 'spondylometaphyseal dysplasia' - -Class: http://www.ebi.ac.uk/efo/EFO_1001834 -Label(s): pulmonary aspergillosis -- 'pulmonary aspergillosis' SubClassOf 'aspergillosis' -+ 'pulmonary aspergillosis' SubClassOf 'aspergillosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0003636 -Label(s): vulvar sebaceous carcinoma -- 'vulvar sebaceous carcinoma' SubClassOf 'vulvar adenocarcinoma' -+ 'vulvar sebaceous carcinoma' SubClassOf 'vulvar adenocarcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0018149 -Label(s): GM1 gangliosidosis -- 'GM1 gangliosidosis' SubClassOf 'gangliosidosis' -+ 'GM1 gangliosidosis' SubClassOf 'gangliosidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0021136 -Label(s): rare -- 'rare' SubClassOf 'rare or common' - -Class: http://purl.obolibrary.org/obo/MONDO_0021135 -Label(s): rare or common -- 'rare or common' SubClassOf 'disease characteristic' - -Class: http://purl.obolibrary.org/obo/MONDO_0021117 -Label(s): lung neoplasm -- 'lung neoplasm' SubClassOf 'respiratory system neoplasm' -+ 'lung neoplasm' SubClassOf 'respiratory system neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0800046 -Label(s): thyroid hormone metabolism, abnormal 1 -- 'thyroid hormone metabolism, abnormal 1' SubClassOf 'thyroid hormone metabolism, abnormal' -+ 'thyroid hormone metabolism, abnormal 1' SubClassOf 'thyroid hormone metabolism, abnormal' - -Class: http://purl.obolibrary.org/obo/MONDO_0021109 -Label(s): inverted urothelial papilloma -- 'inverted urothelial papilloma' SubClassOf 'inverted transitional cell papilloma' -+ 'inverted urothelial papilloma' SubClassOf 'inverted transitional cell papilloma' - -Class: http://purl.obolibrary.org/obo/MONDO_0021107 -Label(s): narcolepsy -- 'narcolepsy' SubClassOf 'sleep-wake disorder' -+ 'narcolepsy' SubClassOf 'sleep-wake disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0016095 -Label(s): vaginal rhabdomyosarcoma -- 'vaginal rhabdomyosarcoma' SubClassOf 'vagina sarcoma' -+ 'vaginal rhabdomyosarcoma' SubClassOf 'vagina sarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0016091 -Label(s): adult Krabbe disease -- 'adult Krabbe disease' SubClassOf 'Krabbe disease' -+ 'adult Krabbe disease' SubClassOf 'Krabbe disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0016089 -Label(s): infantile Krabbe disease -- 'infantile Krabbe disease' SubClassOf 'Krabbe disease' -+ 'infantile Krabbe disease' SubClassOf 'Krabbe disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0016088 -Label(s): hypoxanthine-guanine phosphoribosyltransferase deficiency -- 'hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'inborn disorder of purine metabolism' -+ 'hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'inborn disorder of purine metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0016073 -Label(s): syndromic microphthalmia -- 'syndromic microphthalmia' SubClassOf 'microphthalmia' -+ 'syndromic microphthalmia' SubClassOf 'microphthalmia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012534 -Label(s): combined oxidative phosphorylation defect type 4 -- 'combined oxidative phosphorylation defect type 4' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation defect type 4' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0054835 -Label(s): classic dopamine transporter deficiency syndrome -- 'classic dopamine transporter deficiency syndrome' SubClassOf 'SLC6A3-related dopamine transporter deficiency syndrome' -+ 'classic dopamine transporter deficiency syndrome' SubClassOf 'SLC6A3-related dopamine transporter deficiency syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_1001379 -Label(s): neuroleptic malignant syndrome -- 'neuroleptic malignant syndrome' SubClassOf 'nervous system disease' -+ 'neuroleptic malignant syndrome' SubClassOf 'nervous system disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0016002 -Label(s): Ehlers-Danlos syndrome, kyphoscoliotic type 1 -- 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'autosomal recessive disease' -- 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'Ehlers-Danlos syndrome' -+ 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'autosomal recessive disease' -+ 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'Ehlers-Danlos syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0007541 -Label(s): viral pneumonia -- 'viral pneumonia' SubClassOf 'pneumonia' -+ 'viral pneumonia' SubClassOf 'pneumonia' - -Class: http://www.ebi.ac.uk/efo/EFO_1001339 -Label(s): Heart neoplasm -- 'Heart neoplasm' SubClassOf 'cardiovascular neoplasm' -+ 'Heart neoplasm' SubClassOf 'cardiovascular neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_0007519 -Label(s): trench fever -- 'trench fever' SubClassOf 'bartonellosis' -+ 'trench fever' SubClassOf 'bartonellosis' - -Class: http://www.ebi.ac.uk/efo/EFO_0007503 -Label(s): suppurative otitis media -- 'suppurative otitis media' SubClassOf 'Otitis media' -+ 'suppurative otitis media' SubClassOf 'Otitis media' - -Class: http://purl.obolibrary.org/obo/MONDO_0007219 -Label(s): Osebold-Remondini syndrome -- 'Osebold-Remondini syndrome' SubClassOf 'acromesomelic dysplasia' -- 'Osebold-Remondini syndrome' SubClassOf 'brachydactyly' -+ 'Osebold-Remondini syndrome' SubClassOf 'acromesomelic dysplasia' -+ 'Osebold-Remondini syndrome' SubClassOf 'brachydactyly' ++ 'hyperlipidemia' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipidemia') ++ 'hyperlipidemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipidemia' + +Class: http://purl.obolibrary.org/obo/MONDO_0016022 +Label(s): early myoclonic encephalopathy +- 'early myoclonic encephalopathy' SubClassOf 'mitochondrial substrate carrier disorder' +- 'early myoclonic encephalopathy' SubClassOf 'hereditary neurological disease' Class: http://purl.obolibrary.org/obo/MONDO_0000152 Label(s): thiamine-responsive dysfunction syndrome - 'thiamine-responsive dysfunction syndrome' SubClassOf 'disease responds to' some 'vitamin B1' -+ 'thiamine-responsive dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'vitamin B1' - -Class: http://purl.obolibrary.org/obo/MONDO_0021097 -Label(s): intraductal breast papilloma -- 'intraductal breast papilloma' SubClassOf 'breast benign neoplasm' -+ 'intraductal breast papilloma' SubClassOf 'breast benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0003574 -Label(s): external ear cancer -- 'external ear cancer' SubClassOf 'malignant ear neoplasm' -+ 'external ear cancer' SubClassOf 'malignant ear neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0000172 -Label(s): muscular dystrophy-dystroglycanopathy, type B -- 'muscular dystrophy-dystroglycanopathy, type B' SubClassOf 'muscular dystrophy-dystroglycanopathy' -+ 'muscular dystrophy-dystroglycanopathy, type B' SubClassOf 'muscular dystrophy-dystroglycanopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0021086 -Label(s): gingival neoplasm -- 'gingival neoplasm' SubClassOf 'gingival disease' -+ 'gingival neoplasm' SubClassOf 'gingival disease' - -Class: http://purl.obolibrary.org/obo/GO_0006601 -Label(s): creatine biosynthetic process -- 'creatine biosynthetic process' SubClassOf 'organonitrogen compound biosynthetic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0021069 -Label(s): malignant endocrine neoplasm -- 'malignant endocrine neoplasm' SubClassOf 'cancer' -+ 'malignant endocrine neoplasm' SubClassOf 'cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0021066 -Label(s): urinary system neoplasm -- 'urinary system neoplasm' SubClassOf 'urinary system disease' -+ 'urinary system neoplasm' SubClassOf 'urinary system disease' ++ 'thiamine-responsive dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'vitamin B1' + +Class: http://purl.obolibrary.org/obo/MONDO_0021081 +Label(s): anti-NMDA receptor encephalitis +- 'anti-NMDA receptor encephalitis' SubClassOf 'antibody mediated epilepsy' Class: http://purl.obolibrary.org/obo/MONDO_0021058 Label(s): neoplastic syndrome - 'neoplastic syndrome' SubClassOf 'disease has major feature' some 'neoplasm' - 'neoplastic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'neoplasm') -+ 'neoplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'neoplasm' -+ 'neoplastic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'neoplasm') - -Class: http://purl.obolibrary.org/obo/MONDO_0021056 -Label(s): familial adenomatous polyposis 1 -- 'familial adenomatous polyposis 1' SubClassOf 'classic familial adenomatous polyposis' -+ 'familial adenomatous polyposis 1' SubClassOf 'classic familial adenomatous polyposis' - -Class: http://purl.obolibrary.org/obo/MONDO_0021054 -Label(s): bone sarcoma -- 'bone sarcoma' SubClassOf 'Malignant Bone Neoplasm' -+ 'bone sarcoma' SubClassOf 'Malignant Bone Neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0021048 -Label(s): benign mastocytoma -- 'benign mastocytoma' SubClassOf 'benign neoplasm' -+ 'benign mastocytoma' SubClassOf 'benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0003518 -Label(s): mediastinum teratoma -- 'mediastinum teratoma' SubClassOf 'mediastinal germ cell tumor' -+ 'mediastinum teratoma' SubClassOf 'mediastinal germ cell tumor' - -Class: http://purl.obolibrary.org/obo/MONDO_0003516 -Label(s): adult teratoma -- 'adult teratoma' SubClassOf 'adult germ cell tumor' -+ 'adult teratoma' SubClassOf 'adult germ cell tumor' - -Class: http://purl.obolibrary.org/obo/MONDO_0003514 -Label(s): malignant teratoma -- 'malignant teratoma' SubClassOf 'Malignant Germ Cell Tumor' -- 'malignant teratoma' SubClassOf 'teratoma' -+ 'malignant teratoma' SubClassOf 'Malignant Germ Cell Tumor' -+ 'malignant teratoma' SubClassOf 'teratoma' ++ 'neoplastic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'neoplasm') ++ 'neoplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'neoplasm' Class: http://purl.obolibrary.org/obo/MONDO_0021024 Label(s): malaria, susceptibility to - 'malaria, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'malaria') - 'malaria, susceptibility to' SubClassOf 'predisposes towards' some 'malaria' -+ 'malaria, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malaria' -+ 'malaria, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malaria') - -Class: http://purl.obolibrary.org/obo/MONDO_0021023 -Label(s): complete androgen insensitivity syndrome -- 'complete androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' -+ 'complete androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0021022 -Label(s): hereditary hyperekplexia -- 'hereditary hyperekplexia' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' -+ 'hereditary hyperekplexia' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0010879 -Label(s): CODAS syndrome -- 'CODAS syndrome' SubClassOf 'syndromic disease' -+ 'CODAS syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0021019 -Label(s): X-linked recessive ocular albinism -- 'X-linked recessive ocular albinism' SubClassOf 'ocular albinism' -+ 'X-linked recessive ocular albinism' SubClassOf 'ocular albinism' - -Class: http://purl.obolibrary.org/obo/MONDO_0021009 -Label(s): salivary gland mucoepidermoid carcinoma -- 'salivary gland mucoepidermoid carcinoma' SubClassOf 'salivary gland carcinoma' -+ 'salivary gland mucoepidermoid carcinoma' SubClassOf 'salivary gland carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0054852 -Label(s): peeling skin syndrome 6 -- 'peeling skin syndrome 6' SubClassOf 'peeling skin syndrome' -+ 'peeling skin syndrome 6' SubClassOf 'peeling skin syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0054845 -Label(s): developmental and epileptic encephalopathy, 66 -- 'developmental and epileptic encephalopathy, 66' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 66' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0054843 -Label(s): ciliary dyskinesia, primary, 38 -- 'ciliary dyskinesia, primary, 38' SubClassOf 'primary ciliary dyskinesia' -+ 'ciliary dyskinesia, primary, 38' SubClassOf 'primary ciliary dyskinesia' - -Class: http://purl.obolibrary.org/obo/MONDO_0054801 -Label(s): erythrocytosis, familial, 6 -- 'erythrocytosis, familial, 6' SubClassOf 'familial polycythemia' -+ 'erythrocytosis, familial, 6' SubClassOf 'familial polycythemia' - -Class: http://www.ebi.ac.uk/efo/EFO_0007492 -Label(s): splenic tuberculosis -- 'splenic tuberculosis' SubClassOf 'splenic disease' -- 'splenic tuberculosis' SubClassOf 'abdominal tuberculosis' -+ 'splenic tuberculosis' SubClassOf 'splenic disease' -+ 'splenic tuberculosis' SubClassOf 'abdominal tuberculosis' - -Class: http://www.ebi.ac.uk/efo/EFO_0007491 -Label(s): spleen cancer -- 'spleen cancer' SubClassOf 'spleen neoplasm' -+ 'spleen cancer' SubClassOf 'spleen neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_1001293 -Label(s): collagenous colitis -- 'collagenous colitis' SubClassOf 'microscopic colitis' -+ 'collagenous colitis' SubClassOf 'microscopic colitis' - -Class: http://www.ebi.ac.uk/efo/EFO_0007480 -Label(s): scrub typhus -- 'scrub typhus' SubClassOf 'typhus' -+ 'scrub typhus' SubClassOf 'typhus' - -Class: http://www.ebi.ac.uk/efo/EFO_1001272 -Label(s): bacterial pneumonia -- 'bacterial pneumonia' SubClassOf 'bacterial disease' -- 'bacterial pneumonia' SubClassOf 'pneumonia' -+ 'bacterial pneumonia' SubClassOf 'bacterial disease' -+ 'bacterial pneumonia' SubClassOf 'pneumonia' - -Class: http://purl.obolibrary.org/obo/MONDO_0002457 -Label(s): Treacher-Collins syndrome -- 'Treacher-Collins syndrome' SubClassOf 'mandibulofacial dysostosis' -- 'Treacher-Collins syndrome' SubClassOf 'syndromic disease' -+ 'Treacher-Collins syndrome' SubClassOf 'mandibulofacial dysostosis' -+ 'Treacher-Collins syndrome' SubClassOf 'syndromic disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1001249 -Label(s): non-alcoholic steatohepatitis -- 'non-alcoholic steatohepatitis' SubClassOf 'non-alcoholic fatty liver disease' -+ 'non-alcoholic steatohepatitis' SubClassOf 'non-alcoholic fatty liver disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1001229 -Label(s): maculopapular cutaneous mastocytosis -- 'maculopapular cutaneous mastocytosis' SubClassOf 'cutaneous mastocytosis' -+ 'maculopapular cutaneous mastocytosis' SubClassOf 'cutaneous mastocytosis' - -Class: http://www.ebi.ac.uk/efo/EFO_0007408 -Label(s): orbital cancer -- 'orbital cancer' SubClassOf 'orbit neoplasm' -+ 'orbital cancer' SubClassOf 'orbit neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_0007407 -Label(s): oral tuberculosis -- 'oral tuberculosis' SubClassOf 'mouth disease' -+ 'oral tuberculosis' SubClassOf 'mouth disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0003480 -Label(s): pineal region dysgerminoma -- 'pineal region dysgerminoma' SubClassOf 'malignant pineal area germ cell neoplasm' -+ 'pineal region dysgerminoma' SubClassOf 'malignant pineal area germ cell neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0002495 -Label(s): colon signet ring cell adenocarcinoma -- 'colon signet ring cell adenocarcinoma' SubClassOf 'colorectal signet ring cell carcinoma' -+ 'colon signet ring cell adenocarcinoma' SubClassOf 'colorectal signet ring cell carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0010924 -Label(s): D-2-hydroxyglutaric aciduria -- 'D-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' -+ 'D-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' - -Class: http://purl.obolibrary.org/obo/MONDO_0003443 -Label(s): papillary urothelial neoplasm -- 'papillary urothelial neoplasm' SubClassOf 'urothelial neoplasm' -+ 'papillary urothelial neoplasm' SubClassOf 'urothelial neoplasm' ++ 'malaria, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malaria' ++ 'malaria, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malaria') Class: http://purl.obolibrary.org/obo/MONDO_0010940 Label(s): inherited susceptibility to asthma - 'inherited susceptibility to asthma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'asthma') - 'inherited susceptibility to asthma' SubClassOf 'predisposes towards' some 'asthma' -+ 'inherited susceptibility to asthma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'asthma' -+ 'inherited susceptibility to asthma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'asthma') - -Class: http://purl.obolibrary.org/obo/MONDO_0003434 -Label(s): vaginal adenoma -- 'vaginal adenoma' SubClassOf 'adenoma' -+ 'vaginal adenoma' SubClassOf 'adenoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1001947 -Label(s): childhood T acute lymphoblastic leukemia -- 'childhood T acute lymphoblastic leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' -+ 'childhood T acute lymphoblastic leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0003419 -Label(s): Bartholin gland adenoma -- 'Bartholin gland adenoma' SubClassOf 'benign epithelial neoplasm' -+ 'Bartholin gland adenoma' SubClassOf 'benign epithelial neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0054794 -Label(s): hydrocephalus, congenital, 3, with brain anomalies -- 'hydrocephalus, congenital, 3, with brain anomalies' SubClassOf 'congenital hydrocephalus' -+ 'hydrocephalus, congenital, 3, with brain anomalies' SubClassOf 'congenital hydrocephalus' - -Class: http://purl.obolibrary.org/obo/MONDO_0010976 -Label(s): epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive -- 'epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive' SubClassOf 'epidermolysis bullosa simplex' -+ 'epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive' SubClassOf 'epidermolysis bullosa simplex' - -Class: http://www.ebi.ac.uk/efo/EFO_1001950 -Label(s): colon carcinoma -- 'colon carcinoma' SubClassOf 'colorectal carcinoma' -+ 'colon carcinoma' SubClassOf 'colorectal carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0010979 -Label(s): Timothy syndrome -- 'Timothy syndrome' SubClassOf 'familial long QT syndrome' -+ 'Timothy syndrome' SubClassOf 'familial long QT syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0018363 -Label(s): focal facial dermal dysplasia -- 'focal facial dermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' -+ 'focal facial dermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0054785 -Label(s): multiple mitochondrial dysfunctions syndrome 6 -- 'multiple mitochondrial dysfunctions syndrome 6' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' -+ 'multiple mitochondrial dysfunctions syndrome 6' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0054782 -Label(s): leukodystrophy, hypomyelinating, 15 -- 'leukodystrophy, hypomyelinating, 15' SubClassOf 'leukodystrophy' -+ 'leukodystrophy, hypomyelinating, 15' SubClassOf 'leukodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0054781 -Label(s): combined oxidative phosphorylation deficiency 36 -- 'combined oxidative phosphorylation deficiency 36' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation deficiency 36' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0010989 -Label(s): Mayer-Rokitansky-Küster-Hauser syndrome type 2 -- 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' SubClassOf 'Mayer-Rokitansky-Kuster-Hauser syndrome' -+ 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' SubClassOf 'Mayer-Rokitansky-Kuster-Hauser syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0030674 -Label(s): Teebi hypertelorism syndrome 2 -- 'Teebi hypertelorism syndrome 2' SubClassOf 'Teebi hypertelorism syndrome' -+ 'Teebi hypertelorism syndrome 2' SubClassOf 'Teebi hypertelorism syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_1001960 -Label(s): hypopharyngeal squamous cell carcinoma -- 'hypopharyngeal squamous cell carcinoma' SubClassOf 'pharyngeal squamous cell carcinoma' -- 'hypopharyngeal squamous cell carcinoma' SubClassOf 'hypopharyngeal carcinoma' -+ 'hypopharyngeal squamous cell carcinoma' SubClassOf 'pharyngeal squamous cell carcinoma' -+ 'hypopharyngeal squamous cell carcinoma' SubClassOf 'hypopharyngeal carcinoma' ++ 'inherited susceptibility to asthma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'asthma') ++ 'inherited susceptibility to asthma' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'asthma' Class: http://purl.obolibrary.org/obo/MONDO_0054754 Label(s): encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 - 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy' -+ 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Mendelian encephalopathy' ++ 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Mendelian encephalopathy' Class: http://purl.obolibrary.org/obo/MONDO_0054750 Label(s): amyotrophic lateral sclerosis, susceptibility to, 24 - 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf 'predisposes towards' some 'familial amyotrophic lateral sclerosis' -+ 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'familial amyotrophic lateral sclerosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0007892 -Label(s): Lenz-Majewski hyperostotic dwarfism -- 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'syndromic disease' -+ 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0054743 -Label(s): polycystic liver disease 3 with or without kidney cysts -- 'polycystic liver disease 3 with or without kidney cysts' SubClassOf 'autosomal dominant polycystic liver disease' -+ 'polycystic liver disease 3 with or without kidney cysts' SubClassOf 'autosomal dominant polycystic liver disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0054742 -Label(s): combined oxidative phosphorylation deficiency 35 -- 'combined oxidative phosphorylation deficiency 35' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation deficiency 35' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0054741 -Label(s): combined oxidative phosphorylation deficiency 34 -- 'combined oxidative phosphorylation deficiency 34' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation deficiency 34' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0007562 -Label(s): multiple epiphyseal dysplasia, Beighton type -- 'multiple epiphyseal dysplasia, Beighton type' SubClassOf 'multiple epiphyseal dysplasia' -+ 'multiple epiphyseal dysplasia, Beighton type' SubClassOf 'multiple epiphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0054731 -Label(s): spermatogenic failure 27 -- 'spermatogenic failure 27' SubClassOf 'azoospermia' -+ 'spermatogenic failure 27' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0054728 -Label(s): spermatogenic failure 24 -- 'spermatogenic failure 24' SubClassOf 'azoospermia' -+ 'spermatogenic failure 24' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0054727 -Label(s): spermatogenic failure 23 -- 'spermatogenic failure 23' SubClassOf 'azoospermia' -+ 'spermatogenic failure 23' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0054723 -Label(s): spermatogenic failure 19 -- 'spermatogenic failure 19' SubClassOf 'azoospermia' -+ 'spermatogenic failure 19' SubClassOf 'azoospermia' - -Class: http://www.ebi.ac.uk/efo/EFO_1001992 -Label(s): Scapuloperoneal spinal muscular atrophy -- 'Scapuloperoneal spinal muscular atrophy' SubClassOf 'hereditary motor neuron disease' -- 'Scapuloperoneal spinal muscular atrophy' SubClassOf 'autosomal dominant disease' -+ 'Scapuloperoneal spinal muscular atrophy' SubClassOf 'autosomal dominant disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1001999 -Label(s): systemic juvenile idiopathic arthritis -- 'systemic juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' -+ 'systemic juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' - -Class: http://purl.obolibrary.org/obo/MONDO_0054701 -Label(s): Kleefstra syndrome 2 -- 'Kleefstra syndrome 2' SubClassOf 'Kleefstra syndrome' -+ 'Kleefstra syndrome 2' SubClassOf 'Kleefstra syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0054700 -Label(s): proteasome-associated autoinflammatory syndrome 2 -- 'proteasome-associated autoinflammatory syndrome 2' SubClassOf 'proteosome-associated autoinflammatory syndrome' -+ 'proteasome-associated autoinflammatory syndrome 2' SubClassOf 'proteosome-associated autoinflammatory syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011219 -Label(s): Fried's tooth and nail syndrome -- 'Fried's tooth and nail syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'Fried's tooth and nail syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0007394 -Label(s): neuroschistosomiasis -- 'neuroschistosomiasis' SubClassOf 'schistosomiasis' -+ 'neuroschistosomiasis' SubClassOf 'schistosomiasis' - -Class: http://www.ebi.ac.uk/efo/EFO_0007392 -Label(s): nervous system cancer -- 'nervous system cancer' SubClassOf 'cancer' -+ 'nervous system cancer' SubClassOf 'cancer' - -Class: http://www.ebi.ac.uk/efo/EFO_0007387 -Label(s): Mycoplasma pneumoniae pneumonia -+ 'Mycoplasma pneumoniae pneumonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_1030003 - -Class: http://www.ebi.ac.uk/efo/EFO_0007380 -Label(s): mucormycosis -- 'mucormycosis' SubClassOf 'opportunistic mycosis' -+ 'mucormycosis' SubClassOf 'opportunistic mycosis' - -Class: http://www.ebi.ac.uk/efo/EFO_1001184 -Label(s): small cell sarcoma -- 'small cell sarcoma' SubClassOf 'sarcoma' -+ 'small cell sarcoma' SubClassOf 'sarcoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0007379 -Label(s): mucocutaneous Leishmaniasis -- 'mucocutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' -+ 'mucocutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' ++ 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'familial amyotrophic lateral sclerosis' + +Class: http://purl.obolibrary.org/obo/HP_0001387 +Label(s): Joint stiffness +- 'Joint stiffness' SubClassOf 'Abnormality of the skeletal system' ++ 'Joint stiffness' SubClassOf 'Phenotypic abnormality' Class: http://www.ebi.ac.uk/efo/EFO_1001175 Label(s): secondary Parkinson disease - 'secondary Parkinson disease' SubClassOf 'disease shares features of' some 'Parkinson disease' -+ 'secondary Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Parkinson disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1001173 -Label(s): secondary hyperparathyroidism -- 'secondary hyperparathyroidism' SubClassOf 'hyperparathyroidism' -+ 'secondary hyperparathyroidism' SubClassOf 'hyperparathyroidism' - -Class: http://www.ebi.ac.uk/efo/EFO_1001171 -Label(s): sebaceous adenocarcinoma -- 'sebaceous adenocarcinoma' SubClassOf 'sebaceous gland cancer' -+ 'sebaceous adenocarcinoma' SubClassOf 'sebaceous gland cancer' - -Class: http://www.ebi.ac.uk/efo/EFO_0007357 -Label(s): mansonelliasis -- 'mansonelliasis' SubClassOf 'filariasis' -+ 'mansonelliasis' SubClassOf 'filariasis' - -Class: http://www.ebi.ac.uk/efo/EFO_1001158 -Label(s): retinopathy of prematurity -- 'retinopathy of prematurity' SubClassOf 'retinopathy' -+ 'retinopathy of prematurity' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040041 - -Class: http://www.ebi.ac.uk/efo/EFO_0007321 -Label(s): hypopharynx cancer -- 'hypopharynx cancer' SubClassOf 'neoplasm of hypopharynx' -+ 'hypopharynx cancer' SubClassOf 'neoplasm of hypopharynx' - -Class: http://purl.obolibrary.org/obo/MONDO_0600030 -Label(s): B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) -- 'B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)' SubClassOf 'B-cell acute lymphoblastic leukemia' -+ 'B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)' SubClassOf 'B-cell acute lymphoblastic leukemia' - -Class: http://purl.obolibrary.org/obo/CL_1000452 -Label(s): parietal epithelial cell -- 'parietal epithelial cell' SubClassOf 'epithelial cell' -+ 'parietal epithelial cell' SubClassOf 'squamous epithelial cell' - -Class: http://purl.obolibrary.org/obo/MONDO_0003376 -Label(s): mediastinum leiomyosarcoma -- 'mediastinum leiomyosarcoma' SubClassOf 'leiomyosarcoma' -+ 'mediastinum leiomyosarcoma' SubClassOf 'leiomyosarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0003373 -Label(s): kidney leiomyosarcoma -- 'kidney leiomyosarcoma' SubClassOf 'leiomyosarcoma' -+ 'kidney leiomyosarcoma' SubClassOf 'leiomyosarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0003369 -Label(s): vagina leiomyosarcoma -- 'vagina leiomyosarcoma' SubClassOf 'leiomyosarcoma' -+ 'vagina leiomyosarcoma' SubClassOf 'leiomyosarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0003368 -Label(s): prostate leiomyosarcoma -- 'prostate leiomyosarcoma' SubClassOf 'leiomyosarcoma' -+ 'prostate leiomyosarcoma' SubClassOf 'leiomyosarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0003364 -Label(s): gallbladder leiomyosarcoma -+ 'gallbladder leiomyosarcoma' SubClassOf 'leiomyosarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0000385 -Label(s): benign digestive system neoplasm -- 'benign digestive system neoplasm' SubClassOf 'benign neoplasm' -+ 'benign digestive system neoplasm' SubClassOf 'benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0003357 -Label(s): lung leiomyosarcoma -- 'lung leiomyosarcoma' SubClassOf 'leiomyosarcoma' -+ 'lung leiomyosarcoma' SubClassOf 'leiomyosarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0003353 -Label(s): heart leiomyosarcoma -- 'heart leiomyosarcoma' SubClassOf 'leiomyosarcoma' -+ 'heart leiomyosarcoma' SubClassOf 'leiomyosarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0003349 -Label(s): central nervous system leiomyosarcoma -- 'central nervous system leiomyosarcoma' SubClassOf 'leiomyosarcoma' -+ 'central nervous system leiomyosarcoma' SubClassOf 'leiomyosarcoma' ++ 'secondary Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Parkinson disease' Class: http://purl.obolibrary.org/obo/MONDO_0018430 Label(s): partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome - 'partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0003313 -Label(s): endometrioid stromal sarcoma of the vagina -- 'endometrioid stromal sarcoma of the vagina' SubClassOf 'endometrioid stromal and related neoplasms of the vagina' -+ 'endometrioid stromal sarcoma of the vagina' SubClassOf 'endometrioid stromal and related neoplasms of the vagina' - -Class: http://purl.obolibrary.org/obo/MONDO_0054699 -Label(s): proteasome-associated autoinflammatory syndrome 3 -- 'proteasome-associated autoinflammatory syndrome 3' SubClassOf 'proteosome-associated autoinflammatory syndrome' -+ 'proteasome-associated autoinflammatory syndrome 3' SubClassOf 'proteosome-associated autoinflammatory syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0054691 -Label(s): immunodeficiency, common variable, 14 -- 'immunodeficiency, common variable, 14' SubClassOf 'common variable immunodeficiency' -+ 'immunodeficiency, common variable, 14' SubClassOf 'common variable immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0008998 -Label(s): Cockayne syndrome type 3 -- 'Cockayne syndrome type 3' SubClassOf 'Cockayne syndrome' -+ 'Cockayne syndrome type 3' SubClassOf 'Cockayne syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0008988 -Label(s): citrullinemia type I -- 'citrullinemia type I' SubClassOf 'citrullinemia' -+ 'citrullinemia type I' SubClassOf 'citrullinemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008974 -Label(s): Greenberg dysplasia -- 'Greenberg dysplasia' SubClassOf 'chondrodysplasia punctata' -+ 'Greenberg dysplasia' SubClassOf 'chondrodysplasia punctata' - -Class: http://purl.obolibrary.org/obo/MONDO_0008958 -Label(s): Klippel-Feil syndrome 2, autosomal recessive -- 'Klippel-Feil syndrome 2, autosomal recessive' SubClassOf 'Klippel-Feil syndrome' -+ 'Klippel-Feil syndrome 2, autosomal recessive' SubClassOf 'Klippel-Feil syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0008955 -Label(s): cerebrooculofacioskeletal syndrome 1 -- 'cerebrooculofacioskeletal syndrome 1' SubClassOf 'COFS syndrome' -+ 'cerebrooculofacioskeletal syndrome 1' SubClassOf 'COFS syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0054615 -Label(s): spermatogenic failure 18 -- 'spermatogenic failure 18' SubClassOf 'azoospermia' -+ 'spermatogenic failure 18' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008923 -Label(s): autosomal recessive palmoplantar keratoderma and congenital alopecia -- 'autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'ectodermal dysplasia syndrome' -+ 'autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0008922 -Label(s): Sengers syndrome -- 'Sengers syndrome' SubClassOf 'mitochondrial DNA depletion syndrome' -+ 'Sengers syndrome' SubClassOf 'mitochondrial DNA depletion syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0008907 -Label(s): PMM2-congenital disorder of glycosylation -- 'PMM2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'PMM2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0011070 -Label(s): van Maldergem syndrome 1 -- 'van Maldergem syndrome 1' SubClassOf 'van Maldergem syndrome' -+ 'van Maldergem syndrome 1' SubClassOf 'van Maldergem syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0007296 -Label(s): hantavirus pulmonary syndrome -- 'hantavirus pulmonary syndrome' SubClassOf 'lung disease' -+ 'hantavirus pulmonary syndrome' SubClassOf 'lung disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1001094 -Label(s): penile neoplasm -- 'penile neoplasm' SubClassOf 'male reproductive system neoplasm' -+ 'penile neoplasm' SubClassOf 'male reproductive system neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_1001093 -Label(s): Pelger-Huet anomaly -+ 'Pelger-Huet anomaly' SubClassOf 'leukocyte disorder' - -Class: http://www.ebi.ac.uk/efo/EFO_1001081 -Label(s): panophthalmitis -- 'panophthalmitis' SubClassOf 'purulent endophthalmitis' -+ 'panophthalmitis' SubClassOf 'purulent endophthalmitis' - -Class: http://www.ebi.ac.uk/efo/EFO_0007272 -Label(s): filarial elephantiasis -- 'filarial elephantiasis' SubClassOf 'filariasis' -+ 'filarial elephantiasis' SubClassOf 'filariasis' - -Class: http://www.ebi.ac.uk/efo/EFO_1001073 -Label(s): optic nerve neoplasm -- 'optic nerve neoplasm' SubClassOf 'optic nerve disorder' -+ 'optic nerve neoplasm' SubClassOf 'optic nerve disorder' - -Class: http://www.ebi.ac.uk/efo/EFO_1001059 -Label(s): neonatal myasthenia gravis -- 'neonatal myasthenia gravis' SubClassOf 'Myasthenia gravis' -+ 'neonatal myasthenia gravis' SubClassOf 'Myasthenia gravis' - -Class: http://www.ebi.ac.uk/efo/EFO_1001053 -Label(s): myoclonic cerebellar dyssynergia -- 'myoclonic cerebellar dyssynergia' SubClassOf 'disease shares features of' some 'myoclonic cerebellar dyssynergia' - -Class: http://www.ebi.ac.uk/efo/EFO_1001040 -Label(s): meningococcal meningitis -- 'meningococcal meningitis' SubClassOf 'bacterial meningitis' -+ 'meningococcal meningitis' SubClassOf 'bacterial meningitis' - -Class: http://www.ebi.ac.uk/efo/EFO_0007239 -Label(s): dirofilariasis -- 'dirofilariasis' SubClassOf 'filariasis' -+ 'dirofilariasis' SubClassOf 'filariasis' - -Class: http://www.orpha.net/ORDO/Orphanet_2053 -Label(s): Freeman-Sheldon syndrome -- 'Freeman-Sheldon syndrome' SubClassOf 'distal arthrogryposis' -+ 'Freeman-Sheldon syndrome' SubClassOf 'distal arthrogryposis' - -Class: http://www.ebi.ac.uk/efo/EFO_1001036 -Label(s): Meckel's diverticulum -+ 'Meckel's diverticulum' SubClassOf 'digestive system disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0007220 -Label(s): congenital toxoplasmosis -- 'congenital toxoplasmosis' SubClassOf 'toxoplasmosis' -+ 'congenital toxoplasmosis' SubClassOf 'toxoplasmosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0013986 -Label(s): combined oxidative phosphorylation defect type 14 -- 'combined oxidative phosphorylation defect type 14' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation defect type 14' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://www.ebi.ac.uk/efo/EFO_1001026 -Label(s): lymphangioendothelioma -+ 'lymphangioendothelioma' SubClassOf 'epithelial neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_0007219 -Label(s): congenital syphilis -- 'congenital syphilis' SubClassOf 'syphilis' -+ 'congenital syphilis' SubClassOf 'syphilis' - -Class: http://www.ebi.ac.uk/efo/EFO_0007218 -Label(s): congenital rubella -- 'congenital rubella' SubClassOf 'rubella' -+ 'congenital rubella' SubClassOf 'rubella' - -Class: http://purl.obolibrary.org/obo/MONDO_0013977 -Label(s): combined oxidative phosphorylation defect type 13 -- 'combined oxidative phosphorylation defect type 13' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation defect type 13' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0013975 -Label(s): ectodermal dysplasia 7, hair/nail type -- 'ectodermal dysplasia 7, hair/nail type' SubClassOf 'pure hair and nail ectodermal dysplasia' -+ 'ectodermal dysplasia 7, hair/nail type' SubClassOf 'pure hair and nail ectodermal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0013972 -Label(s): Perrault syndrome 2 -- 'Perrault syndrome 2' SubClassOf 'Perrault syndrome' -+ 'Perrault syndrome 2' SubClassOf 'Perrault syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0007206 -Label(s): choroid plexus cancer -- 'choroid plexus cancer' SubClassOf 'cerebral ventricle cancer' -+ 'choroid plexus cancer' SubClassOf 'cerebral ventricle cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0013968 -Label(s): PGM1-congenital disorder of glycosylation -- 'PGM1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'PGM1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0000447 -Label(s): autosomal dominant polycystic liver disease -- 'autosomal dominant polycystic liver disease' SubClassOf 'liver disease' -+ 'autosomal dominant polycystic liver disease' SubClassOf 'liver disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0003297 -Label(s): gallbladder leiomyoma -- 'gallbladder leiomyoma' SubClassOf 'benign neoplasm of gallbladder' -+ 'gallbladder leiomyoma' SubClassOf 'benign neoplasm of gallbladder' - -Class: http://purl.obolibrary.org/obo/MONDO_0013947 -Label(s): neuronopathy, distal hereditary motor, autosomal recessive 5 -- 'neuronopathy, distal hereditary motor, autosomal recessive 5' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' -+ 'neuronopathy, distal hereditary motor, autosomal recessive 5' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' - -Class: http://purl.obolibrary.org/obo/MONDO_0003278 -Label(s): inner ear cancer -- 'inner ear cancer' SubClassOf 'malignant ear neoplasm' -+ 'inner ear cancer' SubClassOf 'malignant ear neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0003275 -Label(s): middle ear cancer -- 'middle ear cancer' SubClassOf 'malignant ear neoplasm' -+ 'middle ear cancer' SubClassOf 'malignant ear neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0003274 -Label(s): thoracic cancer -- 'thoracic cancer' SubClassOf 'cancer' -+ 'thoracic cancer' SubClassOf 'cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0013925 -Label(s): methylmalonic acidemia with homocystinuria, type cblJ -- 'methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'methylmalonic aciduria and homocystinuria' -+ 'methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'methylmalonic aciduria and homocystinuria' ++ 'partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' + +Class: http://purl.obolibrary.org/obo/MONDO_0008992 +Label(s): Juberg-Hayward syndrome ++ 'Juberg-Hayward syndrome' SubClassOf 'genetic disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0008967 +Label(s): congenital bile acid synthesis defect 4 +- 'congenital bile acid synthesis defect 4' SubClassOf 'congenital nervous system disorder' + +Class: http://www.ebi.ac.uk/efo/EFO_0007262 +Label(s): epilepsy with generalized tonic-clonic seizures ++ 'epilepsy with generalized tonic-clonic seizures' SubClassOf 'generalised epilepsy' Class: http://purl.obolibrary.org/obo/MONDO_0013920 Label(s): herpes simplex encephalitis, susceptibility to, 3 - 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy' -+ 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Mendelian encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0018515 -Label(s): squamous cell carcinoma of rectum -- 'squamous cell carcinoma of rectum' SubClassOf 'rectal carcinoma' -+ 'squamous cell carcinoma of rectum' SubClassOf 'rectal carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0013901 -Label(s): spermatogenic failure 10 -- 'spermatogenic failure 10' SubClassOf 'azoospermia' -+ 'spermatogenic failure 10' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0003249 -Label(s): pineal gland cancer -- 'pineal gland cancer' SubClassOf 'malignant endocrine neoplasm' -+ 'pineal gland cancer' SubClassOf 'malignant endocrine neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0003241 -Label(s): central nervous system hemangioma -- 'central nervous system hemangioma' SubClassOf 'central nervous system organ benign neoplasm' -+ 'central nervous system hemangioma' SubClassOf 'central nervous system organ benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0003234 -Label(s): optic nerve astrocytoma -- 'optic nerve astrocytoma' SubClassOf 'optic tract astrocytoma' -+ 'optic nerve astrocytoma' SubClassOf 'optic tract astrocytoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0018543 -Label(s): autosomal dominant hypocalcemia -- 'autosomal dominant hypocalcemia' SubClassOf 'autosomal dominant disease' -+ 'autosomal dominant hypocalcemia' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0018544 -Label(s): adrenoleukodystrophy -- 'adrenoleukodystrophy' SubClassOf 'leukodystrophy' -+ 'adrenoleukodystrophy' SubClassOf 'leukodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0008892 -Label(s): progressive familial intrahepatic cholestasis type 1 -- 'progressive familial intrahepatic cholestasis type 1' SubClassOf 'progressive familial intrahepatic cholestasis' -+ 'progressive familial intrahepatic cholestasis type 1' SubClassOf 'progressive familial intrahepatic cholestasis' ++ 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Mendelian encephalopathy' Class: http://purl.obolibrary.org/obo/MONDO_0008891 Label(s): riboflavin transporter deficiency - 'riboflavin transporter deficiency' SubClassOf 'disease has major feature' some 'Sensorineural hearing impairment' - 'riboflavin transporter deficiency' SubClassOf 'disease has major feature' some 'bulbospinal muscular atrophy' -+ 'riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'bulbospinal muscular atrophy' -+ 'riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Sensorineural hearing impairment' - -Class: http://purl.obolibrary.org/obo/MONDO_0013271 -Label(s): frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome -- 'frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome' SubClassOf 'frontonasal dysplasia' -+ 'frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome' SubClassOf 'frontonasal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008885 -Label(s): Elsahy-Waters syndrome -- 'Elsahy-Waters syndrome' SubClassOf 'syndromic disease' -+ 'Elsahy-Waters syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0008877 -Label(s): blue diaper syndrome -- 'blue diaper syndrome' SubClassOf 'inborn disorder of amino acid transport' -+ 'blue diaper syndrome' SubClassOf 'inborn disorder of amino acid transport' ++ 'riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'bulbospinal muscular atrophy' ++ 'riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Sensorineural hearing impairment' Class: http://purl.obolibrary.org/obo/MONDO_0018591 Label(s): ITM2B amyloidosis - 'ITM2B amyloidosis' SubClassOf 'disease has major feature' some 'dementia' -- 'ITM2B amyloidosis' SubClassOf 'hereditary amyloidosis' -+ 'ITM2B amyloidosis' SubClassOf 'hereditary amyloidosis' -+ 'ITM2B amyloidosis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' - -Class: http://purl.obolibrary.org/obo/MONDO_0054559 -Label(s): congenital disorder of glycosylation, type IIq -- 'congenital disorder of glycosylation, type IIq' SubClassOf 'congenital disorder of glycosylation type II' -+ 'congenital disorder of glycosylation, type IIq' SubClassOf 'congenital disorder of glycosylation type II' - -Class: http://purl.obolibrary.org/obo/MONDO_0008824 -Label(s): fetal akinesia deformation sequence -- 'fetal akinesia deformation sequence' SubClassOf 'syndromic disease' -+ 'fetal akinesia deformation sequence' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0008823 -Label(s): arthrogryposis multiplex congenita 2, neurogenic type -- 'arthrogryposis multiplex congenita 2, neurogenic type' SubClassOf 'arthrogryposis multiplex congenita' -+ 'arthrogryposis multiplex congenita 2, neurogenic type' SubClassOf 'arthrogryposis multiplex congenita' - -Class: http://purl.obolibrary.org/obo/MONDO_0008812 -Label(s): AREDYLD syndrome -- 'AREDYLD syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'AREDYLD syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0007195 -Label(s): cat-scratch disease -- 'cat-scratch disease' SubClassOf 'bartonellosis' -+ 'cat-scratch disease' SubClassOf 'bartonellosis' - -Class: http://www.ebi.ac.uk/efo/EFO_0007190 -Label(s): campylobacteriosis -- 'campylobacteriosis' SubClassOf 'gastroenteritis' -+ 'campylobacteriosis' SubClassOf 'gastroenteritis' - -Class: http://www.ebi.ac.uk/efo/EFO_0007184 -Label(s): bronchopneumonia -- 'bronchopneumonia' SubClassOf 'pneumonia' -+ 'bronchopneumonia' SubClassOf 'pneumonia' - -Class: http://purl.obolibrary.org/obo/MONDO_0011335 -Label(s): spondyloepimetaphyseal dysplasia with multiple dislocations -- 'spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'spondyloepimetaphyseal dysplasia with joint laxity' -+ 'spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'spondyloepimetaphyseal dysplasia with joint laxity' - -Class: http://purl.obolibrary.org/obo/MONDO_0015037 -Label(s): lissencephaly with cerebellar hypoplasia type D -- 'lissencephaly with cerebellar hypoplasia type D' SubClassOf 'lissencephaly with cerebellar hypoplasia' -+ 'lissencephaly with cerebellar hypoplasia type D' SubClassOf 'lissencephaly with cerebellar hypoplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0015039 -Label(s): lissencephaly with cerebellar hypoplasia type F -- 'lissencephaly with cerebellar hypoplasia type F' SubClassOf 'lissencephaly with cerebellar hypoplasia' -+ 'lissencephaly with cerebellar hypoplasia type F' SubClassOf 'lissencephaly with cerebellar hypoplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0011342 -Label(s): SLC35A1-congenital disorder of glycosylation -- 'SLC35A1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' -+ 'SLC35A1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' - -Class: http://www.ebi.ac.uk/efo/EFO_0007153 -Label(s): asbestosis -- 'asbestosis' SubClassOf 'pneumoconiosis' -+ 'asbestosis' SubClassOf 'pneumoconiosis' - -Class: http://www.ebi.ac.uk/efo/EFO_0007140 -Label(s): allergic bronchopulmonary aspergillosis -- 'allergic bronchopulmonary aspergillosis' SubClassOf 'allergic respiratory disease' -+ 'allergic bronchopulmonary aspergillosis' SubClassOf 'allergic respiratory disease' ++ 'ITM2B amyloidosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' Class: http://www.ebi.ac.uk/efo/EFO_0007136 Label(s): agnosia - 'agnosia' EquivalentTo 'perceptual disorders' and ('disease has major feature' some 'Disturbed sensory perception') - 'agnosia' SubClassOf 'disease has major feature' some 'Disturbed sensory perception' -+ 'agnosia' EquivalentTo 'perceptual disorders' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Disturbed sensory perception') -+ 'agnosia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Disturbed sensory perception' - -Class: http://purl.obolibrary.org/obo/MONDO_0013890 -Label(s): congenital myopathy with internal nuclei and atypical cores -- 'congenital myopathy with internal nuclei and atypical cores' SubClassOf 'centronuclear myopathy' -+ 'congenital myopathy with internal nuclei and atypical cores' SubClassOf 'centronuclear myopathy' - -Class: http://www.ebi.ac.uk/efo/EFO_0007126 -Label(s): Acanthamoeba keratitis -- 'Acanthamoeba keratitis' SubClassOf 'corneal infection' -+ 'Acanthamoeba keratitis' SubClassOf 'corneal infection' - -Class: http://purl.obolibrary.org/obo/MONDO_0025701 -Label(s): leukodystrophy, hypomyelinating, 22 -- 'leukodystrophy, hypomyelinating, 22' SubClassOf 'leukodystrophy' -+ 'leukodystrophy, hypomyelinating, 22' SubClassOf 'leukodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0013877 -Label(s): mitochondrial pyruvate carrier deficiency -- 'mitochondrial pyruvate carrier deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' -- 'mitochondrial pyruvate carrier deficiency' SubClassOf 'autosomal recessive disease' -+ 'mitochondrial pyruvate carrier deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' -+ 'mitochondrial pyruvate carrier deficiency' SubClassOf 'autosomal recessive disease' ++ 'agnosia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Disturbed sensory perception' ++ 'agnosia' EquivalentTo 'perceptual disorders' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Disturbed sensory perception') Class: http://purl.obolibrary.org/obo/MONDO_0013876 Label(s): basal cell carcinoma, susceptibility to, 7 - 'basal cell carcinoma, susceptibility to, 7' SubClassOf 'predisposes towards' some 'skin basal cell carcinoma' -+ 'basal cell carcinoma, susceptibility to, 7' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'skin basal cell carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0013872 -Label(s): prostate cancer, hereditary, 2 -- 'prostate cancer, hereditary, 2' SubClassOf 'familial prostate carcinoma' -+ 'prostate cancer, hereditary, 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700275 - -Class: http://purl.obolibrary.org/obo/MONDO_0013870 -Label(s): TMEM165-congenital disorder of glycosylation -- 'TMEM165-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' -+ 'TMEM165-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' - -Class: http://www.ebi.ac.uk/efo/EFO_1001974 -Label(s): uterine leiomyosarcoma -- 'uterine leiomyosarcoma' SubClassOf 'leiomyosarcoma' -+ 'uterine leiomyosarcoma' SubClassOf 'leiomyosarcoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1001975 -Label(s): vulvar leiomyosarcoma -- 'vulvar leiomyosarcoma' SubClassOf 'leiomyosarcoma' -+ 'vulvar leiomyosarcoma' SubClassOf 'leiomyosarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0013840 -Label(s): encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome -- 'encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome' SubClassOf 'coenzyme Q10 deficiency' -+ 'encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome' SubClassOf 'coenzyme Q10 deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0013838 -Label(s): coenzyme Q10 deficiency, primary, 3 -- 'coenzyme Q10 deficiency, primary, 3' SubClassOf 'coenzyme Q10 deficiency' -+ 'coenzyme Q10 deficiency, primary, 3' SubClassOf 'coenzyme Q10 deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0013836 -Label(s): familial steroid-resistant nephrotic syndrome with sensorineural deafness -- 'familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'coenzyme Q10 deficiency' -+ 'familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'coenzyme Q10 deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0003164 -Label(s): cauda equina neoplasm -- 'cauda equina neoplasm' SubClassOf 'nerve root neoplasm' -+ 'cauda equina neoplasm' SubClassOf 'nerve root neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0013819 -Label(s): intellectual disability, autosomal dominant 14 -- 'intellectual disability, autosomal dominant 14' SubClassOf 'Coffin-Siris syndrome' -+ 'intellectual disability, autosomal dominant 14' SubClassOf 'Coffin-Siris syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0013811 -Label(s): combined oxidative phosphorylation defect type 9 -- 'combined oxidative phosphorylation defect type 9' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation defect type 9' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0013810 -Label(s): COG6-ongenital disorder of glycosylation -- 'COG6-ongenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' -+ 'COG6-ongenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' - -Class: http://purl.obolibrary.org/obo/MONDO_0003153 -Label(s): adult brainstem glioma -- 'adult brainstem glioma' SubClassOf 'adult brain stem neoplasm' -+ 'adult brainstem glioma' SubClassOf 'adult brain stem neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0007187 -Label(s): nevoid basal cell carcinoma syndrome -- 'nevoid basal cell carcinoma syndrome' SubClassOf 'autosomal dominant disease' -+ 'nevoid basal cell carcinoma syndrome' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0013805 -Label(s): intellectual disability, autosomal dominant 13 -+ 'intellectual disability, autosomal dominant 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040031 - -Class: http://purl.obolibrary.org/obo/GO_0009163 -Label(s): nucleoside biosynthetic process -- 'nucleoside biosynthetic process' SubClassOf 'organonitrogen compound biosynthetic process' ++ 'basal cell carcinoma, susceptibility to, 7' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'skin basal cell carcinoma' Class: http://www.ebi.ac.uk/efo/EFO_0009266 Label(s): refractory celiac disease - 'refractory celiac disease' SubClassOf 'disease shares features of' some 'celiac disease' -+ 'refractory celiac disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'celiac disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0003124 -Label(s): testicular Leydig cell tumor -- 'testicular Leydig cell tumor' SubClassOf 'testicular sex cord-stromal neoplasm' -+ 'testicular Leydig cell tumor' SubClassOf 'testicular sex cord-stromal neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0003111 -Label(s): gastric neuroendocrine neoplasm -- 'gastric neuroendocrine neoplasm' SubClassOf 'digestive system neuroendocrine neoplasm' -+ 'gastric neuroendocrine neoplasm' SubClassOf 'digestive system neuroendocrine neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0003110 -Label(s): skin hemangioma -- 'skin hemangioma' SubClassOf 'benign epithelial skin neoplasm' -+ 'skin hemangioma' SubClassOf 'epithelial skin neoplasm' -+ 'skin hemangioma' SubClassOf 'benign neoplasm of skin' - -Class: http://purl.obolibrary.org/obo/MONDO_0036976 -Label(s): benign epithelial neoplasm -- 'benign epithelial neoplasm' SubClassOf 'benign neoplasm' -+ 'benign epithelial neoplasm' SubClassOf 'benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0008795 -Label(s): aniridia-cerebellar ataxia-intellectual disability syndrome -- 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'syndromic disease' -+ 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0859328 -Label(s): hypomagnesemia 7, renal, with or without dilated cardiomyopathy -- 'hypomagnesemia 7, renal, with or without dilated cardiomyopathy' SubClassOf 'familial primary hypomagnesemia' -+ 'hypomagnesemia 7, renal, with or without dilated cardiomyopathy' SubClassOf 'familial primary hypomagnesemia' ++ 'refractory celiac disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'celiac disease' + +Class: http://purl.obolibrary.org/obo/HP_0100607 +Label(s): Dysmenorrhea ++ 'Dysmenorrhea' SubClassOf 'Pain' Class: http://purl.obolibrary.org/obo/MONDO_0008763 Label(s): Alstrom syndrome - 'Alstrom syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' -- 'Alstrom syndrome' SubClassOf 'syndromic disease' -+ 'Alstrom syndrome' SubClassOf 'syndromic disease' -+ 'Alstrom syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0008762 -Label(s): autosomal recessive Alport syndrome -- 'autosomal recessive Alport syndrome' SubClassOf 'Alport syndrome' -- 'autosomal recessive Alport syndrome' SubClassOf 'autosomal recessive disease' -+ 'autosomal recessive Alport syndrome' SubClassOf 'Alport syndrome' -+ 'autosomal recessive Alport syndrome' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0008753 -Label(s): alkaptonuria -- 'alkaptonuria' SubClassOf 'disorder of tyrosine metabolism' -+ 'alkaptonuria' SubClassOf 'disorder of tyrosine metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0008752 -Label(s): Alexander disease -- 'Alexander disease' SubClassOf 'leukodystrophy' -+ 'Alexander disease' SubClassOf 'leukodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0008746 -Label(s): oculocutaneous albinism type 2 -- 'oculocutaneous albinism type 2' SubClassOf 'oculocutaneous albinism' -+ 'oculocutaneous albinism type 2' SubClassOf 'oculocutaneous albinism' - -Class: http://purl.obolibrary.org/obo/MONDO_0008742 -Label(s): autosomal dominant severe congenital neutropenia -- 'autosomal dominant severe congenital neutropenia' SubClassOf 'autosomal dominant disease' -- 'autosomal dominant severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' -+ 'autosomal dominant severe congenital neutropenia' SubClassOf 'autosomal dominant disease' -+ 'autosomal dominant severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008730 -Label(s): congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency -- 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' -+ 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010569 -Label(s): X-linked complicated corpus callosum dysgenesis -- 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'L1 syndrome' -+ 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'L1 syndrome' ++ 'Alstrom syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' + +Class: http://purl.obolibrary.org/obo/MONDO_0008759 +Label(s): oxoglutaricaciduria +- 'oxoglutaricaciduria' SubClassOf 'metabolic epilepsy' + +Class: http://purl.obolibrary.org/obo/MONDO_0008758 +Label(s): mitochondrial DNA depletion syndrome 4a +- 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'metabolic epilepsy' Class: http://purl.obolibrary.org/obo/MONDO_0008711 Label(s): Goodman syndrome - 'Goodman syndrome' SubClassOf 'disease shares features of' some 'Carpenter syndrome' -+ 'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Carpenter syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0008703 -Label(s): acromesomelic dysplasia 2A -- 'acromesomelic dysplasia 2A' SubClassOf 'acromesomelic dysplasia' -+ 'acromesomelic dysplasia 2A' SubClassOf 'acromesomelic dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0020119 -Label(s): X-linked syndromic intellectual disability -- 'X-linked syndromic intellectual disability' SubClassOf 'syndromic intellectual disability' -+ 'X-linked syndromic intellectual disability' SubClassOf 'syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0008701 -Label(s): achondrogenesis type IA -+ 'achondrogenesis type IA' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040009 - -Class: http://purl.obolibrary.org/obo/GO_0042423 -Label(s): catecholamine biosynthetic process -- 'catecholamine biosynthetic process' SubClassOf 'organonitrogen compound biosynthetic process' -+ 'catecholamine biosynthetic process' SubClassOf 'biosynthetic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0013795 -Label(s): fibrochondrogenesis 2 -- 'fibrochondrogenesis 2' SubClassOf 'fibrochondrogenesis' -+ 'fibrochondrogenesis 2' SubClassOf 'fibrochondrogenesis' - -Class: http://purl.obolibrary.org/obo/MONDO_0018919 -Label(s): McCune-Albright syndrome -- 'McCune-Albright syndrome' SubClassOf 'syndromic disease' -+ 'McCune-Albright syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0013789 -Label(s): DDOST-congenital disorder of glycosylation -- 'DDOST-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'DDOST-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0013782 -Label(s): pseudohypoaldosteronism type 2E -- 'pseudohypoaldosteronism type 2E' SubClassOf 'pseudohypoaldosteronism type 2' -+ 'pseudohypoaldosteronism type 2E' SubClassOf 'pseudohypoaldosteronism type 2' - -Class: http://purl.obolibrary.org/obo/MONDO_0013778 -Label(s): pseudohypoaldosteronism type 2C -- 'pseudohypoaldosteronism type 2C' SubClassOf 'pseudohypoaldosteronism type 2' -+ 'pseudohypoaldosteronism type 2C' SubClassOf 'pseudohypoaldosteronism type 2' - -Class: http://purl.obolibrary.org/obo/MONDO_0013777 -Label(s): pseudohypoaldosteronism type 2B -- 'pseudohypoaldosteronism type 2B' SubClassOf 'pseudohypoaldosteronism type 2' -+ 'pseudohypoaldosteronism type 2B' SubClassOf 'pseudohypoaldosteronism type 2' - -Class: http://purl.obolibrary.org/obo/MONDO_0013774 -Label(s): trigonocephaly 2 -- 'trigonocephaly 2' SubClassOf 'isolated trigonocephaly' -+ 'trigonocephaly 2' SubClassOf 'isolated trigonocephaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0000631 -Label(s): bone benign neoplasm -- 'bone benign neoplasm' SubClassOf 'bone neoplasm' -+ 'bone benign neoplasm' SubClassOf 'bone neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0013759 -Label(s): melanoma, cutaneous malignant, susceptibility to, 8 -- 'melanoma, cutaneous malignant, susceptibility to, 8' SubClassOf 'susceptibility to familial cutaneous melanoma' -+ 'melanoma, cutaneous malignant, susceptibility to, 8' SubClassOf 'susceptibility to familial cutaneous melanoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0013751 -Label(s): cutis laxa, autosomal dominant 2 -- 'cutis laxa, autosomal dominant 2' SubClassOf 'autosomal dominant cutis laxa' -+ 'cutis laxa, autosomal dominant 2' SubClassOf 'autosomal dominant cutis laxa' - -Class: http://purl.obolibrary.org/obo/MONDO_0003093 -Label(s): mucoepidermoid esophageal carcinoma -- 'mucoepidermoid esophageal carcinoma' SubClassOf 'mucoepidermoid carcinoma' -+ 'mucoepidermoid esophageal carcinoma' SubClassOf 'mucoepidermoid carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0003091 -Label(s): cutaneous mucoepidermoid carcinoma -- 'cutaneous mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' -- 'cutaneous mucoepidermoid carcinoma' SubClassOf 'skin carcinoma' -+ 'cutaneous mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' -+ 'cutaneous mucoepidermoid carcinoma' SubClassOf 'skin carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0003371 -Label(s): breast leiomyosarcoma -- 'breast leiomyosarcoma' SubClassOf 'leiomyosarcoma' -+ 'breast leiomyosarcoma' SubClassOf 'leiomyosarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0013741 -Label(s): familial temporal lobe epilepsy 5 -- 'familial temporal lobe epilepsy 5' SubClassOf 'temporal lobe epilepsy' -+ 'familial temporal lobe epilepsy 5' SubClassOf 'temporal lobe epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0030957 -Label(s): developmental and epileptic encephalopathy 103 -- 'developmental and epileptic encephalopathy 103' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy 103' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0018938 -Label(s): mucopolysaccharidosis type 4 -- 'mucopolysaccharidosis type 4' SubClassOf 'mucopolysaccharidosis' -+ 'mucopolysaccharidosis type 4' SubClassOf 'mucopolysaccharidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0013730 -Label(s): graft versus host disease -- 'graft versus host disease' SubClassOf 'immune system disease' -+ 'graft versus host disease' SubClassOf 'immune system disease' - -Class: http://purl.obolibrary.org/obo/GO_0009235 -Label(s): cobalamin metabolic process -- 'cobalamin metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0008059 -Label(s): Naegeli-Franceschetti-Jadassohn syndrome -- 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0013726 -Label(s): encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 -- 'encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1' SubClassOf 'encephalopathy due to mitochondrial and peroxisomal fission defect' -+ 'encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1' SubClassOf 'encephalopathy due to mitochondrial and peroxisomal fission defect' - -Class: http://purl.obolibrary.org/obo/MONDO_0008061 -Label(s): nail-patella syndrome -- 'nail-patella syndrome' SubClassOf 'syndromic disease' -+ 'nail-patella syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0013711 -Label(s): peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome -- 'peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'autosomal dominant distal myopathy' -- 'peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' -+ 'peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'genetic disorder' -+ 'peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0003053 -Label(s): choroid plexus meningioma -- 'choroid plexus meningioma' SubClassOf 'choroid plexus cancer' -+ 'choroid plexus meningioma' SubClassOf 'choroid plexus cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0800042 -Label(s): restrictive dermopathy 1 -- 'restrictive dermopathy 1' SubClassOf 'restrictive dermopathy' -+ 'restrictive dermopathy 1' SubClassOf 'restrictive dermopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0003047 -Label(s): thymic large cell neuroendocrine carcinoma -- 'thymic large cell neuroendocrine carcinoma' SubClassOf 'thymic neuroendocrine carcinoma' -+ 'thymic large cell neuroendocrine carcinoma' SubClassOf 'thymic neuroendocrine carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0007078 -Label(s): pseudohypoparathyroidism type 1A -- 'pseudohypoparathyroidism type 1A' SubClassOf 'pseudohypoparathyroidism' -+ 'pseudohypoparathyroidism type 1A' SubClassOf 'pseudohypoparathyroidism' - -Class: http://purl.obolibrary.org/obo/MONDO_0000252 -Label(s): inflammatory diarrhea -- 'inflammatory diarrhea' SubClassOf 'diarrheal disease' -+ 'inflammatory diarrhea' SubClassOf 'diarrheal disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0003005 -Label(s): macular retinal edema -- 'macular retinal edema' SubClassOf 'retinal edema' -+ 'macular retinal edema' SubClassOf 'retinal edema' - -Class: http://purl.obolibrary.org/obo/MONDO_0008693 -Label(s): ablepharon macrostomia syndrome -- 'ablepharon macrostomia syndrome' SubClassOf 'syndromic disease' -+ 'ablepharon macrostomia syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0008684 -Label(s): Wolf-Hirschhorn syndrome -- 'Wolf-Hirschhorn syndrome' SubClassOf 'chromosome 4 short arm deletion' -+ 'Wolf-Hirschhorn syndrome' SubClassOf 'chromosome 4 short arm deletion' - -Class: http://purl.obolibrary.org/obo/MONDO_0008682 -Label(s): Denys-Drash syndrome -- 'Denys-Drash syndrome' SubClassOf 'syndromic disease' -+ 'Denys-Drash syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0008681 -Label(s): WAGR syndrome -- 'WAGR syndrome' SubClassOf 'partial deletion of the short arm of chromosome 11' -+ 'WAGR syndrome' SubClassOf 'partial deletion of the short arm of chromosome 11' - -Class: http://purl.obolibrary.org/obo/MONDO_0008678 -Label(s): Williams syndrome -- 'Williams syndrome' SubClassOf 'syndromic disease' -+ 'Williams syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0008676 -Label(s): white sponge nevus 1 -- 'white sponge nevus 1' SubClassOf 'hereditary mucosal leukokeratosis' -+ 'white sponge nevus 1' SubClassOf 'hereditary mucosal leukokeratosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0008673 -Label(s): acrofacial dysostosis, Weyers type -- 'acrofacial dysostosis, Weyers type' SubClassOf 'acrofacial dysostosis' -+ 'acrofacial dysostosis, Weyers type' SubClassOf 'acrofacial dysostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0008670 -Label(s): Waardenburg syndrome type 1 -- 'Waardenburg syndrome type 1' SubClassOf 'Waardenburg syndrome' -+ 'Waardenburg syndrome type 1' SubClassOf 'Waardenburg syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0030895 -Label(s): nephrotic syndrome, type 22 -- 'nephrotic syndrome, type 22' SubClassOf 'familial nephrotic syndrome' -+ 'nephrotic syndrome, type 22' SubClassOf 'familial nephrotic syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0008633 -Label(s): Muckle-Wells syndrome -- 'Muckle-Wells syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' -+ 'Muckle-Wells syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0008622 -Label(s): tricho-retino-dento-digital syndrome -- 'tricho-retino-dento-digital syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'tricho-retino-dento-digital syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0013155 -Label(s): muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 -- 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' -+ 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' - -Class: http://purl.obolibrary.org/obo/MONDO_0011412 -Label(s): familial encephalopathy with neuroserpin inclusion bodies -- 'familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'progressive myoclonus epilepsy' -+ 'familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'progressive myoclonus epilepsy' - -Class: http://www.ebi.ac.uk/efo/EFO_1000203 -Label(s): Conjunctival Disorder -- 'Conjunctival Disorder' SubClassOf 'eye disease' -+ 'Conjunctival Disorder' SubClassOf 'eye disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1000205 -Label(s): Conjunctival Nevus -- 'Conjunctival Nevus' SubClassOf 'Benign Conjunctival Neoplasm' -+ 'Conjunctival Nevus' SubClassOf 'Benign Conjunctival Neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0011424 -Label(s): Carney triad -- 'Carney triad' SubClassOf 'multiple polyglandular tumor' -+ 'Carney triad' SubClassOf 'multiple polyglandular tumor' - -Class: http://purl.obolibrary.org/obo/CL_0000711 -Label(s): cumulus cell -- 'cumulus cell' SubClassOf 'secretory cell' -- 'cumulus cell' SubClassOf 'epithelial cell' -+ 'cumulus cell' SubClassOf 'granulosa cell' ++ 'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Carpenter syndrome' + +Class: http://purl.obolibrary.org/obo/MONDO_0030809 +Label(s): spermatogenic failure 72 +- 'spermatogenic failure 72' SubClassOf 'azoospermia' ++ 'spermatogenic failure 72' SubClassOf 'azoospermia' + +Class: http://purl.obolibrary.org/obo/MONDO_0020175 +Label(s): malignant tumor of palpebral epidermis +- 'malignant tumor of palpebral epidermis' SubClassOf 'palpebral epidermal tumor' +- 'malignant tumor of palpebral epidermis' EquivalentTo 'cancer' and ('disease has location' some 'skin of eyelid') +- 'malignant tumor of palpebral epidermis' SubClassOf 'eyelid cancer' ++ 'malignant tumor of palpebral epidermis' SubClassOf http://www.w3.org/2002/07/owl#Thing + +Class: http://purl.obolibrary.org/obo/HP_0003202 +Label(s): Skeletal muscle atrophy +- 'Skeletal muscle atrophy' SubClassOf 'Abnormality of muscle size' ++ 'Skeletal muscle atrophy' SubClassOf 'Abnormal skeletal muscle morphology' Class: http://purl.obolibrary.org/obo/MONDO_0013685 Label(s): pancreatic cancer, susceptibility to, 4 - 'pancreatic cancer, susceptibility to, 4' SubClassOf 'predisposes towards' some 'Malignant Pancreatic Neoplasm' -+ 'pancreatic cancer, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Malignant Pancreatic Neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0013675 -Label(s): multiple mitochondrial dysfunctions syndrome 2 -- 'multiple mitochondrial dysfunctions syndrome 2' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' -+ 'multiple mitochondrial dysfunctions syndrome 2' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_1000260 -Label(s): Floor of Mouth Mucoepidermoid Carcinoma -- 'Floor of Mouth Mucoepidermoid Carcinoma' SubClassOf 'oral cavity mucoepidermoid carcinoma' -+ 'Floor of Mouth Mucoepidermoid Carcinoma' SubClassOf 'oral cavity mucoepidermoid carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0013626 -Label(s): psoriasis 14, pustular -- 'psoriasis 14, pustular' SubClassOf 'psoriasis' -+ 'psoriasis 14, pustular' SubClassOf 'psoriasis' - -Class: http://purl.obolibrary.org/obo/MONDO_0013624 -Label(s): Rafiq syndrome -- 'Rafiq syndrome' SubClassOf 'autosomal recessive non-syndromic intellectual disability' -+ 'Rafiq syndrome' SubClassOf 'autosomal recessive non-syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0013623 -Label(s): platelet-type bleeding disorder 11 -- 'platelet-type bleeding disorder 11' SubClassOf 'inherited bleeding disorder, platelet-type' -+ 'platelet-type bleeding disorder 11' SubClassOf 'inherited bleeding disorder, platelet-type' - -Class: http://purl.obolibrary.org/obo/MONDO_0013621 -Label(s): LAMB2-related infantile-onset nephrotic syndrome -- 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'familial nephrotic syndrome' -+ 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'familial nephrotic syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_1000283 -Label(s): Grade III Prostatic Intraepithelial Neoplasia -- 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'prostate carcinoma' -+ 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'prostate carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0008185 -Label(s): hereditary chronic pancreatitis -- 'hereditary chronic pancreatitis' SubClassOf 'chronic pancreatitis' -+ 'hereditary chronic pancreatitis' SubClassOf 'chronic pancreatitis' ++ 'pancreatic cancer, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Malignant Pancreatic Neoplasm' Class: http://purl.obolibrary.org/obo/MONDO_0008570 Label(s): thyrotoxic periodic paralysis, susceptibility to, 1 - 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf 'predisposes towards' some 'thyrotoxic periodic paralysis' -+ 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'thyrotoxic periodic paralysis' - -Class: http://purl.obolibrary.org/obo/MONDO_0019455 -Label(s): acute panmyelosis with myelofibrosis -- 'acute panmyelosis with myelofibrosis' SubClassOf 'acute myeloid leukemia by FAB classification' -+ 'acute panmyelosis with myelofibrosis' SubClassOf 'acute myeloid leukemia by FAB classification' - -Class: http://purl.obolibrary.org/obo/MONDO_0002716 -Label(s): childhood spinal cord tumor -- 'childhood spinal cord tumor' SubClassOf 'spinal cord neoplasm' -+ 'childhood spinal cord tumor' SubClassOf 'spinal cord neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0008519 -Label(s): multiple synostoses syndrome 1 -- 'multiple synostoses syndrome 1' SubClassOf 'multiple synostoses syndrome' -+ 'multiple synostoses syndrome 1' SubClassOf 'multiple synostoses syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0013254 -Label(s): microcephaly, seizures, and developmental delay -- 'microcephaly, seizures, and developmental delay' SubClassOf 'developmental and epileptic encephalopathy' -+ 'microcephaly, seizures, and developmental delay' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0020213 -Label(s): stromal corneal dystrophy -- 'stromal corneal dystrophy' SubClassOf 'corneal dystrophy' -+ 'stromal corneal dystrophy' SubClassOf 'corneal dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0002742 -Label(s): cervical mucinous adenocarcinoma -- 'cervical mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' -+ 'cervical mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0003029 -Label(s): acute basophilic leukemia -- 'acute basophilic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' -+ 'acute basophilic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' - -Class: http://purl.obolibrary.org/obo/MONDO_0013597 -Label(s): platelet-type bleeding disorder 14 -- 'platelet-type bleeding disorder 14' SubClassOf 'inherited bleeding disorder, platelet-type' -+ 'platelet-type bleeding disorder 14' SubClassOf 'inherited bleeding disorder, platelet-type' - -Class: http://purl.obolibrary.org/obo/MONDO_0013585 -Label(s): hydrolethalus syndrome 2 -- 'hydrolethalus syndrome 2' SubClassOf 'hydrolethalus syndrome' -+ 'hydrolethalus syndrome 2' SubClassOf 'hydrolethalus syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0013578 -Label(s): DYRK1A-related intellectual disability syndrome -- 'DYRK1A-related intellectual disability syndrome' SubClassOf 'intellectual disability, autosomal dominant' -+ 'DYRK1A-related intellectual disability syndrome' SubClassOf 'intellectual disability, autosomal dominant' - -Class: http://purl.obolibrary.org/obo/MONDO_0013570 -Label(s): combined oxidative phosphorylation defect type 8 -- 'combined oxidative phosphorylation defect type 8' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation defect type 8' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0008210 -Label(s): patterned macular dystrophy 1 -+ 'patterned macular dystrophy 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040055 - -Class: http://purl.obolibrary.org/obo/MONDO_0031084 -Label(s): amelogenesis imperfecta, IIa 1K -- 'amelogenesis imperfecta, IIa 1K' SubClassOf 'amelogenesis imperfecta' -+ 'amelogenesis imperfecta, IIa 1K' SubClassOf 'amelogenesis imperfecta' ++ 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'thyrotoxic periodic paralysis' + +Class: http://purl.obolibrary.org/obo/MONDO_0008567 +Label(s): thyroid cancer, nonmedullary, 1 ++ 'thyroid cancer, nonmedullary, 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100520 Class: http://purl.obolibrary.org/obo/MONDO_0013568 Label(s): sick sinus syndrome 3, susceptibility to - 'sick sinus syndrome 3, susceptibility to' SubClassOf 'predisposes towards' some 'sick sinus syndrome' -+ 'sick sinus syndrome 3, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'sick sinus syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0013563 -Label(s): multiple congenital anomalies-hypotonia-seizures syndrome 1 -- 'multiple congenital anomalies-hypotonia-seizures syndrome 1' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' -+ 'multiple congenital anomalies-hypotonia-seizures syndrome 1' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0013547 -Label(s): mitochondrial complex V (ATP synthase) deficiency nuclear type 3 -- 'mitochondrial complex V (ATP synthase) deficiency nuclear type 3' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' -+ 'mitochondrial complex V (ATP synthase) deficiency nuclear type 3' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' - -Class: http://www.ebi.ac.uk/efo/EFO_0005297 -Label(s): Granulomatosis with Polyangiitis -- 'Granulomatosis with Polyangiitis' SubClassOf 'anti-neutrophil cytoplasmic antibody-associated vasculitis' -+ 'Granulomatosis with Polyangiitis' SubClassOf 'anti-neutrophil cytoplasmic antibody-associated vasculitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0024653 -Label(s): skull neoplasm -- 'skull neoplasm' SubClassOf 'skull disorder' -+ 'skull neoplasm' SubClassOf 'skull disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0030926 -Label(s): spermatogenic failure 51 -- 'spermatogenic failure 51' SubClassOf 'azoospermia' -+ 'spermatogenic failure 51' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0013527 -Label(s): lissencephaly 4 -- 'lissencephaly 4' SubClassOf 'microlissencephaly' -+ 'lissencephaly 4' SubClassOf 'microlissencephaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0013523 -Label(s): Nestor-Guillermo progeria syndrome -- 'Nestor-Guillermo progeria syndrome' SubClassOf 'autosomal recessive disease' -- 'Nestor-Guillermo progeria syndrome' SubClassOf 'progeria' -+ 'Nestor-Guillermo progeria syndrome' SubClassOf 'autosomal recessive disease' -+ 'Nestor-Guillermo progeria syndrome' SubClassOf 'progeria' - -Class: http://purl.obolibrary.org/obo/MONDO_0013522 -Label(s): dyskeratosis congenita, autosomal dominant 3 -- 'dyskeratosis congenita, autosomal dominant 3' SubClassOf 'autosomal dominant disease' -+ 'dyskeratosis congenita, autosomal dominant 3' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0013521 -Label(s): dyskeratosis congenita, autosomal dominant 2 -- 'dyskeratosis congenita, autosomal dominant 2' SubClassOf 'autosomal dominant disease' -+ 'dyskeratosis congenita, autosomal dominant 2' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0008265 -Label(s): polycystic liver disease 1 -- 'polycystic liver disease 1' SubClassOf 'autosomal dominant polycystic liver disease' -+ 'polycystic liver disease 1' SubClassOf 'autosomal dominant polycystic liver disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0008270 -Label(s): polydactyly of a triphalangeal thumb -- 'polydactyly of a triphalangeal thumb' SubClassOf 'preaxial polydactyly of fingers' -+ 'polydactyly of a triphalangeal thumb' SubClassOf 'preaxial polydactyly of fingers' - -Class: http://purl.obolibrary.org/obo/MONDO_0031028 -Label(s): developmental and epileptic encephalopathy 105 with hypopituitarism -- 'developmental and epileptic encephalopathy 105 with hypopituitarism' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy 105 with hypopituitarism' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0013504 -Label(s): spermatogenic failure 8 -- 'spermatogenic failure 8' SubClassOf 'azoospermia' -+ 'spermatogenic failure 8' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0013501 -Label(s): frontotemporal dementia and/or amyotrophic lateral sclerosis 6 -- 'frontotemporal dementia and/or amyotrophic lateral sclerosis 6' SubClassOf 'frontotemporal dementia with motor neuron disease' -+ 'frontotemporal dementia and/or amyotrophic lateral sclerosis 6' SubClassOf 'frontotemporal dementia with motor neuron disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0031014 -Label(s): autoimmune gastritis -- 'autoimmune gastritis' SubClassOf 'gastritis' -+ 'autoimmune gastritis' SubClassOf 'gastritis' - -Class: http://purl.obolibrary.org/obo/MONDO_0008300 -Label(s): Prader-Willi syndrome -- 'Prader-Willi syndrome' SubClassOf 'syndromic disease' -+ 'Prader-Willi syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0008305 -Label(s): Currarino triad -- 'Currarino triad' SubClassOf 'syndromic disease' -+ 'Currarino triad' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0036696 -Label(s): spleen neoplasm -- 'spleen neoplasm' SubClassOf 'splenic disease' -+ 'spleen neoplasm' SubClassOf 'splenic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007747 -Label(s): isolated hyperchlorhidrosis -- 'isolated hyperchlorhidrosis' SubClassOf 'autosomal recessive disease' -+ 'isolated hyperchlorhidrosis' SubClassOf 'autosomal recessive disease' ++ 'sick sinus syndrome 3, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'sick sinus syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0008494 Label(s): cryohydrocytosis -- 'cryohydrocytosis' SubClassOf 'hereditary stomatocytosis' -+ 'cryohydrocytosis' SubClassOf 'hereditary stomatocytosis' ++ 'cryohydrocytosis' SubClassOf 'familial hemolytic anemia' Class: http://purl.obolibrary.org/obo/MONDO_0008493 Label(s): overhydrated hereditary stomatocytosis -- 'overhydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' -+ 'overhydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0018975 -Label(s): neurofibromatosis type 1 -- 'neurofibromatosis type 1' SubClassOf 'rasopathy' -- 'neurofibromatosis type 1' SubClassOf 'neurofibromatosis' -+ 'neurofibromatosis type 1' SubClassOf 'rasopathy' -+ 'neurofibromatosis type 1' SubClassOf 'neurofibromatosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0030977 -Label(s): neuronopathy, distal hereditary motor, autosomal recessive 7 -- 'neuronopathy, distal hereditary motor, autosomal recessive 7' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' -+ 'neuronopathy, distal hereditary motor, autosomal recessive 7' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' - -Class: http://purl.obolibrary.org/obo/MONDO_0008474 -Label(s): spondyloepiphyseal dysplasia tarda, autosomal dominant -- 'spondyloepiphyseal dysplasia tarda, autosomal dominant' SubClassOf 'spondyloepiphyseal dysplasia tarda' -- 'spondyloepiphyseal dysplasia tarda, autosomal dominant' SubClassOf 'autosomal dominant disease' -+ 'spondyloepiphyseal dysplasia tarda, autosomal dominant' SubClassOf 'spondyloepiphyseal dysplasia tarda' -+ 'spondyloepiphyseal dysplasia tarda, autosomal dominant' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0013306 -Label(s): combined oxidative phosphorylation defect type 7 -- 'combined oxidative phosphorylation defect type 7' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation defect type 7' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0008453 -Label(s): adult-onset proximal spinal muscular atrophy, autosomal dominant -- 'adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'spinal muscular atrophy' -- 'adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'hereditary motor neuron disease' -+ 'adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'spinal muscular atrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0008451 -Label(s): neuronopathy, distal hereditary motor, autosomal dominant 1 -- 'neuronopathy, distal hereditary motor, autosomal dominant 1' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' -+ 'neuronopathy, distal hereditary motor, autosomal dominant 1' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' - -Class: http://purl.obolibrary.org/obo/MONDO_0013325 -Label(s): COG5-congenital disorder of glycosylation -- 'COG5-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' -+ 'COG5-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' - -Class: http://purl.obolibrary.org/obo/MONDO_0008428 -Label(s): septooptic dysplasia -- 'septooptic dysplasia' SubClassOf 'syndromic disease' -+ 'septooptic dysplasia' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0008422 -Label(s): autosomal dominant sideroblastic anemia -- 'autosomal dominant sideroblastic anemia' SubClassOf 'autosomal dominant disease' -- 'autosomal dominant sideroblastic anemia' SubClassOf 'inherited sideroblastic anemia' -+ 'autosomal dominant sideroblastic anemia' SubClassOf 'autosomal dominant disease' -+ 'autosomal dominant sideroblastic anemia' SubClassOf 'inherited sideroblastic anemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0013355 -Label(s): congenital dyserythropoietic anemia type 4 -- 'congenital dyserythropoietic anemia type 4' SubClassOf 'congenital dyserythropoietic anemia' -+ 'congenital dyserythropoietic anemia type 4' SubClassOf 'congenital dyserythropoietic anemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0013359 -Label(s): familial hyperaldosteronism type III -- 'familial hyperaldosteronism type III' SubClassOf 'familial hyperaldosteronism' -+ 'familial hyperaldosteronism type III' SubClassOf 'familial hyperaldosteronism' - -Class: http://purl.obolibrary.org/obo/MONDO_0008411 -Label(s): ulnar-mammary syndrome -- 'ulnar-mammary syndrome' SubClassOf 'syndromic disease' -+ 'ulnar-mammary syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0008404 -Label(s): scalp-ear-nipple syndrome -- 'scalp-ear-nipple syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'scalp-ear-nipple syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/GO_0046655 -Label(s): folic acid metabolic process -- 'folic acid metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0011533 -Label(s): temtamy preaxial brachydactyly syndrome -- 'temtamy preaxial brachydactyly syndrome' SubClassOf 'syndromic disease' -+ 'temtamy preaxial brachydactyly syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007796 -Label(s): hypoparathyroidism, familial isolated 1 -- 'hypoparathyroidism, familial isolated 1' SubClassOf 'familial hypoparathyroidism' -+ 'hypoparathyroidism, familial isolated 1' SubClassOf 'familial hypoparathyroidism' - -Class: http://www.ebi.ac.uk/efo/EFO_1000328 -Label(s): Low Grade Fibromyxoid Sarcoma -- 'Low Grade Fibromyxoid Sarcoma' SubClassOf 'fibrosarcoma' -+ 'Low Grade Fibromyxoid Sarcoma' SubClassOf 'fibrosarcoma' ++ 'overhydrated hereditary stomatocytosis' SubClassOf 'familial hemolytic anemia' -Class: http://purl.obolibrary.org/obo/MONDO_0013498 -Label(s): schizophrenia 15 -- 'schizophrenia 15' SubClassOf 'schizophrenia' -- 'schizophrenia 15' SubClassOf 'hereditary neurological disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0013478 -Label(s): PLIN1-related familial partial lipodystrophy -- 'PLIN1-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' -+ 'PLIN1-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0013477 -Label(s): hypertrophic cardiomyopathy 20 -- 'hypertrophic cardiomyopathy 20' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'hypertrophic cardiomyopathy 20' SubClassOf 'familial hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0013474 -Label(s): hypertrophic cardiomyopathy 17 -- 'hypertrophic cardiomyopathy 17' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'hypertrophic cardiomyopathy 17' SubClassOf 'familial hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0013472 -Label(s): fatal infantile hypertonic myofibrillar myopathy -- 'fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'myofibrillar myopathy' -+ 'fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'myofibrillar myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0013470 -Label(s): generalized epilepsy with febrile seizures plus, type 7 -- 'generalized epilepsy with febrile seizures plus, type 7' SubClassOf 'generalized epilepsy with febrile seizures plus' -+ 'generalized epilepsy with febrile seizures plus, type 7' SubClassOf 'generalized epilepsy with febrile seizures plus' - -Class: http://www.ebi.ac.uk/efo/EFO_1000355 -Label(s): Malignant Mesothelioma -+ 'Malignant Mesothelioma' SubClassOf 'cancer' - -Class: http://www.ebi.ac.uk/efo/EFO_1000364 -Label(s): Mast Cell Sarcoma -- 'Mast Cell Sarcoma' SubClassOf 'Mastocytosis' -+ 'Mast Cell Sarcoma' SubClassOf 'Mastocytosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0011582 -Label(s): multiple mitochondrial dysfunctions syndrome 1 -- 'multiple mitochondrial dysfunctions syndrome 1' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' -+ 'multiple mitochondrial dysfunctions syndrome 1' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0013427 -Label(s): immunodeficiency 31B -- 'immunodeficiency 31B' SubClassOf 'autosomal recessive disease' -+ 'immunodeficiency 31B' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0013426 -Label(s): aneurysm-osteoarthritis syndrome -- 'aneurysm-osteoarthritis syndrome' SubClassOf 'Loeys-Dietz syndrome' -+ 'aneurysm-osteoarthritis syndrome' SubClassOf 'Loeys-Dietz syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010631 -Label(s): incontinentia pigmenti -- 'incontinentia pigmenti' SubClassOf 'ectodermal dysplasia syndrome' -- 'incontinentia pigmenti' SubClassOf 'congenital vitreoretinal dysplasia' -+ 'incontinentia pigmenti' SubClassOf 'ectodermal dysplasia syndrome' -+ 'incontinentia pigmenti' SubClassOf 'congenital vitreoretinal dysplasia' +Class: http://purl.obolibrary.org/obo/MONDO_0011535 +Label(s): split hand-foot malformation 4 ++ 'split hand-foot malformation 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040001 Class: http://purl.obolibrary.org/obo/MONDO_0013409 Label(s): age related macular degeneration 5 - 'age related macular degeneration 5' SubClassOf 'predisposes towards' some 'age-related macular degeneration' -+ 'age related macular degeneration 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'age-related macular degeneration' - -Class: http://purl.obolibrary.org/obo/MONDO_0013408 -Label(s): FADD-related immunodeficiency -- 'FADD-related immunodeficiency' SubClassOf 'immunodeficiency disease' -+ 'FADD-related immunodeficiency' SubClassOf 'immunodeficiency disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0013400 -Label(s): Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency -- 'Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'adrenal gland disease' -+ 'Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'adrenal gland disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0036591 -Label(s): adrenal cortex neoplasm -- 'adrenal cortex neoplasm' SubClassOf 'adrenal gland neoplasm' -+ 'adrenal cortex neoplasm' SubClassOf 'adrenal gland neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_0004911 -Label(s): familial hypercholesterolemia -- 'familial hypercholesterolemia' SubClassOf 'familial hyperlipidemia' -+ 'familial hypercholesterolemia' SubClassOf 'familial hyperlipidemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008397 -Label(s): aplasia of lacrimal and salivary glands -- 'aplasia of lacrimal and salivary glands' SubClassOf 'syndromic disease' -+ 'aplasia of lacrimal and salivary glands' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012805 -Label(s): childhood onset GLUT1 deficiency syndrome 2 -- 'childhood onset GLUT1 deficiency syndrome 2' SubClassOf 'GLUT1 deficiency syndrome' -+ 'childhood onset GLUT1 deficiency syndrome 2' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' -+ 'childhood onset GLUT1 deficiency syndrome 2' SubClassOf 'GLUT1 deficiency syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0008389 -Label(s): autosomal dominant Robinow syndrome -- 'autosomal dominant Robinow syndrome' SubClassOf 'Robinow syndrome' -+ 'autosomal dominant Robinow syndrome' SubClassOf 'Robinow syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010651 -Label(s): Menkes disease -- 'Menkes disease' SubClassOf 'disorder of copper metabolism' -+ 'Menkes disease' SubClassOf 'disorder of copper metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0008368 -Label(s): autosomal dominant distal renal tubular acidosis -- 'autosomal dominant distal renal tubular acidosis' SubClassOf 'distal renal tubular acidosis' -+ 'autosomal dominant distal renal tubular acidosis' SubClassOf 'distal renal tubular acidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0000973 -Label(s): external ear lipoma -- 'external ear lipoma' SubClassOf 'lipoma' -+ 'external ear lipoma' SubClassOf 'lipoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0000972 -Label(s): gallbladder lipoma -- 'gallbladder lipoma' SubClassOf 'benign neoplasm of gallbladder' -+ 'gallbladder lipoma' SubClassOf 'benign neoplasm of gallbladder' - -Class: http://purl.obolibrary.org/obo/MONDO_0013410 -Label(s): 46,XY sex reversal 6 -- '46,XY sex reversal 6' SubClassOf '46,XY complete gonadal dysgenesis' -+ '46,XY sex reversal 6' SubClassOf '46,XY complete gonadal dysgenesis' - -Class: http://purl.obolibrary.org/obo/MONDO_0013412 -Label(s): hypertrophic cardiomyopathy 9 -- 'hypertrophic cardiomyopathy 9' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'hypertrophic cardiomyopathy 9' SubClassOf 'familial hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0000952 -Label(s): cancer of long bone of lower limb -- 'cancer of long bone of lower limb' SubClassOf 'cancer affecting bone of limb skeleton' -+ 'cancer of long bone of lower limb' SubClassOf 'cancer affecting bone of limb skeleton' - -Class: http://purl.obolibrary.org/obo/MONDO_0008338 -Label(s): contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A -- 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'autosomal dominant disease' -- 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' -+ 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'autosomal dominant disease' -+ 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0008332 -Label(s): platelet-type von Willebrand disease -- 'platelet-type von Willebrand disease' SubClassOf 'inherited bleeding disorder, platelet-type' -+ 'platelet-type von Willebrand disease' SubClassOf 'inherited bleeding disorder, platelet-type' - -Class: http://purl.obolibrary.org/obo/MONDO_0000944 -Label(s): cerebral artery occlusion -- 'cerebral artery occlusion' SubClassOf 'cerebrovascular disorder' -+ 'cerebral artery occlusion' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040016 - -Class: http://purl.obolibrary.org/obo/MONDO_0008329 -Label(s): autosomal dominant pseudohypoaldosteronism type 1 -- 'autosomal dominant pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism type 1' -+ 'autosomal dominant pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism type 1' - -Class: http://purl.obolibrary.org/obo/MONDO_0008318 -Label(s): Proteus syndrome -- 'Proteus syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' -- 'Proteus syndrome' SubClassOf 'overgrowth syndrome' -+ 'Proteus syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' -+ 'Proteus syndrome' SubClassOf 'overgrowth syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0000928 -Label(s): eyelid melanoma -- 'eyelid melanoma' SubClassOf 'cutaneous melanoma' -+ 'eyelid melanoma' SubClassOf 'cutaneous melanoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0008310 -Label(s): Hutchinson-Gilford progeria syndrome -- 'Hutchinson-Gilford progeria syndrome' SubClassOf 'progeria' -+ 'Hutchinson-Gilford progeria syndrome' SubClassOf 'progeria' - -Class: http://purl.obolibrary.org/obo/MONDO_0008306 -Label(s): ABri amyloidosis -- 'ABri amyloidosis' SubClassOf 'ITM2B amyloidosis' -+ 'ABri amyloidosis' SubClassOf 'ITM2B amyloidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0008301 -Label(s): Guttmacher syndrome -- 'Guttmacher syndrome' SubClassOf 'syndromic disease' -+ 'Guttmacher syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0019675 -Label(s): spondyloepimetaphyseal dysplasia with joint laxity -- 'spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'spondyloepimetaphyseal dysplasia' -+ 'spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'spondyloepimetaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012850 -Label(s): hypophosphatemic nephrolithiasis/osteoporosis 1 -- 'hypophosphatemic nephrolithiasis/osteoporosis 1' SubClassOf 'nephrolithiasis/osteoporosis, hypophosphatemic' -+ 'hypophosphatemic nephrolithiasis/osteoporosis 1' SubClassOf 'nephrolithiasis/osteoporosis, hypophosphatemic' - -Class: http://purl.obolibrary.org/obo/MONDO_0013392 -Label(s): autosomal recessive spinocerebellar ataxia 10 -- 'autosomal recessive spinocerebellar ataxia 10' SubClassOf 'autosomal recessive cerebellar ataxia' -+ 'autosomal recessive spinocerebellar ataxia 10' SubClassOf 'autosomal recessive cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010691 -Label(s): Norrie disease -- 'Norrie disease' SubClassOf 'congenital vitreoretinal dysplasia' -+ 'Norrie disease' SubClassOf 'congenital vitreoretinal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008407 -Label(s): neurogenic scapuloperoneal syndrome, Kaeser type -- 'neurogenic scapuloperoneal syndrome, Kaeser type' SubClassOf 'hereditary motor neuron disease' -+ 'neurogenic scapuloperoneal syndrome, Kaeser type' SubClassOf 'hereditary motor neuron disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0013377 -Label(s): isolated microphthalmia 7 -- 'isolated microphthalmia 7' SubClassOf 'isolated microphthalmia' -+ 'isolated microphthalmia 7' SubClassOf 'isolated microphthalmia' - -Class: http://purl.obolibrary.org/obo/MONDO_0013375 -Label(s): Klippel-Feil syndrome 3, autosomal dominant -- 'Klippel-Feil syndrome 3, autosomal dominant' SubClassOf 'Klippel-Feil syndrome' -+ 'Klippel-Feil syndrome 3, autosomal dominant' SubClassOf 'Klippel-Feil syndrome' ++ 'age related macular degeneration 5' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'age-related macular degeneration' Class: http://purl.obolibrary.org/obo/MONDO_0008419 Label(s): scoliosis, isolated, susceptibility to, 1 - 'scoliosis, isolated, susceptibility to, 1' SubClassOf 'predisposes towards' some 'idiopathic scoliosis' -+ 'scoliosis, isolated, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'idiopathic scoliosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0013369 -Label(s): hypertrophic cardiomyopathy 7 -- 'hypertrophic cardiomyopathy 7' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'hypertrophic cardiomyopathy 7' SubClassOf 'familial hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0013352 -Label(s): intellectual disability-severe speech delay-mild dysmorphism syndrome -- 'intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' -+ 'intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0013349 -Label(s): ALG11-congenital disorder of glycosylation -- 'ALG11-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'ALG11-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' ++ 'scoliosis, isolated, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'idiopathic scoliosis' Class: http://purl.obolibrary.org/obo/MONDO_0013340 Label(s): Parkinson disease 5, autosomal dominant, susceptibility to - 'Parkinson disease 5, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease' -+ 'Parkinson disease 5, autosomal dominant, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Parkinson disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0013327 -Label(s): primary hyperoxaluria type 3 -- 'primary hyperoxaluria type 3' SubClassOf 'primary hyperoxaluria' -+ 'primary hyperoxaluria type 3' SubClassOf 'primary hyperoxaluria' - -Class: http://www.ebi.ac.uk/efo/EFO_0009732 -Label(s): enthesitis-related juvenile idiopathic arthritis -- 'enthesitis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' -+ 'enthesitis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' ++ 'Parkinson disease 5, autosomal dominant, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Parkinson disease' Class: http://purl.obolibrary.org/obo/MONDO_0013311 Label(s): ectodermal dysplasia-syndactyly syndrome - 'ectodermal dysplasia-syndactyly syndrome' SubClassOf 'disease has major feature' some 'Syndactyly' -+ 'ectodermal dysplasia-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Syndactyly' - -Class: http://purl.obolibrary.org/obo/MONDO_0013310 -Label(s): congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency -- 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'congenital adrenal hyperplasia' -+ 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'congenital adrenal hyperplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008476 -Label(s): spondyloepimetaphyseal dysplasia, Strudwick type -- 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'spondyloepimetaphyseal dysplasia' -+ 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'spondyloepimetaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008477 -Label(s): spondylometaphyseal dysplasia, Kozlowski type -- 'spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'spondylometaphyseal dysplasia' -+ 'spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'spondylometaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008478 -Label(s): spondylometaphyseal dysplasia, Schmidt type -- 'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'spondylometaphyseal dysplasia' -+ 'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'spondylometaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008479 -Label(s): spondylometaphyseal dysplasia, 'corner fracture' type -- 'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'type 2 collagenopathy' -- 'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'spondylometaphyseal dysplasia' -+ 'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'type 2 collagenopathy' -+ 'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'spondylometaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0018995 -Label(s): Charcot-Marie-Tooth disease type 4 -- 'Charcot-Marie-Tooth disease type 4' SubClassOf 'Charcot-Marie-Tooth disease' -+ 'Charcot-Marie-Tooth disease type 4' SubClassOf 'Charcot-Marie-Tooth disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0008485 -Label(s): sebocystomatosis -- 'sebocystomatosis' SubClassOf 'sebaceous gland disease' -+ 'sebocystomatosis' SubClassOf 'sebaceous gland disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0018982 -Label(s): Niemann-Pick disease type C -- 'Niemann-Pick disease type C' SubClassOf 'Niemann-Pick disease' -+ 'Niemann-Pick disease type C' SubClassOf 'Niemann-Pick disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0018965 -Label(s): Alport syndrome -- 'Alport syndrome' SubClassOf 'syndromic disease' -+ 'Alport syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0018961 -Label(s): familial melanoma -- 'familial melanoma' SubClassOf 'melanoma' -+ 'familial melanoma' SubClassOf 'melanoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0018954 -Label(s): Loeys-Dietz syndrome -- 'Loeys-Dietz syndrome' SubClassOf 'syndromic disease' -+ 'Loeys-Dietz syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0018945 -Label(s): McLeod neuroacanthocytosis syndrome -- 'McLeod neuroacanthocytosis syndrome' SubClassOf 'neuroacanthocytosis' -+ 'McLeod neuroacanthocytosis syndrome' SubClassOf 'neuroacanthocytosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0008289 -Label(s): brain small vessel disease 1 with or without ocular anomalies -- 'brain small vessel disease 1 with or without ocular anomalies' SubClassOf 'familial porencephaly' -+ 'brain small vessel disease 1 with or without ocular anomalies' SubClassOf 'familial porencephaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0008283 -Label(s): Cronkhite-Canada syndrome -- 'Cronkhite-Canada syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'Cronkhite-Canada syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0018937 -Label(s): mucopolysaccharidosis type 3 -- 'mucopolysaccharidosis type 3' SubClassOf 'mucopolysaccharidosis' -+ 'mucopolysaccharidosis type 3' SubClassOf 'mucopolysaccharidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0018931 -Label(s): mucolipidosis type III, alpha/beta -- 'mucolipidosis type III, alpha/beta' SubClassOf 'lysosomal storage disease with skeletal involvement' -+ 'mucolipidosis type III, alpha/beta' SubClassOf 'lysosomal storage disease with skeletal involvement' - -Class: http://purl.obolibrary.org/obo/MONDO_0008274 -Label(s): polyostotic fibrous dysplasia -- 'polyostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' -+ 'polyostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008272 -Label(s): polysyndactyly 4 -- 'polysyndactyly 4' SubClassOf 'preaxial polydactyly of fingers' -+ 'polysyndactyly 4' SubClassOf 'preaxial polydactyly of fingers' - -Class: http://purl.obolibrary.org/obo/MONDO_0008271 -Label(s): polydactyly of an index finger -- 'polydactyly of an index finger' SubClassOf 'preaxial polydactyly of fingers' -+ 'polydactyly of an index finger' SubClassOf 'preaxial polydactyly of fingers' - -Class: http://purl.obolibrary.org/obo/MONDO_0018925 -Label(s): familial or sporadic hemiplegic migraine -- 'familial or sporadic hemiplegic migraine' SubClassOf 'migraine with aura' -+ 'familial or sporadic hemiplegic migraine' SubClassOf 'migraine with aura' - -Class: http://purl.obolibrary.org/obo/MONDO_0008269 -Label(s): polydactyly of a biphalangeal thumb -- 'polydactyly of a biphalangeal thumb' SubClassOf 'preaxial polydactyly of fingers' -+ 'polydactyly of a biphalangeal thumb' SubClassOf 'preaxial polydactyly of fingers' - -Class: http://purl.obolibrary.org/obo/MONDO_0008267 -Label(s): orofaciodigital syndrome V -- 'orofaciodigital syndrome V' SubClassOf 'orofaciodigital syndrome' -+ 'orofaciodigital syndrome V' SubClassOf 'orofaciodigital syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0018911 -Label(s): maturity-onset diabetes of the young -- 'maturity-onset diabetes of the young' SubClassOf 'monogenic diabetes' -+ 'maturity-onset diabetes of the young' SubClassOf 'monogenic diabetes' - -Class: http://purl.obolibrary.org/obo/MONDO_0000866 -Label(s): hereditary myoglobinuria -- 'hereditary myoglobinuria' SubClassOf 'myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0008250 -Label(s): isolated growth hormone deficiency type II -- 'isolated growth hormone deficiency type II' SubClassOf 'isolated congenital growth hormone deficiency' -+ 'isolated growth hormone deficiency type II' SubClassOf 'isolated congenital growth hormone deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0000863 -Label(s): myopathy, lactic acidosis, and sideroblastic anemia -- 'myopathy, lactic acidosis, and sideroblastic anemia' SubClassOf 'inborn mitochondrial myopathy' -+ 'myopathy, lactic acidosis, and sideroblastic anemia' SubClassOf 'inborn mitochondrial myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0013526 -Label(s): progressive myoclonic epilepsy type 6 -- 'progressive myoclonic epilepsy type 6' SubClassOf 'progressive myoclonus epilepsy' -+ 'progressive myoclonic epilepsy type 6' SubClassOf 'progressive myoclonus epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0008234 -Label(s): multiple endocrine neoplasia type 2A -- 'multiple endocrine neoplasia type 2A' SubClassOf 'multiple endocrine neoplasia type 2' -+ 'multiple endocrine neoplasia type 2A' SubClassOf 'multiple endocrine neoplasia type 2' - -Class: http://purl.obolibrary.org/obo/MONDO_0031021 -Label(s): developmental and epileptic encephalopathy 104 -- 'developmental and epileptic encephalopathy 104' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy 104' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0008224 -Label(s): hyperkalemic periodic paralysis -- 'hyperkalemic periodic paralysis' SubClassOf 'familial periodic paralysis' -+ 'hyperkalemic periodic paralysis' SubClassOf 'familial periodic paralysis' - -Class: http://purl.obolibrary.org/obo/MONDO_0000837 -Label(s): bone resorption disease -- 'bone resorption disease' SubClassOf 'bone remodeling disease' -+ 'bone resorption disease' SubClassOf 'bone remodeling disease' ++ 'ectodermal dysplasia-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Syndactyly' Class: http://purl.obolibrary.org/obo/MONDO_0000836 Label(s): disease of bone structure - 'disease of bone structure' SubClassOf 'disease has major feature' some 'Abnormal skeletal morphology' -+ 'disease of bone structure' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal skeletal morphology' - -Class: http://purl.obolibrary.org/obo/MONDO_0008221 -Label(s): prolidase deficiency -- 'prolidase deficiency' SubClassOf 'inborn disorder of peptide metabolism' -+ 'prolidase deficiency' SubClassOf 'inborn disorder of peptide metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0000833 -Label(s): bone remodeling disease -- 'bone remodeling disease' SubClassOf 'bone disease' -+ 'bone remodeling disease' SubClassOf 'bone disease' ++ 'disease of bone structure' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal skeletal morphology' Class: http://purl.obolibrary.org/obo/MONDO_0019002 Label(s): Lhermitte-Duclos disease - 'Lhermitte-Duclos disease' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Lhermitte-Duclos disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0008207 -Label(s): chondromalacia patellae -- 'chondromalacia patellae' SubClassOf 'chondromalacia' -+ 'chondromalacia patellae' SubClassOf 'chondromalacia' - -Class: http://purl.obolibrary.org/obo/MONDO_0019004 -Label(s): kidney Wilms tumor -- 'kidney Wilms tumor' SubClassOf 'kidney cancer' -+ 'kidney Wilms tumor' SubClassOf 'kidney cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0000816 -Label(s): abdominal obesity-metabolic syndrome -- 'abdominal obesity-metabolic syndrome' SubClassOf 'syndromic disease' -+ 'abdominal obesity-metabolic syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0011629 -Label(s): MOGS-congenital disorder of glycosylation -- 'MOGS-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' -+ 'MOGS-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' - -Class: http://purl.obolibrary.org/obo/MONDO_0013599 -Label(s): autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome -- 'autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome' SubClassOf 'chronic mucocutaneous candidiasis' -+ 'autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome' SubClassOf 'chronic mucocutaneous candidiasis' - -Class: http://purl.obolibrary.org/obo/MONDO_0013286 -Label(s): immunodeficiency, common variable, 6 -- 'immunodeficiency, common variable, 6' SubClassOf 'common variable immunodeficiency' -+ 'immunodeficiency, common variable, 6' SubClassOf 'common variable immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0013284 -Label(s): immunodeficiency, common variable, 4 -- 'immunodeficiency, common variable, 4' SubClassOf 'common variable immunodeficiency' -+ 'immunodeficiency, common variable, 4' SubClassOf 'common variable immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0013281 -Label(s): COG4-congenital disorder of glycosylation -- 'COG4-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' -+ 'COG4-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' - -Class: http://purl.obolibrary.org/obo/MONDO_0013278 -Label(s): lymphatic malformation 3 -- 'lymphatic malformation 3' SubClassOf 'lymphatic malformation' -+ 'lymphatic malformation 3' SubClassOf 'lymphatic malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0010490 -Label(s): SSR4-congenital disorder of glycosylation -- 'SSR4-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'SSR4-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0013268 -Label(s): frontonasal dysplasia with alopecia and genital anomaly -- 'frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'frontonasal dysplasia' -+ 'frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'frontonasal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008553 -Label(s): platelet-type bleeding disorder 17 -- 'platelet-type bleeding disorder 17' SubClassOf 'inherited bleeding disorder, platelet-type' -+ 'platelet-type bleeding disorder 17' SubClassOf 'inherited bleeding disorder, platelet-type' - -Class: http://purl.obolibrary.org/obo/MONDO_0013223 -Label(s): autosomal recessive spondylometaphyseal dysplasia, Megarbane type -- 'autosomal recessive spondylometaphyseal dysplasia, Megarbane type' SubClassOf 'spondylometaphyseal dysplasia' -+ 'autosomal recessive spondylometaphyseal dysplasia, Megarbane type' SubClassOf 'spondylometaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0013222 -Label(s): Miyoshi muscular dystrophy 3 -- 'Miyoshi muscular dystrophy 3' SubClassOf 'Miyoshi myopathy' -+ 'Miyoshi muscular dystrophy 3' SubClassOf 'Miyoshi myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0013208 -Label(s): cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome -- 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'hypermanganesemia with dystonia' -+ 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'hypermanganesemia with dystonia' - -Class: http://purl.obolibrary.org/obo/MONDO_0013200 -Label(s): hypertrophic cardiomyopathy 15 -- 'hypertrophic cardiomyopathy 15' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'hypertrophic cardiomyopathy 15' SubClassOf 'familial hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0018894 -Label(s): distal hereditary motor neuropathy -- 'distal hereditary motor neuropathy' SubClassOf 'hereditary motor neuron disease' -+ 'distal hereditary motor neuropathy' SubClassOf 'hereditary motor neuron disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0018889 -Label(s): hyaline body myopathy -- 'hyaline body myopathy' SubClassOf 'congenital myopathy' -- 'hyaline body myopathy' SubClassOf 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' -+ 'hyaline body myopathy' SubClassOf 'congenital myopathy' -+ 'hyaline body myopathy' SubClassOf 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' - -Class: http://purl.obolibrary.org/obo/MONDO_0008592 -Label(s): tricho-dento-osseous syndrome -- 'tricho-dento-osseous syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'tricho-dento-osseous syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0018883 -Label(s): Berardinelli-Seip congenital lipodystrophy -- 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'hereditary lipodystrophy' -+ 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'hereditary lipodystrophy' ++ 'Lhermitte-Duclos disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' + +Class: http://purl.obolibrary.org/obo/MONDO_0013296 +Label(s): myeloid neoplasm associated with FGFR1 rearrangement +- 'myeloid neoplasm associated with FGFR1 rearrangement' SubClassOf 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' ++ 'myeloid neoplasm associated with FGFR1 rearrangement' SubClassOf 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' Class: http://purl.obolibrary.org/obo/MONDO_0008597 Label(s): trichorhinophalangeal syndrome, type III - 'trichorhinophalangeal syndrome, type III' SubClassOf 'autosomal dominant disease' - 'trichorhinophalangeal syndrome, type III' SubClassOf 'trichorhinophalangeal syndrome' -+ 'trichorhinophalangeal syndrome, type III' SubClassOf 'autosomal dominant disease' -+ 'trichorhinophalangeal syndrome, type III' SubClassOf 'trichorhinophalangeal syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0004719 -Label(s): pemphigus vulgaris -- 'pemphigus vulgaris' SubClassOf 'pemphigus' -+ 'pemphigus vulgaris' SubClassOf 'pemphigus' - -Class: http://purl.obolibrary.org/obo/MONDO_0018868 -Label(s): metachromatic leukodystrophy -- 'metachromatic leukodystrophy' SubClassOf 'sphingolipidosis' -- 'metachromatic leukodystrophy' SubClassOf 'leukodystrophy' -+ 'metachromatic leukodystrophy' SubClassOf 'sphingolipidosis' -+ 'metachromatic leukodystrophy' SubClassOf 'leukodystrophy' ++ 'trichorhinophalangeal syndrome, type III' SubClassOf http://www.w3.org/2002/07/owl#Thing Class: http://purl.obolibrary.org/obo/MONDO_0018861 Label(s): Zellweger-like syndrome without peroxisomal anomalies - 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'disease shares features of' some 'Zellweger spectrum disorders' -+ 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Zellweger spectrum disorders' - -Class: http://purl.obolibrary.org/obo/MONDO_0007848 -Label(s): autosomal dominant keratitis -- 'autosomal dominant keratitis' SubClassOf 'autosomal dominant disease' -- 'autosomal dominant keratitis' SubClassOf 'keratitis' -+ 'autosomal dominant keratitis' SubClassOf 'autosomal dominant disease' -+ 'autosomal dominant keratitis' SubClassOf 'keratitis' - -Class: http://www.ebi.ac.uk/efo/EFO_0004708 -Label(s): nodular sclerosis Hodgkin lymphoma -- 'nodular sclerosis Hodgkin lymphoma' SubClassOf 'classic Hodgkin lymphoma' -+ 'nodular sclerosis Hodgkin lymphoma' SubClassOf 'classic Hodgkin lymphoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0018855 -Label(s): keratosis pilaris atrophicans -- 'keratosis pilaris atrophicans' SubClassOf 'keratosis pilaris' -+ 'keratosis pilaris atrophicans' SubClassOf 'keratosis pilaris' - -Class: http://purl.obolibrary.org/obo/MONDO_0018848 -Label(s): IgG4-related retroperitoneal fibrosis -- 'IgG4-related retroperitoneal fibrosis' SubClassOf 'IgG4-related disease' -+ 'IgG4-related retroperitoneal fibrosis' SubClassOf 'IgG4-related disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0018843 -Label(s): embryonal carcinoma of the central nervous system -- 'embryonal carcinoma of the central nervous system' SubClassOf 'central nervous system nongerminomatous germ cell tumor' -+ 'embryonal carcinoma of the central nervous system' SubClassOf 'central nervous system nongerminomatous germ cell tumor' - -Class: http://purl.obolibrary.org/obo/MONDO_0008183 -Label(s): annular pancreas -- 'annular pancreas' SubClassOf 'pancreas disease' -+ 'annular pancreas' SubClassOf 'pancreas disease' ++ 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Zellweger spectrum disorders' Class: http://purl.obolibrary.org/obo/MONDO_0018838 Label(s): lissencephaly spectrum disorders - 'lissencephaly spectrum disorders' SubClassOf 'disease has major feature' some 'Lissencephaly' -+ 'lissencephaly spectrum disorders' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Lissencephaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0007859 -Label(s): palmoplantar keratoderma i, striate, focal, or diffuse -- 'palmoplantar keratoderma i, striate, focal, or diffuse' SubClassOf 'hereditary palmoplantar keratoderma' -+ 'palmoplantar keratoderma i, striate, focal, or diffuse' SubClassOf 'hereditary palmoplantar keratoderma' - -Class: http://purl.obolibrary.org/obo/MONDO_0008178 -Label(s): inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 -- 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1' SubClassOf 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' -+ 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1' SubClassOf 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' - -Class: http://purl.obolibrary.org/obo/MONDO_0025353 -Label(s): developmental and epileptic encephalopathy, 90 -- 'developmental and epileptic encephalopathy, 90' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 90' SubClassOf 'developmental and epileptic encephalopathy' ++ 'lissencephaly spectrum disorders' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Lissencephaly' Class: http://purl.obolibrary.org/obo/MONDO_0018822 Label(s): global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome - 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' ++ 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0008162 Label(s): otitis media, susceptibility to - 'otitis media, susceptibility to' SubClassOf 'predisposes towards' some 'Otitis media' - 'otitis media, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Otitis media') -+ 'otitis media, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Otitis media' -+ 'otitis media, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Otitis media') - -Class: http://purl.obolibrary.org/obo/MONDO_0000774 -Label(s): autoimmune neuropathy -- 'autoimmune neuropathy' SubClassOf 'autoimmune disorder of peripheral nervous system' -+ 'autoimmune neuropathy' SubClassOf 'autoimmune disorder of peripheral nervous system' - -Class: http://purl.obolibrary.org/obo/MONDO_0013612 -Label(s): geleophysic dysplasia 2 -- 'geleophysic dysplasia 2' SubClassOf 'geleophysic dysplasia' -+ 'geleophysic dysplasia 2' SubClassOf 'geleophysic dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008157 -Label(s): Buschke-Ollendorff syndrome -- 'Buschke-Ollendorff syndrome' SubClassOf 'syndromic disease' -+ 'Buschke-Ollendorff syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0008156 -Label(s): autosomal dominant osteopetrosis 2 -- 'autosomal dominant osteopetrosis 2' SubClassOf 'autosomal dominant osteopetrosis' -+ 'autosomal dominant osteopetrosis 2' SubClassOf 'autosomal dominant osteopetrosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0008155 -Label(s): osteomesopyknosis -- 'osteomesopyknosis' SubClassOf 'osteopetrosis' -+ 'osteomesopyknosis' SubClassOf 'osteopetrosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0008145 -Label(s): Ollier disease -- 'Ollier disease' SubClassOf 'bone neoplasm' -+ 'Ollier disease' SubClassOf 'bone neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0008137 -Label(s): orofaciodigital syndrome X -- 'orofaciodigital syndrome X' SubClassOf 'orofaciodigital syndrome' -+ 'orofaciodigital syndrome X' SubClassOf 'orofaciodigital syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0013644 -Label(s): Charcot-Marie-Tooth disease axonal type 2O -+ 'Charcot-Marie-Tooth disease axonal type 2O' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040031 - -Class: http://purl.obolibrary.org/obo/MONDO_0008123 -Label(s): autosomal dominant omodysplasia -- 'autosomal dominant omodysplasia' SubClassOf 'autosomal dominant disease' -- 'autosomal dominant omodysplasia' SubClassOf 'omodysplasia' -+ 'autosomal dominant omodysplasia' SubClassOf 'autosomal dominant disease' -+ 'autosomal dominant omodysplasia' SubClassOf 'omodysplasia' - -Class: http://www.ebi.ac.uk/efo/EFO_1000597 -Label(s): Tonsillar Squamous Cell Carcinoma -- 'Tonsillar Squamous Cell Carcinoma' SubClassOf 'oropharynx squamous cell carcinoma' -- 'Tonsillar Squamous Cell Carcinoma' SubClassOf 'tonsil carcinoma' -+ 'Tonsillar Squamous Cell Carcinoma' SubClassOf 'oropharynx squamous cell carcinoma' -+ 'Tonsillar Squamous Cell Carcinoma' SubClassOf 'tonsil carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0000700 -Label(s): familial hemiplegic migraine -- 'familial hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' -+ 'familial hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' - -Class: http://purl.obolibrary.org/obo/MONDO_0031169 -Label(s): odontochondrodysplasia -+ 'odontochondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040009 - -Class: http://purl.obolibrary.org/obo/MONDO_0007888 -Label(s): hereditary leiomyomatosis and renal cell cancer -- 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'hereditary neoplastic syndrome' -+ 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'hereditary neoplastic syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0002501 -Label(s): anaplastic oligodendroglioma -- 'anaplastic oligodendroglioma' SubClassOf 'anaplastic cancer' -+ 'anaplastic oligodendroglioma' SubClassOf 'anaplastic cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0002959 -Label(s): radiculopathy -- 'radiculopathy' SubClassOf 'peripheral nervous system disease' -+ 'radiculopathy' SubClassOf 'peripheral nervous system disease' - -Class: http://purl.obolibrary.org/obo/GO_1903510 -Label(s): mucopolysaccharide metabolic process -- 'mucopolysaccharide metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0013197 -Label(s): hypertrophic cardiomyopathy 14 -- 'hypertrophic cardiomyopathy 14' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'hypertrophic cardiomyopathy 14' SubClassOf 'familial hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0013195 -Label(s): hypertrophic cardiomyopathy 13 -- 'hypertrophic cardiomyopathy 13' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'hypertrophic cardiomyopathy 13' SubClassOf 'familial hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0008471 -Label(s): spondyloepiphyseal dysplasia congenita -- 'spondyloepiphyseal dysplasia congenita' SubClassOf 'spondyloepiphyseal dysplasia' -+ 'spondyloepiphyseal dysplasia congenita' SubClassOf 'spondyloepiphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008603 -Label(s): trigonocephaly 1 -- 'trigonocephaly 1' SubClassOf 'isolated trigonocephaly' -+ 'trigonocephaly 1' SubClassOf 'isolated trigonocephaly' ++ 'otitis media, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Otitis media' ++ 'otitis media, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Otitis media') Class: http://purl.obolibrary.org/obo/MONDO_0020460 Label(s): acquired von willebrand syndrome - 'acquired von willebrand syndrome' SubClassOf 'disease shares features of' some 'hereditary von Willebrand disease' -+ 'acquired von willebrand syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'hereditary von Willebrand disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0013173 -Label(s): intellectual disability, autosomal recessive 13 -- 'intellectual disability, autosomal recessive 13' SubClassOf 'autosomal recessive non-syndromic intellectual disability' -+ 'intellectual disability, autosomal recessive 13' SubClassOf 'autosomal recessive non-syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0033838 -Label(s): radiation-induced plexopathy -- 'radiation-induced plexopathy' SubClassOf 'radiation-induced disorder' -+ 'radiation-induced plexopathy' SubClassOf 'radiation-induced disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0013166 -Label(s): GABA aminotransaminase deficiency -- 'GABA aminotransaminase deficiency' SubClassOf 'gamma-amino butyric acid metabolism disorder' -+ 'GABA aminotransaminase deficiency' SubClassOf 'gamma-amino butyric acid metabolism disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0013164 -Label(s): beta-ureidopropionase deficiency -- 'beta-ureidopropionase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' -+ 'beta-ureidopropionase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0013160 -Label(s): muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 -- 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' -+ 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' - -Class: http://purl.obolibrary.org/obo/MONDO_0013159 -Label(s): muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 -- 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' -+ 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' - -Class: http://purl.obolibrary.org/obo/MONDO_0008637 -Label(s): bifid uvula -- 'bifid uvula' SubClassOf 'cleft palate' -+ 'bifid uvula' SubClassOf 'cleft palate' - -Class: http://purl.obolibrary.org/obo/MONDO_0033201 -Label(s): hearing loss, autosomal recessive 57 -- 'hearing loss, autosomal recessive 57' SubClassOf 'hearing loss, autosomal recessive' -+ 'hearing loss, autosomal recessive 57' SubClassOf 'hearing loss, autosomal recessive' - -Class: http://purl.obolibrary.org/obo/MONDO_0020480 -Label(s): sulfite oxidase deficiency due to molybdenum cofactor deficiency -- 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'encephalopathy due to sulfite oxidase deficiency' -+ 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'encephalopathy due to sulfite oxidase deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0008647 -Label(s): hypertrophic cardiomyopathy 1 -- 'hypertrophic cardiomyopathy 1' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'hypertrophic cardiomyopathy 1' SubClassOf 'familial hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0013139 -Label(s): neutropenia, severe congenital, 2, autosomal dominant -- 'neutropenia, severe congenital, 2, autosomal dominant' SubClassOf 'autosomal dominant severe congenital neutropenia' -+ 'neutropenia, severe congenital, 2, autosomal dominant' SubClassOf 'autosomal dominant severe congenital neutropenia' - -Class: http://purl.obolibrary.org/obo/MONDO_0013137 -Label(s): choroidal dystrophy, central areolar 2 -+ 'choroidal dystrophy, central areolar 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040055 -+ 'choroidal dystrophy, central areolar 2' SubClassOf 'neurovascular disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0013130 -Label(s): isolated microphthalmia 4 -- 'isolated microphthalmia 4' SubClassOf 'isolated microphthalmia' -+ 'isolated microphthalmia 4' SubClassOf 'isolated microphthalmia' ++ 'acquired von willebrand syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'hereditary von Willebrand disease' Class: http://purl.obolibrary.org/obo/MONDO_0013125 Label(s): CLAPO syndrome -- 'CLAPO syndrome' SubClassOf 'overgrowth syndrome' -+ 'CLAPO syndrome' SubClassOf 'overgrowth syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0859317 -Label(s): pseudohypoaldosteronism, type IB2, autosomal recessive -- 'pseudohypoaldosteronism, type IB2, autosomal recessive' SubClassOf 'inherited pseudohypoaldosteronism' -+ 'pseudohypoaldosteronism, type IB2, autosomal recessive' SubClassOf 'pseudohypoaldosteronism type 1' - -Class: http://purl.obolibrary.org/obo/MONDO_0013110 -Label(s): neurodegenerative syndrome due to cerebral folate transport deficiency -- 'neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'disorder of folate metabolism and transport' -+ 'neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'disorder of folate metabolism and transport' - -Class: http://purl.obolibrary.org/obo/MONDO_0018768 -Label(s): familial cold autoinflammatory syndrome -- 'familial cold autoinflammatory syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' -+ 'familial cold autoinflammatory syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' ++ 'CLAPO syndrome' SubClassOf 'genetic disorder' Class: http://purl.obolibrary.org/obo/MONDO_0018763 Label(s): tubulinopathy-associated dysgyria - 'tubulinopathy-associated dysgyria' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'tubulinopathy-associated dysgyria' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0008082 -Label(s): multiple endocrine neoplasia type 2B -- 'multiple endocrine neoplasia type 2B' SubClassOf 'multiple endocrine neoplasia type 2' -+ 'multiple endocrine neoplasia type 2B' SubClassOf 'multiple endocrine neoplasia type 2' - -Class: http://purl.obolibrary.org/obo/MONDO_0000688 -Label(s): inborn organic aciduria -- 'inborn organic aciduria' SubClassOf 'inborn disorder of amino acid metabolism' -+ 'inborn organic aciduria' SubClassOf 'inborn disorder of amino acid metabolism' ++ 'tubulinopathy-associated dysgyria' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0000685 Label(s): visual agnosia - 'visual agnosia' SubClassOf 'disease has major feature' some 'Visual agnosia' -+ 'visual agnosia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Visual agnosia' ++ 'visual agnosia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Visual agnosia' + +Class: http://purl.obolibrary.org/obo/OBI_0000981 +Label(s): agar stab specimen +- 'frozen specimen' DisjointWith 'agar stab specimen' +- 'fresh specimen' DisjointWith 'agar stab specimen' +- 'paraffin specimen' DisjointWith 'agar stab specimen' Class: http://purl.obolibrary.org/obo/MONDO_0013713 Label(s): dengue virus, susceptibility to - 'dengue virus, susceptibility to' SubClassOf 'predisposes towards' some 'dengue disease' - 'dengue virus, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'dengue disease') -+ 'dengue virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'dengue disease' -+ 'dengue virus, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'dengue disease') ++ 'dengue virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'dengue disease' ++ 'dengue virus, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'dengue disease') -Class: http://purl.obolibrary.org/obo/MONDO_0008056 -Label(s): myotonic dystrophy type 1 -- 'myotonic dystrophy type 1' SubClassOf 'myotonic dystrophy' -+ 'myotonic dystrophy type 1' SubClassOf 'myotonic dystrophy' +Class: http://purl.obolibrary.org/obo/MONDO_0018702 +Label(s): Castleman-Kojima disease +- 'Castleman-Kojima disease' SubClassOf 'type II hypersensitivity reaction disease' ++ 'Castleman-Kojima disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0035838 ++ 'Castleman-Kojima disease' SubClassOf 'autoimmune lymphoproliferative syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0013722 Label(s): hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism - 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'disease has major feature' some 'central nervous system malformation' -- 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'leukodystrophy' -+ 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700277 -+ 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700282 -+ 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0008048 -Label(s): autosomal dominant centronuclear myopathy -- 'autosomal dominant centronuclear myopathy' SubClassOf 'autosomal dominant disease' -- 'autosomal dominant centronuclear myopathy' SubClassOf 'centronuclear myopathy' -+ 'autosomal dominant centronuclear myopathy' SubClassOf 'autosomal dominant disease' -+ 'autosomal dominant centronuclear myopathy' SubClassOf 'centronuclear myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0008046 -Label(s): autosomal dominant myoglobinuria -- 'autosomal dominant myoglobinuria' SubClassOf 'hereditary myoglobinuria' -- 'autosomal dominant myoglobinuria' SubClassOf 'hereditary skeletal muscle disorder' -- 'autosomal dominant myoglobinuria' SubClassOf 'inborn errors of metabolism' -+ 'autosomal dominant myoglobinuria' SubClassOf 'inborn errors of metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0013731 -Label(s): MEGF10-related myopathy -- 'MEGF10-related myopathy' SubClassOf 'congenital myopathy' -+ 'MEGF10-related myopathy' SubClassOf 'congenital myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0000644 -Label(s): cervical benign neoplasm -- 'cervical benign neoplasm' SubClassOf 'uterine benign neoplasm' -+ 'cervical benign neoplasm' SubClassOf 'uterine benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0008026 -Label(s): autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures -- 'autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'autosomal dominant childhood-onset proximal spinal muscular atrophy' -+ 'autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'autosomal dominant childhood-onset proximal spinal muscular atrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0000634 -Label(s): thoracic benign neoplasm -- 'thoracic benign neoplasm' SubClassOf 'benign neoplasm' -+ 'thoracic benign neoplasm' SubClassOf 'benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0008016 -Label(s): trismus-pseudocamptodactyly syndrome -- 'trismus-pseudocamptodactyly syndrome' SubClassOf 'distal arthrogryposis' -+ 'trismus-pseudocamptodactyly syndrome' SubClassOf 'distal arthrogryposis' - -Class: http://purl.obolibrary.org/obo/MONDO_0000625 -Label(s): benign male reproductive system neoplasm -- 'benign male reproductive system neoplasm' SubClassOf 'male reproductive system disease' -+ 'benign male reproductive system neoplasm' SubClassOf 'male reproductive system disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1000505 -Label(s): Rectal Tubulovillous Adenoma -- 'Rectal Tubulovillous Adenoma' SubClassOf 'colorectal tubulovillous adenoma' -+ 'Rectal Tubulovillous Adenoma' SubClassOf 'colorectal tubulovillous adenoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000509 -Label(s): Retinal Neoplasm -- 'Retinal Neoplasm' SubClassOf 'retinopathy' -+ 'Retinal Neoplasm' SubClassOf 'retinopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0013781 -Label(s): pseudohypoaldosteronism type 2D -- 'pseudohypoaldosteronism type 2D' SubClassOf 'pseudohypoaldosteronism type 2' -+ 'pseudohypoaldosteronism type 2D' SubClassOf 'pseudohypoaldosteronism type 2' - -Class: http://purl.obolibrary.org/obo/MONDO_0011735 -Label(s): hyper-IgM syndrome type 3 -- 'hyper-IgM syndrome type 3' SubClassOf 'hyper-IgM syndrome' -+ 'hyper-IgM syndrome type 3' SubClassOf 'hyper-IgM syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011738 -Label(s): bilateral frontoparietal polymicrogyria -- 'bilateral frontoparietal polymicrogyria' SubClassOf 'bilateral polymicrogyria' -+ 'bilateral frontoparietal polymicrogyria' SubClassOf 'bilateral polymicrogyria' - -Class: http://purl.obolibrary.org/obo/MONDO_0013093 -Label(s): glioma susceptibility 3 -- 'glioma susceptibility 3' SubClassOf 'glioma susceptibility' -+ 'glioma susceptibility 3' SubClassOf 'glioma susceptibility' ++ 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0013088 Label(s): follicular lymphoma, susceptibility to, 1 - 'follicular lymphoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'follicular lymphoma' -+ 'follicular lymphoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'follicular lymphoma' ++ 'follicular lymphoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'follicular lymphoma' Class: http://purl.obolibrary.org/obo/MONDO_0013083 Label(s): neuroblastoma, susceptibility to, 3 - 'neuroblastoma, susceptibility to, 3' SubClassOf 'predisposes towards' some 'neuroblastoma' -+ 'neuroblastoma, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neuroblastoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0011765 -Label(s): multiple epiphyseal dysplasia type 5 -- 'multiple epiphyseal dysplasia type 5' SubClassOf 'multiple epiphyseal dysplasia' -+ 'multiple epiphyseal dysplasia type 5' SubClassOf 'multiple epiphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008706 -Label(s): Ackerman syndrome -- 'Ackerman syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'Ackerman syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0013070 -Label(s): spermatogenic failure 7 -- 'spermatogenic failure 7' SubClassOf 'azoospermia' -+ 'spermatogenic failure 7' SubClassOf 'azoospermia' - -Class: http://www.ebi.ac.uk/efo/EFO_1000555 -Label(s): Submandibular Gland Adenoid Cystic Carcinoma -- 'Submandibular Gland Adenoid Cystic Carcinoma' SubClassOf 'major salivary gland adenoid cystic carcinoma' -+ 'Submandibular Gland Adenoid Cystic Carcinoma' SubClassOf 'major salivary gland adenoid cystic carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0008727 -Label(s): congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency -- 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'congenital adrenal hyperplasia' -+ 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'congenital adrenal hyperplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008729 -Label(s): congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency -- 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' -+ 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0013058 -Label(s): cystic leukoencephalopathy without megalencephaly -- 'cystic leukoencephalopathy without megalencephaly' SubClassOf 'leukodystrophy' -+ 'cystic leukoencephalopathy without megalencephaly' SubClassOf 'leukodystrophy' ++ 'neuroblastoma, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neuroblastoma' Class: http://purl.obolibrary.org/obo/MONDO_0008738 Label(s): aganglionosis, total intestinal - 'aganglionosis, total intestinal' SubClassOf 'disease shares features of' some 'Hirschsprung disease' -+ 'aganglionosis, total intestinal' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Hirschsprung disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0013049 -Label(s): DPM3-congenital disorder of glycosylation -- 'DPM3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'DPM3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0013047 -Label(s): glycogen storage disease due to lactate dehydrogenase M-subunit deficiency -- 'glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'disorder of glycogen metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0008747 -Label(s): oculocutaneous albinism type 3 -- 'oculocutaneous albinism type 3' SubClassOf 'oculocutaneous albinism' -+ 'oculocutaneous albinism type 3' SubClassOf 'oculocutaneous albinism' - -Class: http://purl.obolibrary.org/obo/GO_0000050 -Label(s): urea cycle -- 'urea cycle' SubClassOf 'organonitrogen compound biosynthetic process' -+ 'urea cycle' SubClassOf 'biosynthetic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0013035 -Label(s): orofaciodigital syndrome XI -- 'orofaciodigital syndrome XI' SubClassOf 'orofaciodigital syndrome' -+ 'orofaciodigital syndrome XI' SubClassOf 'orofaciodigital syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0013028 -Label(s): adenosine monophosphate deaminase deficiency -- 'adenosine monophosphate deaminase deficiency' SubClassOf 'inborn disorder of purine metabolism' -+ 'adenosine monophosphate deaminase deficiency' SubClassOf 'inborn disorder of purine metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0013027 -Label(s): posterior amorphous corneal dystrophy -- 'posterior amorphous corneal dystrophy' SubClassOf 'stromal corneal dystrophy' -+ 'posterior amorphous corneal dystrophy' SubClassOf 'stromal corneal dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0010731 -Label(s): Simpson-Golabi-Behmel syndrome -- 'Simpson-Golabi-Behmel syndrome' SubClassOf 'overgrowth syndrome' -+ 'Simpson-Golabi-Behmel syndrome' SubClassOf 'overgrowth syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0013008 -Label(s): combined immunodeficiency due to STIM1 deficiency -- 'combined immunodeficiency due to STIM1 deficiency' SubClassOf 'combined immunodeficiency due to CRAC channel dysfunction' -+ 'combined immunodeficiency due to STIM1 deficiency' SubClassOf 'combined immunodeficiency due to CRAC channel dysfunction' - -Class: http://purl.obolibrary.org/obo/MONDO_0013007 -Label(s): combined immunodeficiency due to ORAI1 deficiency -- 'combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'combined immunodeficiency due to CRAC channel dysfunction' -+ 'combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'combined immunodeficiency due to CRAC channel dysfunction' - -Class: http://purl.obolibrary.org/obo/MONDO_0013006 -Label(s): isolated growth hormone deficiency type IB -- 'isolated growth hormone deficiency type IB' SubClassOf 'isolated congenital growth hormone deficiency' -+ 'isolated growth hormone deficiency type IB' SubClassOf 'isolated congenital growth hormone deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0031052 -Label(s): developmental and epileptic encephalopathy 106 -- 'developmental and epileptic encephalopathy 106' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy 106' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0008799 -Label(s): anophthalmia/microphthalmia-esophageal atresia syndrome -- 'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf 'syndromic microphthalmia' -+ 'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf 'syndromic microphthalmia' ++ 'aganglionosis, total intestinal' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Hirschsprung disease' Class: http://purl.obolibrary.org/obo/MONDO_0013562 Label(s): aspergillosis, susceptibility to - 'aspergillosis, susceptibility to' SubClassOf 'predisposes towards' some 'aspergillosis' - 'aspergillosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'aspergillosis') -+ 'aspergillosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'aspergillosis') -+ 'aspergillosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'aspergillosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0018662 -Label(s): autosomal recessive brachyolmia -- 'autosomal recessive brachyolmia' SubClassOf 'brachyolmia' -+ 'autosomal recessive brachyolmia' SubClassOf 'brachyolmia' - -Class: http://purl.obolibrary.org/obo/MONDO_0011257 -Label(s): MPI-congenital disorder of glycosylation -- 'MPI-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'MPI-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0018634 -Label(s): hereditary amyloidosis -- 'hereditary amyloidosis' SubClassOf 'amyloidosis' -+ 'hereditary amyloidosis' SubClassOf 'amyloidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0003154 -Label(s): hemangioma of peripheral nerve -- 'hemangioma of peripheral nerve' SubClassOf 'benign neoplasm of peripheral nervous system' -+ 'hemangioma of peripheral nerve' SubClassOf 'benign neoplasm of peripheral nervous system' - -Class: http://purl.obolibrary.org/obo/MONDO_0000588 -Label(s): autoimmune disorder of gastrointestinal tract -- 'autoimmune disorder of gastrointestinal tract' SubClassOf 'digestive system disease' -+ 'autoimmune disorder of gastrointestinal tract' SubClassOf 'digestive system disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0018612 -Label(s): congenital hypothyroidism -- 'congenital hypothyroidism' SubClassOf 'hypothyroidism' -+ 'congenital hypothyroidism' SubClassOf 'hypothyroidism' - -Class: http://purl.obolibrary.org/obo/MONDO_0013821 -Label(s): intellectual disability, autosomal dominant 16 -- 'intellectual disability, autosomal dominant 16' SubClassOf 'Coffin-Siris syndrome' -+ 'intellectual disability, autosomal dominant 16' SubClassOf 'Coffin-Siris syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0100116 -Label(s): Middle East respiratory syndrome -- 'Middle East respiratory syndrome' SubClassOf 'Orthocoronavirinae infectious disease' -+ 'Middle East respiratory syndrome' SubClassOf 'Orthocoronavirinae infectious disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0000541 -Label(s): jejunal adenocarcinoma -- 'jejunal adenocarcinoma' SubClassOf 'small intestinal adenocarcinoma' -- 'jejunal adenocarcinoma' SubClassOf 'jejunal cancer' -+ 'jejunal adenocarcinoma' SubClassOf 'small intestinal adenocarcinoma' -+ 'jejunal adenocarcinoma' SubClassOf 'jejunal cancer' - -Class: http://purl.obolibrary.org/obo/CL_0000065 -Label(s): ependymal cell -+ 'ependymal cell' SubClassOf 'glial cell' ++ 'aspergillosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'aspergillosis') ++ 'aspergillosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'aspergillosis' + +Class: http://purl.obolibrary.org/obo/UBERON_0004363 +Label(s): pharyngeal arch artery +- 'pharyngeal arch artery' SubClassOf 'part_of' some 'head' Class: http://purl.obolibrary.org/obo/MONDO_0013855 Label(s): influenza, severe, susceptibility to - 'influenza, severe, susceptibility to' SubClassOf 'predisposes towards' some 'influenza' -+ 'influenza, severe, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'influenza' - -Class: http://purl.obolibrary.org/obo/MONDO_0013862 -Label(s): immunodeficiency, common variable, 7 -- 'immunodeficiency, common variable, 7' SubClassOf 'common variable immunodeficiency' -+ 'immunodeficiency, common variable, 7' SubClassOf 'common variable immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0013863 -Label(s): combined immunodeficiency due to LRBA deficiency -- 'combined immunodeficiency due to LRBA deficiency' SubClassOf 'common variable immunodeficiency' -+ 'combined immunodeficiency due to LRBA deficiency' SubClassOf 'common variable immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0013865 -Label(s): mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency -- 'mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0000514 -Label(s): bone squamous cell carcinoma -- 'bone squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' -+ 'bone squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0000503 -Label(s): lung adenocarcinoma in situ -- 'lung adenocarcinoma in situ' SubClassOf 'lung carcinoma in situ' -+ 'lung adenocarcinoma in situ' SubClassOf 'lung carcinoma in situ' - -Class: http://purl.obolibrary.org/obo/MONDO_0023692 -Label(s): maple syrup urine disease type 1B -- 'maple syrup urine disease type 1B' SubClassOf 'maple syrup urine disease' -+ 'maple syrup urine disease type 1B' SubClassOf 'maple syrup urine disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0023691 -Label(s): maple syrup urine disease type 1A -- 'maple syrup urine disease type 1A' SubClassOf 'maple syrup urine disease' -+ 'maple syrup urine disease type 1A' SubClassOf 'maple syrup urine disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0023670 -Label(s): Bardet-Biedl syndrome 20 -- 'Bardet-Biedl syndrome 20' SubClassOf 'Bardet-Biedl syndrome' -+ 'Bardet-Biedl syndrome 20' SubClassOf 'Bardet-Biedl syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0023664 -Label(s): spermatogenic failure 54 -- 'spermatogenic failure 54' SubClassOf 'azoospermia' -+ 'spermatogenic failure 54' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008810 -Label(s): familial apolipoprotein C-II deficiency -- 'familial apolipoprotein C-II deficiency' SubClassOf 'familial chylomicronemia syndrome' -+ 'familial apolipoprotein C-II deficiency' SubClassOf 'familial chylomicronemia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0007918 -Label(s): microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability -- 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'syndromic disease' -- 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'disorder of development or morphogenesis' -+ 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'syndromic disease' -+ 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'microcephaly' -+ 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'Mendelian neurodevelopmental disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0008830 -Label(s): aspartylglucosaminuria -- 'aspartylglucosaminuria' SubClassOf 'oligosaccharidosis' -- 'aspartylglucosaminuria' SubClassOf 'lysosomal storage disease with skeletal involvement' -+ 'aspartylglucosaminuria' SubClassOf 'oligosaccharidosis' -+ 'aspartylglucosaminuria' SubClassOf 'lysosomal storage disease with skeletal involvement' - -Class: http://purl.obolibrary.org/obo/MONDO_0008849 -Label(s): atrophoderma vermiculata -- 'atrophoderma vermiculata' SubClassOf 'keratosis pilaris atrophicans' -+ 'atrophoderma vermiculata' SubClassOf 'keratosis pilaris atrophicans' - -Class: http://purl.obolibrary.org/obo/MONDO_0007927 -Label(s): congenital macroglossia -- 'congenital macroglossia' SubClassOf 'macroglossia' -+ 'congenital macroglossia' SubClassOf 'macroglossia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008858 -Label(s): Behr syndrome -- 'Behr syndrome' SubClassOf 'autosomal recessive disease' -+ 'Behr syndrome' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0008862 -Label(s): 3-methylcrotonyl-CoA carboxylase 2 deficiency -- '3-methylcrotonyl-CoA carboxylase 2 deficiency' SubClassOf '3-methylcrotonyl-CoA carboxylase deficiency' -+ '3-methylcrotonyl-CoA carboxylase 2 deficiency' SubClassOf '3-methylcrotonyl-CoA carboxylase deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0008876 -Label(s): Bloom syndrome -- 'Bloom syndrome' SubClassOf 'syndromic disease' -+ 'Bloom syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0018590 -Label(s): ABeta2M amyloidosis -- 'ABeta2M amyloidosis' SubClassOf 'amyloidosis' -+ 'ABeta2M amyloidosis' SubClassOf 'amyloidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0018567 -Label(s): autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation -- 'autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation' SubClassOf 'Charcot-Marie-Tooth disease type 2' -+ 'autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation' SubClassOf 'Charcot-Marie-Tooth disease type 2' - -Class: http://purl.obolibrary.org/obo/MONDO_0001122 -Label(s): chronic maxillary sinusitis -- 'chronic maxillary sinusitis' SubClassOf 'chronic rhinosinusitis' -+ 'chronic maxillary sinusitis' SubClassOf 'chronic rhinosinusitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0018531 -Label(s): carcinoma of liver and intrahepatic biliary tract -- 'carcinoma of liver and intrahepatic biliary tract' SubClassOf 'liver cancer' -+ 'carcinoma of liver and intrahepatic biliary tract' SubClassOf 'liver cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0003252 -Label(s): granular cell cancer -- 'granular cell cancer' SubClassOf 'peripheral nervous system cancer' -+ 'granular cell cancer' SubClassOf 'peripheral nervous system cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0018521 -Label(s): squamous cell carcinoma of pancreas -- 'squamous cell carcinoma of pancreas' SubClassOf 'pancreatic carcinoma' -- 'squamous cell carcinoma of pancreas' SubClassOf 'squamous cell carcinoma' -+ 'squamous cell carcinoma of pancreas' SubClassOf 'pancreatic carcinoma' -+ 'squamous cell carcinoma of pancreas' SubClassOf 'squamous cell carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0003276 -Label(s): middle ear disorder -- 'middle ear disorder' SubClassOf 'auditory system disease' -+ 'middle ear disorder' SubClassOf 'auditory system disease' ++ 'influenza, severe, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'influenza' + +Class: http://purl.obolibrary.org/obo/MONDO_0024252 +Label(s): global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome +- 'global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome' SubClassOf 'monogenic epilepsy' ++ 'global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing + +Class: http://purl.obolibrary.org/obo/MONDO_0018582 +Label(s): GCGR-related hyperglucagonemia ++ 'GCGR-related hyperglucagonemia' SubClassOf 'genetic disorder' Class: http://purl.obolibrary.org/obo/MONDO_0013921 Label(s): herpes simplex encephalitis, susceptibility to, 4 - 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy' -+ 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Mendelian encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0003298 -Label(s): vulvar leiomyoma -- 'vulvar leiomyoma' SubClassOf 'vulvar benign neoplasm' -+ 'vulvar leiomyoma' SubClassOf 'vulvar benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0001163 -Label(s): paranoid personality disorder -- 'paranoid personality disorder' SubClassOf 'personality disorder' -+ 'paranoid personality disorder' SubClassOf 'personality disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0013953 -Label(s): immunodeficiency 28 -- 'immunodeficiency 28' SubClassOf 'inborn error of immunity' -+ 'immunodeficiency 28' SubClassOf 'inborn error of immunity' - -Class: http://purl.obolibrary.org/obo/MONDO_0000424 -Label(s): inborn vitamin B12 deficiency -- 'inborn vitamin B12 deficiency' SubClassOf 'vitamin metabolic disorder' -- 'inborn vitamin B12 deficiency' SubClassOf 'vitamin B12 deficiency' - -Class: http://www.ebi.ac.uk/efo/EFO_1000630 -Label(s): marginal zone B-cell lymphoma -- 'marginal zone B-cell lymphoma' SubClassOf 'indolent B-cell non-Hodgkin lymphoma' -+ 'marginal zone B-cell lymphoma' SubClassOf 'indolent B-cell non-Hodgkin lymphoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0011856 -Label(s): spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome -- 'spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome' SubClassOf 'spondylometaphyseal dysplasia' -+ 'spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome' SubClassOf 'spondylometaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0002314 -Label(s): chronic conjunctivitis -- 'chronic conjunctivitis' SubClassOf 'conjunctivitis' -+ 'chronic conjunctivitis' SubClassOf 'conjunctivitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0011869 -Label(s): epidermolysis bullosa simplex superficialis -- 'epidermolysis bullosa simplex superficialis' SubClassOf 'suprabasal epidermolysis bullosa simplex' -+ 'epidermolysis bullosa simplex superficialis' SubClassOf 'suprabasal epidermolysis bullosa simplex' - -Class: http://purl.obolibrary.org/obo/MONDO_0008908 -Label(s): MGAT2-congenital disorder of glycosylation -- 'MGAT2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' -+ 'MGAT2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' ++ 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Mendelian encephalopathy' + +Class: http://purl.obolibrary.org/obo/MONDO_0000456 +Label(s): cerebral creatine deficiency syndrome +- 'cerebral creatine deficiency syndrome' SubClassOf 'metabolic epilepsy' +- 'cerebral creatine deficiency syndrome' SubClassOf 'hereditary neurological disease' + +Class: http://purl.obolibrary.org/obo/MONDO_0007350 +Label(s): coloboma, ocular, autosomal dominant ++ 'coloboma, ocular, autosomal dominant' SubClassOf 'genetic disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0011835 +Label(s): sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +- 'sensory ataxic neuropathy, dysarthria, and ophthalmoparesis' SubClassOf 'metabolic epilepsy' Class: http://purl.obolibrary.org/obo/MONDO_0008915 Label(s): dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'disease has major feature' some 'Hypergonadotropic hypogonadism' - 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' -+ 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hypergonadotropic hypogonadism' -+ 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0008918 -Label(s): carnitine-acylcarnitine translocase deficiency -- 'carnitine-acylcarnitine translocase deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' -+ 'carnitine-acylcarnitine translocase deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' - -Class: http://purl.obolibrary.org/obo/MONDO_0002334 -Label(s): hematopoietic and lymphoid system neoplasm -- 'hematopoietic and lymphoid system neoplasm' SubClassOf 'hematologic disease' -+ 'hematopoietic and lymphoid system neoplasm' SubClassOf 'hematologic disease' ++ 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' ++ 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypergonadotropic hypogonadism' Class: http://purl.obolibrary.org/obo/MONDO_0011897 Label(s): leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome -- 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' SubClassOf 'leukodystrophy' -+ 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700282 -+ 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700276 - -Class: http://purl.obolibrary.org/obo/MONDO_0008972 -Label(s): rhizomelic chondrodysplasia punctata type 1 -- 'rhizomelic chondrodysplasia punctata type 1' SubClassOf 'rhizomelic chondrodysplasia punctata' -+ 'rhizomelic chondrodysplasia punctata type 1' SubClassOf 'rhizomelic chondrodysplasia punctata' +- 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' SubClassOf 'POLR3-related leukodystrophy' ++ 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' SubClassOf 'POLR3-related leukodystrophy' Class: http://purl.obolibrary.org/obo/MONDO_0018493 Label(s): malignant hyperthermia of anesthesia - 'malignant hyperthermia of anesthesia' SubClassOf 'disease has major feature' some 'Malignant hyperthermia' -+ 'malignant hyperthermia of anesthesia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Malignant hyperthermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0000396 -Label(s): spastic cerebral palsy -- 'spastic cerebral palsy' SubClassOf 'cerebral palsy' -+ 'spastic cerebral palsy' SubClassOf 'cerebral palsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0000386 -Label(s): digestive system neuroendocrine tumor, grade 1/2 -- 'digestive system neuroendocrine tumor, grade 1/2' SubClassOf 'digestive system neuroendocrine neoplasm' -+ 'digestive system neuroendocrine tumor, grade 1/2' SubClassOf 'digestive system neuroendocrine neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0000380 -Label(s): paranasal sinus carcinoma -- 'paranasal sinus carcinoma' SubClassOf 'paranasal sinus cancer' -+ 'paranasal sinus carcinoma' SubClassOf 'paranasal sinus cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0003377 -Label(s): extrahepatic bile duct leiomyosarcoma -- 'extrahepatic bile duct leiomyosarcoma' SubClassOf 'extrahepatic bile duct sarcoma' -+ 'extrahepatic bile duct leiomyosarcoma' SubClassOf 'extrahepatic bile duct sarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0000359 -Label(s): spondylocostal dysostosis -- 'spondylocostal dysostosis' SubClassOf 'vertebral column disorder' -+ 'spondylocostal dysostosis' SubClassOf 'vertebral column disorder' ++ 'malignant hyperthermia of anesthesia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Malignant hyperthermia' Class: http://purl.obolibrary.org/obo/MONDO_0000358 Label(s): orofacial cleft - 'orofacial cleft' SubClassOf 'disease_has_basis_in_development_of' some 'embryonic facial prominence' - 'orofacial cleft' SubClassOf 'disease has major feature' some 'Orofacial cleft' -+ 'orofacial cleft' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Orofacial cleft' -+ 'orofacial cleft' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_basis_in_development_of some 'embryonic facial prominence' - -Class: http://purl.obolibrary.org/obo/MONDO_0025354 -Label(s): spermatogenic failure, X-linked, 3 -- 'spermatogenic failure, X-linked, 3' SubClassOf 'azoospermia' -+ 'spermatogenic failure, X-linked, 3' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0100250 -Label(s): 46,XX sex reversal 1 -- '46,XX sex reversal 1' SubClassOf '46,XX testicular disorder of sex development' -+ '46,XX sex reversal 1' SubClassOf '46,XX testicular disorder of sex development' - -Class: http://purl.obolibrary.org/obo/MONDO_0013622 -Label(s): platelet-type bleeding disorder 9 -- 'platelet-type bleeding disorder 9' SubClassOf 'inherited bleeding disorder, platelet-type' -+ 'platelet-type bleeding disorder 9' SubClassOf 'inherited bleeding disorder, platelet-type' - -Class: http://purl.obolibrary.org/obo/MONDO_0037398 -Label(s): pneumonia caused by pseudomonas aeruginosa infection -- 'pneumonia caused by pseudomonas aeruginosa infection' SubClassOf 'bacterial pneumonia' -+ 'pneumonia caused by pseudomonas aeruginosa infection' SubClassOf 'bacterial pneumonia' - -Class: http://www.ebi.ac.uk/efo/EFO_0004289 -Label(s): lymphoid leukemia -- 'lymphoid leukemia' SubClassOf 'leukemia' -+ 'lymphoid leukemia' SubClassOf 'leukemia' ++ 'orofacial cleft' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of some 'embryonic facial prominence' ++ 'orofacial cleft' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Orofacial cleft' Class: http://www.ebi.ac.uk/efo/EFO_0004280 Label(s): movement disorder - 'movement disorder' EquivalentTo 'disease' and ('disease has major feature' some 'Abnormality of movement') - 'movement disorder' SubClassOf 'disease has major feature' some 'Abnormality of movement' -+ 'movement disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormality of movement' -+ 'movement disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormality of movement') - -Class: http://www.ebi.ac.uk/efo/EFO_0004276 -Label(s): Stevens-Johnson syndrome -- 'Stevens-Johnson syndrome' SubClassOf 'toxic epidermal necrolysis' -+ 'Stevens-Johnson syndrome' SubClassOf 'toxic epidermal necrolysis' - -Class: http://www.ebi.ac.uk/efo/EFO_0004259 -Label(s): osteonecrosis -- 'osteonecrosis' SubClassOf 'bone disease' -+ 'osteonecrosis' SubClassOf 'bone disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010997 -Label(s): supranuclear palsy, progressive, 1 -- 'supranuclear palsy, progressive, 1' SubClassOf 'progressive supranuclear palsy' -+ 'supranuclear palsy, progressive, 1' SubClassOf 'progressive supranuclear palsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0003401 -Label(s): central nervous system endodermal sinus tumor -- 'central nervous system endodermal sinus tumor' SubClassOf 'childhood central nervous system germ cell tumor' -+ 'central nervous system endodermal sinus tumor' SubClassOf 'childhood central nervous system germ cell tumor' - -Class: http://purl.obolibrary.org/obo/MONDO_0003404 -Label(s): adult yolk sac tumor -- 'adult yolk sac tumor' SubClassOf 'adult germ cell tumor' -+ 'adult yolk sac tumor' SubClassOf 'adult germ cell tumor' - -Class: http://purl.obolibrary.org/obo/MONDO_0003427 -Label(s): bronchus adenoma -- 'bronchus adenoma' SubClassOf 'bronchial neoplasm' -+ 'bronchus adenoma' SubClassOf 'bronchial neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0054732 -Label(s): spermatogenic failure 28 -- 'spermatogenic failure 28' SubClassOf 'azoospermia' -+ 'spermatogenic failure 28' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010959 -Label(s): van den Ende-Gupta syndrome -- 'van den Ende-Gupta syndrome' SubClassOf 'arthrogryposis multiplex congenita' -+ 'van den Ende-Gupta syndrome' SubClassOf 'arthrogryposis multiplex congenita' - -Class: http://purl.obolibrary.org/obo/MONDO_0018343 -Label(s): periodic paralysis with later-onset distal motor neuropathy -- 'periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'familial periodic paralysis' -+ 'periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'familial periodic paralysis' - -Class: http://purl.obolibrary.org/obo/MONDO_0010946 -Label(s): hypertrophic cardiomyopathy 6 -- 'hypertrophic cardiomyopathy 6' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'hypertrophic cardiomyopathy 6' SubClassOf 'familial hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0000286 -Label(s): Epstein-Barr virus hepatitis -- 'Epstein-Barr virus hepatitis' SubClassOf 'Epstein-Barr virus infection' -+ 'Epstein-Barr virus hepatitis' SubClassOf 'Epstein-Barr virus infection' - -Class: http://purl.obolibrary.org/obo/MONDO_0010939 -Label(s): low phospholipid associated cholelithiasis -- 'low phospholipid associated cholelithiasis' SubClassOf 'hereditary gallbladder disorder' -+ 'low phospholipid associated cholelithiasis' SubClassOf 'hereditary gallbladder disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0010912 -Label(s): fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement -- 'fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement' SubClassOf 'congenital fibrosis of extraocular muscles' -+ 'fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement' SubClassOf 'congenital fibrosis of extraocular muscles' - -Class: http://purl.obolibrary.org/obo/MONDO_0010908 -Label(s): loose anagen syndrome -- 'loose anagen syndrome' SubClassOf 'alopecia' -+ 'loose anagen syndrome' SubClassOf 'alopecia' - -Class: http://purl.obolibrary.org/obo/MONDO_0000236 -Label(s): oropharyngeal anthrax -- 'oropharyngeal anthrax' SubClassOf 'gastrointestinal anthrax' -+ 'oropharyngeal anthrax' SubClassOf 'gastrointestinal anthrax' - -Class: http://purl.obolibrary.org/obo/MONDO_0015627 -Label(s): multiple epiphyseal dysplasia due to collagen 9 anomaly -- 'multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'multiple epiphyseal dysplasia' -+ 'multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'multiple epiphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0859578 -Label(s): lacrimoauriculodentodigital syndrome 3 -- 'lacrimoauriculodentodigital syndrome 3' SubClassOf 'LADD syndrome' -+ 'lacrimoauriculodentodigital syndrome 3' SubClassOf 'LADD syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011964 -Label(s): DPAGT1-congenital disorder of glycosylation -- 'DPAGT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'DPAGT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0859523 -Label(s): congenital myopathy 2c, severe infantile, autosomal dominant -- 'congenital myopathy 2c, severe infantile, autosomal dominant' SubClassOf 'congenital myopathy' -+ 'congenital myopathy 2c, severe infantile, autosomal dominant' SubClassOf 'congenital myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0859518 -Label(s): leukodystrophy, hypomyelinating, 26, with chondrodysplasia -- 'leukodystrophy, hypomyelinating, 26, with chondrodysplasia' SubClassOf 'leukodystrophy' -+ 'leukodystrophy, hypomyelinating, 26, with chondrodysplasia' SubClassOf 'leukodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0859514 -Label(s): congenital myopathy 18 -- 'congenital myopathy 18' SubClassOf 'congenital myopathy' -+ 'congenital myopathy 18' SubClassOf 'congenital myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0010823 -Label(s): rhizomelic chondrodysplasia punctata type 3 -- 'rhizomelic chondrodysplasia punctata type 3' SubClassOf 'rhizomelic chondrodysplasia punctata' -+ 'rhizomelic chondrodysplasia punctata type 3' SubClassOf 'rhizomelic chondrodysplasia punctata' - -Class: http://www.ebi.ac.uk/efo/EFO_0004198 -Label(s): skin neoplasm -- 'skin neoplasm' SubClassOf 'skin disease' -+ 'skin neoplasm' SubClassOf 'skin disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0004193 -Label(s): basal cell carcinoma -- 'basal cell carcinoma' SubClassOf 'basal cell neoplasm' -+ 'basal cell carcinoma' SubClassOf 'basal cell neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_0004192 -Label(s): alopecia areata -- 'alopecia areata' SubClassOf 'alopecia' -+ 'alopecia areata' SubClassOf 'alopecia' ++ 'movement disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormality of movement' ++ 'movement disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormality of movement') Class: http://www.ebi.ac.uk/efo/EFO_0004152 Label(s): chorea - 'chorea' SubClassOf 'disease has major feature' some 'Chorea' -+ 'chorea' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Chorea' ++ 'chorea' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Chorea' -Class: http://purl.obolibrary.org/obo/MONDO_0018276 -Label(s): muscular dystrophy-dystroglycanopathy -- 'muscular dystrophy-dystroglycanopathy' SubClassOf 'congenital muscular dystrophy' -+ 'muscular dystrophy-dystroglycanopathy' SubClassOf 'congenital muscular dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0021005 -Label(s): faciodigitogenital syndrome -- 'faciodigitogenital syndrome' SubClassOf 'syndromic disease' -+ 'faciodigitogenital syndrome' SubClassOf 'syndromic disease' +Class: http://purl.obolibrary.org/obo/MONDO_0010898 +Label(s): autosomal dominant epilepsy with auditory features +- 'autosomal dominant epilepsy with auditory features' SubClassOf 'temporal lobe epilepsy' ++ 'autosomal dominant epilepsy with auditory features' SubClassOf 'familial partial epilepsy' Class: http://purl.obolibrary.org/obo/MONDO_0018266 Label(s): ataxia - telangiectasia variant - 'ataxia - telangiectasia variant' SubClassOf 'disease shares features of' some 'ataxia telangiectasia' -+ 'ataxia - telangiectasia variant' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'ataxia telangiectasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0054833 -Label(s): charcot-marie-tooth disease, axonal, type 2DD -- 'charcot-marie-tooth disease, axonal, type 2DD' SubClassOf 'Charcot-Marie-Tooth disease type 2' -- 'charcot-marie-tooth disease, axonal, type 2DD' SubClassOf 'autosomal dominant disease' -+ 'charcot-marie-tooth disease, axonal, type 2DD' SubClassOf 'Charcot-Marie-Tooth disease type 2' -+ 'charcot-marie-tooth disease, axonal, type 2DD' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010866 -Label(s): infantile osteopetrosis with neuroaxonal dysplasia -- 'infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'osteopetrosis' -+ 'infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'osteopetrosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0021020 -Label(s): Crigler-Najjar syndrome type 1 -- 'Crigler-Najjar syndrome type 1' SubClassOf 'Crigler-Najjar syndrome' -+ 'Crigler-Najjar syndrome type 1' SubClassOf 'Crigler-Najjar syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0054842 -Label(s): polycystic kidney disease 6 with or without polycystic liver disease -- 'polycystic kidney disease 6 with or without polycystic liver disease' SubClassOf 'Autosomal dominant polycystic kidney disease' -+ 'polycystic kidney disease 6 with or without polycystic liver disease' SubClassOf 'Autosomal dominant polycystic kidney disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010856 -Label(s): autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis -- 'autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'partial deletion of the short arm of chromosome 16' -+ 'autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'partial deletion of the short arm of chromosome 16' - -Class: http://purl.obolibrary.org/obo/MONDO_0010854 -Label(s): Toriello-Lacassie-Droste syndrome -- 'Toriello-Lacassie-Droste syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'Toriello-Lacassie-Droste syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010839 -Label(s): neuronopathy, distal hereditary motor, autosomal dominant 8 -- 'neuronopathy, distal hereditary motor, autosomal dominant 8' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' -+ 'neuronopathy, distal hereditary motor, autosomal dominant 8' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' - -Class: http://purl.obolibrary.org/obo/MONDO_0003561 -Label(s): malignant giant cell tumor of soft parts -- 'malignant giant cell tumor of soft parts' SubClassOf 'malignant giant cell tumor' -+ 'malignant giant cell tumor of soft parts' SubClassOf 'malignant giant cell tumor' - -Class: http://purl.obolibrary.org/obo/MONDO_0000179 -Label(s): Neu-Laxova syndrome -- 'Neu-Laxova syndrome' SubClassOf 'lissencephaly type 3' -+ 'Neu-Laxova syndrome' SubClassOf 'lissencephaly type 3' - -Class: http://purl.obolibrary.org/obo/MONDO_0018213 -Label(s): hereditary sensory and autonomic neuropathy type 1 -- 'hereditary sensory and autonomic neuropathy type 1' SubClassOf 'hereditary sensory and autonomic neuropathy' -+ 'hereditary sensory and autonomic neuropathy type 1' SubClassOf 'hereditary sensory and autonomic neuropathy' ++ 'ataxia - telangiectasia variant' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'ataxia telangiectasia' + +Class: http://purl.obolibrary.org/obo/MONDO_0018214 +Label(s): generalized epilepsy with febrile seizures plus +- 'generalized epilepsy with febrile seizures plus' SubClassOf 'hereditary neurological disease' +- 'generalized epilepsy with febrile seizures plus' SubClassOf 'epilepsy' ++ 'generalized epilepsy with febrile seizures plus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100576 + +Class: http://purl.obolibrary.org/obo/MONDO_0010826 +Label(s): childhood absence epilepsy +- 'childhood absence epilepsy' SubClassOf 'hereditary neurological disease' ++ 'childhood absence epilepsy' SubClassOf 'generalised epilepsy' + +Class: http://purl.obolibrary.org/obo/MONDO_0000169 +Label(s): microphthalmia, isolated, with cataract +- 'microphthalmia, isolated, with cataract' SubClassOf 'isolated microphthalmia' Class: http://purl.obolibrary.org/obo/MONDO_0000162 Label(s): autoimmune thyroid disease, susceptibility to - 'autoimmune thyroid disease, susceptibility to' SubClassOf 'predisposes towards' some 'autoimmune thyroid disease' - 'autoimmune thyroid disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'autoimmune thyroid disease') -+ 'autoimmune thyroid disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autoimmune thyroid disease' -+ 'autoimmune thyroid disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autoimmune thyroid disease') ++ 'autoimmune thyroid disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autoimmune thyroid disease' ++ 'autoimmune thyroid disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autoimmune thyroid disease') + +Class: http://purl.obolibrary.org/obo/MONDO_0000160 +Label(s): epilepsy, familial adult myoclonic ++ 'epilepsy, familial adult myoclonic' SubClassOf 'hereditary neurological disease' Class: http://purl.obolibrary.org/obo/MONDO_0000156 Label(s): trigonocephaly - 'trigonocephaly' SubClassOf 'disease has major feature' some 'Trigonocephaly' -+ 'trigonocephaly' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Trigonocephaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0010802 -Label(s): pancreatic hypoplasia-diabetes-congenital heart disease syndrome -- 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'syndromic disease' -+ 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'syndromic disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0009733 -Label(s): psoriasis-related juvenile idiopathic arthritis -- 'psoriasis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' -+ 'psoriasis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' - -Class: http://purl.obolibrary.org/obo/MONDO_0000136 -Label(s): keratosis follicularis spinulosa decalvans -- 'keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis pilaris atrophicans' -+ 'keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis pilaris atrophicans' ++ 'trigonocephaly' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Trigonocephaly' Class: http://purl.obolibrary.org/obo/MONDO_0000108 Label(s): bacteremia, susceptibility - 'bacteremia, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'bacteriemia') - 'bacteremia, susceptibility' SubClassOf 'predisposes towards' some 'bacteriemia' -+ 'bacteremia, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'bacteriemia' -+ 'bacteremia, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'bacteriemia') - -Class: http://purl.obolibrary.org/obo/MONDO_0005784 -Label(s): hantavirus hemorrhagic fever with renal syndrome -- 'hantavirus hemorrhagic fever with renal syndrome' SubClassOf 'kidney disease' -+ 'hantavirus hemorrhagic fever with renal syndrome' SubClassOf 'kidney disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0023297 -Label(s): guttate psoriasis -- 'guttate psoriasis' SubClassOf 'psoriasis' -+ 'guttate psoriasis' SubClassOf 'psoriasis' - -Class: http://purl.obolibrary.org/obo/MONDO_0033946 -Label(s): hereditary angioedema with C1Inh deficiency -- 'hereditary angioedema with C1Inh deficiency' SubClassOf 'hereditary angioedema' -+ 'hereditary angioedema with C1Inh deficiency' SubClassOf 'hereditary angioedema' - -Class: http://purl.obolibrary.org/obo/MONDO_0010091 -Label(s): Cold-induced sweating syndrome 1 -- 'Cold-induced sweating syndrome 1' SubClassOf 'cold-induced sweating syndrome' -+ 'Cold-induced sweating syndrome 1' SubClassOf 'cold-induced sweating syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0016006 -Label(s): Cockayne syndrome -- 'Cockayne syndrome' SubClassOf 'autosomal recessive disease' -+ 'Cockayne syndrome' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0016009 -Label(s): fetal trimethadione syndrome -- 'fetal trimethadione syndrome' SubClassOf 'toxic or drug-related embryofetopathy' -+ 'fetal trimethadione syndrome' SubClassOf 'toxic or drug-related embryofetopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0008660 -Label(s): autosomal dominant hypophosphatemic rickets -- 'autosomal dominant hypophosphatemic rickets' SubClassOf 'autosomal dominant disease' -+ 'autosomal dominant hypophosphatemic rickets' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0016033 -Label(s): Cornelia de Lange syndrome -- 'Cornelia de Lange syndrome' SubClassOf 'syndromic disease' -+ 'Cornelia de Lange syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0044634 -Label(s): retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome -- 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'syndromic disease' -+ 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0023246 -Label(s): linear porokeratosis -- 'linear porokeratosis' SubClassOf 'porokeratosis' -+ 'linear porokeratosis' SubClassOf 'porokeratosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0016044 -Label(s): cleft lip/palate -- 'cleft lip/palate' SubClassOf 'disorder of development or morphogenesis' -+ 'cleft lip/palate' SubClassOf 'disorder of development or morphogenesis' - -Class: http://purl.obolibrary.org/obo/GO_0009450 -Label(s): gamma-aminobutyric acid catabolic process -- 'gamma-aminobutyric acid catabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0044202 -Label(s): episodic kinesigenic dyskinesia -- 'episodic kinesigenic dyskinesia' SubClassOf 'paroxysmal dyskinesia' -+ 'episodic kinesigenic dyskinesia' SubClassOf 'paroxysmal dyskinesia' - -Class: http://purl.obolibrary.org/obo/MONDO_0008689 -Label(s): dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema -- 'dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema' SubClassOf 'dehydrated hereditary stomatocytosis' -+ 'dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema' SubClassOf 'dehydrated hereditary stomatocytosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0010788 -Label(s): Leber hereditary optic neuropathy -- 'Leber hereditary optic neuropathy' SubClassOf 'hereditary optic neuropathy' -+ 'Leber hereditary optic neuropathy' SubClassOf 'hereditary optic neuropathy' ++ 'bacteremia, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'bacteriemia') ++ 'bacteremia, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'bacteriemia' + +Class: http://purl.obolibrary.org/obo/MONDO_0016025 +Label(s): myoclonic-astatic epilepsy +- 'myoclonic-astatic epilepsy' SubClassOf 'hereditary neurological disease' +- 'myoclonic-astatic epilepsy' SubClassOf 'inborn disorder of amino acid transport' + +Class: http://purl.obolibrary.org/obo/MONDO_0010794 +Label(s): NARP syndrome +- 'NARP syndrome' SubClassOf 'metabolic epilepsy' + +Class: http://purl.obolibrary.org/obo/MONDO_0010790 +Label(s): MERRF syndrome +- 'MERRF syndrome' SubClassOf 'hereditary neurological disease' +- 'MERRF syndrome' SubClassOf 'metabolic epilepsy' +- 'MERRF syndrome' SubClassOf 'congenital nervous system disorder' Class: http://purl.obolibrary.org/obo/MONDO_0010787 Label(s): Kearns-Sayre syndrome -- 'Kearns-Sayre syndrome' SubClassOf 'progressive external ophthalmoplegia' -+ 'Kearns-Sayre syndrome' SubClassOf 'progressive external ophthalmoplegia' - -Class: http://purl.obolibrary.org/obo/MONDO_0018168 -Label(s): primary non-essential cutis verticis gyrata -- 'primary non-essential cutis verticis gyrata' SubClassOf 'primary cutis verticis gyrata' -+ 'primary non-essential cutis verticis gyrata' SubClassOf 'primary cutis verticis gyrata' - -Class: http://purl.obolibrary.org/obo/MONDO_0010779 -Label(s): mitochondrial non-syndromic sensorineural hearing loss -- 'mitochondrial non-syndromic sensorineural hearing loss' SubClassOf 'prelingual non-syndromic genetic hearing loss' -- 'mitochondrial non-syndromic sensorineural hearing loss' SubClassOf 'postlingual non-syndromic genetic hearing loss' - -Class: http://purl.obolibrary.org/obo/MONDO_0003632 -Label(s): endocervicitis -- 'endocervicitis' SubClassOf 'cervicitis' -+ 'endocervicitis' SubClassOf 'cervicitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0010758 -Label(s): Wieacker-Wolff syndrome -- 'Wieacker-Wolff syndrome' SubClassOf 'Wieacker-Wolff syndrome (spectrum)' -+ 'Wieacker-Wolff syndrome' SubClassOf 'Wieacker-Wolff syndrome (spectrum)' - -Class: http://purl.obolibrary.org/obo/MONDO_0001334 -Label(s): hypertrichosis of eyelid -- 'hypertrichosis of eyelid' SubClassOf 'hypertrichosis' -- 'hypertrichosis of eyelid' SubClassOf 'eyelid disease' -+ 'hypertrichosis of eyelid' SubClassOf 'hypertrichosis' -+ 'hypertrichosis of eyelid' SubClassOf 'eyelid disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0021137 -Label(s): not rare -- 'not rare' SubClassOf 'rare or common' - -Class: http://www.ebi.ac.uk/efo/EFO_0009672 -Label(s): inner ear disease -- 'inner ear disease' SubClassOf 'auditory system disease' -+ 'inner ear disease' SubClassOf 'auditory system disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010737 -Label(s): spondyloepiphyseal dysplasia tarda, X-linked -- 'spondyloepiphyseal dysplasia tarda, X-linked' SubClassOf 'spondyloepiphyseal dysplasia tarda' -+ 'spondyloepiphyseal dysplasia tarda, X-linked' SubClassOf 'spondyloepiphyseal dysplasia tarda' - -Class: http://www.ebi.ac.uk/efo/EFO_0009668 -Label(s): external ear disease -- 'external ear disease' SubClassOf 'auditory system disease' -+ 'external ear disease' SubClassOf 'auditory system disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0009667 -Label(s): eustachian tube disease -- 'eustachian tube disease' SubClassOf 'middle ear disorder' -+ 'eustachian tube disease' SubClassOf 'middle ear disorder' +- 'Kearns-Sayre syndrome' SubClassOf 'congenital nervous system disorder' Class: http://purl.obolibrary.org/obo/MONDO_0000070 Label(s): Mycobacterium tuberculosis, susceptibility - 'Mycobacterium tuberculosis, susceptibility' SubClassOf 'predisposes towards' some 'tuberculosis' - 'Mycobacterium tuberculosis, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'tuberculosis') -+ 'Mycobacterium tuberculosis, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'tuberculosis' -+ 'Mycobacterium tuberculosis, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'tuberculosis') - -Class: http://purl.obolibrary.org/obo/MONDO_0010726 -Label(s): Rett syndrome -- 'Rett syndrome' SubClassOf 'pervasive developmental disorder' -+ 'Rett syndrome' SubClassOf 'pervasive developmental disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0010725 -Label(s): X-linked retinoschisis -- 'X-linked retinoschisis' SubClassOf 'retinoschisis' -+ 'X-linked retinoschisis' SubClassOf 'retinoschisis' - -Class: http://purl.obolibrary.org/obo/MONDO_0000062 -Label(s): isolated microphthalmia -- 'isolated microphthalmia' SubClassOf 'microphthalmia' -+ 'isolated microphthalmia' SubClassOf 'microphthalmia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010714 -Label(s): Pelizeaus-Merzbacher spectrum disorder -- 'Pelizeaus-Merzbacher spectrum disorder' SubClassOf 'leukodystrophy' -+ 'Pelizeaus-Merzbacher spectrum disorder' SubClassOf 'leukodystrophy' - -Class: http://www.ebi.ac.uk/efo/EFO_0009646 -Label(s): macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss -- 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf 'inherited bleeding disorder, platelet-type' -+ 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf 'inherited bleeding disorder, platelet-type' - -Class: http://purl.obolibrary.org/obo/MONDO_0010706 -Label(s): premature ovarian failure 1 -- 'premature ovarian failure 1' SubClassOf 'inherited primary ovarian failure' -+ 'premature ovarian failure 1' SubClassOf 'inherited primary ovarian failure' - -Class: http://purl.obolibrary.org/obo/MONDO_0010704 -Label(s): otopalatodigital syndrome type 1 -- 'otopalatodigital syndrome type 1' SubClassOf 'otopalatodigital syndrome' -+ 'otopalatodigital syndrome type 1' SubClassOf 'otopalatodigital syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0013702 -Label(s): intellectual disability, autosomal recessive 27 -- 'intellectual disability, autosomal recessive 27' SubClassOf 'autosomal recessive non-syndromic intellectual disability' -+ 'intellectual disability, autosomal recessive 27' SubClassOf 'autosomal recessive non-syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0015735 -Label(s): severe congenital nemaline myopathy -- 'severe congenital nemaline myopathy' SubClassOf 'nemaline myopathy' -+ 'severe congenital nemaline myopathy' SubClassOf 'nemaline myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0859346 -Label(s): mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition -- 'mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition' SubClassOf 'mosaic variegated aneuploidy syndrome' -+ 'mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition' SubClassOf 'mosaic variegated aneuploidy syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0016158 -Label(s): narcolepsy-cataplexy syndrome -- 'narcolepsy-cataplexy syndrome' SubClassOf 'narcolepsy' -+ 'narcolepsy-cataplexy syndrome' SubClassOf 'narcolepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0016162 -Label(s): bilateral frontal polymicrogyria -- 'bilateral frontal polymicrogyria' SubClassOf 'bilateral polymicrogyria' -+ 'bilateral frontal polymicrogyria' SubClassOf 'bilateral polymicrogyria' - -Class: http://purl.obolibrary.org/obo/MONDO_0016163 -Label(s): autosomal dominant cerebellar ataxia type II -- 'autosomal dominant cerebellar ataxia type II' SubClassOf 'autosomal dominant cerebellar ataxia' -+ 'autosomal dominant cerebellar ataxia type II' SubClassOf 'autosomal dominant cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0011391 -Label(s): megalencephalic leukoencephalopathy with subcortical cysts -- 'megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'leukodystrophy' -+ 'megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'leukodystrophy' - -Class: http://www.ebi.ac.uk/efo/EFO_1000476 -Label(s): Pineocytoma -- 'Pineocytoma' SubClassOf 'benign endocrine neoplasm' -+ 'Pineocytoma' SubClassOf 'benign endocrine neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0859300 -Label(s): neuronopathy, distal hereditary motor, autosomal dominant 10 -- 'neuronopathy, distal hereditary motor, autosomal dominant 10' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' -+ 'neuronopathy, distal hereditary motor, autosomal dominant 10' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' ++ 'Mycobacterium tuberculosis, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'tuberculosis') ++ 'Mycobacterium tuberculosis, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'tuberculosis' + +Class: http://purl.obolibrary.org/obo/MONDO_0859345 +Label(s): branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome +- 'branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome' SubClassOf 'genetic disorder' ++ 'branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing + +Class: http://purl.obolibrary.org/obo/MONDO_0859304 +Label(s): neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction +- 'neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction' SubClassOf 'neurodegenerative disease' ++ 'neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction' SubClassOf 'inherited neurodegenerative disorder' Class: http://purl.obolibrary.org/obo/MONDO_0044315 Label(s): craniosynostosis 7 - 'craniosynostosis 7' SubClassOf 'predisposes towards' some 'craniosynostosis' -+ 'craniosynostosis 7' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'craniosynostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0044325 -Label(s): Fanconi anemia, complementation group W -- 'Fanconi anemia, complementation group W' SubClassOf 'Fanconi anemia' -+ 'Fanconi anemia, complementation group W' SubClassOf 'Fanconi anemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0018096 -Label(s): Weill-Marchesani syndrome -- 'Weill-Marchesani syndrome' SubClassOf 'syndromic disease' -+ 'Weill-Marchesani syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0018094 -Label(s): Waardenburg syndrome -- 'Waardenburg syndrome' SubClassOf 'syndromic disease' -+ 'Waardenburg syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0013591 -Label(s): epiphyseal dysplasia, multiple, 6 -- 'epiphyseal dysplasia, multiple, 6' SubClassOf 'multiple epiphyseal dysplasia due to collagen 9 anomaly' -+ 'epiphyseal dysplasia, multiple, 6' SubClassOf 'multiple epiphyseal dysplasia due to collagen 9 anomaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0010693 -Label(s): nystagmus 1, congenital, X-linked -- 'nystagmus 1, congenital, X-linked' SubClassOf 'congenital nystagmus' -+ 'nystagmus 1, congenital, X-linked' SubClassOf 'congenital nystagmus' - -Class: http://purl.obolibrary.org/obo/MONDO_0010111 -Label(s): odontotrichomelic syndrome -- 'odontotrichomelic syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'odontotrichomelic syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010683 -Label(s): X-linked myotubular myopathy -- 'X-linked myotubular myopathy' SubClassOf 'centronuclear myopathy' -+ 'X-linked myotubular myopathy' SubClassOf 'centronuclear myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0018067 -Label(s): triploidy -- 'triploidy' SubClassOf 'polyploidy' -+ 'triploidy' SubClassOf 'polyploidy' - -Class: http://purl.obolibrary.org/obo/MONDO_0010679 -Label(s): Duchenne muscular dystrophy -- 'Duchenne muscular dystrophy' SubClassOf 'muscular dystrophy' -+ 'Duchenne muscular dystrophy' SubClassOf 'muscular dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0010674 -Label(s): mucopolysaccharidosis type 2 -- 'mucopolysaccharidosis type 2' SubClassOf 'mucopolysaccharidosis' -- 'mucopolysaccharidosis type 2' SubClassOf 'lysosomal storage disease with skeletal involvement' -+ 'mucopolysaccharidosis type 2' SubClassOf 'mucopolysaccharidosis' -+ 'mucopolysaccharidosis type 2' SubClassOf 'lysosomal storage disease with skeletal involvement' - -Class: http://purl.obolibrary.org/obo/MONDO_0021221 -Label(s): vestibulocochlear nerve neoplasm -- 'vestibulocochlear nerve neoplasm' SubClassOf 'vestibulocochlear nerve disorder' -+ 'vestibulocochlear nerve neoplasm' SubClassOf 'vestibulocochlear nerve disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0010659 -Label(s): FRAXE intellectual disability -- 'FRAXE intellectual disability' SubClassOf 'non-syndromic X-linked intellectual disability' -+ 'FRAXE intellectual disability' SubClassOf 'non-syndromic X-linked intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0010653 -Label(s): Renpenning syndrome -- 'Renpenning syndrome' SubClassOf 'X-linked syndromic intellectual disability' -+ 'Renpenning syndrome' SubClassOf 'X-linked syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0010650 -Label(s): Melnick-Needles syndrome -- 'Melnick-Needles syndrome' SubClassOf 'otopalatodigital syndrome spectrum disorder' -+ 'Melnick-Needles syndrome' SubClassOf 'otopalatodigital syndrome spectrum disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0018026 -Label(s): tetraploidy syndrome -- 'tetraploidy syndrome' SubClassOf 'polyploidy' -+ 'tetraploidy syndrome' SubClassOf 'polyploidy' - -Class: http://purl.obolibrary.org/obo/MONDO_0010626 -Label(s): hyper-IgM syndrome type 1 -- 'hyper-IgM syndrome type 1' SubClassOf 'hyper-IgM syndrome' -+ 'hyper-IgM syndrome type 1' SubClassOf 'hyper-IgM syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010622 -Label(s): recessive X-linked ichthyosis -- 'recessive X-linked ichthyosis' SubClassOf 'X-linked recessive disease' -+ 'recessive X-linked ichthyosis' SubClassOf 'X-linked recessive disease' ++ 'craniosynostosis 7' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'craniosynostosis' Class: http://www.ebi.ac.uk/efo/EFO_0009550 Label(s): headache disorder - 'headache disorder' SubClassOf 'disease has major feature' some 'Headache' - 'headache disorder' EquivalentTo 'neurological pain disorder' and ('disease has major feature' some 'Headache') -+ 'headache disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Headache' -+ 'headache disorder' EquivalentTo 'neurological pain disorder' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Headache') - -Class: http://purl.obolibrary.org/obo/MONDO_0010619 -Label(s): X-linked dominant hypophosphatemic rickets -- 'X-linked dominant hypophosphatemic rickets' SubClassOf 'X-linked dominant disease' -+ 'X-linked dominant hypophosphatemic rickets' SubClassOf 'X-linked dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010613 -Label(s): inborn glycerol kinase deficiency -- 'inborn glycerol kinase deficiency' SubClassOf 'inborn errors of metabolism' -+ 'inborn glycerol kinase deficiency' SubClassOf 'inborn errors of metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0010611 -Label(s): X-linked hydrocephalus with stenosis of the aqueduct of Sylvius -- 'X-linked hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'congenital hydrocephalus' -- 'X-linked hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'L1 syndrome' -+ 'X-linked hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'congenital hydrocephalus' -+ 'X-linked hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'L1 syndrome' ++ 'headache disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Headache' ++ 'headache disorder' EquivalentTo 'neurological pain disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Headache') Class: http://www.ebi.ac.uk/efo/EFO_0009532 Label(s): autonomic nervous system disease - 'autonomic nervous system disease' SubClassOf 'disease has major feature' some 'Abnormal autonomic nervous system physiology' -+ 'autonomic nervous system disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal autonomic nervous system physiology' - -Class: http://www.ebi.ac.uk/efo/EFO_0009531 -Label(s): aortic valve disease -- 'aortic valve disease' SubClassOf 'aortic disease' -+ 'aortic valve disease' SubClassOf 'aortic disease' ++ 'autonomic nervous system disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal autonomic nervous system physiology' Class: http://purl.obolibrary.org/obo/MONDO_0100440 Label(s): Asperger syndrome, susceptibility to - 'Asperger syndrome, susceptibility to' SubClassOf 'predisposes towards' some 'Asperger syndrome' - 'Asperger syndrome, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Asperger syndrome') -+ 'Asperger syndrome, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Asperger syndrome' -+ 'Asperger syndrome, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Asperger syndrome') - -Class: http://purl.obolibrary.org/obo/MONDO_0859267 -Label(s): tumor predisposition syndrome 2 -- 'tumor predisposition syndrome 2' SubClassOf 'hereditary neoplastic syndrome' -+ 'tumor predisposition syndrome 2' SubClassOf 'hereditary neoplastic syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0016227 -Label(s): hereditary episodic ataxia -- 'hereditary episodic ataxia' SubClassOf 'hereditary ataxia' -+ 'hereditary episodic ataxia' SubClassOf 'hereditary ataxia' - -Class: http://www.ebi.ac.uk/efo/EFO_0002917 -Label(s): ovarian serous adenocarcinoma -- 'ovarian serous adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' -+ 'ovarian serous adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0016241 -Label(s): alternating hemiplegia of childhood -- 'alternating hemiplegia of childhood' SubClassOf 'alternating hemiplegia' -+ 'alternating hemiplegia of childhood' SubClassOf 'alternating hemiplegia' - -Class: http://purl.obolibrary.org/obo/MONDO_0016244 -Label(s): atypical hemolytic-uremic syndrome -- 'atypical hemolytic-uremic syndrome' SubClassOf 'hereditary hemolytic uremic syndrome' -+ 'atypical hemolytic-uremic syndrome' SubClassOf 'hereditary hemolytic uremic syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0024550 -Label(s): frontometaphyseal dysplasia 1 -- 'frontometaphyseal dysplasia 1' SubClassOf 'frontometaphyseal dysplasia' -+ 'frontometaphyseal dysplasia 1' SubClassOf 'frontometaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0016248 -Label(s): familial ovarian cancer -- 'familial ovarian cancer' SubClassOf 'ovarian cancer' -+ 'familial ovarian cancer' SubClassOf 'ovarian cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0859234 -Label(s): agammaglobulinemia 8b, autosomal recessive -- 'agammaglobulinemia 8b, autosomal recessive' SubClassOf 'agammaglobulinemia' -+ 'agammaglobulinemia 8b, autosomal recessive' SubClassOf 'agammaglobulinemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0859228 -Label(s): combined oxidative phosphorylation deficiency 55 -- 'combined oxidative phosphorylation deficiency 55' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation deficiency 55' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0010590 -Label(s): FG syndrome 1 -- 'FG syndrome 1' SubClassOf 'fg syndrome' -+ 'FG syndrome 1' SubClassOf 'fg syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010589 -Label(s): Aarskog-Scott syndrome, X-linked -- 'Aarskog-Scott syndrome, X-linked' SubClassOf 'faciodigitogenital syndrome' -+ 'Aarskog-Scott syndrome, X-linked' SubClassOf 'faciodigitogenital syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010585 -Label(s): X-linked hypohidrotic ectodermal dysplasia -- 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' -+ 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010576 -Label(s): X-linked mixed hearing loss with perilymphatic gusher -- 'X-linked mixed hearing loss with perilymphatic gusher' SubClassOf 'X-linked nonsyndromic hearing loss' -+ 'X-linked mixed hearing loss with perilymphatic gusher' SubClassOf 'X-linked nonsyndromic hearing loss' -+ 'X-linked mixed hearing loss with perilymphatic gusher' SubClassOf 'prelingual non-syndromic genetic hearing loss' ++ 'Asperger syndrome, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Asperger syndrome') ++ 'Asperger syndrome, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Asperger syndrome' + +Class: http://purl.obolibrary.org/obo/MONDO_0859295 +Label(s): neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties +- 'neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties' SubClassOf 'Neurodevelopmental disorder' ++ 'neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties' SubClassOf 'Mendelian neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0859286 +Label(s): neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures +- 'neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures' SubClassOf 'Neurodevelopmental disorder' ++ 'neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures' SubClassOf 'Mendelian neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0859274 +Label(s): neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies +- 'neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies' SubClassOf 'Neurodevelopmental disorder' ++ 'neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies' SubClassOf 'Mendelian neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0859211 +Label(s): neurodevelopmental disorder with hyperkinetic movements and dyskinesia +- 'neurodevelopmental disorder with hyperkinetic movements and dyskinesia' SubClassOf 'Neurodevelopmental disorder' ++ 'neurodevelopmental disorder with hyperkinetic movements and dyskinesia' SubClassOf 'Mendelian neurodevelopmental disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0859201 +Label(s): neurodevelopmental disorder with impaired language and ataxia and with or without seizures +- 'neurodevelopmental disorder with impaired language and ataxia and with or without seizures' SubClassOf 'Neurodevelopmental disorder' ++ 'neurodevelopmental disorder with impaired language and ataxia and with or without seizures' SubClassOf 'Mendelian neurodevelopmental disorder' Class: http://purl.obolibrary.org/obo/MONDO_0010574 Label(s): syndromic X-linked intellectual disability 5 - 'syndromic X-linked intellectual disability 5' SubClassOf 'disease has major feature' some 'central nervous system malformation' -- 'syndromic X-linked intellectual disability 5' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' -+ 'syndromic X-linked intellectual disability 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' -+ 'syndromic X-linked intellectual disability 5' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0010571 -Label(s): otopalatodigital syndrome type 2 -- 'otopalatodigital syndrome type 2' SubClassOf 'otopalatodigital syndrome' -+ 'otopalatodigital syndrome type 2' SubClassOf 'otopalatodigital syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010570 -Label(s): craniofrontonasal syndrome -- 'craniofrontonasal syndrome' SubClassOf 'syndromic disease' -+ 'craniofrontonasal syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010563 -Label(s): blue cone monochromacy -- 'blue cone monochromacy' SubClassOf 'X-linked recessive disease' -+ 'blue cone monochromacy' SubClassOf 'X-linked recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010559 -Label(s): MASA syndrome -- 'MASA syndrome' SubClassOf 'L1 syndrome' -+ 'MASA syndrome' SubClassOf 'L1 syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010554 -Label(s): Abruzzo-Erickson syndrome -- 'Abruzzo-Erickson syndrome' SubClassOf 'syndromic disease' -+ 'Abruzzo-Erickson syndrome' SubClassOf 'syndromic disease' ++ 'syndromic X-linked intellectual disability 5' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0011775 Label(s): nasopharyngeal carcinoma, susceptibility to, 1 - 'nasopharyngeal carcinoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'nasopharyngeal carcinoma' -+ 'nasopharyngeal carcinoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'nasopharyngeal carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0010547 -Label(s): X-linked progressive cerebellar ataxia -- 'X-linked progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' -+ 'X-linked progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010537 -Label(s): Borjeson-Forssman-Lehmann syndrome -- 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'X-linked syndromic intellectual disability' -+ 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'X-linked syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0010532 -Label(s): infantile-onset X-linked spinal muscular atrophy -- 'infantile-onset X-linked spinal muscular atrophy' SubClassOf 'hereditary motor neuron disease' -- 'infantile-onset X-linked spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' -+ 'infantile-onset X-linked spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0008726 -Label(s): Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis -- 'Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis' SubClassOf 'Antley-Bixler syndrome' -+ 'Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis' SubClassOf 'Antley-Bixler syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010529 -Label(s): X-linked spinocerebellar ataxia type 3 -- 'X-linked spinocerebellar ataxia type 3' SubClassOf 'X-linked cerebellar ataxia' -+ 'X-linked spinocerebellar ataxia type 3' SubClassOf 'X-linked cerebellar ataxia' ++ 'nasopharyngeal carcinoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'nasopharyngeal carcinoma' Class: http://www.ebi.ac.uk/efo/EFO_0009430 Label(s): neuralgia - 'neuralgia' EquivalentTo 'peripheral neuropathy' and ('disease has major feature' some 'Pain') -+ 'neuralgia' EquivalentTo 'peripheral neuropathy' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Pain') - -Class: http://purl.obolibrary.org/obo/GO_0042403 -Label(s): thyroid hormone metabolic process -- 'thyroid hormone metabolic process' SubClassOf 'organonitrogen compound metabolic process' ++ 'neuralgia' EquivalentTo 'peripheral neuropathy' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Pain') Class: http://purl.obolibrary.org/obo/MONDO_0800453 Label(s): juvenile absence epilepsy -- 'juvenile absence epilepsy' SubClassOf 'predisposes towards' some 'juvenile absence epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0033673 -Label(s): spermatogenic failure 46 -- 'spermatogenic failure 46' SubClassOf 'azoospermia' -+ 'spermatogenic failure 46' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0033671 -Label(s): spermatogenic failure 45 -- 'spermatogenic failure 45' SubClassOf 'azoospermia' -+ 'spermatogenic failure 45' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0033670 -Label(s): hearing loss, autosomal recessive 116 -- 'hearing loss, autosomal recessive 116' SubClassOf 'hearing loss, autosomal recessive' -+ 'hearing loss, autosomal recessive 116' SubClassOf 'hearing loss, autosomal recessive' - -Class: http://purl.obolibrary.org/obo/MONDO_0033668 -Label(s): hearing loss, autosomal dominant 79 -- 'hearing loss, autosomal dominant 79' SubClassOf 'autosomal dominant nonsyndromic hearing loss' -+ 'hearing loss, autosomal dominant 79' SubClassOf 'autosomal dominant nonsyndromic hearing loss' - -Class: http://purl.obolibrary.org/obo/MONDO_0033665 -Label(s): hearing loss, autosomal dominant 78 -- 'hearing loss, autosomal dominant 78' SubClassOf 'autosomal dominant nonsyndromic hearing loss' -+ 'hearing loss, autosomal dominant 78' SubClassOf 'autosomal dominant nonsyndromic hearing loss' - -Class: http://purl.obolibrary.org/obo/MONDO_0800438 -Label(s): developmental delay with short stature, dysmorphic facial features, and sparse hair 1 -- 'developmental delay with short stature, dysmorphic facial features, and sparse hair 1' SubClassOf 'developmental delay with short stature, dysmorphic facial features, and sparse hair' -+ 'developmental delay with short stature, dysmorphic facial features, and sparse hair 1' SubClassOf 'developmental delay with short stature, dysmorphic facial features, and sparse hair' - -Class: http://purl.obolibrary.org/obo/MONDO_0033657 -Label(s): leukodystrophy, hypomyelinating, 20 -- 'leukodystrophy, hypomyelinating, 20' SubClassOf 'leukodystrophy' -+ 'leukodystrophy, hypomyelinating, 20' SubClassOf 'leukodystrophy' +- 'juvenile absence epilepsy' SubClassOf 'hereditary neurological disease' ++ 'juvenile absence epilepsy' SubClassOf 'generalised epilepsy' Class: http://purl.obolibrary.org/obo/MONDO_0800425 Label(s): coronary artery disease, severe, susceptibility to - 'coronary artery disease, severe, susceptibility to' SubClassOf 'predisposes towards' some 'coronary artery disease' -+ 'coronary artery disease, severe, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'coronary artery disease' ++ 'coronary artery disease, severe, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease' Class: http://purl.obolibrary.org/obo/MONDO_0800421 Label(s): cardiomyopathy, familial hypertrophic, 4, susceptibility to - 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf 'predisposes towards' some 'hypertrophic cardiomyopathy' -+ 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0033643 -Label(s): inflammatory bowel disease 30 -- 'inflammatory bowel disease 30' SubClassOf 'inflammatory bowel disease' -+ 'inflammatory bowel disease 30' SubClassOf 'inflammatory bowel disease' ++ 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hypertrophic cardiomyopathy' Class: http://purl.obolibrary.org/obo/MONDO_0800414 Label(s): aplastic anemia, susceptibility to - 'aplastic anemia, susceptibility to' SubClassOf 'predisposes towards' some 'aplastic anemia' -+ 'aplastic anemia, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'aplastic anemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0001499 -Label(s): retroperitoneal lymphoma -- 'retroperitoneal lymphoma' SubClassOf 'lymphoma' -+ 'retroperitoneal lymphoma' SubClassOf 'lymphoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0016308 -Label(s): Niemann-Pick disease type C, late infantile neurologic onset -- 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' -+ 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' - -Class: http://purl.obolibrary.org/obo/MONDO_0016309 -Label(s): Niemann-Pick disease type C, juvenile neurologic onset -- 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'Niemann-Pick disease type C' -+ 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'Niemann-Pick disease type C' - -Class: http://purl.obolibrary.org/obo/MONDO_0033631 -Label(s): combined oxidative phosphorylation deficiency 51 -- 'combined oxidative phosphorylation deficiency 51' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation deficiency 51' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0033620 -Label(s): myofibrillar myopathy 10 -- 'myofibrillar myopathy 10' SubClassOf 'myofibrillar myopathy' -+ 'myofibrillar myopathy 10' SubClassOf 'myofibrillar myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0033615 -Label(s): coenzyme q10 deficiency, primary, 9 -- 'coenzyme q10 deficiency, primary, 9' SubClassOf 'coenzyme Q10 deficiency' -+ 'coenzyme q10 deficiency, primary, 9' SubClassOf 'coenzyme Q10 deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0016344 -Label(s): hydranencephaly -- 'hydranencephaly' SubClassOf 'encephaloclastic disorder' -+ 'hydranencephaly' SubClassOf 'encephaloclastic disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0015867 -Label(s): vaginal carcinoma -- 'vaginal carcinoma' SubClassOf 'carcinoma' -+ 'vaginal carcinoma' SubClassOf 'carcinoma' ++ 'aplastic anemia, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'aplastic anemia' Class: http://purl.obolibrary.org/obo/MONDO_0002527 Label(s): keratoacanthoma - 'keratoacanthoma' SubClassOf 'disease shares features of' some 'squamous cell carcinoma' -+ 'keratoacanthoma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'squamous cell carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0016383 -Label(s): nephrogenic diabetes insipidus -- 'nephrogenic diabetes insipidus' SubClassOf 'diabetes insipidus' -+ 'nephrogenic diabetes insipidus' SubClassOf 'diabetes insipidus' - -Class: http://purl.obolibrary.org/obo/MONDO_0002533 -Label(s): papillary adenoma -- 'papillary adenoma' SubClassOf 'adenoma' -+ 'papillary adenoma' SubClassOf 'adenoma' - -Class: http://purl.obolibrary.org/obo/GO_0009116 -Label(s): nucleoside metabolic process -- 'nucleoside metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/GO_0009101 -Label(s): glycoprotein biosynthetic process -- 'glycoprotein biosynthetic process' SubClassOf 'organonitrogen compound biosynthetic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0010487 -Label(s): intellectual disability, X-linked 99 -- 'intellectual disability, X-linked 99' SubClassOf 'non-syndromic X-linked intellectual disability' -+ 'intellectual disability, X-linked 99' SubClassOf 'non-syndromic X-linked intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0010485 -Label(s): X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome -- 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf 'X-linked disease' -- 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf 'syndromic microphthalmia' -+ 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf 'X-linked disease' -+ 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf 'syndromic microphthalmia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010478 -Label(s): SLC35A2-congenital disorder of glycosylation -- 'SLC35A2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' -+ 'SLC35A2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' - -Class: http://purl.obolibrary.org/obo/MONDO_0010475 -Label(s): X-linked central congenital hypothyroidism with late-onset testicular enlargement -- 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'syndromic disease' -+ 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'syndromic disease' ++ 'keratoacanthoma' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'squamous cell carcinoma' + +Class: http://purl.obolibrary.org/obo/MONDO_0958279 +Label(s): megalencephaly-polydactyly syndrome ++ 'megalencephaly-polydactyly syndrome' SubClassOf 'genetic disorder' Class: http://purl.obolibrary.org/obo/MONDO_0010464 Label(s): X-linked cerebral-cerebellar-coloboma syndrome syndrome - 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' ++ 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' -Class: http://purl.obolibrary.org/obo/MONDO_0003931 -Label(s): childhood optic tract astrocytoma -- 'childhood optic tract astrocytoma' SubClassOf 'optic tract astrocytoma' -+ 'childhood optic tract astrocytoma' SubClassOf 'optic tract astrocytoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0010437 -Label(s): severe X-linked mitochondrial encephalomyopathy -- 'severe X-linked mitochondrial encephalomyopathy' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'severe X-linked mitochondrial encephalomyopathy' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0021458 -Label(s): benign neoplasm of penis -- 'benign neoplasm of penis' SubClassOf 'benign male reproductive system neoplasm' -+ 'benign neoplasm of penis' SubClassOf 'benign male reproductive system neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0958236 -Label(s): Ullrich congenital muscular dystrophy 1C -- 'Ullrich congenital muscular dystrophy 1C' SubClassOf 'Ullrich congenital muscular dystrophy' -+ 'Ullrich congenital muscular dystrophy 1C' SubClassOf 'Ullrich congenital muscular dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0010426 -Label(s): X-linked endothelial corneal dystrophy -- 'X-linked endothelial corneal dystrophy' SubClassOf 'posterior corneal dystrophy' -+ 'X-linked endothelial corneal dystrophy' SubClassOf 'posterior corneal dystrophy' +Class: http://purl.obolibrary.org/obo/MONDO_0958227 +Label(s): polydactyly-macrocephaly syndrome ++ 'polydactyly-macrocephaly syndrome' SubClassOf 'genetic disorder' Class: http://purl.obolibrary.org/obo/MONDO_0010417 Label(s): syndromic X-linked intellectual disability Najm type - 'syndromic X-linked intellectual disability Najm type' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'syndromic X-linked intellectual disability Najm type' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0007750 -Label(s): hypercholesterolemia, familial, 1 -- 'hypercholesterolemia, familial, 1' SubClassOf 'familial hypercholesterolemia' -+ 'hypercholesterolemia, familial, 1' SubClassOf 'familial hypercholesterolemia' - -Class: http://www.ebi.ac.uk/efo/EFO_0009322 -Label(s): proliferative diabetic retinopathy -- 'proliferative diabetic retinopathy' SubClassOf 'diabetic retinopathy' -+ 'proliferative diabetic retinopathy' SubClassOf 'diabetic retinopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0800372 -Label(s): Joubert syndrome 29 -- 'Joubert syndrome 29' SubClassOf 'Joubert syndrome' -+ 'Joubert syndrome 29' SubClassOf 'Joubert syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010261 -Label(s): microphthalmia, syndromic 2 -- 'microphthalmia, syndromic 2' SubClassOf 'syndromic microphthalmia' -+ 'microphthalmia, syndromic 2' SubClassOf 'syndromic microphthalmia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010263 -Label(s): Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome -- 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'syndromic disease' -+ 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0033563 -Label(s): retinitis pigmentosa 90 -- 'retinitis pigmentosa 90' SubClassOf 'retinitis pigmentosa' -+ 'retinitis pigmentosa 90' SubClassOf 'retinitis pigmentosa' - -Class: http://purl.obolibrary.org/obo/MONDO_0033556 -Label(s): muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 -- 'muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' -+ 'muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' - -Class: http://purl.obolibrary.org/obo/MONDO_0005374 -Label(s): bone marrow neoplasm -- 'bone marrow neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' -+ 'bone marrow neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0033548 -Label(s): myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies -- 'myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies' SubClassOf 'congenital myopathy' -+ 'myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies' SubClassOf 'congenital myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0033545 -Label(s): mitochondrial DNA depletion syndrome 19 -- 'mitochondrial DNA depletion syndrome 19' SubClassOf 'mitochondrial DNA depletion syndrome' -+ 'mitochondrial DNA depletion syndrome 19' SubClassOf 'mitochondrial DNA depletion syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0033537 -Label(s): combined oxidative phosphorylation deficiency 47 -- 'combined oxidative phosphorylation deficiency 47' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation deficiency 47' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0016408 -Label(s): permanent congenital hypothyroidism -- 'permanent congenital hypothyroidism' SubClassOf 'congenital hypothyroidism' -+ 'permanent congenital hypothyroidism' SubClassOf 'congenital hypothyroidism' - -Class: http://purl.obolibrary.org/obo/MONDO_0033534 -Label(s): combined oxidative phosphorylation deficiency 46 -- 'combined oxidative phosphorylation deficiency 46' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation deficiency 46' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0033533 -Label(s): combined oxidative phosphorylation deficiency 45 -- 'combined oxidative phosphorylation deficiency 45' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation deficiency 45' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0016418 -Label(s): multiple system atrophy, cerebellar type -- 'multiple system atrophy, cerebellar type' SubClassOf 'multiple system atrophy' -+ 'multiple system atrophy, cerebellar type' SubClassOf 'multiple system atrophy' - -Class: http://purl.obolibrary.org/obo/GO_0009081 -Label(s): branched-chain amino acid metabolic process -- 'branched-chain amino acid metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0005301 -Label(s): multiple sclerosis -+ 'multiple sclerosis' SubClassOf 'neuroinflammatory disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0016485 -Label(s): Usher syndrome type 3 -- 'Usher syndrome type 3' SubClassOf 'Usher syndrome' -+ 'Usher syndrome type 3' SubClassOf 'Usher syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0002132 -Label(s): skull cancer -- 'skull cancer' SubClassOf 'head and neck malignant neoplasia' -- 'skull cancer' SubClassOf 'skull neoplasm' -+ 'skull cancer' SubClassOf 'head and neck malignant neoplasia' -+ 'skull cancer' SubClassOf 'skull neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0030785 -Label(s): intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly -- 'intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly' SubClassOf 'autosomal recessive non-syndromic intellectual disability' -+ 'intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly' SubClassOf 'autosomal recessive non-syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0010396 -Label(s): developmental and epileptic encephalopathy, 2 -- 'developmental and epileptic encephalopathy, 2' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 2' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0010393 -Label(s): intellectual disability, X-linked 93 -- 'intellectual disability, X-linked 93' SubClassOf 'non-syndromic X-linked intellectual disability' -+ 'intellectual disability, X-linked 93' SubClassOf 'non-syndromic X-linked intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0021508 -Label(s): benign neoplasm of epicardium -- 'benign neoplasm of epicardium' SubClassOf 'benign neoplasm of heart' -+ 'benign neoplasm of epicardium' SubClassOf 'benign neoplasm of heart' - -Class: http://purl.obolibrary.org/obo/MONDO_0021509 -Label(s): benign neoplasm of myocardium -- 'benign neoplasm of myocardium' SubClassOf 'benign neoplasm of heart' -+ 'benign neoplasm of myocardium' SubClassOf 'benign neoplasm of heart' - -Class: http://purl.obolibrary.org/obo/MONDO_0013869 -Label(s): adenine phosphoribosyltransferase deficiency -- 'adenine phosphoribosyltransferase deficiency' SubClassOf 'inborn disorder of purine metabolism' -+ 'adenine phosphoribosyltransferase deficiency' SubClassOf 'inborn disorder of purine metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0958184 -Label(s): epidermolytic hyperkeratosis 2 -- 'epidermolytic hyperkeratosis 2' SubClassOf 'epidermolytic ichthyosis' -+ 'epidermolytic hyperkeratosis 2' SubClassOf 'epidermolytic ichthyosis' - -Class: http://www.ebi.ac.uk/efo/EFO_0009297 -Label(s): fg syndrome -- 'fg syndrome' SubClassOf 'syndromic disease' -+ 'fg syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010359 -Label(s): Dent disease type 2 -- 'Dent disease type 2' SubClassOf 'Dent disease' -+ 'Dent disease type 2' SubClassOf 'Dent disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010338 -Label(s): X-linked distal spinal muscular atrophy type 3 -- 'X-linked distal spinal muscular atrophy type 3' SubClassOf 'spinal muscular atrophy' -+ 'X-linked distal spinal muscular atrophy type 3' SubClassOf 'spinal muscular atrophy' ++ 'syndromic X-linked intellectual disability Najm type' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0010337 Label(s): X-linked intellectual disability-cerebellar hypoplasia syndrome - 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -- 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'X-linked syndromic intellectual disability' -+ 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' -+ 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'X-linked syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0010336 -Label(s): orofaciodigital syndrome VIII -- 'orofaciodigital syndrome VIII' SubClassOf 'orofaciodigital syndrome' -+ 'orofaciodigital syndrome VIII' SubClassOf 'orofaciodigital syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010328 -Label(s): alpha-thalassemia-myelodysplastic syndrome -- 'alpha-thalassemia-myelodysplastic syndrome' SubClassOf 'syndromic disease' -+ 'alpha-thalassemia-myelodysplastic syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010325 -Label(s): X-linked intellectual disability, Stocco dos Santos type -- 'X-linked intellectual disability, Stocco dos Santos type' SubClassOf 'X-linked syndromic intellectual disability' -+ 'X-linked intellectual disability, Stocco dos Santos type' SubClassOf 'X-linked syndromic intellectual disability' - -Class: http://www.ebi.ac.uk/efo/EFO_0009255 -Label(s): cecal neoplasm -- 'cecal neoplasm' SubClassOf 'cecal disorder' -+ 'cecal neoplasm' SubClassOf 'cecal disorder' ++ 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0001551 Label(s): ulceration of vulva - 'ulceration of vulva' SubClassOf 'disease has major feature' some 'Genital ulcers' - 'ulceration of vulva' EquivalentTo 'disease' and ('disease has location' some 'mammalian vulva') and ('disease has major feature' some 'Genital ulcers') -+ 'ulceration of vulva' EquivalentTo 'disease' and ('disease has location' some 'mammalian vulva') and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Genital ulcers') -+ 'ulceration of vulva' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Genital ulcers' - -Class: http://purl.obolibrary.org/obo/MONDO_0015974 -Label(s): severe combined immunodeficiency -- 'severe combined immunodeficiency' SubClassOf 'combined immunodeficiency' -+ 'severe combined immunodeficiency' SubClassOf 'combined immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0033482 -Label(s): spinocerebellar ataxia 47 -- 'spinocerebellar ataxia 47' SubClassOf 'autosomal dominant cerebellar ataxia' -+ 'spinocerebellar ataxia 47' SubClassOf 'autosomal dominant cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0005299 -Label(s): brain ischemia -- 'brain ischemia' SubClassOf 'cerebrovascular disorder' -+ 'brain ischemia' SubClassOf 'cerebrovascular disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0015942 -Label(s): frontometaphyseal dysplasia -- 'frontometaphyseal dysplasia' SubClassOf 'otopalatodigital syndrome spectrum disorder' -+ 'frontometaphyseal dysplasia' SubClassOf 'otopalatodigital syndrome spectrum disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0011414 -Label(s): Peters anomaly -- 'Peters anomaly' SubClassOf 'anterior segment dysgenesis' -+ 'Peters anomaly' SubClassOf 'anterior segment dysgenesis' - -Class: http://purl.obolibrary.org/obo/MONDO_0015926 -Label(s): pneumoconiosis -- 'pneumoconiosis' SubClassOf 'interstitial lung disease' -+ 'pneumoconiosis' SubClassOf 'interstitial lung disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012804 -Label(s): hypertrophic cardiomyopathy 12 -- 'hypertrophic cardiomyopathy 12' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'hypertrophic cardiomyopathy 12' SubClassOf 'familial hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0000397 -Label(s): ataxic cerebral palsy -- 'ataxic cerebral palsy' SubClassOf 'cerebral palsy' -+ 'ataxic cerebral palsy' SubClassOf 'cerebral palsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0016537 -Label(s): lymphoproliferative syndrome -- 'lymphoproliferative syndrome' SubClassOf 'inborn error of immunity' -+ 'lymphoproliferative syndrome' SubClassOf 'inborn error of immunity' ++ 'ulceration of vulva' EquivalentTo 'disease' and ('disease has location' some 'mammalian vulva') and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Genital ulcers') ++ 'ulceration of vulva' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Genital ulcers' + +Class: http://purl.obolibrary.org/obo/MONDO_0015985 +Label(s): bone dysplasia, Azouz type +- 'bone dysplasia, Azouz type' SubClassOf 'skeletal dysplasia' ++ 'bone dysplasia, Azouz type' SubClassOf http://www.w3.org/2002/07/owl#Thing Class: http://purl.obolibrary.org/obo/MONDO_0016543 Label(s): hyperphenylalaninemia due to tetrahydrobiopterin deficiency - 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf 'disease shares features of' some 'phenylketonuria' -+ 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'phenylketonuria' - -Class: http://purl.obolibrary.org/obo/MONDO_0016572 -Label(s): central bilateral macrogyria -- 'central bilateral macrogyria' SubClassOf 'cerebral cortical dysplasia' -+ 'central bilateral macrogyria' SubClassOf 'cerebral cortical dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0016584 -Label(s): mandibuloacral dysplasia -- 'mandibuloacral dysplasia' SubClassOf 'hereditary lipodystrophy' -+ 'mandibuloacral dysplasia' SubClassOf 'hereditary lipodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0034022 -Label(s): Bethlem myopathy 2 -- 'Bethlem myopathy 2' SubClassOf 'Ehlers-Danlos syndrome' -+ 'Bethlem myopathy 2' SubClassOf 'Ehlers-Danlos syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010298 -Label(s): Lesch-Nyhan syndrome -- 'Lesch-Nyhan syndrome' SubClassOf 'hypoxanthine-guanine phosphoribosyltransferase deficiency' -+ 'Lesch-Nyhan syndrome' SubClassOf 'hypoxanthine-guanine phosphoribosyltransferase deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0010297 -Label(s): FG syndrome 2 -- 'FG syndrome 2' SubClassOf 'fg syndrome' -+ 'FG syndrome 2' SubClassOf 'fg syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010294 -Label(s): X-linked severe congenital neutropenia -- 'X-linked severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' -+ 'X-linked severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010293 -Label(s): ectodermal dysplasia and immune deficiency -- 'ectodermal dysplasia and immune deficiency' SubClassOf 'inborn error of immunity' -+ 'ectodermal dysplasia and immune deficiency' SubClassOf 'inborn error of immunity' - -Class: http://purl.obolibrary.org/obo/MONDO_0010311 -Label(s): Becker muscular dystrophy -- 'Becker muscular dystrophy' SubClassOf 'muscular dystrophy' -+ 'Becker muscular dystrophy' SubClassOf 'muscular dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0010268 -Label(s): X-linked lissencephaly with abnormal genitalia -- 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'lissencephaly spectrum disorders' -- 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'X-linked disease' -+ 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'X-linked disease' -+ 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'lissencephaly spectrum disorders' - -Class: http://purl.obolibrary.org/obo/MONDO_0010266 -Label(s): intellectual disability, X-linked 58 -- 'intellectual disability, X-linked 58' SubClassOf 'non-syndromic X-linked intellectual disability' -+ 'intellectual disability, X-linked 58' SubClassOf 'non-syndromic X-linked intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0011451 -Label(s): cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 -- 'cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1' SubClassOf 'fatal infantile encephalocardiomyopathy' -+ 'cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1' SubClassOf 'fatal infantile encephalocardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0010258 -Label(s): MEHMO syndrome -- 'MEHMO syndrome' SubClassOf 'X-linked syndromic intellectual disability' -+ 'MEHMO syndrome' SubClassOf 'X-linked syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0010256 -Label(s): intellectual disability, X-linked 21 -- 'intellectual disability, X-linked 21' SubClassOf 'non-syndromic X-linked intellectual disability' -+ 'intellectual disability, X-linked 21' SubClassOf 'non-syndromic X-linked intellectual disability' ++ 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'phenylketonuria' + +Class: http://purl.obolibrary.org/obo/HP_0040165 +Label(s): Periostitis +- 'Periostitis' SubClassOf 'Abnormal bone structure' ++ 'Periostitis' SubClassOf 'Abnormal skeletal morphology' + +Class: http://purl.obolibrary.org/obo/MONDO_0010305 +Label(s): creatine transporter deficiency +- 'creatine transporter deficiency' SubClassOf 'congenital nervous system disorder' Class: http://purl.obolibrary.org/obo/MONDO_0010255 Label(s): diabetes mellitus, insulin-dependent, X-linked, susceptibility to - 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'type 1 diabetes mellitus') - 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' SubClassOf 'predisposes towards' some 'type 1 diabetes mellitus' -+ 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'type 1 diabetes mellitus' -+ 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'type 1 diabetes mellitus') - -Class: http://purl.obolibrary.org/obo/MONDO_0010233 -Label(s): heterotopia, periventricular, X-linked dominant -- 'heterotopia, periventricular, X-linked dominant' SubClassOf 'periventricular nodular heterotopia' -+ 'heterotopia, periventricular, X-linked dominant' SubClassOf 'periventricular nodular heterotopia' - -Class: http://www.ebi.ac.uk/efo/EFO_0009160 -Label(s): stromme syndrome -- 'stromme syndrome' SubClassOf 'primary ciliary dyskinesia' -+ 'stromme syndrome' SubClassOf 'primary ciliary dyskinesia' - -Class: http://purl.obolibrary.org/obo/MONDO_0021657 -Label(s): ovarian sex cord-stromal tumor -- 'ovarian sex cord-stromal tumor' SubClassOf 'sex cord-stromal tumor' -+ 'ovarian sex cord-stromal tumor' SubClassOf 'sex cord-stromal tumor' - -Class: http://purl.obolibrary.org/obo/MONDO_0010225 -Label(s): Dent disease type 1 -- 'Dent disease type 1' SubClassOf 'Dent disease' -+ 'Dent disease type 1' SubClassOf 'Dent disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010224 -Label(s): corpus callosum agenesis-abnormal genitalia syndrome -- 'corpus callosum agenesis-abnormal genitalia syndrome' SubClassOf 'syndromic disease' -+ 'corpus callosum agenesis-abnormal genitalia syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010209 -Label(s): xanthinuria type I -- 'xanthinuria type I' SubClassOf 'hereditary xanthinuria' -+ 'xanthinuria type I' SubClassOf 'hereditary xanthinuria' - -Class: http://purl.obolibrary.org/obo/MONDO_0034054 -Label(s): severe combined immunodeficiency due to CD70 deficiency -- 'severe combined immunodeficiency due to CD70 deficiency' SubClassOf 'lymphoproliferative syndrome' -+ 'severe combined immunodeficiency due to CD70 deficiency' SubClassOf 'lymphoproliferative syndrome' ++ 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'type 1 diabetes mellitus') ++ 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'type 1 diabetes mellitus' Class: http://purl.obolibrary.org/obo/MONDO_0800174 Label(s): encephalitis, acute, infection-induced, susceptibility to - 'encephalitis, acute, infection-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'encephalopathy, acute, infection-induced') - 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf 'predisposes towards' some 'encephalopathy, acute, infection-induced' -+ 'encephalitis, acute, infection-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'encephalopathy, acute, infection-induced') -+ 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'encephalopathy, acute, infection-induced' - -Class: http://purl.obolibrary.org/obo/MONDO_0015884 -Label(s): autosomal dominant hypohidrotic ectodermal dysplasia -- 'autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' -+ 'autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0015883 -Label(s): hidrotic ectodermal dysplasia, Halal type -- 'hidrotic ectodermal dysplasia, Halal type' SubClassOf 'ectodermal dysplasia syndrome' -+ 'hidrotic ectodermal dysplasia, Halal type' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010362 -Label(s): glycogen storage disease IXd -- 'glycogen storage disease IXd' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disease IXd' SubClassOf 'disorder of glycogen metabolism' ++ 'encephalitis, acute, infection-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'encephalopathy, acute, infection-induced') ++ 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'encephalopathy, acute, infection-induced' Class: http://purl.obolibrary.org/obo/MONDO_0800153 Label(s): urea cycle disorder or inherited hyperammonemia - 'urea cycle disorder or inherited hyperammonemia' SubClassOf 'disease has major feature' some 'Hyperammonemia' -+ 'urea cycle disorder or inherited hyperammonemia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperammonemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010379 -Label(s): Brunner syndrome -- 'Brunner syndrome' SubClassOf 'X-linked recessive disease' -+ 'Brunner syndrome' SubClassOf 'X-linked recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0033374 -Label(s): developmental and epileptic encephalopathy, 65 -- 'developmental and epileptic encephalopathy, 65' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 65' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0033370 -Label(s): developmental and epileptic encephalopathy, 61 -- 'developmental and epileptic encephalopathy, 61' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 61' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://www.ebi.ac.uk/efo/EFO_0007203 -Label(s): cervicofacial actinomycosis -- 'cervicofacial actinomycosis' SubClassOf 'actinomycosis' -+ 'cervicofacial actinomycosis' SubClassOf 'actinomycosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0033363 -Label(s): developmental and epileptic encephalopathy, 54 -- 'developmental and epileptic encephalopathy, 54' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 54' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0800131 -Label(s): hyper-IgE recurrent infection syndrome 4A, autosomal dominant -- 'hyper-IgE recurrent infection syndrome 4A, autosomal dominant' SubClassOf 'hyper-IgE syndrome' -+ 'hyper-IgE recurrent infection syndrome 4A, autosomal dominant' SubClassOf 'hyper-IgE syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010383 -Label(s): fragile X syndrome -- 'fragile X syndrome' SubClassOf 'syndromic disease' -+ 'fragile X syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0016612 -Label(s): X-linked cerebellar ataxia -- 'X-linked cerebellar ataxia' SubClassOf 'X-linked disease' -+ 'X-linked cerebellar ataxia' SubClassOf 'X-linked disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0044725 -Label(s): combined immunodeficiency due to GINS1 deficiency -- 'combined immunodeficiency due to GINS1 deficiency' SubClassOf 'combined immunodeficiency' -+ 'combined immunodeficiency due to GINS1 deficiency' SubClassOf 'combined immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0002617 -Label(s): bone angiosarcoma -- 'bone angiosarcoma' SubClassOf 'bone sarcoma' -+ 'bone angiosarcoma' SubClassOf 'bone sarcoma' - -Class: http://purl.obolibrary.org/obo/GO_0019538 -Label(s): protein metabolic process -- 'protein metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://www.ebi.ac.uk/efo/EFO_0007285 -Label(s): Gerstmann syndrome -- 'Gerstmann syndrome' SubClassOf 'nervous system disease' -+ 'Gerstmann syndrome' SubClassOf 'nervous system disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010317 -Label(s): intellectual disability, X-linked, with or without seizures, arx-related -- 'intellectual disability, X-linked, with or without seizures, arx-related' SubClassOf 'non-syndromic X-linked intellectual disability' -+ 'intellectual disability, X-linked, with or without seizures, arx-related' SubClassOf 'non-syndromic X-linked intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0011010 -Label(s): Matthew-Wood syndrome -- 'Matthew-Wood syndrome' SubClassOf 'syndromic microphthalmia' -+ 'Matthew-Wood syndrome' SubClassOf 'syndromic microphthalmia' - -Class: http://purl.obolibrary.org/obo/MONDO_0011022 -Label(s): Potocki-Shaffer syndrome -- 'Potocki-Shaffer syndrome' SubClassOf 'partial deletion of the short arm of chromosome 11' -- 'Potocki-Shaffer syndrome' SubClassOf 'syndromic disease' -+ 'Potocki-Shaffer syndrome' SubClassOf 'partial deletion of the short arm of chromosome 11' -+ 'Potocki-Shaffer syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0011035 -Label(s): neurofibromatosis-Noonan syndrome -- 'neurofibromatosis-Noonan syndrome' SubClassOf 'rasopathy' -+ 'neurofibromatosis-Noonan syndrome' SubClassOf 'rasopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0011041 -Label(s): ectodermal dysplasia with natal teeth, Turnpenny type -- 'ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'ectodermal dysplasia syndrome' -+ 'ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0020854 -Label(s): Liddle syndrome 2 -- 'Liddle syndrome 2' SubClassOf 'Liddle syndrome' -+ 'Liddle syndrome 2' SubClassOf 'Liddle syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0020852 -Label(s): spermatogenic failure 31 -- 'spermatogenic failure 31' SubClassOf 'azoospermia' -+ 'spermatogenic failure 31' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0020850 -Label(s): intellectual disability, autosomal recessive 65 -- 'intellectual disability, autosomal recessive 65' SubClassOf 'autosomal recessive non-syndromic intellectual disability' -+ 'intellectual disability, autosomal recessive 65' SubClassOf 'autosomal recessive non-syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0010196 -Label(s): Werner syndrome -- 'Werner syndrome' SubClassOf 'progeroid syndrome' -+ 'Werner syndrome' SubClassOf 'progeroid syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010193 -Label(s): Weaver syndrome -- 'Weaver syndrome' SubClassOf 'overgrowth syndrome' -- 'Weaver syndrome' SubClassOf 'syndromic disease' -+ 'Weaver syndrome' SubClassOf 'overgrowth syndrome' -+ 'Weaver syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010190 -Label(s): pontocerebellar hypoplasia type 2A -- 'pontocerebellar hypoplasia type 2A' SubClassOf 'pontocerebellar hypoplasia type 2' -+ 'pontocerebellar hypoplasia type 2A' SubClassOf 'pontocerebellar hypoplasia type 2' - -Class: http://purl.obolibrary.org/obo/MONDO_0011051 -Label(s): lethal short-limb skeletal dysplasia, Al Gazali type -- 'lethal short-limb skeletal dysplasia, Al Gazali type' SubClassOf 'dysplastic cortical hyperostosis' -+ 'lethal short-limb skeletal dysplasia, Al Gazali type' SubClassOf 'dysplastic cortical hyperostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0020846 -Label(s): intellectual disability, autosomal recessive 64 -- 'intellectual disability, autosomal recessive 64' SubClassOf 'autosomal recessive non-syndromic intellectual disability' -+ 'intellectual disability, autosomal recessive 64' SubClassOf 'autosomal recessive non-syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0003017 -Label(s): malignant peritoneal solitary fibrous tumor -- 'malignant peritoneal solitary fibrous tumor' SubClassOf 'peritoneum cancer' -+ 'malignant peritoneal solitary fibrous tumor' SubClassOf 'peritoneum cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0010187 -Label(s): vitamin K-dependent clotting factors, combined deficiency of, type 1 -- 'vitamin K-dependent clotting factors, combined deficiency of, type 1' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' -+ 'vitamin K-dependent clotting factors, combined deficiency of, type 1' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0010185 -Label(s): methylmalonic aciduria and homocystinuria type cblD -- 'methylmalonic aciduria and homocystinuria type cblD' SubClassOf 'methylmalonic aciduria and homocystinuria' -+ 'methylmalonic aciduria and homocystinuria type cblD' SubClassOf 'methylmalonic aciduria and homocystinuria' - -Class: http://purl.obolibrary.org/obo/MONDO_0010183 -Label(s): methylmalonic aciduria and homocystinuria type cblF -- 'methylmalonic aciduria and homocystinuria type cblF' SubClassOf 'methylmalonic aciduria and homocystinuria' -+ 'methylmalonic aciduria and homocystinuria type cblF' SubClassOf 'methylmalonic aciduria and homocystinuria' ++ 'urea cycle disorder or inherited hyperammonemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperammonemia' + +Class: http://purl.obolibrary.org/obo/MONDO_0800129 +Label(s): autoinflammatory disease, X-linked ++ 'autoinflammatory disease, X-linked' SubClassOf 'hereditary disorder of connective tissue' Class: http://purl.obolibrary.org/obo/MONDO_0020836 Label(s): autism, susceptiblity to - 'autism, susceptiblity to' SubClassOf 'predisposes towards' some 'autism' - 'autism, susceptiblity to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'autism') -+ 'autism, susceptiblity to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autism') -+ 'autism, susceptiblity to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autism' - -Class: http://purl.obolibrary.org/obo/MONDO_0010178 -Label(s): congenital bilateral aplasia of vas deferens from CFTR mutation -- 'congenital bilateral aplasia of vas deferens from CFTR mutation' SubClassOf 'congenital bilateral absence of vas deferens' -+ 'congenital bilateral aplasia of vas deferens from CFTR mutation' SubClassOf 'congenital bilateral absence of vas deferens' ++ 'autism, susceptiblity to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism') ++ 'autism, susceptiblity to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism' Class: http://purl.obolibrary.org/obo/MONDO_0010176 Label(s): orofaciodigital syndrome type 6 -- 'orofaciodigital syndrome type 6' SubClassOf 'orofaciodigital syndrome' - 'orofaciodigital syndrome type 6' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'orofaciodigital syndrome type 6' SubClassOf 'orofaciodigital syndrome' -+ 'orofaciodigital syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' ++ 'orofaciodigital syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0010172 Label(s): VACTERL with hydrocephalus - 'VACTERL with hydrocephalus' SubClassOf 'disease shares features of' some 'VACTERL/vater association' -+ 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'VACTERL/vater association' - -Class: http://purl.obolibrary.org/obo/MONDO_0010171 -Label(s): Usher syndrome type 1C -- 'Usher syndrome type 1C' SubClassOf 'Usher syndrome type 1' -+ 'Usher syndrome type 1C' SubClassOf 'Usher syndrome type 1' - -Class: http://purl.obolibrary.org/obo/MONDO_0010168 -Label(s): Usher syndrome type 1 -- 'Usher syndrome type 1' SubClassOf 'Usher syndrome' -+ 'Usher syndrome type 1' SubClassOf 'Usher syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010167 -Label(s): urocanic aciduria -- 'urocanic aciduria' SubClassOf 'inborn disorder of histidine metabolism' -+ 'urocanic aciduria' SubClassOf 'inborn disorder of histidine metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0010159 -Label(s): mismatch repair cancer syndrome 1 -- 'mismatch repair cancer syndrome 1' SubClassOf 'mismatch repair cancer syndrome' -+ 'mismatch repair cancer syndrome 1' SubClassOf 'mismatch repair cancer syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010155 -Label(s): Dorfman-Chanarin disease -- 'Dorfman-Chanarin disease' SubClassOf 'neutral lipid storage disease' -+ 'Dorfman-Chanarin disease' SubClassOf 'neutral lipid storage disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010149 -Label(s): transcobalamin II deficiency -- 'transcobalamin II deficiency' SubClassOf 'inborn vitamin B12 deficiency' -- 'transcobalamin II deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' -+ 'transcobalamin II deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' - -Class: http://purl.obolibrary.org/obo/MONDO_0003690 -Label(s): adult anaplastic ependymoma -- 'adult anaplastic ependymoma' SubClassOf 'anaplastic ependymoma' -+ 'adult anaplastic ependymoma' SubClassOf 'anaplastic ependymoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0010134 -Label(s): Pendred syndrome -- 'Pendred syndrome' SubClassOf 'syndromic disease' -+ 'Pendred syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010132 -Label(s): familial thyroid dyshormonogenesis -- 'familial thyroid dyshormonogenesis' SubClassOf 'congenital hypothyroidism' -- 'familial thyroid dyshormonogenesis' SubClassOf 'metabolic disease' -+ 'familial thyroid dyshormonogenesis' SubClassOf 'inherited thyroid metabolism disease' -+ 'familial thyroid dyshormonogenesis' SubClassOf 'congenital hypothyroidism' - -Class: http://purl.obolibrary.org/obo/MONDO_0009035 -Label(s): craniometaphyseal dysplasia, autosomal recessive -- 'craniometaphyseal dysplasia, autosomal recessive' SubClassOf 'craniometaphyseal dysplasia' -- 'craniometaphyseal dysplasia, autosomal recessive' SubClassOf 'autosomal recessive disease' -+ 'craniometaphyseal dysplasia, autosomal recessive' SubClassOf 'craniometaphyseal dysplasia' -+ 'craniometaphyseal dysplasia, autosomal recessive' SubClassOf 'autosomal recessive disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010121 -Label(s): thrombocytopenia-absent radius syndrome -- 'thrombocytopenia-absent radius syndrome' SubClassOf 'syndromic disease' -+ 'thrombocytopenia-absent radius syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010120 -Label(s): thrombocytopenia 3 -- 'thrombocytopenia 3' SubClassOf 'inherited thrombocytopenia' -+ 'thrombocytopenia 3' SubClassOf 'inherited thrombocytopenia' - -Class: http://www.ebi.ac.uk/efo/EFO_0009043 -Label(s): Familial porphyria cutanea tarda -- 'Familial porphyria cutanea tarda' SubClassOf 'porphyria cutanea tarda' -+ 'Familial porphyria cutanea tarda' SubClassOf 'porphyria cutanea tarda' - -Class: http://purl.obolibrary.org/obo/MONDO_0010100 -Label(s): Tay-Sachs disease -- 'Tay-Sachs disease' SubClassOf 'GM2 gangliosidosis' -+ 'Tay-Sachs disease' SubClassOf 'GM2 gangliosidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0015792 -Label(s): transient congenital hypothyroidism -- 'transient congenital hypothyroidism' SubClassOf 'congenital hypothyroidism' -+ 'transient congenital hypothyroidism' SubClassOf 'congenital hypothyroidism' - -Class: http://purl.obolibrary.org/obo/MONDO_0015780 -Label(s): dyskeratosis congenita -- 'dyskeratosis congenita' SubClassOf 'ectodermal dysplasia syndrome' -+ 'dyskeratosis congenita' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0015776 -Label(s): rhizomelic chondrodysplasia punctata -- 'rhizomelic chondrodysplasia punctata' SubClassOf 'chondrodysplasia punctata' -+ 'rhizomelic chondrodysplasia punctata' SubClassOf 'chondrodysplasia punctata' - -Class: http://purl.obolibrary.org/obo/MONDO_0015772 -Label(s): trisomy 8q -- 'trisomy 8q' SubClassOf 'partial duplication of the long arm of chromosome 8' -+ 'trisomy 8q' SubClassOf 'partial duplication of the long arm of chromosome 8' ++ 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'VACTERL/vater association' + +Class: http://www.ebi.ac.uk/efo/EFO_0009082 +Label(s): Pilomatrixoma ++ 'Pilomatrixoma' SubClassOf 'hereditary skin disorder' Class: http://purl.obolibrary.org/obo/MONDO_0001673 Label(s): diarrheal disease - 'diarrheal disease' EquivalentTo 'disease' and ('disease has major feature' some 'Diarrhea') - 'diarrheal disease' SubClassOf 'disease has major feature' some 'Diarrhea' -+ 'diarrheal disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Diarrhea') -+ 'diarrheal disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Diarrhea' - -Class: http://purl.obolibrary.org/obo/MONDO_0015760 -Label(s): T-cell non-Hodgkin lymphoma -- 'T-cell non-Hodgkin lymphoma' SubClassOf 'non-Hodgkins lymphoma' -+ 'T-cell non-Hodgkin lymphoma' SubClassOf 'non-Hodgkins lymphoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0017719 -Label(s): gangliosidosis -- 'gangliosidosis' SubClassOf 'sphingolipidosis' -+ 'gangliosidosis' SubClassOf 'sphingolipidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0001680 -Label(s): vaginal mullerian papilloma -- 'vaginal mullerian papilloma' SubClassOf 'benign vaginal neoplasm' -+ 'vaginal mullerian papilloma' SubClassOf 'benign vaginal neoplasm' ++ 'diarrheal disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Diarrhea') ++ 'diarrheal disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Diarrhea' Class: http://www.ebi.ac.uk/efo/EFO_0007319 Label(s): hyperprolactinemia - 'hyperprolactinemia' SubClassOf 'disease has major feature' some 'Increased circulating prolactin concentration' -+ 'hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Increased circulating prolactin concentration' - -Class: http://purl.obolibrary.org/obo/MONDO_0800027 -Label(s): leukoencephalopathy, diffuse hereditary, with spheroids 1 -- 'leukoencephalopathy, diffuse hereditary, with spheroids 1' SubClassOf 'leukodystrophy' -+ 'leukoencephalopathy, diffuse hereditary, with spheroids 1' SubClassOf 'leukodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0800026 -Label(s): central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease -- 'central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease' SubClassOf 'autonomic nervous system disease' -+ 'central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease' SubClassOf 'autonomic nervous system disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0800025 -Label(s): Teebi hypertelorism syndrome 1 -- 'Teebi hypertelorism syndrome 1' SubClassOf 'Teebi hypertelorism syndrome' -+ 'Teebi hypertelorism syndrome 1' SubClassOf 'Teebi hypertelorism syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0007326 -Label(s): infectious mononucleosis -- 'infectious mononucleosis' SubClassOf 'Epstein-Barr virus infection' -+ 'infectious mononucleosis' SubClassOf 'Epstein-Barr virus infection' - -Class: http://www.ebi.ac.uk/efo/EFO_0007331 -Label(s): islet cell tumor -- 'islet cell tumor' SubClassOf 'digestive system neuroendocrine neoplasm' -+ 'islet cell tumor' SubClassOf 'digestive system neuroendocrine neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_0007339 -Label(s): late congenital syphilis -- 'late congenital syphilis' SubClassOf 'congenital syphilis' -+ 'late congenital syphilis' SubClassOf 'congenital syphilis' - -Class: http://purl.obolibrary.org/obo/MONDO_0016712 -Label(s): classic medulloblastoma -- 'classic medulloblastoma' SubClassOf 'medulloblastoma' -+ 'classic medulloblastoma' SubClassOf 'medulloblastoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0015705 -Label(s): autosomal recessive centronuclear myopathy -- 'autosomal recessive centronuclear myopathy' SubClassOf 'centronuclear myopathy' -+ 'autosomal recessive centronuclear myopathy' SubClassOf 'centronuclear myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0012912 -Label(s): pseudopseudohypoparathyroidism -- 'pseudopseudohypoparathyroidism' SubClassOf 'pseudohypoparathyroidism' -+ 'pseudopseudohypoparathyroidism' SubClassOf 'pseudohypoparathyroidism' - -Class: http://purl.obolibrary.org/obo/MONDO_0033566 -Label(s): combined oxidative phosphorylation deficiency 48 -- 'combined oxidative phosphorylation deficiency 48' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation deficiency 48' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0016785 -Label(s): complete hydatidiform mole -- 'complete hydatidiform mole' SubClassOf 'Hydatidiform Mole' -+ 'complete hydatidiform mole' SubClassOf 'Hydatidiform Mole' - -Class: http://purl.obolibrary.org/obo/MONDO_0044923 -Label(s): acute myeloid leukemia with mutated NPM1 -- 'acute myeloid leukemia with mutated NPM1' SubClassOf 'acute myeloid leukemia' -+ 'acute myeloid leukemia with mutated NPM1' SubClassOf 'acute myeloid leukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0020760 -Label(s): skin squamous cell carcinoma in situ -- 'skin squamous cell carcinoma in situ' SubClassOf 'squamous carcinoma in situ' -+ 'skin squamous cell carcinoma in situ' SubClassOf 'squamous carcinoma in situ' - -Class: http://purl.obolibrary.org/obo/MONDO_0010404 -Label(s): X-linked non progressive cerebellar ataxia -- 'X-linked non progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' -+ 'X-linked non progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0011141 -Label(s): megaloblastic anemia, folate-responsive -- 'megaloblastic anemia, folate-responsive' SubClassOf 'genetic disorder' -+ 'megaloblastic anemia, folate-responsive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0971066 - -Class: http://purl.obolibrary.org/obo/MONDO_0020757 -Label(s): sporadic hemiplegic migraine -- 'sporadic hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' -+ 'sporadic hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' - -Class: http://purl.obolibrary.org/obo/MONDO_0020756 -Label(s): migraine, familial hemiplegic, 1 -- 'migraine, familial hemiplegic, 1' SubClassOf 'familial hemiplegic migraine' -+ 'migraine, familial hemiplegic, 1' SubClassOf 'familial hemiplegic migraine' ++ 'hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Increased circulating prolactin concentration' Class: http://purl.obolibrary.org/obo/MONDO_0020752 Label(s): myoclonic epilepsy, juvenile, susceptibility to, 1 - 'myoclonic epilepsy, juvenile, susceptibility to, 1' SubClassOf 'predisposes towards' some 'juvenile myoclonic epilepsy' -+ 'myoclonic epilepsy, juvenile, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'juvenile myoclonic epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0020741 -Label(s): pyridoxine-dependent epilepsy caused by ALDH7A1 mutant -- 'pyridoxine-dependent epilepsy caused by ALDH7A1 mutant' SubClassOf 'pyridoxine-dependent epilepsy' -+ 'pyridoxine-dependent epilepsy caused by ALDH7A1 mutant' SubClassOf 'pyridoxine-dependent epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0020740 -Label(s): ectodermal dysplasia and immunodeficiency 1 -- 'ectodermal dysplasia and immunodeficiency 1' SubClassOf 'ectodermal dysplasia and immune deficiency' -+ 'ectodermal dysplasia and immunodeficiency 1' SubClassOf 'ectodermal dysplasia and immune deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0010089 -Label(s): isolated sulfite oxidase deficiency -- 'isolated sulfite oxidase deficiency' SubClassOf 'encephalopathy due to sulfite oxidase deficiency' -+ 'isolated sulfite oxidase deficiency' SubClassOf 'encephalopathy due to sulfite oxidase deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0010088 -Label(s): mucosulfatidosis -- 'mucosulfatidosis' SubClassOf 'sphingolipidosis' -- 'mucosulfatidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' -+ 'mucosulfatidosis' SubClassOf 'sphingolipidosis' -+ 'mucosulfatidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' - -Class: http://purl.obolibrary.org/obo/MONDO_0010080 -Label(s): familial infantile bilateral striatal necrosis -- 'familial infantile bilateral striatal necrosis' SubClassOf 'infantile bilateral striatal necrosis' -+ 'familial infantile bilateral striatal necrosis' SubClassOf 'infantile bilateral striatal necrosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0020738 -Label(s): multiple benign circumferential skin creases on limbs 1 -- 'multiple benign circumferential skin creases on limbs 1' SubClassOf 'multiple benign circumferential skin creases on limbs' -+ 'multiple benign circumferential skin creases on limbs 1' SubClassOf 'multiple benign circumferential skin creases on limbs' - -Class: http://purl.obolibrary.org/obo/MONDO_0020735 -Label(s): ACTH-independent macronodular adrenal hyperplasia 1 -- 'ACTH-independent macronodular adrenal hyperplasia 1' SubClassOf 'Cushing syndrome due to macronodular adrenal hyperplasia' -+ 'ACTH-independent macronodular adrenal hyperplasia 1' SubClassOf 'Cushing syndrome due to macronodular adrenal hyperplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0020733 -Label(s): proximal symphalangism 1A -- 'proximal symphalangism 1A' SubClassOf 'proximal symphalangism' -+ 'proximal symphalangism 1A' SubClassOf 'proximal symphalangism' - -Class: http://purl.obolibrary.org/obo/MONDO_0020730 -Label(s): carpal tunnel syndrome 1 -- 'carpal tunnel syndrome 1' SubClassOf 'carpal tunnel syndrome' -+ 'carpal tunnel syndrome 1' SubClassOf 'carpal tunnel syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0013969 -Label(s): combined oxidative phosphorylation defect type 11 -- 'combined oxidative phosphorylation defect type 11' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation defect type 11' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0010079 -Label(s): Canavan disease -- 'Canavan disease' SubClassOf 'leukodystrophy' -+ 'Canavan disease' SubClassOf 'leukodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0010077 -Label(s): spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome -- 'spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome' SubClassOf 'spondyloepimetaphyseal dysplasia' -+ 'spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome' SubClassOf 'spondyloepimetaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010075 -Label(s): spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures -- 'spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures' SubClassOf 'spondyloepimetaphyseal dysplasia with joint laxity' -+ 'spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures' SubClassOf 'spondyloepimetaphyseal dysplasia with joint laxity' - -Class: http://purl.obolibrary.org/obo/MONDO_0010073 -Label(s): spondyloepiphyseal dysplasia tarda, Kohn type -- 'spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'spondyloepiphyseal dysplasia tarda' -+ 'spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'spondyloepiphyseal dysplasia tarda' - -Class: http://purl.obolibrary.org/obo/MONDO_0020724 -Label(s): cerebral cavernous malformation 1 -- 'cerebral cavernous malformation 1' SubClassOf 'famililal cerebral cavernous malformations' -+ 'cerebral cavernous malformation 1' SubClassOf 'famililal cerebral cavernous malformations' - -Class: http://purl.obolibrary.org/obo/MONDO_0020721 -Label(s): X-linked sideroblastic anemia 1 -- 'X-linked sideroblastic anemia 1' SubClassOf 'inherited sideroblastic anemia' -+ 'X-linked sideroblastic anemia 1' SubClassOf 'inherited sideroblastic anemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0020717 -Label(s): autosomal dominant wooly hair -- 'autosomal dominant wooly hair' SubClassOf 'isolated familial wooly hair disorder' -+ 'autosomal dominant wooly hair' SubClassOf 'isolated familial wooly hair disorder' ++ 'myoclonic epilepsy, juvenile, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'juvenile myoclonic epilepsy' + +Class: http://purl.obolibrary.org/obo/MONDO_0020727 +Label(s): combined oxidative phosphorylation deficiency 22 +- 'combined oxidative phosphorylation deficiency 22' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' Class: http://purl.obolibrary.org/obo/MONDO_0020715 Label(s): multiple system atrophy 1, susceptibility to - 'multiple system atrophy 1, susceptibility to' SubClassOf 'predisposes towards' some 'multiple system atrophy' -+ 'multiple system atrophy 1, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'multiple system atrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0020713 -Label(s): pulmonary venoocclusive disease 1 -- 'pulmonary venoocclusive disease 1' SubClassOf 'pulmonary venoocclusive disease' -+ 'pulmonary venoocclusive disease 1' SubClassOf 'pulmonary venoocclusive disease' ++ 'multiple system atrophy 1, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'multiple system atrophy' Class: http://purl.obolibrary.org/obo/MONDO_0020705 Label(s): neural tube defects, susceptibility to - 'neural tube defects, susceptibility to' SubClassOf 'predisposes towards' some 'neural tube defect' - 'neural tube defects, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'neural tube defect') -+ 'neural tube defects, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neural tube defect') -+ 'neural tube defects, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neural tube defect' - -Class: http://purl.obolibrary.org/obo/MONDO_0011198 -Label(s): spondyloepimetaphyseal dysplasia, Missouri type -- 'spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'spondyloepimetaphyseal dysplasia' -+ 'spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'spondyloepimetaphyseal dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0015101 -Label(s): Marin-Amat syndrome -- 'Marin-Amat syndrome' SubClassOf 'jaw-winking syndrome' -+ 'Marin-Amat syndrome' SubClassOf 'jaw-winking syndrome' ++ 'neural tube defects, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neural tube defect') ++ 'neural tube defects, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neural tube defect' Class: http://purl.obolibrary.org/obo/MONDO_0007845 Label(s): Kaposi sarcoma, susceptibility to - 'Kaposi sarcoma, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Kaposi's sarcoma') - 'Kaposi sarcoma, susceptibility to' SubClassOf 'predisposes towards' some 'Kaposi's sarcoma' -+ 'Kaposi sarcoma, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Kaposi's sarcoma') -+ 'Kaposi sarcoma, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Kaposi's sarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0010028 -Label(s): sialuria -- 'sialuria' SubClassOf 'disorder of sialic acid metabolism' -+ 'sialuria' SubClassOf 'disorder of sialic acid metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0010027 -Label(s): free sialic acid storage disease, infantile form -- 'free sialic acid storage disease, infantile form' SubClassOf 'lysosomal storage disease with skeletal involvement' -+ 'free sialic acid storage disease, infantile form' SubClassOf 'lysosomal storage disease with skeletal involvement' - -Class: http://purl.obolibrary.org/obo/MONDO_0010447 -Label(s): intellectual disability, X-linked 19 -- 'intellectual disability, X-linked 19' SubClassOf 'non-syndromic X-linked intellectual disability' -+ 'intellectual disability, X-linked 19' SubClassOf 'non-syndromic X-linked intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0010023 -Label(s): combined immunodeficiency due to ZAP70 deficiency -- 'combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'combined immunodeficiency' -+ 'combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'combined immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0013987 -Label(s): combined oxidative phosphorylation defect type 15 -- 'combined oxidative phosphorylation defect type 15' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation defect type 15' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0010017 -Label(s): sea-blue histiocyte syndrome -- 'sea-blue histiocyte syndrome' SubClassOf 'non-Langerhans cell histiocytosis' -+ 'sea-blue histiocyte syndrome' SubClassOf 'non-Langerhans cell histiocytosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0010015 -Label(s): anterior segment dysgenesis 7 -- 'anterior segment dysgenesis 7' SubClassOf 'anterior segment dysgenesis' -+ 'anterior segment dysgenesis 7' SubClassOf 'anterior segment dysgenesis' - -Class: http://purl.obolibrary.org/obo/MONDO_0010011 -Label(s): schizencephaly -- 'schizencephaly' SubClassOf 'encephaloclastic disorder' -+ 'schizencephaly' SubClassOf 'encephaloclastic disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0010010 -Label(s): Schinzel-Giedion syndrome -- 'Schinzel-Giedion syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'Schinzel-Giedion syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0010455 -Label(s): X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia -- 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'combined immunodeficiency' -+ 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'combined immunodeficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0010006 -Label(s): Sandhoff disease -- 'Sandhoff disease' SubClassOf 'GM2 gangliosidosis' -+ 'Sandhoff disease' SubClassOf 'GM2 gangliosidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0007856 -Label(s): palmoplantar keratoderma-esophageal carcinoma syndrome -- 'palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'syndromic disease' -+ 'palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0015695 -Label(s): combined immunodeficiency due to CRAC channel dysfunction -- 'combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'combined immunodeficiency' -+ 'combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'combined immunodeficiency' ++ 'Kaposi sarcoma, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Kaposi's sarcoma' ++ 'Kaposi sarcoma, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Kaposi's sarcoma') Class: http://purl.obolibrary.org/obo/MONDO_0015688 Label(s): myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 - 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf 'disease has major feature' some 'Eosinophilia' -+ 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Eosinophilia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010466 -Label(s): multiple congenital anomalies-hypotonia-seizures syndrome 2 -- 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' -+ 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011837 -Label(s): vitamin K-dependent clotting factors, combined deficiency of, type 2 -- 'vitamin K-dependent clotting factors, combined deficiency of, type 2' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' -+ 'vitamin K-dependent clotting factors, combined deficiency of, type 2' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0010472 -Label(s): developmental and epileptic encephalopathy, 36 -- 'developmental and epileptic encephalopathy, 36' SubClassOf 'developmental and epileptic encephalopathy' -- 'developmental and epileptic encephalopathy, 36' SubClassOf 'congenital disorder of glycosylation type I' -+ 'developmental and epileptic encephalopathy, 36' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 36' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0016801 -Label(s): mitochondrial substrate carrier disorder -- 'mitochondrial substrate carrier disorder' SubClassOf 'mitochondrial membrane transport disorder' -+ 'mitochondrial substrate carrier disorder' SubClassOf 'mitochondrial membrane transport disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0015601 -Label(s): X-linked intellectual disability, van Esch type -- 'X-linked intellectual disability, van Esch type' SubClassOf 'X-linked syndromic intellectual disability' -+ 'X-linked intellectual disability, van Esch type' SubClassOf 'X-linked syndromic intellectual disability' - -Class: http://www.ebi.ac.uk/efo/EFO_1000946 -Label(s): gastric mucosal hypertrophy -- 'gastric mucosal hypertrophy' SubClassOf 'gastritis' -+ 'gastric mucosal hypertrophy' SubClassOf 'gastritis' - -Class: http://www.ebi.ac.uk/efo/EFO_1000942 -Label(s): fungal meningitis -- 'fungal meningitis' SubClassOf 'fungal infectious disease' -+ 'fungal meningitis' SubClassOf 'fungal infectious disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0007466 -Label(s): retroperitoneal cancer -- 'retroperitoneal cancer' SubClassOf 'retroperitoneal neoplasm' -+ 'retroperitoneal cancer' SubClassOf 'retroperitoneal neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_1000934 -Label(s): eyelid neoplasm -- 'eyelid neoplasm' SubClassOf 'eyelid disease' -+ 'eyelid neoplasm' SubClassOf 'eyelid disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0024545 -Label(s): Miyoshi muscular dystrophy 1 -- 'Miyoshi muscular dystrophy 1' SubClassOf 'Miyoshi myopathy' -+ 'Miyoshi muscular dystrophy 1' SubClassOf 'Miyoshi myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0002204 -Label(s): transient arthritis -- 'transient arthritis' SubClassOf 'transient arthropathy' -+ 'transient arthritis' SubClassOf 'transient arthropathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0020667 -Label(s): Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis -- 'Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis' SubClassOf 'Antley-Bixler syndrome' -+ 'Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis' SubClassOf 'Antley-Bixler syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0020655 -Label(s): juvenile ankylosing spondylitis -- 'juvenile ankylosing spondylitis' SubClassOf 'ankylosing spondylitis' -+ 'juvenile ankylosing spondylitis' SubClassOf 'ankylosing spondylitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0020640 -Label(s): autoimmune encephalitis -- 'autoimmune encephalitis' SubClassOf 'encephalitis' -+ 'autoimmune encephalitis' SubClassOf 'encephalitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0011264 -Label(s): torsion dystonia 6 -- 'torsion dystonia 6' SubClassOf 'generalized dystonia' -+ 'torsion dystonia 6' SubClassOf 'generalized dystonia' - -Class: http://purl.obolibrary.org/obo/MONDO_0011275 -Label(s): acromesomelic dysplasia 1, Maroteaux type -- 'acromesomelic dysplasia 1, Maroteaux type' SubClassOf 'acromesomelic dysplasia' -+ 'acromesomelic dysplasia 1, Maroteaux type' SubClassOf 'acromesomelic dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0011292 -Label(s): dermatitis, atopic -- 'dermatitis, atopic' SubClassOf 'atopic eczema' ++ 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Eosinophilia' + +Class: http://purl.obolibrary.org/obo/MONDO_0020630 +Label(s): epileptic encephalopathy, infantile or early childhood, 1 +- 'epileptic encephalopathy, infantile or early childhood, 1' SubClassOf 'epileptic encephalopathy, infantile or early childhood' ++ 'epileptic encephalopathy, infantile or early childhood, 1' SubClassOf 'developmental and epileptic encephalopathy' + +Class: http://purl.obolibrary.org/obo/MONDO_0020627 +Label(s): epileptic encephalopathy, infantile or early childhood +- 'epileptic encephalopathy, infantile or early childhood' SubClassOf 'hereditary neurological disease' +- 'epileptic encephalopathy, infantile or early childhood' SubClassOf 'epilepsy syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0100216 Label(s): DICER1-related tumor predisposition -- 'DICER1-related tumor predisposition' SubClassOf 'syndromic disease' - 'DICER1-related tumor predisposition' SubClassOf 'predisposes towards' some 'cancer' -+ 'DICER1-related tumor predisposition' SubClassOf 'syndromic disease' -+ 'DICER1-related tumor predisposition' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0009133 -Label(s): cerebellar ataxia, intellectual disability, and dysequilibrium -- 'cerebellar ataxia, intellectual disability, and dysequilibrium' SubClassOf 'syndromic disease' -+ 'cerebellar ataxia, intellectual disability, and dysequilibrium' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0015574 -Label(s): chronic cutaneous lupus erythematosus -- 'chronic cutaneous lupus erythematosus' SubClassOf 'cutaneous lupus erythematosus' -+ 'chronic cutaneous lupus erythematosus' SubClassOf 'cutaneous lupus erythematosus' - -Class: http://www.ebi.ac.uk/efo/EFO_0001416 -Label(s): cervical adenocarcinoma -- 'cervical adenocarcinoma' SubClassOf 'adenocarcinoma' -+ 'cervical adenocarcinoma' SubClassOf 'adenocarcinoma' ++ 'DICER1-related tumor predisposition' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'cancer' Class: http://purl.obolibrary.org/obo/MONDO_0015566 Label(s): 2q24 microdeletion syndrome - '2q24 microdeletion syndrome' SubClassOf 'disease has major feature' some 'cataract' -+ '2q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'cataract' - -Class: http://purl.obolibrary.org/obo/MONDO_0015550 -Label(s): suprabasal epidermolysis bullosa simplex -- 'suprabasal epidermolysis bullosa simplex' SubClassOf 'epidermolysis bullosa simplex' -+ 'suprabasal epidermolysis bullosa simplex' SubClassOf 'epidermolysis bullosa simplex' - -Class: http://purl.obolibrary.org/obo/MONDO_0033614 -Label(s): spastic paraplegia 83, autosomal recessive -- 'spastic paraplegia 83, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' -+ 'spastic paraplegia 83, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' - -Class: http://www.ebi.ac.uk/efo/EFO_1000895 -Label(s): desmoplastic small round cell tumor -- 'desmoplastic small round cell tumor' SubClassOf 'small cell sarcoma' -+ 'desmoplastic small round cell tumor' SubClassOf 'small cell sarcoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000888 -Label(s): cystic lymphangioma -- 'cystic lymphangioma' SubClassOf 'lymphangioma' -+ 'cystic lymphangioma' SubClassOf 'epithelial neoplasm' -+ 'cystic lymphangioma' SubClassOf 'lymphangioma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000886 -Label(s): cutaneous mastocytosis -- 'cutaneous mastocytosis' SubClassOf 'Mastocytosis' -+ 'cutaneous mastocytosis' SubClassOf 'Mastocytosis' - -Class: http://www.ebi.ac.uk/efo/EFO_1000885 -Label(s): cutaneous fibrous histiocytoma -- 'cutaneous fibrous histiocytoma' SubClassOf 'benign fibrous histiocytoma' -+ 'cutaneous fibrous histiocytoma' SubClassOf 'benign fibrous histiocytoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0033622 -Label(s): spermatogenic failure 44 -- 'spermatogenic failure 44' SubClassOf 'azoospermia' -+ 'spermatogenic failure 44' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0015523 -Label(s): epithelioid hemangioendothelioma -- 'epithelioid hemangioendothelioma' SubClassOf 'vascular cancer' -+ 'epithelioid hemangioendothelioma' SubClassOf 'vascular cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_8000011 -Label(s): visceral neuropathy, familial, 1, autosomal recessive -- 'visceral neuropathy, familial, 1, autosomal recessive' SubClassOf 'neuronal intestinal dysplasia' -+ 'visceral neuropathy, familial, 1, autosomal recessive' SubClassOf 'neuronal intestinal dysplasia' - -Class: http://www.ebi.ac.uk/efo/EFO_0007544 -Label(s): Waterhouse-Friderichsen syndrome -- 'Waterhouse-Friderichsen syndrome' SubClassOf 'acute adrenal insufficiency' -+ 'Waterhouse-Friderichsen syndrome' SubClassOf 'acute adrenal insufficiency' - -Class: http://www.ebi.ac.uk/efo/EFO_1000839 -Label(s): bladder calculus -- 'bladder calculus' SubClassOf 'bladder disease' -+ 'bladder calculus' SubClassOf 'bladder disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1000831 -Label(s): bacterial meningitis -- 'bacterial meningitis' SubClassOf 'bacterial disease' -+ 'bacterial meningitis' SubClassOf 'bacterial disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1000830 -Label(s): bacterial endocarditis -- 'bacterial endocarditis' SubClassOf 'infective endocarditis' -+ 'bacterial endocarditis' SubClassOf 'infective endocarditis' - -Class: http://www.ebi.ac.uk/efo/EFO_1000818 -Label(s): arcus senilis -- 'arcus senilis' SubClassOf 'corneal degeneration' -+ 'arcus senilis' SubClassOf 'corneal degeneration' - -Class: http://www.ebi.ac.uk/efo/EFO_1000810 -Label(s): anterior spinal artery syndrome -- 'anterior spinal artery syndrome' SubClassOf 'arterial disorder' -- 'anterior spinal artery syndrome' SubClassOf 'syndromic disease' -+ 'anterior spinal artery syndrome' SubClassOf 'arterial disorder' -+ 'anterior spinal artery syndrome' SubClassOf 'syndromic disease' ++ '2q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'cataract' Class: http://purl.obolibrary.org/obo/MONDO_0013032 Label(s): epilepsy, idiopathic generalized, susceptibility to, 8 - 'epilepsy, idiopathic generalized, susceptibility to, 8' SubClassOf 'predisposes towards' some 'generalised epilepsy' -+ 'epilepsy, idiopathic generalized, susceptibility to, 8' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'generalised epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0012929 -Label(s): Compton-North congenital myopathy -- 'Compton-North congenital myopathy' SubClassOf 'congenital myopathy' -+ 'Compton-North congenital myopathy' SubClassOf 'congenital myopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0020575 -Label(s): polymorphic ventricular tachycardia -- 'polymorphic ventricular tachycardia' SubClassOf 'ventricular tachycardia' -+ 'polymorphic ventricular tachycardia' SubClassOf 'ventricular tachycardia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010502 -Label(s): intellectual disability, X-linked 99, syndromic, female-restricted -- 'intellectual disability, X-linked 99, syndromic, female-restricted' SubClassOf 'X-linked syndromic intellectual disability' -+ 'intellectual disability, X-linked 99, syndromic, female-restricted' SubClassOf 'X-linked syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0010504 -Label(s): immunodeficiency 47 -- 'immunodeficiency 47' SubClassOf 'inborn error of immunity' -+ 'immunodeficiency 47' SubClassOf 'inborn error of immunity' - -Class: http://purl.obolibrary.org/obo/MONDO_0027069 -Label(s): mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 -- 'mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' -+ 'mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0020550 -Label(s): gestational choriocarcinoma -- 'gestational choriocarcinoma' SubClassOf 'gestational trophoblastic neoplasm' -+ 'gestational choriocarcinoma' SubClassOf 'gestational trophoblastic neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0020547 -Label(s): chronic graft versus host disease -- 'chronic graft versus host disease' SubClassOf 'graft versus host disease' -+ 'chronic graft versus host disease' SubClassOf 'graft versus host disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0020546 -Label(s): acute graft versus host disease -- 'acute graft versus host disease' SubClassOf 'graft versus host disease' -+ 'acute graft versus host disease' SubClassOf 'graft versus host disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010514 -Label(s): combined immunodeficiency due to moesin deficiency -- 'combined immunodeficiency due to moesin deficiency' SubClassOf 'combined immunodeficiency' -+ 'combined immunodeficiency due to moesin deficiency' SubClassOf 'combined immunodeficiency' - -Class: http://purl.obolibrary.org/obo/GO_0006778 -Label(s): porphyrin-containing compound metabolic process -- 'porphyrin-containing compound metabolic process' SubClassOf 'organonitrogen compound metabolic process' -+ 'porphyrin-containing compound metabolic process' SubClassOf 'metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0020529 -Label(s): ACTH-independent Cushing syndrome -- 'ACTH-independent Cushing syndrome' SubClassOf 'Cushing syndrome' -+ 'ACTH-independent Cushing syndrome' SubClassOf 'Cushing syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0020525 -Label(s): transient neonatal diabetes mellitus -- 'transient neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' -+ 'transient neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' - -Class: http://purl.obolibrary.org/obo/MONDO_0010526 -Label(s): Fabry disease -- 'Fabry disease' SubClassOf 'sphingolipidosis' -+ 'Fabry disease' SubClassOf 'sphingolipidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0020516 -Label(s): thymic neuroendocrine carcinoma -- 'thymic neuroendocrine carcinoma' SubClassOf 'Thymic Carcinoma' -+ 'thymic neuroendocrine carcinoma' SubClassOf 'Thymic Carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0020511 -Label(s): precursor B-cell acute lymphoblastic leukemia -- 'precursor B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' -+ 'precursor B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010534 -Label(s): X-linked spinocerebellar ataxia type 4 -- 'X-linked spinocerebellar ataxia type 4' SubClassOf 'X-linked cerebellar ataxia' -+ 'X-linked spinocerebellar ataxia type 4' SubClassOf 'X-linked cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0002772 -Label(s): intraventricular meningioma -- 'intraventricular meningioma' SubClassOf 'meningioma' -+ 'intraventricular meningioma' SubClassOf 'meningioma' - -Class: http://purl.obolibrary.org/obo/MONDO_0010560 -Label(s): cleft palate with or without ankyloglossia, X-linked -- 'cleft palate with or without ankyloglossia, X-linked' SubClassOf 'cleft palate' -+ 'cleft palate with or without ankyloglossia, X-linked' SubClassOf 'cleft palate' - -Class: http://purl.obolibrary.org/obo/MONDO_0015455 -Label(s): gonococcal conjunctivitis -- 'gonococcal conjunctivitis' SubClassOf 'bacterial conjunctivitis' -+ 'gonococcal conjunctivitis' SubClassOf 'bacterial conjunctivitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0015454 -Label(s): multiple carboxylase deficiency -- 'multiple carboxylase deficiency' SubClassOf 'classic organic aciduria' -+ 'multiple carboxylase deficiency' SubClassOf 'classic organic aciduria' - -Class: http://purl.obolibrary.org/obo/MONDO_0010588 -Label(s): exudative vitreoretinopathy 2, X-linked -- 'exudative vitreoretinopathy 2, X-linked' SubClassOf 'X-linked disease' -- 'exudative vitreoretinopathy 2, X-linked' SubClassOf 'exudative vitreoretinopathy' -+ 'exudative vitreoretinopathy 2, X-linked' SubClassOf 'X-linked disease' -+ 'exudative vitreoretinopathy 2, X-linked' SubClassOf 'exudative vitreoretinopathy' - -Class: http://www.ebi.ac.uk/efo/EFO_1000784 -Label(s): microscopic polyangiitis -- 'microscopic polyangiitis' SubClassOf 'anti-neutrophil cytoplasmic antibody-associated vasculitis' -+ 'microscopic polyangiitis' SubClassOf 'anti-neutrophil cytoplasmic antibody-associated vasculitis' - -Class: http://www.ebi.ac.uk/efo/EFO_1000781 -Label(s): overactive bladder -- 'overactive bladder' SubClassOf 'bladder disease' -+ 'overactive bladder' SubClassOf 'bladder disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1000767 -Label(s): skin sarcoidosis -- 'skin sarcoidosis' SubClassOf 'skin disease' -+ 'skin sarcoidosis' SubClassOf 'skin disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1000756 -Label(s): pityriasis rosea -- 'pityriasis rosea' SubClassOf 'dermatitis' -+ 'pityriasis rosea' SubClassOf 'dermatitis' - -Class: http://www.ebi.ac.uk/efo/EFO_0700095 -Label(s): type 1 interferonopathy -- 'type 1 interferonopathy' SubClassOf 'autoinflammatory syndrome' -+ 'type 1 interferonopathy' SubClassOf 'autoinflammatory syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_1000746 -Label(s): panniculitis -- 'panniculitis' SubClassOf 'connective tissue disease' -+ 'panniculitis' SubClassOf 'connective tissue disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1000735 -Label(s): miliaria rubra -- 'miliaria rubra' SubClassOf 'miliaria' -+ 'miliaria rubra' SubClassOf 'miliaria' ++ 'epilepsy, idiopathic generalized, susceptibility to, 8' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy' + +Class: http://purl.obolibrary.org/obo/MONDO_0015448 +Label(s): mitochondrial complex III deficiency +- 'mitochondrial complex III deficiency' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some 'obsolete mitochondrial respiratory chain complex III') +- 'mitochondrial complex III deficiency' SubClassOf 'disease has basis in dysfunction of' some 'obsolete mitochondrial respiratory chain complex III' + +Class: http://www.ebi.ac.uk/efo/EFO_1000737 +Label(s): multiple symmetric lipomatosis ++ 'multiple symmetric lipomatosis' SubClassOf 'hereditary disorder of connective tissue' Class: http://www.ebi.ac.uk/efo/EFO_1000727 Label(s): lipodystrophy - 'lipodystrophy' SubClassOf 'disease has major feature' some 'Lipodystrophy' - 'lipodystrophy' EquivalentTo 'disease' and ('disease has major feature' some 'Lipodystrophy') -+ 'lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Lipodystrophy' -+ 'lipodystrophy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Lipodystrophy') - -Class: http://www.ebi.ac.uk/efo/EFO_1000713 -Label(s): hypopigmentation of eyelid -- 'hypopigmentation of eyelid' SubClassOf 'eyelid disease' -+ 'hypopigmentation of eyelid' SubClassOf 'eyelid disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1000709 -Label(s): pemphigoid gestationis -- 'pemphigoid gestationis' SubClassOf 'pemphigus' -+ 'pemphigoid gestationis' SubClassOf 'pemphigus' - -Class: http://www.ebi.ac.uk/efo/EFO_1000702 -Label(s): folliculitis -- 'folliculitis' SubClassOf 'dermatitis' -+ 'folliculitis' SubClassOf 'dermatitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0056806 -Label(s): non-small cell squamous lung carcinoma -- 'non-small cell squamous lung carcinoma' SubClassOf 'non-small cell lung carcinoma' -+ 'non-small cell squamous lung carcinoma' SubClassOf 'non-small cell lung carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0002977 -Label(s): autoimmune disorder of the nervous system -- 'autoimmune disorder of the nervous system' SubClassOf 'nervous system disease' -+ 'autoimmune disorder of the nervous system' SubClassOf 'nervous system disease' ++ 'lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Lipodystrophy' ++ 'lipodystrophy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Lipodystrophy') Class: http://purl.obolibrary.org/obo/MONDO_0020485 Label(s): King-Denborough syndrome - 'King-Denborough syndrome' SubClassOf 'disease shares features of' some 'Noonan syndrome' -+ 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Noonan syndrome' ++ 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Noonan syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0020483 Label(s): acetazolamide-responsive myotonia - 'acetazolamide-responsive myotonia' EquivalentTo 'potassium-aggravated myotonia' and ('disease responds to' some 'acetazolamide') - 'acetazolamide-responsive myotonia' SubClassOf 'disease responds to' some 'acetazolamide' -- 'acetazolamide-responsive myotonia' SubClassOf 'potassium-aggravated myotonia' -+ 'acetazolamide-responsive myotonia' EquivalentTo 'potassium-aggravated myotonia' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'acetazolamide') -+ 'acetazolamide-responsive myotonia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'acetazolamide' -+ 'acetazolamide-responsive myotonia' SubClassOf 'potassium-aggravated myotonia' - -Class: http://purl.obolibrary.org/obo/MONDO_0011421 -Label(s): mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 -- 'mitochondrial complex V (ATP synthase) deficiency, nuclear type 1' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' -+ 'mitochondrial complex V (ATP synthase) deficiency, nuclear type 1' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0020473 -Label(s): dappled diaphyseal dysplasia -- 'dappled diaphyseal dysplasia' SubClassOf 'chondrodysplasia punctata' -+ 'dappled diaphyseal dysplasia' SubClassOf 'chondrodysplasia punctata' - -Class: http://purl.obolibrary.org/obo/MONDO_0011430 -Label(s): pulverulent cataract -- 'pulverulent cataract' SubClassOf 'early-onset non-syndromic cataract' -+ 'pulverulent cataract' SubClassOf 'early-onset non-syndromic cataract' - -Class: http://purl.obolibrary.org/obo/MONDO_0020466 -Label(s): monosomy X -- 'monosomy X' SubClassOf 'Turner syndrome' -+ 'monosomy X' SubClassOf 'Turner syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011436 -Label(s): autosomal recessive distal spinal muscular atrophy 1 -- 'autosomal recessive distal spinal muscular atrophy 1' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' -+ 'autosomal recessive distal spinal muscular atrophy 1' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' - -Class: http://purl.obolibrary.org/obo/MONDO_0002943 -Label(s): external ear basal cell carcinoma -- 'external ear basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' -+ 'external ear basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0020458 -Label(s): hemolytic anemia due to erythrocyte adenosine deaminase overproduction -- 'hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'inborn disorder of purine metabolism' -+ 'hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'inborn disorder of purine metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0002936 -Label(s): scrotum basal cell carcinoma -- 'scrotum basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' -+ 'scrotum basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0002915 -Label(s): childhood infratentorial neoplasm -- 'childhood infratentorial neoplasm' SubClassOf 'infratentorial neoplasm' -+ 'childhood infratentorial neoplasm' SubClassOf 'infratentorial neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0002913 -Label(s): cerebellar neoplasm -- 'cerebellar neoplasm' SubClassOf 'cerebellar disorder' -+ 'cerebellar neoplasm' SubClassOf 'cerebellar disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0007817 -Label(s): IgE responsiveness, atopic -- 'IgE responsiveness, atopic' SubClassOf 'atopic eczema' -+ 'IgE responsiveness, atopic' SubClassOf 'genetic disorder' -+ 'IgE responsiveness, atopic' SubClassOf 'hypersensitivity reaction disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0015399 -Label(s): glossopalatine ankylosis -- 'glossopalatine ankylosis' SubClassOf 'oromandibular-limb hypogenesis syndrome' -+ 'glossopalatine ankylosis' SubClassOf 'oromandibular-limb hypogenesis syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0015375 -Label(s): orofaciodigital syndrome -- 'orofaciodigital syndrome' SubClassOf 'oromandibular-limb anomalies syndrome' -+ 'orofaciodigital syndrome' SubClassOf 'oromandibular-limb anomalies syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0015367 -Label(s): Charlie M syndrome -- 'Charlie M syndrome' SubClassOf 'oromandibular-limb hypogenesis syndrome' -+ 'Charlie M syndrome' SubClassOf 'oromandibular-limb hypogenesis syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0015363 -Label(s): neuronopathy, distal hereditary motor, autosomal recessive -- 'neuronopathy, distal hereditary motor, autosomal recessive' SubClassOf 'autosomal recessive disease' -+ 'neuronopathy, distal hereditary motor, autosomal recessive' SubClassOf 'autosomal recessive disease' ++ 'acetazolamide-responsive myotonia' EquivalentTo 'potassium-aggravated myotonia' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide') ++ 'acetazolamide-responsive myotonia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide' Class: http://purl.obolibrary.org/obo/MONDO_0015356 Label(s): hereditary neoplastic syndrome - 'hereditary neoplastic syndrome' SubClassOf 'predisposes towards' some 'neoplasm' - 'hereditary neoplastic syndrome' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'neoplasm') -+ 'hereditary neoplastic syndrome' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neoplasm') -+ 'hereditary neoplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0015355 -Label(s): distal hereditary motor neuropathy type 7 -- 'distal hereditary motor neuropathy type 7' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' -+ 'distal hereditary motor neuropathy type 7' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' - -Class: http://www.ebi.ac.uk/efo/EFO_1000681 -Label(s): congenital generalized lipodystrophy -- 'congenital generalized lipodystrophy' SubClassOf 'generalized lipodystrophy' -+ 'congenital generalized lipodystrophy' SubClassOf 'generalized lipodystrophy' - -Class: http://www.ebi.ac.uk/efo/EFO_1000678 -Label(s): cholesteatoma of middle ear -- 'cholesteatoma of middle ear' SubClassOf 'middle ear disorder' -+ 'cholesteatoma of middle ear' SubClassOf 'middle ear disorder' ++ 'hereditary neoplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neoplasm' ++ 'hereditary neoplastic syndrome' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neoplasm') Class: http://www.ebi.ac.uk/efo/EFO_1000670 Label(s): anhidrosis - 'anhidrosis' SubClassOf 'disease has major feature' some 'Anhidrosis' -+ 'anhidrosis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Anhidrosis' - -Class: http://www.ebi.ac.uk/efo/EFO_0006859 -Label(s): head and neck malignant neoplasia -- 'head and neck malignant neoplasia' SubClassOf 'cancer' -+ 'head and neck malignant neoplasia' SubClassOf 'cancer' ++ 'anhidrosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Anhidrosis' Class: http://www.ebi.ac.uk/efo/EFO_1000648 Label(s): developmental dysplasia of the hip - 'developmental dysplasia of the hip' SubClassOf 'disease has major feature' some 'Abnormal hip joint morphology' -- 'developmental dysplasia of the hip' SubClassOf 'bone development disease' -+ 'developmental dysplasia of the hip' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal hip joint morphology' -+ 'developmental dysplasia of the hip' SubClassOf 'bone development disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1000641 -Label(s): congenital nonspherocytic hemolytic anemia -- 'congenital nonspherocytic hemolytic anemia' SubClassOf 'familial hemolytic anemia' -+ 'congenital nonspherocytic hemolytic anemia' SubClassOf 'familial hemolytic anemia' - -Class: http://www.ebi.ac.uk/efo/EFO_1000635 -Label(s): hemangioma -- 'hemangioma' SubClassOf 'benign epithelial neoplasm' -+ 'hemangioma' SubClassOf 'epithelial neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_1000632 -Label(s): cerebral palsy -- 'cerebral palsy' SubClassOf 'palsy' -+ 'cerebral palsy' SubClassOf 'palsy' - -Class: http://www.ebi.ac.uk/efo/EFO_1000620 -Label(s): Vaginal Squamous Cell Carcinoma -- 'Vaginal Squamous Cell Carcinoma' SubClassOf 'vaginal carcinoma' -- 'Vaginal Squamous Cell Carcinoma' SubClassOf 'vaginal squamous tumor' -- 'Vaginal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' -+ 'Vaginal Squamous Cell Carcinoma' SubClassOf 'vaginal carcinoma' -+ 'Vaginal Squamous Cell Carcinoma' SubClassOf 'vaginal squamous tumor' -+ 'Vaginal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0007837 -Label(s): Johnson neuroectodermal syndrome -- 'Johnson neuroectodermal syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'Johnson neuroectodermal syndrome' SubClassOf 'ectodermal dysplasia syndrome' ++ 'developmental dysplasia of the hip' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal hip joint morphology' + +Class: http://purl.obolibrary.org/obo/MONDO_0011506 +Label(s): familial infantile myoclonic epilepsy ++ 'familial infantile myoclonic epilepsy' SubClassOf 'hereditary neurological disease' Class: http://purl.obolibrary.org/obo/MONDO_0020380 Label(s): autosomal dominant cerebellar ataxia - 'autosomal dominant cerebellar ataxia' SubClassOf 'disease has major feature' some 'dementia' -- 'autosomal dominant cerebellar ataxia' SubClassOf 'autosomal dominant disease' -+ 'autosomal dominant cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' -+ 'autosomal dominant cerebellar ataxia' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0020370 -Label(s): Cogan-Reese syndrome -- 'Cogan-Reese syndrome' SubClassOf 'iridocorneal endothelial syndrome' -+ 'Cogan-Reese syndrome' SubClassOf 'iridocorneal endothelial syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0002852 -Label(s): mediastinum sarcoma -- 'mediastinum sarcoma' SubClassOf 'mediastinal soft tissue cancer' -+ 'mediastinum sarcoma' SubClassOf 'mediastinal soft tissue cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0020369 -Label(s): Chandler syndrome -- 'Chandler syndrome' SubClassOf 'iridocorneal endothelial syndrome' -+ 'Chandler syndrome' SubClassOf 'iridocorneal endothelial syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0020364 -Label(s): posterior polymorphous corneal dystrophy -- 'posterior polymorphous corneal dystrophy' SubClassOf 'posterior corneal dystrophy' -+ 'posterior polymorphous corneal dystrophy' SubClassOf 'posterior corneal dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0020362 -Label(s): inverse Marcus-Gunn phenomenon -- 'inverse Marcus-Gunn phenomenon' SubClassOf 'jaw-winking syndrome' -+ 'inverse Marcus-Gunn phenomenon' SubClassOf 'jaw-winking syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0020360 -Label(s): complete cryptophthalmia -- 'complete cryptophthalmia' SubClassOf 'isolated cryptophthalmia' -+ 'complete cryptophthalmia' SubClassOf 'isolated cryptophthalmia' - -Class: http://purl.obolibrary.org/obo/MONDO_0002843 -Label(s): fungal gastritis -- 'fungal gastritis' SubClassOf 'fungal infectious disease' -+ 'fungal gastritis' SubClassOf 'fungal infectious disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0002842 -Label(s): bacterial gastritis -- 'bacterial gastritis' SubClassOf 'bacterial disease' -+ 'bacterial gastritis' SubClassOf 'bacterial disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0020359 -Label(s): congenital symblepharon -- 'congenital symblepharon' SubClassOf 'isolated cryptophthalmia' -+ 'congenital symblepharon' SubClassOf 'isolated cryptophthalmia' - -Class: http://purl.obolibrary.org/obo/GO_0006591 -Label(s): ornithine metabolic process -- 'ornithine metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0020341 -Label(s): periventricular nodular heterotopia -- 'periventricular nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' -+ 'periventricular nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' - -Class: http://purl.obolibrary.org/obo/MONDO_0020340 -Label(s): bilateral perisylvian polymicrogyria -- 'bilateral perisylvian polymicrogyria' SubClassOf 'bilateral polymicrogyria' -+ 'bilateral perisylvian polymicrogyria' SubClassOf 'bilateral polymicrogyria' - -Class: http://purl.obolibrary.org/obo/MONDO_0010615 -Label(s): isolated growth hormone deficiency type III -- 'isolated growth hormone deficiency type III' SubClassOf 'isolated congenital growth hormone deficiency' -+ 'isolated growth hormone deficiency type III' SubClassOf 'isolated congenital growth hormone deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0020337 -Label(s): congenital dyserythropoietic anemia type 1 -- 'congenital dyserythropoietic anemia type 1' SubClassOf 'congenital dyserythropoietic anemia' -+ 'congenital dyserythropoietic anemia type 1' SubClassOf 'congenital dyserythropoietic anemia' - -Class: http://purl.obolibrary.org/obo/GO_0006570 -Label(s): tyrosine metabolic process -- 'tyrosine metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/GO_0006564 -Label(s): L-serine biosynthetic process -- 'L-serine biosynthetic process' SubClassOf 'organonitrogen compound biosynthetic process' - -Class: http://purl.obolibrary.org/obo/GO_0006560 -Label(s): proline metabolic process -- 'proline metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0010435 -Label(s): nystagmus 6, congenital, X-linked -- 'nystagmus 6, congenital, X-linked' SubClassOf 'congenital nystagmus' -+ 'nystagmus 6, congenital, X-linked' SubClassOf 'congenital nystagmus' - -Class: http://purl.obolibrary.org/obo/GO_0006541 -Label(s): glutamine metabolic process -- 'glutamine metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0010647 -Label(s): spermatogenic failure, X-linked, 2 -- 'spermatogenic failure, X-linked, 2' SubClassOf 'azoospermia' -+ 'spermatogenic failure, X-linked, 2' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/GO_0006506 -Label(s): GPI anchor biosynthetic process -- 'GPI anchor biosynthetic process' SubClassOf 'protein modification process' - -Class: http://purl.obolibrary.org/obo/MONDO_0010654 -Label(s): Partington syndrome -- 'Partington syndrome' SubClassOf 'X-linked syndromic intellectual disability' -+ 'Partington syndrome' SubClassOf 'X-linked syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0010657 -Label(s): methylmalonic acidemia with homocystinuria, type cblX -- 'methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'methylmalonic aciduria and homocystinuria' -+ 'methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'methylmalonic aciduria and homocystinuria' ++ 'autosomal dominant cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' + +Class: http://purl.obolibrary.org/obo/MONDO_0010425 +Label(s): Lisch epithelial corneal dystrophy ++ 'Lisch epithelial corneal dystrophy' SubClassOf 'genetic disorder' + +Class: http://purl.obolibrary.org/obo/MONDO_0020308 +Label(s): benign childhood occipital epilepsy, Gastaut type +- 'benign childhood occipital epilepsy, Gastaut type' SubClassOf 'childhood-onset epilepsy syndrome' + +Class: http://purl.obolibrary.org/obo/MONDO_0020307 +Label(s): benign childhood occipital epilepsy, Panayiotopoulos type +- 'benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'childhood-onset epilepsy syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0018045 Label(s): Hoyeraal-Hreidarsson syndrome - 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' -+ 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' - -Class: http://purl.obolibrary.org/obo/MONDO_0015289 -Label(s): infectious epithelial keratitis -- 'infectious epithelial keratitis' SubClassOf 'corneal infection' -+ 'infectious epithelial keratitis' SubClassOf 'corneal infection' - -Class: http://purl.obolibrary.org/obo/MONDO_0010661 -Label(s): severe X-linked intellectual disability, Gustavson type -- 'severe X-linked intellectual disability, Gustavson type' SubClassOf 'X-linked syndromic intellectual disability' -+ 'severe X-linked intellectual disability, Gustavson type' SubClassOf 'X-linked syndromic intellectual disability' ++ 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation' Class: http://purl.obolibrary.org/obo/MONDO_0015282 Label(s): cardiomyopathy-cataract-hip spine disease syndrome - 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'articular cartilage disorder' - 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' - 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'Cataract' -+ 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Cataract' -+ 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'articular cartilage disorder' -+ 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0010665 -Label(s): Wilson-Turner syndrome -- 'Wilson-Turner syndrome' SubClassOf 'X-linked syndromic intellectual disability' -+ 'Wilson-Turner syndrome' SubClassOf 'X-linked syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0010667 -Label(s): Prieto syndrome -- 'Prieto syndrome' SubClassOf 'X-linked syndromic intellectual disability' -+ 'Prieto syndrome' SubClassOf 'X-linked syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0015267 -Label(s): Feingold syndrome -- 'Feingold syndrome' SubClassOf 'syndromic disease' -+ 'Feingold syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0015262 -Label(s): brachyolmia -- 'brachyolmia' SubClassOf 'spondylodysplastic dysplasia' -+ 'brachyolmia' SubClassOf 'spondylodysplastic dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0015253 -Label(s): Diamond-Blackfan anemia -- 'Diamond-Blackfan anemia' SubClassOf 'pure red-cell aplasia' -+ 'Diamond-Blackfan anemia' SubClassOf 'pure red-cell aplasia' - -Class: http://www.ebi.ac.uk/efo/EFO_1000593 -Label(s): Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation -- 'Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation' SubClassOf 'thyroid carcinoma' -+ 'Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation' SubClassOf 'thyroid carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000578 -Label(s): Thymic Small Cell Carcinoma -- 'Thymic Small Cell Carcinoma' SubClassOf 'thymic neuroendocrine carcinoma' -+ 'Thymic Small Cell Carcinoma' SubClassOf 'thymic neuroendocrine carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000577 -Label(s): Thymic Sarcomatoid Carcinoma -- 'Thymic Sarcomatoid Carcinoma' SubClassOf 'Thymic Carcinoma' -+ 'Thymic Sarcomatoid Carcinoma' SubClassOf 'Thymic Carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000576 -Label(s): Thymic Carcinoma -- 'Thymic Carcinoma' SubClassOf 'carcinoma' -+ 'Thymic Carcinoma' SubClassOf 'carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000563 -Label(s): Teratoma with Malignant Transformation -- 'Teratoma with Malignant Transformation' SubClassOf 'teratoma' -+ 'Teratoma with Malignant Transformation' SubClassOf 'teratoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000560 -Label(s): T-Cell Prolymphocytic Leukemia -- 'T-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' -+ 'T-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' - -Class: http://www.ebi.ac.uk/efo/EFO_1000559 -Label(s): Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease -- 'Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease' SubClassOf 'systemic mastocytosis' -+ 'Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease' SubClassOf 'systemic mastocytosis' - -Class: http://www.ebi.ac.uk/efo/EFO_1000539 -Label(s): Small Intestinal Tubulovillous Adenoma -- 'Small Intestinal Tubulovillous Adenoma' SubClassOf 'adenoma of small intestine' -+ 'Small Intestinal Tubulovillous Adenoma' SubClassOf 'adenoma of small intestine' - -Class: http://www.ebi.ac.uk/efo/EFO_1000538 -Label(s): Small Intestinal Tubular Adenoma -- 'Small Intestinal Tubular Adenoma' SubClassOf 'tubular adenoma' -- 'Small Intestinal Tubular Adenoma' SubClassOf 'adenoma of small intestine' -+ 'Small Intestinal Tubular Adenoma' SubClassOf 'tubular adenoma' -+ 'Small Intestinal Tubular Adenoma' SubClassOf 'adenoma of small intestine' - -Class: http://www.ebi.ac.uk/efo/EFO_1000520 -Label(s): Sarcomatoid Carcinoma -- 'Sarcomatoid Carcinoma' SubClassOf 'carcinoma' -+ 'Sarcomatoid Carcinoma' SubClassOf 'carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0006718 -Label(s): ovarian leiomyosarcoma -- 'ovarian leiomyosarcoma' SubClassOf 'leiomyosarcoma' -+ 'ovarian leiomyosarcoma' SubClassOf 'leiomyosarcoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000510 -Label(s): Retroperitoneal Inflammatory Myofibroblastic Tumor -- 'Retroperitoneal Inflammatory Myofibroblastic Tumor' SubClassOf 'retroperitoneal neoplasm' -+ 'Retroperitoneal Inflammatory Myofibroblastic Tumor' SubClassOf 'retroperitoneal neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0030989 -Label(s): spermatogenic failure 53 -- 'spermatogenic failure 53' SubClassOf 'azoospermia' -+ 'spermatogenic failure 53' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0030979 -Label(s): endove syndrome, limb-brain type -- 'endove syndrome, limb-brain type' SubClassOf 'genetic disorder' -+ 'endove syndrome, limb-brain type' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040032 - -Class: http://purl.obolibrary.org/obo/MONDO_0054724 -Label(s): spermatogenic failure 20 -- 'spermatogenic failure 20' SubClassOf 'azoospermia' -+ 'spermatogenic failure 20' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0054729 -Label(s): spermatogenic failure 25 -- 'spermatogenic failure 25' SubClassOf 'azoospermia' -+ 'spermatogenic failure 25' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0002785 -Label(s): skull base neoplasm -- 'skull base neoplasm' SubClassOf 'skull neoplasm' -+ 'skull base neoplasm' SubClassOf 'skull neoplasm' ++ 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'articular cartilage disorder' ++ 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy' ++ 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cataract' + +Class: http://www.ebi.ac.uk/efo/EFO_1000592 +Label(s): Thyroid Gland Oncocytic Follicular Carcinoma +- 'Thyroid Gland Oncocytic Follicular Carcinoma' SubClassOf 'adenocarcinoma' ++ 'Thyroid Gland Oncocytic Follicular Carcinoma' SubClassOf 'adenocarcinoma' + +Class: http://purl.obolibrary.org/obo/MONDO_0030972 +Label(s): spermatogenic failure 74 +- 'spermatogenic failure 74' SubClassOf 'azoospermia' ++ 'spermatogenic failure 74' SubClassOf 'azoospermia' + +Class: http://purl.obolibrary.org/obo/MONDO_0011604 +Label(s): spondylo-ocular syndrome ++ 'spondylo-ocular syndrome' SubClassOf 'hereditary disorder of connective tissue' ++ 'spondylo-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040022 Class: http://purl.obolibrary.org/obo/MONDO_0020289 Label(s): congenital tricuspid malformation - 'congenital tricuspid malformation' SubClassOf 'disease has major feature' some 'Abnormal tricuspid valve morphology' - 'congenital tricuspid malformation' EquivalentTo 'disease' and ('disease has major feature' some 'Abnormal tricuspid valve morphology') -+ 'congenital tricuspid malformation' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal tricuspid valve morphology' -+ 'congenital tricuspid malformation' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal tricuspid valve morphology') - -Class: http://purl.obolibrary.org/obo/MONDO_0030938 -Label(s): spermatogenic failure 52 -- 'spermatogenic failure 52' SubClassOf 'azoospermia' -+ 'spermatogenic failure 52' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0030931 -Label(s): proteasome-associated autoinflammatory syndrome 4 -- 'proteasome-associated autoinflammatory syndrome 4' SubClassOf 'proteosome-associated autoinflammatory syndrome' -+ 'proteasome-associated autoinflammatory syndrome 4' SubClassOf 'proteosome-associated autoinflammatory syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011624 -Label(s): transaldolase deficiency -- 'transaldolase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' -+ 'transaldolase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0019011 -Label(s): Charcot-Marie-Tooth disease type 1 -- 'Charcot-Marie-Tooth disease type 1' SubClassOf 'Charcot-Marie-Tooth disease' -+ 'Charcot-Marie-Tooth disease type 1' SubClassOf 'Charcot-Marie-Tooth disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0030924 -Label(s): proteasome-associated autoinflammatory syndrome 5 -- 'proteasome-associated autoinflammatory syndrome 5' SubClassOf 'proteosome-associated autoinflammatory syndrome' -+ 'proteasome-associated autoinflammatory syndrome 5' SubClassOf 'proteosome-associated autoinflammatory syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0002735 -Label(s): anal canal adenocarcinoma -- 'anal canal adenocarcinoma' SubClassOf 'anus adenocarcinoma' -+ 'anal canal adenocarcinoma' SubClassOf 'anus adenocarcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0054748 -Label(s): Fanconi anemia, complementation group S -- 'Fanconi anemia, complementation group S' SubClassOf 'Fanconi anemia' -+ 'Fanconi anemia, complementation group S' SubClassOf 'Fanconi anemia' ++ 'congenital tricuspid malformation' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal tricuspid valve morphology' ++ 'congenital tricuspid malformation' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal tricuspid valve morphology') Class: http://purl.obolibrary.org/obo/MONDO_0020246 Label(s): inherited vitreoretinopathy - 'inherited vitreoretinopathy' EquivalentTo 'genetic disorder' and ('disease has major feature' some 'Vitreoretinopathy') - 'inherited vitreoretinopathy' SubClassOf 'disease has major feature' some 'Vitreoretinopathy' -+ 'inherited vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Vitreoretinopathy' -+ 'inherited vitreoretinopathy' EquivalentTo 'genetic disorder' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Vitreoretinopathy') ++ 'inherited vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Vitreoretinopathy' ++ 'inherited vitreoretinopathy' EquivalentTo 'genetic disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Vitreoretinopathy') Class: http://purl.obolibrary.org/obo/MONDO_0020242 Label(s): hereditary macular dystrophy - 'hereditary macular dystrophy' SubClassOf 'disease has major feature' some 'Macular dystrophy' - 'hereditary macular dystrophy' EquivalentTo 'inherited retinal dystrophy' and ('disease has major feature' some 'Macular dystrophy') -+ 'hereditary macular dystrophy' EquivalentTo 'inherited retinal dystrophy' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Macular dystrophy') -+ 'hereditary macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Macular dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0011664 -Label(s): immunodeficiency due to CD25 deficiency -- 'immunodeficiency due to CD25 deficiency' SubClassOf 'immunodeficiency disease' -+ 'immunodeficiency due to CD25 deficiency' SubClassOf 'immunodeficiency disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0002718 -Label(s): central nervous system teratoma -- 'central nervous system teratoma' SubClassOf 'central nervous system nongerminomatous germ cell tumor' -+ 'central nervous system teratoma' SubClassOf 'central nervous system nongerminomatous germ cell tumor' - -Class: http://purl.obolibrary.org/obo/MONDO_0031329 -Label(s): craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome -- 'craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome' SubClassOf 'syndromic disease' -+ 'craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0003422 -Label(s): lung adenoma -- 'lung adenoma' SubClassOf 'benign epithelial neoplasm' -+ 'lung adenoma' SubClassOf 'benign epithelial neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0023122 -Label(s): familial prostate carcinoma -- 'familial prostate carcinoma' SubClassOf 'genetic disorder' -+ 'familial prostate carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700275 - -Class: http://purl.obolibrary.org/obo/MONDO_0020361 -Label(s): partial cryptophthalmia -- 'partial cryptophthalmia' SubClassOf 'isolated cryptophthalmia' -+ 'partial cryptophthalmia' SubClassOf 'isolated cryptophthalmia' - -Class: http://purl.obolibrary.org/obo/MONDO_0013837 -Label(s): deafness-encephaloneuropathy-obesity-valvulopathy syndrome -- 'deafness-encephaloneuropathy-obesity-valvulopathy syndrome' SubClassOf 'coenzyme Q10 deficiency' -+ 'deafness-encephaloneuropathy-obesity-valvulopathy syndrome' SubClassOf 'coenzyme Q10 deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0003026 -Label(s): gallbladder angiosarcoma -+ 'gallbladder angiosarcoma' SubClassOf 'angiosarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0009697 -Label(s): Lafora disease -- 'Lafora disease' SubClassOf 'progressive myoclonus epilepsy' -+ 'Lafora disease' SubClassOf 'progressive myoclonus epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0002883 -Label(s): intestinal neuroendocrine neoplasm -- 'intestinal neuroendocrine neoplasm' SubClassOf 'digestive system neuroendocrine neoplasm' -+ 'intestinal neuroendocrine neoplasm' SubClassOf 'digestive system neuroendocrine neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0020387 -Label(s): double outlet right ventricle with subpulmonary ventricular septal defect -- 'double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf 'double outlet right ventricle' -+ 'double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf 'double outlet right ventricle' - -Class: http://purl.obolibrary.org/obo/MONDO_0015169 -Label(s): chronic diarrhea due to glucoamylase deficiency -- 'chronic diarrhea due to glucoamylase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' -+ 'chronic diarrhea due to glucoamylase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' - -Class: http://purl.obolibrary.org/obo/MONDO_0015168 -Label(s): arthrogryposis multiplex congenita -- 'arthrogryposis multiplex congenita' SubClassOf 'arthrogryposis syndrome' -+ 'arthrogryposis multiplex congenita' SubClassOf 'arthrogryposis syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0015152 -Label(s): autosomal recessive limb-girdle muscular dystrophy -- 'autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'autosomal recessive disease' -- 'autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'limb-girdle muscular dystrophy' -+ 'autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'autosomal recessive disease' -+ 'autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'limb-girdle muscular dystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0015151 -Label(s): muscular dystrophy, limb-girdle, autosomal dominant -- 'muscular dystrophy, limb-girdle, autosomal dominant' SubClassOf 'limb-girdle muscular dystrophy' -- 'muscular dystrophy, limb-girdle, autosomal dominant' SubClassOf 'autosomal dominant disease' -+ 'muscular dystrophy, limb-girdle, autosomal dominant' SubClassOf 'limb-girdle muscular dystrophy' -+ 'muscular dystrophy, limb-girdle, autosomal dominant' SubClassOf 'autosomal dominant disease' - -Class: http://www.ebi.ac.uk/efo/EFO_1000491 -Label(s): Primary Effusion Lymphoma -- 'Primary Effusion Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' -+ 'Primary Effusion Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000480 -Label(s): Placental Hemangioma -- 'Placental Hemangioma' SubClassOf 'hemangioma' -+ 'Placental Hemangioma' SubClassOf 'hemangioma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000477 -Label(s): Pituicytoma -- 'Pituicytoma' SubClassOf 'posterior pituitary gland neoplasm' -+ 'Pituicytoma' SubClassOf 'posterior pituitary gland neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_1000454 -Label(s): Paranasal Sinus Adenoid Cystic Carcinoma -- 'Paranasal Sinus Adenoid Cystic Carcinoma' SubClassOf 'paranasal sinus carcinoma' -+ 'Paranasal Sinus Adenoid Cystic Carcinoma' SubClassOf 'paranasal sinus carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000432 -Label(s): Ovarian Squamous Cell Carcinoma -- 'Ovarian Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' -+ 'Ovarian Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000428 -Label(s): Ovarian Serous Adenofibroma -- 'Ovarian Serous Adenofibroma' SubClassOf 'serous adenofibroma' -+ 'Ovarian Serous Adenofibroma' SubClassOf 'serous adenofibroma' - -Class: http://purl.obolibrary.org/obo/MONDO_0030899 -Label(s): oculocutaneous albinism type 8 -- 'oculocutaneous albinism type 8' SubClassOf 'oculocutaneous albinism' -+ 'oculocutaneous albinism type 8' SubClassOf 'oculocutaneous albinism' - -Class: http://purl.obolibrary.org/obo/MONDO_0030869 -Label(s): spermatogenic failures 50 -- 'spermatogenic failures 50' SubClassOf 'azoospermia' -+ 'spermatogenic failures 50' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0030868 -Label(s): spermatogenic failure 49 -- 'spermatogenic failure 49' SubClassOf 'azoospermia' -+ 'spermatogenic failure 49' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0002691 -Label(s): liver cancer -- 'liver cancer' SubClassOf 'malignant endocrine neoplasm' -+ 'liver cancer' SubClassOf 'malignant endocrine neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0030861 -Label(s): osteogenesis imperfecta, type 21 -- 'osteogenesis imperfecta, type 21' SubClassOf 'osteogenesis imperfecta' -+ 'osteogenesis imperfecta, type 21' SubClassOf 'osteogenesis imperfecta' - -Class: http://purl.obolibrary.org/obo/MONDO_0002685 -Label(s): childhood choroid plexus carcinoma -- 'childhood choroid plexus carcinoma' SubClassOf 'choroid plexus carcinoma' -+ 'childhood choroid plexus carcinoma' SubClassOf 'choroid plexus carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0002684 -Label(s): atypical choroid plexus papilloma -- 'atypical choroid plexus papilloma' SubClassOf 'choroid plexus neoplasm' -+ 'atypical choroid plexus papilloma' SubClassOf 'choroid plexus neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0030846 -Label(s): spermatogenic failure 48 -- 'spermatogenic failure 48' SubClassOf 'azoospermia' -+ 'spermatogenic failure 48' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0030844 -Label(s): spermatogenic failure 47 -- 'spermatogenic failure 47' SubClassOf 'azoospermia' -+ 'spermatogenic failure 47' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0001081 -Label(s): acute cervicitis -- 'acute cervicitis' SubClassOf 'cervicitis' -+ 'acute cervicitis' SubClassOf 'cervicitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0011725 -Label(s): Crigler-Najjar syndrome type 2 -- 'Crigler-Najjar syndrome type 2' SubClassOf 'Crigler-Najjar syndrome' -+ 'Crigler-Najjar syndrome type 2' SubClassOf 'Crigler-Najjar syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0019113 -Label(s): benign paroxysmal torticollis of infancy -- 'benign paroxysmal torticollis of infancy' SubClassOf 'paroxysmal dystonia' -+ 'benign paroxysmal torticollis of infancy' SubClassOf 'paroxysmal dystonia' - -Class: http://purl.obolibrary.org/obo/MONDO_0002631 -Label(s): conventional osteosarcoma -- 'conventional osteosarcoma' SubClassOf 'bone osteosarcoma' -+ 'conventional osteosarcoma' SubClassOf 'bone osteosarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0011758 -Label(s): Hurler syndrome -- 'Hurler syndrome' SubClassOf 'mucopolysaccharidosis type 1' -+ 'Hurler syndrome' SubClassOf 'mucopolysaccharidosis type 1' - -Class: http://purl.obolibrary.org/obo/MONDO_0002624 -Label(s): bone leiomyosarcoma -- 'bone leiomyosarcoma' SubClassOf 'leiomyosarcoma' -+ 'bone leiomyosarcoma' SubClassOf 'leiomyosarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0019148 -Label(s): Wolman disease -- 'Wolman disease' SubClassOf 'lysosomal acid lipase deficiency' -+ 'Wolman disease' SubClassOf 'lysosomal acid lipase deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0011760 -Label(s): Scheie syndrome -- 'Scheie syndrome' SubClassOf 'mucopolysaccharidosis type 1' -+ 'Scheie syndrome' SubClassOf 'mucopolysaccharidosis type 1' - -Class: http://purl.obolibrary.org/obo/MONDO_0002619 -Label(s): bone fibrosarcoma -- 'bone fibrosarcoma' SubClassOf 'bone sarcoma' -+ 'bone fibrosarcoma' SubClassOf 'bone sarcoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0019152 -Label(s): Oguchi disease -+ 'Oguchi disease' SubClassOf 'congenital stationary night blindness' - -Class: http://purl.obolibrary.org/obo/MONDO_0010720 -Label(s): partial androgen insensitivity syndrome -- 'partial androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' -+ 'partial androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011789 -Label(s): familial meningioma -- 'familial meningioma' SubClassOf 'meningioma' -+ 'familial meningioma' SubClassOf 'meningioma' - -Class: http://purl.obolibrary.org/obo/MONDO_0016740 -Label(s): choriocarcinoma of the central nervous system -- 'choriocarcinoma of the central nervous system' SubClassOf 'central nervous system nongerminomatous germ cell tumor' -+ 'choriocarcinoma of the central nervous system' SubClassOf 'central nervous system nongerminomatous germ cell tumor' ++ 'hereditary macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Macular dystrophy' ++ 'hereditary macular dystrophy' EquivalentTo 'inherited retinal dystrophy' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Macular dystrophy') + +Class: http://purl.obolibrary.org/obo/MONDO_0030818 +Label(s): spermatogenic failure 73 +- 'spermatogenic failure 73' SubClassOf 'azoospermia' ++ 'spermatogenic failure 73' SubClassOf 'azoospermia' Class: http://purl.obolibrary.org/obo/MONDO_0019197 Label(s): folinic acid-responsive seizures -- 'folinic acid-responsive seizures' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' -+ 'folinic acid-responsive seizures' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0010743 -Label(s): thrombocytopenia 1 -- 'thrombocytopenia 1' SubClassOf 'inherited thrombocytopenia' -+ 'thrombocytopenia 1' SubClassOf 'inherited thrombocytopenia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010752 -Label(s): VACTERL association, X-linked, with or without hydrocephalus -- 'VACTERL association, X-linked, with or without hydrocephalus' SubClassOf 'VACTERL/vater association' -+ 'VACTERL association, X-linked, with or without hydrocephalus' SubClassOf 'VACTERL/vater association' - -Class: http://purl.obolibrary.org/obo/MONDO_0015099 -Label(s): unilateral hemispheric polymicrogyria -- 'unilateral hemispheric polymicrogyria' SubClassOf 'unilateral polymicrogyria' -+ 'unilateral hemispheric polymicrogyria' SubClassOf 'unilateral polymicrogyria' - -Class: http://purl.obolibrary.org/obo/MONDO_0015094 -Label(s): subependymal nodular heterotopia -- 'subependymal nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' -+ 'subependymal nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' - -Class: http://purl.obolibrary.org/obo/MONDO_0015093 -Label(s): sub-cortical nodular heterotopia -- 'sub-cortical nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' -+ 'sub-cortical nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' - -Class: http://purl.obolibrary.org/obo/MONDO_0015085 -Label(s): bathing suit ichthyosis -- 'bathing suit ichthyosis' SubClassOf 'autosomal recessive congenital ichthyosis' -+ 'bathing suit ichthyosis' SubClassOf 'autosomal recessive congenital ichthyosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0018150 -Label(s): Gaucher disease -- 'Gaucher disease' SubClassOf 'sphingolipidosis' -+ 'Gaucher disease' SubClassOf 'sphingolipidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0015072 -Label(s): liver neuroendocrine carcinoma -- 'liver neuroendocrine carcinoma' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' -+ 'liver neuroendocrine carcinoma' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' - -Class: http://purl.obolibrary.org/obo/MONDO_0015069 -Label(s): neuroendocrine tumor of the anal canal -- 'neuroendocrine tumor of the anal canal' SubClassOf 'anal canal neuroendocrine neoplasm' -+ 'neuroendocrine tumor of the anal canal' SubClassOf 'anal canal neuroendocrine neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0015064 -Label(s): jejunal neuroendocrine tumor, well differentiated, low or intermediate grade -- 'jejunal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'jejunal neoplasm' -+ 'jejunal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'jejunal neoplasm' +- 'folinic acid-responsive seizures' SubClassOf 'metabolic epilepsy' ++ 'folinic acid-responsive seizures' SubClassOf 'metabolic epilepsy' Class: http://www.ebi.ac.uk/efo/EFO_1000395 Label(s): Nevus of Ito - 'Nevus of Ito' SubClassOf 'disease shares features of' some 'Nevus of Ota' -+ 'Nevus of Ito' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Nevus of Ota' - -Class: http://www.ebi.ac.uk/efo/EFO_1000386 -Label(s): Mucinous Gastric Adenocarcinoma -- 'Mucinous Gastric Adenocarcinoma' SubClassOf 'mucinous carcinoma' -+ 'Mucinous Gastric Adenocarcinoma' SubClassOf 'mucinous carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0015038 -Label(s): lissencephaly with cerebellar hypoplasia type E -- 'lissencephaly with cerebellar hypoplasia type E' SubClassOf 'lissencephaly with cerebellar hypoplasia' -+ 'lissencephaly with cerebellar hypoplasia type E' SubClassOf 'lissencephaly with cerebellar hypoplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0015034 -Label(s): lissencephaly with cerebellar hypoplasia type A -- 'lissencephaly with cerebellar hypoplasia type A' SubClassOf 'lissencephaly with cerebellar hypoplasia' -+ 'lissencephaly with cerebellar hypoplasia type A' SubClassOf 'lissencephaly with cerebellar hypoplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0015032 -Label(s): intraneural perineurioma -- 'intraneural perineurioma' SubClassOf 'perineurioma' -+ 'intraneural perineurioma' SubClassOf 'perineurioma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000379 -Label(s): Minor Salivary Gland Adenocarcinoma -- 'Minor Salivary Gland Adenocarcinoma' SubClassOf 'minor salivary gland carcinoma' -+ 'Minor Salivary Gland Adenocarcinoma' SubClassOf 'minor salivary gland carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0010791 -Label(s): myoglobinuria, recurrent -- 'myoglobinuria, recurrent' SubClassOf 'hereditary myoglobinuria' -- 'myoglobinuria, recurrent' SubClassOf 'hereditary skeletal muscle disorder' - -Class: http://www.ebi.ac.uk/efo/EFO_1000366 -Label(s): Mediastinal Malignant Germ Cell Tumor -- 'Mediastinal Malignant Germ Cell Tumor' SubClassOf 'extragonadal germ cell cancer' -+ 'Mediastinal Malignant Germ Cell Tumor' SubClassOf 'extragonadal germ cell cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0018184 -Label(s): gastric linitis plastica -- 'gastric linitis plastica' SubClassOf 'diffuse gastric adenocarcinoma' -+ 'gastric linitis plastica' SubClassOf 'diffuse gastric adenocarcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000356 -Label(s): Malignant Mixed Neoplasm -- 'Malignant Mixed Neoplasm' SubClassOf 'cancer' -+ 'Malignant Mixed Neoplasm' SubClassOf 'cancer' - -Class: http://www.ebi.ac.uk/efo/EFO_1000352 -Label(s): Malignant Germ Cell Tumor -- 'Malignant Germ Cell Tumor' SubClassOf 'cancer' -+ 'Malignant Germ Cell Tumor' SubClassOf 'cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0006788 -Label(s): obsolete hydrophthalmos -- 'obsolete hydrophthalmos' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://www.ebi.ac.uk/efo/EFO_1000344 -Label(s): Major Salivary Gland Carcinoma -- 'Major Salivary Gland Carcinoma' SubClassOf 'major salivary gland cancer' -+ 'Major Salivary Gland Carcinoma' SubClassOf 'major salivary gland cancer' - -Class: http://www.ebi.ac.uk/efo/EFO_1000334 -Label(s): Lung Lymphangioleiomyomatosis -- 'Lung Lymphangioleiomyomatosis' SubClassOf 'lung PEComa' -+ 'Lung Lymphangioleiomyomatosis' SubClassOf 'lung PEComa' - -Class: http://www.ebi.ac.uk/efo/EFO_0000326 -Label(s): central nervous system cancer -- 'central nervous system cancer' SubClassOf 'Central Nervous System Neoplasm' -+ 'central nervous system cancer' SubClassOf 'Central Nervous System Neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_1000321 -Label(s): Leydig Cell Tumor -- 'Leydig Cell Tumor' SubClassOf 'sex cord-stromal tumor' -+ 'Leydig Cell Tumor' SubClassOf 'sex cord-stromal tumor' - -Class: http://www.ebi.ac.uk/efo/EFO_1000314 -Label(s): Kidney Medullary Carcinoma -- 'Kidney Medullary Carcinoma' SubClassOf 'renal cell carcinoma' -+ 'Kidney Medullary Carcinoma' SubClassOf 'renal cell carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0006505 -Label(s): chronic bronchitis -- 'chronic bronchitis' SubClassOf 'bronchitis' -+ 'chronic bronchitis' SubClassOf 'bronchitis' - -Class: http://www.ebi.ac.uk/efo/EFO_1000308 -Label(s): Jejunal Neuroendocrine Tumor G1 -- 'Jejunal Neuroendocrine Tumor G1' SubClassOf 'jejunal neuroendocrine tumor, well differentiated, low or intermediate grade' -+ 'Jejunal Neuroendocrine Tumor G1' SubClassOf 'jejunal neuroendocrine tumor, well differentiated, low or intermediate grade' - -Class: http://www.ebi.ac.uk/efo/EFO_1000307 -Label(s): Invasive Breast Carcinoma -- 'Invasive Breast Carcinoma' SubClassOf 'invasive carcinoma' -+ 'Invasive Breast Carcinoma' SubClassOf 'invasive carcinoma' - -Class: http://purl.obolibrary.org/obo/GO_0006600 -Label(s): creatine metabolic process -- 'creatine metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://purl.obolibrary.org/obo/MONDO_0100164 -Label(s): permanent neonatal diabetes mellitus -- 'permanent neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' -+ 'permanent neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' - -Class: http://purl.obolibrary.org/obo/MONDO_0020088 -Label(s): familial partial lipodystrophy -- 'familial partial lipodystrophy' SubClassOf 'hereditary lipodystrophy' -+ 'familial partial lipodystrophy' SubClassOf 'hereditary lipodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0011814 -Label(s): Smith-McCort dysplasia 1 -- 'Smith-McCort dysplasia 1' SubClassOf 'Smith-McCort dysplasia' -+ 'Smith-McCort dysplasia 1' SubClassOf 'Smith-McCort dysplasia' ++ 'Nevus of Ito' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Nevus of Ota' + +Class: http://www.ebi.ac.uk/efo/EFO_1000309 +Label(s): Juvenile Myelomonocytic Leukemia +- 'Juvenile Myelomonocytic Leukemia' SubClassOf 'hereditary disorder of connective tissue' + +Class: http://purl.obolibrary.org/obo/MONDO_0100133 +Label(s): mitochondrial complex I deficiency +- 'mitochondrial complex I deficiency' SubClassOf 'disease has basis in dysfunction of' some 'obsolete mitochondrial respiratory chain complex I' +- 'mitochondrial complex I deficiency' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some 'obsolete mitochondrial respiratory chain complex I') Class: http://purl.obolibrary.org/obo/MONDO_0011817 Label(s): coronary heart disease, susceptibility to, 1 - 'coronary heart disease, susceptibility to, 1' SubClassOf 'predisposes towards' some 'coronary artery disease' -+ 'coronary heart disease, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'coronary artery disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0030727 -Label(s): developmental and epileptic encephalopathy 101 -- 'developmental and epileptic encephalopathy 101' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy 101' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0019215 -Label(s): classic organic aciduria -- 'classic organic aciduria' SubClassOf 'inborn organic aciduria' -+ 'classic organic aciduria' SubClassOf 'inborn organic aciduria' - -Class: http://purl.obolibrary.org/obo/MONDO_0011852 -Label(s): nonsyndromic congenital nail disorder 8 -- 'nonsyndromic congenital nail disorder 8' SubClassOf 'inherited isolated nail anomaly' -+ 'nonsyndromic congenital nail disorder 8' SubClassOf 'inherited isolated nail anomaly' - -Class: http://purl.obolibrary.org/obo/CL_0002063 -Label(s): pulmonary alveolar type 2 cell -+ 'pulmonary alveolar type 2 cell' SubClassOf 'squamous epithelial cell' - -Class: http://purl.obolibrary.org/obo/CL_0002062 -Label(s): pulmonary alveolar type 1 cell -+ 'pulmonary alveolar type 1 cell' SubClassOf 'squamous epithelial cell' - -Class: http://www.ebi.ac.uk/efo/EFO_0002499 -Label(s): anaplastic astrocytoma -- 'anaplastic astrocytoma' SubClassOf 'anaplastic cancer' -+ 'anaplastic astrocytoma' SubClassOf 'anaplastic cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0002516 -Label(s): digestive system cancer -- 'digestive system cancer' SubClassOf 'cancer' -+ 'digestive system cancer' SubClassOf 'cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0019257 -Label(s): hemochromatosis type 2 -- 'hemochromatosis type 2' SubClassOf 'hereditary hemochromatosis' -+ 'hemochromatosis type 2' SubClassOf 'hereditary hemochromatosis' ++ 'coronary heart disease, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease' + +Class: http://purl.obolibrary.org/obo/MONDO_0030733 +Label(s): spermatogenic failure 70 +- 'spermatogenic failure 70' SubClassOf 'azoospermia' ++ 'spermatogenic failure 70' SubClassOf 'azoospermia' Class: http://purl.obolibrary.org/obo/MONDO_0011875 Label(s): epilepsy, idiopathic generalized, susceptibility to, 11 -- 'epilepsy, idiopathic generalized, susceptibility to, 11' SubClassOf 'epilepsy, juvenile absence, susceptibility to' - 'epilepsy, idiopathic generalized, susceptibility to, 11' SubClassOf 'predisposes towards' some 'generalised epilepsy' -+ 'epilepsy, idiopathic generalized, susceptibility to, 11' SubClassOf 'epilepsy, juvenile absence, susceptibility to' -+ 'epilepsy, idiopathic generalized, susceptibility to, 11' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'generalised epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0019262 -Label(s): juvenile neuronal ceroid lipofuscinosis -- 'juvenile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' -+ 'juvenile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0019263 -Label(s): autosomal erythropoietic protoporphyria -- 'autosomal erythropoietic protoporphyria' SubClassOf 'erythropoietic protoporphyria' -+ 'autosomal erythropoietic protoporphyria' SubClassOf 'erythropoietic protoporphyria' - -Class: http://purl.obolibrary.org/obo/MONDO_0025699 -Label(s): Coffin-Siris syndrome 12 -- 'Coffin-Siris syndrome 12' SubClassOf 'Coffin-Siris syndrome' -+ 'Coffin-Siris syndrome 12' SubClassOf 'Coffin-Siris syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0043195 Label(s): Rubinstein Taybi like syndrome - 'Rubinstein Taybi like syndrome' SubClassOf 'disease shares features of' some 'Rubinstein-Taybi syndrome' -+ 'Rubinstein Taybi like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Rubinstein-Taybi syndrome' - -Class: http://purl.obolibrary.org/obo/GO_0006206 -Label(s): pyrimidine nucleobase metabolic process -- 'pyrimidine nucleobase metabolic process' SubClassOf 'organonitrogen compound metabolic process' - -Class: http://www.ebi.ac.uk/efo/EFO_0009029 -Label(s): Central precocious puberty -- 'Central precocious puberty' SubClassOf 'precocious puberty' -+ 'Central precocious puberty' SubClassOf 'precocious puberty' - -Class: http://www.ebi.ac.uk/efo/EFO_0006475 -Label(s): plasma cell leukemia -- 'plasma cell leukemia' SubClassOf 'plasma cell neoplasm' -+ 'plasma cell leukemia' SubClassOf 'plasma cell neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_1000274 -Label(s): Gastric Mucosa-Associated Lymphoid Tissue Lymphoma -- 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'gastric non-hodgkin lymphoma' -+ 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'gastric non-hodgkin lymphoma' - -Class: http://www.ebi.ac.uk/efo/EFO_0006462 -Label(s): ovarian mucinous adenocarcinoma -- 'ovarian mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' -+ 'ovarian mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0009486 -Label(s): autosomal recessive Kenny-Caffey syndrome -- 'autosomal recessive Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' -- 'autosomal recessive Kenny-Caffey syndrome' SubClassOf 'autosomal recessive disease' -+ 'autosomal recessive Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' -+ 'autosomal recessive Kenny-Caffey syndrome' SubClassOf 'autosomal recessive disease' - -Class: http://www.ebi.ac.uk/efo/EFO_0009041 -Label(s): Cushing syndrome due to macronodular adrenal hyperplasia -- 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf 'ACTH-independent Cushing syndrome' -+ 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf 'ACTH-independent Cushing syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_1000246 -Label(s): Ethmoid Sinus Adenoid Cystic Carcinoma -- 'Ethmoid Sinus Adenoid Cystic Carcinoma' SubClassOf 'Paranasal Sinus Adenoid Cystic Carcinoma' -+ 'Ethmoid Sinus Adenoid Cystic Carcinoma' SubClassOf 'Paranasal Sinus Adenoid Cystic Carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000244 -Label(s): Epithelioid Cell Uveal Melanoma -- 'Epithelioid Cell Uveal Melanoma' SubClassOf 'epithelioid cell melanoma' -+ 'Epithelioid Cell Uveal Melanoma' SubClassOf 'epithelioid cell melanoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000220 -Label(s): Disseminated Peritoneal Leiomyomatosis -- 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'peritoneal benign neoplasm' -+ 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'peritoneal benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0030695 -Label(s): developmental and epileptic encephalopathy 100 -- 'developmental and epileptic encephalopathy 100' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy 100' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://www.ebi.ac.uk/efo/EFO_0009064 -Label(s): X-linked erythropoietic protoporphyria -- 'X-linked erythropoietic protoporphyria' SubClassOf 'erythropoietic protoporphyria' -+ 'X-linked erythropoietic protoporphyria' SubClassOf 'erythropoietic protoporphyria' - -Class: http://www.ebi.ac.uk/efo/EFO_1000218 -Label(s): Digestive System Carcinoma -- 'Digestive System Carcinoma' SubClassOf 'carcinoma' -+ 'Digestive System Carcinoma' SubClassOf 'carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0100223 -Label(s): mitochondrial complex I deficiency, nuclear type -- 'mitochondrial complex I deficiency, nuclear type' SubClassOf 'mitochondrial complex I deficiency' -+ 'mitochondrial complex I deficiency, nuclear type' SubClassOf 'mitochondrial complex I deficiency' - -Class: http://www.ebi.ac.uk/efo/EFO_0002500 -Label(s): anaplastic oligoastrocytoma -+ 'anaplastic oligoastrocytoma' SubClassOf 'Malignant Mixed Neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0010008 -Label(s): sarcosinemia -- 'sarcosinemia' SubClassOf 'inborn disorder of serine family metabolism' -+ 'sarcosinemia' SubClassOf 'inborn disorder of serine family metabolism' ++ 'Rubinstein Taybi like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Rubinstein-Taybi syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0100232 Label(s): psoriatic arthritis, susceptibility to - 'psoriatic arthritis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'psoriatic arthritis') - 'psoriatic arthritis, susceptibility to' SubClassOf 'predisposes towards' some 'psoriatic arthritis' -+ 'psoriatic arthritis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'psoriatic arthritis') -+ 'psoriatic arthritis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'psoriatic arthritis' ++ 'psoriatic arthritis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'psoriatic arthritis') ++ 'psoriatic arthritis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'psoriatic arthritis' + +Class: http://purl.obolibrary.org/obo/MONDO_0030677 +Label(s): Charcot-Marie-Tooth disease, demyelinating, IIA 1I ++ 'Charcot-Marie-Tooth disease, demyelinating, IIA 1I' SubClassOf 'POLR3B-related disorder' Class: http://www.ebi.ac.uk/efo/EFO_0009071 Label(s): malignant hyperthermia, susceptibility to, 1 - 'malignant hyperthermia, susceptibility to, 1' SubClassOf 'predisposes towards' some 'malignant hyperthermia of anesthesia' -+ 'malignant hyperthermia, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malignant hyperthermia of anesthesia' ++ 'malignant hyperthermia, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malignant hyperthermia of anesthesia' Class: http://purl.obolibrary.org/obo/MONDO_0100242 Label(s): glioma susceptibility - 'glioma susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'malignant glioma') - 'glioma susceptibility' SubClassOf 'predisposes towards' some 'malignant glioma' -+ 'glioma susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malignant glioma') -+ 'glioma susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malignant glioma' - -Class: http://purl.obolibrary.org/obo/MONDO_0100253 -Label(s): Roberts-SC phocomelia syndrome -- 'Roberts-SC phocomelia syndrome' SubClassOf 'syndromic disease' -+ 'Roberts-SC phocomelia syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0002470 -Label(s): photosensitive trichothiodystrophy -- 'photosensitive trichothiodystrophy' SubClassOf 'trichothiodystrophy' -+ 'photosensitive trichothiodystrophy' SubClassOf 'trichothiodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0019306 -Label(s): congenital non-bullous ichthyosiform erythroderma -- 'congenital non-bullous ichthyosiform erythroderma' SubClassOf 'autosomal recessive congenital ichthyosis' -+ 'congenital non-bullous ichthyosiform erythroderma' SubClassOf 'autosomal recessive congenital ichthyosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0011933 -Label(s): ALG2-congenital disorder of glycosylation -- 'ALG2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'ALG2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0011936 -Label(s): microphthalmia with brain and digit anomalies -- 'microphthalmia with brain and digit anomalies' SubClassOf 'syndromic microphthalmia' -+ 'microphthalmia with brain and digit anomalies' SubClassOf 'syndromic microphthalmia' - -Class: http://purl.obolibrary.org/obo/MONDO_0100290 -Label(s): colon serrated polyposis -- 'colon serrated polyposis' SubClassOf 'hyperplastic polyposis syndrome' -+ 'colon serrated polyposis' SubClassOf 'hyperplastic polyposis syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0002441 -Label(s): Jervell and Lange-Nielsen syndrome -- 'Jervell and Lange-Nielsen syndrome' SubClassOf 'familial long QT syndrome' -+ 'Jervell and Lange-Nielsen syndrome' SubClassOf 'familial long QT syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0100297 -Label(s): short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 -- 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1' SubClassOf 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies' -+ 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1' SubClassOf 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies' - -Class: http://purl.obolibrary.org/obo/MONDO_0011946 -Label(s): diaphanospondylodysostosis -- 'diaphanospondylodysostosis' SubClassOf 'spondylodysplastic dysplasia' -+ 'diaphanospondylodysostosis' SubClassOf 'spondylodysplastic dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0011948 -Label(s): pontocerebellar hypoplasia type 3 -- 'pontocerebellar hypoplasia type 3' SubClassOf 'pontocerebellar hypoplasia' -+ 'pontocerebellar hypoplasia type 3' SubClassOf 'pontocerebellar hypoplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0011968 -Label(s): autosomal recessive limb-girdle muscular dystrophy type 2D -- 'autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'qualitative or quantitative defects of alpha-sarcoglycan' -+ 'autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'qualitative or quantitative defects of alpha-sarcoglycan' - -Class: http://purl.obolibrary.org/obo/MONDO_0011969 -Label(s): ALG8-congenital disorder of glycosylation -- 'ALG8-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'ALG8-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0002416 -Label(s): ethmoid sinus squamous cell carcinoma -- 'ethmoid sinus squamous cell carcinoma' SubClassOf 'paranasal sinus squamous cell carcinoma' -+ 'ethmoid sinus squamous cell carcinoma' SubClassOf 'paranasal sinus squamous cell carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0002415 -Label(s): bone carcinoma -- 'bone carcinoma' SubClassOf 'carcinoma' -+ 'bone carcinoma' SubClassOf 'carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0002413 -Label(s): glycogen storage disease I -- 'glycogen storage disease I' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disease I' SubClassOf 'disorder of glycogen metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0014518 -Label(s): platelet-type bleeding disorder 19 -- 'platelet-type bleeding disorder 19' SubClassOf 'inherited bleeding disorder, platelet-type' -+ 'platelet-type bleeding disorder 19' SubClassOf 'inherited bleeding disorder, platelet-type' - -Class: http://purl.obolibrary.org/obo/MONDO_0019362 -Label(s): epidemic louse-borne typhus -- 'epidemic louse-borne typhus' SubClassOf 'typhus' -+ 'epidemic louse-borne typhus' SubClassOf 'typhus' - -Class: http://purl.obolibrary.org/obo/MONDO_0011985 -Label(s): hyper-IgM syndrome type 4 -- 'hyper-IgM syndrome type 4' SubClassOf 'hyper-IgM syndrome' -+ 'hyper-IgM syndrome type 4' SubClassOf 'hyper-IgM syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0011988 -Label(s): neutrophil immunodeficiency syndrome -- 'neutrophil immunodeficiency syndrome' SubClassOf 'functional neutrophil defect' -+ 'neutrophil immunodeficiency syndrome' SubClassOf 'functional neutrophil defect' ++ 'glioma susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malignant glioma' ++ 'glioma susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malignant glioma') Class: http://purl.obolibrary.org/obo/MONDO_0000188 Label(s): GLUT1 deficiency syndrome -- 'GLUT1 deficiency syndrome' SubClassOf 'glucose transport disorder' +- 'GLUT1 deficiency syndrome' SubClassOf 'metabolic epilepsy' ++ 'GLUT1 deficiency syndrome' SubClassOf 'metabolic epilepsy' ++ 'GLUT1 deficiency syndrome' SubClassOf 'carbohydrate transport disease' ++ 'GLUT1 deficiency syndrome' SubClassOf 'inborn carbohydrate metabolic disorder' -Class: http://purl.obolibrary.org/obo/MONDO_0019391 -Label(s): Fanconi anemia -- 'Fanconi anemia' SubClassOf 'dysostosis' -- 'Fanconi anemia' SubClassOf 'telomere syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0002974 -Label(s): cervical cancer -- 'cervical cancer' SubClassOf 'uterine cancer' -+ 'cervical cancer' SubClassOf 'uterine cancer' +Class: http://purl.obolibrary.org/obo/MONDO_0054865 +Label(s): encephalopathy due to mitochondrial and peroxisomal fission defect ++ 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'hereditary neurological disease' ++ 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'brain disease' Class: http://purl.obolibrary.org/obo/MONDO_0010853 Label(s): Helicobacter pylori infection, susceptibility to - 'Helicobacter pylori infection, susceptibility to' SubClassOf 'predisposes towards' some 'Helicobacter pylori infectious disease' -+ 'Helicobacter pylori infection, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Helicobacter pylori infectious disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0020481 -Label(s): myotonia fluctuans -- 'myotonia fluctuans' SubClassOf 'potassium-aggravated myotonia' -+ 'myotonia fluctuans' SubClassOf 'potassium-aggravated myotonia' - -Class: http://purl.obolibrary.org/obo/MONDO_0018264 -Label(s): oculocutaneous albinism type 6 -- 'oculocutaneous albinism type 6' SubClassOf 'oculocutaneous albinism' -+ 'oculocutaneous albinism type 6' SubClassOf 'oculocutaneous albinism' - -Class: http://www.ebi.ac.uk/efo/EFO_1000198 -Label(s): Colorectal Squamous Cell Carcinoma -- 'Colorectal Squamous Cell Carcinoma' SubClassOf 'colorectal carcinoma' -+ 'Colorectal Squamous Cell Carcinoma' SubClassOf 'colorectal carcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000195 -Label(s): Colorectal Neuroendocrine Tumor G1 -- 'Colorectal Neuroendocrine Tumor G1' SubClassOf 'intestinal neuroendocrine tumor G1' -+ 'Colorectal Neuroendocrine Tumor G1' SubClassOf 'intestinal neuroendocrine tumor G1' - -Class: http://www.ebi.ac.uk/efo/EFO_1000188 -Label(s): Colon Neuroendocrine Tumor G1 -- 'Colon Neuroendocrine Tumor G1' SubClassOf 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' -+ 'Colon Neuroendocrine Tumor G1' SubClassOf 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' - -Class: http://purl.obolibrary.org/obo/MONDO_0100382 -Label(s): acute myeloid leukemia, t(6;9)(p23;q34.1) -- 'acute myeloid leukemia, t(6;9)(p23;q34.1)' SubClassOf 'acute myeloid leukemia' -+ 'acute myeloid leukemia, t(6;9)(p23;q34.1)' SubClassOf 'acute myeloid leukemia' ++ 'Helicobacter pylori infection, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Helicobacter pylori infectious disease' Class: http://purl.obolibrary.org/obo/MONDO_0024462 Label(s): susceptibility to familial cutaneous melanoma - 'susceptibility to familial cutaneous melanoma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'cutaneous melanoma') - 'susceptibility to familial cutaneous melanoma' SubClassOf 'predisposes towards' some 'cutaneous melanoma' -+ 'susceptibility to familial cutaneous melanoma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'cutaneous melanoma') -+ 'susceptibility to familial cutaneous melanoma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'cutaneous melanoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000157 -Label(s): Central Nervous System Lymphoma -- 'Central Nervous System Lymphoma' SubClassOf 'primary organ-specific lymphoma' -+ 'Central Nervous System Lymphoma' SubClassOf 'primary organ-specific lymphoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000150 -Label(s): Cardiac Rhabdomyoma -- 'Cardiac Rhabdomyoma' SubClassOf 'rhabdomyoma' -+ 'Cardiac Rhabdomyoma' SubClassOf 'rhabdomyoma' ++ 'susceptibility to familial cutaneous melanoma' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'cutaneous melanoma' ++ 'susceptibility to familial cutaneous melanoma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'cutaneous melanoma') Class: http://purl.obolibrary.org/obo/MONDO_0001328 Label(s): thyroid hormone resistance syndrome - 'thyroid hormone resistance syndrome' SubClassOf 'disease has major feature' some 'Abnormal thyroid-stimulating hormone level' -+ 'thyroid hormone resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal thyroid-stimulating hormone level' - -Class: http://www.ebi.ac.uk/efo/EFO_1000102 -Label(s): B-Cell Prolymphocytic Leukemia -- 'B-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' -+ 'B-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0002398 -Label(s): mucinous adenofibroma -- 'mucinous adenofibroma' SubClassOf 'mucinous neoplasm' -+ 'mucinous adenofibroma' SubClassOf 'mucinous neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0002397 -Label(s): liver sarcoma -- 'liver sarcoma' SubClassOf 'liver cancer' -+ 'liver sarcoma' SubClassOf 'liver cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0100344 -Label(s): Bartter disease type 1 -- 'Bartter disease type 1' SubClassOf 'Bartter syndrome' -+ 'Bartter disease type 1' SubClassOf 'Bartter syndrome' - -Class: http://www.ebi.ac.uk/efo/EFO_0002626 -Label(s): thymus neoplasm -- 'thymus neoplasm' SubClassOf 'thymus gland disorder' -+ 'thymus neoplasm' SubClassOf 'thymus gland disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0100350 -Label(s): neuronopathy, distal hereditary motor, type 5 -- 'neuronopathy, distal hereditary motor, type 5' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' -+ 'neuronopathy, distal hereditary motor, type 5' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' - -Class: http://purl.obolibrary.org/obo/MONDO_0002404 -Label(s): liver hemangioma -- 'liver hemangioma' SubClassOf 'liver and intrahepatic bile duct neoplasm' -+ 'liver hemangioma' SubClassOf 'liver and intrahepatic bile duct neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0030543 -Label(s): combined oxidative phosphorylation deficiency 54 -- 'combined oxidative phosphorylation deficiency 54' SubClassOf 'combined oxidative phosphorylation deficiency' -+ 'combined oxidative phosphorylation deficiency 54' SubClassOf 'combined oxidative phosphorylation deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0030531 -Label(s): spermatogenic failure 65 -- 'spermatogenic failure 65' SubClassOf 'azoospermia' -+ 'spermatogenic failure 65' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0030529 -Label(s): agammaglobulinemia 10, autosomal dominant -- 'agammaglobulinemia 10, autosomal dominant' SubClassOf 'agammaglobulinemia' -+ 'agammaglobulinemia 10, autosomal dominant' SubClassOf 'agammaglobulinemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0030514 -Label(s): leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy -- 'leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy' SubClassOf 'leukodystrophy' -+ 'leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy' SubClassOf 'leukodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0030507 -Label(s): spermatogenic failure 61 -- 'spermatogenic failure 61' SubClassOf 'azoospermia' -+ 'spermatogenic failure 61' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0030500 -Label(s): Loeys-Dietz syndrome 6 -- 'Loeys-Dietz syndrome 6' SubClassOf 'Loeys-Dietz syndrome' -+ 'Loeys-Dietz syndrome 6' SubClassOf 'Loeys-Dietz syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0002307 -Label(s): blepharoconjunctivitis -- 'blepharoconjunctivitis' SubClassOf 'conjunctivitis' -+ 'blepharoconjunctivitis' SubClassOf 'conjunctivitis' - -Class: http://purl.obolibrary.org/obo/MONDO_0009517 -Label(s): Donohue syndrome -- 'Donohue syndrome' SubClassOf 'syndromic disease' -+ 'Donohue syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007990 -Label(s): multiple benign circumferential skin creases on limbs -- 'multiple benign circumferential skin creases on limbs' SubClassOf 'skin disease' -+ 'multiple benign circumferential skin creases on limbs' SubClassOf 'skin disease' ++ 'thyroid hormone resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal thyroid-stimulating hormone level' + +Class: http://purl.obolibrary.org/obo/MONDO_1030008 +Label(s): mitral valve insufficiency +- 'mitral valve insufficiency' SubClassOf 'mitral valve disease' ++ 'mitral valve insufficiency' SubClassOf 'mitral valve disease' Class: http://purl.obolibrary.org/obo/MONDO_0007966 Label(s): susceptibility to uveal melanoma - 'susceptibility to uveal melanoma' SubClassOf 'predisposes towards' some 'Uveal Melanoma' - 'susceptibility to uveal melanoma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Uveal Melanoma') -+ 'susceptibility to uveal melanoma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Uveal Melanoma') -+ 'susceptibility to uveal melanoma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Uveal Melanoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0007964 -Label(s): melanoma, cutaneous malignant, susceptibility to, 2 -- 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'susceptibility to familial cutaneous melanoma' -- 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'autosomal dominant disease' -+ 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'susceptibility to familial cutaneous melanoma' -+ 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007963 -Label(s): melanoma, cutaneous malignant, susceptibility to, 1 -- 'melanoma, cutaneous malignant, susceptibility to, 1' SubClassOf 'susceptibility to familial cutaneous melanoma' -+ 'melanoma, cutaneous malignant, susceptibility to, 1' SubClassOf 'susceptibility to familial cutaneous melanoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0007949 -Label(s): Marshall syndrome -- 'Marshall syndrome' SubClassOf 'ectodermal dysplasia syndrome' -+ 'Marshall syndrome' SubClassOf 'ectodermal dysplasia syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0013031 -Label(s): chromosome 5Q14.3 deletion syndrome, distal -- 'chromosome 5Q14.3 deletion syndrome, distal' SubClassOf 'periventricular nodular heterotopia' -+ 'chromosome 5Q14.3 deletion syndrome, distal' SubClassOf 'periventricular nodular heterotopia' - -Class: http://purl.obolibrary.org/obo/MONDO_0007934 -Label(s): benign concentric annular macular dystrophy -+ 'benign concentric annular macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040036 - -Class: http://purl.obolibrary.org/obo/MONDO_0007922 -Label(s): lymphedema-distichiasis syndrome -- 'lymphedema-distichiasis syndrome' SubClassOf 'syndromic disease' -+ 'lymphedema-distichiasis syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007916 -Label(s): primary intestinal lymphangiectasia -- 'primary intestinal lymphangiectasia' SubClassOf 'intestinal lymphangiectasia' -+ 'primary intestinal lymphangiectasia' SubClassOf 'intestinal lymphangiectasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0007915 -Label(s): systemic lupus erythematosus -- 'systemic lupus erythematosus' SubClassOf 'lupus erythematosus' -+ 'systemic lupus erythematosus' SubClassOf 'lupus erythematosus' - -Class: http://purl.obolibrary.org/obo/MONDO_0015429 -Label(s): choroideremia-hypopituitarism syndrome -- 'choroideremia-hypopituitarism syndrome' SubClassOf 'inherited retinal dystrophy' -+ 'choroideremia-hypopituitarism syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing - -Class: http://purl.obolibrary.org/obo/MONDO_0024502 -Label(s): gallbladder neuroendocrine neoplasm -- 'gallbladder neuroendocrine neoplasm' SubClassOf 'digestive system neuroendocrine neoplasm' -+ 'gallbladder neuroendocrine neoplasm' SubClassOf 'digestive system neuroendocrine neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0024503 -Label(s): digestive system neuroendocrine neoplasm -- 'digestive system neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' -+ 'digestive system neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0007906 -Label(s): familial partial lipodystrophy, Dunnigan type -- 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'familial partial lipodystrophy' -+ 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'familial partial lipodystrophy' - -Class: http://purl.obolibrary.org/obo/MONDO_0007900 -Label(s): nonsyndromic congenital nail disorder 3 -- 'nonsyndromic congenital nail disorder 3' SubClassOf 'inherited isolated nail anomaly' -+ 'nonsyndromic congenital nail disorder 3' SubClassOf 'inherited isolated nail anomaly' - -Class: http://purl.obolibrary.org/obo/MONDO_0013046 -Label(s): glycogen storage disease due to muscle beta-enolase deficiency -- 'glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'disorder of glycogen metabolism' -+ 'glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'disorder of glycogen metabolism' - -Class: http://purl.obolibrary.org/obo/MONDO_0024537 -Label(s): Brown-Vialetto-van Laere syndrome 1 -- 'Brown-Vialetto-van Laere syndrome 1' SubClassOf 'riboflavin transporter deficiency' -+ 'Brown-Vialetto-van Laere syndrome 1' SubClassOf 'riboflavin transporter deficiency' - -Class: http://www.ebi.ac.uk/efo/EFO_1000067 -Label(s): ACTH-Producing Pituitary Gland Carcinoma -- 'ACTH-Producing Pituitary Gland Carcinoma' SubClassOf 'pituitary adenocarcinoma' -+ 'ACTH-Producing Pituitary Gland Carcinoma' SubClassOf 'pituitary adenocarcinoma' - -Class: http://www.ebi.ac.uk/efo/EFO_1000065 -Label(s): Acinar Prostate Mucinous Adenocarcinoma -- 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'prostatic acinar adenocarcinoma' -+ 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'prostatic acinar adenocarcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0024561 -Label(s): vitelliform macular dystrophy 3 -+ 'vitelliform macular dystrophy 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040055 ++ 'susceptibility to uveal melanoma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Uveal Melanoma') ++ 'susceptibility to uveal melanoma' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Uveal Melanoma' Class: http://purl.obolibrary.org/obo/MONDO_0800447 Label(s): bleeding disorder, platelet-type, 13, susceptibility to - 'bleeding disorder, platelet-type, 13, susceptibility to' SubClassOf 'predisposes towards' some 'bleeding diathesis due to thromboxane synthesis deficiency' -+ 'bleeding disorder, platelet-type, 13, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'bleeding diathesis due to thromboxane synthesis deficiency' - -Class: http://www.ebi.ac.uk/efo/EFO_1000052 -Label(s): sex cord-stromal tumor -- 'sex cord-stromal tumor' SubClassOf 'reproductive system neoplasm' -+ 'sex cord-stromal tumor' SubClassOf 'reproductive system neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_1000050 -Label(s): renal leiomyoma -- 'renal leiomyoma' SubClassOf 'kidney benign neoplasm' -- 'renal leiomyoma' SubClassOf 'leiomyoma' -+ 'renal leiomyoma' SubClassOf 'kidney benign neoplasm' -+ 'renal leiomyoma' SubClassOf 'leiomyoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0100404 -Label(s): acute myeloid leukemia, MLL gene rearrangement -- 'acute myeloid leukemia, MLL gene rearrangement' SubClassOf 'acute myeloid leukemia' -+ 'acute myeloid leukemia, MLL gene rearrangement' SubClassOf 'acute myeloid leukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0012986 -Label(s): bilateral parasagittal parieto-occipital polymicrogyria -- 'bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'bilateral polymicrogyria' -+ 'bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'bilateral polymicrogyria' - -Class: http://www.ebi.ac.uk/efo/EFO_1000028 -Label(s): ependymoma -- 'ependymoma' SubClassOf 'ependymal neoplasm' -+ 'ependymoma' SubClassOf 'ependymal neoplasm' - -Class: http://www.ebi.ac.uk/efo/EFO_1000027 -Label(s): ependymal neoplasm -- 'ependymal neoplasm' SubClassOf 'glioma' -+ 'ependymal neoplasm' SubClassOf 'glioma' - -Class: http://purl.obolibrary.org/obo/MONDO_0100413 -Label(s): acute myeloid leukemia, biallelic CEBPA gene mutation -- 'acute myeloid leukemia, biallelic CEBPA gene mutation' SubClassOf 'acute myeloid leukemia' -+ 'acute myeloid leukemia, biallelic CEBPA gene mutation' SubClassOf 'acute myeloid leukemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0030492 -Label(s): spermatogenic failure 59 -- 'spermatogenic failure 59' SubClassOf 'azoospermia' -+ 'spermatogenic failure 59' SubClassOf 'azoospermia' ++ 'bleeding disorder, platelet-type, 13, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'bleeding diathesis due to thromboxane synthesis deficiency' + +Class: http://www.ebi.ac.uk/efo/EFO_1000032 +Label(s): granulosa cell tumor +- 'granulosa cell tumor' EquivalentTo 'neoplasm' and ('disease has location' some 'granulosa cell') +- 'granulosa cell tumor' SubClassOf 'disease has location' some 'granulosa cell' Class: http://www.ebi.ac.uk/efo/EFO_1000014 Label(s): acidosis - 'acidosis' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Acidosis') - 'acidosis' SubClassOf 'disease has major feature' some 'Acidosis' -+ 'acidosis' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Acidosis') -+ 'acidosis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Acidosis' - -Class: http://www.ebi.ac.uk/efo/EFO_1000012 -Label(s): Rienhoff syndrome -- 'Rienhoff syndrome' SubClassOf 'Loeys-Dietz syndrome' -+ 'Rienhoff syndrome' SubClassOf 'Loeys-Dietz syndrome' ++ 'acidosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Acidosis' ++ 'acidosis' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Acidosis') Class: http://purl.obolibrary.org/obo/MONDO_0001437 Label(s): pulmonary alveolar proteinosis - 'pulmonary alveolar proteinosis' SubClassOf 'disease has major feature' some 'Intraalveolar phospholipid accumulation' -+ 'pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Intraalveolar phospholipid accumulation' - -Class: http://purl.obolibrary.org/obo/MONDO_0100431 -Label(s): migraine without aura -- 'migraine without aura' SubClassOf 'migraine disorder' -+ 'migraine without aura' SubClassOf 'migraine disorder' ++ 'pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Intraalveolar phospholipid accumulation' Class: http://purl.obolibrary.org/obo/MONDO_0030473 Label(s): developmental and epileptic encephalopathy 99 -- 'developmental and epileptic encephalopathy 99' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy 99' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0030472 -Label(s): developmental and epileptic encephalopathy 98 -- 'developmental and epileptic encephalopathy 98' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy 98' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0016030 -Label(s): Evans syndrome -- 'Evans syndrome' SubClassOf 'Anemia, Hemolytic, Autoimmune' -+ 'Evans syndrome' SubClassOf 'Anemia, Hemolytic, Autoimmune' ++ 'developmental and epileptic encephalopathy 99' SubClassOf 'ATP1A3-associated neurological disorder' Class: http://purl.obolibrary.org/obo/MONDO_0012953 Label(s): colorectal cancer, susceptibility to, 10 - 'colorectal cancer, susceptibility to, 10' SubClassOf 'predisposes towards' some 'colorectal cancer' -+ 'colorectal cancer, susceptibility to, 10' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'colorectal cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0030463 -Label(s): spermatogenic failure 58 -- 'spermatogenic failure 58' SubClassOf 'azoospermia' -+ 'spermatogenic failure 58' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0030453 -Label(s): developmental and epileptic encephalopathy 97 -- 'developmental and epileptic encephalopathy 97' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy 97' SubClassOf 'developmental and epileptic encephalopathy' ++ 'colorectal cancer, susceptibility to, 10' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer' Class: http://purl.obolibrary.org/obo/MONDO_0012933 Label(s): breast-ovarian cancer, familial, susceptibility to, 2 - 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome' -+ 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'hereditary breast ovarian cancer syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0012930 -Label(s): autosomal recessive severe congenital neutropenia due to G6PC3 deficiency -- 'autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'autosomal recessive severe congenital neutropenia' -+ 'autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'autosomal recessive severe congenital neutropenia' - -Class: http://purl.obolibrary.org/obo/MONDO_0002270 -Label(s): viral gastritis -- 'viral gastritis' SubClassOf 'viral disease' -+ 'viral gastritis' SubClassOf 'viral disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012927 -Label(s): chromosome 1q41-q42 deletion syndrome -- 'chromosome 1q41-q42 deletion syndrome' SubClassOf 'holoprosencephaly' -+ 'chromosome 1q41-q42 deletion syndrome' SubClassOf 'holoprosencephaly' ++ 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hereditary breast ovarian cancer syndrome' Class: http://purl.obolibrary.org/obo/MONDO_0030434 Label(s): epilepsy, idiopathic generalized, susceptibility to, 18 - 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf 'predisposes towards' some 'generalised epilepsy' -+ 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'generalised epilepsy' ++ 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy' -Class: http://purl.obolibrary.org/obo/MONDO_0030430 -Label(s): spermatogenic failure 56 -- 'spermatogenic failure 56' SubClassOf 'azoospermia' -+ 'spermatogenic failure 56' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0002492 -Label(s): acute kidney failure -- 'acute kidney failure' SubClassOf 'kidney failure' -+ 'acute kidney failure' SubClassOf 'kidney failure' +Class: http://purl.obolibrary.org/obo/HP_0006467 +Label(s): Limited shoulder movement +- 'Limited shoulder movement' SubClassOf 'Abnormality of the skeletal system' ++ 'Limited shoulder movement' SubClassOf 'Phenotypic abnormality' Class: http://purl.obolibrary.org/obo/MONDO_0018307 Label(s): neurodegeneration with brain iron accumulation - 'neurodegeneration with brain iron accumulation' SubClassOf 'disease has major feature' some 'dementia' -+ 'neurodegeneration with brain iron accumulation' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014611 -Label(s): multiple mitochondrial dysfunctions syndrome 4 -- 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' -+ 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0019588 -Label(s): hearing loss, autosomal recessive -- 'hearing loss, autosomal recessive' SubClassOf 'prelingual non-syndromic genetic hearing loss' -- 'hearing loss, autosomal recessive' SubClassOf 'autosomal recessive disease' -- 'hearing loss, autosomal recessive' SubClassOf 'postlingual non-syndromic genetic hearing loss' -+ 'hearing loss, autosomal recessive' SubClassOf 'autosomal recessive disease' -+ 'hearing loss, autosomal recessive' SubClassOf 'nonsyndromic genetic hearing loss' - -Class: http://purl.obolibrary.org/obo/MONDO_0007878 -Label(s): congenital laryngomalacia -- 'congenital laryngomalacia' SubClassOf 'laryngeal disease' -+ 'congenital laryngomalacia' SubClassOf 'laryngeal disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0014639 -Label(s): familial temporal lobe epilepsy 7 -- 'familial temporal lobe epilepsy 7' SubClassOf 'temporal lobe epilepsy' -+ 'familial temporal lobe epilepsy 7' SubClassOf 'temporal lobe epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0007862 -Label(s): Waardenburg syndrome type 3 -- 'Waardenburg syndrome type 3' SubClassOf 'Waardenburg syndrome' -+ 'Waardenburg syndrome type 3' SubClassOf 'Waardenburg syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0007818 -Label(s): hyper-IgE recurrent infection syndrome 1, autosomal dominant -- 'hyper-IgE recurrent infection syndrome 1, autosomal dominant' SubClassOf 'autosomal dominant disease' -- 'hyper-IgE recurrent infection syndrome 1, autosomal dominant' SubClassOf 'hyper-IgE syndrome' -+ 'hyper-IgE recurrent infection syndrome 1, autosomal dominant' SubClassOf 'autosomal dominant disease' -+ 'hyper-IgE recurrent infection syndrome 1, autosomal dominant' SubClassOf 'hyper-IgE syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0007813 -Label(s): superficial epidermolytic ichthyosis -- 'superficial epidermolytic ichthyosis' SubClassOf 'keratinopathic ichthyosis' -+ 'superficial epidermolytic ichthyosis' SubClassOf 'keratinopathic ichthyosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0007804 -Label(s): Pallister-Hall syndrome -- 'Pallister-Hall syndrome' SubClassOf 'syndromic disease' -+ 'Pallister-Hall syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0007548 -Label(s): transient bullous dermolysis of the newborn -- 'transient bullous dermolysis of the newborn' SubClassOf 'epidermolysis bullosa dystrophica' -+ 'transient bullous dermolysis of the newborn' SubClassOf 'epidermolysis bullosa dystrophica' - -Class: http://purl.obolibrary.org/obo/MONDO_0024622 -Label(s): thyroid gland adenocarcinoma -- 'thyroid gland adenocarcinoma' SubClassOf 'thyroid carcinoma' -- 'thyroid gland adenocarcinoma' SubClassOf 'adenocarcinoma' -+ 'thyroid gland adenocarcinoma' SubClassOf 'thyroid carcinoma' -+ 'thyroid gland adenocarcinoma' SubClassOf 'adenocarcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0024647 -Label(s): urolithiasis -- 'urolithiasis' SubClassOf 'urinary system disease' -+ 'urolithiasis' SubClassOf 'urinary system disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0010998 -Label(s): ALG3-congenital disorder of glycosylation -- 'ALG3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'ALG3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0024666 -Label(s): benign epithelial skin neoplasm -- 'benign epithelial skin neoplasm' SubClassOf 'benign epithelial neoplasm' -+ 'benign epithelial skin neoplasm' SubClassOf 'benign epithelial neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0003001 -Label(s): seminoma -- 'seminoma' SubClassOf 'germinomatous germ cell tumor' -+ 'seminoma' SubClassOf 'germinomatous germ cell tumor' ++ 'neurodegeneration with brain iron accumulation' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia' Class: http://purl.obolibrary.org/obo/MONDO_0012893 Label(s): osteoarthritis susceptibility 5 - 'osteoarthritis susceptibility 5' SubClassOf 'predisposes towards' some 'osteoarthritis' -+ 'osteoarthritis susceptibility 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'osteoarthritis' - -Class: http://purl.obolibrary.org/obo/MONDO_0001507 -Label(s): viral labyrinthitis -- 'viral labyrinthitis' SubClassOf 'viral disease' -+ 'viral labyrinthitis' SubClassOf 'viral disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012885 -Label(s): SRD5A3-congenital disorder of glycosylation -- 'SRD5A3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'SRD5A3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' - -Class: http://purl.obolibrary.org/obo/MONDO_0100512 -Label(s): mitochondrial DNA depletion syndrome, hepatocerebral form -- 'mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'mitochondrial DNA depletion syndrome' -+ 'mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'mitochondrial DNA depletion syndrome' ++ 'osteoarthritis susceptibility 5' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'osteoarthritis' Class: http://purl.obolibrary.org/obo/MONDO_0100519 Label(s): epilepsy, idiopathic generalized, susceptibility to, 17 - 'epilepsy, idiopathic generalized, susceptibility to, 17' SubClassOf 'predisposes towards' some 'generalised epilepsy' -+ 'epilepsy, idiopathic generalized, susceptibility to, 17' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'generalised epilepsy' - -Class: http://purl.obolibrary.org/obo/MONDO_0012868 -Label(s): thrombophilia due to protein S deficiency, autosomal dominant -- 'thrombophilia due to protein S deficiency, autosomal dominant' SubClassOf 'autosomal dominant disease' -+ 'thrombophilia due to protein S deficiency, autosomal dominant' SubClassOf 'autosomal dominant disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012864 -Label(s): chromosome 2q32-q33 deletion syndrome -- 'chromosome 2q32-q33 deletion syndrome' SubClassOf 'SATB2 associated disorder' -+ 'chromosome 2q32-q33 deletion syndrome' SubClassOf 'SATB2 associated disorder' - -Class: http://purl.obolibrary.org/obo/MONDO_0001538 -Label(s): retinal ischemia -- 'retinal ischemia' SubClassOf 'ischemic disease' -+ 'retinal ischemia' SubClassOf 'ischemic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012859 -Label(s): autosomal recessive osteopetrosis 7 -- 'autosomal recessive osteopetrosis 7' SubClassOf 'autosomal recessive osteopetrosis' -+ 'autosomal recessive osteopetrosis 7' SubClassOf 'autosomal recessive osteopetrosis' ++ 'epilepsy, idiopathic generalized, susceptibility to, 17' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy' Class: http://purl.obolibrary.org/obo/MONDO_0100555 Label(s): IgA nephropathy, susceptibility to - 'IgA nephropathy, susceptibility to' SubClassOf 'predisposes towards' some 'IGA glomerulonephritis' - 'IgA nephropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'IGA glomerulonephritis') -+ 'IgA nephropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'IGA glomerulonephritis') -+ 'IgA nephropathy, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'IGA glomerulonephritis' - -Class: http://purl.obolibrary.org/obo/MONDO_0030355 -Label(s): facioscapulohumeral muscular dystrophy 4, digenic -- 'facioscapulohumeral muscular dystrophy 4, digenic' SubClassOf 'facioscapulohumeral muscular dystrophy' -+ 'facioscapulohumeral muscular dystrophy 4, digenic' SubClassOf 'facioscapulohumeral muscular dystrophy' ++ 'IgA nephropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'IGA glomerulonephritis') ++ 'IgA nephropathy, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'IGA glomerulonephritis' Class: http://purl.obolibrary.org/obo/MONDO_0001566 Label(s): hypercalcemia disease - 'hypercalcemia disease' SubClassOf 'disease has major feature' some 'Hypercalcemia' -+ 'hypercalcemia disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hypercalcemia' ++ 'hypercalcemia disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypercalcemia' Class: http://purl.obolibrary.org/obo/MONDO_0012820 Label(s): colorectal cancer, susceptibility to, 3 - 'colorectal cancer, susceptibility to, 3' SubClassOf 'predisposes towards' some 'colorectal cancer' -+ 'colorectal cancer, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'colorectal cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0002167 -Label(s): rectum malignant melanoma -- 'rectum malignant melanoma' SubClassOf 'digestive system melanoma' -+ 'rectum malignant melanoma' SubClassOf 'digestive system melanoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0002162 -Label(s): fallopian tube adenosarcoma -- 'fallopian tube adenosarcoma' SubClassOf 'fallopian tube cancer' -+ 'fallopian tube adenosarcoma' SubClassOf 'fallopian tube cancer' - -Class: http://purl.obolibrary.org/obo/MONDO_0012812 -Label(s): developmental and epileptic encephalopathy, 4 -- 'developmental and epileptic encephalopathy, 4' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 4' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0001586 -Label(s): mucopolysaccharidosis type 1 -- 'mucopolysaccharidosis type 1' SubClassOf 'mucopolysaccharidosis' -+ 'mucopolysaccharidosis type 1' SubClassOf 'mucopolysaccharidosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0002159 -Label(s): fallopian tube leiomyosarcoma -- 'fallopian tube leiomyosarcoma' SubClassOf 'leiomyosarcoma' -+ 'fallopian tube leiomyosarcoma' SubClassOf 'leiomyosarcoma' ++ 'colorectal cancer, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer' Class: http://purl.obolibrary.org/obo/MONDO_0958238 Label(s): hyperemesis gravidarum, susceptibility to - 'hyperemesis gravidarum, susceptibility to' SubClassOf 'predisposes towards' some 'hyperemesis gravidarum' -+ 'hyperemesis gravidarum, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'hyperemesis gravidarum' - -Class: http://purl.obolibrary.org/obo/MONDO_0012808 -Label(s): dilated cardiomyopathy 1AA -- 'dilated cardiomyopathy 1AA' SubClassOf 'familial dilated cardiomyopathy' -+ 'dilated cardiomyopathy 1AA' SubClassOf 'familial dilated cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0012807 -Label(s): epidermolysis bullosa simplex 5C, with pyloric atresia -- 'epidermolysis bullosa simplex 5C, with pyloric atresia' SubClassOf 'epidermolysis bullosa simplex' -+ 'epidermolysis bullosa simplex 5C, with pyloric atresia' SubClassOf 'epidermolysis bullosa simplex' - -Class: http://purl.obolibrary.org/obo/MONDO_0030318 -Label(s): spinocerebellar ataxia, autosomal recessive 30 -- 'spinocerebellar ataxia, autosomal recessive 30' SubClassOf 'autosomal recessive cerebellar ataxia' -+ 'spinocerebellar ataxia, autosomal recessive 30' SubClassOf 'autosomal recessive cerebellar ataxia' - -Class: http://purl.obolibrary.org/obo/MONDO_0030307 -Label(s): spermatogenic failure 55 -- 'spermatogenic failure 55' SubClassOf 'azoospermia' -+ 'spermatogenic failure 55' SubClassOf 'azoospermia' - -Class: http://purl.obolibrary.org/obo/MONDO_0010408 -Label(s): syndactyly-telecanthus-anogenital and renal malformations syndrome -- 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'syndromic disease' -+ 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'syndromic disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0013989 -Label(s): developmental and epileptic encephalopathy, 14 -- 'developmental and epileptic encephalopathy, 14' SubClassOf 'developmental and epileptic encephalopathy' -+ 'developmental and epileptic encephalopathy, 14' SubClassOf 'developmental and epileptic encephalopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0019648 -Label(s): achondrogenesis -- 'achondrogenesis' SubClassOf 'spondylodysplastic dysplasia' -+ 'achondrogenesis' SubClassOf 'spondylodysplastic dysplasia' - -Class: http://purl.obolibrary.org/obo/MONDO_0002113 -Label(s): peritoneal carcinoma -- 'peritoneal carcinoma' SubClassOf 'peritoneum cancer' -+ 'peritoneal carcinoma' SubClassOf 'peritoneum cancer' -+ 'peritoneal carcinoma' SubClassOf 'carcinoma' - -Class: http://purl.obolibrary.org/obo/MONDO_0002112 -Label(s): benign peritoneal mesothelioma -- 'benign peritoneal mesothelioma' SubClassOf 'peritoneal benign neoplasm' -+ 'benign peritoneal mesothelioma' SubClassOf 'peritoneal benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0002101 -Label(s): facial nerve neoplasm -- 'facial nerve neoplasm' SubClassOf 'facial nerve disease' -+ 'facial nerve neoplasm' SubClassOf 'facial nerve disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0012806 -Label(s): ectodermal dysplasia and immunodeficiency 2 -- 'ectodermal dysplasia and immunodeficiency 2' SubClassOf 'ectodermal dysplasia and immune deficiency' -+ 'ectodermal dysplasia and immunodeficiency 2' SubClassOf 'ectodermal dysplasia and immune deficiency' - -Class: http://purl.obolibrary.org/obo/MONDO_0007784 -Label(s): selective pituitary resistance to thyroid hormone -- 'selective pituitary resistance to thyroid hormone' SubClassOf 'hyperthyroidism' -+ 'selective pituitary resistance to thyroid hormone' SubClassOf 'hyperthyroidism' - -Class: http://purl.obolibrary.org/obo/MONDO_0019681 -Label(s): juvenile sialidosis type 2 -- 'juvenile sialidosis type 2' SubClassOf 'sialidosis type 2' -+ 'juvenile sialidosis type 2' SubClassOf 'sialidosis type 2' - -Class: http://purl.obolibrary.org/obo/MONDO_0007772 -Label(s): pseudohypoaldosteronism type 2A -- 'pseudohypoaldosteronism type 2A' SubClassOf 'pseudohypoaldosteronism type 2' -+ 'pseudohypoaldosteronism type 2A' SubClassOf 'pseudohypoaldosteronism type 2' - -Class: http://purl.obolibrary.org/obo/MONDO_0014006 -Label(s): Schuurs-Hoeijmakers syndrome -- 'Schuurs-Hoeijmakers syndrome' SubClassOf 'intellectual disability, autosomal dominant' -+ 'Schuurs-Hoeijmakers syndrome' SubClassOf 'intellectual disability, autosomal dominant' - -Class: http://purl.obolibrary.org/obo/MONDO_0007764 -Label(s): autosomal dominant osteosclerosis, Worth type -- 'autosomal dominant osteosclerosis, Worth type' SubClassOf 'hyperostosis' -+ 'autosomal dominant osteosclerosis, Worth type' SubClassOf 'hyperostosis' - -Class: http://purl.obolibrary.org/obo/MONDO_0007758 -Label(s): epidermolytic palmoplantar keratoderma, 1 -- 'epidermolytic palmoplantar keratoderma, 1' SubClassOf 'palmoplantar keratoderma, epidermolytic' -+ 'epidermolytic palmoplantar keratoderma, 1' SubClassOf 'palmoplantar keratoderma, epidermolytic' - -Class: http://purl.obolibrary.org/obo/MONDO_0007751 -Label(s): hypercholesterolemia, autosomal dominant, type B -- 'hypercholesterolemia, autosomal dominant, type B' SubClassOf 'familial hypercholesterolemia' -+ 'hypercholesterolemia, autosomal dominant, type B' SubClassOf 'familial hypercholesterolemia' - -Class: http://purl.obolibrary.org/obo/MONDO_0014021 -Label(s): familial episodic pain syndrome with predominantly upper body involvement -- 'familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'familial episodic pain syndrome' -+ 'familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'familial episodic pain syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0014039 -Label(s): mitochondrial DNA depletion syndrome 11 -- 'mitochondrial DNA depletion syndrome 11' SubClassOf 'mitochondrial DNA depletion syndrome' -+ 'mitochondrial DNA depletion syndrome 11' SubClassOf 'mitochondrial DNA depletion syndrome' - -Class: http://purl.obolibrary.org/obo/MONDO_0000648 -Label(s): nervous system benign neoplasm -- 'nervous system benign neoplasm' SubClassOf 'benign neoplasm' -+ 'nervous system benign neoplasm' SubClassOf 'benign neoplasm' - -Class: http://purl.obolibrary.org/obo/MONDO_0009655 -Label(s): mucopolysaccharidosis type 3A -- 'mucopolysaccharidosis type 3A' SubClassOf 'mucopolysaccharidosis type 3' -+ 'mucopolysaccharidosis type 3A' SubClassOf 'mucopolysaccharidosis type 3' - -Class: http://purl.obolibrary.org/obo/MONDO_0009656 -Label(s): mucopolysaccharidosis type 3B -- 'mucopolysaccharidosis type 3B' SubClassOf 'mucopolysaccharidosis type 3' -+ 'mucopolysaccharidosis type 3B' SubClassOf 'mucopolysaccharidosis type 3' - -Class: http://purl.obolibrary.org/obo/MONDO_0008031 -Label(s): facioscapulohumeral muscular dystrophy 2 -- 'facioscapulohumeral muscular dystrophy 2' SubClassOf 'facioscapulohumeral muscular dystrophy' -+ 'facioscapulohumeral muscular dystrophy 2' SubClassOf 'facioscapulohumeral muscular dystrophy' ++ 'hyperemesis gravidarum, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hyperemesis gravidarum' + +Class: http://purl.obolibrary.org/obo/HP_0002653 +Label(s): Bone pain +- 'Bone pain' SubClassOf 'Abnormality of the skeletal system' Class: http://purl.obolibrary.org/obo/MONDO_0007704 Label(s): osteoarthritis susceptibility 2 - 'osteoarthritis susceptibility 2' SubClassOf 'predisposes towards' some 'osteoarthritis' -+ 'osteoarthritis susceptibility 2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'osteoarthritis' - -Class: http://purl.obolibrary.org/obo/MONDO_0024772 -Label(s): intellectual developmental disorder, X-linked, syndromic, Pilorge type -- 'intellectual developmental disorder, X-linked, syndromic, Pilorge type' SubClassOf 'X-linked syndromic intellectual disability' -+ 'intellectual developmental disorder, X-linked, syndromic, Pilorge type' SubClassOf 'X-linked syndromic intellectual disability' - -Class: http://purl.obolibrary.org/obo/MONDO_0004009 -Label(s): kidney pelvis sarcomatoid transitional cell carcinoma -- 'kidney pelvis sarcomatoid transitional cell carcinoma' SubClassOf 'transitional cell carcinoma of kidney' -+ 'kidney pelvis sarcomatoid transitional cell carcinoma' SubClassOf 'transitional cell carcinoma of kidney' - -Class: http://purl.obolibrary.org/obo/MONDO_0012799 -Label(s): hypertrophic cardiomyopathy 11 -- 'hypertrophic cardiomyopathy 11' SubClassOf 'familial hypertrophic cardiomyopathy' -+ 'hypertrophic cardiomyopathy 11' SubClassOf 'familial hypertrophic cardiomyopathy' - -Class: http://purl.obolibrary.org/obo/MONDO_0012794 -Label(s): ANE syndrome -- 'ANE syndrome' SubClassOf 'syndromic disease' -+ 'ANE syndrome' SubClassOf 'syndromic disease' ++ 'osteoarthritis susceptibility 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'osteoarthritis' Class: http://purl.obolibrary.org/obo/MONDO_0012843 Label(s): epilepsy, childhood absence, susceptibility to, 5 - 'epilepsy, childhood absence, susceptibility to, 5' SubClassOf 'predisposes towards' some 'childhood absence epilepsy' -+ 'epilepsy, childhood absence, susceptibility to, 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'childhood absence epilepsy' - -Class: http://purl.obolibrary.org/obo/GO_0006772 -Label(s): thiamine metabolic process -- 'thiamine metabolic process' SubClassOf 'organonitrogen compound metabolic process' ++ 'epilepsy, childhood absence, susceptibility to, 5' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'childhood absence epilepsy' -Class: http://purl.obolibrary.org/obo/MONDO_0012783 -Label(s): RFT1-congenital disorder of glycosylation -- 'RFT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' -+ 'RFT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' ---------------------------------- @@ -14663,44 +2397,30 @@ Label(s): RFT1-congenital disorder of glycosylation @Classes deleted from this version -Class: http://purl.obolibrary.org/obo/MONDO_0004587 -Label(s): hereditary night blindness -+ 'hereditary night blindness' SubClassOf 'night blindness' -+ 'hereditary night blindness' SubClassOf 'hereditary neurological disease' - -Class: http://purl.obolibrary.org/obo/MONDO_0021136 -Label(s): rare -+ 'rare' SubClassOf 'rare or common' - -Class: http://purl.obolibrary.org/obo/MONDO_0021135 -Label(s): rare or common -+ 'rare or common' SubClassOf 'disease characteristic' - -Class: http://purl.obolibrary.org/obo/MONDO_0013498 -Label(s): schizophrenia 15 -+ 'schizophrenia 15' SubClassOf 'schizophrenia' -+ 'schizophrenia 15' SubClassOf 'hereditary neurological disease' +Class: http://purl.obolibrary.org/obo/MONDO_0700249 +Label(s): epidermolytic hyperkeratosis 1 ++ 'epidermolytic hyperkeratosis 1' SubClassOf 'epidermolytic ichthyosis' -Class: http://purl.obolibrary.org/obo/MONDO_0000866 -Label(s): hereditary myoglobinuria -+ 'hereditary myoglobinuria' SubClassOf 'myopathy' +Class: http://purl.obolibrary.org/obo/MONDO_0100029 +Label(s): antibody mediated epilepsy ++ 'antibody mediated epilepsy' SubClassOf 'immune epilepsy' -Class: http://purl.obolibrary.org/obo/MONDO_0000424 -Label(s): inborn vitamin B12 deficiency -+ 'inborn vitamin B12 deficiency' SubClassOf 'vitamin metabolic disorder' -+ 'inborn vitamin B12 deficiency' SubClassOf 'vitamin B12 deficiency' +Class: http://purl.obolibrary.org/obo/MONDO_0100028 +Label(s): immune epilepsy ++ 'immune epilepsy' SubClassOf 'epilepsy' -Class: http://purl.obolibrary.org/obo/MONDO_0021137 -Label(s): not rare -+ 'not rare' SubClassOf 'rare or common' +Class: http://purl.obolibrary.org/obo/MONDO_0000169 +Label(s): microphthalmia, isolated, with cataract ++ 'microphthalmia, isolated, with cataract' SubClassOf 'isolated microphthalmia' -Class: http://purl.obolibrary.org/obo/MONDO_0011292 -Label(s): dermatitis, atopic -+ 'dermatitis, atopic' SubClassOf 'atopic eczema' +Class: http://purl.obolibrary.org/obo/MONDO_0020727 +Label(s): combined oxidative phosphorylation deficiency 22 ++ 'combined oxidative phosphorylation deficiency 22' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' -Class: http://purl.obolibrary.org/obo/MONDO_0006788 -Label(s): obsolete hydrophthalmos -+ 'obsolete hydrophthalmos' SubClassOf http://www.w3.org/2002/07/owl#Thing +Class: http://purl.obolibrary.org/obo/MONDO_0020627 +Label(s): epileptic encephalopathy, infantile or early childhood ++ 'epileptic encephalopathy, infantile or early childhood' SubClassOf 'hereditary neurological disease' ++ 'epileptic encephalopathy, infantile or early childhood' SubClassOf 'epilepsy syndrome' ---------------------------------- 4. Scope of the Ontology diff --git a/efo-base.owl b/efo-base.owl index 8c3ef001..9e5c1585 100644 --- a/efo-base.owl +++ b/efo-base.owl @@ -27,7 +27,7 @@ xmlns:patterns="http://www.co-ode.org/patterns#" xmlns:ncbitaxon="http://purl.obolibrary.org/obo/ncbitaxon#"> - + 1.4 Catherine Leroy Dani Welter @@ -52,8 +52,8 @@ Licensed under the Apache License, Version 2.0 (the "License"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an "AS IS" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. www.apache.org/licenses/LICENSE-2.0 - 2024-12-13 - 3.72.0 + 2024-12-16 + 3.73.0 diff --git a/src/ontology/reports/basic-report.tsv b/src/ontology/reports/basic-report.tsv index edf26e59..4c3a1523 100644 --- a/src/ontology/reports/basic-report.tsv +++ b/src/ontology/reports/basic-report.tsv @@ -403,7 +403,7 @@ "A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis." "MEDGEN:1784590 UMLS:C5543375 OMIM:619321" - "A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas." "NCIT:C40130 MEDGEN:274487 DOID:5324 UMLS:C1517114" + "A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas." "NCIT:C40130 MEDGEN:274487 UMLS:C1517114 DOID:5324" "immortal human lung-derived cell line" "CLO:0037033 RRID:CVCL_5160" "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. [ NCI ]" "ICD10:E05 MEDGEN:6972 DOID:7998 NCIT:C3123 MESH:D006980 HP:0000836 UMLS:C0020550 SCTID:34486009 MedDRA:10020850 MONDO:0004425 NCIt:C3123 ICD9:242.90 NANDO:2100119 NANDO:2200329" "UMLS:CN201472 ICD10:Q87.3 Orphanet:231127" @@ -690,7 +690,7 @@ "Conceptual functions or thinking in all its forms." "NCIt:C16840 MeSH:D008606" "ICD10:G90.8" "quantification of an individual's susceptibility to childhood ear infections, generally as a count of number of infections suffered or a binary scale of presence or absence of childhood ear infections" - "A female germ cell that has entered meiosis." "WBbt:0006797 MESH:D009865 ZFA:0001109 ZFA:0009008 FMA:18644 FBbt:00004886 BTO:0000964 SNOMEDCT:86082002 CALOHA:TS-0711 NCIt:C12598" + "A female germ cell that has entered meiosis." "WBbt:0006797 MESH:D009865 ZFA:0009008 ZFA:0001109 FMA:18644 FBbt:00004886 BTO:0000964 SNOMEDCT:86082002 CALOHA:TS-0711 NCIt:C12598" "Quantification of thrombospondin type-1 domain-containing protein 7A in a sample." "PMID:29875488" "The result of a measurement of circulating Mumps virus-specific antibodies" "PMID:30053915" "NCIT:C179867 MEDGEN:411324 OMIM:400045 UMLS:C2748895 DOID:0111761" @@ -741,7 +741,7 @@ "The determination of the amount of fibroblast growth factor 18 in a sample" "PMID:28240269" "Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." "OMIM:607748" - "The invaginated serous membrane that surrounds the lungs (the visceral portion) and lines the walls of the pleural cavity (parietal portion)." "BTO:0001791 CALOHA:TS-2081 MESH:D010994 SCTID:181609007 FMA:9583 Wikipedia:Pleura UMLS:C0032225 VHOG:0000394 GAID:360 EFO:0001980 MA:0000433 NCIT:C12469 EV:0100044" + "The invaginated serous membrane that surrounds the lungs (the visceral portion) and lines the walls of the pleural cavity (parietal portion)." "BTO:0001791 CALOHA:TS-2081 MESH:D010994 SCTID:181609007 Wikipedia:Pleura FMA:9583 UMLS:C0032225 VHOG:0000394 GAID:360 EFO:0001980 MA:0000433 NCIT:C12469 EV:0100044" "An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders." "MedDRA:10034052 GARD:7339 MESH:D015868 MeSH:D015868 SCTID:314428001 MEDGEN:14623 UMLS:C0030593 OMIM:606177 NCIT:C34903 MONDO:0011644 SNOMEDCT:45688009 DOID:12731 icd11.foundation:127977237 ICD9:363.21 NCIt:C34903" "Ceratobranchial 5 tooth which is posterior to tooth 2V and anterior to tooth 4V in the ventral tooth row." "ZFA:0001145" "Quantification of interleukin-16 in a sample." "PMID:29875488" @@ -977,7 +977,7 @@ "Quantification of the amount of 11beta-hydroxyandrosterone glucuronide in a sample." "PMID:35347128" "A neoplasm (disease) that involves the ear." "UMLS:C0013449 MEDGEN:4431 NCIT:C3000" "SNOMEDCT:22937005 MeSH:D047010" - "A thienopyridine that is 4,5,6,7-tetrahydrothieno[3,2-c]pyridine in which the hydrogen attached to the nitrogen is replaced by an o-chlorobenzyl group." "Patent:US4127580 SNOMEDCT:386950000 Patent:DE2404308 DrugBank:DB00208 ChemIDplus:55142-85-3 CAS:55142-85-3 PMID:19180126 KEGG:D08594 KEGG:C07140 NCIt:C61972 Drug_Central:2657 KEGG COMPOUND:C07140 MeSH:D013988 Patent:US4051141 Wikipedia:Ticlopidine SNOMEDCT:108971003 Reaxys:1216802 LINCS:LSM-1986" + "A thienopyridine that is 4,5,6,7-tetrahydrothieno[3,2-c]pyridine in which the hydrogen attached to the nitrogen is replaced by an o-chlorobenzyl group." "Patent:US4127580 SNOMEDCT:386950000 Patent:DE2404308 DrugBank:DB00208 ChemIDplus:55142-85-3 CAS:55142-85-3 PMID:19180126 KEGG:D08594 KEGG:C07140 NCIt:C61972 Drug_Central:2657 KEGG COMPOUND:C07140 MeSH:D013988 Patent:US4051141 SNOMEDCT:108971003 Reaxys:1216802 Wikipedia:Ticlopidine LINCS:LSM-1986" "The amount of a large ribosomal subunit protein uL2m when measured in blood serum." "Quantification of the amount of X-17685 in a sample." "PMID:35347128" "The amount of a S-arrestin when measured in blood serum." @@ -1007,7 +1007,7 @@ "Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain." "NCIt:C73425 Wikipedia:Sleep MeSH:D012890 SNOMEDCT:258158006" "A break in one or both bones that comprise the jaw. [ NCI ]" "MedDRA:10023149 MESH:D007572 MONDO:0100075 NCIt:C26803" - "Human SUM1315- metastatic/invasive breast ductal carcinoma cell line" "CLO:0009916 RRID:CVCL_5589" + "Human SUM1315- metastatic/invasive breast ductal carcinoma cell line" "RRID:CVCL_5589 CLO:0009916" "The amount of a steroid hormone receptor ERR1 when measured in blood serum." "Quantification of dystroglycan in a sample." "PMID:29875488" "The amount of a complex I intermediate-associated protein 30, mitochondrial when measured in blood serum." @@ -1382,7 +1382,7 @@ "The amount of a BAG family molecular chaperone regulator 4 when measured in blood serum." "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)" "MONDO:0017638 Orphanet:306682 MedDRA:10058951 GARD:21264 SCTID:88687001 ICD9:503 ORDO:Orphanet_306682 MESH:D020149 MeSH:D020149" "The amount of a zinc finger and BTB domain-containing protein 10 when measured in blood serum." - "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma." "DOID:3218 NCIT:C8401 MEDGEN:7187 UMLS:C0022374 SCTID:126834003 MESH:D007580" + "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma." "DOID:3218 NCIT:C8401 MEDGEN:7187 UMLS:C0022374 MESH:D007580 SCTID:126834003" "An IgG memory B cell is a class switched memory B cell that is class switched and expresses IgG on the cell surface." "The smooth stratified squamous epithelium that covers the outer surface of the cornea." "EFO:0001917 FMA:58263 ZFA:0001683 TAO:0002187 UMLS:C0459875 MESH:D019573 GAID:895 SCTID:368825001 EMAPA:17162 Wikipedia:Corneal_epithelium BTO:0000287 NCIT:C12928 MA:0001243 CALOHA:TS-0173 EHDAA2:0000319" "Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency." "NANDO:2200441 Orphanet:404553 UMLS:C3887654 MEDGEN:854497 OMIM:615688 GARD:12383 NANDO:2200450 NANDO:1200995" @@ -4655,7 +4655,7 @@ "The amount of a cone-rod homeobox protein when measured in blood." "PMID:37794183" "DOID:0050758 UMLS:C0220981 MEDGEN:65117 SCTID:59455009" "A cell line derived from a lymphatic system plasma cell neoplasm." - "A disease involving leukocytes." "ICD9:288 SCTID:54097007 DOID:9500 MEDGEN:7325 UMLS:C0023510 MESH:D007960 ICD9:288.9" + "A disease involving leukocytes." "ICD9:288 DOID:9500 SCTID:54097007 MEDGEN:7325 UMLS:C0023510 MESH:D007960 ICD9:288.9" "Quantification of sphingomyeline C16:0 measurement in a sample." "PMID:26068415" "A member of the class of ethylenediamine derivatives that is ethylenediamine in which one of the nitrogens is substituted by two methyl groups, and the other nitrogen is substituted by a 2-pyridyl group and a (2-thienyl)methyl group." "Patent:US2581868 CAS:91-80-5 Reaxys:220729 PMID:22015589 SNOMEDCT:59338009 NCIt:C81143 Wikipedia:Methapyrilene DrugBank:DB04819 KEGG:C11114 PMID:24486436 LINCS:LSM-5582 MeSH:D008701 PMID:11137066 Drug_Central:1738" "OMIM:615735 ICD10:Q82.8" @@ -5206,7 +5206,7 @@ "UMLS:C5543632 MEDGEN:1780329 DOID:0070447 OMIM:619425" "A myeloblast committed to the neutrophil lineage. This cell type is GATA-1 positive, C/EBPa-positive, AML-1-positive, c-myb-positive and has low expression of PU.1 transcription factor." "ZFA:0009018" - "A benzodiazepine that is 10H-thieno[2,3-b][1,5]benzodiazepine substituted by a methyl group at position 2 and a 4-methylpiperazin-1-yl group at position 4." "PMID:18504690 Reaxys:7655141 CAS:132539-06-1 PMID:18022155 DrugBank:DB00334 SNOMEDCT:386849001 Patent:US5229382 KEGG:C07322 Patent:EP454436 NCIt:C47639 KEGG:D00454 Wikipedia:Olanzapine Drug_Central:1982 MeSH:C076029 PMID:18792627 SNOMEDCT:108441004" + "A benzodiazepine that is 10H-thieno[2,3-b][1,5]benzodiazepine substituted by a methyl group at position 2 and a 4-methylpiperazin-1-yl group at position 4." "PMID:18504690 Reaxys:7655141 CAS:132539-06-1 PMID:18022155 DrugBank:DB00334 SNOMEDCT:386849001 Patent:US5229382 KEGG:C07322 Patent:EP454436 NCIt:C47639 KEGG:D00454 Wikipedia:Olanzapine Drug_Central:1982 PMID:18792627 MeSH:C076029 SNOMEDCT:108441004" "Quantification of the amount of 3-Methylcrotonyl glycine in a sample." "PMID:33634981" "Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region." "GARD:20075 UMLS:C4749346 Orphanet:166308 MEDGEN:1663004" "Epithelial tube that transports milk[GO]." "CALOHA:TS-2385 UMLS:C0222613 SCTID:361719004 MA:0000791 NCIT:C32910 EMAPA:35538 BTO:0002845 Wikipedia:Lactiferous_duct FMA:58006" @@ -5492,7 +5492,7 @@ "MEDGEN:337424 SCTID:720982007 OMIM:300194 GARD:16761 DOID:0111860 MESH:C564570 Orphanet:86818 UMLS:C1846242" "The state of being infected such as from the introduction of a foreign agent such as serum, vaccine, antigenic substance or organism." "MedDRA:10021789 MeSH:D007239" "Quantification of glutathione S-transferase Mu 1 in a sample." "PMID:29875488" - "An N-acyl-amino acid that is a form of the water-soluble vitamin B9. Its biologically active forms (tetrahydrofolate and others) are essential for nucleotide biosynthesis and homocysteine remethylation." "LINCS:LSM-5355 PMID:19335717 FooDB:FDB014504 PMID:15831910 PMID:24650098 PMID:33965562 PMID:10958818 AGR:IND606960789 PMID:34219855 PMID:10897644 Chemspider:5815 PMID:7738698 KEGG COMPOUND:59-30-3 PMID:9808641 PMID:16871332 PMID:11451208 PMID:16277678 ChemIDplus:59-30-3 KEGG:C00504 PMID:33624660 PMID:15797531 KNApSAcK:C00001539 PMID:16380297 PMID:15321809 PMID:15797685 PMID:15523939 Wikipedia:Folic_Acid MeSH:D005492 PMID:8235383 PMID:14387833 PMID:19355913 PDBeChem:FOL PMID:16093404 NIST Chemistry WebBook:59-30-3 PMID:34207319 PMID:33968971 Beilstein:100781 PMID:11261364 Reaxys:100781 PMID:11959400 HMDB:HMDB0000121 Drug_Central:1231 SNOMEDCT:63718003 CiteXplore:17784727 PMID:9683174 PMID:9040515 ChEMBL:18788725 MetaCyc:CPD-12826 KEGG COMPOUND:C00504 CAS:59-30-3 PMID:10138938 PMID:9420019 PMID:15990733 PMID:9565830 PMID:19121630 KEGG:D00070 PMID:17784727 DrugBank:DB00158 PMID:9808640 PMID:18788725 PMID:15754725 PMID:9781393 NCIt:C510" + "An N-acyl-amino acid that is a form of the water-soluble vitamin B9. Its biologically active forms (tetrahydrofolate and others) are essential for nucleotide biosynthesis and homocysteine remethylation." "PMID:19335717 LINCS:LSM-5355 FooDB:FDB014504 PMID:15831910 PMID:24650098 PMID:33965562 PMID:10958818 AGR:IND606960789 PMID:34219855 PMID:10897644 Chemspider:5815 PMID:7738698 KEGG COMPOUND:59-30-3 PMID:9808641 PMID:16871332 PMID:11451208 PMID:16277678 ChemIDplus:59-30-3 KEGG:C00504 PMID:33624660 PMID:15797531 KNApSAcK:C00001539 PMID:16380297 PMID:15321809 PMID:15797685 PMID:15523939 Wikipedia:Folic_Acid MeSH:D005492 PMID:8235383 PMID:14387833 PMID:19355913 PDBeChem:FOL PMID:16093404 NIST Chemistry WebBook:59-30-3 PMID:34207319 PMID:33968971 Beilstein:100781 PMID:11261364 Reaxys:100781 PMID:11959400 HMDB:HMDB0000121 Drug_Central:1231 SNOMEDCT:63718003 CiteXplore:17784727 PMID:9683174 PMID:9040515 ChEMBL:18788725 MetaCyc:CPD-12826 KEGG COMPOUND:C00504 CAS:59-30-3 PMID:10138938 PMID:9420019 PMID:15990733 PMID:9565830 PMID:19121630 KEGG:D00070 PMID:17784727 DrugBank:DB00158 PMID:9808640 PMID:18788725 PMID:15754725 PMID:9781393 NCIt:C510" "A triglyceride in which the three acyl groups contain a total of 52 carbons and 1 double bond." "19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features." "UMLS:C5679996 Orphanet:447980 GARD:21875 MEDGEN:1807189" "Part of ventricular system of brain consisting of a narrow channel in the midbrain connecting the third and fourth ventricles. (Maryann Martone)." "SCTID:279249003 FMA:78467 ZFA:0000159 BIRNLEX:1261 EHDAA2:0001163 GAID:583 ncithesaurus:Cerebral_Aqueduct Wikipedia:Cerebral_aqueduct BAMS:AQ MBA:140 TAO:0000159 DMBA:126651722 VHOG:0000832 MA:0000208 DHBA:10651 BM:MB-AQ HBA:265505702 neuronames:509 DHBA:12369 BAMS:Aq MESH:D002535 EV:0100309 EMAPA:17795 EHDAA:3696 UMLS:C0007769 EFO:0003501 NCIT:C32135" @@ -6104,7 +6104,7 @@ "ICD10:Q93.5" "OMIM:276950 ICD10:Q87.8 OMIM:314390" - "A dentine-like hypermineralized substance that covers the tooth tip. Enamel's primary mineral is hydroxylapatite, which is a crystalline calcium phosphate. Unlike dentin and bone, enamel does not contain collagen. Instead, it has two unique classes of proteins called amelogenins and enamelins[WP]." "CALOHA:TS-1057 SCTID:362113009 EMAPA:35303 UMLS:C0011350 MA:0002543 VSAO:0000065 Wikipedia:Enamel_organ XAO:0004198 MESH:D003743 BTO:0001844 FMA:55629 NCIT:C32505" + "A dentine-like hypermineralized substance that covers the tooth tip. Enamel's primary mineral is hydroxylapatite, which is a crystalline calcium phosphate. Unlike dentin and bone, enamel does not contain collagen. Instead, it has two unique classes of proteins called amelogenins and enamelins[WP]." "CALOHA:TS-1057 SCTID:362113009 EMAPA:35303 UMLS:C0011350 MA:0002543 VSAO:0000065 XAO:0004198 Wikipedia:Enamel_organ MESH:D003743 BTO:0001844 FMA:55629 NCIT:C32505" "quantification of the amount of chromogranin B cleavage product in a sample" "MeSH:C537986 MeSH:C538078 ICD10:G60.0 OMIM:118300 UMLS:C1861669 UMLS:C2931686" @@ -6169,7 +6169,7 @@ "Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene." "MEDGEN:410143 UMLS:C1970757 MESH:C567060 GARD:18246 OMIM:313500" "A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems." "icd11.foundation:1748922908 MEDGEN:58162 MONDO:0008585 DOID:13133 UMLS:C0162739 MeSH:D017359 GARD:8528 MESH:D017359 Orphanet:244242 NCIT:C84750 MedDRA:10049058" "Maximum-Depth sequencing" "PMID:27338792" - "An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center." "ICD9:022.0 SCTID:84980006 icd11.foundation:2057984300 UMLS:C0003177 DOID:7426 MEDGEN:1959 MESH:C531621 ICD10CM:A22.0" + "An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center." "ICD9:022.0 SCTID:84980006 UMLS:C0003177 icd11.foundation:2057984300 DOID:7426 MEDGEN:1959 MESH:C531621 ICD10CM:A22.0" "Mesenchyme that is part of a developing pectoral fin [Automatically generated definition]." "ZFA:0001000 EFO:0003604 TAO:0001000" "human non-small cell lung carcinoma cell line from a 62 year old Caucasian female (ATCC CRL-5907)" "BTO:0005837 RRID:CVCL_1508 CLO:0008032 ATCC:CRL-5907" "Any of the vessels through which blood circulates in the body." "TAO:0001079 MeSH:D001808 MFO:0002960 SAEL:9 MAT:0000393 EV:0100456 BTO:0001102" @@ -6835,7 +6835,7 @@ "X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." "ICD10:D64.0 OMIM:300751 MeSH:C536761" "UMLS:C5543538 MEDGEN:1781627 OMIM:619373" "Quantification of the amount of 11(12)-EET in a sample." "PMID:35995766" - "Orphanet:206970 GARD:20372 MEDGEN:107510 MESH:D020967 MedDRA:10028658 UMLS:C0553604" + "GARD:20372 MEDGEN:107510 MESH:D020967 MedDRA:10028658 UMLS:C0553604 Orphanet:206970" "A measure of the thickness of the ganglion cell inner plexiform layer (GCIPL). It is typically measured using optical imaging methods such as optical coherence tomography (OCT). The thickness of the ganglion cell complex (GCC), the collective name for the retinal nerve fibre layer and the ganglion cell inner plexiform layer, is one of the biomarkers used in the diagnosis of primary open angle glaucoma (POAG)." "PMID:33979322" "Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies." "DOID:10034 ICD9:367.5 UMLS:C0152198 SCTID:54552008 MEDGEN:508925" "ICD10:Q82.8" @@ -6902,7 +6902,7 @@ "A large cell neuroendocrine carcinoma that involves the lung(s)." "NCIT:C5672 MEDGEN:233608 UMLS:C1334363 DOID:6658" "The amount of a START domain-containing protein 10 when measured in blood serum." - "A member of the class of phenols that is 4-aminophenol in which one of the hydrogens attached to the amino group has been replaced by an acetyl group." "PMID:22770225 PMID:25962350 LINCS:LSM-5533 HMDB:HMDB0001859 PMID:29398597 PMID:18953082 SNOMEDCT:387517004 KEGG:D00217 DrugBank:DB00316 Drug_Central:52 MetaCyc:CPD-7669 KEGG COMPOUND:103-90-2 PMID:27320817 Reaxys:2208089 NCIt:C198 PMID:7602118 NIST Chemistry WebBook:103-90-2 PMID:16716555 MeSH:D000082 Beilstein:2208089 PMID:28734939 KEGG:C06804 CAS:103-90-2 PMID:11084378 ChEMBL:116450 Chemspider:1906 PMID:11304127 PDBeChem:TYL CiteXplore:11304127 CiteXplore:21108564 PMID:21108564 Wikipedia:Acetaminophen CiteXplore:7602118 HMDB:HMDB01859 CiteXplore:16716555 SNOMEDCT:90332006 KEGG DRUG:D00217 KEGG COMPOUND:C06804 ChemIDplus:103-90-2 PMID:25128677 PMID:22114686" + "A member of the class of phenols that is 4-aminophenol in which one of the hydrogens attached to the amino group has been replaced by an acetyl group." "PMID:22770225 PMID:25962350 LINCS:LSM-5533 HMDB:HMDB0001859 PMID:29398597 PMID:18953082 SNOMEDCT:387517004 KEGG:D00217 DrugBank:DB00316 Drug_Central:52 MetaCyc:CPD-7669 KEGG COMPOUND:103-90-2 PMID:27320817 Reaxys:2208089 NCIt:C198 PMID:7602118 NIST Chemistry WebBook:103-90-2 PMID:16716555 MeSH:D000082 Beilstein:2208089 PMID:28734939 KEGG:C06804 CAS:103-90-2 PMID:11084378 ChEMBL:116450 Chemspider:1906 PMID:11304127 PDBeChem:TYL CiteXplore:11304127 CiteXplore:21108564 Wikipedia:Acetaminophen PMID:21108564 CiteXplore:7602118 HMDB:HMDB01859 CiteXplore:16716555 SNOMEDCT:90332006 KEGG DRUG:D00217 KEGG COMPOUND:C06804 ChemIDplus:103-90-2 PMID:25128677 PMID:22114686" "A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." "MeSH:D003865 SNOMEDCT:370143000 DOID:2848 SNOMEDCT:300706003 DOID:1470 MedDRA:10045543 DOID:1595 NCIt:C35094 ICD10:F32 SNOMEDCT:321717001 ICD10:F33 OMIM:608516" "The amount of a septin-8 when measured in blood." "PMID:37794183" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of steroids." "PMID:34850884" @@ -7165,7 +7165,7 @@ "CS57691 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158715&type=germplasm" - "The fibrous investing tissue, covered by keratinized epithelium, that immediately surrounds a tooth and is contiguous with its periodontal ligament and with the mucosal tissues of the mouth[Glossary of Periodontal Terms 2001]." "MA:0000342 SCTID:181224006 FMA:59762 galen:Gingiva EFO:0001925 EV:0100064 Wikipedia:Gingiva EMAPA:35945 VHOG:0001269 NCIT:C32677 MESH:D005881 UMLS:C0017562 GAID:1257 CALOHA:TS-2074 BTO:0000519" + "The fibrous investing tissue, covered by keratinized epithelium, that immediately surrounds a tooth and is contiguous with its periodontal ligament and with the mucosal tissues of the mouth[Glossary of Periodontal Terms 2001]." "MA:0000342 SCTID:181224006 galen:Gingiva FMA:59762 EFO:0001925 EV:0100064 Wikipedia:Gingiva EMAPA:35945 VHOG:0001269 NCIT:C32677 MESH:D005881 UMLS:C0017562 GAID:1257 CALOHA:TS-2074 BTO:0000519" "The amount of a E3 ubiquitin-protein ligase TRIM21 when measured in blood." "PMID:37794183" "Quantification of regulator of G-protein signaling 8 in a sample." "PMID:29875488" @@ -7552,7 +7552,7 @@ "icd11.foundation:714196201 Orphanet:295132" "The amount of a deubiquitinase OTUD6B when measured in blood." "PMID:37794183" "Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK)." "ICD9:757.39 UMLS:C1840296 OMIM:146590 NORD:1281 MEDGEN:326700 SCTID:254170001 Orphanet:79503 MESH:C536088 GARD:2954" - "A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." "OMIM:616721 DOID:0050571 UMLS:C5574948 MEDGEN:1812737 OMIM:616828 OMIMPS:212066 OMIM:301045 MeSH:C535747 OMIM:616829 MESH:C535747 MONDO:0005501 OMIM:617395" + "A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." "OMIM:616721 OMIM:617395 DOID:0050571 UMLS:C5574948 MEDGEN:1812737 OMIM:616828 OMIMPS:212066 OMIM:301045 MeSH:C535747 OMIM:616829 MESH:C535747 MONDO:0005501" "UMLS:C4025281" "A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus." "icd11.foundation:292650041 SCTID:240613006 MEDGEN:11976 MeSH:D014437 MedDRA:10045278 ICD10:A75.9 UMLS:C0041472 MONDO:0001246 GARD:19829 ICD10:A75 ICD10:A75.2 ICD9:081.0 Orphanet:102023 UMLS:C0041471 DOID:11256 ICD9:080 ICD9:081.9 UMLS:C0041473 MeSH:D014438 ICD10:A75.0 MedDRA:10061393" "The amount of a ubiquitin-conjugating enzyme E2 H when measured in blood serum." @@ -9964,7 +9964,7 @@ - "A midline, cone like structure located in the dorso-caudal roof of the 3rd ventricle, attached by peduncles to the habenular and posterior commissures. The stalk contains nerve fibers, blood vessels, connective tissue and parenchymal cells (Paxinos, The Rat Central Nervous System, 2nd ed, pg 399)." "NCIT:C12398 TAO:0000019 XAO:0000160 BTO:0001067 MESH:D010870 EHDAA:7523 EV:0100221 MBA:953 galen:PinealGland VHOG:0000051 BAMS:Pi neuronames:297 ZFA:0000019 EFO:0000865 EMAPA:18778 UMLS:C0031939 BM:P Wikipedia:Pineal_gland BIRNLEX:1184 SCTID:181126002 AAO:0010549 EV:0100131 EHDAA2:0001466 GAID:453 NLXANAT:1010009 FMA:62033 MA:0000175 HBA:4532 CALOHA:TS-0789 BAMS:PIN DHBA:10460 MAT:0000448" + "A midline, cone like structure located in the dorso-caudal roof of the 3rd ventricle, attached by peduncles to the habenular and posterior commissures. The stalk contains nerve fibers, blood vessels, connective tissue and parenchymal cells (Paxinos, The Rat Central Nervous System, 2nd ed, pg 399)." "NCIT:C12398 TAO:0000019 XAO:0000160 BTO:0001067 MESH:D010870 EHDAA:7523 EV:0100221 MBA:953 galen:PinealGland VHOG:0000051 BAMS:Pi neuronames:297 ZFA:0000019 EFO:0000865 EMAPA:18778 UMLS:C0031939 BM:P BIRNLEX:1184 Wikipedia:Pineal_gland AAO:0010549 SCTID:181126002 EV:0100131 EHDAA2:0001466 GAID:453 NLXANAT:1010009 FMA:62033 MA:0000175 HBA:4532 CALOHA:TS-0789 BAMS:PIN DHBA:10460 MAT:0000448" "The amount of a D-amino-acid oxidase when measured in blood serum." "Fixation and immobility of a joint." "DOID:227 ICD9:718.5 UMLS:C0003090 MEDGEN:8101 ICD9:718.50 HP:0031013 SCTID:111227009 MESH:D000844" @@ -10801,7 +10801,7 @@ "The maximum rate of gas flow, beginning at the point of peak inspiratory capacity, that can be sustained during forced exhalation for a defined period of time." "PMID:30804560 NCIt:C41372" "Acute otitis media is a short and generally painful infection of the middle ear." "UMLS:C0271429 SNOMEDCT_US:3110003" - "An epithelium that is part of a nasopharynx [Automatically generated definition]." "VHOG:0001038 CALOHA:TS-0662 EMAPA:17672 BTO:0004480 MA:0001865 NCIT:C49263 EHDAA2:0001241 UMLS:C1179157 FMA:62452 EHDAA:7090" + "An epithelium that is part of a nasopharynx [Automatically generated definition]." "VHOG:0001038 CALOHA:TS-0662 EMAPA:17672 BTO:0004480 MA:0001865 EHDAA2:0001241 NCIT:C49263 UMLS:C1179157 FMA:62452 EHDAA:7090" "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." "OMIM:300448 ICD10:D46.7 ICD10:D56.0" "A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction." "MEDGEN:76097 UMLS:C0280328 SCTID:707427000 NCIT:C8188 DOID:3752" @@ -13513,7 +13513,7 @@ "MEDGEN:1841161 UMLS:C5830525 OMIM:620376" "Quantification of ADAMTS-like protein 1 in a sample." "PMID:29875488" - "A hemangiopericytoma arising from the kidney." "DOID:262 MEDGEN:1847044 NCIT:C4527 UMLS:C5848097 SCTID:254923001" + "A hemangiopericytoma arising from the kidney." "DOID:262 NCIT:C4527 MEDGEN:1847044 UMLS:C5848097 SCTID:254923001" "Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma." "NCIT:C3190 MESH:D008039 Orphanet:36273 SCTID:721629005 UMLS:C4303226 ICDO:8142/3 DOID:4023 MEDGEN:928895 GARD:18822" "Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations." "ICD9:758.89 icd11.foundation:1182006735 SCTID:698849002 OMIM:614290 UMLS:C0795868 MESH:C538306 Orphanet:3307 GARD:35 MEDGEN:167079" "A type of hyponatremia related to ingestion of the diuretic thiazide" @@ -13575,7 +13575,7 @@ "Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." "UMLS:C4025649 UMLS:C3494187 SNOMEDCT_US:234440005" "Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated." "MEDGEN:766784 OMIM:614851 DOID:0070011 UMLS:C3553870 GARD:17469 Orphanet:319675" "Immortalized mouse embryonic stem cell line" - "A disease involving the prostate gland." "ICD9:602.8 MEDGEN:10964 ICD9:602.9 ICD10:N42 UMLS:C0033575 DOID:47 MESH:D011469 NCIT:C26865 SCTID:30281009 MONDO:0003105" + "A disease involving the prostate gland." "ICD9:602.8 MEDGEN:10964 ICD9:602.9 ICD10:N42 UMLS:C0033575 DOID:47 MESH:D011469 SCTID:30281009 NCIT:C26865 MONDO:0003105" "Quantification of the amount of X-21285 in a sample." "PMID:35347128" @@ -14023,6 +14023,7 @@ "A person who studies the causes and effects of diseases, especially one who examines laboratory samples of body tissue for diagnostic or forensic purposes." "NCIt:C17723" "MEDGEN:1788942 OMIM:301056 UMLS:C5542341" "The amount of a creatine kinase U-type, mitochondrial when measured in blood." "PMID:37794183" + "The age at which isolated dystonia manifestations first appear." "The line was made from L3 prothoracic leg discs in the Milner lab (Currie et al., 1988)." "FBtc:FBtc0000155 PMID:25262759 http://flybase.org/reports/FBtc0000155.html PMID:21177962" "Primordium that will form the secretory body of the embryonic/larval salivary gland. This primordium is first apparent as two epidermal placodes on the medial surface of the labial buds during stage 11. These placodes invaginate during embryonic stage 11 to form simple tubes on each side of the embryo that are positioned approximately along the dorso-ventral axis. Once internalized, the primordia migrate posteriorly during embryonic stage 12. They fuse to the developing salivary gland common duct by stage 13 and shortly after begin to show signs of secretory activity." "FBbt:00005512" "ICD10:Q15.8" @@ -14466,7 +14467,7 @@ "SNOMEDCT:54365000 MeSH:D015010 NCIt:C86860" "Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown." "DOID:4326 UMLS:C0242917 MESH:D018702 MeSH:D018702 MEDGEN:67006 MONDO:0005762" - "An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells." "MEDGEN:233275 DOID:5263 NCIT:C5234 MONDO:0003355 UMLS:C1335163 EFO:0006718" + "An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells." "DOID:5263 NCIT:C5234 MONDO:0003355 UMLS:C1335163 EFO:0006718 MEDGEN:233275" "The amount of a primate-type serum amyloid A-4 protein when measured in blood." "PMID:37794183" "OMIM:620265 MEDGEN:1840936 UMLS:C5830300 DOID:0081339" @@ -14874,7 +14875,7 @@ "The amount of a GRIP and coiled-coil domain-containing protein 1 when measured in blood." "PMID:37794183" "OMIM:620704" - "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production." "GARD:21314 ICD9:272.8 DOID:3146 MedDRA:10061227 NCIT:C97092 ICD9:272.9 SCTID:267431006 SCTID:402788005 UMLS:C0154251 MEDGEN:57587 Orphanet:309005" + "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production." "GARD:21314 MedDRA:10061227 ICD9:272.8 DOID:3146 NCIT:C97092 ICD9:272.9 SCTID:267431006 SCTID:402788005 UMLS:C0154251 MEDGEN:57587 Orphanet:309005" "icd11.foundation:1787577133 GARD:20976 Orphanet:268868" "A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated." "OMIM:617810 UMLS:C4540520 GARD:17969 MEDGEN:1615160 Orphanet:529665" "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." "DOID:0080511 UMLS:C5561924 MEDGEN:1794134 OMIM:131900 ICD9:757.39 Orphanet:79399 SCTID:90496008 GARD:2147" @@ -15045,7 +15046,7 @@ "Quantification of dynactin-associated protein in a sample." "PMID:29875488" "A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis." "OMIM:151590 MESH:D018459 Orphanet:33409 UMLS:C0023652 SCTID:25674000 NCIT:C26817 MEDGEN:7338 ICD10CM:L90.0" "An inability to digest lactose." "SNOMEDCT_US:700094005 SNOMEDCT_US:267425008 UMLS:C0022951" - "Inflammation of the gallbladder in the absence of gallstones." "SCTID:19968009 MeSH:D042101 DOID:2828 MEDGEN:82762 NCIT:C35578 MONDO:0006633 MESH:D042101 NCIt:C35578 MedDRA:10000347 UMLS:C0267841" + "Inflammation of the gallbladder in the absence of gallstones." "MeSH:D042101 SCTID:19968009 DOID:2828 MEDGEN:82762 NCIT:C35578 MONDO:0006633 MESH:D042101 NCIt:C35578 MedDRA:10000347 UMLS:C0267841" "Quantification of the amount of down syndrome cell adhesion molecule measurement in a sample." "PMID:36168886" "A methanesulfonate (mesylate) salt that is the monomesylate salt of imatinib. Used for treatment of chronic myelogenous leukemia and gastrointestinal stromal tumours." "PMID:21333826 PMID:17212133 PMID:19542718 HMDB:HMDB0014757 PMID:16805961 PMID:23462796 PMID:12616857 PMID:15161340 CAS:220127-57-1 Patent:WO2004106326 Patent:WO9903854 Patent:RU2365587 PMID:15727903 PMID:12975485 PMID:19568828 PMID:19508953 PMID:14760091 PMID:18422477 PMID:15601563 PMID:19073506 PMID:15250677 PMID:12669406 PMID:16570351 Patent:WO2011161689 DrugBank:DB00619 PMID:12047970 PMID:19258052 KEGG:D01441 PMID:16835496 PMID:15059881 Reaxys:10229624 PMID:21084823 PMID:15206509" "a disease located in the placenta" "MONDO:0005917 DOID:780 MeSH:NoID MESH:D010922 SCTID:125586008 ICD9:646.9 UMLS:C0032045 MEDGEN:10781 ICD9:656.70 NCIT:C26857" @@ -16409,7 +16410,7 @@ "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene." "GARD:15822 DOID:0070046 MEDGEN:766163 OMIM:614609 UMLS:C3553249" "UMLS:C1865916" "An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge." "SCTID:37610005 NCIT:C26716 HP:0030160 ICD9:616.0 UMLS:C0007860 MESH:D002575 MEDGEN:3338 icd11.foundation:1433247301 DOID:2568" - "A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." "ONCOTREE:URCC EFO:1000603 NCIT:C27892 UMLS:C1336853" + "A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." "ONCOTREE:URCC EFO:1000603 UMLS:C1336853 NCIT:C27892" "OMIM:616668 ICD10:G60.0 OMIM:618400 OMIM:617087" "A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye." "MedDRA:100233350 MESH:D007638 SCTID:46152009 DOID:12895 MESH:D015352 HP:0001097 DOID:10140 MeSH:D007638 NCIT:C34553 ICD9:375.15 MeSH:D015352 MEDGEN:4411 MONDO:0006733 SNOMEDCT:302896008 SCTID:302896008 MedDRA:10013777 UMLS:C0013238" "ICD10:N46" @@ -17035,7 +17036,7 @@ "The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." "MEDGEN:325070 DOID:0090025 Orphanet:1307 GARD:3252 NCIT:C75121 SCTID:722429003 OMIM:246560 MESH:C565437 UMLS:C1838652" "MEDGEN:235339 NCIT:C7070 UMLS:C1334811" - "The elbow is the region surrounding the elbow-joint-the ginglymus or hinge joint in the middle of the arm. Three bones form the elbow joint: the humerus of the upper arm, and the paired radius and ulna of the forearm. The bony prominence at the very tip of the elbow is the olecranon process of the ulna, and the inner aspect of the elbow is called the antecubital fossa. [WP,unvetted,human-specific]." "EMAPA:17414 galen:Elbow SCTID:76248009 EHDAA2:0000429 EHDAA:6212 CALOHA:TS-2222 MESH:D004550 Wikipedia:Elbow VHOG:0000340 GAID:54 EFO:0003069 MA:0000036 EHDAA:4166 FMA:24901" + "The elbow is the region surrounding the elbow-joint-the ginglymus or hinge joint in the middle of the arm. Three bones form the elbow joint: the humerus of the upper arm, and the paired radius and ulna of the forearm. The bony prominence at the very tip of the elbow is the olecranon process of the ulna, and the inner aspect of the elbow is called the antecubital fossa. [WP,unvetted,human-specific]." "galen:Elbow SCTID:76248009 EHDAA2:0000429 EHDAA:6212 CALOHA:TS-2222 MESH:D004550 Wikipedia:Elbow VHOG:0000340 GAID:54 EFO:0003069 MA:0000036 EHDAA:4166 FMA:24901 EMAPA:17414" "GARD:16250 UMLS:C4540345 OMIM:617760 MEDGEN:1627492 DOID:0111221" "MeSH:D001412 NCIt:C86167 SNOMEDCT:83512007" @@ -17597,7 +17598,7 @@ "A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp." "SCTID:92470003 DOID:0060095 ICD9:219.9 MEDGEN:57809 NCIT:C3609 UMLS:C0153999 ICD9:219.8" "GARD:18513 OMIM:617755 MEDGEN:1627464 UMLS:C4540327 DOID:0070514" - "The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals. Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." "ZFA:0000008 GAID:571 BIRNLEX:796 MBA:8 BAMS:Br EHDAA:2641 EHDAA:6485 XAO:0000010 galen:Brain MIAA:0000098 EMAPA:16894 neuronames:21 FMA:50801 ABA:Brain UMLS:C1269537 BILA:0000135 EHDAA2:0000183 EFO:0000302 MAT:0000098 DHBA:10155 UMLS:C0006104 BAMS:Brain TAO:0000008 AAO:0010478 HBA:4005 EV:0100164 NCIT:C12439 MA:0000168 FBbt:00005095 MESH:D001921 SCTID:258335003 Wikipedia:Brain BTO:0000142 PBA:3999 VHOG:0000157 MBA:997 CALOHA:TS-0095" + "The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals. Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]." "ZFA:0000008 GAID:571 BIRNLEX:796 MBA:8 EHDAA:2641 BAMS:Br EHDAA:6485 XAO:0000010 galen:Brain MIAA:0000098 EMAPA:16894 neuronames:21 FMA:50801 ABA:Brain UMLS:C1269537 BILA:0000135 EHDAA2:0000183 EFO:0000302 MAT:0000098 DHBA:10155 UMLS:C0006104 BAMS:Brain TAO:0000008 AAO:0010478 HBA:4005 EV:0100164 NCIT:C12439 MA:0000168 FBbt:00005095 MESH:D001921 SCTID:258335003 Wikipedia:Brain BTO:0000142 PBA:3999 VHOG:0000157 MBA:997 CALOHA:TS-0095" "ICD10:D64.0" "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene." "OMIM:611584 GARD:15521 MEDGEN:398476 UMLS:C2700405 DOID:0110956" "The amount of a endothelial lipase when measured in blood serum." @@ -18446,7 +18447,7 @@ "The amount of a disintegrin and metalloproteinase domain-containing protein 30 when measured in blood serum." "OMIM:619714 MEDGEN:1794278 UMLS:C5562068" - "An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland." "NCIT:C32132 DOID:2282 MESH:D016575 ICD9:705.83 SCTID:69741000 MEDGEN:43115 UMLS:C0085160" + "An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland." "NCIT:C32132 DOID:2282 MESH:D016575 ICD9:705.83 SCTID:69741000 UMLS:C0085160 MEDGEN:43115" "Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth." "GARD:3912 MEDGEN:91010 DOID:0111528 OMIM:161000 icd11.foundation:352035640 Orphanet:69087 SCTID:239084001 MESH:C538331 UMLS:C0343111" "The amount of a GRB10-interacting GYF protein 2 when measured in blood." "PMID:37794183" @@ -18623,7 +18624,7 @@ "GARD:20912 UMLS:C5679689 Orphanet:263731 MEDGEN:1826029" "The amount of a glycerophosphoserine when measured in blood." "PMID:37253714" "A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures." "NCIT:C3778 ICDO:8441/3 MEDGEN:60212 UMLS:C0206701" - "A pyranoindolizinoquinoline used as an antineoplastic agent. It is a derivative of camptothecin and works by binding to the topoisomerase I-DNA complex and preventing religation of these 328 single strand breaks." "Reaxys:4279441 PMID:20574789 PMID:22136714 PMID:21352915 Reaxys:4279441 \"Reaxys Registry Number\" CiteXplore:21352915 \"PubMed citation\" CiteXplore:20574789 \"PubMed citation\" Wikipedia:Topotecan Patent:EP321122 \"Patent\" ChemIDplus:123948-87-8 \"CAS Registry Number\" PMID:22028494 CiteXplore:22190039 \"PubMed citation\" PMID:22075006 PMID:22190039 PDBeChem:TTC MeSH:D019772 DrugBank:DB01030 PMID:21910214 CiteXplore:22075006 \"PubMed citation\" PMID:21255983 CiteXplore:21910214 \"PubMed citation\" KEGG DRUG:D08618 \"KEGG DRUG\" CiteXplore:22136714 \"PubMed citation\" CiteXplore:22028494 \"PubMed citation\" CAS:123948-87-8 CiteXplore:21255983 \"PubMed citation\" KEGG COMPOUND:123948-87-8 \"CAS Registry Number\" NCIt:C1413 SNOMEDCT:108779005 Wikipedia:Topotecan \"Wikipedia\" LINCS:LSM-5662 KEGG:D08618 SNOMEDCT:372536007 KEGG:C11158 DrugBank:DB01030 \"DrugBank\" KEGG COMPOUND:C11158 \"KEGG COMPOUND\" Patent:EP321122" + "A pyranoindolizinoquinoline used as an antineoplastic agent. It is a derivative of camptothecin and works by binding to the topoisomerase I-DNA complex and preventing religation of these 328 single strand breaks." "Reaxys:4279441 PMID:20574789 PMID:22136714 PMID:21352915 Reaxys:4279441 \"Reaxys Registry Number\" CiteXplore:21352915 \"PubMed citation\" CiteXplore:20574789 \"PubMed citation\" Wikipedia:Topotecan Patent:EP321122 \"Patent\" ChemIDplus:123948-87-8 \"CAS Registry Number\" PMID:22028494 CiteXplore:22190039 \"PubMed citation\" PMID:22075006 PDBeChem:TTC PMID:22190039 MeSH:D019772 DrugBank:DB01030 PMID:21910214 CiteXplore:22075006 \"PubMed citation\" PMID:21255983 CiteXplore:21910214 \"PubMed citation\" KEGG DRUG:D08618 \"KEGG DRUG\" CiteXplore:22136714 \"PubMed citation\" CiteXplore:22028494 \"PubMed citation\" CAS:123948-87-8 CiteXplore:21255983 \"PubMed citation\" KEGG COMPOUND:123948-87-8 \"CAS Registry Number\" NCIt:C1413 SNOMEDCT:108779005 Wikipedia:Topotecan \"Wikipedia\" LINCS:LSM-5662 KEGG:D08618 SNOMEDCT:372536007 KEGG:C11158 DrugBank:DB01030 \"DrugBank\" KEGG COMPOUND:C11158 \"KEGG COMPOUND\" Patent:EP321122" "Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." "MESH:C536056 GARD:4151 UMLS:C1843330 OMIM:607634 DOID:0110937 Orphanet:2783 MEDGEN:335932" "A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells." "NCIT:C4022 ONCOTREE:ACRM DOID:6367 ICDO:8744/3 UMLS:C0346037 HP:0012060 MEDGEN:87530 SCTID:254732008" @@ -19415,7 +19416,7 @@ "DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome." "MESH:C563052 SCTID:719800009 NORD:1058 OMIM:220500 Orphanet:79500 MEDGEN:208648 GARD:1685 DOID:0111627 UMLS:C0795934" "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene." "MESH:C566500 UMLS:C1864987 MEDGEN:400655 DOID:0111183 GARD:10974 OMIM:609634" "Quantification of phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha in a sample." "PMID:29875488" - "A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear." "DOID:11433 ICD9:385.33 DOID:10964 ICD10:H71 ICD10CM:H71 SCTID:194339007 icd11.foundation:2134365487 ICD9:385.32 MedDRA:10008645 UMLS:C0155490 ICD9:385.3 MEDGEN:57836 MeSH:D018424 NCIT:C3654 MESH:D018424 MONDO:0006533" + "A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear." "DOID:11433 ICD9:385.33 DOID:10964 ICD10:H71 ICD10CM:H71 SCTID:194339007 icd11.foundation:2134365487 MedDRA:10008645 ICD9:385.32 UMLS:C0155490 ICD9:385.3 MEDGEN:57836 MeSH:D018424 NCIT:C3654 MESH:D018424 MONDO:0006533" "An O-acylcarnitine having isobutyryl as the acyl substituent." "PMID:23315938" "Quantification of whether an individual feels or felt worried." "PMID:29500382" @@ -19494,7 +19495,7 @@ "A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24." "OMIM:116700 UMLS:C3805373 DOID:0110242 MEDGEN:811703" "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene." "MESH:C564362 MEDGEN:375157 GARD:18270 DOID:0111202 UMLS:C1843315 OMIM:607641" - "A continuation of the pharynx that is involved in breathing, sound production, and protecting the trachea against food aspiration." "MAT:0000187 BTO:0001208 NCIT:C12420 FMA:55097 MESH:D007830 Wikipedia:Larynx SCTID:181212004 MA:0000414 CALOHA:TS-0532 UMLS:C0023078 galen:Larynx EHDAA2:0004063 AAO:0000268 XAO:0003081 EV:0100039 EMAPA:18333 VHOG:0001279 GAID:108 EFO:0000838 MIAA:0000187" + "A continuation of the pharynx that is involved in breathing, sound production, and protecting the trachea against food aspiration." "MAT:0000187 BTO:0001208 NCIT:C12420 FMA:55097 MESH:D007830 Wikipedia:Larynx SCTID:181212004 MA:0000414 CALOHA:TS-0532 UMLS:C0023078 EHDAA2:0004063 galen:Larynx AAO:0000268 XAO:0003081 EV:0100039 EMAPA:18333 VHOG:0001279 GAID:108 EFO:0000838 MIAA:0000187" "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology." "GARD:12453 OMIM:608340 MESH:C564256 DOID:0110201 MEDGEN:334012 Orphanet:217055 UMLS:C1842197" "quantification of the ratio between two body measures, eg waist-hip ratio" @@ -19519,7 +19520,7 @@ "The terminal part of the intestine from the sigmoid flexure to the anus." "BTO:0001158 TGMA:0001028 TADS:0000166 EHDAA:5836 EV:0100081 XAO:0000238 FMA:14544 MAT:0000050 SAEL:88 EMAPA:17896 WBbt:0005773 FBbt:00005756 MA:0000336" "UMLS:C5680524 MEDGEN:1843283 Orphanet:189466 GARD:17088" - "A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis." "Orphanet:497188 MEDGEN:458884 NCIT:C94764 GARD:0013075 MONDO:0006033 GARD:13075 ONCOTREE:DIPG EFO:1000026 UMLS:C2986658 MESH:D000080443" + "A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis." "MEDGEN:458884 Orphanet:497188 NCIT:C94764 GARD:0013075 MONDO:0006033 GARD:13075 ONCOTREE:DIPG EFO:1000026 UMLS:C2986658 MESH:D000080443" "Quantification of 26S proteasome non-ATPase regulatory subunit 4 in a sample." "PMID:29875488" "The familial amyloid neuropathies are a rare group of autosomal dominant neuropathies of autonomic and peripheral nerves." "NCIT:C84554 SCTID:42295001 ICD10EXP:G63.3* MESH:C567782 icd11.foundation:807065795 ICD10EXP:E85.1+ ICD9:277.39 MONDO:0007100 NANDO:1200214 UMLS:C0206245 DOID:0050761 OMIM:105210 GARD:21017 DOID:0050638 NCIt:C84554 MEDGEN:104815 OMIMPS:105210 NANDO:1201060 Orphanet:271861" @@ -19589,7 +19590,7 @@ "Uninfected class is a disposition in which the bearer is not known to be affected by a disease withtin the context of a study" "The amount of a leukocyte tyrosine kinase receptor when measured in blood serum." "Human small cell lung carcinoma cell line from a 53-year-old Caucasian male patient" - "Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced." "MeSH:D013717 MedDRA:10043261 DOID:970 UMLS:C0039520 SCTID:67801009 ICD10:M67 ICD10:M65 icd11.foundation:163006370 SNOMEDCT:67801009 MESH:D013717 MEDGEN:52670 MONDO:0004855" + "Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced." "MedDRA:10043261 MeSH:D013717 DOID:970 SCTID:67801009 UMLS:C0039520 ICD10:M67 ICD10:M65 icd11.foundation:163006370 SNOMEDCT:67801009 MESH:D013717 MEDGEN:52670 MONDO:0004855" "The amount of a disks large-associated protein 4 when measured in blood." "PMID:37794183" @@ -20675,7 +20676,7 @@ "An abnormality of the neck." "UMLS:C0266623 SNOMEDCT_US:298390003 UMLS:C4280628 SNOMEDCT_US:40052002 UMLS:C0575167" - "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma." "MONDO:0005087 ICD9:508.8 ICD9:508 ICD10:J98 ICD9:460-519.99 UMLS:C0035204 ICD9:519.1 ICD9:517 NCIt:C26871 ICD10:J99 ICD10:J06 ICD9:516.8 DOID:1579 ICD9:519.3 ICD9:510-519.99 SNOMEDCT:50043002 ICD9:V12.60 SCTID:50043002 ICD9:508.1 ICD10CM:J00-J99 MEDGEN:48421 ICD9:516.9 ICD10:J39 ICD9:517.8 NANDO:1100010 ICD10:J63 ICD9:519 NCIT:C26871 ICD9:519.8 MESH:D012140 ICD9:519.9 ICD9:503 ICD9:516 ICD9:V47.2 ICD9:508.9 ICD9:500-508.99 ICD10:J34" + "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma." "MONDO:0005087 ICD9:508.8 ICD9:508 ICD10:J98 ICD9:460-519.99 UMLS:C0035204 ICD9:519.1 ICD9:517 NCIt:C26871 ICD10:J99 ICD10:J06 ICD9:516.8 DOID:1579 ICD9:519.3 ICD9:510-519.99 SNOMEDCT:50043002 ICD9:V12.60 SCTID:50043002 ICD10CM:J00-J99 ICD9:508.1 MEDGEN:48421 ICD9:516.9 ICD10:J39 ICD9:517.8 NANDO:1100010 ICD10:J63 ICD9:519 NCIT:C26871 ICD9:519.8 MESH:D012140 ICD9:519.9 ICD9:503 ICD9:516 ICD9:V47.2 ICD9:508.9 ICD9:500-508.99 ICD10:J34" "Autosomal recessive form of spastic ataxia." "UMLS:C5679900 MEDGEN:1826141 GARD:21403 Orphanet:316240" "Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy." "CS57876 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158900&type=germplasm" @@ -21059,7 +21060,7 @@ "The amount of a isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial when measured in blood serum." "A mucosa that is part of a large intestine [Automatically generated definition]." "CALOHA:TS-2106 FMA:14969 UMLS:C0734203 NCIT:C32926 MA:0002688 EMAPA:35467" "The amount of a PC(17:0_18:1) when measured in blood serum." - "An ependymoma that arises from the spinal cord." "MEDGEN:65968 NCIT:C3875 SCTID:254949006 DOID:5503 UMLS:C0238432" + "An ependymoma that arises from the spinal cord." "NCIT:C3875 SCTID:254949006 DOID:5503 UMLS:C0238432 MEDGEN:65968" "An omega-hydroxy-long-chain fatty acid anion that is the conjugate base of 16-hydroxyhexadecanoic acid (also known as 16-hydroxypalmitic acid or juniperic acid)." "Reaxys:7346679" @@ -21896,7 +21897,7 @@ "Nephrosis-deafness-urinary tract-digital malformations syndrome is characterized by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant." "UMLS:C1850552 GARD:3943 MESH:C536402 Orphanet:2669 MEDGEN:340568 OMIM:256200" "The age at which colorectal cancer manifestations first appear." "Quantification of the amount of X-25417 in a sample." "PMID:35347128" - "A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\t" "DOID:11433 ICD9:385.33 DOID:10964 ICD10:H71 ICD10CM:H71 SCTID:194339007 icd11.foundation:2134365487 ICD9:385.32 MedDRA:10008645 UMLS:C0155490 ICD9:385.3 MEDGEN:57836 MeSH:D018424 NCIT:C3654 MESH:D018424 MONDO:0006533" + "A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.\t" "DOID:11433 ICD9:385.33 DOID:10964 ICD10:H71 ICD10CM:H71 SCTID:194339007 icd11.foundation:2134365487 MedDRA:10008645 ICD9:385.32 UMLS:C0155490 ICD9:385.3 MEDGEN:57836 MeSH:D018424 NCIT:C3654 MESH:D018424 MONDO:0006533" "Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." "MeSH:C536452 UMLS:C1857532 ICD10:Q87.5 OMIM:218090" "A metaphysis that is part of a femur." "FMA:32875 MA:0003052 EMAPA:37540" "The amount of a armadillo repeat-containing X-linked protein 2 when measured in blood." "PMID:37794183" @@ -22156,6 +22157,7 @@ "Mouse hybridoma cell line" "RRID:CVCL_A2IR" "GARD:16484 MEDGEN:861486 icd11.foundation:2030725523 UMLS:C4013049 Orphanet:98634 DOID:0050786" "A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures." "ICD9:733.29 MedDRA:10016664 NCIT:C34609 MEDGEN:120444 MESH:D005357 SCTID:254145001 GARD:6444 NORD:1147 DOID:0080031 Orphanet:249 icd11.foundation:1704766818 SCTID:10623005 UMLS:C0259779" + "The shape of a heart." "WS1 is a fibroblast cell isolated from the skin of a Black female donor" "CLO:0009634 RRID:CVCL_2766" "One of the usually paired compound saccular thoracic organs that constitute the basic respiratory organ of air-breathing vertebrates." "EV:0100042 EHDAA:2205 AAO:0000275 XAO:0000119 SAEL:62 MAT:0000135 FMA:7195 EMAPA:16728 BTO:0000763 MA:0000415" "An online-related compulsive behaviour which interferes with healthy living, resulting in significant impairment to various life domains over a prolonged period of time." "PMID:36566681" @@ -23070,7 +23072,7 @@ "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene." "UMLS:C3554306 GARD:15891 DOID:0060686 MEDGEN:767220 OMIM:615005" "The amount of a protein LTO1 homolog when measured in blood." "PMID:37794183" "ICD10:D84.8" - "The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]." "MA:0001361 AAO:0000890 CALOHA:TS-1048 SCTID:182061009 galen:Tibia EFO:0003054 UMLS:C0040184 NCIT:C12800 Wikipedia:Tibia EMAPA:19142 FMA:24476 BTO:0001252 GAID:204 MESH:D013977" + "The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]." "MA:0001361 AAO:0000890 CALOHA:TS-1048 SCTID:182061009 galen:Tibia EFO:0003054 UMLS:C0040184 NCIT:C12800 EMAPA:19142 Wikipedia:Tibia FMA:24476 BTO:0001252 GAID:204 MESH:D013977" "A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals." "MeSH:D048090 MESH:D048090 MONDO:0005678 DOID:3732" "Quantification of the amount of chromogranin-A measurement in a sample." "PMID:36168886" "A procedure to replace diseased bone marrow with transplanted healthy bone marrow cells." "PMID:35379913 NCIT:C15194" @@ -24360,7 +24362,7 @@ "A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 2." "NCIt:C80509 SNOMEDCT:387050005 Wikipedia:Prostaglandin-endoperoxide_synthase_2 SNOMEDCT:123954005" "Any retinopathy caused by a variant or variants in the PRPH2 gene." - "A bone in the skull that separates the nasal cavity from the brain. As such, it is located at the roof of the nose, between the two orbits. The cubical bone is lightweight due to a spongy construction. The ethmoid bone is one of the bones that makes up the orbit of the eye[WP]." "UMLS:C0015027 NCIT:C12711 Wikipedia:Ethmoid_bone VHOG:0001317 MESH:D005004 FMA:52740 EMAPA:19018 SCTID:272674006 BTO:0004140 MA:0001483 GAID:212" + "A bone in the skull that separates the nasal cavity from the brain. As such, it is located at the roof of the nose, between the two orbits. The cubical bone is lightweight due to a spongy construction. The ethmoid bone is one of the bones that makes up the orbit of the eye[WP]." "NCIT:C12711 Wikipedia:Ethmoid_bone VHOG:0001317 MESH:D005004 FMA:52740 EMAPA:19018 SCTID:272674006 BTO:0004140 MA:0001483 GAID:212 UMLS:C0015027" "The determination of the amount of epiregulin in a sample" "PMID:28240269" @@ -24609,7 +24611,7 @@ "The ONT MinION is a pocket-sized sequencing machine developed by Oxford Nanopore Technologies." "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" "WBls:0000005 EVM:2990005 XAO:1000003 FBdv:00005304" - "A mucosa that is part of a esophagus [Automatically generated definition]." "EMAPA:26981 BTO:0002859 NCIT:C32538 UMLS:C0227176 MESH:D000071041 MA:0002680 FMA:62996 SCTID:362127004" + "A mucosa that is part of a esophagus [Automatically generated definition]." "BTO:0002859 NCIT:C32538 UMLS:C0227176 MESH:D000071041 MA:0002680 FMA:62996 SCTID:362127004 EMAPA:26981" "Infections with bacteria of the family BARTONELLACEAE." "MEDGEN:2171 UMLS:C0004773 DOID:2809 MONDO:0006924 MESH:D001476 MeSH:D001476" "OMIM:124490 ICD10:Q87.0" "1: A large very vascular glandular organ of vertebrates that secretes bile and causes important changes in many of the substances contained in the blood (as by converting sugars into glycogen which it stores up until required and by forming urea).n2: Any of various large compound glands associated with the digestive tract of invertebrate animals and probably concerned with the secretion of digestive enzymes." "EV:0100089 XAO:0000133 MFO:0003060 ZFA:0000123 TAO:0000123 MA:0000358 EMAPA:16846 BTO:0000759 EHDAA:2197 FMA:7197 MAT:0000097" @@ -25303,6 +25305,7 @@ "A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause." "OMIM:215100 Orphanet:309789 UMLS:C1859133 NANDO:1200763 icd11.foundation:44503513 DOID:0110851 GARD:6049 MEDGEN:347072" "Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased." "MedDRA:10015549 NCIT:C113170 MeSH:D005067 SCTID:237542005 ICD10CM:E07.81 NCIt:C113170 MESH:D005067 MEDGEN:41908 MONDO:0006755 UMLS:C0015190 ICD9:790.94 DOID:2856" "Inflammation of the liver related to lipid accumulation in fatty liver." "SNOMEDCT:442191002 SNOMEDCT:197321007 MeSH:D005234 OMIM:228100" + "The amount of a apolipoprotein(a) when measured in blood." "PMID:36959364" "The amount of a ubiquitin-conjugating enzyme E2 C when measured in blood serum." "A quantitative confidence value that measures the minimum false discovery rate that is incurred when calling that test significant. \nTo compute q-values, it is necessary to know the p-value produced by a test and possibly set a false discovery rate level."@en "NCIt:C44185" @@ -26729,7 +26732,7 @@ "McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." "OMIM:300842 MedDRA:10081507" "UMLS:C2874202 MEDGEN:1789612 OMIM:619613" "GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied." - "A disorder involving the attachment of a tendon or ligament to a bone [database_cross_reference: https://en.wikipedia.org/wiki/Enthesopathy]" "ICD10:M76 MEDGEN:66909 MONDO:0002183 ICD9:726.90 ICD10:M77 MedDRA:10014910 MESH:D012216 MESH:D000070676 UMLS:C0242490 SCTID:23680005 DOID:204 ICD9:726.9" + "A disorder involving the attachment of a tendon or ligament to a bone [database_cross_reference: https://en.wikipedia.org/wiki/Enthesopathy]" "ICD10:M76 MEDGEN:66909 MONDO:0002183 ICD9:726.90 ICD10:M77 MedDRA:10014910 MESH:D012216 MESH:D000070676 UMLS:C0242490 DOID:204 ICD9:726.9 SCTID:23680005" "Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." "OMIM:192315" "DOID:0112006 UMLS:C5436498 OMIM:618963 MEDGEN:1735911" "Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." "UMLS:C1867801 MEDGEN:401304 MESH:C538278 Orphanet:2957 SCTID:722452004 OMIM:176305 GARD:4470 DOID:0111544" @@ -26833,6 +26836,7 @@ "MeSH:D000558 SNOMEDCT:52796007" + "This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate." "OMIM:612290 GARD:16966 UMLS:C2676772 Orphanet:140963 MEDGEN:382936 MESH:C567359" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating an increase or decrease in the concentration of solutes outside the organism or cell." "A disease involving the aortic valve." "ICD10:I06 MEDGEN:226776 UMLS:C1260873 ICD10:I35 NCIT:C78650 MedDRA:10061589 NCIt:C78650 ICD9:395 MONDO:0003803 OMIM:618496 ICD9:424.1 DOID:62" @@ -27850,7 +27854,7 @@ "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" "UMLS:C1956410 MEDGEN:365501 GARD:19617 Orphanet:99046 icd11.foundation:2032277111" "The amount of a nuclear pore complex-interacting protein family member B3 when measured in blood serum." - "An azaspiro compound that consists of 1,3,8-triazaspiro[4.5]decan-4-one having a phenyl group attached to N-1 and a 3-(4-fluorophenoxy)propyl attached to N-8. Selective 5-HT antagonist, which binds to 5-HT2 sites as potently as spiperone but has lower affinity for 5-HT2C receptors. Also a high affinity D2 receptor antagonist (Ki = 3 nM). Lacks the disruptive effect of spiperone on animal behaviour." "PMID:4776656 Patent:US3238216 PMID:4474849 NCIt:C66559 PMID:19875674 CiteXplore:17965538 CiteXplore:4776656 CiteXplore:4474849 CiteXplore:19875674 ChEMBL:229410 CAS:510-74-7 ChemIDplus:510-74-7 PMID:17965538 MeSH:C003338 LINCS:LSM-4124 Reaxys:631679 Wikipedia:Spiramide CiteXplore:11124389 PMID:11124389" + "An azaspiro compound that consists of 1,3,8-triazaspiro[4.5]decan-4-one having a phenyl group attached to N-1 and a 3-(4-fluorophenoxy)propyl attached to N-8. Selective 5-HT antagonist, which binds to 5-HT2 sites as potently as spiperone but has lower affinity for 5-HT2C receptors. Also a high affinity D2 receptor antagonist (Ki = 3 nM). Lacks the disruptive effect of spiperone on animal behaviour." "PMID:4776656 Patent:US3238216 PMID:4474849 NCIt:C66559 PMID:19875674 CiteXplore:4776656 CiteXplore:17965538 CiteXplore:4474849 CiteXplore:19875674 ChEMBL:229410 CAS:510-74-7 ChemIDplus:510-74-7 PMID:17965538 MeSH:C003338 LINCS:LSM-4124 Reaxys:631679 Wikipedia:Spiramide CiteXplore:11124389 PMID:11124389" "Quantification of heterogeneous nuclear ribonucleoprotein M in a sample." "PMID:29875488" "A ganglioneuroblastoma arising from the mediastinum." "MEDGEN:235308 DOID:10661 UMLS:C1334653 NCIT:C6627" "Is a quantification of the ability of humans to process different facial expressions, measured by MRI." @@ -27965,7 +27969,7 @@ "GARD:22329 icd11.foundation:437591130 MEDGEN:908476 NANDO:1200193 Orphanet:576379 UMLS:C2349757" "The amount of a beta-2-glycoprotein 1 when measured in blood." "PMID:37794183" - "Inflammation of the GALLBLADDER wall in the absence of GALLSTONES." "SCTID:19968009 MeSH:D042101 DOID:2828 MEDGEN:82762 NCIT:C35578 MONDO:0006633 MESH:D042101 NCIt:C35578 MedDRA:10000347 UMLS:C0267841" + "Inflammation of the GALLBLADDER wall in the absence of GALLSTONES." "MeSH:D042101 SCTID:19968009 DOID:2828 MEDGEN:82762 NCIT:C35578 MONDO:0006633 MESH:D042101 NCIt:C35578 MedDRA:10000347 UMLS:C0267841" "A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." "The amount of a L-lactate dehydrogenase C chain when measured in blood serum." "Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children." "UMLS:C0035235 SNOMEDCT:55735004 MEDGEN:48424 MeSH:D018357 MONDO:0001577 DOID:1273 NCIt:C3354 MedDRA:10061603 SCTID:55735004 MESH:D018357 NCIT:C3354" @@ -28650,7 +28654,7 @@ "quantification of the microstructre of the white matter of the brain" - "A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." "UMLS:C1332852 MEDGEN:232027 MONDO:0006123 HP:0009729 NCIT:C6739 EFO:1000150" + "A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." "UMLS:C1332852 MEDGEN:232027 HP:0009729 MONDO:0006123 NCIT:C6739 EFO:1000150" "A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." "DOID:0050922 NCIT:C96963 UMLS:C0151544 MONDO:0006181 EFO:1000218 MEDGEN:57467 HP:0002672" "The probability that an event will occur generally with unfavorable outcome." "Dissociation of a sample into individual cells using the Fluidigm C1 platform. Cells are captured on the C1 system (Fluidigm) and processed using the SMARTer chemistry (Clontech) according to the Fluidigm protocol." @@ -29335,7 +29339,7 @@ "Narrowing or constriction of a coronary artery." "DOID:4248 MedDRA:10011089 MeSH:D023921 NCIt:C80427 SNOMEDCT:251030009" "CLO:0007639 RRID:CVCL_0623 BTO:0001568" "Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." "NANDO:2200602 OMIMPS:103900 MEDGEN:780028 icd11.foundation:1586992015 UMLS:C3713420 MESH:C580087 NCIT:C127160 Orphanet:235936 GARD:20630 Orphanet:371861 SCTID:703231005 ICD10CM:E26.0" - "MYCOBACTERIUM infections of the female reproductive tract (GENITALIA, FEMALE)." "MESH:D014384 SCTID:74181004 MedDRA:10061150 DOID:13175 MEDGEN:546958 SNOMEDCT:74181004 UMLS:C0275931 MeSH:D014384 MONDO:0006758" + "MYCOBACTERIUM infections of the female reproductive tract (GENITALIA, FEMALE)." "MONDO:0006758 MESH:D014384 SCTID:74181004 MedDRA:10061150 DOID:13175 MEDGEN:546958 SNOMEDCT:74181004 UMLS:C0275931 MeSH:D014384" "Quantification of the amount of growth hormone in a sample, typically blood." "PMID:29065906" "Is a quantification of the ratio between optic cup and optic disc, used in the diagnosis of glaucoma" "A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity." "DOID:0080614 GARD:17599 MEDGEN:811705 UMLS:C3805375 OMIM:113750 Orphanet:370097 SCTID:722058005" @@ -29640,7 +29644,7 @@ "OMIM:604916 ICD10:Q87.8" "Quantification of cholesteryl esters to total lipids in small LDL." - "The lobe of the right lung that is closest to the head." "MA:0000429 EHDAA:4987 UMLS:C1261074 FMA:7333 NCIT:C33023 EHDAA2:0001747 EMAPA:17991 galen:UpperLobeOfRightLung SCTID:361969002 VHOG:0000859" + "The lobe of the right lung that is closest to the head." "MA:0000429 EHDAA:4987 UMLS:C1261074 NCIT:C33023 FMA:7333 EHDAA2:0001747 EMAPA:17991 galen:UpperLobeOfRightLung SCTID:361969002 VHOG:0000859" "The amount of a bone marrow stromal antigen 2 when measured in blood." "PMID:37794183" "Orphanet:98889 GARD:6011 MEDGEN:337000 icd11.foundation:1882677643 UMLS:C1845668 DOID:0080924" "Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY." "MESH:D002539 MEDGEN:2963 DOID:3527 MeSH:D002539 MONDO:0006693 UMLS:C0007774" @@ -29726,7 +29730,7 @@ "Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn." "GARD:2130 UMLS:C4274223 icd11.foundation:1981771784 Orphanet:292 MEDGEN:904399 SCTID:716865000" "OMIM:600512" - "Infections caused by arthropod-borne viruses, general or unspecified." "UMLS:C0003723 MEDGEN:389 DOID:934 MESH:D001102 NCIT:C34396 MONDO:0020731 MeSH:D001102 SCTID:40610006" + "Infections caused by arthropod-borne viruses, general or unspecified." "UMLS:C0003723 DOID:934 MEDGEN:389 MESH:D001102 NCIT:C34396 MONDO:0020731 MeSH:D001102 SCTID:40610006" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a serotonin stimulus." "A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system." "PDBeChem:BNZ PMID:14677922 PMID:15935818 CAS:71-43-2 PMID:23222815 PMID:12857942 PMID:19228219 PMID:6353911 PMID:17373369 PMID:8124204 PMID:11993966 Reaxys:969212 PMID:18407866 HMDB:HMDB0001505 PMID:18836923 PMID:11684179 KEGG:C01407 PMID:18072742 PMID:21325737 PMID:15468289 PMID:23534829 Gmelin:1671 PMID:16161967 PMID:18409691 UM-BBD_compID:c0142 PMID:23088855 Wikipedia:Benzene" "KNApSAcK:C00000186 KEGG:C15791 LIPID_MAPS_instance:LMST01030121 Beilstein:5305497" @@ -31078,7 +31082,7 @@ "A cyclic nonapeptide hormone with amino acid sequence CYIQNCPLG that also acts as a neurotransmitter in the brain; the principal uterine-contracting and milk-ejecting hormone of the posterior pituitary. Together with the neuropeptide vasopressin, it is believed to influence social cognition and behaviour." "PMID:11134819 PMID:19369205 DrugBank:DB00107 PMID:10027619 PMID:19104313 KEGG:D00089 Wikipedia:Oxytocin HMDB:HMDB0002865 Patent:US2938891 PMID:25209411 PMID:24706799 PMID:13305558 PMID:18593851 PMID:10949083 PMID:10949750 KEGG:C00746 Beilstein:3586108 Drug_Central:2042 CAS:50-56-6 Patent:US3076797 PMID:32509991 PMID:19482229 PMID:32683141 PMID:15815422 PMID:32979349 PMID:18988842 PMID:33192340 PMID:10834934 PMID:10983343" "NCIt:C117206" - "A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." "MONDO:0005087 ICD9:508.8 ICD9:508 ICD10:J98 ICD9:460-519.99 UMLS:C0035204 ICD9:519.1 ICD9:517 NCIt:C26871 ICD10:J99 ICD10:J06 ICD9:516.8 DOID:1579 ICD9:519.3 ICD9:510-519.99 SNOMEDCT:50043002 ICD9:V12.60 SCTID:50043002 ICD9:508.1 ICD10CM:J00-J99 MEDGEN:48421 ICD9:516.9 ICD10:J39 ICD9:517.8 NANDO:1100010 ICD10:J63 ICD9:519 NCIT:C26871 ICD9:519.8 MESH:D012140 ICD9:519.9 ICD9:503 ICD9:516 ICD9:V47.2 ICD9:508.9 ICD9:500-508.99 ICD10:J34" + "A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." "MONDO:0005087 ICD9:508.8 ICD9:508 ICD10:J98 ICD9:460-519.99 UMLS:C0035204 ICD9:519.1 ICD9:517 NCIt:C26871 ICD10:J99 ICD10:J06 ICD9:516.8 DOID:1579 ICD9:519.3 ICD9:510-519.99 SNOMEDCT:50043002 ICD9:V12.60 SCTID:50043002 ICD10CM:J00-J99 ICD9:508.1 MEDGEN:48421 ICD9:516.9 ICD10:J39 ICD9:517.8 NANDO:1100010 ICD10:J63 ICD9:519 NCIT:C26871 ICD9:519.8 MESH:D012140 ICD9:519.9 ICD9:503 ICD9:516 ICD9:V47.2 ICD9:508.9 ICD9:500-508.99 ICD10:J34" "UMLS:C0751490 OMIM:268800 ICD10:E75.0" "quantification of the amount of dihomo-gamma-linoleic acid in a sample" "A retinoic acid that is all-trans-retinoic acid in which the double bond which is alpha,beta- to the carboxy group is isomerised to Z configuration. A synthetic retinoid, it is used for the treatment of severe cases of acne and other skin diseases." "PMID:20482692 PMID:11866680 NCIt:C603 HMDB:HMDB0006219 KEGG:D00348 Patent:EP111325 CAS:4759-48-2 Patent:US4556518 Wikipedia:Isotretinoin Drug_Central:1508 LIPID_MAPS_instance:LMPR01090021 PMID:18077132 DrugBank:DB00982 MeSH:D015474 SNOMEDCT:387208003 PMID:23676507 SNOMEDCT:38314008 PMID:11606947 PMID:18788179 PMID:15304471 PMID:19568610 PMID:9807973 Reaxys:1885770" @@ -32082,7 +32086,7 @@ "A state in which attention is largely directed outward from the self." "MeSH:D005120" "high-throughput NextGen sequencing method for harnessing high-copy transposons" "PMID:24194867" - "An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." "EFO:0006460 ICD10:C56 Orphanet:213504 DOID:3713 UMLS:C0948216 GARD:20466 NCIT:C7700 MONDO:0002752 MEDGEN:181757 MedDRA:10051938" + "An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." "EFO:0006460 ICD10:C56 Orphanet:213504 UMLS:C0948216 DOID:3713 GARD:20466 NCIT:C7700 MONDO:0002752 MEDGEN:181757 MedDRA:10051938" "Orphanet:391711" "Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia." "SNOMEDCT:14447001 SCTID:14447001 DOID:2785 MESH:D003616 NANDO:2200821 MeSH:D003616 MEDGEN:4150 OMIM:220200 GARD:6242 icd11.foundation:993088960 Orphanet:217 MedDRA:10048411 NORD:1032 MONDO:0009072 UMLS:C0010964 NCIT:C75012" @@ -32914,7 +32918,7 @@ "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects." "UMLS:C1856095 Orphanet:2167 GARD:2728 MEDGEN:344650 MESH:C535327 OMIM:236110 DOID:0060566" - "A cardiovascular drug that prevents atherogenesis, the accumulation of lipid-containing plaques on the innermost layers of the arteries. Compare with antiatherosclerotic agent." "PMID:20222342 PMID:16366593 PMID:3288054 PMID:14592471 PMID:9796331 PMID:21172387 PMID:17990280 PMID:21074432 PMID:21649483" + "A cardiovascular drug that prevents atherogenesis, the accumulation of lipid-containing plaques on the innermost layers of the arteries. Compare with antiatherosclerotic agent." "PMID:16366593 PMID:3288054 PMID:14592471 PMID:9796331 PMID:21172387 PMID:17990280 PMID:21074432 PMID:21649483 PMID:20222342" "A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." "MEDGEN:226981 UMLS:C1301355 DOID:4972 MONDO:0006311 NCIT:C27262 ONCOTREE:MDS%2FMPN EFO:1000388 SCTID:445738007 ICDO:9975/3 MESH:D054437" @@ -35082,7 +35086,7 @@ "A material sample derived from cells or tissue representing an observed or suspected physiologically, genomically or phenotypically abnormal state." "SNOMEDCT:27716002 NCIt:C86484" - "Odontoid tissue that is deposited by cementoblasts onto dentine tissue and functions to attach teeth, odontodes and other odontogenic derivatives to bone tissue and the integument." "MA:0002541 Wikipedia:Cementum BTO:0002525 NCIT:C32276 UMLS:C0011343 EMAPA:35203 SCTID:362114003 XAO:0004196 VSAO:0000062 CALOHA:TS-2163 MESH:D003739 FMA:55630" + "Odontoid tissue that is deposited by cementoblasts onto dentine tissue and functions to attach teeth, odontodes and other odontogenic derivatives to bone tissue and the integument." "Wikipedia:Cementum BTO:0002525 NCIT:C32276 UMLS:C0011343 EMAPA:35203 SCTID:362114003 XAO:0004196 VSAO:0000062 CALOHA:TS-2163 MESH:D003739 FMA:55630 MA:0002541" "m6A-specific methylated RNA immunoprecipitation (M6A-RIP)" "PMID:25456834" "Quantification of one or more antibodies to the hepatitis B virus anitgen in a sample." "PMID:38626723" @@ -35323,7 +35327,7 @@ "Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease." "MEDGEN:3622 DOID:3362 MONDO:0006714 HP:0030882 SCTID:50570003 ICD9:414.11 MedDRA:10002348 MeSH:D003323 ICD10:I25.4 SNOMEDCT:50570003 MESH:D003323 UMLS:C0010051" "Orphanet:447977 OMIM:616852 GARD:17779 MEDGEN:905125 UMLS:C4225181" - "Orphanet:500180 DOID:0070474 OMIM:617672 MEDGEN:1626007 GARD:13658 UMLS:C4540086" + "Orphanet:500180 DOID:0070474 OMIM:617672 MEDGEN:1626007 UMLS:C4540086 GARD:13658" "Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys." "GARD:1163 MESH:C537713 Orphanet:1123 UMLS:C2931593 SCTID:726621009 MEDGEN:419843" "OMIM:607831 OMIM:607706 ICD10:G60.0" "genome-wide profiling of gene expression in situ in fixed cells and tissues, in which RNA is converted into cross-linked cDNA amplicons and sequenced manually on a confocal microscope" "PMID:25675209" @@ -37692,7 +37696,7 @@ "Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene." "UMLS:C2677434 OMIM:600625 MEDGEN:436944 DOID:0080404 GARD:18303" - "A purine arabinonucleoside monophosphate having 2-fluoroadenine as the nucleobase. A prodrug, it is rapidly dephosphorylated to 2-fluoro-ara-A and then phosphorylated intracellularly by deoxycytidine kinase to the active triphosphate, 2-fluoro-ara-ATP. Once incorporated into DNA, 2-fluoro-ara-ATP functions as a DNA chain terminator. It is used for the treatment of adult patients with B-cell chronic lymphocytic leukemia (CLL) who have not responded to, or whose disease has progressed during, treatment with at least one standard alkylating-agent containing regimenas." "KEGG:D01907 PMID:20215092 CiteXplore:20215092 \"PubMed citation\" CiteXplore:20467451 \"PubMed citation\" CiteXplore:21736869 \"PubMed citation\" Drug_Central:1189 PMID:20467451 CiteXplore:19915381 \"PubMed citation\" PMID:8528057 CiteXplore:21296675 \"PubMed citation\" CAS:75607-67-9 CiteXplore:21909959 \"PubMed citation\" CiteXplore:21725721 \"PubMed citation\" CiteXplore:19862681 \"PubMed citation\" DrugBank:DB01073 Patent:WO2010133629 PMID:19283354 PMID:10720130 SNOMEDCT:108765002 PMID:8651523 PMID:21725721 Reaxys:8167686 \"Reaxys Registry Number\" NCIt:C1102 CiteXplore:19567212 \"PubMed citation\" PMID:20514405 Patent:WO2010133629 \"Patent\" Patent:WO2010046917 \"Patent\" PMID:20686506 CiteXplore:20514405 \"PubMed citation\" PMID:21909959 Patent:WO2010046917 Reaxys:8167686 ChemIDplus:75607-67-9 \"CAS Registry Number\" KEGG DRUG:75607-67-9 \"CAS Registry Number\" PMID:21296675 MeSH:C042382 CiteXplore:19283354 \"PubMed citation\" Wikipedia:Fludarabine \"Wikipedia\" PMID:19915381 KEGG DRUG:D01907 \"KEGG DRUG\" PMID:19567212 PMID:21736869 Wikipedia:Fludarabine PMID:19862681 CiteXplore:20686506 \"PubMed citation\" DrugBank:DB01073 \"DrugBank\" PMID:8204523" + "A purine arabinonucleoside monophosphate having 2-fluoroadenine as the nucleobase. A prodrug, it is rapidly dephosphorylated to 2-fluoro-ara-A and then phosphorylated intracellularly by deoxycytidine kinase to the active triphosphate, 2-fluoro-ara-ATP. Once incorporated into DNA, 2-fluoro-ara-ATP functions as a DNA chain terminator. It is used for the treatment of adult patients with B-cell chronic lymphocytic leukemia (CLL) who have not responded to, or whose disease has progressed during, treatment with at least one standard alkylating-agent containing regimenas." "KEGG:D01907 PMID:20215092 CiteXplore:20215092 \"PubMed citation\" CiteXplore:20467451 \"PubMed citation\" CiteXplore:21736869 \"PubMed citation\" Drug_Central:1189 PMID:20467451 CiteXplore:19915381 \"PubMed citation\" PMID:8528057 CiteXplore:21909959 \"PubMed citation\" CiteXplore:21296675 \"PubMed citation\" CAS:75607-67-9 CiteXplore:21725721 \"PubMed citation\" CiteXplore:19862681 \"PubMed citation\" DrugBank:DB01073 Patent:WO2010133629 PMID:19283354 PMID:10720130 SNOMEDCT:108765002 PMID:8651523 PMID:21725721 Reaxys:8167686 \"Reaxys Registry Number\" NCIt:C1102 CiteXplore:19567212 \"PubMed citation\" PMID:20514405 Patent:WO2010133629 \"Patent\" Patent:WO2010046917 \"Patent\" PMID:20686506 CiteXplore:20514405 \"PubMed citation\" PMID:21909959 Patent:WO2010046917 Reaxys:8167686 ChemIDplus:75607-67-9 \"CAS Registry Number\" KEGG DRUG:75607-67-9 \"CAS Registry Number\" PMID:21296675 MeSH:C042382 CiteXplore:19283354 \"PubMed citation\" Wikipedia:Fludarabine \"Wikipedia\" PMID:19915381 KEGG DRUG:D01907 \"KEGG DRUG\" PMID:19567212 PMID:21736869 Wikipedia:Fludarabine PMID:19862681 CiteXplore:20686506 \"PubMed citation\" DrugBank:DB01073 \"DrugBank\" PMID:8204523" "OMIM:300431 ICD10:Q87.8 UMLS:C0796206" "A member of the class of guanidines that is biguanide the carrying two methyl substituents at position 1." "FooDB:FDB022739 KEGG COMPOUND:657-24-9 KEGG:C07151 Wikipedia:Metformin PMID:18608522 PMID:18212742 PMID:16941277 PMID:12436333 PMID:11126815 PMID:31208831 PMID:16520442 PMID:12909816 KEGG:D04966 SNOMEDCT:372567009 PMID:11544610 Reaxys:606492 PMID:10983737 PMID:10900588 PMID:23540700 PMID:11192132 PMID:23077661 PMID:11012555 PMID:15650645 PMID:11257323 SNOMEDCT:109081006 PMID:15261814 KEGG COMPOUND:C07151 PMID:24428821 LINCS:LSM-4730 PMID:12406042 PDBeChem:MF8 PMID:11772907 DrugBank:DB00331 CAS:657-24-9 PMID:17062558 ChemIDplus:657-24-9 PMID:16294070 Drug_Central:1725 PMID:12630933 PMID:15932841 PMID:15606381 PMID:10999803 PMID:15717887 MeSH:D008687 NCIt:C61612 HMDB:HMDB0001921 PMID:28919040 PMID:12086935 PMID:33191721" "MEDGEN:858243 OMIM:620443 UMLS:C3898649 DOID:0081373" @@ -37962,11 +37966,11 @@ "Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular etiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities." "MEDGEN:220981 Orphanet:542 UMLS:C1302772 NCIT:C7162 MedDRA:10051708 GARD:18698 SCTID:400001003" "GARD:17115 NANDO:1200536 Orphanet:216873 MEDGEN:1800044 UMLS:C5568621" - "A disease involving the basal ganglia." "CSP:2057-3403 SCTID:70835005 UMLS:C4520981 UMLS:C0004782 ICD10:G23 DOID:679 MESH:D001480 MONDO:0003996 ICD9:333.0 MEDGEN:1619147 MeSH:D001480" + "A disease involving the basal ganglia." "CSP:2057-3403 SCTID:70835005 UMLS:C4520981 UMLS:C0004782 ICD10:G23 DOID:679 MESH:D001480 ICD9:333.0 MONDO:0003996 MEDGEN:1619147 MeSH:D001480" "Quantification of uridine diphosphate glucose levels in a sample." "PMID:23823483" "The amount of a glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 when measured in blood serum." - "Inflammation of the pancreas." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 MEDGEN:14586 NCIt:C3306 MedDRA:10033645 SCTID:75694006 MESH:D010195" + "Inflammation of the pancreas." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 NCIt:C3306 MEDGEN:14586 MedDRA:10033645 SCTID:75694006 MESH:D010195" "A disease involving the pituitary gland." "MONDO:0003381 ICD9:253.8 ICD9:253.1 ICD9:253.9 MESH:D010900 NCIT:C26854 MEDGEN:45934 UMLS:C0032002 DOID:53 SCTID:399244003 ICD10:E23" "The amount of a carbohydrate sulfotransferase 10 when measured in blood serum." @@ -38319,7 +38323,7 @@ "A chemical treatment (EO:0007189) involving the application of inorganic chemical(s)." "The tumorigenic KS IMM cell line derives from Kaposi's sarcoma (KS), a highly angiogenic tumor." "BTO:0002070" "An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot." "UMLS:C1846821 UMLS:C0005779 SNOMEDCT_US:64779008 UMLS:C0019087 SNOMEDCT_US:362970003" - "A melanoma arising from and extending beyond the structures of the eye." "EFO:1000404 UMLS:C0278869 NCIT:C7913 MONDO:0006326 MEDGEN:75884" + "A melanoma arising from and extending beyond the structures of the eye." "EFO:1000404 UMLS:C0278869 NCIT:C7913 MEDGEN:75884 MONDO:0006326" "Quantification of one or more antibodies to the Epstein-Barr virus, typically in serum" "PMID:29868224" "A megalencephaly (disease) that is not part of a larger syndrome." "Orphanet:268920 GARD:20977" @@ -38814,7 +38818,7 @@ "MEDGEN:477069 UMLS:C3275438 OMIM:300847" - "The portion of the hindlimb that contains both the stylopod and zeugopod." "EHDAA2:0000972 CALOHA:TS-2206 EHDAA:6176 GAID:49 MA:0000047 EHDAA:8289 EFO:0001411 Wikipedia:Leg#Limb EMAPA:17489 BTO:0000721 MESH:D035002 EHDAA:5151 VHOG:0000345" + "The portion of the hindlimb that contains both the stylopod and zeugopod." "EHDAA2:0000972 CALOHA:TS-2206 EHDAA:6176 GAID:49 MA:0000047 EHDAA:8289 EFO:0001411 Wikipedia:Leg#Limb EMAPA:17489 BTO:0000721 EHDAA:5151 MESH:D035002 VHOG:0000345" "Human Ataxia telangiectasia fibroblast cell line SV40 transformed." "RRID:CVCL_7442 CLO:0024705" "A 1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile that has S-configuration at the chiral centre. It is the active enantiomer of citalopram." "PMID:16266205 PMID:18789789 PMID:16937393 PMID:24172161 PMID:24528284 PMID:34406668 PMID:24424469 PMID:20825390 PMID:14594439 PMID:15200745 PMID:24289655 PMID:24176515 DrugBank:DB01175 Drug_Central:1053 PMID:24469525 Wikipedia:Escitalopram PMID:15609164 KEGG:D07913 HMDB:HMDB0005028 LINCS:LSM-3569 PMID:19710642 Beilstein:9001444 PMID:16953656 PMID:16421462 PMID:14501259 CAS:128196-01-0 PMID:14708881" "The amount of a killer cell immunoglobulin-like receptor 2DL3 when measured in blood." "PMID:37794183" @@ -39271,7 +39275,7 @@ "Orphanet:309331 NANDO:2201238 GARD:10871 MEDGEN:1843217 UMLS:C5681076 NANDO:1200148" "L1-S8R is a human iPSC line derived from L1-S8 after transduction with lentiviral vector pLM-fSV2A (Papapetrou et al NBT 2011) expressing OCT4, SOX2, KLF4 and cMYC." "The amount of a L-asparaginase when measured in blood." "PMID:37794183" - "High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." "UMLS:C5200982 ICD10CM:D07.5 UMLS:C0154088 MONDO:0006234 COHD:200970 DOID:8634 SCTID:92691004 EFO:1000283 NCIT:C3642 MEDGEN:1684800 ICD10:D07.5 ICD9:233.4" + "High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." "UMLS:C5200982 ICD10CM:D07.5 UMLS:C0154088 MONDO:0006234 COHD:200970 DOID:8634 SCTID:92691004 EFO:1000283 NCIT:C3642 ICD10:D07.5 MEDGEN:1684800 ICD9:233.4" "The amount of a thiosulfate sulfurtransferase when measured in blood serum." "An assay in which T cells are incubated with a culture media containing an activator agent (such as Dynabeads Human T-Activator CD3/CD28), mimicking the natural activation and expansion process." @@ -39818,7 +39822,7 @@ "MEDGEN:199669 UMLS:C0751490 Orphanet:309155 GARD:7604 SCTID:238018004" "Quantification of the amount of X-15503 in a sample." "PMID:35347128" - "From the posterior wall of the saccule a canal, the ductus endolymphaticus, is given off; this duct is joined by the ductus utriculosaccularis, and then passes along the aquaeductus vestibuli and ends in a blind pouch, the endolymphatic sac, on the posterior surface of the petrous portion of the temporal bone, where it is in contact with the dura mater. Studies suggest that the endolymphatic duct and endolymphatic sac perform both absorptive and secretory, as well as phagocytic and immunodefensive,functions . [WP,unvetted]." "FMA:75639 EMAPA:17593 VHOG:0000791 SCTID:279810008 EHDAA2:0000441 AAO:0000551 MA:0001188 GAID:887 EHDAA:7761 MESH:D004712 Wikipedia:Endolymphatic_sac" + "From the posterior wall of the saccule a canal, the ductus endolymphaticus, is given off; this duct is joined by the ductus utriculosaccularis, and then passes along the aquaeductus vestibuli and ends in a blind pouch, the endolymphatic sac, on the posterior surface of the petrous portion of the temporal bone, where it is in contact with the dura mater. Studies suggest that the endolymphatic duct and endolymphatic sac perform both absorptive and secretory, as well as phagocytic and immunodefensive,functions . [WP,unvetted]." "FMA:75639 EMAPA:17593 VHOG:0000791 SCTID:279810008 AAO:0000551 EHDAA2:0000441 MA:0001188 GAID:887 EHDAA:7761 MESH:D004712 Wikipedia:Endolymphatic_sac" "A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy." "ICD10:Q73.8 MeSH:C535687 MedDRA:10084326 OMIM:268300 UMLS:C0392475 OMIM:269000" "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" @@ -40331,6 +40335,7 @@ "Quantification of desmin in a sample." "PMID:29875488" "A function is an entity which is an essentially end-directed activity of a material entity in virtue of that entity being a specific kind of entity in the kind or kinds of contexts that it is made for. For example," "NCIt:C25518 BFO:function SNOMEDCT:246464006 SNOMEDCT:277064003" + "A trait that affects the response to a stimulus with gabapentin." "Well-differentiated human squamous carcinoma cell line (LICR-LON-HN5)" "RRID:CVCL_8128" "The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976." "SNOMEDCT:438106009" @@ -41108,7 +41113,7 @@ "A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood." "NCIT:C131632 UMLS:C0015519 SCTID:76642003 MESH:D005171 NANDO:2200678 MEDGEN:4635" "A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "UMLS:C1335994 DOID:6880 MEDGEN:234788 NCIT:C5336" "The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes." "UMLS:C0011603 SNOMEDCT_US:703938007 MP:0004947 UMLS:C3875321" - "Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form." "ZFA:0000279 TAO:0000279 VHOG:0000559 XAO:0000057 EMAPA:16752 AAO:0011086 EMAPA:16189 EFO:0001982" + "Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form." "ZFA:0000279 TAO:0000279 VHOG:0000559 XAO:0000057 AAO:0011086 EMAPA:16752 EMAPA:16189 EFO:0001982" "The amount of a thymosin beta-10 when measured in blood." "PMID:37794183" "A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." "NCIT:C5554 Orphanet:424002 GARD:21770 SCTID:766979005 UMLS:C1335690 DOID:5528 MEDGEN:235534" "Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia." "MEDGEN:336493 OMIM:271320 MESH:C536989 GARD:3795 Orphanet:2572 SCTID:715465001 UMLS:C1849085" @@ -44191,7 +44196,7 @@ "OMIMPS:616263" "A sex cord-stromal tumor arising from the ovary, without metastatic potential." "MEDGEN:231435 NCIT:C6803 UMLS:C1332528 DOID:0080370" "The amount of a carboxymethylenebutenolidase when measured in blood serum." - "Mycobacterium infections of the female reproductive tract (genitalia, female)." "MESH:D014384 SCTID:74181004 MedDRA:10061150 DOID:13175 MEDGEN:546958 SNOMEDCT:74181004 UMLS:C0275931 MeSH:D014384 MONDO:0006758" + "Mycobacterium infections of the female reproductive tract (genitalia, female)." "MONDO:0006758 MESH:D014384 SCTID:74181004 MedDRA:10061150 DOID:13175 MEDGEN:546958 SNOMEDCT:74181004 UMLS:C0275931 MeSH:D014384" "ICD10:Q93.5" "The amount of a pterin-4-alpha-carbinolamine dehydratase 2 when measured in blood serum." "The amount of a isovaleryl-CoA dehydrogenase, mitochondrial when measured in blood." "PMID:37794183" @@ -44597,7 +44602,7 @@ "NCIt:C86544 MeSH:D009166 SNOMEDCT:58242002" "A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma." "ONCOTREE:UEC icd11.foundation:671511103 NCIT:C6287 MONDO:0006192 EFO:1000233 MEDGEN:234467 UMLS:C1336905" "A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults." "ICDO:9424/3 GARD:10631 Orphanet:251607 MEDGEN:137786 UMLS:C0334586 ONCOTREE:PXA DOID:4852 NCIT:C4323" - "The hip region is located lateral to the gluteal region (i.e. the buttock), inferior to the iliac crest, and overlying the greater trochanter of the thigh bone. In adults, three of the bones of the pelvis have fused into the hip bone which forms part of the hip region. The hip joint, scientifically referred to as the acetabulofemoral joint (art. coxae), is the joint between the femur and acetabulum of the pelvis and its primary function is to support the weight of the body in both static (e.g. standing) and dynamic (e.g. walking or running) postures. [WP,modified]." "NCIT:C64193 UMLS:C0019552 EHDAA2:0000783 VHOG:0000346 EHDAA:5153 BTO:0001457 EMAPA:17490 MA:0000045 galen:Hip EFO:0001929 SCTID:302543008 EHDAA:6178 FMA:24964 MESH:D006615 CALOHA:TS-2226 Wikipedia:Hip GAID:47" + "The hip region is located lateral to the gluteal region (i.e. the buttock), inferior to the iliac crest, and overlying the greater trochanter of the thigh bone. In adults, three of the bones of the pelvis have fused into the hip bone which forms part of the hip region. The hip joint, scientifically referred to as the acetabulofemoral joint (art. coxae), is the joint between the femur and acetabulum of the pelvis and its primary function is to support the weight of the body in both static (e.g. standing) and dynamic (e.g. walking or running) postures. [WP,modified]." "NCIT:C64193 UMLS:C0019552 EHDAA2:0000783 VHOG:0000346 EHDAA:5153 BTO:0001457 EMAPA:17490 galen:Hip MA:0000045 EFO:0001929 SCTID:302543008 EHDAA:6178 FMA:24964 MESH:D006615 CALOHA:TS-2226 Wikipedia:Hip GAID:47" "An octadecatetraenoic acid having four double bonds located at positions 6, 9, 12 and 15 (the all-cis-isomer). It has been isolated from Lithospermum officinale and fish oils." "HMDB:HMDB0006547 Reaxys:1712973 KEGG:C16300 LIPID_MAPS_instance:LMFA01030357 Wikipedia:Stearidonic_acid PMID:23932357 MetaCyc:CPD-12653 KNApSAcK:C00000405 CAS:20290-75-9 Patent:CA2827585 PMID:24553695 Patent:KR20130045846" "The amount of a TraB domain-containing protein when measured in blood serum." @@ -46025,7 +46030,7 @@ "A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3’ end are purified." "The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid)." - "A paired organ of the urinary tract that produces urine and maintains bodily fluid homeostasis, blood pressure, pH levels, red blood cell production and skeleton mineralization." "BTO:0000671 UMLS:C0022646 galen:Kidney MIAA:0000119 XAO:0003267 MESH:D007668 CALOHA:TS-0510 Wikipedia:Kidney GAID:423 MAT:0000119 AAO:0000250" + "A paired organ of the urinary tract that produces urine and maintains bodily fluid homeostasis, blood pressure, pH levels, red blood cell production and skeleton mineralization." "BTO:0000671 UMLS:C0022646 MIAA:0000119 galen:Kidney XAO:0003267 MESH:D007668 CALOHA:TS-0510 Wikipedia:Kidney GAID:423 MAT:0000119 AAO:0000250" "A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas)." "UMLS:C1333799 MESH:C535650 MEDGEN:232237 Orphanet:100092 NCIT:C27721 GARD:2437" "An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." "SCTID:6655004 ICD9:464.0 ICD10CM:J04.0 DOID:9396 MEDGEN:1317 icd11.foundation:1180710837 NCIT:C26688 ICD9:464.01 UMLS:C0001327 ICD9:464.00" @@ -46368,7 +46373,7 @@ "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 24 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 16 HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 8" "The amount of a DNA-directed RNA polymerase II subunit GRINL1A when measured in blood serum." "Quantification of the amount of N1-acetylspermidine in a sample." "PMID:35995766" - "The part of the retina that contains neurons and photoreceptor cells[GO]." "EMAPA:17171 EHDAA:4763 EHDAA2:0001253 AAO:0011095 MA:0000277 TAO:0000046 VHOG:0000535 FMA:58628 CALOHA:TS-0685 XAO:0003216 NCIT:C33166 EMAPA:18590 BTO:0000929 ZFA:0000046 UMLS:C1518263" + "The part of the retina that contains neurons and photoreceptor cells[GO]." "UMLS:C1518263 EMAPA:17171 EHDAA:4763 EHDAA2:0001253 AAO:0011095 MA:0000277 TAO:0000046 VHOG:0000535 FMA:58628 CALOHA:TS-0685 XAO:0003216 NCIT:C33166 EMAPA:18590 BTO:0000929 ZFA:0000046" "Orphanet:369873 GARD:21580 UMLS:C5191050 MEDGEN:1680592" "Human skin malignant melanoma cells that can be ordered from ATCC. This is a hyperdiploid human cell line with the modal chromosome number of 49, occurring in 24% of cells. Polyploid cells occurred at 22%, which is high. Cells are adherent, and were first harvested in 1971 from a metastatic site in a lymph node." "CLO:0008877 RRID:CVCL_1666 BTO:0003508" @@ -46627,7 +46632,7 @@ "A partial dislocation of a joint." "Quantification of NAD kinase in a sample." "PMID:29875488" "A medium-chain fatty acid anion that is the conjugate base of heptanoic acid; shown in myocardial ischaemia/reperfusion studies to increase levels of C4 Kreb's cycle intermediates." "Reaxys:3903940 MetaCyc:CPD-7619 Gmelin:327115 CAS:7563-37-3 PMID:16141384" - "A disease involving the prostate gland. [ MONDO:DesignPattern ]" "ICD9:602.8 MEDGEN:10964 ICD9:602.9 ICD10:N42 UMLS:C0033575 DOID:47 MESH:D011469 NCIT:C26865 SCTID:30281009 MONDO:0003105" + "A disease involving the prostate gland. [ MONDO:DesignPattern ]" "ICD9:602.8 MEDGEN:10964 ICD9:602.9 ICD10:N42 UMLS:C0033575 DOID:47 MESH:D011469 SCTID:30281009 NCIT:C26865 MONDO:0003105" "The amount of a beta-defensin 103 when measured in blood serum." "An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi." "UMLS:C0596773 ICD9:323.4 MESH:D000069544 SCTID:312215006 ICD9:049.8 MEDGEN:108917 NCIT:C79550" @@ -47427,7 +47432,7 @@ "OMIM:617711 MEDGEN:1626137 UMLS:C4540199 DOID:0080472" "The determination of the amount of adenylosuccinate lyase in a sample" "PMID:28240269" - "Patent:US4879288 MeSH:C069541 DrugBank:DB01224 NCIt:C61917 KEGG:C07397 CAS:111974-69-7 KEGG:D08456 SNOMEDCT:386850001 SNOMEDCT:108443001 LINCS:LSM-3543 Patent:EP240228 Drug_Central:2337 Wikipedia:Quetiapine" + "Patent:US4879288 MeSH:C069541 DrugBank:DB01224 NCIt:C61917 KEGG:C07397 CAS:111974-69-7 KEGG:D08456 SNOMEDCT:108443001 LINCS:LSM-3543 SNOMEDCT:386850001 Patent:EP240228 Drug_Central:2337 Wikipedia:Quetiapine" "Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients." "NANDO:2200405 SCTID:30664006 NORD:1466 MEDGEN:9957 NCIT:C3225 UMLS:C0025267 ICD9:237.4 OMIM:131100 ICD9:258.01 icd11.foundation:1638765741 GARD:3829 DOID:10017 MESH:D018761 MedDRA:10028190 Orphanet:652" "Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis." "UMLS:C4329304 MEDGEN:1383362 NCIT:C131630" "A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps)." "NCIT:C3954 MESH:C562464 UMLS:C0236048 SCTID:87252009 MEDGEN:68629" @@ -47532,7 +47537,7 @@ "An autosomal recessive muscular disorder characterized by infantile onset of progressive muscular atrophy, hypotonia, ptosis, scoliosis and dysmorphic facial features. Disease severity is variable, ranging from mild to severe." "OMIM:618578" "The quantification of sphingomyelin 16:1 levels in a sample." "PMID:23823483" "The amount of a three prime repair exonuclease 2 when measured in blood serum." - "A viral infection that is transmitted by an arthropod." "UMLS:C0003723 MEDGEN:389 DOID:934 MESH:D001102 NCIT:C34396 MONDO:0020731 MeSH:D001102 SCTID:40610006" + "A viral infection that is transmitted by an arthropod." "UMLS:C0003723 DOID:934 MEDGEN:389 MESH:D001102 NCIT:C34396 MONDO:0020731 MeSH:D001102 SCTID:40610006" "A carbobicyclic compound that is prostaglandin I2 in which the endocyclic oxygen is replaced by a methylene group and in which the (1E,3S)-3-hydroxyoct-1-en-1-yl side chain is replaced by a (3R)-3-hydroxy-4-methyloct-1-en-6-yn-1-yl group. A synthetic analogue of prostacyclin, it is used as the trometamol salt (generally by intravenous infusion) for the treatment of peripheral vascular disease and pulmonary hypertension." "ChEMBL:107494 NCIt:C48397 KEGG DRUG:D02721 PMID:15241524 CiteXplore:15241524 Wikipedia:Iloprost KEGG:D02721 CiteXplore:14719835 SNOMEDCT:319452005 Patent:DE2845770 CAS:78919-13-8 DrugBank:DB01088 KEGG DRUG:78919-13-8 PMID:14719835 CiteXplore:19436672 Reaxys:4329060 PMID:15232651 SNOMEDCT:395740002 MeSH:D016285 Patent:US4692464 Drug_Central:1422 PMID:19436672 CiteXplore:15232651" "Quantification of leucine-rich repeat transmembrane neuronal protein 2 in a sample." "PMID:29875488" "A tumor (abnormal growth of tissue) of the respiratory system." "ICD10CM:C30-C39 SCTID:126667002 MONDO:0020641 MeSH:D012142 NCIt:C3355 HP:0100606 ICD10:D38 NCIT:C3355 ICD10:D14 MEDGEN:11200 UMLS:C0035244 MESH:D012142" @@ -48612,7 +48617,7 @@ "The amount of a Phosphatidylcholine (18:1_18:2) when measured in blood serum." "Quantification of the amount of N-acetylkynurenine (2) in a sample." "PMID:35347128" - "An ether compound having fluoromethyl and 1,1,1,3,3,3-hexafluoroisopropyl as the two alkyl groups." "KEGG:D00547 DrugBank:DB01236 SNOMEDCT:108395008 NCIt:C47717 Patent:DE1954268 CAS:28523-86-6 MeSH:C009250 Beilstein:2041023 Patent:US3689571 KEGG:C07520 Drug_Central:2439 SNOMEDCT:386842005 Wikipedia:Sevoflurane" + "An ether compound having fluoromethyl and 1,1,1,3,3,3-hexafluoroisopropyl as the two alkyl groups." "KEGG:D00547 DrugBank:DB01236 Wikipedia:Sevoflurane SNOMEDCT:108395008 NCIt:C47717 Patent:DE1954268 CAS:28523-86-6 MeSH:C009250 Beilstein:2041023 Patent:US3689571 KEGG:C07520 Drug_Central:2439 SNOMEDCT:386842005" "Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)" "DOID:8619 SCTID:426451004 MEDGEN:155520 ICD9:327.13 ICD10CM:G47.13 UMLS:C0751226" "Quantification of neuropeptide W in a sample." "PMID:29875488" "The amount of a growth/differentiation factor 3 when measured in blood serum." @@ -48827,7 +48832,7 @@ "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." "MEDGEN:331297 DOID:0110543 OMIM:601317 GARD:18104 MESH:C563353 UMLS:C1832475" "A lysophosphatidylcholine 18:1 in which the acyl group is specified as oleoyl and is located at position 2." "Reaxys:9025730 HMDB:HMDB0061701 LIPID_MAPS_instance:LMGP01050082" - "Section of colon which is distal to the cecum and proximal to the transversecolon.[FMA,modified]." "MESH:D044682 FMA:14545 galen:AscendingColon EMAPA:35151 CALOHA:TS-0057 MA:0001541 EFO:0000843 MAT:0000311 MIAA:0000311 SCTID:362162009 Wikipedia:Ascending_colon BTO:0000270 NCIT:C12265 UMLS:C0227375" + "Section of colon which is distal to the cecum and proximal to the transversecolon.[FMA,modified]." "MESH:D044682 FMA:14545 galen:AscendingColon CALOHA:TS-0057 EMAPA:35151 MA:0001541 EFO:0000843 MAT:0000311 MIAA:0000311 SCTID:362162009 Wikipedia:Ascending_colon BTO:0000270 NCIT:C12265 UMLS:C0227375" "An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1)." "MedDRA:10026667 ONCOTREE:MPNST NCIt:C3798 MONDO:0017827 ICDO:9540/3 MeSH:D018317 icd11.foundation:71413945 DOID:5940 MEDGEN:155614 MedDRA:10029236 GARD:10872 SNOMEDCT:19897006 ICD9:171.9 MeSH:D018319 SNOMEDCT:404037002 NCIT:C3798 NANDO:2200102 ICDO:9560/3 UMLS:C0751690 Orphanet:3148 SCTID:404037002" "Quantification of tropomodulin-1 in a sample." "PMID:29875488" @@ -48886,7 +48891,7 @@ "OBSOLETE. An instance of hair anomaly that is caused by a modification of the individual's genome." "Orphanet:183450" "Quantification of the ratio of L-Serine to 3-Indolepropionic acid ratio in a sample." "PMID:33634981" "A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia." "OMIM:278000 UMLS:C0008384 Orphanet:75234 NORD:929 SCTID:57218003 NANDO:2201233 icd11.foundation:894336362 NANDO:1200144 MEDGEN:40266 GARD:12099 DOID:14502" - "Inflammation of the renal pelvis." "MEDGEN:48268 MedDRA:10037586 NCIT:C34964 MONDO:0006938 SCTID:27174002 UMLS:C0034183 MESH:D011702 DOID:2744 NCIt:C34964 MeSH:D011702 MedDRA:10037584 SNOMEDCT:27174002" + "Inflammation of the renal pelvis." "MEDGEN:48268 MedDRA:10037586 NCIT:C34964 MONDO:0006938 SCTID:27174002 UMLS:C0034183 MESH:D011702 DOID:2744 MeSH:D011702 NCIt:C34964 MedDRA:10037584 SNOMEDCT:27174002" "ICD10:N04.0" "Quantification of the amount of 3-methyl-2-oxobutyrate in a sample." "PMID:24816252" "The amount of a C-type lectin domain family 4 member D when measured in blood serum." @@ -49012,7 +49017,7 @@ "The amount of a cyclic AMP-dependent transcription factor ATF-2 when measured in blood." "PMID:37794183" - "A disease involving the central nervous system." "MESH:D002493 DOID:331 UMLS:C4021765 NCIt:C2934 MONDO:0002602 ICD10:G09 MEDGEN:892343 NCIT:C2934 SCTID:23853001" + "A disease involving the central nervous system." "MESH:D002493 DOID:331 UMLS:C4021765 NCIt:C2934 MONDO:0002602 MEDGEN:892343 ICD10:G09 NCIT:C2934 SCTID:23853001" "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." "MedDRA:10073032 UMLS:C0005859 ICD10:Q87.1 OMIM:210900 MeSH:D001816" "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" "Quantification of zinc finger protein 410 in a sample." "PMID:29875488" @@ -49085,7 +49090,7 @@ "Quantification of synaptotagmin-like protein 1 in a sample." "PMID:29875488" "Histiocytic tumors are a heterogeneous group of tumors and tumorlike masses commonly associated with histologically identical extracranial lesions." "Safeguarding an individual from physical and psychological reliance on inhaling and exhaling tobacco smoke, thus preventing health detriments and social dysfunction associated with nicotine addiction." - "A non-metastasizing neoplasm arising from the wall of the colon." "MEDGEN:525 UMLS:C0004991 ICD9:211.3 DOID:235 NCIT:C2894 SCTID:92065004" + "A non-metastasizing neoplasm arising from the wall of the colon." "MEDGEN:525 ICD9:211.3 UMLS:C0004991 DOID:235 NCIT:C2894 SCTID:92065004" "Rat raphe-nuclei derived neuronal cell line." "RRID:CVCL_D261 BTO:0003779" @@ -49337,7 +49342,7 @@ "Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." "OMIM:601707 ICD10:Q87.0" "UMLS:C5680788 MEDGEN:1826175 Orphanet:279911 GARD:21064 NCIT:C7185" "Single-molecule RNA FISH is a method for detecting individual RNA molecules within cells with short fluorescent labelled oligonucleotide probes via fluorescence microscopy." "PMID:18806792 PMID:9554849" - "An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen." "SCTID:118760003 BTO:0001491 XAO:0003034 FMA:7085 EHDAA:512 NCIT:C28287 UMLS:C0042779 MA:0000019 Wikipedia:Viscus EMAPA:16245 AAO:0010386 MESH:D014781 RETIRED_EHDAA2:0002201" + "An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen." "SCTID:118760003 BTO:0001491 XAO:0003034 FMA:7085 EHDAA:512 NCIT:C28287 Wikipedia:Viscus UMLS:C0042779 MA:0000019 EMAPA:16245 AAO:0010386 MESH:D014781 RETIRED_EHDAA2:0002201" "Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." "UMLS:C0795865 SCTID:717049005 MEDGEN:167078 MESH:C538048 GARD:5318 Orphanet:261290" "The amount of a transformer-2 protein homolog beta when measured in blood serum." @@ -51957,7 +51962,7 @@ "The amount of a mucosa-associated lymphoid tissue lymphoma translocation protein 1 when measured in blood serum." "UMLS:C5231404 MEDGEN:1684774 OMIM:618547" - "A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative." "ICD9:709.8 MONDO:0006787 UMLS:C0206672 icd11.foundation:2040265542 DOID:3893 EFO:1000967 NCIT:C3760 MESH:D018251 MEDGEN:61656 MedDRA:10059019 SCTID:254725004 ICDO:8404/0" + "A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative." "ICD9:709.8 MONDO:0006787 UMLS:C0206672 icd11.foundation:2040265542 DOID:3893 EFO:1000967 MESH:D018251 NCIT:C3760 MEDGEN:61656 MedDRA:10059019 SCTID:254725004 ICDO:8404/0" "Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated." "icd11.foundation:20223105 Orphanet:98942 MEDGEN:1643994 UMLS:C4708599 GARD:16875 SCTID:39302008" "A measurement of the number of children born" "Epithelial tube with excretory and osmoregulatory roles connected, via a ureter, to the alimentary canal at the junction of the hindgut and midgut. There are two pairs of Malpighian tubules, the right pair lie at the anterior end of the abdomen, and the left pair at the posterior. Each tubule unites with its partner to form a common ureter which enters the alimentary canal at the junction of the hindgut and midgut (Wessing and Eichelberg, 1978)." "MAT:0000123 BTO:0000810 TGMA:0001038 FBbt:00005786 TADS:0000163 FBbt:00005725" @@ -52165,7 +52170,7 @@ "The amount of a chemokine-like protein TAFA-5 when measured in blood." "PMID:37794183" "quantification of some aspect of the deposition of amyloid proteins in an organ" - "A disorder involving the attachment of a tendon or ligament to a bone" "ICD10:M76 MEDGEN:66909 MONDO:0002183 ICD9:726.90 ICD10:M77 MedDRA:10014910 MESH:D012216 MESH:D000070676 UMLS:C0242490 SCTID:23680005 DOID:204 ICD9:726.9" + "A disorder involving the attachment of a tendon or ligament to a bone" "ICD10:M76 MEDGEN:66909 MONDO:0002183 ICD9:726.90 ICD10:M77 MedDRA:10014910 MESH:D012216 MESH:D000070676 UMLS:C0242490 DOID:204 ICD9:726.9 SCTID:23680005" "OMIM:103470" "Quantification of the amount of O-methylcatechol sulfate in a sample." "PMID:35050183" @@ -52520,7 +52525,7 @@ "Quantification of BRISC complex subunit Abro1 in a sample." "PMID:29875488" "Recurrent episodes of over-eating." "icd11.foundation:1673294767 SCTID:439960005 MONDO:0005582 NCIt:C97162 MedDRA:10004716 MEDGEN:154543 MESH:D002032 NCIT:C97162 UMLS:C0596170" "A cancer involving a oculomotor nerve." "NCIT:C6995 SCTID:93929003 DOID:2816 MEDGEN:195786 UMLS:C0686417" - "A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum." "ZFA:0000124 TAO:0000124 NCIT:C34277 EMAPA:16847 EHDAA2:0000744 BTO:0003391 AAO:0011058 XAO:0003266 EFO:0002577 UMLS:C1514451 EHDAA:973 UMLS:C0734013 EFO:0003428" + "A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum." "ZFA:0000124 TAO:0000124 EMAPA:16847 NCIT:C34277 EHDAA2:0000744 AAO:0011058 BTO:0003391 XAO:0003266 EFO:0002577 UMLS:C1514451 EHDAA:973 UMLS:C0734013 EFO:0003428" "Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)." "DOID:0050463 icd11.foundation:913761638 ICD9:733.29 UMLS:C1861922 SCTID:74928006 OMIM:114290 NORD:884 MEDGEN:354620 GARD:10027 Orphanet:140 MESH:D055036 NCIT:C84609" "OMIM:300537 ICD10:Q79.6" "GARD:18537 OMIM:619125 UMLS:C5436856 MEDGEN:1725501" @@ -55250,7 +55255,7 @@ "The determination of the amount of beta-adrenergic receptor kinase 1 in a sample" "PMID:28240269" "Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." "ICD10:E70.3 OMIM:214500 MeSH:D002609 MedDRA:10008415 ORDO:167 UMLS:C0007965 DOID:2935" - "A benign neoplasm that involves the scrotum." "icd11.foundation:640770928 MEDGEN:102302 ICD10CM:D29.4 ICD9:222.4 UMLS:C0154011 NCIT:C3615 SCTID:92336000" + "A benign neoplasm that involves the scrotum." "icd11.foundation:640770928 MEDGEN:102302 ICD10CM:D29.4 UMLS:C0154011 ICD9:222.4 NCIT:C3615 SCTID:92336000" "SNOMEDCT:443831000124100" "Quantification of orexigenic neuropeptide QRFP in a sample." "PMID:29875488" @@ -55407,7 +55412,7 @@ "Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset." "UMLS:C3890205 NCIt:C119033 MONDO:0019432 GARD:3931 Orphanet:85408 MEDGEN:855549" "The result of a measurement of circulating antibodies specific to a ruminococcaceae antigen." "PMID:37164013" - "A pyridazinone that is pyridazin-3(2H)-one which is substituted at positions 2, 4, and 5 by m-(trifluoromethyl)phenyl, chloro, and methylamino groups, respectively. A pre-emergence herbicide used to control grasses and broad-leafed weeds in a variety of crops. Not approved for use within the European Union." "Patent:US3644355 CAS:27314-13-2 Patent:BE712832 PPDB:486 Pesticides:norflurazon Beilstein:757115 KEGG:C18874 PMID:24936791 PDBeChem:NRF PMID:16659463 PMID:26735720" + "A pyridazinone that is pyridazin-3(2H)-one which is substituted at positions 2, 4, and 5 by m-(trifluoromethyl)phenyl, chloro, and methylamino groups, respectively. A pre-emergence herbicide used to control grasses and broad-leafed weeds in a variety of crops. Not approved for use within the European Union." "CAS:27314-13-2 Patent:BE712832 PPDB:486 Pesticides:norflurazon Beilstein:757115 KEGG:C18874 PMID:24936791 PDBeChem:NRF PMID:16659463 PMID:26735720 Patent:US3644355" "The amount of a iron-sulfur cluster assembly enzyme ISCU when measured in blood serum." "The amount of a phosphomevalonate kinase when measured in blood serum." @@ -55929,7 +55934,7 @@ "Absence or underdevelopment of the thymus." "UMLS:C3278004 UMLS:C4023796" "A femtoliter is a volume unit which is equal to 10^-15 L." "NCIt:C64780 MO:721 SNOMEDCT:258775009" - "A 17-oxo steroid that is androsta-1,4-diene-3,17-dione in which the hydrogens at position 6 are replaced by a double bond to a methylene group. A selective inhibitor of the aromatase (oestrogen synthase) system, it is used in the treatment of advanced breast cancer." "SNOMEDCT:116115004 MeSH:C056516 PMID:10882163 DrugBank:DB00990 CAS:107868-30-4 SNOMEDCT:387017005 Drug_Central:1122 NCIt:C1097 KEGG:D00963 Reaxys:6609645 KEGG:C08162 Wikipedia:Exemestane" + "A 17-oxo steroid that is androsta-1,4-diene-3,17-dione in which the hydrogens at position 6 are replaced by a double bond to a methylene group. A selective inhibitor of the aromatase (oestrogen synthase) system, it is used in the treatment of advanced breast cancer." "SNOMEDCT:116115004 PMID:10882163 MeSH:C056516 DrugBank:DB00990 CAS:107868-30-4 SNOMEDCT:387017005 Drug_Central:1122 NCIt:C1097 KEGG:D00963 Reaxys:6609645 KEGG:C08162 Wikipedia:Exemestane" "OBSOLETE. A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome." "NCIT:C113169 Orphanet:181368" "Quantification of phosphatidylinositol transfer protein alpha isoform in a sample." "PMID:29875488" "the IgG index (or CSF index) is the cerebrospinal fluid (CSF) IgG to CSF albumin ration compared to the serum IgG to serum albumin ratio. It is an indicator of the relative amount IgG in CSF compared to serum" @@ -57147,7 +57152,7 @@ "Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." "OMIM:309583" "Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system." "A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis." "NCIt:C34893 MedDRA:10033890 SNOMEDCT:13758004 icd11.foundation:452889019 MeSH:D010263 SCTID:13758004 DOID:5334 MESH:D010263 ICD10CM:N47.2 UMLS:C0030483 MEDGEN:14611 MONDO:0006889 NCIT:C34893" - "A mature male germ cell that develops from a spermatid." "ZFA:0009006 NCIt:C12602 CALOHA:TS-0949 BTO:0002046 WBbt:0005321 SAEL:93 BTO:0001277 NCIt:C13277 MeSH:D012661 FBbt:00004954 FMA:67338 WBbt:0006798 MA:0002765 MAT:0000131" + "A mature male germ cell that develops from a spermatid." "ZFA:0009006 NCIt:C12602 CALOHA:TS-0949 BTO:0002046 WBbt:0005321 SAEL:93 BTO:0001277 NCIt:C13277 FBbt:00004954 MeSH:D012661 FMA:67338 WBbt:0006798 MA:0002765 MAT:0000131" "Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." "OMIM:128230 ICD10:G24.1" "A disease that affects the small or large intestine." "ICD9:564 ICD9:560-569.99 ICD9:564.4 UMLS:C0021831 ICD9:569.9 ICD10:A04 ICD9:570-579.99 MONDO:0005020 NCIt:C26801 ICD9:569 SCTID:85919009 MESH:D007410 ICD10:A08 NCIT:C26801 ICD9:520-579.99 ICD9:569.4 DOID:5295 ICD10:K63 ICD9:575 ICD9:569.49 ICD9:569.89 MEDGEN:7130" "Quantification of DDB1- and CUL4-associated factor 5 in a sample." "PMID:29875488" @@ -57551,7 +57556,7 @@ "The array of photoreceptors and the cells that support them in a compound eye." "TAO:0000152 EMAPA:17168 EHDAA:4757 NIFSTD:birnlex_1153 BTO:0001175 TADS:0000551 ZFA:0000152 MA:0000276 XAO:0000009 SAEL:91 MFO:0003600 MAT:0000142 FBbt:00004200 FMA:58301 EV:0100348" "OMIM:138930 ICD10:Q87.5 MeSH:C537293 UMLS:C1841835" "Quantification of tapasin-related protein in a sample." "PMID:29875488" - "Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." "MeSH:D012035 UMLS:C0034960 OMIM:266500 ICD10:G60.1 OMIM:614879 MedDRA:10038275" + "Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases." "MedDRA:10038275 MeSH:D012035 UMLS:C0034960 OMIM:266500 ICD10:G60.1 OMIM:614879" "A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form." "NANDO:1200119 DOID:0080540 icd11.foundation:1838660035 SCTID:35691006 GARD:3953 NANDO:2200557 MESH:C536411 OMIM:256540 NCIT:C129928 UMLS:C0268233 ICD9:277.6 Orphanet:351 MEDGEN:82779" "The determination of the amount of pantoate in a blood sample" "PubChem:5289105 KEGG COMPOUND:C00522 CAS:470-29-1" "CS57644 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158668&type=germplasm" @@ -57751,7 +57756,7 @@ "The postaxial bone of the proximal tarsals series[Phenoscape]." "EMAPA:19134 BTO:0002355 MESH:D002111 UMLS:C0006655 MA:0001348 SCTID:182099002 FMA:24496 Wikipedia:Calcaneus galen:Calcaneum VSAO:0005016 NCIT:C32250" "The amount of a UPF0235 protein C15orf40 when measured in blood serum." "The fused compact cephalic plates that comprise the head, excluding the eyes, antennae and mouthparts." "FBbt:00004482" - "A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements." "GARD:20492 MEDGEN:308948 ICD10CM:C53.0 Orphanet:213792 DOID:4111 UMLS:C1516426 NCIT:C40229 SCTID:764847000" + "A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements." "MEDGEN:308948 GARD:20492 ICD10CM:C53.0 Orphanet:213792 DOID:4111 UMLS:C1516426 NCIT:C40229 SCTID:764847000" "The amount of a ADP-ribose glycohydrolase MACROD2 when measured in blood serum." "A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway." "GARD:12510 MEDGEN:42149 SCTID:50967008 icd11.foundation:797306953 UMLS:C0017083 DOID:2368 Orphanet:309144" "A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." "MEDGEN:120590 Orphanet:2604 SCTID:63684002 ICD9:359.89 icd11.foundation:1838806574 UMLS:C0266833 GARD:3443" @@ -58696,7 +58701,7 @@ "The directed movement of a protein to a specific location." "A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." "MONDO:0006222 EFO:1000269 UMLS:C2987398 MEDGEN:459624 NCIT:C95749" "The amount of a pleckstrin homology domain-containing family O member 1 when measured in blood." "PMID:37794183" - "A carcinoma that arises from epithelial cells of the urinary bladder" "DOID:4007 UMLS:C0699885 SCTID:255108000 NCIT:C4912 HP:0002862 MEDGEN:147071" + "A carcinoma that arises from epithelial cells of the urinary bladder" "DOID:4007 UMLS:C0699885 SCTID:255108000 HP:0002862 NCIT:C4912 MEDGEN:147071" "SNOMEDCT:12888006" "The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]." "EMAPA:36035 EFO:0000295 MESH:D001755 Wikipedia:Blastocyst FMA:83041 CALOHA:TS-0076 NCIT:C13739 GAID:1153 BTO:0001099 UMLS:C1281743 EV:0100394 SCTID:308837009" "The amount of a leucine-rich repeat and fibronectin type-III domain-containing protein 2 when measured in blood." "PMID:37794183" diff --git a/src/ontology/reports/edges.tsv b/src/ontology/reports/edges.tsv index 1bfecd62..8477b6fa 100644 --- a/src/ontology/reports/edges.tsv +++ b/src/ontology/reports/edges.tsv @@ -1,12569 +1,12571 @@ ?x ?p ?y - - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid28939 - - - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid283226 - + + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid287969 + + + + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid272624 + + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid274409 + + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid329968 + + + + + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid270730 + + + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid302823 + + + + + + + + + + + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid288504 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid272872 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid291253 + + 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@@ -77812,7 +77813,6 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid315069 @@ -77841,7 +77841,6 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid11803 @@ -77928,7 +77927,6 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid314961 @@ -77951,7 +77949,6 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid313109 @@ -78031,8 +78028,8 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - + @@ -78041,6 +78038,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid314791 @@ -78053,8 +78051,8 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - + @@ -78095,6 +78093,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid302027 @@ -78107,6 +78106,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid313831 @@ -78126,6 +78126,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid312874 @@ -78213,15 +78214,14 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - + - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid280478 @@ -78319,6 +78319,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid280448 @@ -78384,8 +78385,8 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - + @@ -78455,6 +78456,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid313307 @@ -78476,6 +78478,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid26054 @@ -78500,6 +78503,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid23824 @@ -78532,6 +78536,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid314027 @@ -78562,6 +78567,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid313631 @@ -78609,6 +78615,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid313899 @@ -78671,13 +78678,12 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid313281 - + @@ -78735,7 +78741,6 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid314101 @@ -78885,10 +78890,11 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid315415 - + @@ -78924,7 +78930,6 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid314001 @@ -78974,6 +78979,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid280786 @@ -78992,8 +78998,8 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - + @@ -79076,6 +79082,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid314499 @@ -79157,7 +79164,6 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid314717 @@ -79266,8 +79272,8 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - + @@ -79291,8 +79297,8 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - + @@ -79392,7 +79398,6 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid315389 @@ -79441,8 +79446,8 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - + @@ -79512,6 +79517,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid314915 @@ -79531,11 +79537,11 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid313077 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid313559 @@ -79547,8 +79553,8 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - + @@ -79584,8 +79590,8 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - + @@ -79743,6 +79749,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid8742 @@ -79882,7 +79889,6 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid14315 @@ -79915,6 +79921,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid314819 @@ -79954,8 +79961,8 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - + @@ -79978,14 +79985,14 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - + - + @@ -79994,7 +80001,6 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid314373 @@ -80115,16 +80121,17 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid315631 - + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid36808 + - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid15254 @@ -80177,6 +80184,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid315063 @@ -80187,8 +80195,8 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - + @@ -80207,10 +80215,10 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid313311 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid313501 @@ -80240,8 +80248,8 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - + @@ -80280,15 +80288,14 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid313681 - + @@ -80300,6 +80307,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid314727 @@ -80439,6 +80447,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid280213 @@ -80503,7 +80512,6 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid315847 @@ -80554,6 +80562,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid313927 @@ -80571,7 +80580,6 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid314473 @@ -80581,6 +80589,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid313011 @@ -80630,9 +80639,9 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + - @@ -80672,8 +80681,8 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - + @@ -80687,6 +80696,7 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 + _:B64d1129dX2D9541X2D4a55X2D9694X2Db11b59d6f265genid21362 @@ -80788,27 +80798,25 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - + - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid314757 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid292255 - + @@ -80825,7 +80833,6 @@ _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid349047 - _:B972e6ac2X2D5c14X2D41f0X2Dbf44X2Df4798756ef73genid24424 diff --git a/src/ontology/reports/synonyms.tsv b/src/ontology/reports/synonyms.tsv index cfb9ccc7..71b68300 100644 --- a/src/ontology/reports/synonyms.tsv +++ b/src/ontology/reports/synonyms.tsv @@ -6,13 +6,13 @@ "small integral membrane protein 9 measurement" "HEC1A" "obsolete_zygodactyly type 2" - "obsolete_Pilotto syndrome" "rho-associated protein kinase 2 measurement" - "KYSE-520" + "obsolete_Pilotto syndrome" "vitamin measurement" - "obsolete_embryonic optic lobe primordium" "level of sorting nexin-5 in blood" "Nestor-Guillermo progeria syndrome" + "KYSE-520" + "obsolete_embryonic optic lobe primordium" "adult teratoma" "PHD finger protein 6" "tibialis anterior" @@ -34,10 +34,10 @@ "T2" "cadherin-2 measurement" "level of importin subunit alpha-6 in blood serum" - "obsolete_osteomesopyknosis" "Autosomal dominant spastic paraplegia type 3" "radiation pneumonitis" "metabolic syndrome X" + "obsolete_osteomesopyknosis" "level of nucleosome-remodeling factor subunit BPTF in blood serum" "pancreas lymphoma" "sorting nexin-8" @@ -81,8 +81,8 @@ "level of receptor-binding cancer antigen expressed on SiSo cells in blood serum" "obsolete_disorder of protein N-glycosylation" "nuclear protein localization protein 4 homolog measurement" - "CXADR-like membrane protein measurement" "Rho guanine nucleotide exchange factor 5" + "CXADR-like membrane protein measurement" "Umkirch ecotype" "Decreased urine output" "peroxisome biogenesis disorder 4B" @@ -233,18 +233,18 @@ "mitochondrial dna depletion syndrome 8b (mngie type)"@en "obsolete_paternal uniparental disomy of chromosome 14" "placode" - "level of huntingtin-interacting protein 1-related protein in blood" "CEL-seq" + "level of huntingtin-interacting protein 1-related protein in blood" "tumor necrosis factor beta measurement" "retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies" "obsolete_ADULT syndrome" "obsolete_Renpenning syndrome" "level of pro-MCH in blood" "CS57660" - "level of protein canopy homolog 4 in blood" - "temporal pole volume measurement"@en "Hereditary cerebral hemorrhage with amyloidosis, Iowa type" + "level of protein canopy homolog 4 in blood" "Genetic respiratory or mediastinal malformation" + "temporal pole volume measurement"@en "transmembrane protease serine 11B measurement" "level of ADP-ribosylation factor-like protein 2 in blood serum" "X-16946 measurement" @@ -374,12 +374,12 @@ "external ear basal cell carcinoma" "Saccharomyces cerevisiae" "proteostasis deficiencies" + "Autosomal dominant spastic paraplegia type 12" "NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction" "1-linoleoylglycerophosphocholine measurement" "level of keratin, type I cuticular Ha4 in blood serum" "platelet activation" "limited iron regimen" - "Autosomal dominant spastic paraplegia type 12" "congenital fibrosarcoma" "complement component C1s deficiency" "accelerated phase myeloid leukemia" @@ -430,8 +430,8 @@ "adenoid cystic carcinoma of oropharynx" "obsolete_KID syndrome" "obsolete_Wilms tumor (bis)" - "cadherin-related family member 5 measurement" "CCL11 measurement" + "cadherin-related family member 5 measurement" "CS57751" "dermatitis, atopic, 2" "retinal dystrophy with or without macular staphyloma" @@ -441,9 +441,9 @@ "optic nerve" "spinocerebellar ataxia type 4" "myoclonic epilepsy of infancy" + "dendritic cell-derived intermediate cell" "discoidin, CUB and LCCL domain-containing protein 1" "proteasome subunit beta type-6" - "dendritic cell-derived intermediate cell" "Chrysolophus amherstiae" "Illumina HiSeq 3000" "Osteopetrosis - hypogammaglobulinemia" @@ -503,8 +503,8 @@ "RAC-gamma serine/threonine-protein kinase" "phosphorus metabolic process" "activator of apoptosis harakiri measurement" - "O-stearoylcarnitine" "retinoic acid" + "O-stearoylcarnitine" "cryptogenic late-onset epileptic spasms" "obsolete syndromic visceral malformation" "uridine diphosphate glucose measurement"@en @@ -556,9 +556,9 @@ "thyroxine measurement" "ferro-cerebro-cutaneous syndrome" "selenoprotein P" - "SK-MEL-30" "medulla of thymus" "rectum primordium" + "SK-MEL-30" "tendon sheath lipoma" "intestinal permeability measurement"@en "pharyngoconjunctival fever" @@ -655,12 +655,12 @@ "syntaxin-4" "United Kingdom" "G0/G1 switch protein 2 measurement" - "obsolete_monosomy 9q22.3" "proteasome-associated autoinflammatory syndrome 4" - "obsolete_osteogenesis imperfecta type 3" - "obsolete_spinocerebellar ataxia type 20" + "obsolete_monosomy 9q22.3" "obsolete_metacarpal bone" + "obsolete_osteogenesis imperfecta type 3" "larval day 5" + "obsolete_spinocerebellar ataxia type 20" "mean corpuscular hemoglobin concentration" "1-palmityl-2-palmitoyl-GPC (O-16:0/16:0) measurement" "acquired porphyria" @@ -761,9 +761,9 @@ "poliovirus receptor" "nervous system injury" "Brunet-Wagner neurodevelopmental syndrome" - "cyclic AMP-dependent transcription factor ATF-6 alpha measurement" "level of bone marrow proteoglycan in blood" "sample collection protocol" + "cyclic AMP-dependent transcription factor ATF-6 alpha measurement" "ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder" "obsolete_amyloidosis cutis dyschromia" "familial intrahepatic cholestasis" @@ -792,8 +792,8 @@ "mood disorder" "PDZ and LIM domain protein 4" "mesenchymal hamartoma" - "Drosophila melanogaster cell line" "obsolete_progressive non-fluent aphasia" + "Drosophila melanogaster cell line" "corpus callosum posterior volume measurement"@en "profilin-1" "AG11395 cell" @@ -812,8 +812,8 @@ "somite 12" "occipital horn syndrome" "bone mineral accretion measurement" - "Rare insulin-resistance syndrome" "Suleiman-El-Hattab syndrome" + "Rare insulin-resistance syndrome" "Lower limb deficiency - hypospadias" "NCI-H295R" "(10Z)-heptadecenoate" @@ -823,9 +823,9 @@ "alcohol abuse" "Larsen-like osseous dysplasia - short stature" "indeterminate sex and/or pseudohermaphroditism" - "obsolete_complete androgen insensitivity syndrome" "bronchiectasis with or without elevated sweat chloride 3" "male reproductive organ" + "obsolete_complete androgen insensitivity syndrome" "peptidyl-prolyl cis-trans isomerase A measurement" "leucine measurement" "pantothenate kinase-associated neurodegeneration" @@ -861,8 +861,8 @@ "disintegrin and metalloproteinase domain-containing protein 22" "Bilateral congenital mydriasis" "obsolete_ALG12-CDG" - "intestinal perforation" "vasoactive intestinal polypeptide receptor 1" + "intestinal perforation" "interleukin-11 receptor subunit alpha measurement" "level of interferon epsilon in blood serum" "adult acute monocytic leukemia" @@ -899,8 +899,8 @@ "pericardial cell primordium" "nephrotic syndrome 16" "level of TGF-beta 2 in blood" - "excretion" "EoL-1" + "excretion" "spondylometaphyseal dysplasia, Kozlowski type" "Acidosis" "Night blindness - skeletal anomalies - dysmorphism" @@ -909,8 +909,8 @@ "Recurrent bronchopulmonary infections" "Astigmatism" "benign prostate phyllodes tumor" - "labelling protocol" "level of SH3 domain-containing kinase-binding protein 1 in blood serum" + "labelling protocol" "protrudin measurement" "pepsinogen-I measurement" "level of Phosphatidylcholine (16:0_18:0) in blood serum" @@ -948,8 +948,8 @@ "X-17010 measurement" "level of Gly-Pro in blood" "myoblast" - "obsolete_iminoglycinuria" "obsolete_Pendred syndrome" + "obsolete_iminoglycinuria" "Kc" "obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess" "EEG with abnormally slow frequencies" @@ -975,9 +975,9 @@ "level of MICOS complex subunit MIC25 in blood" "T-cell surface protein tactile measurement" "obsolete_alanine transaminase measurement" + "obsolete_autosomal dominant Alport syndrome" "anaerobic meningitis" "response to stress" - "obsolete_autosomal dominant Alport syndrome" "level of hydroxyacylglutathione hydrolase in blood serum" "spastic ataxia 5" "obsolete_tremor - ataxia - central hypomyelination syndrome" @@ -1080,9 +1080,9 @@ "obsolete_familial dilated cardiomyopathy" "level of long-chain fatty acid transport protein 2 in blood serum" "age of onset of allergic disease" - "Ectodermal malformation syndrome associated with ocular features" "body proper" "bone morphogenetic protein 3B" + "Ectodermal malformation syndrome associated with ocular features" "Pinctada maxima" "obsolete_morning glory syndrome" "level of catechol O-methyltransferase in blood" @@ -1131,9 +1131,9 @@ "Somatic sensory dysfunction" "obsolete_hyperinsulinism due to HNF1A deficiency" "Nidovirales infectious disease" - "obsolete_cystinuria type B" "beta-defensin 118 measurement" "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1" + "obsolete_cystinuria type B" "Arterial thrombosis" "level of cyclic AMP-responsive element-binding protein 3-like protein 1 in blood serum" "haltere" @@ -1175,12 +1175,12 @@ "Nuphar advena" "obsolete benign familial mesial temporal lobe epilepsy" "visceral neuropathy, familial, 2, autosomal recessive" - "uveitis" "bromobenzene" + "uveitis" "postprandial hyperlipidemia" - "2-methoxyhydroquinone glucuronide (2) measurement" "lavage"@en "lavage" + "2-methoxyhydroquinone glucuronide (2) measurement" "Seckel syndrome" "calsyntenin-3" "PRO-seq" @@ -1278,8 +1278,8 @@ "level of homeobox protein goosecoid-2 in blood serum" "Chrysolophus pictus" "stachydrine measurement" - "lymphocyte antigen 86 measurement" "prostate gland" + "lymphocyte antigen 86 measurement" "level of folate receptor alpha in blood serum" "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations" "subarachnoid space" @@ -1335,17 +1335,17 @@ "ADAMTS-like protein 1 measurement" "gamma wave measurement" "glycosyltransferase 8 domain-containing protein 2" + "oral leukoedema" "uridine diphosphate measurement"@en "Streptococcus pyogenes MGAS6180" "zinc finger protein 264" "Abnormal liver function tests during pregnancy" - "oral leukoedema" "level of sodium/potassium-transporting ATPase subunit beta-1 in blood" "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1" "Expressive language delay" - "obsolete_Bethlem myopathy" "Reduced beta/alpha synthesis ratio" + "obsolete_Bethlem myopathy" "interferon gamma measurement" "nuclear cap-binding protein subunit 2" "level of cytohesin-1 in blood serum" @@ -1376,8 +1376,8 @@ "cryopyrin-associated periodic syndrome" "dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C" "heterotaxy, visceral, 5, autosomal" - "potassium voltage-gated channel subfamily F member 1 measurement" "patched domain-containing protein 3" + "potassium voltage-gated channel subfamily F member 1 measurement" "X-11374 measurement" "cholesterol esters in large HDL measurement" "obsolete_non-distal trisomy 13q" @@ -1515,8 +1515,8 @@ "benign epithelial skin neoplasm" "protein unc-119 homolog B" "tolloid-like protein 1" - "obsolete_hereditary mixed polyposis syndrome" "peptidyl-prolyl cis-trans isomerase B measurement" + "obsolete_hereditary mixed polyposis syndrome" "familial dilated cardiomyopathy" "methionine measurement" "level of poly(rC)-binding protein 2 in blood" @@ -1537,8 +1537,8 @@ "Renal juxtaglomerular cell hypertrophy/hyperplasia" "positive regulation of platelet aggregation" "Macropus eugenii" - "benign neoplasm of cerebrum" "small intestinal adenocarcinoma" + "benign neoplasm of cerebrum" "NCI-H1648" "antigen-presenting glycoprotein CD1d measurement" "peridontal microbiome" @@ -1569,15 +1569,15 @@ "liver failure" "GM14503" "Metabolic acidosis" - "respiratory syncytial virus seropositivity" "S-sulfo-L-cysteine" "butyrophilin subfamily 3 member A3" + "respiratory syncytial virus seropositivity" "flavin adenine dinucleotide" "autosomal recessive axonal hereditary motor and sensory neuropathy"@en - "IgG fucosylation measurement" "multiple epiphyseal dysplasia" "26S proteasome non-ATPase regulatory subunit 4" "BDC2.5/NOD" + "IgG fucosylation measurement" "trait in response to melphalan" "ventricular septal defect 2" "prostate leiomyoma" @@ -1587,8 +1587,8 @@ "obsolete_cranio-osteoarthropathy" "level of SH3 and PX domain-containing protein 2B in blood serum" "L-cysteine glutathione disulfide" - "level of metallophosphoesterase MPPED2 in blood serum" "X-12039 measurement" + "level of metallophosphoesterase MPPED2 in blood serum" "obsolete_Pitt-Hopkins syndrome" "adipoylcarnitine (C6-DC) measurement" "level of transcription factor SOX-2 in blood" @@ -1677,16 +1677,16 @@ "obsolete_lethal Larsen-like syndrome" "level of indole-3-butyric acid in blood" "level of calcineurin B homologous protein 3 in blood serum" - "obsolete_20p13 microdeletion syndrome" "Muscular pseudohypertrophy - hypothyroidism" "level of platelet factor 4 variant in blood serum" + "obsolete_20p13 microdeletion syndrome" "NOF151" "endocarditis" + "obsolete_hippocampus CA2" + "Neurodegeneration" "free cholesterol in very large VLDL measurement " "organic cation measurement"@en "HEY" - "obsolete_hippocampus CA2" - "Neurodegeneration" "allergic rhinitis" "obsolete_ventral nerve cord primordium" "transmembrane protein 106A" @@ -1700,8 +1700,8 @@ "HUES65" "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase measurement" "macular dystrophy with central cone involvement" - "obsolete_pontocerebellar hypoplasia type 1" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2J" + "obsolete_pontocerebellar hypoplasia type 1" "Bifid ribs" "interleukin 17 measurement" "level of probable ATP-dependent RNA helicase DDX53 in blood" @@ -1709,11 +1709,11 @@ "base unit" "alanine--glyoxylate aminotransferase" "level of hydroxyacylglutathione hydrolase-like protein in blood serum" + "Pelvic dysplasia - arthrogryposis of lower limbs" "level of inosine triphosphate pyrophosphatase in blood serum" "presumptive dorsal mesoderm" "neoplasm of hypopharynx" "pancreaticobiliary malunion" - "Pelvic dysplasia - arthrogryposis of lower limbs" "organochlorine pesticide measurement" "SE.02 two nodes or internodes visible stage" "left ventricular hypertrophy" @@ -1825,12 +1825,12 @@ "N-methyltaurine measurement" "level of vesicle-associated membrane protein 7 in blood serum" "stearoyl-arachidonoyl-glycerophosphocholine (2) measurement" - "placental retention" "uterine disorder" - "obsolete_ventral anterior lateral line ganglion" + "placental retention" "NIH3T3" "disorder of lectin complement activation pathway" "level of aldo-keto reductase family 1 member C3 in blood serum" + "obsolete_ventral anterior lateral line ganglion" "seed" "cardiac mesoderm primordium" "ssRNA-seq" @@ -1870,8 +1870,8 @@ "LP.16 sixteen leaves visible stage" "Granulocytic Sarcoma" "Nucleosome" - "uveoparotid fever" "level of beta-defensin 132 in blood serum" + "uveoparotid fever" "obsolete_early-onset autosomal dominant Alzheimer disease" "1-pentadecanoyl-2-linoleoyl-GPC (15:0/18:2) measurement" "segmental intercostal artery" @@ -1886,9 +1886,9 @@ "ephrin type-a receptor 5 measurement" "cholestasis, progressive familial intrahepatic, 4" "adhesion G protein-coupled receptor L3" - "obsolete_isochromosomy Yp" "stroma of bone marrow" "3-aminoisobutyrate" + "obsolete_isochromosomy Yp" "dual specificity protein phosphatase 26" "enlarged vestibular aqueduct syndrome" "developmental and epileptic encephalopathy, 88" @@ -1930,9 +1930,9 @@ "spermidine measurement"@en "level of cell death regulator Aven in blood serum" "gastric intestinal type adenocarcinoma" - "X-12262 measurement" "TM2 domain-containing protein 1" "zinc transporter ZIP5" + "X-12262 measurement" "level of 5,6-dihydroxyindole-2-carboxylic acid oxidase in blood" "8p11.2 deletion syndrome" "obsolete_ring gland" @@ -2046,9 +2046,9 @@ "Primary Peritoneal Serous Adenocarcinoma" "obsolete_subthalamic nucleus" "apoplasm" + "Erythema palmaris hereditarium" "histone-lysine N-methyltransferase 2D" "palatine uvula" - "Erythema palmaris hereditarium" "acth-independent macronodular adrenal hyperplasia 2" "Joubert syndrome 37" "5-dodecenoate 12:1n7 measurement" @@ -2061,8 +2061,8 @@ "obsolete_hypothalamic hamartomas with gelastic seizures" "hemoglobin H disease" "triglycerides to total lipids in small LDL percentage " - "generalised epilepsy" "KP-2" + "generalised epilepsy" "chromodomain Y-like protein 2" "Peripheral demyelination" "obsolete chronic acquired demyelinating polyneuropathy" @@ -2075,15 +2075,15 @@ "X-11381 measurement" "integrin beta-6" "obsolete_mosaic trisomy 14" + "adenosine 3'-phospho 5'-phosphosulfate transporter 2 measurement" "methanethiol oxidase activity" "level of defensin beta 4A in blood serum" - "adenosine 3'-phospho 5'-phosphosulfate transporter 2 measurement" - "DnaJ homolog subfamily C member 15" "glucose-to-mannose ratio" + "DnaJ homolog subfamily C member 15" "isolated Dandy-Walker malformation without hydrocephalus" "putamen measurement" - "uridine measurement"@en "hindgut proper primordium" + "uridine measurement"@en "amino acid measurement" "vagal placode 3" "obsolete_tail bud" @@ -2106,10 +2106,10 @@ "emphysematous cholecystitis" "tracheal mucosa" "level of ribosomal protein S6 kinase alpha-1 in blood serum" - "obsolete_short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome" "synophrys measurement" "submandibular gland cancer" "infundibulopelvic stenosis-multicystic kidney syndrome" + "obsolete_short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome" "Concave nasal ridge" "level of armadillo repeat-containing protein 8 in blood serum" "Drowsiness" @@ -2120,8 +2120,8 @@ "potassium voltage-gated channel subfamily G member 4 measurement" "Schistosoma mansoni" "HT55" - "obsolete_syndromic ankyloblepharon" "vascular endothelial growth factor C measurement" + "obsolete_syndromic ankyloblepharon" "level of uroplakin-3a in blood" "SARS coronavirus" "autosomal recessive polycystic kidney disease" @@ -2313,10 +2313,10 @@ "complement C1r subcomponent measurement" "level of myosin-binding protein C, slow-type in blood serum" "level of ubiquinone biosynthesis protein COQ7 in blood serum" - "26S proteasome non-ATPase regulatory subunit 6" "trait in response to silicon dioxide" - "histone deacetylase 4" "ventricular septal defect 3" + "26S proteasome non-ATPase regulatory subunit 6" + "histone deacetylase 4" "Charcot-Marie-Tooth disease" "breast-ovarian cancer, familial, susceptibility to, 5" "retrocochlear disease" @@ -2334,10 +2334,11 @@ "level of glutamate decarboxylase 2 in blood" "primary myelofibrosis" "T wave amplitude" - "OUMS-23" "leukocyte cell-derived chemotaxin 1 measurement" + "OUMS-23" "obsolete_AICA-ribosiduria" "level of C-type lectin domain family 11 member A in blood" + "Disorder of phenylalanin or tyrosine metabolism" "illuminance unit" "level of protein canopy homolog 4 in blood serum" "differential expression analysis data transformation"@en @@ -2346,11 +2347,10 @@ "TruDrop" "cardiac arrest" "Rauch-Steindl syndrome" - "Disorder of phenylalanin or tyrosine metabolism" "cyclin-C measurement" "level of ankyrin repeat and SOCS box protein 13 in blood serum" - "xerostomia" "level of NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial in blood serum" + "xerostomia" "well-differentiated fetal adenocarcinoma of the lung" "obsolete_spinocerebellar ataxia type 11" "calcineurin subunit B type 1 measurement" @@ -2390,8 +2390,8 @@ "epilepsy, idiopathic generalized, susceptibility to, 6" "level of protein Frey in blood serum" "Rat-1" - "lymphoma or leukaemia cell line" "Wernicke encephalopathy" + "lymphoma or leukaemia cell line" "2-nitrotoluene" "UPF0561 protein C2orf68" "Paramecium bursaria Chlorella virus 1" @@ -2514,9 +2514,9 @@ "level of aldo-keto reductase family 1 member C4 in blood serum" "Indian hedgehog protein" "STATseq" + "level of syntaxin-2 in blood serum" "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)" "tubular aggregate myopathy" - "level of syntaxin-2 in blood serum" "malate dehydrogenase, cytoplasmic measurement" "Megalocornea" "epidermal growth factor-like protein 6" @@ -2552,8 +2552,8 @@ "level of TOM1-like protein 2 in blood serum" "isolated focal cortical dysplasia type Ib" "mesenchyme derived from head neural crest" - "gamma-linolenate" "UM-UC-1" + "gamma-linolenate" "joule per square meter" "Prader-Willi syndrome due to translocation" "thyroid lymphoma" @@ -2623,8 +2623,8 @@ "obsolete abdominal and pelvic region disorder" "kidney volume" "ephrin type-b receptor 4 measurement" - "kidney" "disease characteristic" + "kidney" "CD4-positive, alpha-beta memory T cell" "obsolete_arthrogryposis-like syndrome" "X-12283 measurement" @@ -2740,8 +2740,8 @@ "obsolete_congenital deformities of fingers" "Entamoeba histolytica" "extensor tendons of finger anomalies" - "obsolete_metachromatic leukodystrophy, adult form" "natural killer cell activation" + "obsolete_metachromatic leukodystrophy, adult form" "myristoyl dihydrosphingomyelin (d18:0/14:0) measurement" "anterior lateral line placode" "melanoma, cutaneous malignant, susceptibility to, 9" @@ -2763,16 +2763,16 @@ "interferon alpha-14 measurement" "nectar" "histone-lysine N-methyltransferase 2C" + "obsolete_isochromosomy Yq" "muscular dystrophy, congenital, with cataracts and intellectual disability" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "tracheobronchial tree" - "obsolete_isochromosomy Yq" "dual specificity protein phosphatase 3" "tata-box-binding protein measurement" "cervical alveolar soft part sarcoma" - "peptidyl-prolyl cis-trans isomerase H measurement" "a disintegrin and metalloproteinase with thrombospondin motifs 6" "level of complexin-2 in blood" + "peptidyl-prolyl cis-trans isomerase H measurement" "autosomal dominant limb-girdle muscular dystrophy type 1H" "level of microtubule-associated protein 2 in blood" "hyper-IgM syndrome type 4" @@ -2809,8 +2809,8 @@ "larval day 21-29" "triglycerides to total lipids in small VLDL percentage " "BCL-2-like protein 1 measurement" - "vacuolar protein sorting-associated protein 37A" "KP-3" + "vacuolar protein sorting-associated protein 37A" "level of ribosomal protein S6 kinase alpha-6 in blood serum" "centrosomal protein of 85 kDa" "reticulon-1" @@ -2874,8 +2874,8 @@ "X-25420 measurement" "obsolete_syndromic palpebral coloboma" "level of ubiquitin carboxyl-terminal hydrolase 47 in blood" - "mature conventional dendritic cell" "ribonuclease H1 measurement" + "mature conventional dendritic cell" "infectious encephalitis" "level of receptor-type tyrosine-protein phosphatase eta in blood serum" "level of collagen alpha-1(XXIV) chain in blood" @@ -2903,8 +2903,8 @@ "SK-MEL-2" "familial adenomatous polyposis 1" "chronic endometritis" - "multifocal pattern dystrophy simulating fundus flavimaculatus" "pro-neuregulin-2, membrane-bound isoform measurement" + "multifocal pattern dystrophy simulating fundus flavimaculatus" "level of GSK3B-interacting protein in blood serum" "acanthosis nigricans" "adrenal gland" @@ -2960,8 +2960,8 @@ "Gingivitis" "severe combined immunodeficiency due to CTPS1 deficiency" "obsolete_Usher syndrome" - "obsolete_mucopolysaccharidosis type 4A" "autoimmune encephalitis" + "obsolete_mucopolysaccharidosis type 4A" "corneal hysteresis" "Distal hereditary motor neuropathy type 5" "leukocyte cell-derived chemotaxin-2" @@ -3003,8 +3003,8 @@ "CD34-positive, GlyA-negative erythroid progenitor cell" "obsolete_ALG1-CDG" "POU domain, class 2, transcription factor 1 measurement" - "SNP array" "pemphigus herpetiformis" + "SNP array" "protein kish-B" "chromosome 19p13.13 deletion syndrome" "obsolete_Wilson disease" @@ -3035,9 +3035,9 @@ "neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism" "suberoylcarnitine (C8-DC) measurement" "seborrheic keratosis" + "coffee consumption" "urocanic aciduria" "protein N-terminal asparagine amidohydrolase" - "coffee consumption" "obsolete_superior temporal gyrus" "cheekbone morphology measurement" "obsolete_medium chain acyl-CoA dehydrogenase deficiency" @@ -3046,13 +3046,13 @@ "obsolete_familial glucocorticoid deficiency" "TAIL-seq" "bilirubin transport" - "antigen peptide transporter 1" "obsolete_disorder of phospholipids, sphingolipids and fatty acids biosynthesis" - "level of CB1 cannabinoid receptor-interacting protein 1 in blood serum" + "antigen peptide transporter 1" "GEXSCOPE technology" + "level of CB1 cannabinoid receptor-interacting protein 1 in blood serum" + "paroxysmal tachycardia" "obsolete_lateral mesenchyme derived from mesoderm" "beta-enolase" - "paroxysmal tachycardia" "protein kinase inhibitor" "Agitation" "brain stem neoplasm" @@ -3096,8 +3096,8 @@ "obsolete_methylcobalamin deficiency type cblG" "1-stearoyl-2-dihomo-linolenoyl-GPI (18:0/20:3n3 or 6) measurement" "pityriasis versicolor" - "thrombophilia due to activated protein C resistance" "obsolete_congenital laryngomalacia" + "thrombophilia due to activated protein C resistance" "transcriptional repressor NF-X1" "level of Val-Leu in blood" "COLO 783" @@ -3307,16 +3307,16 @@ "ankylosing spondylitis" "MELAS" "cytohesin-4 measurement" - "X-21830 measurement" - "portal endothelial cell"@en "anemia, hypochromic microcytic with iron overload" + "X-21830 measurement" "hip bone size" + "portal endothelial cell"@en "centrosome-associated protein 350" "familial cylindromatosis" - "obsolete_paternal uniparental disomy of chromosome 6" "level of ribonucleoside-diphosphate reductase subunit M2 B in blood serum" "serine protease inhibitor Kazal-type 4" "Isolated polycystic liver disease" + "obsolete_paternal uniparental disomy of chromosome 6" "protein phosphatase 1M" "mediastinum" "level of polyadenylate-binding protein 3 in blood serum" @@ -3428,8 +3428,8 @@ "multiple endocrine neoplasia" "phyllodes tumor" "mouth disease" - "miconazole" "autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome" + "miconazole" "multinodular goiter-cystic kidney-polydactyly syndrome" "dual specificity protein phosphatase 4" "gamma-amino butyric acid metabolism disorder" @@ -3562,11 +3562,11 @@ "X-linked progressive cerebellar ataxia" "obsolete inherited ichthyosis syndromic form" "level of Sterol ester (27:1/20:4) in blood serum" - "level of ATP-dependent RNA helicase A in blood serum" "etoposide" "Native Hawaiian" "myofibromatosis, infantile, 1" "auditory hair cell" + "level of ATP-dependent RNA helicase A in blood serum" "epididymal-specific lipocalin-10" "obsolete_partial duplication of chromosome 1" "HET-1A" @@ -3583,8 +3583,8 @@ "kynurenic acid" "BTB/POZ domain-containing protein KCTD5" "obsolete_iridocorneal endothelial syndrome" - "obsolete_spinocerebellar ataxia type 7" "obsolete_gastrointestinal stromal tumor" + "obsolete_spinocerebellar ataxia type 7" "Moderate global developmental delay" "female athlete triad syndrome" "Al Kaissi syndrome" @@ -3624,13 +3624,13 @@ "methylmalonic acidemia" "Tolchin-Le Caignec syndrome" "dual 3';5'-cyclic-AMP and -GMP phosphodiesterase 11A measurement" - "Familial esophageal achalasia" "generalized galactose epimerase deficiency" + "Familial esophageal achalasia" "Calcifying Nested Epithelial Stromal Tumor of the Liver" "nucleoside diphosphate kinase B measurement" "level of ubiquitin-conjugating enzyme E2 R2 in blood serum" - "obsolete_BA/F3 cell" "congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome" + "obsolete_BA/F3 cell" "band 4.1-like protein 5" "obsolete_Lennox-Gastaut syndrome" "level of Na(+)/H(+) exchange regulatory cofactor NHE-RF1 in blood" @@ -3641,9 +3641,9 @@ "fundus pulverulentus" "probable ATP-dependent RNA helicase DHX58 measurement" "Achenbach syndrome" - "benign neoplasm of ciliary body" "obsolete_epithelial cell of lung" "leptomeningeal melanoma" + "benign neoplasm of ciliary body" "obsolete_total spina bifida cystica" "obsolete_persistent hyperplastic primary vitreous" "obsolete_lateral cord glia" @@ -3662,8 +3662,8 @@ "UPF0729 protein C18orf32" "columella root cap cell" "level of fibronectin type III domain-containing protein 4 in blood" - "purine nucleoside metabolic process" "orchitis" + "purine nucleoside metabolic process" "GM3 synthase deficiency" "level of pikachurin in blood" "level of BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like in blood serum" @@ -3691,15 +3691,15 @@ "protein LZIC" "genetic modification design" "hydrocephalus, congenital, 3, with brain anomalies" - "Multiple sclerosis - ichthyosis - factor VIII deficiency" "ethanolamine kinase 1" - "obsolete_distal trisomy 14q" + "Multiple sclerosis - ichthyosis - factor VIII deficiency" + "corneal resistance factor" "phosphotriesterase-related protein" "tiling array" - "corneal resistance factor" "drug-induced pemphigus" "level of sorting nexin-5 in blood serum" "R9" + "obsolete_distal trisomy 14q" "level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 in blood serum" "protocadherin-8" "epithelial cell derived cell line" @@ -3746,9 +3746,9 @@ "obsolete_X-linked immunoneurologic disorder" "PR domain zinc finger protein 4 measurement" "IM-95" + "obsolete_eyelids malposition disorder" "FL.04 end of flowering stage" "trichinosis" - "obsolete_eyelids malposition disorder" "neurodegenerative disease" "histone-lysine N-methyltransferase KMT5C" "rho GDP-dissociation inhibitor 2 measurement" @@ -3771,8 +3771,8 @@ "adrenergic antagonist" "Cranial meningocele" "obsolete_brachyolmia-amelogenesis imperfecta syndrome" - "deoxycholic acid 3-sulfate measurement" "pityriasis rosea" + "deoxycholic acid 3-sulfate measurement" "Usher syndrome type 1" "Arabidopsis suecica" "Bile acid synthesis defect with cholestasis and malabsorption" @@ -3841,11 +3841,11 @@ "obsolete_1p31p32 microdeletion syndrome" "3-methylhistidine" "obsolete_juvenile leaf" - "level of E3 ubiquitin-protein ligase RNF5 in blood" "GM17805" "Lambdoidal craniosynostosis" "X-linked mixed hearing loss with perilymphatic gusher" "interleukin-16" + "level of E3 ubiquitin-protein ligase RNF5 in blood" "obsolete_VACTERL/vater association" "proventriculus primordium" "2-hydroxybutyrate/2-hydroxyisobutyrate measurement" @@ -3861,23 +3861,23 @@ "ankyrin repeat domain-containing protein 40" "ADP-ribosylation factor 5" "level of misshapen-like kinase 1 in blood" + "obsolete_pseudopseudohypoparathyroidism" "arteriosclerosis" "osteocalcin measurement"@en "methyl cellulose" "Candida dubliniensis" - "obsolete_pseudopseudohypoparathyroidism" "dorsal root ganglia homeobox protein" "amelogenesis imperfecta type 1G" "O-[(4Z)-decenoyl]carnitine" "Brachydactyly - arterial hypertension" "obsolete_double outlet right ventricle with subpulmonary ventricular septal defect" - "X-22508 measurement" "HNT-34" + "X-22508 measurement" "obsolete acrodermatitis continua suppurativa of Hallopeau" "glycoproteinosis" - "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 measurement" "GM17295" "Erythematous papule" + "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 measurement" "retinal cell neoplasm" "free lanosterol measurement"@en "level of transcription factor HES-1 in blood serum" @@ -4004,8 +4004,8 @@ "Listeria monocytogenes serotype 4b str. F2365" "tuberculoid leprosy" "trans-2-hexenoylglycine measurement" - "uterine corpus adenosarcoma" "Isolated cytochrome C oxidase deficiency" + "uterine corpus adenosarcoma" "abnormal paneth cell measurement" "mucin-16" "contracture" @@ -4043,8 +4043,8 @@ "adamantinoma" "mouse cell line" "Hepatitis B virus core antigen seropositivity" - "obsolete_homocystinuria without methylmalonic aciduria" "D-Mannose measurement" + "obsolete_homocystinuria without methylmalonic aciduria" "indometacin" "autosomal dominant osteopetrosis" "Adermatoglyphia" @@ -4159,8 +4159,8 @@ "vasopressin secretion" "immunoglobulin superfamily DCC subclass member 3 measurement" "palmitoyl-linoleoyl-glycerol (16:0/18:2) [1] measurement" - "obsolete_Ruvalcaba syndrome" "facial dysmorphism-immunodeficiency-livedo-short stature syndrome" + "obsolete_Ruvalcaba syndrome" "oxoadipic acid measurement" "cyclin-H" "hypervalinemia and hyperleucine-isoleucinemia" @@ -4186,8 +4186,8 @@ "intestinal cancer" "peptidyl-prolyl cis-trans isomerase-like 1 measurement" "Thiamine deficiency" - "adenosine 5'-monophosphate" "monocyte-derived osteoclast" + "adenosine 5'-monophosphate" "level of death domain-containing protein CRADD in blood" "level of dihydropyrimidinase-related protein 2 in blood serum" "chromosome 6q11-q14 deletion syndrome" @@ -4231,10 +4231,10 @@ "body mass index" "progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome" "autoimmune cardiomyopathy" - "facial depth measurement" "imidacloprid" - "level of protein phosphatase 1F in blood" + "facial depth measurement" "MeRIP-Seq" + "level of protein phosphatase 1F in blood" "Hyperlipoproteinemia type 5" "obsolete non-syndromic central nervous system malformation" "N-formylanthranilic acid measurement" @@ -4315,8 +4315,8 @@ "neoplastic syndrome" "level of protein transport protein Sec61 subunit gamma in blood serum" "probable E3 ubiquitin-protein ligase HERC1 measurement" - "autosomal recessive hereditary demyelinating motor and sensory neuropathy" "Abnormality of the musculature" + "autosomal recessive hereditary demyelinating motor and sensory neuropathy" "level of peptidyl-prolyl cis-trans isomerase H in blood serum" "level of TNF receptor-associated factor 4 in blood serum" "ankrd1-related dilated cardiomyopathy"@en @@ -4334,8 +4334,8 @@ "oxylipin" "striatonigral degeneration" "hyaluronan mediated motility receptor" - "4-(4-Hydroxyphenyl)-2-butanol" "carpal tunnel syndrome" + "4-(4-Hydroxyphenyl)-2-butanol" "progeroid features-hepatocellular carcinoma predisposition syndrome" "level of SH3 domain-binding glutamic acid-rich-like protein 2 in blood" "MKN28" @@ -4360,8 +4360,8 @@ "SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth" "Cymbidium ringspot virus" "cell outer membrane" - "obsolete_tarsal kink syndrome" "mitral valve prolapse, myxomatous 3" + "obsolete_tarsal kink syndrome" "Woolly hair" "cell specimen" "Adult-onset autosomal recessive sideroblastic anemia" @@ -4409,8 +4409,8 @@ "deoxyribonuclease-2-beta" "response to statin" "obsolete_disease state design" - "myomesin-1" "adaxial cells" + "myomesin-1" "proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome" "Peritoneal Fibrosis" "brachyolmia, Maroteaux type" @@ -4427,9 +4427,9 @@ "leucine zipper transcription factor-like protein 1" "obsolete_ascending colon" "growth condition design" + "obsolete_familial isolated arrhythmogenic ventricular dysplasia, left dominant form" "microcephaly with lissencephaly and/or hydranencephaly" "bathing suit ichthyosis" - "obsolete_familial isolated arrhythmogenic ventricular dysplasia, left dominant form" "metastatic malignant neoplasm in the eye" "malignant cardiac germ cell tumor" "pre-mRNA-processing factor 6 measurement" @@ -4502,11 +4502,11 @@ "familial atrial fibrillation" "porokeratosis" "endothelial differentiation-related factor 1 measurement" - "obsolete_euryblepharon" "MGAT2-congenital disorder of glycosylation" "connective tissue neoplasm" - "AIDS related complex" + "obsolete_euryblepharon" "S49" + "AIDS related complex" "transmembrane protease serine 11D" "diacylglycerol 36:5 measurement" "beta-thalassemia HBB/LCRB" @@ -4536,8 +4536,8 @@ "Toll-like receptor 10" "scrapie-responsive protein 1" "COLO 800" - "citalopram" "sperm motility measurement" + "citalopram" "inclusion conjunctivitis" "liver disease" "diffuse type adenocarcinoma" @@ -4580,8 +4580,8 @@ "HiTS-Flip" "Perrault syndrome 1" "age of onset of myopia" - "obsolete_X-linked neurodegenerative syndrome, Bertini type" "GM17811" + "obsolete_X-linked neurodegenerative syndrome, Bertini type" "obsolete_sclerosteosis" "S-adenosylhomocysteine hydrolase-like protein 1" "pregnancy-specific beta-1-glycoprotein 2 measurement" @@ -4620,16 +4620,16 @@ "combined low LDL and fibrinogen" "Aspergillus fumigatus" "obsolete_pectoral fin skeleton" - "2-palmitoylglycerophosphocholine measurement" "level of coiled-coil domain-containing protein 90B, mitochondrial in blood serum" + "2-palmitoylglycerophosphocholine measurement" "myopathy, distal, 7, adult-onset, X-linked" "heat shock-related 70 kDa protein 2" "syndromic X-linked intellectual disability Siderius type" "ursodeoxycholate" "obsolete_multiple epiphyseal dysplasia, with miniepiphyses" "lymphoid tissue" - "EC 5.99.1.2 (DNA topoisomerase) inhibitor" "Charcot-Marie-Tooth disease recessive intermediate B" + "EC 5.99.1.2 (DNA topoisomerase) inhibitor" "obsolete_glaucoma" "Skin vesicle" "level of voltage-gated potassium channel KCNC4 in blood" @@ -4656,10 +4656,10 @@ "obsolete_21q22.11q22.12 microdeletion syndrome" "obsolete_Neonatal adrenoleukodystrophy" "aconitate(3-)" - "polycythemia due to hypoxia" "HAUS augmin-like complex subunit 1" - "level of CD164 sialomucin-like 2 protein in blood" + "polycythemia due to hypoxia" "sedative" + "level of CD164 sialomucin-like 2 protein in blood" "Ras protein signal transduction" "protein e7_hpv16 measurement" "level of paralemmin-2 (human) in blood" @@ -4831,8 +4831,8 @@ "X-25937 measurement" "Edema of the dorsum of feet" "Choristoneura fumiferana" - "floor plate of midbrain" "low-density lipoprotein receptor-related protein 1; soluble measurement" + "floor plate of midbrain" "level of antigen-presenting glycoprotein CD1d in blood serum" "mediastinal schwannoma" "hMeDIP-seq" @@ -4962,9 +4962,9 @@ "Polyneuropathy - hand defect" "obsolete_X-linked Emery-Dreifuss muscular dystrophy" "Hypertelorism - hypospadias - polysyndactyly syndrome" - "Hereditary proximal myopathy with early respiratory failure" "Müllerian derivatives - lymphangiectasia - polydactyly" "autosomal recessive osteopetrosis 2" + "Hereditary proximal myopathy with early respiratory failure" "level of polyadenylate-binding protein 5 in blood serum" "thyroid hormone receptor alpha measurement" "Hs 695T" @@ -4973,20 +4973,20 @@ "Immunodeficiency syndrome with hypopigmentation" "HCC0033" "obsolete_flag leaf" - "Medullary Cystic Kidney Disease Type I" "CME-W1-Cl.8+" "mimecan" - "prion disease" + "Medullary Cystic Kidney Disease Type I" "level of a disintegrin and metalloproteinase with thrombospondin motifs 6 in blood serum" "psychosexual disorder" "ileum" + "prion disease" "Magnaporthe oryzae 70-15" "level of ubiquitin-conjugating enzyme E2 B in blood serum" "hexadecenoylcarnitine measurement"@en "level of Indian hedgehog protein in blood serum" "level of A-kinase anchor protein 7 in blood serum" - "DG75" "calcium/calmodulin-dependent protein kinase type 1D measurement" + "DG75" "Widow's peak" "level of zinc transporter ZIP5 in blood" "level of UDP-glucose 6-dehydrogenase in blood" @@ -5030,8 +5030,8 @@ "Charcot-Marie-Tooth disease X-linked dominant 1" "cardiomyopathy, familial restrictive, 1" "permetin A measurement" - "Illumina Genome Analyzer IIx standard manufacturer's protocol" "hyaline fibromatosis syndrome" + "Illumina Genome Analyzer IIx standard manufacturer's protocol" "Cleft mandible" "lipocalin-15" "Autosomal dominant spastic paraplegia type 19" @@ -5167,8 +5167,8 @@ "chromoblastomycosis" "obsolete_congenital trochlear nerve palsy" "childhood T acute lymphoblastic leukemia" - "Phe-Gly" "level of GTPase IMAP family member 8 in blood" + "Phe-Gly" "autoimmune myocarditis" "protein O-glucosyltransferase 3" "human herpesvirus 8-related tumor" @@ -5318,8 +5318,8 @@ "sphinganine" "GTP-binding protein GEM" "pregnancy-specific beta-1-glycoprotein 6 measurement" - "SM1" "Smooth philtrum" + "SM1" "nerve conduction velocity" "Abnormal erythrocyte morphology" "dilated cardiomyopathy 1GG" @@ -5370,11 +5370,11 @@ "Poppelsdorf ecotype" "obsolete_Moyamoya disease" "Congenital muscular dystrophy due to dystroglycanopathy" - "FL.00 first flower(s) open stage" + "triacylglycerol 56:8 measurement"@en "organic solute transporter subunit beta" "breast invasive ductal carcinoma cell" + "FL.00 first flower(s) open stage" "2-hydroxyacid oxidase 1" - "triacylglycerol 56:8 measurement"@en "obsolete_coronary artery" "obsolete_Bardet-Biedl syndrome" "RCC-4 cell" @@ -5429,8 +5429,8 @@ "protein LAP4" "COLO 849" "obsolete_rhizomelic dysplasia, Patterson-Lowry type" - "risk-taking behaviour" "Burkholderia thailandensis" + "risk-taking behaviour" "cirrhosis of liver" "infectious ectromelia" "cutaneous focal mucinosis" @@ -5447,8 +5447,8 @@ "secreted frizzled-related protein 2" "Hs 675.T" "Yersinia infectious disease" - "thrombomodulin measurement" "Vero" + "thrombomodulin measurement" "floor plate of neural tube" "vasculature of retina" "mononuclear odontoclast" @@ -5479,8 +5479,8 @@ "level of protein ENL in blood" "anaerobic cellulitis" "organophosphate poisoning" - "dissociation protocol" "viral subtype carrier status"@en + "dissociation protocol" "GM14509" "subcutaneous tissue disorder" "Pongo pygmaeus pygmaeus" @@ -5640,8 +5640,8 @@ "SchC6pf-Schulz-Passarge syndrome" "saturated fatty acids measurement " "phosphatidylcholine O-30:0" - "Aplasia/hypoplasia of the femur" "multiple bone fractures" + "Aplasia/hypoplasia of the femur" "level of serine protease inhibitor Kazal-type 13 in blood serum" "familial primary localized cutaneous amyloidosis" "phenylalanine-d8 measurement" @@ -5696,19 +5696,19 @@ "level of 9,10-dihydroxyoctadeca-12,15-dienoic acid in blood plasma" "level of syntaxin-binding protein 4 in blood serum" "homocitrate(3-)" - "obsolete_Shwachman-Diamond syndrome" "Absent epiphyses" "level of polyadenylate-binding protein 2 in blood serum" + "obsolete_Shwachman-Diamond syndrome" "Hs 746T" "neurodevelopmental disorder with microcephaly, ataxia, and seizures" "3-methylglutaconate anion" "esophageal neuroendocrine tumor" "CME-W2" "UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit" - "obsolete_Gaucher disease" "developmental and epileptic encephalopathy, 83" "obsolete primary hereditary glaucoma" "Lepeophtheirus salmonis" + "obsolete_Gaucher disease" "Postaxial polydactyly of toes, bilateral" "gastrula 80%-epiboly" "hydroxyhexadecanoylcarnitine measurement"@en @@ -5751,10 +5751,10 @@ "Leucoraja erinacea" "obsolete_Donnai-Barrow syndrome" "Illumina HiSeq 1000 standard manufacturer's protocol" + "encephalomalacia" "level of cyclin-dependent kinase 2-associated protein 1 in blood serum" "Abnormal platelet aggregation" "dextro-looped transposition of the great arteries" - "encephalomalacia" "Salmonella enterica subsp. enterica serovar Kentucky" "CMRF35-like molecule 1" "apocrine sweat gland" @@ -5767,18 +5767,18 @@ "14q22q23 microdeletion syndrome" "pregnancy" "phosphatidylcholine 39:5 measurement" + "obsolete_Rh deficiency syndrome" "Eca-109 cell" "substance unit" - "obsolete_Rh deficiency syndrome" - "collagen 6-related myopathy" "obsolete_Klippel-Trenaunay syndrome" + "collagen 6-related myopathy" "level of leucine-rich repeat-containing protein 3 in blood serum" "level of methanethiol oxidase in blood serum" "Microcephaly - seizures - intellectual disability - heart disease" - "acute myeloid leukemia, del(5q31-q32)" "Maxillonasal dysplasia" - "Abnormal sex determination" + "acute myeloid leukemia, del(5q31-q32)" "autosomal recessive hereditary sensory and autonomic neuropathy" + "Abnormal sex determination" "flagellin seropositivity" "proteasome-associated autoinflammatory syndrome 5" "Kilquist syndrome" @@ -5831,8 +5831,8 @@ "N(2),N(2)-dimethylguanosine" "level of lengsin in blood serum" "level of mediator of RNA polymerase II transcription subunit 18 in blood" - "Dilated cardiomyopathy" "Porphyrinuria" + "Dilated cardiomyopathy" "immature Vgamma2-positive fetal thymocyte" "capillary infantile hemangioma" "obsolete_Hypermethioninemia due to glycine N-methyltransferase deficiency" @@ -5861,8 +5861,8 @@ "blepharophimosis-impaired intellectual development syndrome" "Lacrimation abnormality" "Jeffries-Lakhani neurodevelopmental syndrome" - "level of protein Red in blood serum" "childhood T lymphoblastic lymphoma" + "level of protein Red in blood serum" "Agrotis ipsilon" "DMS153" "congenital" @@ -5871,8 +5871,8 @@ "Salmonella enterica subsp. enterica serovar Thompson" "level of thioredoxin domain-containing protein 5 in blood serum" "reticulon-4-interacting protein 1" - "uncharacterized protein C1orf50" "level of Ras-related protein Rab-7a in blood serum" + "uncharacterized protein C1orf50" "obsolete_autosomal dominant aplasia and myelodysplasia" "schwannoma of ureter" "obsolete_liver carcinoma" @@ -6034,8 +6034,8 @@ "autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures" "sensory system" "plant growth regulator" - "Hypereosinophilic syndrome" "dystonia 31" + "Hypereosinophilic syndrome" "2-aminoadipic 2-oxoadipic aciduria" "Cystic Nephroma" "distal portion of anterior interventricular branch of left coronary artery" @@ -6048,8 +6048,8 @@ "response to 5-fluorouracil" "isoeugenol sulfate measurement" "negative regulation of sensory perception of pain" - "10-undecenoate 11:1n1 measurement" "Spondyloepiphyseal dysplasia" + "10-undecenoate 11:1n1 measurement" "obsolete_familial clubfoot due to 5q31 microdeletion" "obsolete_Sotos syndrome" "obsolete PIK3CA-related overgrowth syndrome" @@ -6058,8 +6058,8 @@ "Gossypium hirsutum" "embryonic labial sensory complex" "1-oleoylglycerol (18:1) measurement" - "obsolete_cerebrotendinous xanthomatosis" "insulin gene enhancer protein ISL-1" + "obsolete_cerebrotendinous xanthomatosis" "HSD10 disease" "KARPAS-620" "level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 in blood serum" @@ -6110,8 +6110,8 @@ "Autism" "level of 4-hydroxyphenylpyruvate dioxygenase in blood serum" "cerebellar atrophy, visual impairment, and psychomotor retardation;" - "Microcebus murinus" "copy number loss" + "Microcebus murinus" "obsolete_Moynahan syndrome" "conjunctival scar"@en "fetal hemoglobin measurement" @@ -6153,16 +6153,15 @@ "chronic monocytic leukemia" "level of Rho-related GTP-binding protein RhoG in blood serum" "Abnormal biliary tract morphology" - "autosomal recessive nonsyndromic hearing loss 98" "Congenital onychodysplasia" + "autosomal recessive nonsyndromic hearing loss 98" + "level of X-linked retinitis pigmentosa GTPase regulator in blood" "Trypanosoma brucei TREU927" "interleukin-18 receptor 1" - "level of X-linked retinitis pigmentosa GTPase regulator in blood" "Cerebral visual impairment" "total iron binding capacity" "(lyso)-N-acylphosphatidylethanolamine lipase" "obsolete_secondary dysgenetic glaucoma" - "obsolete_autosomal dominant hyperinsulinism due to Kir6.2 deficiency" "UV excision repair protein RAD23 homolog B" "benign male reproductive system neoplasm" "autosomal recessive omodysplasia" @@ -6171,6 +6170,7 @@ "N-lignoceroyl taurine measurement" "Flexion contracture" "hepatosplenic T-cell lymphoma" + "obsolete_autosomal dominant hyperinsulinism due to Kir6.2 deficiency" "toll-like receptor 2 measurement" "anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome" "3-Indolepropionic acid to 2-Methylsuccinic acid ratio" @@ -6209,8 +6209,8 @@ "level of enhancer of filamentation 1 in blood" "obsolete_qualitative or quantitative defects of protein ZASP" "Pseudomonas putida KT2440" - "level of UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 in blood serum" "isthmin-1" + "level of UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 in blood serum" "level of Rho guanine nucleotide exchange factor 25 in blood serum" "obsolete_Th1-cell" "GM17771" @@ -6254,8 +6254,8 @@ "TOV-112D" "obsolete_glial cell (sensu Vertebrata)" "obsolete_hereditary thermosensitive neuropathy" - "Pustule" "level of receptor-type tyrosine-protein phosphatase C in blood" + "Pustule" "transcription factor MafG" "ventral horn of spinal cord" "obsolete_central nervous system" @@ -6498,10 +6498,10 @@ "ulceration of vulva" "Nasu-Hakola disease" "1-palmitoyl-2-arachidonoyl-sn-glycerol" - "obsolete_classic congenital lipoid adrenal hyperplasia due to STAR deficency" "childhood germ cell tumor" - "urine glucose measurement" + "obsolete_classic congenital lipoid adrenal hyperplasia due to STAR deficency" "level of reelin in blood serum" + "urine glucose measurement" "ribonucleoside metabolic process" "torsion dystonia 4" "3-methyl-2-oxovalerate measurement" @@ -6605,15 +6605,15 @@ "obsolete_AXIN2-related attenuated familial adenomatous polyposis" "presbyopia" "obsolete_dermatoosteolysis, Kirghizian type" - "autosomal recessive osteopetrosis 3" "senile cataract" + "autosomal recessive osteopetrosis 3" "trichostatin A" "level of melanoma antigen preferentially expressed in tumors in blood serum" - "facial pigmentation measurement" "macular corneal dystrophy" "level of leucine-rich repeat-containing protein 20 in blood serum" - "heat shock protein beta-6" + "facial pigmentation measurement" "obsolete_Congenital primary lymphedema" + "heat shock protein beta-6" "testicular carcinoma" "FG syndrome 2" "level of cyclin-dependent kinase-like 2 in blood serum" @@ -6705,15 +6705,15 @@ "brassinazole" "obsolete_keratosis follicularis spinulosa decalvans" "diazinon measurement"@en - "intellectual disability, autosomal dominant 2" "obsolete_caudal tuberal nucleus" + "intellectual disability, autosomal dominant 2" "conducting system of heart" "external ear cancer" "glomerular endothelium" "Rare genetic deafness" "glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form" - "osteomodulin measurement" "serotonin" + "osteomodulin measurement" "protein Wnt-5b" "level of ubiquitin-conjugating enzyme E2 Z in blood serum" "Nasal polyposis" @@ -6731,12 +6731,12 @@ "level of lutropin subunit beta in blood serum" "cyanine dye" "Canis lupus" + "GSK3-beta interaction protein measurement" "obsolete_lateral cord surface glia" "immature dermal dendritic cell" "B melanoma antigen 3" "F123-CASTx129" "level of killer cell immunoglobulin-like receptor 2DS2 in blood serum" - "GSK3-beta interaction protein measurement" "tumor necrosis factor measurement"@en "familial partial epilepsy" "Combined immunodeficiency T+ B+ due to partial RAG1 deficiency" @@ -6844,8 +6844,8 @@ "complement factor B measurement" "pyknoachondrogenesis" "neurodevelopmental disorder with impaired language and ataxia and with or without seizures" - "myositis" "obsolete_congenital myopathy with excess of thin filaments" + "myositis" "Retinal capillary hemangioma" "level of isovaleryl-CoA dehydrogenase, mitochondrial in blood" "46,XY sex reversal 6" @@ -6859,8 +6859,8 @@ "diacylglycerol 38:5 measurement" "CPT-seq" "angiographic measurement" - "HUVEC cell line" "SKGT4" + "HUVEC cell line" "level of campesterol 3-beta-D-glucoside in blood serum" "coiled-coil domain-containing protein 24" "myopathy, congenital proximal, with minicore lesions" @@ -6942,8 +6942,8 @@ "obsolete_PTEN hamartoma tumor syndrome" "cartilage intermediate layer protein 1" "indolin-2-one" - "contactin-6" "level of cell adhesion molecule 2 in blood serum" + "contactin-6" "Nathalie syndrome" "transcription regulator protein BACH2" "Ralstonia solanacearum GMI1000" @@ -6999,8 +6999,8 @@ "embryonal extrahepatic bile duct rhabdomyosarcoma" "familial infantile myoclonic epilepsy" "cell surface glycoprotein CD200 receptor 1 measurement" - "epithelioid and spindle cell nevus" "level of carcinoembryonic antigen-related cell adhesion molecule 16 in blood serum" + "epithelioid and spindle cell nevus" "obsolete_X-linked intellectual disability with marfanoid habitus" "Phytophthora infestans" "heterogeneous nuclear ribonucleoprotein H" @@ -7121,9 +7121,9 @@ "tetradecanoate" "biliverdin" "C1GALT1-specific chaperone 1 measurement" + "Autosomal recessive spastic paraplegia type 18" "X-linked intellectual disability-epilepsy syndrome" "coiled-coil domain-containing protein 167 measurement" - "Autosomal recessive spastic paraplegia type 18" "Genetic keratinization disorder associated with ocular features" "tremor-ataxia-central hypomyelination syndrome" "concentration of very small VLDL particles" @@ -7184,8 +7184,8 @@ "bladder urachal adenocarcinoma" "level of CDK5 regulatory subunit-associated protein 3 in blood serum" "3-(5-fluorouracil-1-yl)-L-alanine" - "level of inositol oxygenase in blood serum" "Blood Cell Count Ratio Measurement" + "level of inositol oxygenase in blood serum" "glucagon measurement" "intellectual disability-seizures-macrocephaly-obesity syndrome" "Ovarian Microcystic Stromal Tumor" @@ -7263,9 +7263,9 @@ "wrist fracture" "Genetic skin tumor" "obsolete_T-cell lymphoblastic lymphoma" - "myelofibrosis" "intellectual developmental disorder 61" "level of HERV-H LTR-associating protein 3 in blood serum" + "myelofibrosis" "Lymphoepithelioma-Like Lung Carcinoma" "tissue factor pathway inhibitor 2 measurement" "anticoagulant" @@ -7290,11 +7290,11 @@ "KYSE-180" "Neurothekeoma" "level of Rab GTPase-binding effector protein 1 in blood serum" - "Duodenal Adenocarcinoma" "hereditary spastic paraplegia 28" "oxidative stress biomarker measurement"@en "level of glioma pathogenesis-related protein 1 in blood serum" "obsolete_dorsal raphe nucleus" + "Duodenal Adenocarcinoma" "Commotio Cordis" "Ippy virus" "GM11839" @@ -7308,23 +7308,23 @@ "transient receptor potential cation channel TRPV3" "Sorsby's fundus dystrophy" "obsolete_Hunter-McAlpine craniosynostosis" - "Absence of fingerprints - congenital milia" + "obsolete_primary bone dysplasia with disorganized development of skeletal components" "obsolete_Wolf-Hirschhorn syndrome" + "Absence of fingerprints - congenital milia" + "blood pressure change measurement" "homocitrate(1-)" "level of protein regulator of cytokinesis 1 in blood serum" "Insulin resistance" "Toriello-Carey syndrome" "Cutaneous abscess" "level of tryptase alpha/beta-1 in blood serum" - "blood pressure change measurement" "paragangliomas 4" - "obsolete_primary bone dysplasia with disorganized development of skeletal components" "eosinophilic promyelocyte" "whole-brain volume" "Lesch-Nyhan syndrome" "Hepatic hemangioma" - "SPARC-like protein 1 measurement" "UMC11" + "SPARC-like protein 1 measurement" "coronary artery calcification" "retinal vascular disorder" "2-hydroxyglutaric acid measurement"@en @@ -7369,8 +7369,8 @@ "root caries" "microsatellite instability measurement" "LOXIMVI" - "cyclosporiasis" "obsolete_severe X-linked mitochondrial encephalomyopathy" + "cyclosporiasis" "14 kDa phosphohistidine phosphatase" "myocardial infarction" "transmembrane gamma-carboxyglutamic acid protein 4" @@ -7391,13 +7391,13 @@ "neonatal period electroclinical syndrome" "AP-2 complex subunit alpha-2" "obsolete_encephalopathy due to GLUT1 deficiency" - "RICC-seq" "ALS2-related motor neuron disease" "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8" "South Korea" "Langerhans cell sarcoma" "level of protein FAM163B in blood serum" "level of selenoprotein M in blood serum" + "RICC-seq" "physiological sexual disorder" "obsolete_asthma" "childhood supratentorial ependymoma" @@ -7532,8 +7532,8 @@ "choline change measurement" "EH domain-containing protein 4" "orofacial cleft 6, susceptibility to" - "sample pooling" "calicheamicin gamma1(I)" + "sample pooling" "Trismus - pseudocamptodactyly" "obsolete_Koolen-de Vries syndrome due to a point mutation" "obsolete_hereditary continuous muscle fiber activity" @@ -7557,8 +7557,8 @@ "complement factor H measurement" "sickle cell anemia" "Theiler stage 28" - "CUE domain-containing protein 1" "response to vitamin B3"@en + "CUE domain-containing protein 1" "ribonuclease P protein subunit p40" "obsolete_dorsal telencephalon" "cytokine SCM-1 beta" @@ -7571,8 +7571,8 @@ "obsolete_focal palmoplantar keratoderma with joint keratoses" "Vaginal Squamous Cell Carcinoma" "diacylglycerol 42:7 measurement" - "Jurkat" "CRE-Seq" + "Jurkat" "cold-induced sweating syndrome" "free cholesterol in medium LDL measurement " "herpetic whitlow" @@ -7585,8 +7585,8 @@ "voltage-dependent calcium channel subunit alpha-2/delta-3 measurement" "Canis lupus familiaris" "poly [ADP-ribose] polymerase 1" - "obsolete_Stickler syndrome type 1" "heterogeneous nuclear ribonucleoprotein F" + "obsolete_Stickler syndrome type 1" "obsolete_familial progressive hyperpigmentation" "Macular dystrophy" "interleukin-2" @@ -7595,10 +7595,10 @@ "GM19023" "hair cell posterior macula" "benign endocrine neoplasm" + "obsolete_Leukoencephalopathy - metaphyseal chondrodysplasia" "Joint dislocation" "octadecenedioate (C18:1-DC) measurement" "global developmental delay-osteopenia-ectodermal defect syndrome" - "obsolete_Leukoencephalopathy - metaphyseal chondrodysplasia" "Upturned corners of mouth" "pulmonary embolism" "obsolete_artery" @@ -7723,8 +7723,8 @@ "NKL"@en "level of SAFB-like transcription modulator in blood serum" "GTP-binding protein Di-Ras1" - "craniofacial dysplasia - osteopenia syndrome" "obsolete_proximal renal tubular acidosis" + "craniofacial dysplasia - osteopenia syndrome" "type II hypersensitivity reaction disease" "level of codanin-1 in blood" "caudal duplication" @@ -7738,9 +7738,9 @@ "Abnormality of the anus" "protein S100-A5" "tremor, hereditary essential, 6" + "Erdheim-Chester disease" "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB measurement" "level of carcinoembryonic antigen-related cell adhesion molecule 19 in blood serum" - "Erdheim-Chester disease" "Intellectual disability - balding - patella luxation - acromicria" "level of hypoxanthine-guanine phosphoribosyltransferase in blood serum" "adult acute respiratory distress syndrome" @@ -7815,11 +7815,11 @@ "kynurenate measurement" "n-methyl-2-pyridone-5-carboxamide measurement" "base metabolic rate measurement" - "cerebellar disorder" "adhesion molecule measurement" + "cerebellar disorder" + "appendiceal neoplasm" "acinar cell carcinoma" "fast muscle tissue" - "appendiceal neoplasm" "Usmani-Riazuddin syndrome, autosomal recessive" "level of Phosphatidylcholine (18:1_18:3) in blood serum" "B220-positive CD38-positive unswitched memory B cell" @@ -7832,8 +7832,8 @@ "penis blood vessel" "partial duplication of the long arm of chromosome 8" "Gyps africanus" - "Crohn jejunitis" "thigh muscle volume"@en + "Crohn jejunitis" "obsolete_mesomelic dysplasia, Kantaputra type" "nucleoside triphosphate metabolic process" "Rosselli-Gulienetti syndrome" @@ -7872,6 +7872,7 @@ "GTP-binding protein Di-Ras3" "low-density lipoprotein receptor class A domain-containing protein 4" "heart cancer" + "obsolete_mal de Meleda" "skin disorder caused by infection" "urethral syndrome" "transcription factor HES-3" @@ -7880,7 +7881,6 @@ "syncytiotrophoblast" "level of 40S ribosomal protein S12 in blood serum" "skeletal dysplasia, mild, with joint laxity and advanced bone age" - "obsolete_mal de Meleda" "lipomatous cancer" "Sertoli cell" "cerebral dopamine neurotrophic factor measurement" @@ -7890,8 +7890,8 @@ "X-linked non-syndromic intellectual disability" "Vertigo" "lethal(3)malignant brain tumor-like protein 2" - "Ichthyosis associated with ocular features" "Fusarium solani" + "Ichthyosis associated with ocular features" "acyl-coenzyme A thioesterase 8" "IgA memory B cell" "concentration of medium VLDL particles" @@ -7905,9 +7905,9 @@ "level of 13-hydroxyoctadecadienoic acid in blood plasma" "level of EH domain-binding protein 1 in blood serum" "hereditary sensory and autonomic neuropathy with spastic paraplegia" + "obsolete_congenital unilateral hypoplasia of depressor anguli oris" "V-type proton ATPase subunit C 1" "level of spermatogenesis-associated protein 24 in blood serum" - "obsolete_congenital unilateral hypoplasia of depressor anguli oris" "soluble transferrin receptor measurement" "level of prominin-1 in blood serum" "all-trans-retinol dehydrogenase [NAD(+)] ADH1B" @@ -7956,8 +7956,8 @@ "sn-glycerol 3-phosphate" "small nuclear ribonucleoprotein F measurement" "Ovarian Mixed Epithelial Tumor" - "hereditary spastic paraplegia 11" "Blood Cell Count with Differential" + "hereditary spastic paraplegia 11" "level of MIT domain-containing protein 1 in blood serum" "Crassostrea virginica" "glucose-dependent insulinotropic peptide measurement" @@ -8008,9 +8008,9 @@ "level of fibronectin type III and SPRY domain-containing protein 1 in blood serum" "sulindac" "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion" + "obsolete_Nance-Horan syndrome" "consortin" "multiple mitochondrial dysfunctions syndrome 3" - "obsolete_Nance-Horan syndrome" "Ribose-seq" "anticholesteremic drug" "acute myocarditis" @@ -8072,8 +8072,8 @@ "GM11881" "CB306" "corneal topography" - "proteomic profiling by mass spectrometer" "obsolete coralliform cataract" + "proteomic profiling by mass spectrometer" "leucine-rich repeat and fibronectin type-III domain-containing protein 3" "receptor-type tyrosine-protein phosphatase S" "pleckstrin" @@ -8096,9 +8096,9 @@ "Eosinophilic Myelocyte Count" "matrix metalloproteinase 8 measurement" "W syndrome" + "triacylglycerol 49:1 measurement" "tissue factor measurement"@en "tonsillectomy risk measurement" - "triacylglycerol 49:1 measurement" "disease susceptibility" "postsynaptic density" "obsolete symbiotic process mediated by secreted substance" @@ -8135,8 +8135,8 @@ "atrioventricular node" "interleukin-32" "cholesterol metabolic process" - "Aicardi-Goutieres syndrome 9" "musculoskeletal system benign neoplasm" + "Aicardi-Goutieres syndrome 9" "Benign Skin Appendage Neoplasm" "DnaJ homolog subfamily C member 5B" "Caldicellulosiruptor hydrothermalis" @@ -8159,8 +8159,8 @@ "Rare genetic immune disease" "level of calcium/calmodulin-dependent protein kinase II inhibitor 2 in blood serum" "Aortic arch anomaly - peculiar facies - intellectual disability" - "plantaris" "eicosapentaenoate EPA; 20:5n3 measurement" + "plantaris" "disorder of carbohydrate transmembrane transport and absorption" "Paralysis, Obstetric" "Bencze syndrome" @@ -8194,8 +8194,8 @@ "obsolete_tooth 4V" "obesity due to congenital leptin deficiency" "congenital achiasma" - "level of carbohydrate sulfotransferase 5 in blood serum" "obsolete_heart-hand syndrome" + "level of carbohydrate sulfotransferase 5 in blood serum" "chymotrypsin-like elastase family member 3A" "Mobala virus" "dodecanedioic acid" @@ -8239,10 +8239,10 @@ "amebic dysentery" "middle ear carcinoma" "obsolete_autosomal dominant chondrodysplasia punctata" - "obsolete_trisomy 13" "level of nuclear pore membrane glycoprotein 210-like in blood serum" "level of embryonal Fyn-associated substrate in blood serum" "desmoplastic infantile astrocytoma" + "obsolete_trisomy 13" "deoxyhypusine synthase" "clear cell sarcoma" "Streptomyces lividans" @@ -8253,11 +8253,11 @@ "zinc finger protein 174" "obsolete_von Willebrand disease type 2N" "CS57644" - "protocadherin beta-4 measurement" "Constitutional sideroblastic anemia" + "protocadherin beta-4 measurement" + "Hereditary cerebral hemorrhage with amyloidosis, Piedmont type" "obsolete_hereditary thrombocytopenia with normal platelets" "Xq25 microduplication syndrome" - "Hereditary cerebral hemorrhage with amyloidosis, Piedmont type" "level of beta-arrestin-1 in blood serum" "level of Phosphatidylinositol (18:0_20:4) in blood serum" "trombiculiasis" @@ -8363,8 +8363,8 @@ "level of killer cell immunoglobulin-like receptor 3DL1 in blood serum" "GM19025" "GTP-binding protein Di-Ras3 measurement" - "ExSeq" "root epidermis" + "ExSeq" "central nervous system organ benign neoplasm" "developmental and epileptic encephalopathy, 61" "RNA polymerase II subunit A C-terminal domain phosphatase SSU72" @@ -8382,8 +8382,8 @@ "3-phosphoinositide-dependent protein kinase 1 measurement" "obsolete chronic polyradiculoneuropathy" "obsolete_syndromic visceral malformation" - "cyclin-dependent kinase 2-interacting protein" "interleukin-37 measurement" + "cyclin-dependent kinase 2-interacting protein" "obsolete_pseudoprogeria syndrome" "pyogenic granuloma" "macrosomia-microphthalmia-cleft palate syndrome" @@ -8393,13 +8393,13 @@ "reciprocal translocation" "Abnormal retinal morphology" "gamma-glutamyl hydrolase measurement" - "ribonucleoside-diphosphate reductase subunit M2" "X-23157 measurement" + "ribonucleoside-diphosphate reductase subunit M2" "huntingtin-interacting protein M" "Reduced left ventricular ejection fraction" "level of probable inactive serine protease 37 in blood serum" - "mite infestation" "gastric adenosquamous carcinoma" + "mite infestation" "homocysteine" "level of BEN domain-containing protein 6 in blood serum" "bent bone dysplasia" @@ -8421,14 +8421,14 @@ "transmembrane emp24 domain-containing protein 4 measurement" "level of glycolipid transfer protein in blood serum" "anxiety disorder" + "level of kinesin-like protein KIF16B in blood" "obsolete_Ichthyosis follicularis - alopecia - photophobia" "obsolete_pantothenate kinase-associated neurodegeneration" - "level of kinesin-like protein KIF16B in blood" - "epiphycan measurement" "total lipids in IDL" "HCC95" "Cowden syndrome 1" "SW620" + "epiphycan measurement" "infantile liver failure syndrome 1" "cardiomyopathy, dilated, 1LL" "level of BRICHOS domain-containing protein 5 (human) in blood serum" @@ -8449,9 +8449,9 @@ "level of carcinoembryonic antigen-related cell adhesion molecule 20 in blood serum" "level of talin rod domain-containing protein 1 in blood serum" "level of phospholipase A and acyltransferase 2 in blood serum" - "obsolete_progressive retinal dystrophy due to retinol transport defect" - "hyperopia" "3-hydroxydecanoate measurement" + "hyperopia" + "obsolete_progressive retinal dystrophy due to retinol transport defect" "phosphatidylcholine diacyl C40:4 measurement" "osteocrin" "familial amyotrophic lateral sclerosis" @@ -8525,10 +8525,10 @@ "Streptococcus mutans" "citrus intake measurement"@en "Antimigraine preparation use measurement" + "neuralgia" "urinary albumin to creatinine ratio" "islet amyloid polypeptide" "thyroid gland oncocytic adenoma" - "neuralgia" "global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome" "mature B cell" "obsolete endometrial hyperplasia" @@ -8574,6 +8574,7 @@ "perinatal disease" "level of calbindin in blood serum" "Neurodegenerative disease with chorea" + "phosphate-to-erythronate ratio" "gastritis" "n-methylnicotinic acid measurement" "hysterectomy" @@ -8581,7 +8582,6 @@ "obsolete_juvenile stage" "COG1-congenital disorder of glycosylation" "B220-low CD38-positive unswitched memory B cell" - "phosphate-to-erythronate ratio" "intermediate severe Salla disease" "Caffey disease" "triglycerides to total lipids in large HDL percentage " @@ -8618,8 +8618,8 @@ "level of EH domain-containing protein 1 in blood serum" "margaroylcarnitine (C17) measurement" "obsolete presynaptic congenital myasthenic syndrome" - "cherubism" "renal cell carcinoma, Xp11-associated" + "cherubism" "post-COVID-19 disorder" "V-type proton ATPase subunit C 2" "level of BTB/POZ domain-containing protein KCTD17 in blood serum" @@ -8636,15 +8636,15 @@ "rhombomere 4 floor plate" "Hypoplasia of deltoid muscle" "atrium auricular region" - "obsolete_congenital stromal corneal dystrophy" "obsolete_lobar holoprosencephaly" + "obsolete_congenital stromal corneal dystrophy" "protein kinase b alpha/beta/gamma measurement" "platelet glycoprotein VI measurement" "dourine" + "level of citron Rho-interacting kinase in blood" "skin disease caused by bacterial infection" "nephrogenic diabetes insipidus" "ADP-sugar pyrophosphatase" - "level of citron Rho-interacting kinase in blood" "head kidney" "infantile osteopetrosis with neuroaxonal dysplasia" "leiomodin-1" @@ -8669,9 +8669,9 @@ "GATA5-related congenital heart defects" "obsolete_floor plate" "CS57776" - "SC-1" "gallbladder lipoma" "Malpighian tubule main body primordium" + "SC-1" "childhood cerebral astrocytoma" "squamous cell carcinoma of the corpus uteri" "carnosine measurement"@en @@ -8703,8 +8703,8 @@ "gastrula 75%-epiboly" "ciliary dyskinesia, primary, 40" "SLAM family member 8" - "level of TSC22 domain family protein 3 in blood" "blood vessel" + "level of TSC22 domain family protein 3 in blood" "plasma fibronectin deficiency" "level of uridine-cytidine kinase 2 in blood serum" "autosomal dominant striatal neurodegeneration type 1" @@ -8804,9 +8804,9 @@ "obsolete_dappled diaphyseal dysplasia" "total lipids in medium VLDL" "Fos-related antigen 2" + "ubiquitin-conjugating enzyme E2 N measurement" "NCI-H2171" "response gene to complement 32 protein" - "ubiquitin-conjugating enzyme E2 N measurement" "cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome" "zileuton" "level of 12,13-dihydroxyoctadec-9-enoic acid in blood plasma" @@ -8851,11 +8851,11 @@ "sodium-independent sulfate anion transporter" "cholesterol to total lipids in medium VLDL percentage " "hepatotoxicity" + "obsolete_mevalonic aciduria" "dietary vitamin B1 intake measurement" "progressive multifocal leukoencephalopathy" "alanyl-tRNA editing protein Aarsd1" "level of DnaJ homolog subfamily C member 18 in blood serum" - "obsolete_mevalonic aciduria" "levulinate 4-oxovalerate measurement" "nucleus accumbens-associated protein 1" "protein disulfide-isomerase TXNDC10" @@ -8871,8 +8871,8 @@ "Xeroderma pigmentosum complementation group A" "chronic shoulder pain"@en "L-Asparagine anhydrous measurement" - "level of sphingomyelin phosphodiesterase in blood" "obsolete_methylmalonic acidemia with homocystinuria, type cblX" + "level of sphingomyelin phosphodiesterase in blood" "immunoglobulin complex" "level of microphthalmia-associated transcription factor in blood serum" "thiamine-responsive dysfunction syndrome" @@ -8884,8 +8884,8 @@ "obsolete interaction with host via secreted substance" "childhood electroclinical syndrome" "sperm-associated antigen 11B" - "obsolete Heimler syndrome" "obsolete_partial deletion of the short arm of chromosome 2" + "obsolete Heimler syndrome" "OCI-LY3" "ABCA4-related retinopathy" "RNA-Seq" @@ -9026,8 +9026,8 @@ "quinone oxidoreductase PIG3" "protocadherin gamma-C5 measurement" "metachromatic leukodystrophy" - "obsolete_Grubben-de Cock-Borghgraef syndrome" "X-16649 measurement" + "obsolete_Grubben-de Cock-Borghgraef syndrome" "Synechococcus elongatus" "obsolete_alopecia totalis" "syngnathia-cleft palate syndrome" @@ -9071,9 +9071,9 @@ "trochanter" "Blepharophimosis - epicanthus inversus - ptosis due to a point mutation" "obsolete_vein" - "tympanic membrane disease" "T+ B+ severe combined immunodeficiency" "kazrin" + "tympanic membrane disease" "Paracoccidioides brasiliensis" "Stickler syndrome type 1" "gonococcal iridocyclitis" @@ -9094,8 +9094,8 @@ "N'Dama" "Atelis syndrome" "beta-lactam" - "gentisate measurement" "obsolete_dyskeratosis congenita" + "gentisate measurement" "Limb muscle weakness" "linoleate 18:2n6-to-X-12442-5,8-tetradecadienoate ratio"@en "46,XX disorder of sex development-anorectal anomalies syndrome" @@ -9123,8 +9123,8 @@ "pancreatic serous cystadenoma" "interleukin-4 receptor subunit alpha measurement" "level of kinesin-like protein KIF22 in blood" - "prostatic acid phosphatase" "kinetochore protein Spc25" + "prostatic acid phosphatase" "renal hypomagnesemia 5 with ocular involvement" "brachial plexus neuritis" "total cholesterol in medium VLDL" @@ -9143,8 +9143,8 @@ "supravalvular aortic stenosis" "fasudil hydrochloride" "obsolete_Madras motor neuron disease" - "Increased susceptibility to fractures" "neural cell adhesion molecule 2 measurement" + "Increased susceptibility to fractures" "obsolete_familial thoracic aortic aneurysm and aortic dissection" "level of elongin-B in blood" "obsolete isolated punctate palmoplantar keratoderma" @@ -9224,13 +9224,13 @@ "infective vaginitis" "carcinoma ex pleomorphic adenoma" "CL1-0 cell" - "obsolete_LAMB2-related infantile-onset nephrotic syndrome" "retinal cell" + "obsolete_LAMB2-related infantile-onset nephrotic syndrome" "obsolete_hypothyroidism due to deficient transcription factors involved in pituitary development or function" "Camptodactyly" "right aortic arch" - "protein FAM162B" "ichthyosiform erythroderma, corneal involvement, and hearing loss" + "protein FAM162B" "stearoyl-arachidonoyl-glycerophosphoinositol (1) measurement" "receptor-interacting serine/threonine-protein kinase 2 measurement" "transaldolase deficiency" @@ -9272,8 +9272,8 @@ "Nematoda infectious disease" "Spinal muscular atrophy - Dandy-Walker malformation - cataracts" "helping behavior measurement" - "E3 ubiquitin-protein ligase TRIM62" "pit and fissure surface dental caries" + "E3 ubiquitin-protein ligase TRIM62" "urachus epithelium" "scoliosis" "carpel" @@ -9318,9 +9318,9 @@ "Glycogen storage disease with hypertrophic cardiomyopathy" "level of protein FAM151B in blood serum" "level of Ras-related protein Rab-22A in blood serum" - "Skull Fractures" "Trident hand" "3-hydroxy-2-methylpyridine sulfate measurement" + "Skull Fractures" "fatty acid-binding protein, heart measurement" "transmembrane gamma-carboxyglutamic acid protein 4 measurement" "embryonic stage 14" @@ -9373,9 +9373,9 @@ "aleurone layer" "level of Sterol ester (27:1/16:1) in blood serum" "Oscheius tipulae" + "obsolete_Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type" "V-type proton ATPase subunit D" "snowflake vitreoretinal degeneration" - "obsolete_Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type" "Ataxia - oculomotor apraxia type 1" "n-acetylglutamate synthase, mitochondrial measurement" "JT709" @@ -9389,13 +9389,13 @@ "hyperemesis gravidarum, susceptibility to" "Profound sensorineural hearing impairment" "Hallux varus - preaxial polysyndactyly" - "lower respiratory tract disease" "Reoviridae infectious disease" + "lower respiratory tract disease" "level of SWI/SNF complex subunit SMARCC1 in blood serum" "Portal vein thrombosis" "N-acetylgalactosamine-4-sulfatase activity" - "1A2" "obsolete_alobar holoprosencephaly" + "1A2" "protein kinase c alpha type measurement" "level of nucleosome assembly protein 1-like 2 in blood serum" "hypogonadotropic hypogonadism-frontoparietal alopecia syndrome" @@ -9514,8 +9514,8 @@ "partial duplication of the short arm of chromosome 19" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" "RNA binding protein fox-1 homolog 1" - "response to ximelagatran" "obsolete_odonto-onycho-dermal dysplasia" + "response to ximelagatran" "hemangioma of gingiva" "synpolydactyly type 1" "X-linked diffuse leiomyomatosis - Alport syndrome" @@ -9539,8 +9539,8 @@ "glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1" "level of Ipurolic acid in blood serum" "5637" - "obsolete_paroxysmal dystonia" "level of beta-soluble NSF attachment protein in blood serum" + "obsolete_paroxysmal dystonia" "vascular neoplasm" "peroxisomal coenzyme A diphosphatase NUDT7" "integrin alpha-5 measurement" @@ -9572,19 +9572,19 @@ "chenodeoxycholate measurement"@en "Phenylalanine-d8" "obsolete syndromic urogenital tract malformation" - "Hereditary cerebral hemorrhage with amyloidosis, Italian type" "Craniofrontonasal dysplasia" "corpus collosum mid-posterior volume measurement"@en "level of C-X-C motif chemokine 17 in blood serum" + "Hereditary cerebral hemorrhage with amyloidosis, Italian type" "Pili torti - developmental delay - neurological abnormalities" "C-C motif chemokine 22 measurement" "3-methyladipic acid measurement"@en "Immature Plasma Cell Count" "Cercocebus atys" "Felty's syndrome" + "level of spermine synthase in blood" "WIDR" "Kohlschutter-Tonz syndrome-like" - "level of spermine synthase in blood" "tyrosinemia type II" "chronic conjunctivitis" "toxic or drug-related embryofetopathy" @@ -9668,9 +9668,9 @@ "Recurrent thrombophlebitis" "response to camptothecin" "Microduplication Xp11.22-p11.23 syndrome" - "Peliosis Hepatis" "level of transmembrane protein 119 in blood serum" "level of Kunitz-type protease inhibitor 3 in blood serum" + "Peliosis Hepatis" "Arthroderma benhamiae" "NCI-H226" "waist height ratio" @@ -9802,10 +9802,10 @@ "thoracic cancer" "obsolete_spinocerebellar ataxia type 10" "KANNO antigen measurement" - "protein kish-A" - "pseudoprogeria syndrome" "obsolete_regressive spondylometaphyseal dysplasia" + "protein kish-A" "galactoside 3(4)-L-fucosyltransferase measurement" + "pseudoprogeria syndrome" "GM08398" "spermatogenic failure 23" "cobblestone lissencephaly" @@ -9898,8 +9898,8 @@ "level of sulfotransferase 6B1 in blood serum" "Menorrhagia" "GM17206" - "GM17134" "laminin subunit alpha-3" + "GM17134" "level of sphingomyelin d18:1/18:1 in blood" "level of killer cell immunoglobulin-like receptor 2DL3 in blood" "Vocal cord paralysis" @@ -9942,10 +9942,10 @@ "duodenal neuroendocrine neoplasm" "obsolete_syndromic hyperopia" "hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" + "obsolete_alpha-mannosidosis" "anterior segment dysgenesis 7" "chromosome 17q23.1-q23.2 deletion syndrome" "mannose" - "obsolete_alpha-mannosidosis" "Bacteroides thetaiotaomicron VPI-5482" "obsolete_animal component" "obsolete_neutral lipid storage myopathy" @@ -9971,17 +9971,17 @@ "adenylosuccinate synthetase isozyme 2 measurement" "nervous system cancer" "level of sphingomyelin" + "Scleroderma Polymyositis Overlap Syndrome" + "Ovarian Tumor of the Thecoma/Fibroma Group" "nephronophthisis 3" "short stature-wormian bones-dextrocardia syndrome" - "Ovarian Tumor of the Thecoma/Fibroma Group" "Neutrophilic Myelocyte Count" + "Rickettsia prowazekii Rp22" "Janus kinase and microtubule-interacting protein 3" "Flattened epiphysis" "obsolete X and Y chromosomal anomaly" "opioid dependence, susceptibility to, 1" "sulfide quinone oxidoreductase deficiency" - "Rickettsia prowazekii Rp22" - "Scleroderma Polymyositis Overlap Syndrome" "ureter leiomyoma" "obsolete_diazoxide-resistant hyperinsulinism" "Plantar Fasciitis" @@ -9996,8 +9996,8 @@ "filaggrin gene expression measurement"@en "meningococcal meningitis" "renal tuberculosis" - "fibroblastic disorder" "Autosomal recessive dopa-responsive dystonia" + "fibroblastic disorder" "Boran cattle" "memory B cell" "level of dual specificity protein phosphatase 3 in blood" @@ -10103,8 +10103,8 @@ "disintegrin and metalloproteinase domain-containing protein 29 measurement" "L-Leucine measurement" "advanced glycosylation end product-specific receptor ligand measurement" - "splenic manifestation of prolymphocytic leukemia" "Ovalocyte Count" + "splenic manifestation of prolymphocytic leukemia" "Stevens-Johnson syndrome" "homogentisic acid" "Hypoalbuminemia" @@ -10230,8 +10230,8 @@ "clinical and behavioural ideal cardiovascular health" "eccrine carcinoma" "obsolete_cheirospondyloenchondromatosis" - "Circoviridae Infections" "level of glutamate receptor ionotropic, NMDA 2B in blood" + "Circoviridae Infections" "ubiquitin-fold modifier-conjugating enzyme 1 measurement" "congenital primary megaureter, obstructed form" "syndactyly type 3" @@ -10255,8 +10255,8 @@ "C57BL/6"@en "639V" "SH3KBP1-binding protein 1" - "obsolete_midline interhemispheric variant of holoprosencephaly" "GM17759" + "obsolete_midline interhemispheric variant of holoprosencephaly" "fructose-bisphosphate aldolase C" "migraine with aura" "achondrogenesis type IA" @@ -10298,15 +10298,15 @@ "level of secretoglobin family 1D member 2 in blood serum" "Hepatomegaly" "glycoprotein metabolic process" - "Autosomal dominant hyper-IgE syndrome" "OCI-M1" + "Autosomal dominant hyper-IgE syndrome" "C-type lectin domain family 4 member D measurement" "hypoplastic left heart syndrome 1" "adenosquamous breast carcinoma" "acquired coagulation factor deficiency" "obsolete_vertical myoseptum" - "CREB-binding protein measurement" "obsolete_CAMOS syndrome" + "CREB-binding protein measurement" "level of urocortin-3 in blood serum" "level of disheveled-associated activator of morphogenesis 1 in blood" "protein FAM50A" @@ -10336,8 +10336,8 @@ "Hsc70-interacting protein" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2P" "obsolete_thanatophoric dysplasia type 2" - "pallidum volume" "prostate-associated microseminoprotein measurement" + "pallidum volume" "protein kinase C and casein kinase substrate in neurons protein 3" "squamous cell intraepithelial neoplasia" "level of follistatin-related protein 5 in blood serum" @@ -10370,17 +10370,17 @@ "metastatic squamous cell carcinoma" "retinitis pigmentosa 90" "hippocampal neuron" - "obsolete_isolated ankyloblepharon filiforme adnatum" "obsolete_congenital non-communicating hydrocephalus" "obsolete_symptomatic form of hemophilia B in female carriers" "obsolete Toe walking" "Major Salivary Gland Carcinoma" + "obsolete_isolated ankyloblepharon filiforme adnatum" "pyridoxal kinase measurement" "2-deoxy-D-glucose" "fasting blood glucose measurement" "LIG4 syndrome" - "reticulon-4 measurement" "obsolete_collective leaf structure" + "reticulon-4 measurement" "aorta angiosarcoma" "collagen alpha-2(XI) chain" "Carica papaya" @@ -10406,8 +10406,8 @@ "fructose 1-phosphate" "level of acyl-coenzyme A thioesterase 13 in blood serum" "tropomodulin-3" - "diffuse esophageal spasm" "Mullegama-Klein-Martinez syndrome" + "diffuse esophageal spasm" "advanced heart failure" "Fallot complex - intellectual disability - growth delay" "spastic tetraplegia and axial hypotonia, progressive" @@ -10472,22 +10472,22 @@ "ovarian mucinous neoplasm" "Fc receptor-like protein 6" "E3 ubiquitin-protein ligase RNF34 measurement" - "X-16938 measurement" "pseudorabies" "DNA dC->dU-editing enzyme APOBEC-3G" + "X-16938 measurement" "8-(3-chlorostyryl)caffeine" "adipose tissue derived mesenchymal stem cell" "respiratory gaseous exchange by respiratory system" + "obsolete_Pelizaeus-Merzbacher disease" "Parkinsonism" "level of peripheral plasma membrane protein CASK in blood serum" - "obsolete_Pelizaeus-Merzbacher disease" - "acute myeloid leukemia, Monosomy 7" "obsolete_congenital primary megaureter, nonrefluxing and unobstructed form" + "acute myeloid leukemia, Monosomy 7" "Meckel syndrome, type 3" + "SNARE-associated protein Snapin measurement" "phytanoyl-CoA hydroxylase-interacting protein-like" "neoplasm" "obsolete_male accessory gland" - "SNARE-associated protein Snapin measurement" "X-linked dominant intellectual disability-epilepsy syndrome" "obsolete_gene" "lobular breast carcinoma" @@ -10528,10 +10528,10 @@ "spermatogenic failure 24" "turnpenny-fry syndrome" "DeSanto-Shinawi syndrome" - "level of paxillin in blood" "homeobox protein Meis2" - "level of Gly-Tyr in blood" + "level of paxillin in blood" "persistent truncus arteriosus" + "level of Gly-Tyr in blood" "Populus tremula x Populus tremuloides" "lysophosphatidylethanolamine 16:0 measurement"@en "pentachloronitrobenzene" @@ -10554,8 +10554,8 @@ "obsolete_interleukin 12 receptor subunit beta-1 measurement" "purulent acute otitis media" "psychosine" - "level of zona pellucida sperm-binding protein 3 in blood" "MOB kinase activator 1B" + "level of zona pellucida sperm-binding protein 3 in blood" "Rap guanine nucleotide exchange factor 2" "obsolete_SELEX" "Butyrivibrio proteoclasticus B316" @@ -10611,10 +10611,10 @@ "cadherin-4" "obsolete_hereditary stomatocytosis" "isoleucine measurement" + "protein s100-a9 measurement" "level of Golgi membrane protein 1 in blood serum" "Fc receptor-like B" "benign meningioma" - "protein s100-a9 measurement" "level of von Hippel-Lindau-like protein in blood serum" "level of Rho guanine nucleotide exchange factor TIAM2 in blood serum" "zinc finger protein 696" @@ -10663,8 +10663,8 @@ "Waardenburg syndrome, IIa 2F" "limb bone" "Sclerodermatomyositis" - "obsolete_ataxia neuropathy spectrum" "obsolete_type I diabetes mellitus" + "obsolete_ataxia neuropathy spectrum" "primary hyperoxaluria" "beta-citrylglutamate measurement" "acetazolamide" @@ -10675,8 +10675,8 @@ "NCI-H716" "left ventricular diastolic function measurement" "obsolete_fleck corneal dystrophy" - "obsolete_syndromic keratoconus" "appendix neuroendocrine neoplasm" + "obsolete_syndromic keratoconus" "obsolete_posttemporal" "essential strabismus" "obsolete Chitotriosidase deficiency" @@ -10710,11 +10710,11 @@ "growth hormone treatment" "CH12.LX" "CLN8 disease" - "obsolete_bilateral renal agenesis" "level of paralemmin in blood serum" - "beta-Nicotinamide mononucleotide measurement" "40s ribosomal protein SA measurement" + "obsolete_bilateral renal agenesis" "level of lung adenoma susceptibility protein 2 in blood serum" + "beta-Nicotinamide mononucleotide measurement" "CRISPR-UMI" "lung benign neoplasm" "level of sushi domain-containing protein 3 in blood serum" @@ -10764,8 +10764,8 @@ "Narrow forehead" "non-SCID combined immunodeficiency" "talin-2" - "haloperidol" "Dysostosis of genetic origin with limb anomaly as a major feature" + "haloperidol" "level of eukaryotic-type lysine--tRNA ligase in blood serum" "Hodgkins lymphoma, mixed cellularity" "Genetic frontotemporal degeneration with dementia" @@ -10789,14 +10789,14 @@ "level of astacin-like metalloendopeptidase in blood serum" "4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one" "obsolete_SLC35A1-CDG" - "Mowat-Wilson syndrome due to a ZEB2 point mutation" "azelaoyltaurine measurement" + "Mowat-Wilson syndrome due to a ZEB2 point mutation" "propionic acidemia" "benign infantile focal epilepsy with midline spikes and wave during sleep" "femur-fibula-ulna complex" "N-methylformamide" - "Desminopathy" "fungal component" + "Desminopathy" "Autosomal dominant spastic paraplegia type 10" "DNA-binding protein inhibitor ID-2" "obsolete_X-linked intellectual disability, Kroes type" @@ -10807,8 +10807,8 @@ "retroperitoneal cancer" "level of serine/threonine-protein phosphatase 4 regulatory subunit 3A in blood serum" "obsolete_congenital tracheal stenosis" - "obsolete_hereditary glaucoma" "decubitus ulcer" + "obsolete_hereditary glaucoma" "corpus callosum agenesis-abnormal genitalia syndrome" "hypogonadotropic hypogonadism-retinitis pigmentosa syndrome" "Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder" @@ -10863,8 +10863,8 @@ "obsolete_aspartylglucosaminuria" "obsolete_coronory artery calcification" "tyrosol 4-sulfate measurement" - "total parenteral nutrition" "aortic arch defects" + "total parenteral nutrition" "3-hydroxy-1-methylpropylmercapturic acid measurement" "uncharacterized protein KIAA1143" "GM07034" @@ -10966,10 +10966,10 @@ "familial primary hypomagnesemia with hypocalcuria" "TF1 cell" "Glycogen storage disease due to phosphoglucomutase deficiency" - "obsolete_Johanson-Blizzard syndrome" "sepiapterin reductase measurement" - "obsolete_high anorectal malformation" + "obsolete_Johanson-Blizzard syndrome" "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis" + "obsolete_high anorectal malformation" "C-type lectin domain family 6 member A measurement" "GM17758" "adenosquamous bile duct carcinoma" @@ -11135,14 +11135,14 @@ "atypical coarctation of aorta" "noninfective encephalitis"@en "innate immune response" + "obsolete_benign Samaritan congenital myopathy" "trait in response to cytarabine" + "pharyngeal squamous cell carcinoma" "Rubinstein-Taybi syndrome" "milliliter" "R-spondin-1" "Solanum tuberosum" "Ambiguous genitalia" - "obsolete_benign Samaritan congenital myopathy" - "pharyngeal squamous cell carcinoma" "level of endophilin-B1 in blood serum" "level of cell surface hyaluronidase in blood" "monoblast" @@ -11189,11 +11189,11 @@ "fatty acid-binding protein, liver measurement" "spermatogenic failure 25" "musculoskeletal toxicity" + "Spondylocarpotarsal synostosis" "pulmonary blastoma" "2-hydroxy-3-methylbutyrate" "level of interleukin-1 alpha in blood serum" "X-16944 measurement" - "Spondylocarpotarsal synostosis" "level of Ras-related protein Rab-10 in blood" "endosialin" "level of Thr-Phe in blood" @@ -11216,8 +11216,8 @@ "epithelial neoplasm of rectum" "Salmonella enterica subsp. enterica serovar Newport" "neuronal pentraxin receptor" - "nimesulide" "absence of fingerprints-congenital milia syndrome" + "nimesulide" "CUT&RUN" "level of bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 in blood serum" "atrial fibrillation" @@ -11282,8 +11282,8 @@ "death-associated protein kinase 3" "Corneal astigmatism" "midkine measurement" - "polyunsaturated fatty acid measurement"@en "pleckstrin homology domain-containing family B member 1" + "polyunsaturated fatty acid measurement"@en "GM17204" "Abnormal cerebellar vermis morphology" "frizzled-10" @@ -11295,10 +11295,10 @@ "hereditary motor and sensory neuropathy with acrodystrophy" "triiodothyronine measurement" "glioblastoma" - "INSeq" "level of tumor necrosis factor receptor superfamily member 1A in blood serum" "Ras-related protein Rab-1B" "ureter urothelial papilloma" + "INSeq" "developmentally-regulated GTP-binding protein 1" "tubulin polymerization-promoting protein family member 2" "obsolete_X-linked distal spinal muscular atrophy" @@ -11312,8 +11312,8 @@ "membrane-bound aminopeptidase P measurement" "negative regulation of mitotic nuclear division" "level of synaptosomal-associated protein 29 in blood serum" - "Constitutional hemolytic anemia due to acanthocytosis" "concentration of" + "Constitutional hemolytic anemia due to acanthocytosis" "level of nucleotide triphosphate diphosphatase in blood serum" "level of Golgi phosphoprotein 3 in blood serum" "protein set measurement" @@ -11325,9 +11325,9 @@ "Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation" "obsolete_progressive myoclonic epilepsy with dystonia" "peptidase inhibitor 15" - "oromandibular dystonia" "obsolete_mandible" "pyropoikilocytosis, hereditary" + "oromandibular dystonia" "obsolete_experiment" "sea-blue histiocyte syndrome" "obsolete_Alport syndrome" @@ -11361,12 +11361,12 @@ "lacrimal gland adenocarcinoma" "putative uncharacterized protein TXNRD3NB" "benign neoplasm of heart" - "episodic ataxia type 2" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2I" + "episodic ataxia type 2" + "obsolete_familial hypodysfibrinogenemia" "obsolete_Monosomy 13q14" "fetal genotype effect measurement" "acute laryngitis" - "obsolete_familial hypodysfibrinogenemia" "familial isolated deficiency of vitamin E" "obsolete_posterior amorphous corneal dystrophy" "response to corticosteroid" @@ -11410,8 +11410,8 @@ "histone H1x measurement" "PFSK-1" "level of palmdelphin in blood serum" - "beta-Pseudouridine measurement" "Infundibulopelvic stenosis - multicystic kidney" + "beta-Pseudouridine measurement" "MLE-15" "adipocyte" "obsolete_congenital absence of thigh and lower leg with foot present" @@ -11447,9 +11447,9 @@ "Subacute Combined Degeneration" "level of inactive C-alpha-formylglycine-generating enzyme 2 in blood serum" "obsolete_presumptive forebrain midbrain boundary" - "response to lithium ion" "central nervous system hematopoietic neoplasm" "musculin" + "response to lithium ion" "Subglottic stenosis" "cholesterol esters in large LDL measurement" "GM00232"@en @@ -11467,9 +11467,9 @@ "level of methyltransferase-like protein 11A in blood serum" "DNA dC->dU-editing enzyme APOBEC-3G measurement" "electroneutral sodium bicarbonate exchanger 1" + "caspase-8 measurement" "level of protein S100-A8 in blood serum" "Precursor Plasma Cell Count" - "caspase-8 measurement" "autosomal recessive severe congenital neutropenia" "non-infectious anterior uveitis" "Porphyromonas gingivalis" @@ -11595,8 +11595,8 @@ "tumor necrosis factor receptor II measurement" "morning glory syndrome" "lysophosphatidylethanolamine" - "obsolete_atypical hemolytic-uremic syndrome with anti-factor H antibodies" "ependymal tumor of spinal cord" + "obsolete_atypical hemolytic-uremic syndrome with anti-factor H antibodies" "blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome" "fibroblast growth factor 10 measurement" "MOGS-congenital disorder of glycosylation" @@ -11683,8 +11683,8 @@ "central gray substance of midbrain" "Inverse Klippel-Trénaunay syndrome" "Neurological conditions associated with aminoacylase 1 deficiency" - "level of tyrosine-protein kinase TXK in blood" "cathepsin K" + "level of tyrosine-protein kinase TXK in blood" "elevated lactate dehydrogenase" "1-benzofuran" "level of linker for activation of T-cells family member 2 in blood serum" @@ -11733,8 +11733,8 @@ "level of S-adenosylmethionine sensor upstream of mTORC1 in blood serum" "obsolete_tooth" "Odontomatosis - aortae esophagus stenosis" - "total early-onset cataract" "obsolete_Normosmic congenital hypogonadotropic hypogonadism" + "total early-onset cataract" "CL-40" "oocyte maturation defect 9" "CS57625" @@ -11792,8 +11792,8 @@ "glycine metabolism disease" "Gonadal dysgenesis of gynecological interest" "Paraplegia" - "liter" "obsolete_Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency" + "liter" "myeloid lineage restricted progenitor cell" "rectosigmoid adenocarcinoma" "mature eosinophil" @@ -11870,9 +11870,9 @@ "leucine-rich repeat-containing protein 4C measurement" "malate(2-)" "hypospadias-intellectual disability, Goldblatt type syndrome" + "heterogeneous nuclear ribonucleoproteins C1/C2 measurement" "in situ HiC" "parathyroid hormone secretion" - "heterogeneous nuclear ribonucleoproteins C1/C2 measurement" "obsolete_autosomal dominant spastic ataxia" "obsolete_atrioventricular node" "erythroleukemia cell" @@ -11979,10 +11979,10 @@ "cadherin-7" "serum urea measurement" "protein wnt-7a measurement" - "multidrug-resistant tuberculosis" "level of TGF-beta 1 in blood" "obsolete_dorsal root ganglion" "obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect" + "multidrug-resistant tuberculosis" "pontocerebellar hypoplasia type 1" "CODAS syndrome" "BLOC-1-related complex subunit 5" @@ -12061,8 +12061,8 @@ "obsolete_Beta-propeller protein-associated neurodegeneration" "citrin deficiency" "level of nucleobindin-2 in blood" - "FL.01 1/4 of flowers open stage" "adipocyte plasma membrane-associated protein measurement" + "FL.01 1/4 of flowers open stage" "scopolamine methobromide" "sleep-related hypermotor epilepsy" "mucinous neoplasm" @@ -12088,8 +12088,8 @@ "nucleotide measurement"@en "intellectual disability, X-linked 19" "obsolete_omodysplasia" - "myc-associated zinc finger protein measurement" "Krabbe disease due to saposin A deficiency" + "myc-associated zinc finger protein measurement" "uterus fundus" "level of KH domain-containing protein 3-like in blood" "defensin beta 118" @@ -12135,9 +12135,9 @@ "encounter with health service for adjustment and management of implanted device"@en "hereditary motor and sensory neuropathy type 6" "Ichthyosis - intellectual disability - dwarfism - renal impairment" - "obsolete_motor developmental delay due to 14q32.2 paternally expressed gene defect" "congenital myasthenic syndrome 17" "Peyer's patch macrophage" + "obsolete_motor developmental delay due to 14q32.2 paternally expressed gene defect" "recessive amelogenesis imperfecta"@en "YCC7" "level of serpin B6 in blood" @@ -12153,8 +12153,8 @@ "Pyropoikilocytosis" "MM485 cell" "obsolete_tufted angioma" - "X-Linked Combined Immunodeficiency Diseases" "gonadal dysgenesis" + "X-Linked Combined Immunodeficiency Diseases" "thiopurine methyltransferase activity measurement" "phosphatidylcholine diacyl C42:2 measurement" "2-methoxyacetaminophen sulfate measurement" @@ -12178,8 +12178,8 @@ "X-25520 measurement" "TIG-3"@en "MMR-related febrile seizures" - "secondary polycythemia" "ATC Code N Nervous system" + "secondary polycythemia" "neural cell adhesion molecule 1" "vesicle-associated membrane protein 3 measurement" "meningitis caused by poliovirus" @@ -12189,9 +12189,9 @@ "Hydroureter" "gallbladder lymphoma" "hyperplasia" - "obsolete_acromelic dysplasia" "level of tRNA N(3)-methylcytidine methyltransferase METTL2B in blood serum" "pharyngeal pouches 2-6" + "obsolete_acromelic dysplasia" "level of BMP receptor type-1B in blood serum" "obsolete_cystinuria type A" "obsolete_triple-A syndrome" @@ -12204,8 +12204,8 @@ "obsolete_familial isolated clinodactyly of fingers" "calcium-regulated heat stable protein 1 measurement" "Parse Biosciences technology"@en - "Appendicular hypotonia" "ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome" + "Appendicular hypotonia" "myelin sheath" "MOLT-4" "NCI-H747" @@ -12233,8 +12233,8 @@ "obsolete_autosomal recessive primary microcephaly" "Fc receptor-like protein 5 measurement" "norrin" - "intellectual disability-brachydactyly-Pierre Robin syndrome" "obsolete_Bencze syndrome" + "intellectual disability-brachydactyly-Pierre Robin syndrome" "level of DnaJ homolog subfamily B member 6 in blood" "obsolete_Denys-Drash syndrome" "integrator complex subunit 3" @@ -12298,8 +12298,8 @@ "Subdural Effusion" "fibroblast growth factor 12 measurement" "complex cortical dysplasia with other brain malformations 7" - "vitamin deficiency" "mosaic trisomy 10" + "vitamin deficiency" "spindle cell synovial sarcoma" "ER to Golgi transport vesicle membrane" "obsolete_partial trisomy of the long arm of chromosome 5" @@ -12339,9 +12339,9 @@ "Bowing of the long bones" "blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome" "enterocele"@en - "level of endothelial lipase in blood serum" "protein-tyrosine phosphatase mitochondrial 1" "multinodular goiter" + "level of endothelial lipase in blood serum" "level of EP300-interacting inhibitor of differentiation 3 in blood serum" "laryngotracheoesophageal cleft" "bronchoconstriction" @@ -12373,11 +12373,11 @@ "Concomitant strabismus" "carotid body paraganglioma" "obsolete_cloacal exstrophy" - "cholesteryl ester 24:4 measurement" "vulvar carcinoma" "hexanoate" "Ras-related protein Rab-5B" "level of adhesion G protein-coupled receptor F5 in blood serum" + "cholesteryl ester 24:4 measurement" "NanoCAGE" "Human adenovirus 4" "bicuculline" @@ -12457,8 +12457,8 @@ "isolated focal cortical dysplasia" "obsolete_partial duplication of chromosome 10" "optic disc measurement" - "ischemia reperfusion injury" "CD94-negative, Ly49CI-negative natural killer cell, mouse" + "ischemia reperfusion injury" "stria vascularis of cochlear duct" "erythema palmare hereditarium" "polyadenylate-binding protein 4 measurement" @@ -12496,8 +12496,8 @@ "radius fracture" "lengsin" "obsolete_Vici syndrome" - "obsolete_biotinidase deficiency" "Prochlorococcus marinus str. MIT 9312" + "obsolete_biotinidase deficiency" "F-BAR and double SH3 domains protein 1" "prostasin" "major salivary gland cancer" @@ -12529,14 +12529,14 @@ "Microblepharon - ablephara" "long term hematopoietic stem cell" "ACHN" - "obsolete_multiple epiphyseal dysplasia type 4" "sphingomyeline C16:1 measurement" "mitochondrial complex III deficiency" - "obsolete_Seckel syndrome" + "obsolete_multiple epiphyseal dysplasia type 4" "occular toxicity"@en - "Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay" + "obsolete_Seckel syndrome" "obsolete_split hand, unilateral" "obsolete_maternally-inherited mitochondrial dystonia" + "Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay" "level of glutathione S-transferase kappa 1 in blood serum" "level of pro-thyrotropin-releasing hormone in blood serum" "salivary gland squamous cell carcinoma" @@ -12556,10 +12556,10 @@ "level of glucose-induced degradation protein 8 homolog in blood serum" "severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency" "hematopoietic SH2 domain-containing protein" - "1-margaroyl-GPE (17:0) measurement" "Abnormal chromosome morphology" - "1-palmitoylglycerophosphoethanolamine measurement" + "1-margaroyl-GPE (17:0) measurement" "obsolete_caudal tuberculum" + "1-palmitoylglycerophosphoethanolamine measurement" "partial deletion of the short arm of chromosome 7" "CD40 signaling pathway" "adult Krabbe disease" @@ -12567,8 +12567,8 @@ "level of drebrin in blood" "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" "neurotoxicity" - "obsolete rare disease with dentinogenesis imperfecta" "induced pluripotent stem cell" + "obsolete rare disease with dentinogenesis imperfecta" "pili bifurcati" "cataract 5 multiple types" "level of dermokine in blood serum" @@ -12607,12 +12607,12 @@ "apparent mineralocorticoid excess syndrome" "autosomal recessive limb-girdle muscular dystrophy type 2I" "ubiquitin carboxyl-terminal hydrolase 4" - "obsolete_partial duplication of the long arm of chromosome 14" "obsolete_brachydactyly type A4" + "obsolete_partial duplication of the long arm of chromosome 14" "N-methylpipecolate measurement" "Illumina native qseq format" - "level of protein FAM221A in blood serum" "level of ribonuclease H2 subunit A in blood" + "level of protein FAM221A in blood serum" "GM17797" "software variation design" "probable RNA-binding protein 46" @@ -12700,8 +12700,8 @@ "olivopontocerebellar atrophy-deafness syndrome" "DnaJ homolog subfamily C member 27" "obsolete_humero-ulnar synostosis, bilateral" - "kelch-like protein 12 measurement" "P-selectin glycoprotein ligand 1 measurement" + "kelch-like protein 12 measurement" "KCL-22"@en "X-12456 measurement" "level of synphilin-1 in blood serum" @@ -12717,12 +12717,12 @@ "level of Cas scaffolding protein family member 4 in blood serum" "obsolete_Distal monosomy 10q" "obsolete_X-linked intellectual disability, Brooks type" - "proteasome-associated autoinflammatory syndrome 3" "obsolete_bilateral parasagittal parieto-occipital polymicrogyria" + "proteasome-associated autoinflammatory syndrome 3" "obsolete_frontal encephalocele" + "Gastric Hamartomatous Polyp" "level of 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial in blood serum" "medial collateral ligament" - "Gastric Hamartomatous Polyp" "myelomeningocele" "juvenile idiopathic arthritis" "Escherichia coli O157:H7 str. EDL933" @@ -12798,19 +12798,19 @@ "methylsuccinate measurement" "obsolete_classic lissencephaly" "trafficking protein particle complex subunit 3" - "obsolete_congenital absence of both forearm and hand" - "Blepharophimosis-intellectual disability syndrome, Verloes type" "N-phosphotaurocyamine measurement" "adolescent/adult-onset epilepsy syndrome" "Primary amenorrhea" "Avulavirus infectious disease" - "X-linked intellectual disability - epilepsy" + "obsolete_congenital absence of both forearm and hand" "heparanase" - "Aneurysm, False" + "Blepharophimosis-intellectual disability syndrome, Verloes type" + "X-linked intellectual disability - epilepsy" "TBY-2" "epithelioid sarcoma" "obsolete_lymph" "Hyperkeratosis" + "Aneurysm, False" "level of protein LTO1 homolog in blood" "Recurrent infections-myelofibrosis-nephromegaly syndrome" "obsolete_orofaciodigital syndrome type 12" @@ -12980,8 +12980,8 @@ "clear cell" "Bm4 B cell" "obsolete_Autosomal dominant Charcot-Marie-Tooth disease type 2G" - "tyrosine-protein kinase ZAP-70 measurement" "NT2/D1" + "tyrosine-protein kinase ZAP-70 measurement" "level of pantothenate kinase 1 in blood serum" "mosaic trisomy 22" "Penicillium corylophilum" @@ -12991,8 +12991,8 @@ "hemoglobin measurement" "obsolete_Thomas syndrome" "Other metabolic disease" - "Other immunodeficiency syndrome with predominantly antibody defects" "G96" + "Other immunodeficiency syndrome with predominantly antibody defects" "vegetating cicatricial pemphigoid" "level of forkhead box protein O3 in blood" "Eosinophilia" @@ -13024,13 +13024,13 @@ "X-21467 measurement"@en "level of Bcl-2-modifying factor in blood serum" "obsolete_Infantile neuroaxonal dystrophy" - "blood N-acetylproline measurement" "Genetic syndrome with a Dandy-Walker malformation as major feature" + "blood N-acetylproline measurement" "Quant-seq" "mediastinum synovial sarcoma" "Male infertility with spermatogenesis disorder" - "pure hair and nail ectodermal dysplasia" "proteome" + "pure hair and nail ectodermal dysplasia" "bifunctional peptidase and arginyl-hydroxylase JMJD5" "ribulose-phosphate 3-epimerase" "DNA mismatch repair protein Msh2" @@ -13151,17 +13151,17 @@ "Fanconi anemia complementation group N" "obsolete_pancreatic ductal adenocarcinoma" "kidney collecting duct principal cell" - "obsolete_Preaxial polydactyly of toes, bilateral" "Streptococcus mutans UA159" "cyanosis, transient neonatal" "premalignant hematological system disease" "triacylglycerol 54:6" + "obsolete_Preaxial polydactyly of toes, bilateral" "adult neuronal ceroid lipofuscinosis" "level of gamma-crystallin A in blood serum" "Abnormal pyramidal sign" - "obsolete_congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome" "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F" "trait in response to abacavir" + "obsolete_congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome" "Heligmosomoides polygyrus" "obsolete_10x v2" "level of kinesin-like protein KIF3B in blood serum" @@ -13188,11 +13188,11 @@ "classic maple syrup urine disease" "craniofacial-deafness-hand syndrome" "CITE-seq (cell surface protein profiling)" + "obsolete_20p12.3 microdeletion syndrome" + "polycomb protein SCMH1 measurement" "PFHR 9" "obsolete_myelodysplastic syndrome (MDS)-like" "primary erythermalgia" - "obsolete_20p12.3 microdeletion syndrome" - "polycomb protein SCMH1 measurement" "level of sideroflexin-5 in blood serum" "Chin with horizontal crease" "response to mepolizumab" @@ -13213,9 +13213,9 @@ "level of hydroxymethylglutaryl-CoA lyase, mitochondrial in blood serum" "phosphatidylcholine O-44:3" "inherited rippling muscle disease" + "obsolete_atypical juvenile parkinsonism" "Primary hypergonadotropic hypogonadism - partial alopecia" "IgA pemphigus" - "obsolete_atypical juvenile parkinsonism" "colon diverticulum" "hereditary clear cell renal cell carcinoma" "Rho guanine nucleotide exchange factor 10" @@ -13242,22 +13242,22 @@ "able to hear with hearing aids" "stathmin-3" "X-13684 measurement" + "Rare strabismus and restriction syndrome" "Hereditary cerebral hemorrhage with amyloidosis, Flemish type" "7-methylguanosine phosphate-specific 5'-nucleotidase" "vesicle transport through interaction with t-SNAREs homolog 1B" "postherpetic neuralgia" "ME-180" - "Rare strabismus and restriction syndrome" "obsolete_Harrod syndrome" - "obsolete_thalamus" "Genetic lens and zonula anomaly" + "obsolete_thalamus" "Dental enamel hypoplasia" "autosomal recessive limb-girdle muscular dystrophy" "obsolete_coloboma of eye lens" "acromesomelic dysplasia 3" "AA amyloidosis" - "serine protease inhibitor Kazal-type 13 measurement" "PEO6" + "serine protease inhibitor Kazal-type 13 measurement" "UMI Method" "facioscapulohumeral muscular dystrophy 4, digenic" "spondylocostal dysostosis-hypospadias-intellectual disability syndrome" @@ -13279,8 +13279,8 @@ "prefoldin subunit 1" "obsolete_familial intrahepatic cholestasis" "obsolete Loss of ability to walk" - "mcSCRB-seq" "obsolete_H syndrome" + "mcSCRB-seq" "Congenital ichthyosis - intellectual disability - spastic quadriplegia" "kelch-like protein 14" "2TS22C" @@ -13366,15 +13366,15 @@ "level of protein mono-ADP-ribosyltransferase PARP16 in blood serum" "level of endoplasmic reticulum resident protein 27 in blood serum" "arcus senilis" + "cecum adenocarcinoma" "plant population" "dendritic cell sarcoma" - "cecum adenocarcinoma" "YTH domain-containing family protein 3" "Julidochromis transcriptus" - "obsolete_trisomy 8p" "Illumina native scarf format" "level of protein notum in blood serum" "Clostridium difficile" + "obsolete_trisomy 8p" "ferulic acid 4-sulfate measurement" "GM17802" "time series design" @@ -13518,9 +13518,9 @@ "odonto-onycho-dermal dysplasia" "macrodactyly of fingers, bilateral" "N-acetylaspartic acid measurement" + "thrombospondin-4 measurement" "level of E3 ubiquitin-protein ligase TRIM21 in blood serum" "N-acetylmuramoyl-L-alanine amidase" - "thrombospondin-4 measurement" "level of RNA-binding protein Raly in blood" "tuberculosis" "level of amyloid beta precursor like protein 1 in blood serum" @@ -13696,13 +13696,13 @@ "radioulnar synostosis-microcephaly-scoliosis syndrome" "Ectodermal dysplasia - blindness" "radiculopathy" - "level of chondroitin sulfate N-acetylgalactosaminyltransferase 2 in blood serum" "HLA class II histocompatibility antigen, DM alpha chain measurement" + "level of chondroitin sulfate N-acetylgalactosaminyltransferase 2 in blood serum" "CMK" "U-87 MG" - "Hypomyelination - congenital cataract" "level of pantothenate kinase 3 in blood serum" "adult brainstem glioma" + "Hypomyelination - congenital cataract" "32D clone3" "Cappable-Seq" "ampulla of vater mucinous adenocarcinoma" @@ -13774,9 +13774,9 @@ "tetradecadienylcarnitine measurement" "level of adhesion G protein-coupled receptor B3 in blood serum" "leg dermatosis" - "volumetric brain MRI" "giant axonal neuropathy" "level of gastric inhibitory polypeptide in blood serum" + "volumetric brain MRI" "DNA polymerase iota measurement" "intracranial hemangioma" "level of procollagen C-endopeptidase enhancer 2 in blood serum" @@ -13798,8 +13798,8 @@ "inflammatory poikiloderma with hair abnormalities and acral keratoses" "campesterol measurement"@en "4-Guanidinobutyric acid measurement" - "AIDS-Related Primary Central Nervous System Lymphoma" "uncharacterized protein KIAA2013" + "AIDS-Related Primary Central Nervous System Lymphoma" "blood 2,2'-Methylenebis(6-tert-butyl-p-cresol) measurement" "CC16 measurement" "level of cadherin-23 in blood serum" @@ -13890,8 +13890,8 @@ "level of sperm surface protein Sp17 in blood serum" "11-beta-hydroxysteroid dehydrogenase [NAD(P)+] activity" "probable inactive serine protease 37" - "Autosomal dominant Charcot-Marie-Tooth disease type 2I" "level of serrate RNA effector molecule in blood serum" + "Autosomal dominant Charcot-Marie-Tooth disease type 2I" "tyrosine-protein phosphatase non-receptor type 1 measurement" "mental or behavioural disorder" "melanotransferrin" @@ -13919,11 +13919,11 @@ "presumptive hindbrain" "biliary tract disease" "octadecadienylcarnitine measurement" + "DNA repair endonuclease XPF measurement" "xanthinuria type II" "Rhabditinae" "level of protein mago nashi in blood serum" "arthrogryposis, distal, type 2B4" - "DNA repair endonuclease XPF measurement" "Genetic neuromuscular junction disease" "chymotrypsinogen B" "dental phobia" @@ -13938,9 +13938,9 @@ "obsolete_Ito hypomelanosis" "fibroblast growth factor 17 measurement" "cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies" - "cleft lip" "arterial occlusion" "level of Rho guanine nucleotide exchange factor 12 in blood" + "cleft lip" "level of Polycomb complex protein BMI-1 in blood serum" "sorting nexin-27" "lutropin subunit beta" @@ -14006,8 +14006,8 @@ "cleft larynx, posterior" "Leydig cell hypoplasia due to partial LH resistance" "response to antineoplastic agent" - "pasteurellosis" "N-acetylgalactosamine-6-sulfatase" + "pasteurellosis" "familial adenomatous polyposis 2" "1-aminocyclopropane-1-carboxylic acid meaaurement"@en "cecum lymphoma" @@ -14053,15 +14053,15 @@ "Digenome-seq" "lysine-specific demethylase 4C" "vitreous humor" - "hemoglobinopathy" "obsolete_high bone mass osteogenesis imperfecta" + "hemoglobinopathy" "level of ubiquitin-conjugating enzyme E2 Q1 in blood serum" "autosomal recessive lymphoproliferative disease" "Bilateral tonic-clonic seizure" "intellectual developmental disorder with dysmorphic facies and ptosis" "umbilical cord ulceration-intestinal atresia syndrome" - "Radial dysplasia" "acute hemorrhagic leukoencephalitis" + "Radial dysplasia" "CIRS-seq" "2-methylcitrate(3-)" "obsolete_macrodactyly of toes" @@ -14078,8 +14078,8 @@ "GM17281" "benign neoplasm of maxillary sinus" "obsolete_brachydactyly type A2" - "obsolete_partial deletion of the short arm of chromosome 8" "Illumina native fastq format" + "obsolete_partial deletion of the short arm of chromosome 8" "sialolithiasis" "membrane protein FAM174B measurement" "GM17803" @@ -14124,15 +14124,15 @@ "cecum carcinoma" "Tall stature - scoliosis - macrodactyly of the great toes" "scavenger receptor cysteine-rich domain-containing group B protein" - "filamin-related bone disorder" "obsolete_tetrasomy 5p" + "filamin-related bone disorder" "obsolete_tubular aggregate myopathy" + "response to intravenous immunoglobulin therapy" "congenital disorder of deglycosylation 1" "interleukin-13" "APOE carrier status" "spinal cord lateral wall" "level of hydroxymethylglutaryl-CoA synthase, cytoplasmic in blood serum" - "response to intravenous immunoglobulin therapy" "level of peptidyl-prolyl cis-trans isomerase FKBP5 in blood" "carnitine palmitoyl transferase II deficiency, neonatal form" "embryonic epipharynx" @@ -14163,9 +14163,9 @@ "H4" "erysipelas" "pentose acid measurement" + "HCC193" "hearing loss, autosomal dominant 80" "lysosomal cobalamin transporter ABCD4" - "HCC193" "SW1353" "5'(3')-deoxyribonucleotidase, mitochondrial" "eukaryotic translation initiation factor 4B measurement" @@ -14218,9 +14218,9 @@ "granzyme b measurement" "decreased attention" "protein energy malnutrition" - "Rare genetic disease with myoclonus as a major feature" "obsolete microcephalic primordial dwarfism" "physical urticaria" + "Rare genetic disease with myoclonus as a major feature" "obsolete_focal acral hyperkeratosis" "autosomal dominant secondary polycythemia" "Selaginella" @@ -14250,9 +14250,9 @@ "level of doublesex- and mab-3-related transcription factor C2 in blood serum" "obsolete_47,XYY syndrome" "level of phytanoyl-CoA hydroxylase-interacting protein in blood serum" - "obsolete_true unicornuate uterus" "Böök syndrome" "docking protein 1" + "obsolete_true unicornuate uterus" "obsolete_Osteochondrosis" "subaortic stenosis-short stature syndrome" "mediator of RNA polymerase II transcription subunit 1 measurement" @@ -14289,8 +14289,8 @@ "cell cycle checkpoint protein RAD1 measurement" "leprosy" "level of protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha in blood" - "sclerocornea" "obsolete_oromandibular-limb anomalies syndrome" + "sclerocornea" "1-palmitoyl-2-palmitoleoyl-GPC (16:0/16:1) measurement" "N-arachidonoyl dopamine measurement" "level of zinc finger protein RFP in blood serum" @@ -14397,6 +14397,7 @@ "Gastric Metaplasia" "obsolete Chudley-Lowry-Hoar syndrome" "Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease" + "trait in response to gabapentin" "obsolete mitochondrial proton-transporting ATP synthase complex" "escitalopram" "level of zinc finger and BTB domain-containing protein 16 in blood serum" @@ -14536,9 +14537,9 @@ "level of neurturin in blood" "level of mimecan in blood" "cadherin-5 measurement" + "level of sodium/nucleoside cotransporter 1 in blood" "oligophrenin-1" "transcription initiation factor IIB" - "level of sodium/nucleoside cotransporter 1 in blood" "nasopharyngeal carcinoma" "congenital secretory diarrhea" "ATC Code S Sensory organs" @@ -14613,8 +14614,8 @@ "leucine-rich repeat flightless-interacting protein 1" "IGF-like family receptor 1 measurement" "level of sperm acrosome membrane-associated protein 1 in blood serum" - "interleukin-10 receptor subunit alpha measurement" "choroid plexus papilloma" + "interleukin-10 receptor subunit alpha measurement" "hypercholesterolemia, familial, 1" "inherited Creutzfeldt-Jakob disease" "level of sulfiredoxin-1 in blood serum" @@ -14725,8 +14726,8 @@ "obsolete_perirhinal cortex" "level of cleavage and polyadenylation specificity factor subunit 5 in blood serum" "RIP-seq" - "brain cortex volume measurement"@en "HapMap haplotype mapping" + "brain cortex volume measurement"@en "NG Capture-C" "pharyngeal endoderm" "growth/differentiation factor 11 measurement" @@ -14745,8 +14746,8 @@ "RT-112" "response to carboplatin" "Theiler stage 11" - "1-methylnicotinamide measurement"@en "peanut allergic reaction" + "1-methylnicotinamide measurement"@en "Neurodevelopmental disorder"@en "desmin" "colon lymphoma" @@ -14766,21 +14767,21 @@ "L-cysteine" "ulerythema ophryogenesis" "Abnormal nonverbal communicative behavior" - "Autosomal dominant primary hypomagnesemia with hypocalciuria" "intellectual developmental disorder with poor growth and with or without seizures or ataxia" "late infantile CACH syndrome" + "Autosomal dominant primary hypomagnesemia with hypocalciuria" "Chondrocalcinosis" "docosahexaenoic acid to total fatty acids percentage " "helper T cell" "epidermal growth factor receptor kinase substrate 8-like protein 1" "level of proteasome subunit beta type-2 in blood serum" "obsolete_otodental syndrome" - "brain germinoma" "obsolete_SERKAL syndrome" + "brain germinoma" "bone marrow cancer" "S wave amplitude" - "immature CD8_alpha-positive CD11b-negative dendritic cell" "octanoylcarnitine measurement" + "immature CD8_alpha-positive CD11b-negative dendritic cell" "Antidepressant use measurement" "arrhythmogenic right ventricular dysplasia 12" "bilirubin measurement" @@ -14792,9 +14793,9 @@ "famotidine" "hatipoglu immunodeficiency syndrome" "dihydropyrimidinuria" + "obsolete_occipital pachygyria and polymicrogyria" "partial duplication of the long arm of chromosome 10" "autosomal recessive ataxia due to PEX10 deficiency" - "obsolete_occipital pachygyria and polymicrogyria" "hypertensive encephalopathy" "ribose-phosphate pyrophosphokinase 2" "integrin alpha-V: beta-5 complex measurement" @@ -14916,9 +14917,9 @@ "vitelliform macular dystrophy 3" "Ageusia" "mandibuloacral dysplasia progeroid syndrome" - "obsolete_Frontootopalatodigital syndrome" - "Micromelic dwarfism, Fryns type" "Chlamydotis undulata" + "Micromelic dwarfism, Fryns type" + "obsolete_Frontootopalatodigital syndrome" "level of copper chaperone for superoxide dismutase in blood" "obsolete_oocyte" "mitochondrial DNA depletion syndrome 18" @@ -14926,22 +14927,22 @@ "inosine measurement"@en "GATA1-Related X-Linked Cytopenia" "Reduced consciousness" + "Testicular Large Cell Calcifying Sertoli Cell Tumor" "ephrin type-A receptor 1 measurement" "killer cell immunoglobulin-like receptor 2DS2" "level of cyclin-dependent kinase 4 inhibitor C in blood serum" "Opitz G/BBB syndrome" - "Testicular Large Cell Calcifying Sertoli Cell Tumor" "transcription factor TFIIIB component B''" "otospondylomegaepiphyseal dysplasia, autosomal dominant" "copy number assessment" "hyperlipoproteinemia" + "obsolete_tetrasomy X" "C4BP measurement" "testosterone measurement" "GM02783" "leukocyte adhesion deficiency 1" "EF-hand calcium-binding domain-containing protein 14 measurement" "day" - "obsolete_tetrasomy X" "RNA extraction protocol" "X-linked intellectual disability-spastic quadriparesis syndrome" "obsolete_kidney stone" @@ -15013,10 +15014,10 @@ "G-rich sequence factor 1" "Benign Ovarian Surface Epithelial-Stromal Tumor" "GlcNAc sulfate conjugate of C21H34O2 steroid measurement" - "free cholesterol to total lipids in very large HDL percentage " "protein argonaute-1 measurement" - "Pelvic kidney" + "free cholesterol to total lipids in very large HDL percentage " "epilepsy, idiopathic generalized, susceptibility to, 8" + "Pelvic kidney" "McLeod neuroacanthocytosis syndrome" "CD16-negative, CD56-bright natural killer cell, human" "acrocephalopolydactyly" @@ -15083,8 +15084,8 @@ "level of lysophosphatidic acid phosphatase type 6 in blood serum" "Malpighian tubule" "mushroom workers' lung" - "trisomy 8q" "WW domain-containing oxidoreductase" + "trisomy 8q" "skin and soft tissue Staphylococcus aureus infection" "aniridia-renal agenesis-psychomotor retardation syndrome" "level of myoneurin in blood serum" @@ -15092,15 +15093,15 @@ "obsolete_Early infantile epileptic encephalopathy" "chromosome 5 disorder" "level of oxidized purine nucleoside triphosphate hydrolase in blood serum" + "X-linked intellectual disability - dysmorphism - cerebral atrophy" "nectin-4 measurement" + "obsolete_Pelizaeus-Merzbacher disease, transitional form" "trochlear nerve neoplasm" - "X-linked intellectual disability - dysmorphism - cerebral atrophy" "sprouty-related, EVH1 domain-containing protein 1" - "obsolete_Pelizaeus-Merzbacher disease, transitional form" "obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form" "renal tubule disease" - "level of leucine-rich repeat and fibronectin type-III domain-containing protein 4 in blood serum" "nemaline myopathy 5C, autosomal dominant" + "level of leucine-rich repeat and fibronectin type-III domain-containing protein 4 in blood serum" "lung epithelium" "upper lobe of right lung" "eyeball of camera-type eye" @@ -15110,14 +15111,14 @@ "embryonic precursor of adult hindgut" "long bone" "ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features" - "neogenin" "uncultured Acidobacteria bacterium" + "neogenin" "WD repeat-containing protein 26" "Cryptopygus antarcticus" "Anopheles arabiensis" "marasmus" - "endometrial stromal tumor" "BRICHOS domain-containing protein 5 measurement" + "endometrial stromal tumor" "MEL-GATA-1-ER" "central brain anlage" "sphingomyelin 16:1" @@ -15144,6 +15145,7 @@ "obsolete_distal 7q11.23 microduplication syndrome" "Streptococcus gordonii" "glycogen storage disease due to muscle and heart glycogen synthase deficiency" + "age of onset of isolated dystonia" "HMG CoA reductase inhibitor use measurement" "embryonic stage 8" "level of transcriptional regulator Kaiso in blood serum" @@ -15167,8 +15169,8 @@ "obsolete prenatal benign hypophosphatasia" "benign phyllodes tumor" "Delirium" - "X-14977--vanillin measurement" "HS-68 cell" + "X-14977--vanillin measurement" "immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte" "cadmium atom" "chewing tobacco behavior" @@ -15244,8 +15246,8 @@ "cystic kidney disease" "response to ustekinumab"@en "targeted mutation" - "2-oxoglutarate(2-)" "subependymal giant cell astrocytoma" + "2-oxoglutarate(2-)" "high content screen" "M6A-RIP" "stem cell derived cell line" @@ -15264,9 +15266,9 @@ "Amapari virus" "level of gap junction alpha-8 protein in blood serum" "mixed neoplasm" + "obsolete_Nervous system anomaly with eye involvement" "Aniridia - ptosis - intellectual disability - familial obesity" "level of neuroendocrine convertase 1 in blood serum" - "obsolete_Nervous system anomaly with eye involvement" "NCI-H1373" "dorsal prothoracic pharyngeal muscle" "cholesterol to total lipids in chylomicrons and extremely large VLDL percentage " @@ -15357,11 +15359,11 @@ "obsolete Bronchospasm" "Parana hard-skin syndrome" "Pfeiffer syndrome type 3" + "obsolete_autosomal dominant Charcot-Marie-Tooth disease type 2K" "aortic valve calcification" "level of sex-determining region Y protein in blood serum" - "obsolete_autosomal dominant Charcot-Marie-Tooth disease type 2K" - "tyrosine-protein phosphatase non-receptor type 2 measurement" "Severe achondroplasia - developmental delay - acanthosis nigricans" + "tyrosine-protein phosphatase non-receptor type 2 measurement" "CD14 molecule" "induced myeloid leukemia cell differentiation protein Mcl-1 measurement" "ChIP" @@ -15373,8 +15375,8 @@ "GM17148" "level of frataxin, mitochondrial in blood" "Talipes" - "obsolete_Partington syndrome" "macular dystrophy with or without cone dysfunction" + "obsolete_Partington syndrome" "obsolete_familial thrombocytosis" "Kidney Cyst" "RDH5-related retinopathy" @@ -15383,9 +15385,9 @@ "level of lymphocyte antigen 75 isoform 4 and LY75-CD302 fusion isoforms V34-2/V33-2 (human) in blood serum" "CS57560" "obsolete_campomelic dysplasia" - "Hypertyrosinemia" - "sialic acid-binding Ig-like lectin 12 measurement" "obsolete_COFS syndrome" + "sialic acid-binding Ig-like lectin 12 measurement" + "Hypertyrosinemia" "level of apolipoprotein C-III in blood serum" "GCT" "general transcription factor IIF subunit 2" @@ -15455,9 +15457,9 @@ "obsolete_free sialic acid storage disease" "childhood endodermal sinus tumor" "oleoyl-oleoyl-glycerol (18:1/18:1) [1] measurement" - "ChIP-Chip" "level of reversion-inducing cysteine-rich protein with Kazal motifs in blood" "neurodevelopmental disorder with midbrain and hindbrain malformations" + "ChIP-Chip" "Nizon-Isidor syndrome" "congenital disorder of glycosylation, type IIz" "cleft palate" @@ -15473,9 +15475,9 @@ "obsolete_central congenital hypothyroidism" "stomatin-like protein 1" "GPN-loop GTPase 1" - "Anophthalmia/microphthalmia - esophageal atresia" "pro-glucagon" "high throughput sequence alignment protocol" + "Anophthalmia/microphthalmia - esophageal atresia" "dumping syndrome" "Reduced tendon reflexes" "Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma" @@ -15512,17 +15514,17 @@ "pregnancy-specific beta-1-glycoprotein 4 measurement" "Snijders Blok-Campeau syndrome"@en "azinphos methyl measurement"@en - "A2058" "UL16-binding protein 1" + "A2058" "paraneoplastic antigen Ma2" "Gorilla gorilla gorilla" - "level of gamma-aminobutyric acid receptor-associated protein in blood" "obsolete_Congenital isolated ACTH deficiency" + "level of gamma-aminobutyric acid receptor-associated protein in blood" "Charcot-Marie-Tooth disease recessive intermediate D" "neuroendocrine cell hyperplasia of infancy" "somatostatin receptor type 1" - "leukocyte immunoglobulin-like receptor subfamily A member 2" "mbd5 associated neurodevelopmental disorder" + "leukocyte immunoglobulin-like receptor subfamily A member 2" "mitochondrial DNA depletion syndrome 1" "neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities" "small ribosomal subunit protein eS1" @@ -15539,8 +15541,8 @@ "epidermal growth factor receptor kinase substrate 8-like protein 2" "level of proteasome subunit beta type-4 in blood serum" "obsolete_otofaciocervical syndrome" - "obsolete_sex chromosome disorder of sex development" "congenital or acquired" + "obsolete_sex chromosome disorder of sex development" "QRS-T angle"@en "RNA polymerase II elongation factor ELL3" "Haemophilus influenzae" @@ -15559,8 +15561,8 @@ "B-cell antigen receptor complex-associated protein alpha chain measurement" "MBD-seq" "obsolete partial duplication of the long arm of chromosome 11" - "phosphoribosyl pyrophosphate synthase-associated protein 1" "hypertensive retinopathy" + "phosphoribosyl pyrophosphate synthase-associated protein 1" "obsolete_rat strain" "trimethylbenzene" "level of seizure 6-like protein in blood" @@ -15593,9 +15595,9 @@ "level of Rho GTPase-activating protein 45 in blood serum" "benign eccrine neoplasm" "esophageal adenoid cystic carcinoma" - "obsolete_distal hereditary motor neuropathy type 2" "vitamin C measurement" "embryonic foregut sensory structure" + "obsolete_distal hereditary motor neuropathy type 2" "breast benign neoplasm" "great cerebral vein" "4-acetamidobutanoate-to-N1-methyladenosine ratio" @@ -15621,6 +15623,7 @@ "level of C-X-C motif chemokine 3 in blood serum" "HCC1599" "idiopathic scoliosis" + "Craniostenosis associated with a strabismus" "distal arthrogryposis type 2B1" "level of N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming in blood serum" "HCC4006" @@ -15628,7 +15631,6 @@ "level of PWWP domain-containing DNA repair factor 3A in blood serum" "MFM-223" "sick sinus syndrome 1" - "Craniostenosis associated with a strabismus" "obsolete_anorexia nervosa" "inherited dystonia" "obsolete_frontal lobe" @@ -15690,8 +15692,8 @@ "level of peptidase inhibitor 15 in blood serum" "level of 26S proteasome non-ATPase regulatory subunit 5 in blood serum" "non-homologous end-joining factor 1" - "anus rhabdomyosarcoma" "Weismann-Netter syndrome" + "anus rhabdomyosarcoma" "LP.03 three leaves visible stage" "synpolydactyly" "rhizomelic chondrodysplasia punctata type 2" @@ -15760,8 +15762,8 @@ "systemic mycosis" "type 1 diabetes nephropathy" "mirror movements 2" - "autosomal dominant pure spastic paraplegia" "switch-associated protein 70 measurement" + "autosomal dominant pure spastic paraplegia" "Alexandrium tamarense" "adult central nervous system germinoma" "KYSE30" @@ -15772,8 +15774,8 @@ "squamous cell carcinoma antigen measurement"@en "thyroid hormone metabolism, abnormal 1" "PILR alpha-associated neural protein measurement" - "muscular dystrophy-dystroglycanopathy type B6" "N-(2,3-dihydro-1,4-benzodioxin-2-ylmethyl)-2-(2,6-dimethoxyphenoxy)ethanamine" + "muscular dystrophy-dystroglycanopathy type B6" "susceptibility to malaria" "thoracic aortic fatty streak" "hyperinsulinism due to HNF4A deficiency" @@ -15792,8 +15794,8 @@ "chromosome 6 disorder" "reading disorder" "netrin receptor UNC5A measurement" - "cycloleu-pro measurement" "level of ubiquitin carboxyl-terminal hydrolase 5 in blood serum" + "cycloleu-pro measurement" "congenital fibrosis of extraocular muscles" "breast ductal carcinoma in situ" "tubulin-specific chaperone A" @@ -15856,12 +15858,12 @@ "malignant phyllodes tumor" "Patski" "Long toe" - "obsolete_progressive deafness with stapes fixation" "sphingomyelin 18:0" "craniomicromelic syndrome" "toxic epidermal necrolysis" "episodic ataxia type 8" "FAIRE-seq" + "obsolete_progressive deafness with stapes fixation" "sarcoplasmic/endoplasmic reticulum calcium ATPase 3 measurement" "calcipressin-1" "obsolete neuro-ophthalmological disease" @@ -15933,29 +15935,29 @@ "Magnetospirillum magneticum AMB-1" "crypt" "obsolete_Beckwith-Wiedemann syndrome due to 11p15 microduplication" + "obsolete_cobblestone lissencephaly without muscular or ocular involvement" "phosphatidylcholine diacyl C28:1 measurement" "ceftriaxone" "ACCES syndrome" - "obsolete_cobblestone lissencephaly without muscular or ocular involvement" "bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase" - "potassium bicarbonate measurement" "WAP four-disulfide core domain protein 10A" + "potassium bicarbonate measurement" "protein mono-ADP-ribosyltransferase PARP11" - "H2.35" "keratin, type I cuticular Ha4" "intellectual disability, autosomal recessive 58" - "conjunctivitis" + "H2.35" "T-cell surface glycoprotein CD1c" + "conjunctivitis" "Arbovirus Infections" "GM14533" "congenital nonspherocytic hemolytic anemia" "ectonucleotide pyrophosphatase/phosphodiesterase family member 7 measurement" "level of melanoma-associated antigen 4 in blood serum" "N-methylnicotinate" - "obsolete_punctate palmoplantar keratoderma" "perichondritis of auricle" "methionine" "Botrytis cinerea" + "obsolete_punctate palmoplantar keratoderma" "LysM and putative peptidoglycan-binding domain-containing protein 3" "small nuclear ribonucleoprotein G" "obsolete_neonatal hemochromatosis" @@ -15995,9 +15997,9 @@ "X-23787 measurement" "obsolete_SHOX-related short stature" "obsolete_adrenal cortex" + "Progéria - short stature - pigmented nevi" "myc target protein 1 measurement" "DCN1-like protein 2" - "Progéria - short stature - pigmented nevi" "obsolete_carnitine palmitoyl transferase II deficiency, neonatal form" "disorder of metabolite absorption and transport" "mastectomy"@en @@ -16041,8 +16043,8 @@ "obsolete_familial Mediterranean fever" "contact dermatitis due to nickel" "OK-Seq" - "T3 tumor stage" "neuromodulin" + "T3 tumor stage" "neutrophil defensin 3 (human)" "4-acetylcatechol sulfate (1) measurement" "X-linked hyper-IgM syndrome" @@ -16052,14 +16054,15 @@ "ornithine transcarbamylase, mitochondrial" "paroxysmal extreme pain disorder" "epidural abscess" + "amount of apolipoprotein(a) in blood" + "Flavobacteriaceae Infections" "7-methylpyrido34-cpsoralen measurement" "hyper-IgM syndrome type 2" "obesity due to SIM1 deficiency" - "Flavobacteriaceae Infections" "complement C3B measurement" "Double inlet left ventricle" - "1-arachidonoyl-GPE (20:4n6) measurement" "type II diabetes mellitus with acanthosis nigricans" + "1-arachidonoyl-GPE (20:4n6) measurement" "level of secretory carrier-associated membrane protein 5 in blood serum" "gastric outlet obstruction" "histone acetyltransferase kat6a measurement" @@ -16137,8 +16140,8 @@ "short rib-polydactyly syndrome, Majewski type" "neurodegeneration with brain iron accumulation 8" "Autosomal dominant Charcot-Marie-Tooth disease type 2L" - "tyrosine-protein phosphatase non-receptor type 6 measurement" "obsolete_platyspondylic dysplasia, Torrance type" + "tyrosine-protein phosphatase non-receptor type 6 measurement" "2'-5'-oligoadenylate synthase 1 measurement" "spondyloepimetaphyseal dysplasia, matrilin-3 type" "level of tetraspanin-7 in blood" @@ -16147,9 +16150,9 @@ "obsolete_Prader-Willi-like syndrome" "autosomal recessive severe congenital neutropenia due to CSF3R deficiency" "interleukin-2 receptor subunit beta" - "abnormal result of diagnostic imaging" "level of frizzled-8 in blood" "Complex Cyst of Kidney" + "abnormal result of diagnostic imaging" "Spartina x townsendii" "infraorbital lateral line neuromast" "carboxamide measurement"@en @@ -16162,11 +16165,11 @@ "level of multivesicular body subunit 12B in blood serum" "triglycerides to total lipids in chylomicrons and extremely large VLDL percentage " "phagocytic cell dysfunction" + "protein BTG1" "Cystoid macular dystrophy" + "microarray wash station" "Nabothian Cyst" - "protein BTG1" "pimelylcarnitine measurement" - "microarray wash station" "obsolete deafness-onychodystrophy syndrome" "nuclear receptor-interacting protein 3" "cholesteryl ester 22:0 measurement" @@ -16183,9 +16186,9 @@ "4-Pyridoxic acid measurement" "obsolete_thyroid hypoplasia" "fibronectin measurement" + "obsolete_Tay-Sachs disease, b variant, adult form" "shRNA-seq" "obsolete isolated Klippel-Feil syndrome" - "obsolete_Tay-Sachs disease, b variant, adult form" "ovarian serous tumor" "Charcot-Marie-Tooth disease type 4F" "laryngeal sarcoma" @@ -16204,8 +16207,8 @@ "protein sidekick-2" "intestinal polyp" "cation-dependent mannose-6-phosphate receptor measurement" - "insect visual primordium" "obsolete_benign familial nocturnal alternating hemiplegia of childhood" + "insect visual primordium" "cubilin measurement" "Rhodopseudomonas palustris" "Abnormality of the kidney" @@ -16302,9 +16305,9 @@ "response to non-steroidal anti-inflammatory" "thoracomelic dysplasia" "level of beta-2-glycoprotein 1 in blood serum" - "sulfoacetate measurement" "alpha-N-acetylgalactosaminidase deficiency type 3" "sialic acid-binding Ig-like lectin 5" + "sulfoacetate measurement" "obsolete_bile duct inflammation" "keratin, type II cytoskeletal 6A" "obsolete_mosaic trisomy 22" @@ -16506,13 +16509,13 @@ "obsolete_congenital myasthenic syndromes with glycosylation defect" "translin measurement" "fatal familial insomnia" - "Pavo cristatus" "Qualitative or quantitative defects of collagen 6" - "level of ubiquitin carboxyl-terminal hydrolase 8 in blood serum" + "Pavo cristatus" "glycylvaline measurement" + "level of ubiquitin carboxyl-terminal hydrolase 8 in blood serum" "interleukin-23 measurement" - "laurin-Sandrow syndrome" "GM17793" + "laurin-Sandrow syndrome" "tubulin-folding cofactor B" "N-acetyl-L-aspartic acid" "Zika virus infectious disease" @@ -16771,10 +16774,10 @@ "decidua basalis" "T-cell immunoglobulin and mucin domain-containing protein 4" "Periventricular heterotopia" - "obsolete_frontotemporal dementia with motor neuron disease" "sphingomyelin 18:1" - "Familial porphyria cutanea tarda" + "obsolete_frontotemporal dementia with motor neuron disease" "LC2/AD" + "Familial porphyria cutanea tarda" "inbred" "secreted frizzled-related protein 2 measurement" "Generalized junctional epidermolysis bullosa, non-Herlitz type" @@ -16886,11 +16889,11 @@ "CMRF35-like molecule 8" "intellectual developmental disorder with macrocephaly, seizures, and speech delay" "adenylate kinase 4, mitochondrial" - "alpha-CEHC glucuronide measurement" "level of aminopeptidase N in blood serum" + "alpha-CEHC glucuronide measurement" "cancer cell line sample" - "syntactic complexity measurement" "muscular pseudohypertrophy-hypothyroidism syndrome" + "syntactic complexity measurement" "level of tetraspanin-8 in blood" "serous neoplasm" "basophilic promyelocyte" @@ -16981,8 +16984,8 @@ "obsolete_Acrokeratosis verruciformis of Hopf" "subacute thyroiditis" "C170" - "UL16-binding protein 3" "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2" + "UL16-binding protein 3" "autoinflammation, immune dysregulation, and eosinophilia" "Pan paniscus" "obsolete_behavioral variant of frontotemporal dementia" @@ -17131,8 +17134,8 @@ "obsolete_lissencephaly due to TUBA1A mutation" "inherited disease susceptibility" "International Unit" - "Antihistamine use measurement" "influenza A severity measurement" + "Antihistamine use measurement" "breast-ovarian cancer, familial, susceptibility to, 1" "E3 ubiquitin-protein ligase RNF5" "functioning pituitary gland neoplasm" @@ -17172,15 +17175,15 @@ "double outlet right ventricle" "obsolete Glanzmann's thrombasthenia" "obsolete_constitutional megaloblastic anemia with severe neurologic disease" - "Distichiasis" "ClickSeq" + "Distichiasis" "epithelioid hemangioendothelioma" "Locusta migratoria" "level of ectonucleoside triphosphate diphosphohydrolase 6 in blood serum" + "liver mesenchymal hamartoma" "camptothecin" "mesenchymal cell neoplasm" "netrin receptor DCC" - "liver mesenchymal hamartoma" "gram per liter" "recalcitrant atopic dermatitis" "Pelizaeus-Merzbacher disease, connatal form" @@ -17196,8 +17199,8 @@ "dilated cardiomyopathy 1M" "level of neurexin-1-alpha in blood serum" "histone deacetylase complex subunit SAP30 measurement" - "obsolete_purine nucleoside phosphorylase deficiency" "organism part" + "obsolete_purine nucleoside phosphorylase deficiency" "paranasal sinus squamous cell carcinoma" "rap1 GTPase-GDP dissociation stimulator 1 measurement" "basic leucine zipper transcriptional factor ATF-like 3 measurement" @@ -17207,9 +17210,9 @@ "Candidatus Phytoplasma asteris" "tRNA-splicing endonuclease subunit Sen15" "hypothalamic neoplasm" - "Cerebellar cyst" "megakaryocyte and platelet inhibitory receptor G6b" "level of STAM-binding protein in blood" + "Cerebellar cyst" "obsolete trichorhinophalangeal syndrome, type III" "phosphatidylcholine O-40:5" "D-Trehalose to 3-Indolepropionic acid ratio" @@ -17217,8 +17220,8 @@ "autosomal recessive brachyolmia" "prominent glabella-microcephaly-hypogenitalism syndrome" "sphingomyelin d18:1/16:1" - "pyroglutamylvaline measurement" "DNA assay" + "pyroglutamylvaline measurement" "mast-cell leukemia" "benign urethral neoplasm" "galanin-like peptide measurement" @@ -17228,9 +17231,9 @@ "Human papillomavirus" "level of hepatoma-derived growth factor-like protein 1 in blood serum" "obsolete_alopecia" + "obsolete_developmental delay with autism spectrum disorder and gait instability" "Congenital atransferrinemia" "tRNA (guanine-N(7)-)-methyltransferase" - "obsolete_developmental delay with autism spectrum disorder and gait instability" "NAD-dependent protein deacylase sirtuin-5, mitochondrial measurement" "GRIL-seq" "fibrous dysplasia" @@ -17309,8 +17312,8 @@ "Flat occiput" "catecholamine biosynthetic process" "DR26" - "Amish nemaline myopathy" "Pectobacterium carotovorum infection" + "Amish nemaline myopathy" "nebulin-related early-onset distal myopathy" "AG10941" "eosinophilic gastroenteritis" @@ -17357,12 +17360,12 @@ "ADAMTS-like protein 4" "obsolete_genetic nail anomaly" "obsolete_pituitary stalk interruption syndrome" - "obsolete_pure or complex autosomal recessive spastic paraplegia" "level of coiled-coil domain-containing protein 69 in blood serum" - "obsolete_Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia" + "obsolete_pure or complex autosomal recessive spastic paraplegia" "in situ sequencing" "small integral membrane protein 9" "Anterior creases of earlobe" + "obsolete_Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia" "3-hydroxybutyrate change measurement" "Non-steroidal anti-inflammatory and antirheumatic product use measurement" "Streptococcus sanguinis" @@ -17406,8 +17409,8 @@ "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11" "heart leiomyosarcoma" "Hypotonia - failure to thrive - microcephaly" - "amyotrophic lateral sclerosis 26 with or without frontotemporal dementia" "Morvan syndrome" + "amyotrophic lateral sclerosis 26 with or without frontotemporal dementia" "infantile epileptic encephalopathy" "combined immunodeficiency due to LRBA deficiency" "obsolete_lysinuric protein intolerance" @@ -17421,10 +17424,10 @@ "acute pericementitis" "level of ankyrin repeat and SAM domain-containing protein 3 in blood serum" "carbohydrate measurement" - "synaptotagmin-like protein 4 measurement" "cotyledon adaxial epidermis" "esophagus sarcoma" "gastroesophageal disease" + "synaptotagmin-like protein 4 measurement" "lysophosphatidylcholine 22:5 measurement" "obsolete_mesothelial cell of small intestine" "allergic otitis media" @@ -17537,8 +17540,8 @@ "bronchoalveolar adenocarcinoma" "A/G-specific adenine DNA glycosylase measurement" "transcriptional adapter 1-like protein" - "short stature and microcephaly with genital anomalies" "obsolete non-syndromic esophageal malformation" + "short stature and microcephaly with genital anomalies" "familial scaphocephaly syndrome, McGillivray type" "cardiomyopathy, dilated, 2G" "level of zinc finger protein 843 in blood serum" @@ -17563,9 +17566,9 @@ "degree fahrenheit" "left atrial function" "plant fluid" + "cDNA read" "C-C motif chemokine 25 measurement" "embryonic dorsal epidermis" - "cDNA read" "lumbosacral spina bifida aperta" "Abnormal vertebral morphology" "obsolete_amelogenesis imperfecta" @@ -17674,10 +17677,10 @@ "lung agenesis-heart defect-thumb anomalies syndrome" "Genetic malformation syndrome with odontal and/or periodontal component" "acetyl-CoA carboxylase 2 measurement" - "mytilin B measurement" "T3b tumor stage" - "Pelizeaus-Merzbacher spectrum disorder" + "mytilin B measurement" "serum ceruloplasmin amount" + "Pelizeaus-Merzbacher spectrum disorder" "heterogeneous nuclear ribonucleoprotein M" "subclavian steal syndrome" "GM14481" @@ -17755,8 +17758,8 @@ "laryngo-onycho-cutaneous syndrome" "intraflagellar transport protein 20" "obsolete_von Voss-Cherstvoy syndrome" - "dickkopf-related protein 2" "scMT-Seq" + "dickkopf-related protein 2" "junctional adhesion molecule-like measurement" "Wide nose" "GM17225" @@ -17767,9 +17770,9 @@ "obsolete_acyl-CoA dehydrogenase 9 deficiency" "CD24-negative CD38-negative IgG-negative class switched memory B cell" "Rare disorder with hypergonadotropic hypogonadism" + "Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism" "HG03097" "Bisulfite-seq" - "Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism" "myxoid chondrosarcoma" "adenine nucleotide translocase lysine N-methyltransferase" "Autosomal dominant Charcot-Marie-Tooth disease type 2A2" @@ -17800,9 +17803,9 @@ "intracranial germ cell tumor"@en "xanthomatosis" "hilar portion of hepatic duct" - "X-11845 measurement" "chromosome 19 disorder" "obsolete_pharyngeal pouch 5" + "X-11845 measurement" "congenital mitral malformation" "central nervous system calcification-deafness-tubular acidosis-anemia syndrome" "cholesteryl ester 22:4 measurement" @@ -17811,8 +17814,8 @@ "synaptojanin-2-binding protein" "irinotecan" "unilateral hemispheric polymicrogyria" - "level of branched-chain-amino-acid aminotransferase, cytosolic in blood" "Familial isolated hypoparathyroidism" + "level of branched-chain-amino-acid aminotransferase, cytosolic in blood" "Klinefelter's syndrome" "thrombocytopenia with congenital dyserythropoietic anemia" "cancer biomarker measurement" @@ -17861,11 +17864,11 @@ "obsolete_head mesoderm anlage" "Theiler stage 24" "genetic non-acquired premature ovarian failure"@en - "hepatitis B virus induced hepatocellular carcinoma" "peritonsillar abscess" "septum of telencephalon" - "AB SOLiD System 3.0" + "hepatitis B virus induced hepatocellular carcinoma" "Schinzel-Giedion syndrome" + "AB SOLiD System 3.0" "spondyloepimetaphyseal dysplasia, Handigodu type" "Luscan-Lumish syndrome" "Irregular dentition" @@ -17881,18 +17884,18 @@ "cell suspension culture" "central nervous system nongerminomatous germ cell tumor" "collagen alpha-2(XI) chain measurement" - "dihomo-linolenate 20:3n3 or n6 measurement" "temporal lobe cancer" - "Antiglaucoma preparations and miotics use measurement" + "dihomo-linolenate 20:3n3 or n6 measurement" "renal pelvis inverted papilloma" "Aplasia/Hypoplasia of the cerebellum" "valine--tRNA ligase" - "lung disease severity measurement" + "Antiglaucoma preparations and miotics use measurement" "microcephaly, short stature, and limb abnormalities" + "lung disease severity measurement" "obsolete_Li-Fraumeni syndrome" "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" - "nucleosome assembly protein 1-like 1" "infectious otitis media" + "nucleosome assembly protein 1-like 1" "bone element" "Drosophila ananassae" "Kit and Sca1-positive hematopoietic stem cell" @@ -17946,9 +17949,9 @@ "obsolete inherited digestive tract tumor" "level of transmembrane emp24 domain-containing protein 10 in blood serum" "obsolete_glucose transport disorder" - "serine/threonine-protein kinase ULK3" "Dolichocephaly" "disorder of methylamine metabolism" + "serine/threonine-protein kinase ULK3" "basic salivary proline-rich protein 4 measurement" "Teleopsis whitei" "E3 ubiquitin-protein ligase RBBP6 measurement" @@ -17975,17 +17978,17 @@ "achondrogenesis type IB" "invasive breast ductal and lobular carcinoma" "obsolete_Xp22.13p22.2 duplication syndrome" - "immunosuppressive agent" "epidermolysis bullosa simplex with anodontia/hypodontia" + "immunosuppressive agent" "nuclear receptor ROR-beta measurement" "acromelic dysplasia" "obsolete pigmented palpebral tumor" "sarilumab"@en "NA8-MEL cells" "level of homeobox protein HMX3 in blood serum" - "human herpesvirus 7 seropositivity" "ephrin-A2 measurement" "myopia 28, autosomal recessive" + "human herpesvirus 7 seropositivity" "obsolete primary myoclonus" "Paranasal Sinus Schneiderian Papilloma" "protocadherin-12" @@ -18016,8 +18019,8 @@ "Abnormal mitral valve physiology" "HCC515" "ring chromosome 14" - "vitreoretinal degeneration" "(cis/trans)-aconitate measurement" + "vitreoretinal degeneration" "thiosulfate sulfurtransferase measurement" "level of Rap guanine nucleotide exchange factor 5 in blood serum" "lower digestive tract" @@ -18149,8 +18152,8 @@ "phosphatidylcholine diacyl C32:1 measurement" "obsolete channelopathy" "transmembrane and coiled-coil domain-containing protein 5A measurement" - "DNA-directed RNA polymerases I, II, and III subunit RPABC4" "entorhinal cortex" + "DNA-directed RNA polymerases I, II, and III subunit RPABC4" "thyroid hemiagenesis" "obsolete congenital myopathy with excess of thin filaments" "embryonic stage 10" @@ -18162,9 +18165,9 @@ "interleukin 7 receptor subunit alpha measurement" "array reporter" "leukoplakia of vagina" - "Rare genetic systemic or rheumatologic disease" "transcription factor HES-1" "Klippel-Feil syndrome" + "Rare genetic systemic or rheumatologic disease" "level of acyl-CoA-binding domain-containing protein 4 in blood serum" "HCC2429"@en "otopalatodigital syndrome spectrum disorder" @@ -18274,9 +18277,9 @@ "lateral line ganglion" "obsolete_congenital microcoria" "animal allergen seropositivity" + "X-11478 measurement" "obsolete_anterior lateral line system" "establishment of localization in cell" - "X-11478 measurement" "red blood cell density measurement" "Charlevoix-Saguenay spastic ataxia" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" @@ -18429,8 +18432,8 @@ "obsolete_autosomal recessive polycystic kidney disease" "sialic acid-binding Ig-like lectin 9 measurement" "level of nucleolin in blood serum" - "tetradecadienoate (14:2) measurement" "equine infectious anemia" + "tetradecadienoate (14:2) measurement" "obsolete_percent oxygen" "C-type lectin domain family 12 member A" "metopic ridging-ptosis-facial dysmorphism syndrome" @@ -18539,8 +18542,8 @@ "obsolete_Nijmegen breakage syndrome-like disorder" "oroficial granulomatosis" "5-hydroxylysine measurement" - "level of NEDD8-activating enzyme E1 regulatory subunit in blood serum" "1,3,7-trimethylurate" + "level of NEDD8-activating enzyme E1 regulatory subunit in blood serum" "ectonucleotide pyrophosphatase/phosphodiesterase family member 5 measurement" "qualitative or quantitative defects of myotubularin" "chromosome 20 disorder" @@ -18593,8 +18596,8 @@ "birth rate" "CCAAT/enhancer-binding protein epsilon" "Ehlers-Danlos syndrome, arthrochalasia type" - "obsolete_microgram per milliliter" "obsolete_proximal myopathy with extrapyramidal signs" + "obsolete_microgram per milliliter" "level of ropporin-1B in blood serum" "acute myeloid leukemia, CEBPA gene mutation" "Sushi domain-containing protein 1 measurement" @@ -18610,9 +18613,9 @@ "X-25267 measurement" "obsolete_ATTRV122I amyloidosis" "4,5-dianilinophthalimide" + "CLN11 disease" "level of CAP-Gly domain-containing linker protein 2 in blood" "tibial muscular dystrophy" - "CLN11 disease" "obsolete branchial arch or oral-acral syndrome" "Pointed chin" "obsolete_MAN1B1-CDG" @@ -18681,9 +18684,9 @@ "Epidermolysis bullosa simplex with pyloric atresia" "autosomal recessive nonsyndromic hearing loss 7" "nesprin-2 measurement" - "Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations" "Abnormal central motor function" "level of epididymis-specific alpha-mannosidase in blood serum" + "Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations" "X-17653 measurement" "acromesomelic dysplasia" "obsolete_angel-shaped phalango-epiphyseal dysplasia" @@ -18728,8 +18731,8 @@ "Src kinase-associated phosphoprotein 1" "obsolete palpebral lentiginosis" "optic atrophy" - "phosphatidylcholine diacyl C40:2 measurement" "IBL4" + "phosphatidylcholine diacyl C40:2 measurement" "Breast hypertrophy" "Phytophthora sojae" "thymus gland adenocarcinoma" @@ -18780,8 +18783,8 @@ "Leber congenital amaurosis 16" "Leishmaniasis" "obsolete_beta-thalassemia major" - "space motion sickness" "Aspergillus chevalieri" + "space motion sickness" "Monocytoid Cells to Leukocytes Ratio Measurement" "level of kynurenine--oxoglutarate transaminase 3 in blood serum" "isolated ectopia lentis" @@ -18803,8 +18806,8 @@ "LRP5-related primary osteoporosis" "Trichoderma reesei QM6a" "CS57850" - "level of small RNA 2'-O-methyltransferase in blood serum" "obsolete_short stature, Brussels type" + "level of small RNA 2'-O-methyltransferase in blood serum" "bilateral microtia-deafness-cleft palate syndrome" "obsolete_complement component 3 deficiency" "phakomatosis pigmentovascularis" @@ -18816,8 +18819,8 @@ "Adenoviridae Infections" "amelogenesis imperfecta" "Synechococcus elongatus PCC 7942" - "level of band 4.1-like protein 1 in blood serum" "1-stearoyl-sn-glycero-3-phosphoethanolamine" + "level of band 4.1-like protein 1 in blood serum" "level of neogenin in blood serum" "drug induced central sleep apnea" "obsolete_autoimmune lymphoproliferative syndrome" @@ -18874,8 +18877,8 @@ "methyltransferase-like protein 11A" "congenital Horner syndrome" "Non-hereditary late-onset primary lymphedema" - "invasive lobular carcinoma" "C14:0 sphingomyelin measurement" + "invasive lobular carcinoma" "GRO-CAP" "anti-merkel cell virus antibody measurement"@en "stricture" @@ -18900,8 +18903,8 @@ "sapropterin" "obsolete_plant embryo" "kidney osteogenic sarcoma" - "serpin B6" "lignoceroyl sphingomyelin (d18:1/24:0) measurement" + "serpin B6" "level of stomatin in blood serum" "episodic kinesigenic dyskinesia 1" "26S proteasome non-ATPase regulatory subunit 9" @@ -18967,9 +18970,9 @@ "fungus seropositivity" "familial hyperthyroidism due to mutations in TSH receptor" "maxillary sensory complex primordium" - "POU domain, class 2, transcription factor 1" "level of C-Maf-inducing protein in blood" "C-type lectin domain family 4 member A" + "POU domain, class 2, transcription factor 1" "RPMI8226" "congenital disorder of glycosylation type I" "level of glutamate decarboxylase 1 in blood serum" @@ -19014,8 +19017,8 @@ "level of cytosolic 5'-nucleotidase 3A in blood" "C-C motif chemokine 3-like 1 measurement" "cervicothoracic spina bifida aperta" - "level of EKC/KEOPS complex subunit TPRKB in blood" "obsolete_dysostosis of genetic origin" + "level of EKC/KEOPS complex subunit TPRKB in blood" "obsolete_popliteal pterygium syndrome" "encephalitis" "non-immunoglobulin-mediated membranoproliferative glomerulonephritis" @@ -19031,16 +19034,16 @@ "level of Ras-related protein Rab-1A in blood serum" "NACHT, LRR and PYD domains-containing protein 1" "obsolete_autosomal recessive cutis laxa type 2" - "N-acetyltaurine measurement"@en "transmembrane protein 132A" + "N-acetyltaurine measurement"@en "SHAPE-MaP" "subthalamic nucleus" "ulna fracture" "endothelial cell of hepatic sinusoid" "convulsion" "metabolite ratio" - "protein mono-ADP-ribosyltransferase PARP16" "muscular channelopathy" + "protein mono-ADP-ribosyltransferase PARP16" "level of cold-inducible RNA-binding protein in blood serum" "Macrocytic dyserythropoietic anemia" "orthostatic intolerance" @@ -19058,11 +19061,11 @@ "Mononen-Karnes-Senac syndrome" "protein SSX4" "enol-phenylpyruvate" - "obsolete_alternating hemiplegia of childhood" "STARmap" - "Exanthema Subitum" "frontometaphyseal dysplasia" + "obsolete_alternating hemiplegia of childhood" "urocortin II" + "Exanthema Subitum" "in situ oligo" "conjunctiva" "CEDNIK syndrome" @@ -19177,8 +19180,8 @@ "mucopolysaccharidosis type 1" "Schilbach-Rott syndrome" "vasculature" - "intellectual disability-myopathy-short stature-endocrine defect syndrome" "somatosensory cortex" + "intellectual disability-myopathy-short stature-endocrine defect syndrome" "squamous cell neoplasm" "skeletal tuberculosis" "endothelial cell of respiratory system lymphatic vessel"@en @@ -19246,8 +19249,8 @@ "vitelliform macular dystrophy 2" "Thymoma Type AB" "high output heart failure" - "CD56-negative, CD161-positive immature natural killer cell, human" "ciliary dyskinesia, primary, 45" + "CD56-negative, CD161-positive immature natural killer cell, human" "protein BEX5" "benign mastocytoma" "Intrahepatic cholestasis of pregnancy" @@ -19263,12 +19266,12 @@ "level of acyl-CoA-binding protein in blood serum" "medial octavolateralis nucleus" "obsolete_inherited acute myeloid leukemia" - "obsolete_cerebral cortical dysplasia" "kinesin light chain 1" + "obsolete_cerebral cortical dysplasia" "obsolete congenital vascular bone syndrome" "obsolete rare genetic hypothalamic or pituitary disease" - "L-lactate dehydrogenase A chain" "hypopharyngeal squamous cell carcinoma" + "L-lactate dehydrogenase A chain" "chronic salpingitis" "partial deletion of the long arm of chromosome 16" "obsolete_hereditary palmoplantar keratoderma, Gamborg-Nielsen type" @@ -19291,10 +19294,10 @@ "Postsynaptic congenital myasthenic syndromes" "obsolete genetic hypertension" "inborn disorder of purine or pyrimidine metabolism" - "Pasteurella hemorrhagic septicemia" - "protocadherin beta-2 measurement" "proteomic profiling by array" + "Pasteurella hemorrhagic septicemia" "level of eukaryotic translation initiation factor 4 gamma 1 in blood serum" + "protocadherin beta-2 measurement" "cholinergic antagonist" "cortical surface area change measurement"@en "adult central nervous system germ cell tumor" @@ -19311,8 +19314,8 @@ "obsolete_congenital primary megaureter, refluxing form" "acute dacryoadenitis" "obsolete_genetic non-syndromic obesity" - "SLIT and NTRK-like protein 4 measurement" "Mydriasis" + "SLIT and NTRK-like protein 4 measurement" "X-linked recessive disease" "X-linked lethal multiple pterygium syndrome" "hepatitis virus-related hepatocellular carcinoma" @@ -19351,9 +19354,9 @@ "short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis" "obsolete_Machado-Joseph disease" "Radio-ulnar synostosis - intellectual disability - hypotonia" - "obsolete_H69" "carcinoma of supraglottis" "MORC family CW-type zinc finger protein 3" + "obsolete_H69" "dsRNA-Seq" "Microretrognathia" "Papio" @@ -19378,9 +19381,9 @@ "obsolete_floor plate rhombomere 2" "triple-negative breast cancer" "obsolete_severe congenital hypochromic anemia with ringed sideroblasts" - "N-acetylglutamate measurement" "urea transporter 1" "GM17290" + "N-acetylglutamate measurement" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7" "macrocytic anemia" "ST486" @@ -19526,8 +19529,8 @@ "complement C1q subcomponent subunit C measurement" "inborn error of immunity" "level of protein phosphatase 1 regulatory subunit 29 in blood serum" - "X-17685 measurement" "cholelithiasis" + "X-17685 measurement" "visceral Leishmaniasis" "MLS 2645-94" "level of SAGA-associated factor 29 in blood serum" @@ -19723,9 +19726,9 @@ "labial sensory complex primordium" "C-type lectin domain family 4 member D" "RWPE1" - "Partial congenital cataract" "congenital disorder of glycosylation type II" "obsolete_fatal post-viral neurodegenerative disorder" + "Partial congenital cataract" "Cerebral disease with cataract" "response to flupirtine" "obsolete_capillary" @@ -19840,15 +19843,15 @@ "GM17736" "level of DNA damage-inducible transcript 4 protein in blood serum" "sweat gland neoplasm" + "obsolete_Brachyolmia type 1, Hobaek type" + "obsolete_obesity due to melanocortin 4 receptor deficiency" "A204" "level of leukocyte immunoglobulin-like receptor subfamily B member 5 in blood serum" "response to angiotensin-converting enzyme inhibitor" "rectum malignant melanoma" "cholesterol esters in medium LDL measurement" - "obsolete_obesity due to melanocortin 4 receptor deficiency" "central nervous system hemangioma" "7,12-dimethyltetraphene" - "obsolete_Brachyolmia type 1, Hobaek type" "phosphoinositide 3-kinase adapter protein 1" "alternatively activated macrophage" "obsolete_metabolic disease involving other neurotransmitter deficiency" @@ -19873,8 +19876,8 @@ "obsolete_statoacoustic (VIII) ganglion" "1-methylxanthine measurement" "obsolete_Hyperpigmentation of the skin" - "thiamine measurement"@en "obsolete_late-onset junctional epidermolysis bullosa" + "thiamine measurement"@en "familial pseudohyperkalemia" "level of cyclic nucleotide-gated cation channel beta-1 in blood" "catecholamine secretion" @@ -19883,16 +19886,16 @@ "oocyte/zygote/embryo maturation arrest 17" "phosphatidylcholine acyl-alkyl C42:3 measurement" "autosomal dominant myoglobinuria" - "N-hexadecanoylpyrrolidine measurement" "Geobacillus sp. E263" - "lung capillary endothelial cell"@en "childhood testicular mixed germ cell cancer" "glycoprotein endo-alpha-1,2-mannosidase" "papillary adenoma" "transcription initiation factor TFIID subunit 10" - "abnormal vascular wound healing" + "N-hexadecanoylpyrrolidine measurement" + "lung capillary endothelial cell"@en "sparganosis" "level of protein WFDC13 in blood serum" + "abnormal vascular wound healing" "galectin-related protein" "CD115-positive monocyte OR common dendritic progenitor" "leucine-rich repeat-containing protein 15" @@ -19916,8 +19919,8 @@ "tripartite motif-containing protein 55" "obsolete_X-linked intellectual disability, Stocco dos Santos type" "milliliter per kilogram" - "level of peroxisomal carnitine O-octanoyltransferase in blood serum" "life expectancy" + "level of peroxisomal carnitine O-octanoyltransferase in blood serum" "anterior uveitis" "mucin-producing carcinoma" "GM17217" @@ -19974,13 +19977,13 @@ "spondylocostal dysostosis-anal and genitourinary malformations syndrome" "obsolete_lysosomal acid lipase deficiency" "kallikrein-4 measurement" - "chromosome 3q29 microdeletion syndrome" "combined oxidative phosphorylation deficiency 51" + "chromosome 3q29 microdeletion syndrome" "nuclear pore complex-interacting protein family member B3" "Thymoma Type B3" - "Tetraamelia - multiple malformations" "level of neuromedin-S in blood serum" "congenital myasthenic syndrome 15" + "Tetraamelia - multiple malformations" "2-piperidinone measurement" "spike in dilution" "kinesin-like protein KIF20B" @@ -20067,8 +20070,8 @@ "Rare non-syndromic cataract" "acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation" "palmitoyl sphingomyelin (d18:1/16:0) measurement" - "Rat-2" "Afp-GFP" + "Rat-2" "Anorexia" "Vitreous floaters" "level of interleukin-21 receptor in blood" @@ -20093,12 +20096,12 @@ "obsolete_genetic head and neck malformation" "obsolete_SRD5A3-CDG" "obsolete_partial trisomy of the long arm of chromosome 16" + "obsolete_atypical hemolytic-uremic syndrome" "small conductance calcium-activated potassium channel protein 1 measurement" "asparagine" "pyruvate dehydrogenase E1-alpha deficiency" "heterogeneous nuclear ribonucleoprotein U-like protein 1" "X-18913 measurement" - "obsolete_atypical hemolytic-uremic syndrome" "substernal goiter" "kelch-like protein 13 measurement" "beta-ureidopropionase deficiency" @@ -20165,8 +20168,8 @@ "(S)-alpha-methyl-4-carboxyphenylglycine" "Epiblepharon of lower lid" "obsolete_Beckwith-Wiedemann syndrome due to CDKN1C mutation" - "obsolete congenital disorder of glycosylation with cardiac malformation as a major feature" "penile neoplasm" + "obsolete congenital disorder of glycosylation with cardiac malformation as a major feature" "free cholesterol measurement" "lattice corneal dystrophy type I" "cAMP-dependent protein kinase type II-alpha regulatory subunit" @@ -20279,8 +20282,8 @@ "Papio anubis" "megacystis-microcolon-intestinal hypoperistalsis syndrome" "sweat gland disease" - "methylmalonic aciduria and homocystinuria type cblC" "obsolete_adactyly of foot, bilateral" + "methylmalonic aciduria and homocystinuria type cblC" "obsolete_ventral sensory complex primordium" "obsolete_X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia" "X-10429 measurement" @@ -20545,10 +20548,10 @@ "N0 lymph node stage" "megacystis-microcolon-intestinal hypoperistalsis syndrome 1" "platelet-derived growth factor subunit A measurement" + "semaphorin-6C measurement" "OVCAR5" "Exercise-induced rhabdomyolysis" "cell cycle phase" - "semaphorin-6C measurement" "HK-2"@en "activities of daily living score measurement" "cartilage thickness measurement" @@ -20649,10 +20652,10 @@ "level of cartilage acidic protein 1 in blood serum" "C-C motif chemokine 7 measurement" "embryonic anal pad" - "Constitutional deficiency anemia" "spina bifida cystica" - "optimization design" + "Constitutional deficiency anemia" "obsolete_response to zileuton" + "optimization design" "multiple intestinal atresia" "Thrombophlebitis" "head injury" @@ -20736,8 +20739,8 @@ "Stargardt disease 4" "EGF-like repeat and discoidin I-like domain-containing protein 3" "genomic DNA" - "tonsillar macrophage" "Rare genetic refraction anomaly" + "tonsillar macrophage" "C57BL/10J"@en "pontocerebellar hypoplasia type 13" "eosinophil-derived neurotoxin measurement"@en @@ -20796,10 +20799,10 @@ "obsolete_folinic acid-responsive seizures" "atypical teratoid rhabdoid tumor" "16a-hydroxy DHEA 3-sulfate measurement" + "McA-RH7777" "Convulsive status epilepticus" "angiokeratoma of scrotum" "GM17216" - "McA-RH7777" "Puccinia striiformis f. sp. tritici" "grade II glioma" "ILSXISS52/TejJ" @@ -20876,10 +20879,10 @@ "obsolete_tetramelic monodactyly" "calsyntenin-1" "level of zinc finger protein 276 in blood serum" - "Dentatorubral pallidoluysian atrophy" "leiomyosarcoma" - "Togaviridae infectious disease" + "Dentatorubral pallidoluysian atrophy" "sporophyte senescent stage" + "Togaviridae infectious disease" "X12063 measurement" "glycerol-3-phosphate dehydrogenase [NAD(+)]; cytoplasmic measurement" "sleep measurement" @@ -20933,10 +20936,10 @@ "Triphalangeal thumb - polysyndactyly syndrome" "level of Phosphatidylcholine (16:0_20:4) in blood serum" "gynoecium" - "neutrophilic promyelocyte" "trichohepatoenteric syndrome" "autosomal recessive spinocerebellar ataxia 14" "level of BTB/POZ domain-containing protein KCTD6 in blood serum" + "neutrophilic promyelocyte" "CTD small phosphatase-like protein" "deoxycholic acid glucuronide measurement" "methionine--tRNA ligase, cytoplasmic" @@ -20962,8 +20965,8 @@ "level of smoothelin in blood serum" "diffuse hemispheric glioma, H3 G34-mutant"@en "Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type" - "SF126" "level of protein TSSC4 in blood serum" + "SF126" "vaginal squamous tumor" "level of COX assembly mitochondrial protein in blood" "isolated craniosynostosis" @@ -20973,9 +20976,9 @@ "hypothyroidism due to deficient transcription factors involved in pituitary development or function" "proepiregulin" "fungal keratitis" + "cytosolic Fe-S cluster assembly factor NUBP1" "level of uteroglobin in blood" "level of inactive C-alpha-formylglycine-generating enzyme 2 in blood" - "cytosolic Fe-S cluster assembly factor NUBP1" "48,XXXY syndrome" "methylmalonic aciduria and homocystinuria type cblD" "metoprolol measurement" @@ -21006,9 +21009,9 @@ "muscle-eye-brain disease" "infantile spasms-broad thumbs syndrome" "complement C1q tumor necrosis factor-related protein 5 measurement" - "X-14541 measurement" "neural proliferation differentiation and control protein 1" "Isoleucyl-Threonine" + "X-14541 measurement" "CaSki" "erythrocyte measurement" "level of interferon alpha-6 in blood serum" @@ -21133,8 +21136,8 @@ "glossodynia" "level of ATPase WRNIP1 in blood serum" "Léri-Weill dyschondrosteosis" - "muscle system process" "BK polyomavirus" + "muscle system process" "GPI anchor biosynthetic process" "primary short bowel syndrome" "bowel dysfunction" @@ -21201,16 +21204,16 @@ "tumor susceptibility gene 101 protein" "Cayman type cerebellar ataxia" "primordium" + "obsolete_Lissencephaly" "serum hepcidin measurement" "childhood kidney neoplasm" - "obsolete_Lissencephaly" "platelet endothelial cell adhesion molecule measurement"@en "Dictyostelium purpureum" "trichloroethylene-induced hypersensitivity" + "PacBio RS II" "level of transmembrane protein 25 in blood serum" "pallium" "embryonic central brain" - "PacBio RS II" "Phalaenopsis aphrodite subsp. formosana" "spermatogenic failure 29" "palmoplantar keratoderma, epidermolytic" @@ -21245,10 +21248,10 @@ "obsolete_neurogenic placode" "level of exosome complex component 10 in blood" "cystatin-like 1" - "GH3 domain-containing protein measurement" "kallikrein-12 measurement" "10x 3' transcription profiling" "N1 lymph node stage" + "GH3 domain-containing protein measurement" "SRA stem-loop-interacting RNA-binding protein, mitochondrial" "spotted double stranded DNA reporter" "level of dysbindin in blood serum" @@ -21278,12 +21281,12 @@ "level of D-dopachrome decarboxylase in blood serum" "49,XXXYY syndrome" "chronic interstitial cystitis" + "concentration of large HDL particles measurement" + "ONT GridION X5" "Abnormal blood glucose concentration" "level of LIM domain kinase 1 in blood serum" - "ONT GridION X5" - "concentration of large HDL particles measurement" - "hyper-IgM syndrome" "forkhead box protein M1" + "hyper-IgM syndrome" "Adenoid Cystic Breast Carcinoma" "SU.86.86" "autosomal recessive cutis laxa type 2" @@ -21352,8 +21355,8 @@ "obsolete_classic pantothenate kinase-associated neurodegeneration" "frontal lobe ependymal tumor" "phenol glucuronide measurement" - "RKN" "level of vesicle-associated membrane protein-associated protein B/C in blood serum" + "RKN" "Generalized pseudohypoaldosteronism type 1" "obsolete_bradyopsia" "probable ATP-dependent RNA helicase DDX4" @@ -21428,13 +21431,13 @@ "CGR8" "cholate" "paroxysmal dystonia" - "obsolete_trisomy 17p" - "LXF-289" "Micropapillary Serous Carcinoma" + "LXF-289" "endothelin-1" "presumptive pronephric mesoderm" "level of peroxisome proliferator-activated receptor gamma coactivator 1-alpha in blood serum" "1-methyladenosine" + "obsolete_trisomy 17p" "Eye Injuries, Penetrating" "pleckstrin homology domain-containing family A member 7 measurement" "traditional Korean medicine type"@en @@ -21459,8 +21462,8 @@ "obsolete_familial retinal arterial macroaneurysm" "developmental delay with or without dysmorphic facies and autism" "X-21285 measurement" - "Salmo salar" "CBA/J" + "Salmo salar" "developmental and epileptic encephalopathy, 44" "Fc-epsilon RIalpha-high basophil progenitor cell" "histatin-3" @@ -21553,8 +21556,8 @@ "radiodermatitis" "adenosine deaminase activity" "bundle branch block" - "KS-IMM" "myeloid leukocyte" + "KS-IMM" "END-seq" "obsolete_Autosomal recessive spastic paraplegia type 21" "obsolete_King-Denborough syndrome" @@ -21605,9 +21608,9 @@ "ATR-X-related syndrome" "ameloblastin measurement" "anthranilate measurement" - "Von Willebrand disease type 2" "leaf sheath" "Cowden syndrome 7" + "Von Willebrand disease type 2" "nephrolithiasis, calcium oxalate" "level of beta-hexosaminidase subunit alpha in blood serum" "level of AP-1 complex subunit sigma-2 in blood serum" @@ -21710,19 +21713,19 @@ "Ehlers-Danlos syndrome, kyphoscoliotic type 1" "2-hydroxyglutarate measurement"@en "congenital genu recurvatum" - "obsolete_hyperphalangy, bilateral" "autosomal recessive disease" + "obsolete_hyperphalangy, bilateral" "obsolete_qualitative or quantitative defects of desmin" "level of testis-specific serine/threonine-protein kinase 1 in blood serum" "trypsin-1 measurement" "familial sick sinus syndrome" + "obsolete_immuno-osseous dysplasia" "syndromic craniosynostosis" "level of protein canopy homolog 2 in blood" "Gout" "sepal primordium visible stage" "Papio hamadryas" "Abnormality of the pulmonary veins" - "obsolete_immuno-osseous dysplasia" "inflammation" "peripheral hypothyroidism" "mucosa of large intestine" @@ -21770,8 +21773,8 @@ "familial acanthosis nigricans" "Triticum dicoccon" "neonatal diabetes mellitus with congenital hypothyroidism" - "phosphatidylcholine diacyl C36:4 measurement" "obsolete_branchiogenic deafness syndrome" + "phosphatidylcholine diacyl C36:4 measurement" "indol-3-ylacetyl-myo-inositol L-arabinoside measurement" "insulin-like growth factor-binding protein 5 measurement" "level of adenylyltransferase and sulfurtransferase MOCS3 in blood serum" @@ -22035,10 +22038,10 @@ "desmin-related myopathy with Mallory body-like inclusions" "neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies" "level of spartin in blood serum" - "Adenomatoid Odontogenic Tumor" "total lipids in large HDL" "cerebral hemangioma" "cis-4-decenoylcarnitine (C10:1) measurement" + "Adenomatoid Odontogenic Tumor" "SUIT-2" "thymocyte" "right atrial minimum area measurement"@en @@ -22124,9 +22127,9 @@ "obsolete_blastula stage" "tsangane l 3-glucoside measurement" "endometrioid stromal sarcoma of the vagina" + "3-hydroxypropylmercapturic acid measurement" "testin" "GM07022" - "3-hydroxypropylmercapturic acid measurement" "zinc finger protein 276" "median nodule of the upper lip" "obsolete_brittle cornea syndrome" @@ -22156,11 +22159,11 @@ "prurigo nodularis" "semaphorin-3E measurement" "transcription factor PML" + "obsolete_Lafora disease" "phosphatidylcholine 33:0 measurement" "extraversion measurement" "central sleep apnea syndrome" "partial duplication of chromosome 7" - "obsolete_Lafora disease" "GM17285" "Mycobacterium tuberculosis H37Rv" "Abnormal morphology of female internal genitalia" @@ -22168,10 +22171,10 @@ "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A" "spinocerebellar ataxia, autosomal recessive 24" "level of ATP-dependent RNA helicase DDX1 in blood serum" + "obsolete_hereditary sensory and autonomic neuropathy type 1B" "grapefruit juice consumption measurement" "ONT PromethION" "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency" - "obsolete_hereditary sensory and autonomic neuropathy type 1B" "central nervous system mesenchymal non-meningothelial tumor" "transitional cell papilloma" "level of dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C in blood" @@ -22234,11 +22237,11 @@ "hypertrichosis" "GLUT1 deficiency syndrome" "leukemia inhibitory factor receptor measurement" - "obsolete_familial avascular necrosis of femoral head" "pregnenolone sulfate measurement" "BP8" - "Achondroplasia" "essential hypertension" + "obsolete_familial avascular necrosis of femoral head" + "Achondroplasia" "obsolete_2p21 microdeletion syndrome without cystinuria" "C-X-C motif chemokine 5 measurement" "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 measurement" @@ -22247,9 +22250,9 @@ "melanocortin-2 receptor accessory protein 2 measurement" "idiopathic cardiomyopathy" "obsolete_von Hippel-Lindau disease" + "DNA/RNA-binding protein KIN17 measurement" "white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome" "adult cystic teratoma" - "DNA/RNA-binding protein KIN17 measurement" "familial idiopathic dilatation of the right atrium" "E3 ubiquitin-protein ligase RNF114 measurement" "bladder verrucous carcinoma" @@ -22260,9 +22263,9 @@ "obsolete_Amish lethal microcephaly" "phosphatidylethanolamine-binding protein 1 measurement" "macrophage migration inhibitory factor measurement" - "hypercementosis" "autosomal recessive limb-girdle muscular dystrophy type 2A" "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder" + "hypercementosis" "skin papilloma" "X-18935 measurement" "Streptomyces coelicolor A3(2)" @@ -22270,8 +22273,8 @@ "level of T-cell-specific surface glycoprotein CD28 in blood" "level of dystroglycan 1 in blood serum" "benign neoplasm of adrenal gland" - "leukemia, acute lymphoblastic, susceptibility to, 3" "Hereditary vascular retinopathy" + "leukemia, acute lymphoblastic, susceptibility to, 3" "GM15850" "high mobility group protein 20A" "granular corneal dystrophy type II" @@ -22323,12 +22326,12 @@ "far red light regimen" "RELT-like protein 2" "obsolete_synpolydactyly type 3" - "free cholesterol to total lipids in large LDL percentage " "circulating cell free DNA measurement" "hyperlipidemia due to hepatic triglyceride lipase deficiency" + "free cholesterol to total lipids in large LDL percentage " "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial" - "ubiquilin-2" "phosphatidylcholine 36:2" + "ubiquilin-2" "transferrin receptor protein 1" "level of platelet basic protein in blood serum" "phosphatidylcholine 40:3" @@ -22365,8 +22368,8 @@ "kinetin" "calsequestrin-2" "transcription factor JunD" - "GM09579" "Streptomyces maritimus" + "GM09579" "diastrophic dysplasia" "level of protein O-glucosyltransferase 3 in blood serum" "lung endoderm" @@ -22421,8 +22424,8 @@ "atrial fibrillation, familial, 3" "obsolete_congenital fiber-type disproportion myopathy" "cytokine receptor-like factor 1" - "smooth muscle cancer" "Genetic vitreous-retinal disease" + "smooth muscle cancer" "hereditary methemoglobinemia" "Sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0) measurement" "hypermobility syndrome" @@ -22438,8 +22441,8 @@ "Hs 683" "mitochondrial complex 4 deficiency, nuclear type 4" "mouth mucosa disorder" - "butyric acid" "obsolete_pigmented palpebral tumor" + "butyric acid" "CD14-positive, CD16-negative classical monocyte" "level of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 in blood serum" "Propionibacterium freudenreichii subsp. shermanii" @@ -22470,13 +22473,13 @@ "biofilm" "Early-onset parkinsonism - intellectual disability" "squamous carcinoma in situ" - "carbonyl reductase [NADPH] 3 measurement" "level of integrin alpha-11 in blood" - "endoplasmic reticulum lectin 1 measurement" "autosomal recessive nemaline myopathy"@en + "carbonyl reductase [NADPH] 3 measurement" "glutamate receptor ionotropic, NMDA 2B" "DL-P-hydroxyphenyllactic acid measurement" "SUDHL6" + "endoplasmic reticulum lectin 1 measurement" "obsolete_presumptive brain" "short-rib thoracic dysplasia 7/20 with polydactyly, digenic" "acyl-CoA dehydrogenase 9 deficiency" @@ -22554,10 +22557,10 @@ "NOME-Seq" "laryngeal neoplasm" "Adducted thumbs - arthrogryposis, Christian type" - "obsolete_cortex of kidney" - "Sensorineural hearing impairment" "pyrin domain-containing protein 1 measurement" + "Sensorineural hearing impairment" "level of Phosphatidylcholine (16:0_22:4) in blood serum" + "obsolete_cortex of kidney" "immunodeficiency 31B" "Autosomal recessive infantile hypercalcemia" "level of transcriptional adapter 1-like protein in blood serum" @@ -22650,9 +22653,9 @@ "docosapentaenoic acid measurement" "Cellulitis" "regulation of muscle contraction" + "Leukoencephalopathy - ataxia - hypodontia - hypomyelination" "Weil's disease" "myocardium trabecular layer" - "Leukoencephalopathy - ataxia - hypodontia - hypomyelination" "level of citrate synthase, mitochondrial in blood serum" "Gonosome number anomaly" "anther" @@ -22723,8 +22726,8 @@ "adrenal suppression measurement" "Kaposi's sarcoma" "obsolete_rhizomelic chondrodysplasia punctata type 2" - "collagen alpha-1(I) chain" "obsolete_congenital short bowel syndrome" + "collagen alpha-1(I) chain" "D04 cell" "Enchytraeus albidus" "obsolete_seborrhea-like dermatitis with psoriasiform elements" @@ -22771,8 +22774,8 @@ "microgram per liter" "Congenital disorder of glycosylation with cardiac malformation as a major feature" "alcoholic cardiomyopathy" - "fetal anticonvulsant syndrome" "Glanzmann thrombasthenia 1" + "fetal anticonvulsant syndrome" "peripheral arterial disease" "angioid streaks of choroid" "growth/differentiation factor 7" @@ -22785,8 +22788,8 @@ "level of T-box transcription factor TBX3 in blood serum" "Parse Evercode Whole Transcriptome v2"@en "level of maspardin in blood serum" - "level of ankyrin repeat domain-containing protein 16 in blood serum" "2s,3R-dihydroxybutyrate measurement" + "level of ankyrin repeat domain-containing protein 16 in blood serum" "cell type comparison design" "O-cresol sulfate measurement" "1-arachidonoyl-sn-glycero-3-phosphoethanolamine" @@ -22828,8 +22831,8 @@ "level of folate receptor beta in blood" "obsolete_achondrogenesis" "Microcornea - glaucoma - absent frontal sinuses" - "multiple pterygium-malignant hyperthermia syndrome" "obsolete_embryonic outer optic lobe primordium" + "multiple pterygium-malignant hyperthermia syndrome" "glucocorticoid modulatory element-binding protein 2 measurement" "Ly49D-positive natural killer cell, mouse" "Erwinia chrysanthemi" @@ -22848,13 +22851,13 @@ "Estland ecotype" "obsolete_mosaic trisomy 8" "openness measurement" - "partial duplication of chromosome 8" "obsolete_Tessier number 5 facial cleft" + "partial duplication of chromosome 8" "C-X-C motif chemokine 11 measurement" "obsolete_endothelium" "SLC35A1-congenital disorder of glycosylation" - "Escherichia coli K-12" "margarate" + "Escherichia coli K-12" "synaptonemal complex central element protein 1-like" "collagen type II alpha chain" "Moyamoya disease 5" @@ -22975,15 +22978,15 @@ "amelogenesis imperfecta, IIa 1K" "Autism with high cognitive abilities" "RWP-1" + "microscopic polyangiitis" "Stramenopiles" "infantile glycine encephalopathy" - "microscopic polyangiitis" "childhood-onset nemaline myopathy" "acquired factor XIII deficiency" "Rare genetic disorder with obstructive azoospermia" + "melanocortin-2 receptor accessory protein measurement" "level of WW domain-binding protein 2 in blood serum" "RMUG-S" - "melanocortin-2 receptor accessory protein measurement" "RERF-LC-AI" "U-178MG" "obsolete_WAGR syndrome" @@ -22994,9 +22997,9 @@ "DnaJ homolog subfamily B member 11 measurement" "Staphylococcus epidermidis" "level of signal-regulatory protein beta-2 in blood serum" - "netrin receptor UNC5B" "Broad face" "immature basophil" + "netrin receptor UNC5B" "purine ribonucleoside monophosphate metabolic process" "Autosomal recessive spastic paraplegia type 23" "secondary dysgenetic glaucoma" @@ -23055,10 +23058,10 @@ "obsolete_pyruvate carboxylase deficiency, benign type" "protein syndesmos measurement" "obsolete_acro-renal-mandibular syndrome" + "t-box transcription factor TBX22 measurement" "level of protein disulfide-isomerase A2 in blood" "hepatoma-derived growth factor-like protein 1" "spondylocamptodactyly syndrome" - "t-box transcription factor TBX22 measurement" "small intestine serosal dendritic cell" "mercury dichloride" "dasatinib (anhydrous)" @@ -23090,11 +23093,11 @@ "Dickeya dadantii" "level of 26S proteasome non-ATPase regulatory subunit 9 in blood" "response to ketogenic diet" - "Diffuse Melanocytosis" "syndromic X-linked intellectual disability Najm type" - "CD27-high, CD11b-low natural killer cell, mouse" + "Diffuse Melanocytosis" "kallikrein-6" "common variable immunodeficiency" + "CD27-high, CD11b-low natural killer cell, mouse" "GM14433" "Undifferentiated Pancreatic Carcinoma" "part per million" @@ -23121,8 +23124,8 @@ "carbonic anhydrase 12" "autoimmune pancreatitis" "benign neoplasm of pericardium" - "junction plakoglobin" "cell death" + "junction plakoglobin" "obsolete congenital myotonia" "Central scotoma" "hyperdibasic aminoaciduria type 1" @@ -23202,8 +23205,8 @@ "obsolete_aprosencephaly cerebellar dysgenesis" "estrogen" "LP.13 thirteen leaves visible stage" - "Death in infancy" "obsolete_upper limb mesomelic dysplasia" + "Death in infancy" "AG04147" "antileukoproteinase measurement" "N-acetylputrescine measurement" @@ -23229,8 +23232,8 @@ "Brucella melitensis bv. 1 str. 16M" "Krabbe disease" "obsolete resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta" - "autosominal recessive combined pituitary hormone deficiency"@en "gonococcal salpingitis" + "autosominal recessive combined pituitary hormone deficiency"@en "Meckel syndrome, type 6" "Dodecanedioic aicd measurement" "GM17238" @@ -23307,10 +23310,10 @@ "obsolete_fine-Lubinsky syndrome" "pain agnosia" "X-03088 measurement" + "NS-seq" "vegetative shoot apex" "interferon-inducible protein AIM2" "Duane-radial ray syndrome" - "NS-seq" "galanin-like peptide" "beta-1,4-galactosyltransferase 6" "nucleobindin-1" @@ -23347,8 +23350,8 @@ "Seborrheic dermatitis" "uterus" "level of thiosulfate sulfurtransferase in blood serum" - "Abnormal facial shape" "epithelial cell" + "Abnormal facial shape" "level of chondrosarcoma-associated gene 2/3A protein in blood serum" "Rhabdoviridae infectious disease, non-human animal" "AQP4-IgG-negative neuromyelitis optica" @@ -23362,8 +23365,8 @@ "C-X-C motif chemokine 2" "THP-1" "4-allylcatechol sulfate measurement" - "embryonic stage 4" "erythrocyte count" + "embryonic stage 4" "X-linked cone dysfunction syndrome with myopia" "1-amino-24-dibromoanthraquinone measurement" "Kremen protein 1" @@ -23387,8 +23390,8 @@ "experimental process" "anti-p200 pemphigoid" "xylitol" - "triacylglycerol 48:4 measurement"@en "alpha-1-acid glycoprotein 1" + "triacylglycerol 48:4 measurement"@en "obsolete_preoptic area" "level of ninjurin-1 in blood" "microcephaly-cardiac defect-lung malsegmentation syndrome" @@ -23476,8 +23479,8 @@ "neurexin-3-beta measurement" "mammalian vulva" "Rare male infertility due to adrenal disorder of genetic origin" - "hypopigmentation of the skin" "isoursodeoxycholate sulfate (2) measurement" + "hypopigmentation of the skin" "CAL62" "transforming growth factor-alpha measurement" "apolipoprotein E measurement" @@ -23506,9 +23509,9 @@ "carboxypeptidase A2 measurement" "frozen shoulder" "leucine-rich repeat LGI family member 3 measurement" + "interleukin-12 receptor subunit beta-1 measurement" "tropanyl 3,5-dimethylbenzoate" "macrocephaly-spastic paraplegia-dysmorphism syndrome" - "interleukin-12 receptor subunit beta-1 measurement" "digestive tract malformation" "3-Indoxylsulfate measurement" "heart process" @@ -23539,8 +23542,8 @@ "chromosome conformation capture assay" "fibroma of prostate" "obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature" - "Rare disorder with hypogonadotropic hypogonadism" "probable tRNA(His) guanylyltransferase" + "Rare disorder with hypogonadotropic hypogonadism" "Curly hair-acral keratoderma-caries syndrome" "zinc finger protein 329 measurement" "obsolete_hypopharynx anlage in statu nascendi" @@ -23555,8 +23558,8 @@ "level of Phosphatidylcholine (O-16:1_16:0) in blood serum" "fluphenazine" "Chronic Eosinophilic Leukemia, Not Otherwise Specified" - "platelet factor 4 measurement" "level of transcription elongation factor A protein-like 3 in blood serum" + "platelet factor 4 measurement" "level of serine/threonine-protein kinase ULK3 in blood serum" "primary Bacillaceae infectious disease" "Qazi-Markouizos syndrome" @@ -23622,8 +23625,8 @@ "ductus arteriosus" "artificially sweetened beverage consumption measurement" "Illumina MiniSeq" - "U-2932" "septin-5" + "U-2932" "mitral valve" "orotidine" "obsolete autosomal ichthyosis syndrome" @@ -23642,8 +23645,8 @@ "Pallister-W syndrome" "visuospatial impairment" "fibrosarcoma" - "obsolete_short stature-heart defect-craniofacial anomalies syndrome" "obsolete genetic transient congenital hypothyroidism" + "obsolete_short stature-heart defect-craniofacial anomalies syndrome" "nanogram per liter" "level of myomesin-3 in blood serum" "U8 snoRNA-decapping enzyme" @@ -23680,8 +23683,8 @@ "postaxial polydactyly type A, bilateral" "immunodeficiency 72 with autoinflammation" "linear atrophoderma of Moulin" - "cancer-related condition" "anterior chamber depth measurement" + "cancer-related condition" "interleukin-31" "level of twinfilin-2 in blood serum" "signal transducer and activator of transcription 3 measurement" @@ -23699,8 +23702,8 @@ "NF2-related schwannomatosis" "level of forkhead box protein O3 in blood serum" "exercise" - "Dysostosis with limb and face anomalies as a major feature" "acquired factor X deficiency" + "Dysostosis with limb and face anomalies as a major feature" "neuroinflammatory disorder"@en "olfactory epithelium" "RTS3b" @@ -23747,10 +23750,10 @@ "obsolete_Gollop-Wolfgang complex" "4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5" "Streptococcus pseudopneumoniae" - "90C" "benign recurrent intrahepatic cholestasis type 1" - "level of fumarylacetoacetase in blood serum" + "90C" "Pinus radiata" + "level of fumarylacetoacetase in blood serum" "level of E3 ubiquitin-protein ligase RNF149 in blood serum" "level of serine protease inhibitor Kazal-type 1 in blood serum" "limb injury" @@ -23760,10 +23763,10 @@ "hepatitis B virus infection" "future forebrain" "level of signal-regulatory protein gamma in blood serum" - "obsolete_N syndrome" - "Autosomal recessive spastic paraplegia type 24" "ciglitazone" "basophilic metamyelocyte" + "obsolete_N syndrome" + "Autosomal recessive spastic paraplegia type 24" "1-palmitoyl-2-arachidonoyl-GPE (16:0/20:4) measurement" "high fat diet" "GM17154" @@ -23809,9 +23812,9 @@ "obsolete other inborn metabolic disease" "folic acid" "urethra adenocarcinoma" + "very low density lipoprotein cholesterol change measurement" "immunodeficiency 62" "MAF" - "very low density lipoprotein cholesterol change measurement" "small VCP/p97-interacting protein" "cingulate cortex measurement" "level of inactive tyrosine-protein kinase 7 in blood serum" @@ -23826,30 +23829,30 @@ "1-palmitoyl-2-arachidonoyl-GPC (16:0/20:4n6) measurement" "MDST8" "1-methylguanine" - "IST1 homolog" "obsolete_ovarian follicle stage II" + "IST1 homolog" "obsolete syndromic retinitis pigmentosa" "genomic data" "obsolete_hyperostosis cranialis interna" "genetically isolated population"@en "level of tyrosine-protein phosphatase non-receptor type 9 in blood serum" + "Familial renal amyloidosis due to lysozyme variant" "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" "hypodermis" "Leukoencephalopathy - dystonia - motor neuropathy" - "Familial renal amyloidosis due to lysozyme variant" "3,4-methyleneheptanoate measurement" "level of collagen alpha-1(X) chain in blood serum" "platelet-type bleeding disorder 8" "level of proline-serine-threonine phosphatase-interacting protein 1 in blood" - "obsolete_PGM-CDG" "edema" + "obsolete_PGM-CDG" "ML-DmD9" "hereditary spastic paraplegia 34" "infantile bilateral striatal necrosis" "Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells" - "obsolete_lateral meningocele syndrome" "level of protein BTG4 in blood serum" "superoxide dismutase [Cu-Zn]" + "obsolete_lateral meningocele syndrome" "1-stearoyl-2-arachidonoyl-GPS (18:0/20:4) measurement" "renal glomerulus" "obsolete_disorder of mineral absorption and transport" @@ -23861,9 +23864,9 @@ "X-12990--docosapentaenoic acid n6-DPA measurement" "Cervus elaphus hispanicus" "syntaxin-10" + "cervical incompetence" "LP.09 nine leaves visible" "qualitative" - "cervical incompetence" "level of coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial in blood serum" "minocycline" "translin" @@ -24108,8 +24111,8 @@ "tumor necrosis factor ligand superfamily member 18 measurement" "3-Indolepropionic acid to L-Pipecolic acid ratio" "atypical Werner syndrome" - "microcephalic osteodysplastic dysplasia, Saul-Wilson type" "Dede" + "microcephalic osteodysplastic dysplasia, Saul-Wilson type" "autoimmune bullous skin disease" "obsolete_RNA-seq" "spinocerebellar ataxia, autosomal recessive 31" @@ -24237,9 +24240,9 @@ "obsolete_thorax" "nicotinamide" "citrate(2-)" + "level of deaminated glutathione amidase in blood" "46,XX ovotesticular disorder of sex development" "spectrin beta chain, non-erythrocytic 2" - "level of deaminated glutathione amidase in blood" "High Grade Surface Osteosarcoma" "smooth muscle contraction" "embryonic day 10.5" @@ -24248,8 +24251,8 @@ "obsolete_familial hyperreninemic hypoaldosteronism type 2" "COX assembly mitochondrial protein" "autoimmune disorder of musculoskeletal system" - "obsolete_partial trisomy/tetrasomy of chromosome 18" "tyrosine-protein kinase YES measurement" + "obsolete_partial trisomy/tetrasomy of chromosome 18" "obsolete_progressive familial intrahepatic cholestasis type 3" "spinocerebellar ataxia type 25" "combined malonic and methylmalonic acidemia" @@ -24409,8 +24412,8 @@ "obsolete_oligocone trichromacy" "obsolete_SJRCH30" "level of E3 ISG15--protein ligase HERC5 in blood serum" - "alpha-2,8-sialyltransferase 8B measurement" "DnaJ homolog subfamily B member 2 measurement" + "alpha-2,8-sialyltransferase 8B measurement" "GM17807" "future spinal cord" "eukaryotic translation initiation factor 5A-2" @@ -24443,9 +24446,9 @@ "segmentation 5-9 somites" "odontotrichomelic syndrome" "Autosomal dominant deafness-onychodystrophy syndrome" + "obsolete_spinocerebellar ataxia type 30" "myristoyl-linoleoyl-glycerol (14:0/18:2) [1] measurement" "cocaine- and amphetamine-regulated transcript protein" - "obsolete_spinocerebellar ataxia type 30" "teasterone" "epidemic pleurodynia" "hyperprolinemia type 1" @@ -24463,22 +24466,22 @@ "valine-to-proline ratio" "spastic paraplegia 84, autosomal recessive"@en "skin neoplasm" - "level of TIP41-like protein in blood serum" "caspase recruitment domain-containing protein 19" + "level of TIP41-like protein in blood serum" "obsolete rare male infertility due to adrenal disorder of genetic origin" + "obsolete_Cataract-glaucoma" "protein unc-93 homolog B1 measurement" - "sugar sweetened beverage consumption measurement" "low fat diet" "GM17157" "level of golgin subfamily A member 7 in blood" + "sugar sweetened beverage consumption measurement" "septin-6" "peritoneal benign neoplasm" - "obsolete_Cataract-glaucoma" + "Lung Papilloma" "neck circumference" "level of [pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial in blood" "blood toxic metal measurement" "Eiken syndrome" - "Lung Papilloma" "t-box transcription factor TBX5 measurement" "E3 ISG15--protein ligase HERC5 measurement" "primary progressive multiple sclerosis" @@ -24605,8 +24608,8 @@ "GM17283" "level of Phosphatidylethanolamine (O-18:2_18:2) in blood serum" "guanine nucleotide-binding protein G(i) subunit alpha-1" - "lateral cord neuron" "Arthroderma racemosum" + "lateral cord neuron" "level of nitric oxide synthase-interacting protein in blood serum" "membrane magnesium transporter 1 measurement" "obsolete_Waardenburg syndrome type 2" @@ -24625,8 +24628,8 @@ "Autosomal recessive spastic paraplegia type 25" "Ara-C-resistant murine leukemia" "phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform measurement" - "hydranencephaly" "progesterone-receptor positive breast cancer" + "hydranencephaly" "level of period circadian protein homolog 3 in blood" "DNA-directed RNA polymerases I, II, and III subunit RPABC1" "level of bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in blood serum" @@ -24694,13 +24697,13 @@ "level of microtubule-associated protein RP/EB family member 1 in blood serum" "Glycogen storage disease due to phosphorylase kinase deficiency" "Seckel syndrome 7" - "Angioleiomyoma" "otodental syndrome" + "Angioleiomyoma" "Familial renal amyloidosis due to fibrinogen A alpha-chain variant" "obsolete_congenital achiasma" + "male genital tuberculosis" "level of collagen alpha-2(XI) chain in blood serum" "3-ketoacyl-CoA thiolase, peroxisomal" - "male genital tuberculosis" "bitter beverage consumption measurement" "obstructive hydrocephalus" "Birt-Hogg-Dube syndrome" @@ -24719,8 +24722,8 @@ "Metabolic disease due to other fatty acid oxidation disorder" "peroxisome biogenesis disorder, complementation group 7"@en "obsolete_bone of lower extremity" - "Familial cold urticaria" "insulin-resistance syndrome type A" + "Familial cold urticaria" "primary biliary cirrhosis" "prolylproline measurement" "Smith-McCort dysplasia 1" @@ -24787,8 +24790,8 @@ "tumor necrosis factor receptor superfamily member 12A measurement" "level of integrin beta-1-binding protein 2 in blood" "hypomyelinating leukodystrophy 3" - "obsolete_linear atrophoderma of Moulin" "visceral:abdominal adipose tissue ratio measurement" + "obsolete_linear atrophoderma of Moulin" "interleukin 5 measurement" "Primary dystonia, DYT4 type" "spina bifida-hypospadias syndrome" @@ -24881,8 +24884,8 @@ "pleomorphic xanthoastrocytoma" "tartronate (hydroxymalonate) measurement" "autosomal recessive degenerative and progressive cerebellar ataxia" - "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies" "Herpes Labialis" + "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies" "thioredoxin reductase 1, cytoplasmic measurement" "microfibrillar-associated protein 2" "obsolete_otic lateral line neuromast" @@ -24908,9 +24911,9 @@ "suprabasal epidermolysis bullosa simplex" "extrahepatic bile duct adenocarcinoma" "obsolete dermis elastic tissue disorder" - "X-04357 measurement" "obsolete_hyosymplectic cartilage" "worry measurement" + "X-04357 measurement" "nuc-ChIP-seq" "dyssegmental dysplasia-glaucoma syndrome" "cardiac muscle tissue" @@ -25004,8 +25007,8 @@ "p-tau:beta-amyloid 1-42 ratio measurement" "achievement of target heart rate, self-reported" "transcription factor E2F5" - "stage 5 chronic kidney disease" "level of Sphingomyelin (d40:2) in blood serum" + "stage 5 chronic kidney disease" "level of uncharacterized protein C1orf226 (human) in blood serum" "spinocerebellar ataxia 27A" "nociceptive flexion reflex threshold"@en @@ -25076,8 +25079,8 @@ "obsolete rare hereditary disease with peripheral neuropathy" "Lauric acid measurement" "Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure" - "anal gland neoplasm" "tripartite motif-containing protein 3" + "anal gland neoplasm" "acetyl-coenzyme A thioesterase" "primary qualitative or quantitative defects of alpha-dystroglycan" "Anemonia viridis" @@ -25086,9 +25089,9 @@ "level of golgin subfamily A member 3 in blood" "Abnormal calvaria morphology" "regulation of digestive system process" - "obsolete_spondylocamptodactyly syndrome" "response to paracetamol" "D-dopachrome decarboxylase" + "obsolete_spondylocamptodactyly syndrome" "multiple benign circumferential skin creases on limbs 1" "material sample" "level of pikachurin in blood serum" @@ -25131,10 +25134,10 @@ "sclerosing cholangitis" "GM12869" "X-23637 measurement" + "PEAT" "UV excision repair protein RAD23 homolog A" "musculo-skeletal system cell" "temperature" - "PEAT" "GM17808" "embryonic day 9" "dipeptidase 1" @@ -25159,15 +25162,15 @@ "level of membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 in blood serum" "obsolete_mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" "translation machinery-associated protein 16" + "Salivary Gland Acinic Cell Carcinoma" "level of RING finger protein 24 in blood serum" "aldehyde dehydrogenase, dimeric NADP-preferring" - "Salivary Gland Acinic Cell Carcinoma" "X-11452 measurement" "obsolete_infantile-onset autosomal recessive nonprogressive cerebellar ataxia" "gamma-crystallin C" + "alpha-2,8-sialyltransferase 8F measurement" "level of adenylate kinase 4, mitochondrial in blood serum" "mucosal type mast cell" - "alpha-2,8-sialyltransferase 8F measurement" "X-04499--3,4-dihydroxybutyrate-to-C-glycosyltryptophan ratio" "hemangiopericytoma, malignant" "obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature" @@ -25295,19 +25298,19 @@ "regulation of hormone secretion" "level of phytanoyl-CoA dioxygenase domain-containing protein 1 in blood serum" "glossopalatine ankylosis" - "phosphoglycerate kinase 1 measurement" "Myotonia" "mitochondrial import inner membrane translocase subunit Tim10" + "phosphoglycerate kinase 1 measurement" "Clinodactyly of the 4th toe" "carotid atherosclerosis" "X-linked cerebellar ataxia" "Lactococcus lactis subsp. hordniae" "BOS complex subunit NCLN" "antibacterial drug" + "level of microtubule-associated serine/threonine-protein kinase 4 in blood serum" "level of death-associated protein kinase 1 in blood serum" "Partial agenesis of the corpus callosum" "mature T-cell and NK-cell non-Hodgkin lymphoma" - "level of microtubule-associated serine/threonine-protein kinase 4 in blood serum" "abnormal result of function studies" "Mirror polydactyly - vertebral segmentation - limbs defects" "level of protein FAM221B in blood serum" @@ -25429,8 +25432,8 @@ "level of endonuclease 8-like 2 in blood serum" "ilium" "Ureter Carcinoma" - "hyperostosis corticalis generalisata" "X-12253 measurement" + "hyperostosis corticalis generalisata" "malignant vaginal mixed epithelial and mesenchymal neoplasm" "citrullinemia" "glycosyl-N-stearoyl-sphingosine (d18:1/18:0) measurement" @@ -25440,12 +25443,12 @@ "cell population proliferation" "minute" "Genetic obesity" + "streptococcus seropositivity" "COV644" "Lactic acidosis" "presynaptic congenital myasthenic syndrome" "SD minus nitrogen" "testis sarcoma" - "streptococcus seropositivity" "syntaxin-12" "transmembrane protein PVRIG" "LP.10 ten leaves visible stage" @@ -25453,8 +25456,8 @@ "N-cinnamoylglycine" "chickenpox" "level of ubiquitin thioesterase otulin in blood serum" - "Primary bone dysplasia with decreased bone density" "ulnar hypoplasia-split foot syndrome" + "Primary bone dysplasia with decreased bone density" "obsolete_spiracle" "obsolete congenital intestinal transport defect" "level of carboxypeptidase Q in blood serum" @@ -25582,10 +25585,10 @@ "Marden-Walker syndrome" "acquired ichthyosis" "secondary biliary cirrhosis" - "intellectual disability-strabismus syndrome" "megakaryocyte-associated tyrosine-protein kinase measurement" - "skeletal muscle tissue" + "intellectual disability-strabismus syndrome" "nucleosome sequencing" + "skeletal muscle tissue" "BTB/POZ domain-containing protein KCTD1" "obsolete_hyperphalangy" "hearing loss" @@ -25793,9 +25796,9 @@ "pharyngeal arch artery 1" "langerin-negative, CD103-negative lymph node dendritic cell" "pool" - "collectin-12 measurement" "proteasome subunit alpha type-7" "phagocyte" + "collectin-12 measurement" "long QT syndrome 9" "BEST1-related vitreoretinochoroidopathy" "developmental disability" @@ -25895,11 +25898,11 @@ "spermatogenesis-associated protein 31D4 (human)" "sodium nitroprusside dihydrate measurement" "F4/80-negative adipose macrophage" - "Rare genetic neurological disorder" "X-11799 measurement" "ear" - "response to anti-tuberculosis drug" + "Rare genetic neurological disorder" "polyploid" + "response to anti-tuberculosis drug" "obsolete_Hereditary persistence of fetal hemoglobin - sickle cell disease" "obsolete_Tessier number 6 facial cleft" "CD40 ligand measurement" @@ -25913,8 +25916,8 @@ "2,3,7,8-tetrachlorodibenzodioxine" "C-glycosyltryptophan-to-succinylcarnitine ratio" "arthrogryposis-renal dysfunction-cholestasis syndrome" - "obsolete_keratoconjunctivitis sicca" "level of clathrin interactor 1 in blood serum" + "obsolete_keratoconjunctivitis sicca" "carotid body" "obsolete_somatic nervous system" "Disorder of cobalamin metabolism and transport" @@ -25945,8 +25948,8 @@ "level of BTB/POZ domain-containing protein KCTD2 in blood serum" "future internal carotid artery" "LysoPA 16:0 measurement" - "Amniotic bands" "bipolar I disorder" + "Amniotic bands" "Talipes cavus equinovarus" "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome" "level of Golgi-associated PDZ and coiled-coil motif-containing protein in blood" @@ -25956,10 +25959,10 @@ "serine protease HTRA1" "autoimmune thrombocytopenia" "Vitis sp. cv. 'Norton'" - "level of cone-rod homeobox protein in blood" - "obsolete response to paclitaxel" "Non-progressive cerebellar ataxia with intellectual disability" "obsolete_myostatin-related muscle hypertrophy" + "level of cone-rod homeobox protein in blood" + "obsolete response to paclitaxel" "cyclic nucleotide-gated olfactory channel" "Pleural Epithelioid Mesothelioma" "2P-Seq" @@ -26166,8 +26169,8 @@ "454 Sequencing" "microcephaly, seizures, and developmental delay" "neugrin" - "cystadenocarcinoma" "synaptic congenital myasthenic syndrome" + "cystadenocarcinoma" "SC" "aldosterone-producing adenoma with seizures and neurological abnormalities" "bile duct sarcoma" @@ -26211,8 +26214,8 @@ "level of beta-1,4-galactosyltransferase 7 in blood serum" "Rare genetic movement disorder" "lower limb deficiency-hypospadias syndrome" - "ataxin-3" "apolipoprotein E (isoform E4) measurement" + "ataxin-3" "Maternal teratogenic exposure" "acquired schizencephaly" "Fuji cells" @@ -26293,8 +26296,8 @@ "serine/threonine-protein kinase Chk1 measurement" "optic choroid disorder" "1-dihomo-linoleoylglycerol (20:2) measurement" - "Set1/Ash2 histone methyltransferase complex subunit ASH2" "glyburide" + "Set1/Ash2 histone methyltransferase complex subunit ASH2" "level of Ras/Rap GTPase-activating protein SynGAP in blood" "level of serine/threonine-protein kinase Nek7 in blood serum" "familial cold autoinflammatory syndrome 4" @@ -26416,8 +26419,8 @@ "obsolete_atrial septal defect, ostium secundum type" "Cucurbita maxima" "formylglycine-generating enzyme" - "sign or symptom concerning food and fluid intake" "level of alpha-N-acetylglucosaminidase in blood serum" + "sign or symptom concerning food and fluid intake" "obsolete_mosaic trisomy 20" "spontaneous mutation" "calcium uptake protein 2, mitochondrial" @@ -26464,8 +26467,8 @@ "obsolete_adipose tissue MMHCC" "biliary, renal, neurologic, and skeletal syndrome" "level of laminin subunit alpha-4 in blood serum" - "Ichthyosis - alopecia - eclabion - ectropion - intellectual disability" "Genetic gynecological tumor" + "Ichthyosis - alopecia - eclabion - ectropion - intellectual disability" "level of complement C1q-like protein 2 in blood serum" "vitelliform macular dystrophy 4" "nasal cavity carcinoma" @@ -26477,8 +26480,8 @@ "Wyburn-Mason syndrome" "Human T-lymphotropic virus 2 infectious disease" "elicited macrophage" - "level of 26,26,26,27,27,27-hexafluoro-25-hydroxy-16,17,23,23,24,24-hexadehydrovitamin D3 in blood serum" "response to voriconazole"@en + "level of 26,26,26,27,27,27-hexafluoro-25-hydroxy-16,17,23,23,24,24-hexadehydrovitamin D3 in blood serum" "White-Kernohan syndrome" "NC37" "cartilage intermediate layer protein 1 measurement" @@ -26486,8 +26489,8 @@ "Clostridium difficile 630" "Palmitic acid measurement" "polyunsaturated fatty acids to monounsaturated fatty acids ratio " - "uterine ligament adenosarcoma" "hydroxyproline measurement"@en + "uterine ligament adenosarcoma" "arterial calcification, generalized, of infancy, 2" "hypomyelinating leukodystrophy 5" "level of 11-beta-hydroxysteroid dehydrogenase 1 in blood" @@ -26510,12 +26513,12 @@ "RKOE6" "X-linked chondrodysplasia punctata" "dipeptidase 2 measurement" - "Progressive myoclonic epilepsy" "obsolete_familial multiple trichoepithelioma" - "menopausal or post-menopausal disease" + "Progressive myoclonic epilepsy" "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" "spastic paraparesis-deafness syndrome" "Myokymia" + "menopausal or post-menopausal disease" "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" "voltage-gated potassium channel subunit KCNA10" "Lodderomyces elongisporus NRRL YB-4239" @@ -26529,8 +26532,8 @@ "CD103-positive, langerin-positive lymph node dendritic cell" "pharyngeal arch artery 2" "necrotizing ulcerative gingivitis" - "COMM domain-containing protein 7 measurement" "pyruvate decarboxylase deficiency" + "COMM domain-containing protein 7 measurement" "laser capture microdissection" "long QT syndrome 10" "level of phosphatidylinositol 3-kinase regulatory subunit alpha in blood serum" @@ -26703,8 +26706,8 @@ "CINCA syndrome" "zyxin" "sarcosine dehydrogenase activity" - "NCI-N87" "geranylgeranyl pyrophosphate synthase" + "NCI-N87" "response to candesartan" "Pleural Mesothelioma" "level of egl nine homolog 1 in blood serum" @@ -26880,16 +26883,16 @@ "bleeding diathesis due to thromboxane synthesis deficiency" "ubiquitin-conjugating enzyme E2 D1" "S2R+" - "X-12329 measurement" "peroxisomal disease" "infectious disease with sepsis" "arsenic trichloride" "lung germ cell tumor" - "neuronopathy, distal hereditary motor, autosomal recessive 8" "obsolete cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" "neonatal severe primary hyperparathyroidism" - "Aplasia/Hypoplasia of the thumb" + "X-12329 measurement" + "neuronopathy, distal hereditary motor, autosomal recessive 8" "cone-rod dystrophy" + "Aplasia/Hypoplasia of the thumb" "centrin-2 measurement" "non polyA RNA" "level of heat shock protein beta-6 in blood serum" @@ -26897,9 +26900,9 @@ "coralliform cataract" "cystic renal cell carcinoma" "carbonic anhydrase 2" - "peritonitis" "islet cell adenomatosis" "rhabdomyosarcoma with mixed embryonal and alveolar features" + "peritonitis" "syntaxin-17" "putative protein N-methyltransferase FAM86B1" "level of coiled-coil domain-containing protein 149 in blood serum" @@ -26940,9 +26943,9 @@ "sulfotransferase 1A3" "obsolete genetic cardiac rhythm disease" "X-linked intellectual disability, Wilson type" - "rho GTPase-activating protein 1 measurement" "psychosis" "developmental and epileptic encephalopathy, 18" + "rho GTPase-activating protein 1 measurement" "small intestine Peyer's patch" "small glutamine-rich tetratricopeptide repeat-containing protein beta" "level of mesothelin-like protein in blood" @@ -26972,10 +26975,10 @@ "obsolete_Wiedemann-Rautenstrauch syndrome" "Cloverleaf skull - asphyxiating thoracic dysplasia" "thyroid cancer" + "Cerebral diseases of vascular origin with epilepsy" "ubiquitin carboxyl-terminal hydrolase 12" "tumor protein 63 measurement" "level of nitric oxide synthase, endothelial in blood" - "Cerebral diseases of vascular origin with epilepsy" "zinc-alpha-2-glycoprotein" "contractures - webbed neck - micrognathia - hypoplastic nipples syndrome" "prothoracic leg disc" @@ -27102,8 +27105,8 @@ "oocyte-secreted protein 2" "G124" "level of cell growth regulator with EF hand domain protein 1 in blood serum" - "Short 5th finger" "obsolete_Lelis syndrome" + "Short 5th finger" "interleukin 6 receptor subunit beta measurement" "nicotine dependence symptom count" "thioacetamide" @@ -27255,9 +27258,9 @@ "choroideremia" "Triose phosphate-isomerase deficiency" "obsolete_Say-Barber-Miller syndrome" - "poly [ADP-ribose] polymerase 1 measurement" "Generalized opacification of the cornea" "heparan sulfate glucosamine 3-O-sulfotransferase 1" + "poly [ADP-ribose] polymerase 1 measurement" "hereditary spastic paraplegia 2" "plastin-2" "hamartoma of skin appendage" @@ -27274,17 +27277,17 @@ "platelet-derived growth factor subunitAmeasurement" "obsolete_Legg-Calve-Perthes Disease" "5-nonyloxytryptamine oxalate" - "core binding factor acute myeloid leukemia" "obsolete_distal trisomy 20q" + "core binding factor acute myeloid leukemia" "mycobacterial infectious disease" "GM17207" "level of deoxycytidylate deaminase in blood" "ILSXISS25/TejJ" "level of glycine--tRNA ligase in blood serum" + "obsolete_radio-renal syndrome" "autosomal dominant slowed nerve conduction velocity" "Braxton-Hicks contractions" "Mitral regurgitation" - "obsolete_radio-renal syndrome" "Staphylococcus aureus subsp. aureus N315" "Saccharomyces kudriavzevii" "level of 11-hydroxy-arachidonic acid in blood plasma" @@ -27309,9 +27312,9 @@ "splenic infarction" "inactive C-alpha-formylglycine-generating enzyme 2" "protein PBMUCL2" + "abnormality of serum enzyme levels" "level of N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase in blood serum" "forkhead box protein J2" - "abnormality of serum enzyme levels" "level of double-stranded RNA-binding protein Staufen homolog 1 in blood serum" "LEM domain-containing protein 1" "level of transmembrane protein 132D in blood serum" @@ -27411,8 +27414,8 @@ "leptomeninx" "fallopian tube transitional cell carcinoma" "obsolete_tonsil" - "postmenopausal osteoporosis" "hyperinsulinism due to INSR deficiency" + "postmenopausal osteoporosis" "idiopathic type 1 diabetes" "level of endosialin in blood" "obsolete_periodic paralysis with later-onset distal motor neuropathy" @@ -27421,8 +27424,8 @@ "colorectal signet ring cell carcinoma" "malignant endocrine neoplasm" "cerebral sarcoidosis" - "acute myeloid leukemia, t(16;21)(p11;q22)" "level of ragulator complex protein LAMTOR2 in blood serum" + "acute myeloid leukemia, t(16;21)(p11;q22)" "cerebellar malformation" "triggering receptor expressed on myeloid cells 1 measurement" "Tae-Yang" @@ -27451,14 +27454,14 @@ "level of isthmin-1 in blood serum" "intracellular membraneless organelle" "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15" - "asymptomatic neurocognitive impairment" "musculoskeletal embryonic nuclear protein 1" - "obsolete_pyruvate dehydrogenase E3 deficiency" + "asymptomatic neurocognitive impairment" "obsolete_Joubert syndrome and related disorders" "vacuolar protein-sorting-associated protein 25" - "Radiation Pneumonitis" "aurora kinase A measurement" + "Radiation Pneumonitis" "Plasmodium falciparum antigen IgG measurement" + "obsolete_pyruvate dehydrogenase E3 deficiency" "4-androsten-3beta,17beta-diol disulfate 2 measurement" "obsolete_I-YSL" "level of Ras-related protein Rab-6B in blood serum" @@ -27495,12 +27498,12 @@ "obsolete_growth delay due to insulin-like growth factor type 1 deficiency" "Disorder of gamma-aminobutyric acid metabolism" "glycolithocholate measurement" - "congenital diarrhea 5 with tufting enteropathy" "HG03064" + "congenital diarrhea 5 with tufting enteropathy" "N-nitrosodiethylamine" - "U6 snRNA phosphodiesterase measurement" "age at breast cancer diagnosis" "succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial" + "U6 snRNA phosphodiesterase measurement" "picolinoylglycine measurement" "level of multimerin-2 in blood serum" "level of vacuolar protein-sorting-associated protein 25 in blood serum" @@ -27522,11 +27525,11 @@ "lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial" "glycoprotein endo-alpha-1,2-mannosidase measurement" "cataract 34 multiple types" + "Leprechaunism" "Periorbital hyperpigmentation" "obsolete_Atkin-Flaitz syndrome" "maternal riboflavin deficiency" "syndromic X-linked intellectual disability 34" - "Leprechaunism" "mucinous carcinoma" "Standard Flowgram Format (SFF)" "obsolete_mammary gland" @@ -27543,15 +27546,15 @@ "eye color" "benign connective and soft tissue neoplasm" "level of transmembrane emp24 domain-containing protein 9 in blood serum" + "obsolete_Charcot-Marie-Tooth disease" "simian immunodeficiency virus infection" "blood copper measurement" "Brainstem dysplasia" "Lymphangiosarcoma" - "obsolete_Charcot-Marie-Tooth disease" "E3 ubiquitin-protein ligase HECW1 measurement" - "obsolete_atresia of small intestine" "level of target of Myb1 membrane trafficking protein in blood serum" "glucose-6-phosphatase activity" + "obsolete_atresia of small intestine" "actin filament-associated protein 1-like 1" "indoleamine 2,3-dioxygenase 1" "inherited mitral valve disease" @@ -27607,12 +27610,12 @@ "level of UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit in blood serum" "Neisseria lactamica" "ribonucleoside biosynthetic process" - "obsolete_Huntington disease-like 2" "systemic primary carnitine deficiency disease" "conventional fibrosarcoma" "carboxypeptidase N subunit 2" "drug-induced mental disorder" "SUM44PE" + "obsolete_Huntington disease-like 2" "aortic valve insufficiency" "acetyllysine measurement" "disorder of plasmalogens biosynthesis" @@ -27625,8 +27628,8 @@ "cerebral artery stenosis" "protein FAM118A" "obsolete_presumptive neural plate" - "obsolete_genetic hyperparathyroidism" "cerebellum growth measurement" + "obsolete_genetic hyperparathyroidism" "muscular dystrophy-white matter spongiosis syndrome" "obstructive jaundice" "obsolete_porokeratotic eccrine ostial and dermal duct nevus" @@ -27656,8 +27659,8 @@ "level of cytosolic 5'-nucleotidase 1A in blood" "X-23636 measurement" "aseptic loosening" - "spontaneous abortion" "brain stem medulloblastoma" + "spontaneous abortion" "anus leiomyoma" "ligation-mediated chromosome conformation capture assay" "d-dimer measurement" @@ -27686,8 +27689,8 @@ "spondyloepiphyseal dysplasia tarda, autosomal recessive" "sphingomyelin 38:3" "mandible" - "3-Indolepropionic acid to Hypoxanthine ratio" "cognitive domain measurement" + "3-Indolepropionic acid to Hypoxanthine ratio" "matrix metalloproteinase 7 measurement"@en "familial isolated clinodactyly of fingers" "CA4 field of hippocampus" @@ -27788,10 +27791,10 @@ "obsolete_cleidorhizomelic syndrome" "acute graft vs. host disease" "gene expression measurement" + "X-linked intellectual disability, Hedera type" "interleukin-7 measurement" "colorectal Kaposi sarcoma" "malaria" - "X-linked intellectual disability, Hedera type" "protozoan seropositivity" "Schistosomiasis mansoni" "bone development disease" @@ -27832,8 +27835,8 @@ "obsolete_ventral imaginal precursor" "nicotine withdrawal symptom count" "Mus spretus" - "palmar part of manus" "neurodegeneration with brain iron accumulation 4" + "palmar part of manus" "level of nucleophosmin in blood" "cystathionine beta-synthase" "agarose" @@ -27880,11 +27883,11 @@ "C3a anaphylatoxin measurement" "transferrin saturation measurement" "human papillomavirus-related squamous cell carcinoma" + "1-arachidonoyl-GPC (20:4n6) measurement" "dyspepsia" "amphotericin B" - "1-arachidonoyl-GPC (20:4n6) measurement" - "level of piRNA biogenesis protein EXD1 in blood serum" "lysophosphatidylcholine 22:1 measurement" + "level of piRNA biogenesis protein EXD1 in blood serum" "Robertsonian translocation" "neurodevelopmental disorder with language delay and variable cognitive abnormalities" "Trypanosoma brucei gambiense" @@ -27919,8 +27922,8 @@ "high-grade astrocytoma with piloid features" "cataract - microcornea syndrome" "presumptive rhombomere 3" - "inflammatory macrophage" "p phenotype"@en + "inflammatory macrophage" "level of interferon regulatory factor 8 in blood serum" "microfibrillar-associated protein 5" "congenital absence of both lower leg and foot, unilateral" @@ -27948,8 +27951,8 @@ "dorsum" "Agrobacterium tumefaciens str. C58" "neonatal erythema toxicum" - "level of N-acetylmuramoyl-L-alanine amidase in blood" "uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease" + "level of N-acetylmuramoyl-L-alanine amidase in blood" "Bowen-Conradi syndrome" "HCC70" "HUES49" @@ -28053,16 +28056,16 @@ "obsolete syndromic corneal dystrophy" "ovarian monodermal teratoma" "mortality" - "wellbeing measurement" "securin" + "wellbeing measurement" "ESHyb" "apolipoprotein A 1 measurement" "level of colipase in blood serum" "obsolete_atypical hemolytic-uremic syndrome with C3 anomaly" - "S462" "Thermosynechococcus elongatus BP-1" "neoplasm of myocardium" "Macular hypopigmented whorls, streaks, and patches" + "S462" "frontotemporal dementia" "Acute infantile liver failure-multisystemic involvement syndrome" "Hirschsprung disease - nail hypoplasia - dysmorphism" @@ -28077,14 +28080,14 @@ "X-linked intellectual disability-cerebellar hypoplasia syndrome" "electric current unit" "interleukin-17C measurement" - "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" "apocrine adenocarcinoma" "GM17111" "endoplasmic reticulum membrane sensor NFE2L1" "obsolete_root hair" + "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" "membrane protein FAM174A" - "juvenile vascular leaf" "embryonic day 18.5" + "juvenile vascular leaf" "proteasome subunit beta type-1" "lysosomal transport" "primary prostate urothelial carcinoma" @@ -28118,8 +28121,8 @@ "level of phosphatidate phosphatase LPIN1 in blood serum" "level of eukaryotic translation initiation factor 4E in blood serum" "orofacial cleft 1" - "dihomo-gamma-linoleic acid measurement" "malonyl-CoA decarboxylase, mitochondrial measurement" + "dihomo-gamma-linoleic acid measurement" "hypolipoproteinemia" "Aggregatibacter actinomycetemcomitans" "sulfite oxidase activity" @@ -28153,15 +28156,15 @@ "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" "extra-adrenal sympathetic paraganglioma" "BICR 78" - "phospholipids in very large HDL measurement " "Saccharomyces mikatae" + "phospholipids in very large HDL measurement " "obsolete_Autosomal recessive axonal Charcot-Marie-Tooth disease type 2" "Gardner syndrome" "GM13977" "cholesterol:total lipids ratio"@en + "obsolete_DPM3-CDG" "krueppel-like factor 9" "GM17814" - "obsolete_DPM3-CDG" "tetrasaccharide (glycogen, stachyose) measurement" "arylamine N-acetyltransferase 1 measurement" "focal segmental glomerulosclerosis 9" @@ -28193,8 +28196,8 @@ "EB2" "Frontal upsweep of hair" "level of group XIIB secretory phospholipase A2-like protein in blood serum" - "xanthine dehydrogenase/oxidase" "level of netrin receptor UNC5A in blood serum" + "xanthine dehydrogenase/oxidase" "Abnormality of the skeletal system" "beta-defensin 110 measurement" "vesicle-associated membrane protein 8" @@ -28238,9 +28241,9 @@ "delta-like protein 3" "Infectious encephalitis" "high grade ovarian serous adenocarcinoma" + "colonic pseudo-obstruction" "arthrogryposis multiplex congenita" "leukotriene a-4 hydrolase measurement" - "colonic pseudo-obstruction" "pleural empyema" "megalocornea" "progressive external ophthalmoplegia" @@ -28276,8 +28279,8 @@ "endonuclease 8-like 2" "blood chromium measurement" "Chédiak-Higashi syndrome" - "Congenital finger flexion contractures" "level of bleomycin hydrolase in blood" + "Congenital finger flexion contractures" "level of TOM1-like protein 1 in blood serum" "level of protein delta homolog 1 in blood serum" "actin filament-associated protein 1-like 2" @@ -28398,8 +28401,8 @@ "X-17371 measurement" "obsolete_Tel Hashomer camptodactyly syndrome" "vesicular integral-membrane protein VIP36 measurement" - "obsolete_combined immunodeficiency due to MALT1 deficiency" "intestine" + "obsolete_combined immunodeficiency due to MALT1 deficiency" "Tomato spotted wilt virus" "Alnus glutinosa" "phosphatidylcholine 38:2 measurement"@en @@ -28489,11 +28492,11 @@ "intestinal epithelium" "photokeratitis" "interleukin-9 measurement" + "ocular hypertension" "WM-35"@en "X-12407 measurement" "melorheostosis with osteopoikilosis" "neurodevelopmental, jaw, eye, and digital syndrome" - "ocular hypertension" "obsolete uniparental disomy of chromosome X" "fundus of stomach" "uveal coloboma-cleft lip and palate-intellectual disability" @@ -28606,10 +28609,10 @@ "immunodeficiency, common variable, 7" "serpin B3" "atypical autism" + "pyelonephritis" "urinary sodium to potassium ratio" "carcinoembryonic antigen-related cell adhesion molecule 6" "Cockayne syndrome type 1" - "pyelonephritis" "Meningioangiomatosis" "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2" "L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase" @@ -28715,9 +28718,9 @@ "gene list"@en "gene list" "mosaic trisomy 17" + "hypersensitivity reaction disease" "maximum cigarettes per day measurement" "level of integrin beta-7 in blood serum" - "hypersensitivity reaction disease" "obsolete_distal trisomy 22q" "anal canal Paget disease" "ILSXISS41/TejJ" @@ -28793,7 +28796,6 @@ "BTB/POZ domain-containing protein KCTD5 measurement" "obsolete_root nodule" "medical procedure" - "C38:4 phosphatidylethanolamine measurement" "Charcot-Marie-Tooth disease, demyelinating, IIA 1I" "presumptive rhombomere 4" "right ventricular diastolic volume to left ventricular diastolic volume ratio"@en @@ -28801,6 +28803,7 @@ "neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies" "zinc finger protein 410" "synthetic data"@en + "C38:4 phosphatidylethanolamine measurement" "E3 ubiquitin-protein ligase DTX1" "ovarian dysgenesis 9" "EB1" @@ -28826,8 +28829,8 @@ "SGC-7901" "phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein" "obsolete rare genetic refraction anomaly" - "obsolete_abdominal wall" "hereditary spastic paraplegia" + "obsolete_abdominal wall" "LIM domain-binding protein 1" "partial deletion of the long arm of chromosome 13" "Scapulohumeral muscular dystrophy" @@ -28848,10 +28851,10 @@ "level of protein FAM151A in blood serum" "procathepsin L" "acute myeloid leukemia, monoallelic CEBPA gene mutation" + "Blepharoptosis - myopia - ectopia lentis" "Dynein arm defect of respiratory motile cilia" "cerebral malformation" "neisseria meningitidis seropositivity" - "Blepharoptosis - myopia - ectopia lentis" "obsolete_digestive duplication" "X-21742 measurement" "Tae-Eum" @@ -28873,10 +28876,10 @@ "breast intraductal proliferative lesion" "protein LSM12" "hyperostosis cranialis interna" + "obsolete_SCARF syndrome" "congenital diarrhea 7 with exudative enteropathy" "hallux varus-preaxial polysyndactyly syndrome" "fibrinogen alpha chain" - "obsolete_SCARF syndrome" "poly(A) polymerase gamma measurement" "level of collagen alpha-1(III) chain in blood" "obsolete_Alexander disease type II" @@ -29002,9 +29005,9 @@ "serine protease HTRA2, mitochondrial measurement" "Polar Spongioblastoma" "obsolete_Stüve-Wiedemann syndrome" - "lactic acid measurement" "latitude coordinate measurement datum"@en "seedhead" + "lactic acid measurement" "megalencephalic leukoencephalopathy with subcortical cysts" "thalamic disorder" "obsolete_Crigler-Najjar syndrome type 2" @@ -29115,9 +29118,9 @@ "obsolete_ocular albinism" "hypertrichotic osteochondrodysplasia Cantu type" "BJABK3" - "glycoprotein Xg measurement" "level of acid phosphatase type 7 in blood serum" "level of DNA repair endonuclease XPF in blood serum" + "glycoprotein Xg measurement" "autosomal recessive optic atrophy, OPA7 type" "Rare intellectual disability without developmental anomaly" "intracranial hemorrhage" @@ -29131,14 +29134,14 @@ "Venezuelan equine encephalitis" "Birt-Hogg-Dubé syndrome" "level of IST1 homolog in blood serum" + "obsolete_autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures" "childhood brain germinoma" "obsolete_loose anagen syndrome" "Elevated circulating 7-dehydrocholesterol concentration" "Bombyx mori" - "obsolete_autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures" + "obsolete_duodenal atresia" "protein 4.1" "level of mitochondrial-processing peptidase subunit alpha in blood serum" - "obsolete_duodenal atresia" "very long-chain saturated fatty acid measurement" "cortisone measurement" "posterior lateral line nerve" @@ -29165,8 +29168,8 @@ "TRAP-Seq" "schwannomatosis" "level of surfeit locus protein 1 in blood serum" - "Rare hereditary metabolic disease with peripheral neuropathy" "MAGUK p55 subfamily member 2" + "Rare hereditary metabolic disease with peripheral neuropathy" "EP300-interacting inhibitor of differentiation 3" "protein S100-P" "level of protein YIPF6 in blood serum" @@ -29181,14 +29184,14 @@ "partial duplication of the short arm of chromosome 1" "root hair" "NCI-H1623" - "whole plant fruit ripening complete stage" "charged multivesicular body protein 3 measurement" - "PC-3M cell" + "whole plant fruit ripening complete stage" + "obsolete_GMS syndrome" "callous character" "fetal thymocyte" + "PC-3M cell" "Tauroursodeoxycholic acid measurement" "infantile liver failure" - "obsolete_GMS syndrome" "Propionibacterium acnes" "cas scaffolding protein family member 4 measurement" "ribosomal protein S6 kinase alpha-6 measurement" @@ -29227,9 +29230,9 @@ "obsolete_X-linked intellectual disability, Stevenson type" "Abnormality of taste sensation" "left cardiac atrium" + "porphobilinogen deaminase measurement" "isolated microphthalmia 4" "insect head capsule" - "porphobilinogen deaminase measurement" "tricuspid atresia" "level of sorting nexin-1 in blood serum" "L-lactate dehydrogenase C chain" @@ -29286,9 +29289,9 @@ "vagus nerve" "level of BAG family molecular chaperone regulator 1 in blood serum" "Metazoa" + "X-11905 measurement" "obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene" "lysophosphatidylethanolamine 18:2" - "X-11905 measurement" "brachyolmia type 1, toledo type" "blood 2,4-di-tert-butylphenol measurement" "biotic plant treatment" @@ -29349,8 +29352,8 @@ "benign neoplasm of large intestine" "obsolete_Otopalatodigital syndrome" "serpin B4" - "frailty measurement" "digestive system melanoma" + "frailty measurement" "GM17846" "carcinoembryonic antigen-related cell adhesion molecule 8" "nuclear factor erythroid 2-related factor 1 measurement" @@ -29546,11 +29549,11 @@ "obsolete_root cap" "Lagopus lagopus scotica" "large adipocyte" - "heat shock response"@en - "typhus" "presumptive rhombomere 5" "gastrointestinal tract (lamina propria) macrophage" "cholesteryl stearate" + "typhus" + "heat shock response"@en "Lessel-Kubisch syndrome" "acheiria, unilateral" "urinary 6‑hydroxymelatonin sulfate to creatinine ratio"@en @@ -29748,8 +29751,8 @@ "tubulin polymerization-promoting protein family member 2 measurement" "seizure protein 6" "suprabasin measurement" - "Ehlers-Danlos syndrome, periodontal type 2" "WRL-68" + "Ehlers-Danlos syndrome, periodontal type 2" "myopericytoma" "neurexophilin-2" "autosomal recessive spastic paraplegia type 71" @@ -29763,10 +29766,10 @@ "level of protein FAM241B in blood serum" "propionic acid" "drug role" - "obsolete_familial hyperaldosteronism type II" "mannosyl-oligosaccharide 1,2-alpha-mannosidase IA measurement" "PC-6" "Desbuquois syndrome" + "obsolete_familial hyperaldosteronism type II" "obsolete_left ventricular noncompaction" "Poorly Differentiated Thyroid Gland Carcinoma" "endothelial cell of coronary artery" @@ -29799,16 +29802,16 @@ "ring chromosome 7" "free cholesterol:total lipids ratio"@en "triacylglycerol 46:0 measurement"@en - "age of onset of anorexia nervosa" "obsolete_dyssegmental dysplasia, Rolland-Desbuquois type" + "age of onset of anorexia nervosa" "aspartyl/asparaginyl beta-hydroxylase measurement" "vasculitis" "Thickened earlobes - conductive deafness" "level of ankyrin repeat and MYND domain-containing protein 2 in blood" "level of myelin-oligodendrocyte glycoprotein in blood" "alpha-2-HS-glycoprotein measurement" - "teneurin-3" "level of ryanodine receptor 1 in blood" + "teneurin-3" "diaphragmatic hernia 3" "primary polyarteritis nodosa" "family history of breast cancer" @@ -29820,8 +29823,8 @@ "reticulocyte count" "obsolete_monosomy 21" "partial segmental duplication" - "Rosa lucieae" "Polysomy of X chromosome" + "Rosa lucieae" "tripartite motif-containing protein 26" "curettage"@en "androsterone sulfate measurement" @@ -29852,8 +29855,8 @@ "phosphatidylcholine 38:4 measurement"@en "orofaciodigital syndrome X" "mouth floor" - "undefined ancestry population" "obsolete_lateral root" + "undefined ancestry population" "gonadal germ cell tumor" "occipital lateral line neuromast" "nucleotide exchange factor SIL1" @@ -29944,10 +29947,10 @@ "obsolete_hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency" "Multinodular goiter - cystic kidney - polydactyly" "casein kinase I isoform delta measurement" - "Jacobsen syndrome" + "obsolete_primary qualitative or quantitative defects of alpha-dystroglycan" "pericarp" + "Jacobsen syndrome" "GM17213" - "obsolete_primary qualitative or quantitative defects of alpha-dystroglycan" "ear infection" "level of pleckstrin homology domain-containing family A member 7 in blood serum" "germ cell" @@ -30010,8 +30013,8 @@ "magnesium transporter NIPA4" "obsolete_adaxial cells" "X-11440-to-4-androsten-3beta,17beta-diol disulfate 2 ratio" - "recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome" "Cervical Small Cell Carcinoma" + "recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome" "BL41K3" "level of papilin in blood serum" "level of erlin-1 in blood serum" @@ -30067,8 +30070,8 @@ "IgG4-related disease" "pseudohyperaldosteronism type 2" "coagulation factor IXAB measurement" - "N-methyl-6-pyridone-3-carboxamide" "protein LDOC1" + "N-methyl-6-pyridone-3-carboxamide" "proteasome subunit beta type-4" "partial duplication of chromosome 1" "femoral neuropathy" @@ -30115,9 +30118,9 @@ "level of lysophosphatidic acid phosphatase type 6 in blood" "1-oleoylglycerol" "Gaucher disease type 1" + "GM17776" "Benign essential blepharospasm" "Shaken Baby Syndrome" - "GM17776" "Crohn ileitis" "kuru, susceptibility to" "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency" @@ -30227,8 +30230,8 @@ "Metanephric Adenoma" "presumptive rhombomere 6" "facial paralysis" - "C38:6 phosphatidylcholine plasmalogen measurement" "6-deoxotyphasterol" + "C38:6 phosphatidylcholine plasmalogen measurement" "X-linked intellectual disability-ataxia-apraxia syndrome" "serine/threonine-protein kinase receptor R3 measurement" "hepatitis B virus, susceptibility to" @@ -30275,8 +30278,8 @@ "obsolete_longitudinal visceral muscle primordium" "family history of Alzheimer’s disease" "parabacteroides seropositivity" - "NH4_C46:3 TAG measurement" "mitochondrial tumor suppressor 1" + "NH4_C46:3 TAG measurement" "Rho-related GTP-binding protein RhoB" "calcium measurement" "level of UDP-glucuronosyltransferase 2A1 in blood serum" @@ -30295,8 +30298,8 @@ "39S ribosomal protein L14, mitochondrial measurement" "level of ribosome-recycling factor, mitochondrial in blood serum" "combined small cell lung carcinoma" - "X-linked dominant disease" "sinusitis" + "X-linked dominant disease" "leukocyte immunoglobulin-like receptor subfamily A member 4" "level of PC4 and SFRS1-interacting protein in blood" "Herpes simplex virus 2 seropositivity" @@ -30338,9 +30341,9 @@ "betacellulin measurement" "obsolete_autosomal dominant hereditary axonal motor and sensory neuropathy" "obsolete_adult-onset nemaline myopathy" + "Rare genetic endocrine disease" "hypomethylated partial restriction digest" "X-18887 measurement" - "Rare genetic endocrine disease" "lysophosphatidylethanolamine 20:4" "right internal carotid artery" "autosomal recessive spinocerebellar ataxia 2" @@ -30357,8 +30360,8 @@ "TYK-nu.CP-r" "Finnish type amyloidosis" "prostate cancer cell line" - "Galloway-Mowat syndrome 10" "Endometrial Hyperplasia without Atypia" + "Galloway-Mowat syndrome 10" "GM17262" "demyelinating polyneuropathy" "dense deposit disease" @@ -30439,8 +30442,8 @@ "Lactobacillus casei" "obsolete_hirsutism-skeletal dysplasia-intellectual disability syndrome" "level of dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial in blood serum" - "wheezing" "X-12544 measurement" + "wheezing" "prohemocyte (sensu Nematoda and Protostomia)" "acute myeloid leukemia with multilineage dysplasia" "level of Phosphatidylcholine (16:0_20:1) in blood serum" @@ -30457,8 +30460,8 @@ "listeriosis" "Oligodontia - cancer predisposition syndrome" "Short long bone" - "tubulin--tyrosine ligase measurement" "basal-like breast carcinoma" + "tubulin--tyrosine ligase measurement" "C2BBe1" "X-21796 measurement" "fraction D precursor B cell" @@ -30471,8 +30474,8 @@ "level of Phosphatidylcholine (O-16:1_18:1) in blood serum" "Moyamoya disease with early-onset achalasia" "depressive disorder" - "level of prosaposin in blood" "PC-7" + "level of prosaposin in blood" "level of mortality factor 4-like protein 1 in blood" "calyx development stage" "level of protein S100-A3 in blood" @@ -30570,8 +30573,8 @@ "J-774 cell" "nickel molecular entity" "Micromelia" - "response to phenylephrine" "Stenosis of the external auditory canal" + "response to phenylephrine" "level of keratin, type I cytoskeletal 19 in blood" "O-tiglylcarnitine" "Abnormality of mouth size" @@ -30588,8 +30591,8 @@ "Pai syndrome" "Frank-Ter Haar syndrome" "AP-4 complex subunit mu-1" - "BRIC-seq" "TruePrime" + "BRIC-seq" "Pyogenic arthritis - pyoderma gangrenosum - acne" "level of synaptic vesicle glycoprotein 2A in blood serum" "Platelet-activating factor acetylhydrolase deficiency" @@ -30670,8 +30673,8 @@ "level of nuclear receptor 2C2-associated protein in blood serum" "combined generalized and focal epilepsy" "kidney disease" - "cochlin" "Branchio-otic syndrome" + "cochlin" "obsolete_Muckle-Wells syndrome" "geographic tongue" "BALB/cAnN" @@ -30688,10 +30691,10 @@ "follistatin-related protein 5" "polycystin-1" "squamous cell lung carcinoma" - "ubiquitin-like protein ISG15 measurement" "pseudohypoaldosteronism, type IB2, autosomal recessive" - "blood barium measurement"@en + "ubiquitin-like protein ISG15 measurement" "shoulder and thorax deformity-congenital heart disease syndrome" + "blood barium measurement"@en "Amelia" "pituitary adenocarcinoma" "sympathetic nervous system" @@ -30834,8 +30837,8 @@ "chymotrypsin-like elastase family member 2A measurement" "Truncal dystonia" "CROAP5" - "obsolete_mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency" "level of alpha-1,4-N-acetylglucosaminyltransferase in blood serum" + "obsolete_mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency" "Cataract associated with a metabolic disease" "PAT-Seq" "dynein light chain Tctex-type 1" @@ -30958,15 +30961,15 @@ "metabolic myopathy due to lactate transporter defect" "obsolete_Char syndrome" "follicular lymphoma" - "obsolete_disorder of catecholamine synthesis" "dietary fiber intake measurement" + "obsolete_disorder of catecholamine synthesis" "Autosomal dominant optic atrophy and late-onset deafness" "obsolete_swim bladder" + "synaptotagmin-5 measurement" "39S ribosomal protein L34, mitochondrial measurement" "Clark level" "atrial septal defect 8" "urinary bladder villous adenoma" - "synaptotagmin-5 measurement" "ethmoid sinus squamous cell carcinoma" "T-complex protein 11-like protein 1" "pancreatic acinar cell cystadenocarcinoma" @@ -31092,9 +31095,9 @@ "hypokalemic periodic paralysis, type 1" "GM12044" "obsolete_taste" - "adult glioblastoma" "MM1" "DNA-3-methyladenine glycosylase" + "adult glioblastoma" "deafness, autosomal dominant 39, with dentinogenesis imperfecta 1" "sRNA-Seq" "long-chain fatty acid transport protein 2" @@ -31173,8 +31176,8 @@ "lip carcinoma in situ" "corolla development stage" "DNA repair defect other than combined T-cell and B-cell immunodeficiencies" - "Tubular renal disease - cardiomyopathy" "cyclin-dependent kinase inhibitor 1" + "Tubular renal disease - cardiomyopathy" "Weissella confusa" "autosomal recessive ocular albinism" "Disorder of amino acid absorption and transport" @@ -31204,8 +31207,8 @@ "myopathy with abnormal lipid metabolism" "X-21803 measurement" "CAL-12T" - "CD22-positive, CD38-low small pre-B cell" "intellectual disability, autosomal dominant 58" + "CD22-positive, CD38-low small pre-B cell" "Radial deficiency - tibial hypoplasia" "Mycobacterium avium subsp. paratuberculosis" "B-cell scaffold protein with ankyrin repeats" @@ -31256,7 +31259,6 @@ "level of carcinoembryonic antigen-related cell adhesion molecule 3 in blood serum" "iron(III) dicitrate(3-)" "level of complement component C8 beta chain in blood" - "Genetic cardiac tumor" "level of dual specificity protein phosphatase 15 in blood serum" "natural cytotoxicity triggering receptor 3 measurement" "congenital toxoplasmosis" @@ -31264,11 +31266,12 @@ "isolated delta-storage pool disease" "Pulmonary lymphangiectasia" "Lafora disease" + "Genetic cardiac tumor" "intracranial hypertension" "cardiac rhythm disease" "20q11.2 microduplication syndrome" - "pineal complex" "leukocyte immunoglobulin-like receptor subfamily A member 5 measurement" + "pineal complex" "butyrylglycine measurement" "tonsillitis" "trichotillomania" @@ -31430,8 +31433,8 @@ "reticulum cell sarcoma" "severe combined immunodeficiency due to CARD11 deficiency" "experiment accession" - "trait in response to apixaban" "prostaglandin F2 receptor negative regulator measurement" + "trait in response to apixaban" "X-23657 measurement" "postmenopausal" "Staphylococcus aureus subsp. aureus COL" @@ -31446,10 +31449,10 @@ "level of probable E3 ubiquitin-protein ligase HERC4 in blood serum" "BT474" "level of ermin in blood serum" - "stem Cell Growth Factor-beta measurement" "myoclonic-astatic epilepsy" "leucine-rich repeat serine/threonine-protein kinase 2 measurement" "mirror polydactyly-vertebral segmentation-limbs defects syndrome" + "stem Cell Growth Factor-beta measurement" "appetite-regulating hormone measurement" "renovascular hypertension" "R11" @@ -31471,8 +31474,8 @@ "Lewy body dementia measurement" "GM12234" "congenital pseudoarthrosis of the ulna" - "eukaryotic translation initiation factor 1A, X-chromosomal measurement" "level of cytosol aminopeptidase in blood" + "eukaryotic translation initiation factor 1A, X-chromosomal measurement" "diacylglycerol 34:0 measurement" "Abnormality of mouth shape" "concentration of medium LDL particles measurement" @@ -31684,8 +31687,8 @@ "friendship satisfaction measurement" "partial duplication of chromosome 3" "deep cell layer (gastrulation)" - "Joint stiffness" "fibromuscular dysplasia" + "Joint stiffness" "level of Phosphatidylcholine (16:1_18:2) in blood serum" "chromosome 15q11.2 deletion syndrome" "alpha-(1,3)-fucosyltransferase 11" @@ -31721,8 +31724,8 @@ "Immunodeficiency syndrome with autoimmunity" "level of cAMP-specific 3',5'-cyclic phosphodiesterase 4C in blood serum" "NCI-H2110" - "Rare genetic parathyroid disease and phosphocalcic metabolism disorder" "1-oleoyl-sn-glycero-3-phosphoethanolamine" + "Rare genetic parathyroid disease and phosphocalcic metabolism disorder" "small ribosomal subunit protein eS25" "metaxin-2" "Rho-related GTP-binding protein RhoD" @@ -31740,12 +31743,12 @@ "Marcus-Gunn syndrome" "level of tubulinyl-Tyr carboxypeptidase 1 in blood" "obsolete_oculomaxillofacial dysostosis" - "hyperpigmentation of the skin" "level of lipocalin-like 1 protein in blood serum" + "hyperpigmentation of the skin" "39S ribosomal protein L52, mitochondrial measurement" - "level of inositol 1,4,5-triphosphate receptor associated 1 in blood serum" "Abnormality of the thyroid gland" "beta-1,4-galactosyltransferase 5" + "level of inositol 1,4,5-triphosphate receptor associated 1 in blood serum" "obsolete_major depressive disorder" "HG02943" "Tay-Sachs disease, B variant, adult form" @@ -31829,8 +31832,8 @@ "cholesterol" "level of glutaredoxin-1 in blood" "protein sel-1 homolog 2 measurement" - "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder" "obsolete_combined malonic and methylmalonic acidemia" + "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder" "large cell neuroendocrine carcinoma" "Autosomal dominant Charcot-Marie-Tooth disease type 2D" "craniofacial dyssynostosis" @@ -31838,9 +31841,9 @@ "I-urobilinogen measurement" "isthmus cingulate cortex volume measurement"@en "sperm-associated antigen 11A measurement" - "obsolete_Salt-and-pepper syndrome" "2-ketoisovaleric acid measurement" "level of ADP-ribosylation factor 5 in blood serum" + "obsolete_Salt-and-pepper syndrome" "Mitochondrial myopathy - lactic acidosis - deafness" "aspartate aminotransferase measurement" "C-type lectin domain family 2 member A measurement" @@ -31974,12 +31977,12 @@ "gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy" "external ear squamous cell carcinoma" "nicotinate ribonucleoside measurement" - "4-hydroxy-3-methylacetophenone measurement" "hippocampus fimbria volume" + "4-hydroxy-3-methylacetophenone measurement" "proline-rich acidic protein 1" "progressive familial intrahepatic cholestasis type 3" - "nervousness" "ovarian dysfunction" + "nervousness" "Helicobacter pylori 26695" "level of ataxin-10 in blood" "Abnormal foot morphology" @@ -32042,10 +32045,10 @@ "level of serine dehydratase-like in blood serum" "X-06267 measurement" "Spastic paraplegia - epilepsy - intellectual disability" - "rectal disease" "ovarian mucinous adenocarcinoma" "leukodystrophy, hypomyelinating, 20" "CS57825" + "rectal disease" "Abnormal muscle fiber dystrophin expression" "BruChase-Seq" "17alpha-hydroxypregnanolone glucuronide measurement" @@ -32090,9 +32093,9 @@ "Salmonella enterica subsp. enterica serovar Senftenberg" "3p- syndrome" "thiostrepton" - "3-Indolepropionic acid to Choline ratio" "level of protachykinin-1 in blood serum" "2-hydroxyhexanoate" + "3-Indolepropionic acid to Choline ratio" "Clinodactyly of the 3rd toe" "neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum" "obsolete_brain vasculature" @@ -32140,8 +32143,8 @@ "peptide measurement"@en "KMS-34" "Physcomitrella patens" - "nitrofurantoin" "obsolete_humero-radial synostosis, bilateral" + "nitrofurantoin" "obsolete_acrofacial dysostosis, Catania type" "Abnormal skull morphology" "Desulfovibrio halophilus" @@ -32229,8 +32232,8 @@ "aplasia cutis congenita-intestinal lymphangiectasia syndrome" "GM17756" "Heavy Chain Disease" - "obsolete_lateral line ganglion" "cardioacrofacial dysplasia 2" + "obsolete_lateral line ganglion" "onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome" "vacuolar protein sorting-associated protein 4B measurement" "familial medullary thyroid carcinoma" @@ -32238,8 +32241,8 @@ "adhesion G protein-coupled receptor F5" "Bacillus subtilis" "heart conduction disease" - "cystine urolithiasis"@en "Pedriza ecotype" + "cystine urolithiasis"@en "glycochenodeoxycholate measurement"@en "congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome" "obsolete_liver (Bos taurus)" @@ -32350,10 +32353,10 @@ "Dysarthria" "response to stimulus" "hystidil-tRNA synthetase autoantibody measurement" + "inflammatory disease" "level of pregnancy-specific beta-1-glycoprotein 6 in blood serum" "17-alpha-hydroxylase/17,20-lyase deficiency, combined complete" "level of glyoxalase domain-containing protein 4 in blood" - "inflammatory disease" "CD160 molecule" "F-box/LRR-repeat protein 5" "level of ribose-phosphate pyrophosphokinase 1 in blood serum" @@ -32523,9 +32526,9 @@ "obsolete_seminal vesicle" "obsolete_qualitative or quantitative defects of fukutin" "calretinin" - "obsolete_mosaic monosomy X" "level of cytosolic beta-glucosidase in blood serum" "admixed ancestry"@en + "obsolete_mosaic monosomy X" "monoatomic ion" "Ralstonia phage RSL1" "polydactyly, postaxial, type A1" @@ -32550,8 +32553,8 @@ "Muscle filaminopathy" "obsolete_spleen" "spermatogenesis-associated protein 20 measurement" - "CCL5 measurement" "hypopharynx anlage" + "CCL5 measurement" "transcription factor RelB" "Cucumis sativus" "lamina propria of small intestine" @@ -32561,8 +32564,8 @@ "adult-onset proximal spinal muscular atrophy, autosomal dominant" "transcobalamin-1" "Abnormal reflex" - "ubiquitin-conjugating enzyme E2 N" "obsolete_interventricular septum aneurysm" + "ubiquitin-conjugating enzyme E2 N" "nasal cavity and paranasal sinus neoplasm" "grancalcin" "Atrial stand still" @@ -32624,16 +32627,16 @@ "intellectual disability and myopathy syndrome" "protein POF1B" "Takayasu arteritis" - "Unclassified Renal Cell Carcinoma" "ezrin measurement" + "Unclassified Renal Cell Carcinoma" "obsolete_dorsal histoblast nest abdominal" "sphingomyelin d18:1/16:0" "glutathione peroxidase 7" "recessive spherocytosis"@en "Huntington disease-like syndrome" + "obsolete_torsade-de-pointes syndrome with short coupling interval" "input DNA" "nuclear apoptosis-inducing factor 1" - "obsolete_torsade-de-pointes syndrome with short coupling interval" "thioredoxin-like protein 1" "Hyperostosis" "sudden sensorineural hearing loss" @@ -32643,8 +32646,8 @@ "Clark level II" "level of DDB1- and CUL4-associated factor 11 in blood serum" "hypoplastic left heart syndrome 2" - "obsolete_ureter" "Disorder of bile acid synthesis" + "obsolete_ureter" "novobiocin" "neuropathy, congenital hypomelinating" "tongue neoplasm" @@ -32679,8 +32682,8 @@ "obsolete_acral dystrophic epidermolysis bullosa" "Corneal dystrophy - perceptive deafness" "obsolete_tuberous sclerosis" - "thioredoxin measurement" "Secretory diarrhea" + "thioredoxin measurement" "sodium nitroprusside" "hereditary cerebellar ataxia" "obsolete_hyperphosphatasia-intellectual disability syndrome" @@ -32715,8 +32718,8 @@ "MC-Hi-C" "GRIP and coiled-coil domain-containing protein 1" "Charcot-Marie-Tooth disease type 4" - "X-24870 measurement" "cardiovascular cancer" + "X-24870 measurement" "autosomal dominant progressive external ophthalmoplegia" "peritrophic membrane" "troglitazone" @@ -32747,11 +32750,11 @@ "level of serine protease inhibitor Kazal-type 5 in blood" "carotenoid measurement" "obsolete_partial duplication of the long arm of chromosome X" - "CACH syndrome" "hepatitis B virus X-interacting protein" "cold-induced vasodilation"@en "campylobacteriosis" "Helicobacter pylori J99" + "CACH syndrome" "level of ataxin-3 in blood" "Bradyrhizobium japonicum USDA 110" "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction" @@ -32768,11 +32771,11 @@ "level of coiled-coil domain-containing protein 25 in blood serum" "cholesteryl ester 16:2 measurement" "pantothenate kinase 1" - "Fc receptor-like protein 4 measurement" - "C-glycosyltryptophan measurement" "thick ascending limb of loop of Henle" + "Fc receptor-like protein 4 measurement" "arthrogryposis, distal, type 1C" "transmembrane protein 185A" + "C-glycosyltryptophan measurement" "congenital diarrhea 6" "tumor necrosis factor ligand superfamily member 12 measurement" "BJ" @@ -32828,9 +32831,9 @@ "level of caspase recruitment domain-containing protein 19 in blood serum" "hypoaldosteronism disease" "obsolete_adult neuronal ceroid lipofuscinosis" + "Benign familial chorea" "level of ubiquitin carboxyl-terminal hydrolase 21 in blood serum" "frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome" - "Benign familial chorea" "level of ribokinase in blood" "angiokeratoma corporis diffusum with arteriovenous fistulas" "T-box brain protein 1" @@ -32841,11 +32844,11 @@ "putative inactive group IIC secretory phospholipase A2 measurement" "59M" "pyridoxine-5'-phosphate oxidase" + "L-Glutamic acid to 3-Indolepropionic acid ratio" "skeletal system disease" "stathmin" "interferon-induced GTP-binding protein Mx1" "urinary tract infection" - "L-Glutamic acid to 3-Indolepropionic acid ratio" "hyperandrogenism" "obsolete_response to flurouracil" "phosphocreatine measurement"@en @@ -32971,9 +32974,9 @@ "level of high mobility group protein B2 in blood serum" "F9 mouse embryonal carcinoma cell line" "phosphatidylcholine acyl-alkyl C34:1 measurement" + "obsolete_Borjeson-Forssman-Lehmann syndrome" "viral hemorrhagic septicemia" "level of gephyrin in blood serum" - "obsolete_Borjeson-Forssman-Lehmann syndrome" "level of TIMELESS-interacting protein in blood serum" "megaconial type congenital muscular dystrophy" "large ribosomal subunit protein P2" @@ -33027,8 +33030,8 @@ "obsolete_partial trisomy/tetrasomy of the short arm of chromosome 18" "progressive non-fluent aphasia" "mycosis fungoides" - "level of aldehyde dehydrogenase 1A1 in blood" "Roseolovirus infectious disease" + "level of aldehyde dehydrogenase 1A1 in blood" "familial hypocalciuric hypercalcemia" "gamma-delta T cell" "Prelingual sensorineural hearing impairment" @@ -33088,12 +33091,12 @@ "obsolete_cephalocele" "monensin A" "obsolete coloboma of optic disk" - "Orofaciodigital syndrome type 8" "demethylphosphinothricin measurement" - "nectin-2 measurement" + "Orofaciodigital syndrome type 8" "acromesomelic dysplasia 2B" "central nervous system vasculitis" "protein PALS2" + "nectin-2 measurement" "GM12239" "maple syrup urine disease type 1A" "obsolete_X-linked intellectual disability, Cilliers type" @@ -33113,9 +33116,9 @@ "Autosomal recessive spastic paraplegia type 61" "Enoplea infectious disease" "obsolete_homocarnosinosis" + "obsolete_Jackson-Weiss syndrome" "5' STRT-seq"@en "coiled-coil domain-containing protein 80 measurement" - "obsolete_Jackson-Weiss syndrome" "speech disorder" "arachindonoyl phenylalanine measurement" "cervical dystonia" @@ -33169,10 +33172,10 @@ "RPGR-related retinopathy" "NCI-H2172" "atrophic glossitis" - "level of N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming in blood" "developmental and epileptic encephalopathy, 52" "response to vitamin" "metacarpal bone" + "level of N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming in blood" "1-stearoyl-sn-glycero-3-phosphocholine" "marginal blastomere" "obsolete_U-266" @@ -33222,18 +33225,18 @@ "calcitonin gene-related peptide 2" "cerebrooculofacioskeletal syndrome 1" "event death" + "obsolete_thoracolumbosacral spina bifida cystica" "RCC-10 cell" "Oculomotor apraxia" - "obsolete_thoracolumbosacral spina bifida cystica" "orofaciodigital syndrome V" "ST-1" "Caki1" "epidermolysis bullosa, junctional 4, intermediate" "multiple acyl-CoA dehydrogenase deficiency, severe neonatal type" "2-stearoyl-GPI (18:0) measurement" - "3-N-Methyl-L-histidine measurement" "Coats plus syndrome" "beta-crystallin B1" + "3-N-Methyl-L-histidine measurement" "obsolete pure or complex autosomal recessive spastic paraplegia" "alcohol dehydrogenase 4 measurement" "Paget disease" @@ -33251,8 +33254,8 @@ "obsolete familial isolated restrictive cardiomyopathy" "level of chloride intracellular channel protein 2 in blood serum" "level of interleukin-12 subunit alpha in blood serum" - "elastin" "chronic diarrheal disease" + "elastin" "vesicle-trafficking protein SEC22a" "level of G1/S-specific cyclin-D2 in blood" "protein amnionless measurement" @@ -33266,6 +33269,7 @@ "calcium-regulated heat-stable protein 1" "HUES28" "obsolete_attenuated familial adenomatous polyposis" + "protein NDNF measurement" "Enterovirus infectious disease" "Kindalville ecotype" "ATP6AP2-related disorder" @@ -33273,11 +33277,10 @@ "level of SOSS complex subunit C in blood serum" "Abnormality of head or neck" "level of Leu-Ser in blood" - "protein NDNF measurement" "viral load" "sonicator" - "obsolete_penis" "CLN13 disease" + "obsolete_penis" "cerebellar hemangioblastoma" "presumptive hypochord" "obsolete_LEOPARD syndrome" @@ -33318,8 +33321,8 @@ "reflex sympathetic dystrophy" "yaws" "level of glutathione peroxidase 7 in blood serum" - "obsolete_49,XYYYY syndrome" "complement C1q tumor necrosis factor-related protein 3" + "obsolete_49,XYYYY syndrome" "obsolete_partial cryptophthalmia" "postaxial acrofacial dysostosis" "Fanconi anemia complementation group L" @@ -33327,8 +33330,8 @@ "ataxia telangiectasia" "lung ciliated cell" "shortness of breath" - "level of Phosphatidylcholine (17:0_18:1) in blood serum" "multiple benign circumferential skin creases on limbs" + "level of Phosphatidylcholine (17:0_18:1) in blood serum" "3-phenyllactate" "vasculature of eye" "3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT3" @@ -33437,8 +33440,8 @@ "paratyphoid fever" "level of MANSC domain-containing protein 4 in blood serum" "retinal telangiectasia" - "level of protein C-ets-2 in blood serum" "syndromic aniridia" + "level of protein C-ets-2 in blood serum" "nasal encephalocele" "Lewy body measurement" "adult endothelial progenitor cell" @@ -33522,10 +33525,10 @@ "EEG with generalized epileptiform discharges" "cholesteryl ester 17:0 measurement" "glycerophosphoserine" + "Hypotrichosis - lymphedema - telangiectasia" "Burkholderia lata" "level of adaptin ear-binding coat-associated protein 2 in blood serum" "distal convoluted tubule" - "Hypotrichosis - lymphedema - telangiectasia" "Tarlov Cysts" "9q31.1q31.3 microdeletion syndrome" "Undifferentiated Gallbladder Carcinoma" @@ -33533,17 +33536,17 @@ "pharyngeal arch artery 4" "glycogen storage disease due to liver phosphorylase kinase deficiency" "cochlin measurement" - "Anonychia - microcephaly" "pregnancy-specific beta-1-glycoprotein 4" "anti-CTCF" "chromosome 14q11-q22 deletion syndrome" + "Anonychia - microcephaly" "thioredoxin-like protein 4A" "obsolete_hyperkeratosis lenticularis perstans" "2q37 microdeletion syndrome" "Drechslera sp." "obsolete_kidney (Bos taurus)" - "valylglycine measurement" "cholesteryl octadecadienoate" + "valylglycine measurement" "GM15268" "susceptibility to pneumonia measurement" "leukopenia" @@ -33551,8 +33554,8 @@ "obsolete_urethra" "metastatic melanoma" "putative phospholipase B-like 2 measurement" - "624 mel" "X-12645 measurement" + "624 mel" "a disintegrin and metalloproteinase with thrombospondin motifs 13 measurement" "interstitial lung disease specific to adulthood" "L-Serine to 3-Indolepropionic acid ratio" @@ -33610,13 +33613,13 @@ "Motor delay" "level of F-actin-capping protein subunit beta in blood serum" "RNA polymerase II elongation factor ELL" - "ceramide transfer protein" - "high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor measurement" "streptococcus virus phage virus seropositivity" - "colon neuroendocrine neoplasm" - "TIP41-like protein" + "high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor measurement" + "ceramide transfer protein" "triacylglycerol 48:2 measurement"@en "neutrophil collagenase measurement" + "colon neuroendocrine neoplasm" + "TIP41-like protein" "cowpox" "obsolete thrombotic disorder due to a constitutional coagulation factors defect" "fertilized egg stage" @@ -33685,8 +33688,8 @@ "Hexanoyl glycine measurement" "Unilateral deafness" "Benign Ovarian Brenner Tumor" - "oculoauriculofrontonasal syndrome" "X-linked intellectual disability, Wittner type" + "oculoauriculofrontonasal syndrome" "level of neurexin-3-alpha in blood serum" "Lactobacillus hilgardii" "centrifuge" @@ -33707,9 +33710,9 @@ "4-acetamidophenylglucuronide measurement" "Meleagris gallopavo" "obsolete_Salla disease" + "obsolete_mandibular lateral line neuromast" "digenic alpha thalassemia spectrum" "level of integrin beta-1 in blood serum" - "obsolete_mandibular lateral line neuromast" "hereditary site-specific ovarian cancer syndrome" "CS57827" "renal connecting tubule" @@ -33741,16 +33744,16 @@ "acute perichondritis of pinna" "spondyloarthropathy, susceptibility to" "autosomal dominant cerebellar ataxia, deafness and narcolepsy" + "obsolete_Gorham-Stout disease" "platelet-type bleeding disorder 14" "free sialic acid storage disease, infantile form" "thyrotroph embryonic factor" - "obsolete_Gorham-Stout disease" "Sordaria macrospora" "microcephalic osteodysplastic primordial dwarfism type I" "dose" + "obsolete_Holt-Oram syndrome" "transmembrane emp24 domain-containing protein 1" "aneurysm-osteoarthritis syndrome" - "obsolete_Holt-Oram syndrome" "obsolete_combined oxidative phosphorylation defect type 14" "Mel-2183" "salivary gland mucoepidermoid carcinoma" @@ -33824,8 +33827,8 @@ "GM12248" "HCC0364" "insect haltere disc" - "total lipids in large VLDL" "sulfotransferase 1B1" + "total lipids in large VLDL" "glycogen storage disease due to phosphoglycerate mutase deficiency" "manic episode measurement" "obsolete_fused mandibular incisors" @@ -33961,8 +33964,8 @@ "level of butyrophilin-like protein 10 in blood" "aromatic-l-amino-acid decarboxylase measurement" "visfatin measurement"@en - "obsolete_hereditary angioedema" "X-10510-to-palmitoyl sphingomyelin ratio" + "obsolete_hereditary angioedema" "1-monolinolein" "level of transcription elongation factor A protein-like 1 in blood serum" "transitional stage B cell" @@ -34007,12 +34010,12 @@ "obsolete_isolated focal palmoplantar keratoderma" "obsolete_delayed membranous cranial ossification" "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 measurement" - "time to first cigarette measurement" "enzootic pneumonia of calves" "Kin-0" "level of pleckstrin homology domain-containing family M member 2 in blood serum" "Abnormality of the mouth" "Leber-like hereditary optic neuropathy, autosomal recessive 2" + "time to first cigarette measurement" "autosomal recessive Parkinson disease 14" "spectrophotometer" "pelvic neoplasm"@en @@ -34045,9 +34048,9 @@ "catalepsy" "obsolete_generalized resistance to thyroid hormone" "glucose-1-phosphate measurement"@en + "Short stature - pituitary and cerebellar defects - small sella turcica" "Desulfotomaculum reducens MI-1" "polypeptide N-acetylgalactosaminyltransferase 2" - "Short stature - pituitary and cerebellar defects - small sella turcica" "level of poly [ADP-ribose] polymerase tankyrase-1 in blood serum" "white sponge nevus 1" "level of ADP-ribosylation factor GTPase-activating protein 2 in blood serum" @@ -34057,9 +34060,9 @@ "COG4-congenital disorder of glycosylation" "obsolete_inverse Marcus-Gunn phenomenon" "obsolete_hypoplasminogenemia" - "familial anetoderma" "Pyropia yezoensis" "Gitelman syndrome" + "familial anetoderma" "Kallmann syndrome - heart disease" "cold urticaria" "atrial septal defect 3" @@ -34093,19 +34096,19 @@ "dual specificity mitogen-activated protein kinase kinase 5" "parotid neoplasm" "muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome" - "HG02981" "obsolete_DNase-Seq" + "HG02981" "Hip pain" "free brassicasterol measurement"@en "triglycerides in medium LDL measurement " - "obsolete_benign partial infantile seizures" "CCAAT/enhancer-binding protein beta measurement" + "obsolete_benign partial infantile seizures" "level of inositol polyphosphate 5-phosphatase OCRL in blood serum" "Synechococcus phage S-IO17" "level of butyrophilin subfamily 2 member A1 in blood" "high affinity immunoglobulin gamma fc receptor i measurement" - "calcium-activated potassium channel subunit beta-3" "social interaction measurement" + "calcium-activated potassium channel subunit beta-3" "obsolete qualitative or quantitative defects of myotubularin" "Machado-Joseph disease" "typical nemaline myopathy" @@ -34188,19 +34191,19 @@ "Rare genetic gastroenterological disease" "Asymmetry of the thorax" "Prader-Willi syndrome due to point mutation" - "splicing factor 1 measurement" "chorea, childhood-onset, with psychomotor retardation" - "antioxidant measurement" + "splicing factor 1 measurement" "5-oxo-ETE measurement" + "antioxidant measurement" "desmosterolosis" "level of serine protease inhibitor Kazal-type 8 in blood" "cysteine sulfinic acid measurement" - "PC(19:3(10Z,13Z,16Z)/0:0)" "obsolete_hereditary sclerosing poikiloderma with tendon and pulmonary involvement" + "PC(19:3(10Z,13Z,16Z)/0:0)" + "obsolete_congenital disorder of glycosylation" "Zollinger-Ellison Syndrome" "multiple sclerosis symptom measurement"@en "level of GRB2-related adapter protein in blood serum" - "obsolete_congenital disorder of glycosylation" "complement C1q tumor necrosis factor-related protein 4" "level of BAG family molecular chaperone regulator 3 in blood" "Rothmund-Thomson syndrome" @@ -34267,14 +34270,14 @@ "AT-rich interactive domain-containing protein 4B" "Tibial pseudarthrosis" "myeloid leukemia cell line" - "level of NEDD8 protein in blood serum" "obsolete_autosomal recessive spastic paraplegia type 67" + "level of NEDD8 protein in blood serum" "testicular hydrocele" - "14q24.1q24.3 microdeletion syndrome" "Undifferentiated Ovarian Carcinoma" + "14q24.1q24.3 microdeletion syndrome" "level of dihydroorotate dehydrogenase (quinone), mitochondrial in blood" - "pharyngeal arch artery 5" "neurogenic bowel" + "pharyngeal arch artery 5" "cytoplasmic tyrosine-protein kinase BMX measurement" "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" "wet beriberi" @@ -34367,8 +34370,8 @@ "trichodental syndrome" "Reticulocyte Corpuscular Hemoglobin Content" "computer" - "obsolete_transient neonatal multiple acyl-CoA dehydrogenase deficiency" "level of tyrosine-protein kinase Mer in blood" + "obsolete_transient neonatal multiple acyl-CoA dehydrogenase deficiency" "obsolete_ventral mesenchyme" "Carney-Stratakis syndrome" "parasubiculum volume" @@ -34406,6 +34409,7 @@ "ciliary dyskinesia, primary, 37" "N-acetyl-L-valine" "oculotrichoanal syndrome" + "apolipoprotein(a)" "Benign Ovarian Endometrioid Tumor" "valylphenylalanine measurement" "vertebral column" @@ -34460,8 +34464,8 @@ "phosphoglyceric acid measurement"@en "Ran GTPase-activating protein 1" "myoclonic cerebellar dyssynergia" - "sulfhydryl oxidase 2 measurement" "aortic aneurysm, familial thoracic 6" + "sulfhydryl oxidase 2 measurement" "hippocampus molecular layer volume" "Cervicitis" "sodium channel protein type 2 subunit alpha" @@ -34505,8 +34509,8 @@ "Glaucoma - sleep apnea" "Bone Anteversion" "response to smoking cessation agent" - "xylosyl- and glucuronyltransferase LARGE1" "HCC0630" + "xylosyl- and glucuronyltransferase LARGE1" "dendritic cell" "paternal 20q13.2q13.3 microdeletion syndrome" "protein dpy-30" @@ -34657,8 +34661,8 @@ "triacylglycerol 58:6" "Asthma" "event free survival time" - "Metatarsus valgus" "hereditary spastic paraplegia 25" + "Metatarsus valgus" "Pancreatitis" "galactose" "Retroperitoneal Inflammatory Myofibroblastic Tumor" @@ -34769,9 +34773,9 @@ "lysosome-associated membrane glycoprotein 3 measurement" "alpha-N-acetylglucosaminidase activity" "Placental Hemangioma" + "Borderline Exocrine Pancreatic Neoplasm" "autosomal dominant sensory ataxia 1" "BV173" - "Borderline Exocrine Pancreatic Neoplasm" "erythrocyte differentiation" "fallopian tube leiomyosarcoma" "viral infection of central nervous system" @@ -34782,9 +34786,9 @@ "HCS protocol" "WW domain binding protein 1-like" "obsolete_AL amyloidosis" + "dieldrin measurement"@en "outbred" "mediator of RNA polymerase II transcription subunit 4" - "dieldrin measurement"@en "obsolete_DNaseI-Seq" "level of 5'-AMP-activated protein kinase subunit gamma-3 in blood" "5-oxoproline" @@ -34837,8 +34841,8 @@ "artemin measurement" "level of 60S acidic ribosomal protein P2 in blood serum" "Corpuscular Hemoglobin Concentration Distribution Width" - "decadienylcarnitine measurement" "Rhamphochromis sp. 'chilingali'" + "decadienylcarnitine measurement" "high affinity nerve growth factor receptor measurement" "Potocki-Lupski syndrome" "allergic bronchopulmonary aspergillosis" @@ -34944,15 +34948,15 @@ "NCI-H1355" "size" "coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial measurement" - "BFTC-909" "EP300-interacting inhibitor of differentiation 3 measurement" + "BFTC-909" "gamma-glutamylcysteine synthetase deficiency" "Congenital intestinal motility disorder" "platelet measurement" "level of isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial in blood serum" "latanoprost free acid" - "obsolete_kidney (Mus musculus)" "spastic paraplegia 90A, autosomal dominant" + "obsolete_kidney (Mus musculus)" "germ ring" "hydroxysphingomyeline C22:1 measurement" "cholesteryl octadecatrienoate" @@ -35014,7 +35018,6 @@ "level of mitochondrial import inner membrane translocase subunit Tim9 B in blood serum" "pontocerebellar hypoplasia, type 16" "platelet-activating factor measurement"@en - "Mandibulofacial dysostosis - macroblepharon - macrostomia" "Mus musculus strain type" "leucine-rich repeat-containing protein 3B" "serine protease 53" @@ -35023,6 +35026,7 @@ "level of tRNA-specific adenosine deaminase 2 in blood serum" "Leber congenital amaurosis" "Mus musculus" + "Mandibulofacial dysostosis - macroblepharon - macrostomia" "disks large-associated protein 4" "Reduced circulating alpha-1-antitrypsin concentration" "phospholipids in small VLDL measurement" @@ -35080,8 +35084,8 @@ "level of transient receptor potential cation channel TRPV3 in blood" "D-Sucrose to 3-Indolepropionic acid ratio" "cholestasis, progressive familial intrahepatic, 12" - "obsolete_methylmalonic acidemia with homocystinuria, type cblJ" "Pyrus hybrid cultivar" + "obsolete_methylmalonic acidemia with homocystinuria, type cblJ" "Hydrocinnamic acid measurement" "age of onset of cognitive disorder" "hormone-mediated signaling pathway" @@ -35155,8 +35159,8 @@ "islet cell autoantigen 1" "level of actin nucleation-promoting factor WASL in blood" "level of AN1-type zinc finger protein 5 in blood serum" - "topiramate" "hippocampal tail volume" + "topiramate" "level of prolyl 3-hydroxylase 1 in blood serum" "scATAC-seq" "L-homocitrulline" @@ -35189,11 +35193,11 @@ "obsolete_digit" "level of lymphokine-activated killer T-cell-originated protein kinase in blood" "obsolete_Keipert syndrome" + "Xeroderma pigmentosum variant" "venom gland" "obsolete_hair follicle" - "Xeroderma pigmentosum variant" - "pneumonia" "alpha-S1-casein measurement" + "pneumonia" "Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome" "binding site identification design" "pimelic acid measurement"@en @@ -35228,8 +35232,8 @@ "trehalase" "Hallux rigidus" "qualitative or quantitative defects of myofibrillar proteins" - "La-related protein 1" "Bordetella Infections" + "La-related protein 1" "HCC1011" "total cholesterol in large VLDL" "female genital tract polyp" @@ -35300,8 +35304,8 @@ "triacylglycerol 50:0 measurement" "obsolete_neural keel" "Reduced social responsiveness" - "obsolete_partial duplication of the short arm of chromosome 11" "prostate lymphoma" + "obsolete_partial duplication of the short arm of chromosome 11" "WAP four-disulfide core domain protein 13 measurement" "clathrin heavy chain 1" "Staphylococcus aureus subsp. aureus MRSA252" @@ -35345,8 +35349,8 @@ "level of probable RNA-binding protein 18 in blood serum" "symphytine oxide" "Microcephaly - brain defect - spasticity - hypernatremia" - "carcinoma of pharynx" "obsolete_macrocephaly-developmental delay syndrome" + "carcinoma of pharynx" "obsolete_blepharonasofacial malformation syndrome" "adenosylhomocysteinase" "adverse effect" @@ -35448,8 +35452,8 @@ "leukoencephalopathy, megalencephalic" "level of cotranscriptional regulator FAM172A in blood serum" "DNA-directed DNA/RNA polymerase mu measurement" - "Abnormal optic chiasm morphology" "hydantoin-5-propionate measurement" + "Abnormal optic chiasm morphology" "CCL2 measurement" "intra-abdominal hemangioma" "obsolete_distal trisomy 4q" @@ -35461,15 +35465,15 @@ "2-aminobutyrate measurement"@en "level of eukaryotic translation initiation factor 3 subunit J in blood serum" "juvenile hyaline fibromatosis" - "dizziness" "level of neurocan core protein in blood serum" + "dizziness" "hearing loss, autosomal recessive" "3-hydroxy-3-methylglutaric acid" - "polypeptide N-acetylgalactosaminyltransferase 4" "obsolete_fatal familial insomnia" + "polypeptide N-acetylgalactosaminyltransferase 4" + "obsolete_utering smooth muscle cell" "level of troponin T, cardiac muscle in blood serum" "Williams syndrome" - "obsolete_utering smooth muscle cell" "pyridoxamine measurement"@en "familial primary hypomagnesemia" "severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion" @@ -35504,8 +35508,8 @@ "level of secernin-3 in blood" "childhood acute lymphoblastic leukemia" "mitogen-activated protein kinase 10" - "level of pantetheine hydrolase VNN2 in blood" "lipemic index" + "level of pantetheine hydrolase VNN2 in blood" "nicotine metabolite ratio" "intellectual disability-cardiac anomalies-short stature-joint laxity syndrome" "Erythema" @@ -35579,8 +35583,8 @@ "level of sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase in blood serum" "tumor protein p53-inducible protein 11" "X-linked non progressive cerebellar ataxia" - "level of zona pellucida-like domain-containing protein 1 in blood serum" "kelch-like protein 7" + "level of zona pellucida-like domain-containing protein 1 in blood serum" "NEDD8-activating enzyme E1 catalytic subunit" "obsolete_Progressive symmetric erythrokeratodermia" "obsolete_hereditary sensory and autonomic neuropathy with spastic paraplegia" @@ -35711,11 +35715,11 @@ "transforming growth factor beta-2 measurement" "GYG1-related disorder of glycogen metabolism" "carcinogen role" - "COV318" "Non-syndromic cerebral malformation due to abnormal neuronal migration" + "COV318" + "retina-specific copper amine oxidase measurement" "craniofacial microsomia" "response to dietary potassium supplementation" - "retina-specific copper amine oxidase measurement" "thrombin activatable fibrinolysis inhibitor activation peptide measurement" "level of ubiquitin-conjugating enzyme E2 A in blood serum" "obsolete_hypoblast" @@ -35815,10 +35819,10 @@ "Rare genetic tumor" "syringoma" "familial multiple nevi flammei" - "heat shock 70 kDa protein 1-like measurement" "curator" - "level of tumor necrosis factor receptor superfamily member 3 in blood serum" + "heat shock 70 kDa protein 1-like measurement" "hypomandibular faciocranial dysostosis" + "level of tumor necrosis factor receptor superfamily member 3 in blood serum" "Rhagoletis pomonella" "follicular lymphoma, susceptibility to, 1" "uncharacterized protein C3orf18" @@ -35857,8 +35861,8 @@ "HCC1195" "obsolete_inferior colliculus" "obsolete_cockayne syndrome" - "obsolete_spinal muscular atrophy with respiratory distress" "propionic acid measurement"@en + "obsolete_spinal muscular atrophy with respiratory distress" "obsolete_response to montelukast" "biomolecular annotation design" "smoking behavior" @@ -35871,16 +35875,16 @@ "hydrolysis collection protocol" "IMPG1-related recessive retinopathy" "Vibrio vulnificus" - "insulin secretion" "Generalized muscle hypertrophy" + "insulin secretion" "Proximal placement of thumb" "obsolete_hereditary sensory and autonomic neuropathy type 1" "pregnenediol sulfate (C21H34O5S) measurement" "collagen alpha-1(I) chain measurement" "tracheobronchial amyloidosis" + "hippocampal atrophy" "molar mass unit" "level of caspase recruitment domain-containing protein 9 in blood serum" - "hippocampal atrophy" "obsolete rare eye disease due to a differentiation anomaly" "level of immediate early response gene 2 protein in blood serum" "acrylamide" @@ -35905,13 +35909,13 @@ "obsolete_ring chromosome 5" "plant developmental tissue" "triggering receptor expressed on myeloid cells 1" - "X-08988 measurement" "qualitative or quantitative defects of desmin" "activator of apoptosis harakiri" + "X-08988 measurement" "adrenogenital syndrome" - "Glomerulonephritis - sparse hair - telangiectasis" "RK-13" "obsolete_forelimb" + "Glomerulonephritis - sparse hair - telangiectasis" "Brain Stem Hemorrhage, Traumatic" "level of 28 kDa heat- and acid-stable phosphoprotein in blood" "Sarcomatoid Carcinoma" @@ -36073,8 +36077,8 @@ "level of H/ACA ribonucleoprotein complex subunit 2 in blood serum" "obsolete idiopathic inherited hypercalciuria" "Mediastinal Neuroblastoma" - "Tuberculosis, Bovine" "obsolete_distal trisomy 11q" + "Tuberculosis, Bovine" "cadherin-20" "epidermolysis bullosa simplex 1C, localized" "dimethyl sulfoxide" @@ -36102,11 +36106,11 @@ "piwi-like protein 1 measurement" "hereditary spastic paraplegia 73" "lysophosphatidylcholine 18:0" + "complement factor H-related proteins measurement" "LDL peak particle diameter measurement" "HCC1162" "Vissers-Bodmer syndrome" "dihydropyrimidinase" - "complement factor H-related proteins measurement" "dysthymic disorder" "level of gamma-glutamylcyclotransferase in blood" "sulfotransferase 2B1" @@ -36210,8 +36214,8 @@ "obsolete_disorder of neutral amino acid transport" "spinocerebellar ataxia 47" "obsolete anomaly of puberty or/and menstrual cycle of genetic origin" - "ADP-ribosylation factor-like protein 15" "diacylglycerol kinase beta measurement" + "ADP-ribosylation factor-like protein 15" "obsolete syndromic genetic hearing loss" "Wilms tumor 1" "sorbate measurement"@en @@ -36240,8 +36244,8 @@ "Stuve-Wiedemann syndrome 2" "glioma susceptibility 1" "dexamethasone" - "obsolete_acute myeloid leukemia with CEBPA somatic mutations" "obsolete_beta-ureidopropionase deficiency" + "obsolete_acute myeloid leukemia with CEBPA somatic mutations" "descending colon" "PE RAD-Seq" "level of vacuolar protein sorting-associated protein 28 in blood" @@ -36252,12 +36256,12 @@ "level of sperm protein associated with the nucleus on the X chromosome N4 in blood serum" "ciliary dyskinesia, primary, 38" "level of voltage-dependent L-type calcium channel subunit beta-3 in blood serum" - "obsolete_isolated aniridia" "Beare-Stevenson cutis gyrata syndrome" "uronyl 2-sulfotransferase" + "obsolete_isolated aniridia" "dihydroferulate measurement" - "level of inositol hexakisphosphate kinase 1 in blood serum" "level of general transcription factor IIF subunit 2 in blood serum" + "level of inositol hexakisphosphate kinase 1 in blood serum" "obsolete_sample factor" "Arnold-Chiari malformation type II" "obsolete_acrocephalosyndactyly" @@ -36294,8 +36298,8 @@ "Dandy-Walker syndrome" "malignant breast myoepithelioma" "Unsteady gait" - "beta-1,4-galactosyltransferase 7 measurement" "(15Z)-12-oxophyto-10,15-dienoic acid" + "beta-1,4-galactosyltransferase 7 measurement" "6,7-dihydropteridine reductase activity" "level of Arg-Phe in blood" "breakfast skipping measurement" @@ -36393,8 +36397,8 @@ "sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) measurement" "suberic acid measurement"@en "alpha synuclein measurement" - "obsolete_olfactory placode" "hematopoietically-expressed homeobox protein HHEX" + "obsolete_olfactory placode" "level of disks large-associated protein 5 in blood" "Polyphagia" "non-gestational choriocarcinoma" @@ -36424,9 +36428,9 @@ "Blepharophimosis - ptosis - esotropia - syndactyly - short stature" "ergothioneine" "coisogenic strain" - "level of pyruvate carboxylase, mitochondrial in blood serum" - "floral organ formation stage" "NHP2-like protein 1" + "floral organ formation stage" + "level of pyruvate carboxylase, mitochondrial in blood serum" "carcinoma, non-human animal" "pituitary homeobox 3" "integumental cell" @@ -36492,8 +36496,8 @@ "RNA-binding motif, single-stranded-interacting protein 1" "age of onset of cervical dystonia" "level of MICAL-like protein 2 in blood serum" - "level of carboxypeptidase A2 in blood serum" "polyposis" + "level of carboxypeptidase A2 in blood serum" "dual specificity protein phosphatase 16 measurement" "acquired adult-onset immunodeficiency" "hepatocyte" @@ -36501,14 +36505,14 @@ "alcohol dehydrogenase [NADP+] measurement" "phosphatidylcholine acyl-alkyl C38:4 measurement" "N-acetyl-3-methylhistidine measurement" - "level of tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 in blood serum" "OAW42" + "level of tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 in blood serum" "hypoparathyroidism-retardation-dysmorphism syndrome" "basophil measurement" "Amelogenesis imperfecta and gingival hyperplasia syndrome" "heat shock 70 kDa protein 6 measurement" - "NKG2-E type II integral membrane protein measurement" "Trichiasis" + "NKG2-E type II integral membrane protein measurement" "L1 larva" "severe intellectual disability-progressive spastic diplegia syndrome" "amyotrophic lateral sclerosis type 18" @@ -36554,8 +36558,8 @@ "cervical adenocarcinoma cell line" "Candida albicans WO-1" "colonic atresia" - "GAM" "3-hydroxyphenylacetic acid" + "GAM" "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3" "progonadoliberin-1 measurement" "NCI-H2122" @@ -36565,14 +36569,14 @@ "Down syndrome" "keratosis palmaris et plantaris-clinodactyly syndrome" "thymidine kinase 2, mitochondrial" - "obsolete_taurodontism" - "obsolete_16q24.3 microdeletion syndrome" "Na_C34:1 DAG_or_TAG_fragment measurement" "JHH-4" "level of TSC22 domain family protein 3 in blood serum" "transforming growth factor beta-3 measurement" "Increased intestinal transit time" + "obsolete_taurodontism" "granulosa cell layer" + "obsolete_16q24.3 microdeletion syndrome" "level of ubiquitin carboxyl-terminal hydrolase 4 in blood serum" "C-reactive protein measurement" "netrin-1 measurement" @@ -36582,8 +36586,8 @@ "Filippi syndrome" "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" "corticobasal degeneration disorder" - "level of programmed cell death protein 6 in blood" "glutathione peroxidase activity" + "level of programmed cell death protein 6 in blood" "dehydroepiandrosterone measurement"@en "Rare disease with thoracic aortic aneurysm and aortic dissection" "Sarcomatoid Mesothelioma" @@ -36678,9 +36682,9 @@ "lysophosphatidylethanolamine 22:6" "congenital muscular dystrophy" "hippuric acid measurement"@en + "obsolete_mesial temporal lobe epilepsy with hippocampal sclerosis" "obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma" "WT limb-blood syndrome" - "obsolete_mesial temporal lobe epilepsy with hippocampal sclerosis" "hemangiomas of small intestine" "insulinoma" "suppressor of cytokine signaling 7 measurement" @@ -36774,9 +36778,9 @@ "palmoplantar keratoderma-spastic paralysis syndrome" "uncharacterized protein C2orf66 (human)" "lactoylglutathione lyase measurement" - "cardiac tuberculosis" "Medullomyoblastoma with Myogenic Differentiation" "Reduced bone mineral density" + "cardiac tuberculosis" "lachnospiraceae seropositivity" "benign choroid plexus neoplasm" "brain injury" @@ -36810,8 +36814,8 @@ "HCC1263" "pectoral fin skeleton" "myopathy, epilepsy, and progressive cerebral atrophy" - "carotid artery disease" "vitreous body disease" + "carotid artery disease" "multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3" "sulfotransferase 4A1" "2',3'-cyclic-nucleotide 3'-phosphodiesterase" @@ -36834,10 +36838,10 @@ "Cochleosaccular degeneration - cataract" "obsolete_autosomal dominant omodysplasia" "Crisponi syndrome" - "miliaria" "level of charged multivesicular body protein 6 in blood" "level of BRCA2 and CDKN1A-interacting protein in blood serum" "hematuria, benign familial, 1" + "miliaria" "submaxillary gland androgen-regulated protein 3A measurement" "DnaJ homolog subfamily B member 12 measurement" "guanylate cyclase activator 2B" @@ -36955,8 +36959,8 @@ "RS 39604 hydrochloride" "level of spermatogenesis-associated protein 20 in blood serum" "obsolete_neuroferritinopathy" - "limb" "abdominal aortic fatty streak" + "limb" "male accessory sex gland" "obsolete_Charcot-Marie-Tooth disease type 4G" "level of inositol hexakisphosphate kinase 2 in blood serum" @@ -36977,8 +36981,8 @@ "obsolete_anal fin" "endoplasmic reticulum aminopeptidase 2" "esophageal varices" - "obsolete_obesity due to SIM1 deficiency" "trait in response to thiazide" + "obsolete_obesity due to SIM1 deficiency" "butyrobetaine measurement" "future diencephalon" "DnaJ homolog subfamily C member 15 measurement" @@ -37053,8 +37057,8 @@ "childhood brain stem neoplasm" "trachea blood vessel" "obsolete_lateral geniculate nucleus" - "type II NK T cell" "vascular leaf" + "type II NK T cell" "obsolete_familial abdominal aortic aneurysm" "histone-lysine N-methyltransferase SETD2" "DEOC-1" @@ -37096,8 +37100,8 @@ "transferrin receptor protein 2" "Weill-Marchesani syndrome" "Decreased circulating vitamin B12 concentration" - "alveolar soft part sarcoma" "coiled-coil domain-containing protein 89" + "alveolar soft part sarcoma" "retinitis pigmentosa 88" "narcolepsy-cataplexy syndrome" "trigeminal autonomic cephalalgia" @@ -37132,9 +37136,9 @@ "genistein" "splenic diffuse red pulp small B-cell lymphoma" "limb-girdle muscular dystrophy" - "obsolete_metaphyseal chondrodysplasia, Jansen type" "Genetic digestive tract tumor" "Leydig cell hypoplasia" + "obsolete_metaphyseal chondrodysplasia, Jansen type" "nanomolar" "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1" "amyotrophic lateral sclerosis type 2, juvenile" @@ -37146,12 +37150,12 @@ "fumaric aciduria" "level of frizzled-1 in blood serum" "obsolete_Laron syndrome with immunodeficiency" - "polyadenylate-binding protein-interacting protein 1 measurement" "lymphoma, non-human animal" "cyclosporin A" "skin disease" "ulnar nerve" "level of Leucyl-Asparagine in blood" + "polyadenylate-binding protein-interacting protein 1 measurement" "heparan sulfate glucosamine 3-O-sulfotransferase 4" "encephalopathy due to sulfite oxidase deficiency" "triglycerides in IDL measurement" @@ -37348,11 +37352,11 @@ "obsolete_congenital absence/hypoplasia of fingers excluding thumb" "titin" "lymphatic malformation 12" + "obsolete_TARP syndrome" "level of ubiquitin domain-containing protein 2 in blood serum" "X-11850 measurement" - "obsolete_TARP syndrome" - "obsolete_Inositol measurement" "obsolete_nonepidermolytic palmoplantar keratoderma" + "obsolete_Inositol measurement" "disorder of folate metabolism and transport" "Nephrogenic rest" "pulmonary fibrosis and/or bone marrow failure, telomere-related" @@ -37388,8 +37392,8 @@ "level of 1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphoethanolamine in blood" "image" "integral membrane protein 2A measurement" - "level of alpha-1-syntrophin in blood serum" "histoplasmosis" + "level of alpha-1-syntrophin in blood serum" "uncharacterized protein C19orf18 (human)" "level of protein kish-B in blood serum" "single-pass membrane and coiled-coil domain-containing protein 2 measurement" @@ -37443,8 +37447,8 @@ "level of cancer/testis antigen family 45 member A1 in blood serum" "benign neoplasm of appendix" "paranasal sinus carcinoma" - "obsolete_autosomal recessive ataxia due to ubiquinone deficiency" "level of serine/threonine-protein kinase 4 in blood serum" + "obsolete_autosomal recessive ataxia due to ubiquinone deficiency" "beta-1,4 N-acetylgalactosaminyltransferase 1" "EFM-192C" "probable carboxypeptidase X1" @@ -37540,8 +37544,8 @@ "motor neuron disease" "Xenopus (Silurana) tropicalis" "obsolete_XYLT1-CDG" - "Kit-negative, Ly-76 high orthochromatophilic erythroblasts" "Bordetella sp." + "Kit-negative, Ly-76 high orthochromatophilic erythroblasts" "anti-neutrophil cytoplasmic antibody-associated vasculitis" "diglyceride change measurement" "whole plant fruit formation stage" @@ -37603,9 +37607,9 @@ "obsolete_microcytic anemia with liver iron overload" "1-palmitoyl-GPI (16:0) measurement" "triacylglycerol 51:2 measurement" - "Ficoll-Hypaque method" "macrocephaly-autism syndrome" "intellectual disability-facial dysmorphism-hand anomalies syndrome" + "Ficoll-Hypaque method" "Methicillin-Resistant Staphylococcus Aureus Pneumonia" "lipoma of face" "vaginal carcinoma" @@ -37708,8 +37712,8 @@ "SNU-C1" "beta-defensin 106 measurement" "Pseudomonas putida" - "response to diet"@en "egg cell" + "response to diet"@en "mosaic trisomy 18" "receptor-transporting protein 4" "obsolete_non neural ectoderm" @@ -37773,8 +37777,8 @@ "Postlingual non-syndromic genetic deafness" "1-(1-enyl-palmitoyl)-2-linoleoyl-GPC (P-16:0/18:2) measurement" "level of zinc finger protein 18 in blood serum" - "obsolete_microtriplication 11q24.1" "Cowden syndrome 3" + "obsolete_microtriplication 11q24.1" "late pro-B cell" "MAGUK p55 subfamily member 7 measurement" "beta-galactosidase activity" @@ -37807,10 +37811,10 @@ "immunodeficiency, common variable, 6" "West syndrome" "level of complement receptor type 1 in blood" - "level of U6 snRNA-associated Sm-like protein LSm8 in blood" "Hypoglycemic coma" - "myopia 27" + "level of U6 snRNA-associated Sm-like protein LSm8 in blood" "craniosynostosis 5, susceptibility to" + "myopia 27" "non-Langerhans cell histiocytosis" "keratocyte" "sample barcode offset" @@ -37892,8 +37896,8 @@ "rhombomere 8" "Rhizobium etli CFN 42" "Narrow face" - "chromosome 17p13.3 duplication syndrome" "beta-1,4-glucuronyltransferase 1 measurement" + "chromosome 17p13.3 duplication syndrome" "BMP receptor type-1B" "level of plasma membrane calcium-transporting ATPase 4 in blood" "obsolete_colorectal tumor" @@ -37949,8 +37953,8 @@ "microphthalmia with limb anomalies" "immunodeficiency-related disorder" "level of glyoxylate reductase/hydroxypyruvate reductase in blood serum" - "multiple sclerosis, susceptibility to, 5" "Orofaciodigital syndrome type 11" + "multiple sclerosis, susceptibility to, 5" "Monosiga brevicollis" "neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies" "MN1" @@ -37958,8 +37962,8 @@ "obsolete_Rieger anomaly" "6-hydroxyindole sulfate measurement" "obsolete_apert syndrome" - "level of CCAAT/enhancer-binding protein alpha in blood serum" "Thymic Squamous Cell Carcinoma" + "level of CCAAT/enhancer-binding protein alpha in blood serum" "Thy-1 membrane glycoprotein" "parietal foramina 1" "15q overgrowth syndrome" @@ -38001,10 +38005,10 @@ "Deafness - intellectual disability, Martin-Probst type" "phosphatidylcholine O-40:6" "Lactococcus lactis subsp. cremoris" - "obsolete_X-linked intellectual disability with isolated growth hormone deficiency" "obsolete_generalized isolated dystonia" - "response to calcineurin inhibitor" "Bohring-Opitz syndrome" + "obsolete_X-linked intellectual disability with isolated growth hormone deficiency" + "response to calcineurin inhibitor" "semaphorin-3B" "scyllo-inositol measurement" "Cerebellar vermis atrophy" @@ -38030,11 +38034,11 @@ "disease related to transplantation" "obsolete_oculocutaneous albinism type 3" "Charcot-Marie-Tooth disease type 2A2" - "colorectal adenoma" "pneumoviridae seropositivity" + "colorectal adenoma" + "gender identity disorder" "anal canal" "spondylocarpotarsal synostosis syndrome" - "gender identity disorder" "coronary atherosclerosis" "blastema" "Truncus arteriosus" @@ -38045,16 +38049,16 @@ "centromere protein J" "gamma-glutamyl-2-aminobutyrate measurement" "Cleft palate - large ears - small head" - "Familial afibrinogenemia" "idiopathic bronchiectasis" - "exanthem" "X-23590 measurement" "acute monocytic leukemia" "glucose-galactose malabsorption" "obesity due to prohormone convertase I deficiency" "inherited acute myeloid leukemia" + "exanthem" "Recurrent tonsillitis" "G4 ChIP-seq" + "Familial afibrinogenemia" "1-(1-enyl-stearoyl)-2-linoleoyl-GPC (P-18:0/18:2) measurement" "obsolete_NCIH460" "acyl-protein thioesterase 2" @@ -38071,8 +38075,8 @@ "HCC2885" "serum lipopolysaccharide activity" "ubiquitin-like-conjugating enzyme ATG3" - "obsolete_Saldino-Mainzer syndrome" "level of interferon alpha-14 in blood serum" + "obsolete_Saldino-Mainzer syndrome" "response to warfarin" "obsolete_autosomal dominant limb-girdle muscular dystrophy type 1H" "AG04351" @@ -38124,17 +38128,17 @@ "obsolete_Chudley-McCullough syndrome" "cerebrospinal fluid volume measurement" "obsolete_autosomal recessive spastic paraplegia type 59" - "Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus" "uromodulin measurement"@en "obsolete other immunodeficiency syndrome with predominantly antibody defects" "femoral agenesis/hypoplasia, bilateral" + "Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus" "ectoderm" "functional gastric disease" "autosomal recessive limb-girdle muscular dystrophy type 2D" "Ehlers-Danlos syndrome, vascular type" "occupational dermatitis" - "level of multiple inositol polyphosphate phosphatase 1 in blood serum" "Scyliorhinus canicula" + "level of multiple inositol polyphosphate phosphatase 1 in blood serum" "aquaporin-4" "Rolandic epilepsy" "dynein light chain Tctex-type 3 measurement" @@ -38215,16 +38219,16 @@ "programmed cell death protein 1 measurement" "regulation of gonadotropin secretion" "obsolete_CINCA syndrome" - "CD11b-positive, CD27-positive natural killer cell, mouse" "obsolete_8q22.1 microdeletion syndrome" + "CD11b-positive, CD27-positive natural killer cell, mouse" + "chondroadherin measurement" "L-Histidine to 3-Indolepropionic acid ratio" "hypothyroidism, congenital, nongoitrous" - "chondroadherin measurement" + "selenoprotein S measurement" "level of UDP-glucose 6-dehydrogenase in blood serum" "Mycobacterium leprae" - "selenoprotein S measurement" - "experimental autoimmune encephalomyelitis" "SAVC" + "experimental autoimmune encephalomyelitis" "carcinoma in situ of nasopharynx" "COLO829" "Kostmann syndrome" @@ -38259,8 +38263,8 @@ "ravine syndrome" "level of angiomotin in blood" "focal segmental glomerulosclerosis 5" - "GM14679" "obsolete_short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia" + "GM14679" "fatty acid-binding protein, adipocyte measurement" "interleukin-17 (Mus musculus)" "LDLR chaperone MESD measurement" @@ -38295,13 +38299,13 @@ "obsolete_X-linked mendelian susceptibility to mycobacterial diseases" "Brown-Sequard Syndrome" "HCC1482" - "Colorectal Gastrointestinal Stromal Tumor" "vitreous hemorrhage" "tubulointerstitial kidney disease, autosomal dominant, 2" "craniolenticulosutural dysplasia" "CD71-negative, GlyA-positive orthochromatic erythroblast" "response to simvastatin" "protein canopy homolog 2" + "Colorectal Gastrointestinal Stromal Tumor" "glomerular capsule" "level of statherin in blood serum" "inborn disorder of neurotransmitter metabolism and transport" @@ -38344,8 +38348,8 @@ "level of zinc finger CCHC domain-containing protein 8 in blood" "disorder of acid-base balance" "obsolete_mandibuloacral dysplasia" - "glycolithocholate sulfate measurement" "2-oleoyl-sn-glycero-3-phosphocholine" + "glycolithocholate sulfate measurement" "triacylglycerol 53:2 measurement" "Orthopnea" "6-deoxocastasterone" @@ -38360,9 +38364,9 @@ "artificial sequences" "deoxyribonucleic acid" "obsolete_rhizomelic chondrodysplasia punctata type 1" - "protein phosphatase 1D" "congenital herpes virus infection" "level of beta-defensin 115 in blood serum" + "protein phosphatase 1D" "triploidy" "receptor-type tyrosine-protein phosphatase zeta" "DnaJ homolog subfamily B member 9" @@ -38498,9 +38502,9 @@ "chordate pharyngeal muscle" "cathepsin B measurement" "obsolete_autosomal recessive degenerative and progressive cerebellar ataxia" - "obsolete_Classic Bartter syndrome" "triacylglycerol 56:4" "atrial septal defect, sinus venosus type" + "obsolete_Classic Bartter syndrome" "Polydipsia" "level of copine-7 in blood serum" "obsolete_genetic dementia" @@ -38518,8 +38522,8 @@ "peptidyl-tRNA hydrolase 2, mitochondrial" "genotyping by high throughput sequencing" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2K" - "ML-DmBG3-c2" "exfoliation syndrome, susceptibility to" + "ML-DmBG3-c2" "methyl jasmonate measurement" "obsolete_liver" "transportin-1" @@ -38551,8 +38555,8 @@ "hepatoma-derived growth factor-related protein 2 measurement" "regulation of renal sodium excretion" "Hypomyelination - hypogonadotropic hypogonadism - hypodontia" - "Leishmania donovani" "VCaP" + "Leishmania donovani" "Epstein-Barr virus-associated mesenchymal tumor" "post-operative atrial fibrillation" "catechol O-methyltransferase" @@ -38578,8 +38582,8 @@ "stem cell growth factor-alpha measurement" "muscle, skeletal receptor tyrosine-protein kinase" "orofaciodigital syndrome IX" - "3-Indolepropionic acid to N6-Acetyl-L-lysine ratio" "obsolete_postaxial polydactyly type B, bilateral" + "3-Indolepropionic acid to N6-Acetyl-L-lysine ratio" "KMS-12-BM" "level of GDP-L-fucose synthetase in blood serum" "Mayer-Rokitansky-Küster-Hauser syndrome" @@ -38605,17 +38609,17 @@ "malignant giant cell tumor" "19p13.12 microdeletion syndrome" "N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D" - "lysophosphatidylcholine 15:0 measurement"@en "taurochenodeoxycholate measurement"@en "level of klotho in blood serum" + "lysophosphatidylcholine 15:0 measurement"@en "Alport syndrome" "pancreatic colipase deficiency" "congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency" "level of tyrosine-protein kinase BLK in blood serum" + "systemic lupus erythematosus, susceptibility to, 1" "sorting nexin-18" "esophagus leiomyoma" "Prochlorococcus marinus subsp. pastoris str. CCMP1986" - "systemic lupus erythematosus, susceptibility to, 1" "fibroblast growth factor 3" "presumptive midbrain" "arfaptin-1 measurement" @@ -38638,8 +38642,8 @@ "autoimmune pulmonary alveolar proteinosis" "abdominal aortic artery calcification" "porphyria" - "beta-defensin 107 measurement" "obsolete_laminopathy type Decaudain-Vigouroux" + "beta-defensin 107 measurement" "pediatric osteosarcoma" "methylmercuric dicyanamide measurement" "level of Z-DNA-binding protein 1 in blood" @@ -38648,8 +38652,8 @@ "neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities" "eyelid disease" "Chlamydiaceae Infections" - "indeterminate colitis" "level of hemoglobin subunit epsilon in blood serum" + "indeterminate colitis" "trait in response to mercaptopurine" "neurofascin measurement" "level of dual specificity mitogen-activated protein kinase kinase 5 in blood serum" @@ -38840,16 +38844,16 @@ "obsolete_familial dysfibrinogenemia" "vertebral, cardiac, renal, and limb defects syndrome 2" "Ehlers-Danlos syndrome with periventricular heterotopia" - "Fibulo-ulnar hypoplasia - renal anomalies" "obsolete_presumptive rhombomere 5" "level of frizzled-4 in blood serum" "Okt4 epitope deficiency" "respiratory system disorder, non-human animal" + "Fibulo-ulnar hypoplasia - renal anomalies" "pseudo-bulk aggregation of single-cell expression data" "polypeptide N-acetylgalactosaminyltransferase 10 measurement" + "Macrosomia - microphthalmia - cleft palate" "obsolete_myopathic intestinal pseudoobstruction" "Thyrotoxicosis" - "Macrosomia - microphthalmia - cleft palate" "HCC2911" "obsolete_MEND syndrome" "triacylglycerol 54:4 measurement"@en @@ -38952,9 +38956,9 @@ "programmed cell death protein 5 measurement" "fluid shear stress"@en "Male infertility due to gonadal dysgenesis" + "obsolete_deafness-infertility syndrome" "lymphatic vessel neoplasm" "acute leukemia of ambiguous lineage" - "obsolete_deafness-infertility syndrome" "JK1107" "validation by reverse transcription PCR design" "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome" @@ -38980,10 +38984,10 @@ "level of annexin A13 in blood serum" "GM2 gangliosidosis" "aldehyde dehydrogenase, dimeric NADP-preferring measurement" + "apolipoprotein C measurement"@en "periosteum" "acute synovitis" "Tomato ringspot virus" - "apolipoprotein C measurement"@en "chromosome 18q deletion syndrome" "chloromethiuron measurement" "4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate" @@ -39051,8 +39055,8 @@ "level of probable E3 ubiquitin-protein ligase TRIML1 in blood serum" "obsolete_partial deletion of the long arm of chromosome 7" "Inherited congenital spastic tetraplegia" - "childhood adrenal gland pheochromocytoma" "obsolete_Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" + "childhood adrenal gland pheochromocytoma" "administrator" "fetal and adult testis-expressed transcript protein" "corticotropin" @@ -39117,8 +39121,8 @@ "obsolete_qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -" "ubiquitin thioesterase OTUB2" "obsolete_46,XY ovotesticular disorder of sex development" - "(R)-lactic acid" "zinc finger protein 10" + "(R)-lactic acid" "nemaline myopathy 5" "spondylometaphyseal dysplasia, Czarny-Ratajczak type" "Hydrocephalus - blue sclerae - nephropathy" @@ -39138,8 +39142,8 @@ "obsolete_trisomy 9p" "ovarian papillary tumor" "polyribonucleotide nucleotidyltransferase 1, mitochondrial" - "resting double-positive thymocyte" "C3HeB/FeJ"@en + "resting double-positive thymocyte" "3-Indolepropionic acid to 3,3',5-Triiodo-L-thyronine ratio" "meningococcemia" "level of UTP--glucose-1-phosphate uridylyltransferase in blood serum" @@ -39213,8 +39217,8 @@ "basement membrane-specific heparan sulfate proteoglycan core protein" "ascorbic acid 3-sulfate measurement" "interleukin-5" - "level of Rho guanine nucleotide exchange factor 2 in blood serum" "eye hemorrhage" + "level of Rho guanine nucleotide exchange factor 2 in blood serum" "Broad forehead" "ATC Code D Dermatologicals" "level of gastric inhibitory polypeptide in blood" @@ -39279,8 +39283,8 @@ "triacylglycerol 56:3" "atrial septal defect, ostium primum type" "obsolete_nephrogenic syndrome of inappropriate antidiuresis" - "level of oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial in blood serum" "obsolete_congenital absence of both forearm and hand, unilateral" + "level of oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial in blood serum" "level of NTF2-related export protein 1 in blood serum" "Postaxial hand polydactyly" "multiple symmetric lipomatosis" @@ -39309,8 +39313,8 @@ "chemokine-like protein TAFA-3" "obsolete_autosomal dominant rhegmatogenous retinal detachment" "homer protein homolog 3" - "micropapillary urothelial carcinoma" "obsolete_autosomal recessive spastic paraplegia type 70" + "micropapillary urothelial carcinoma" "heptachlor epoxide measurement"@en "level of protein deltex-2 in blood" "dual specificity protein phosphatase 18" @@ -39333,10 +39337,10 @@ "level of E3 ubiquitin-protein ligase pellino homolog 1 in blood serum" "obsolete_Genetic dermis disorder" "X-21736 measurement" - "seasonal gut microbiome measurement" "large ribosomal subunit protein bL34m" "Coffin-Siris syndrome 12" "negative regulation of renal sodium excretion" + "seasonal gut microbiome measurement" "obsolete_Diamond-Blackfan anemia" "intellectual developmental disorder, autosomal recessive 74" "BolA-like protein 1" @@ -39392,8 +39396,8 @@ "beta-crystallin B2 measurement" "supratentorial ependymal tumor" "adult anaplastic ependymoma" - "congenital T-cell immunodeficiency" "Griscelli syndrome type 2" + "congenital T-cell immunodeficiency" "growth-regulated alpha protein measurement" "NMDA glutamate receptor activity" "lethal arteriopathy syndrome due to fibulin-4 deficiency" @@ -39452,12 +39456,12 @@ "myofibrillar myopathy 5" "Fibrolamellar Carcinoma" "obsolete midline interhemispheric variant of holoprosencephaly" - "disorder of pilosebaceous unit" + "Silver-Russell syndrome due to imprinting defect of 11p15" "umbelliferone sulfate measurement" + "disorder of pilosebaceous unit" "1-methylnicotinamide" "(5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol" "E3 ubiquitin-protein ligase RBBP6" - "Silver-Russell syndrome due to imprinting defect of 11p15" "gonorrhea" "gastric neuroendocrine neoplasm" "LAMB2-related infantile-onset nephrotic syndrome" @@ -39520,8 +39524,8 @@ "disease related to hematopoietic stem cell transplant" "25-hydroxycholesterol" "Proximal muscle weakness in lower limbs" - "X-12830 measurement" "prevotella seropositivity" + "X-12830 measurement" "level of translation initiation factor IF-3, mitochondrial in blood serum" "sarcomatoid squamous cell carcinoma" "thymoma type B" @@ -39624,8 +39628,8 @@ "urea transporter 2 measurement" "ACC112" "Cole-Carpenter syndrome" - "spontaneous coronary artery dissection"@en "Clark level IV" + "spontaneous coronary artery dissection"@en "copper chaperone for superoxide dismutase" "level of CCAAT/enhancer-binding protein gamma in blood serum" "MT10430" @@ -39644,12 +39648,12 @@ "coloboma of optic nerve" "inhibitor of growth protein 1 measurement" "KGN cell" - "Purpura Fulminans" "X-linked myotubular myopathy" + "Purpura Fulminans" "level of sentrin-specific protease 7 in blood serum" "urea" - "pseudomonadaceae seropositivity" "Dermato-cardio-skeletal syndrome, Borrone type" + "pseudomonadaceae seropositivity" "phosducin-like protein 2" "transitional cell carcinoma of the corpus uteri" "prolyl 4-hydroxylase subunit alpha-1 measurement" @@ -39694,11 +39698,11 @@ "chloride intracellular channel protein 3" "chronic rapidly progressive glomerulonephritis" "infectious posterior uveitis" + "Glycogen storage disease due to glucose-6-phosphatase deficiency type b" "NH4_C36:2 DAG_or_TAG_fragment measurement" "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" "level of centrosomal protein of 41 kDa in blood serum" "tropomyosin alpha-1 chain measurement" - "Glycogen storage disease due to glucose-6-phosphatase deficiency type b" "legionnaire disease, susceptibility to" "quinolinate(1-)" "obsolete_oculocutaneous albinism type 4" @@ -39837,9 +39841,9 @@ "Lessel-Kreienkamp syndrome" "CD34-positive, CD38-positive common myeloid progenitor" "DEGCAGS syndrome" - "HG02852" "velopharyngeal dysfunction" "retinal ciliopathy" + "HG02852" "aldo-keto reductase family 1 member C1 measurement" "Y79" "T-lymphocyte surface antigen Ly-9 measurement" @@ -39936,8 +39940,8 @@ "alive with progressive disease" "Manduca sexta" "Lennox-Gastaut syndrome" - "delta-CEHC measurement" "MAD2L1-binding protein" + "delta-CEHC measurement" "obsolete excretory apparatus of the lacrimal system anomaly" "obsolete_Alzheimer's disease" "glycoprotein measurement" @@ -40034,9 +40038,9 @@ "Darier disease" "obsolete_autosomal recessive hereditary sensory and autonomic neuropathy" "disorder of defective peroxisome oxidative status" - "mercuric chloride measurement"@en "myeloid suppressor cell" "Tietze syndrome" + "mercuric chloride measurement"@en "polydactyly of a triphalangeal thumb, bilateral" "kainic acid" "level of protein deltex-3 in blood" @@ -40050,8 +40054,8 @@ "level of protein DPCD in blood serum" "extended oligoarticular juvenile idiopathic arthritis" "spermatogenic failure 18" - "level of leucine zipper protein 2 in blood" "obsolete_familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" + "level of leucine zipper protein 2 in blood" "response to mTOR inhibitor" "level of transmembrane protein 234 in blood serum" "single cell isolation protocol" @@ -40137,10 +40141,10 @@ "neurocristopathy" "mitochondrial complex 4 deficiency, nuclear type 17" "hemoglobin C disease" + "obsolete_pontocerebellar hypoplasia type 8" "Fibrous Hamartoma of Infancy" "epispadias" "tumor necrosis factor receptor superfamily member EDAR measurement" - "obsolete_pontocerebellar hypoplasia type 8" "benign paroxysmal tonic upgaze of childhood with ataxia" "1-methylguanidine measurement" "obsolete_autosomal recessive proximal renal tubular acidosis" @@ -40192,12 +40196,12 @@ "response to immunochemotherapy" "platelet-type bleeding disorder 9" "BolA-like protein 2" - "obsolete_pseudoaminopterin syndrome" "CUB and zona pellucida-like domain-containing protein 1 measurement" "GM06994" - "post-operative delirium" + "obsolete_pseudoaminopterin syndrome" "generalized epilepsy with febrile seizures plus, type 2" "Drosophila melanogaster" + "post-operative delirium" "GTP-binding protein SAR1a" "obsolete_benign partial epilepsy of infancy with complex partial seizures" "level of zinc finger protein 230 in blood serum" @@ -40357,11 +40361,11 @@ "muscle cell" "neuromedin-S" "VC199" - "diabetic ketoacidosis" "craniofacial tissue" "urotensin-2" "Meloidogyne graminicola" "amyloid beta precursor like protein 1" + "diabetic ketoacidosis" "level of low-density lipoprotein receptor-related protein 2 in blood serum" "glutamate receptor ionotropic, kainate 2" "adult Fanconi syndrome" @@ -40442,8 +40446,8 @@ "CORL279" "CS57620" "Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature" - "Genetic congenital limb malformation" "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency" + "Genetic congenital limb malformation" "SURF1-related Charcot-Marie-Tooth disease type 4" "obsolete_primary pigmented nodular adrenocortical disease" "level of translin in blood serum" @@ -40514,8 +40518,8 @@ "autism spectrum disorder due to AUTS2 deficiency" "eye injury" "tenascin-X" - "BG01" "ornithine carbamoyltransferase deficiency" + "BG01" "leucine-rich repeat and fibronectin type-III domain-containing protein 2" "sedoheptulokinase" "level of enoyl-CoA Delta isomerase 2 in blood serum" @@ -40559,8 +40563,8 @@ "ampulla of vater adenosquamous carcinoma" "NCI-H322T" "prolow-density lipoprotein receptor-related protein 1 measurement" - "obsolete_dorsal fin musculature" "protein MTSS 2" + "obsolete_dorsal fin musculature" "16-hydroxypalmitate measurement" "Disturbed sensory perception" "CD69-positive double-positive thymocyte" @@ -40603,12 +40607,12 @@ "CD82 molecule" "glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial" "Progressive encephalopathy" - "bifunctional polynucleotide phosphatase/kinase measurement" "level of izumo sperm-egg fusion protein 4 in blood" "level of annexin A11 in blood" "JVM3" "elafin measurement" "secretory carrier-associated membrane protein 3" + "bifunctional polynucleotide phosphatase/kinase measurement" "concentrated" "level of acyl-CoA-binding domain-containing protein 6 in blood serum" "NH4_C38:5 DAG_or_TAG_fragment measurement" @@ -40735,9 +40739,9 @@ "language disorder" "partial duplication of the short arm of chromosome 8" "GM25256" - "Rare male infertility due to testicular endocrine disorder" "immunoglobulin E measurement" "Mus musculus musculus x M. m. domesticus" + "Rare male infertility due to testicular endocrine disorder" "Methylmalonic acid measurement" "endolymphatic sac" "obsolete_dysplasia epiphysealis hemimelica" @@ -40765,8 +40769,8 @@ "JURKAT E-6.1 cell" "annexin A10" "abdominal fat cell number"@en - "lysophosphatidylethanolamine 22:6 measurement"@en "spleen" + "lysophosphatidylethanolamine 22:6 measurement"@en "obsolete AP4-related intellectual disability and spastic paraplegia" "ganglioside-induced differentiation-associated protein 1-like 1" "diencephalic astrocytomas" @@ -40815,8 +40819,8 @@ "encounter with health service for breast reconstruction following mastectomy" "hemojuvelin measurement" "lacrimal gland neoplasm" - "quinolinate measurement" "CD59 glycoprotein measurement" + "quinolinate measurement" "YTH domain-containing protein 1" "rapid kidney function decline" "level of advanced glycosylation end product-specific receptor in blood" @@ -40870,8 +40874,8 @@ "paroxysmal nocturnal hemoglobinuria 2" "level of syntenin-2 in blood serum" "obsolete_Parana hard-skin syndrome" - "obsolete_pronephros" "nystagmus 1, congenital, X-linked" + "obsolete_pronephros" "astrocytic tumor" "mouth neoplasm" "mitochondrial complex 4 deficiency, nuclear type 18" @@ -40916,9 +40920,9 @@ "alpha-N-acetylgalactosaminidase deficiency type 1" "regenerating islet-derived protein 3-alpha measurement" "sumo-conjugating enzyme UBC9 measurement" + "TTC549" "insulin-resistance syndrome type B" "Proximal tibial hypoplasia" - "TTC549" "Primrose syndrome" "3-Indolepropionic acid to Trimethylamine N-oxide ratio" "autoinflammatory disease, multisystem, with immune dysregulation, X-linked" @@ -40968,10 +40972,10 @@ "autosomal dominant polycystic liver disease" "KMS-26" "level of titin in blood serum" + "oral microbiome measurement"@en "selenoprotein F" "cilia- and flagella-associated protein 300" "level of Ras-related protein Rab-3C in blood serum" - "oral microbiome measurement"@en "Methanobrevibacter smithii" "UMP-CMP kinase measurement" "3-hydroxy-2-ethylpropionate measurement" @@ -41030,14 +41034,14 @@ "phosphatidylcholine diacyl C42:6 measurement" "stromal corneal pigmentation" "D-penicillamine" - "obsolete_torus lateralis" "level of protein phosphatase Slingshot homolog 3 in blood" "level of single Ig IL-1-related receptor in blood serum" "pancreas" + "obsolete_torus lateralis" "level of prefoldin subunit 4 in blood serum" "urolithiasis" - "obsolete_leukocyte adhesion deficiency type II" "methylcobalamin deficiency type cblG" + "obsolete_leukocyte adhesion deficiency type II" "alpha-ketoglutarate-dependent dioxygenase alkB homolog 3" "nicotinamide phosphoribosyltransferase measurement" "level of bridging integrator 2 in blood serum" @@ -41045,13 +41049,13 @@ "microphthalmia, isolated, with coloboma 10" "level of calcyphosin in blood" "regulator of G-protein signaling 3 measurement" - "diacylglycerol 32.2 measurement" "level of keratin, type II cytoskeletal 1 in blood" "dermatofibrosarcoma protuberans" "obsolete_digestive system component" "obsolete_embryonic central brain surface glia" "osteonecrosis of genetic origin" "urotensin-2B" + "diacylglycerol 32.2 measurement" "Hypernasal speech" "obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy" "obsolete_immunodeficiency with factor H anomaly" @@ -41071,8 +41075,8 @@ "stenosing tenosynovitis"@en "1,2,3-benzenetriol sulfate (2) measurement" "biotin" - "level of centromere protein V in blood serum" "T-complex protein 1 subunit alpha" + "level of centromere protein V in blood serum" "platelet-type bleeding disorder 11" "obsolete_muscular system" "Rubricyte Count" @@ -41252,20 +41256,20 @@ "obsolete acquired paroxysmal nocturnal hemoglobinuria" "level of lipocalin-1 in blood serum" "level of carbonic anhydrase 5B, mitochondrial in blood serum" - "3-hydroxyhippurate measurement" "beta-1,4-galactosyltransferase 2" + "3-hydroxyhippurate measurement" "microtubule-associated proteins 1A/1B light chain 3 beta 2" + "Spastic paraplegia-optic atrophy-neuropathy syndrome" "prostate and testis expressed protein 1 measurement" "filamin-A measurement" "Lupus Vasculitis, Central Nervous System" "intellectual disability, autosomal recessive 57" "delta-5 desaturase measurement" - "Spastic paraplegia-optic atrophy-neuropathy syndrome" + "margarate 17:0 measurement" + "Digital RNA" "oculocutaneous albinism type 8" "CD7-positive lymphoid progenitor cell" "Parkinson disease 24, autosomal dominant, susceptibility to" - "margarate 17:0 measurement" - "Digital RNA" "CD38-negative naive B cell" "receptor-type tyrosine-protein phosphatase H measurement" "omentin measurement"@en @@ -41281,8 +41285,8 @@ "RING finger protein 141" "urocortin-3" "triacylglycerol 56:6" - "Peritoneal Multicystic Mesothelioma" "Rare genetic thyroid disease" + "Peritoneal Multicystic Mesothelioma" "obsolete_atypical pantothenate kinase-associated neurodegeneration" "C3H"@en "L-Threonine to 3-Indolepropionic acid ratio" @@ -41300,8 +41304,8 @@ "congenital adrenal hyperplasia" "Sandhoff disease, adult form" "Carpenter syndrome" - "E3 ubiquitin-protein ligase HECW2" "obsolete_sirenomelia" + "E3 ubiquitin-protein ligase HECW2" "CD9 molecule" "autosomal recessive humeroradial synostosis" "jejunal neoplasm" @@ -41382,8 +41386,8 @@ "squamous papilloma" "beta-ureidopropionase" "level of methionine aminopeptidase 1D, mitochondrial in blood" - "glutaredoxin-1" "response to temozolomide" + "glutaredoxin-1" "4-hydroxy-2-oxoglutarate aldolase, mitochondrial" "maternal uniparental disomy of chromosome 2" "obsolete_precentral gyrus" @@ -41419,12 +41423,13 @@ "melphalan" "obsolete persistent combined dystonia" "annexin A11" + "heart shape trait" "Genetic renal tubular disease" "ascending colon cancer" - "La Crosse virus" "obsolete_partial duplication of the long arm of chromosome 17" - "melanoma staging" + "La Crosse virus" "gap junction delta-2 protein measurement" + "melanoma staging" "cytological, histological or immunological finding" "ubiquitin-conjugating enzyme E2 W" "Rett syndrome" @@ -41442,8 +41447,8 @@ "psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome" "level of dipeptidase 2 in blood serum" "shell of nucleus accumbens" - "obsolete partial trisomy of the short arm of chromosome 9" "response to ketamine" + "obsolete partial trisomy of the short arm of chromosome 9" "Oryza sativa" "clindamycin" "Myoinositol measurement" @@ -41556,8 +41561,8 @@ "serum ceruloplasmin measurement" "Liberfarb syndrome" "rib fracture" - "compound library" "Hemoglobin Lepore to Total Hemoglobin Ratio Measurement" + "compound library" "obsolete_Moyamoya disease" "mannosyl-oligosaccharide 1,2-alpha-mannosidase IB" "mexiletine" @@ -41616,8 +41621,8 @@ "postcranial axial skeleton" "level of alpha-tocopherol transfer protein-like in blood serum" "Braddock-Carey syndrome" - "nighttime rest measurement" "interferon beta 1" + "nighttime rest measurement" "spinal atrophy-ophthalmoplegia-pyramidal syndrome" "leukodystrophy, childhood-onset, remitting" "response to tamoxifen" @@ -41646,13 +41651,13 @@ "Proximal muscle weakness in upper limbs" "HG03432" "level of cadherin-13 in blood serum" - "obsolete_familial congenital mirror movements" "gastric leiomyoma" + "obsolete_familial congenital mirror movements" "muscarinic acetylcholine receptor M1" "level of guanidinoacetate N-methyltransferase in blood" "Intervertebral disk degeneration" - "sodium atom" "Mast Cell Neoplasm" + "sodium atom" "lymphoid hemopathy" "squamous cell skin papilloma" "level of ER degradation-enhancing alpha-mannosidase-like protein 2 in blood serum" @@ -41699,10 +41704,10 @@ "HS-27A" "Dysmorphism - short stature - deafness - disorder of sex development" "distal monosomy 10p" - "5-sulfo-13-benzenedicarboxylic acid measurement" "atrial conduction disease" "GM17197" "neuritis" + "5-sulfo-13-benzenedicarboxylic acid measurement" "response to trauma exposure" "rhabdomyosarcoma" "mitochondrial complex 4 deficiency, nuclear type 19" @@ -41728,8 +41733,8 @@ "optic tract meningioma" "Leukocyte adhesion deficiency type III" "arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development" - "nidogen-2 measurement" "Lip pit" + "nidogen-2 measurement" "level of threonine--tRNA ligase 1, cytoplasmic in blood" "obsolete_fountain syndrome" "histone deacetylase 9" @@ -41739,11 +41744,11 @@ "level of calsequestrin-2 in blood" "obsolete_16p13.11 microduplication syndrome" "syndromic multisystem autoimmune disease due to ITCH deficiency" + "obsolete_combined oxidative phosphorylation defect type 13" "alpha-N-acetylgalactosaminidase deficiency type 2" "obsolete avascular necrosis of genetic origin" "sapropterin dihydrochloride" "level of keratin, type I cytoskeletal 14 in blood" - "obsolete_combined oxidative phosphorylation defect type 13" "diastolic heart failure" "regulator of microtubule dynamics protein 3 measurement" "taurodeoxycholic acid 3-sulfate measurement" @@ -41780,9 +41785,9 @@ "immunoglobulin mu Fc receptor" "ribonucleoside triphosphate biosynthetic process" "Non-eruption of teeth - maxillary hypoplasia - genu valgum" - "ruminococcaceae seropositivity" "lobar intracerebral hemorrhage"@en "infantile axonal neuropathy" + "ruminococcaceae seropositivity" "pediatric CNS choriocarcinoma" "guided entry of tail-anchored proteins factor CAMLG" "organism status design" @@ -41800,8 +41805,8 @@ "surfeit locus protein 1" "Pseudofolliculitis barbae" "complement component C1q receptor measurement" - "rhinoscleroma" "Autosomal recessive early-onset inflammatory bowel disease" + "rhinoscleroma" "selenide, water dikinase 1" "menarche" "bilateral frontoparietal polymicrogyria" @@ -41843,10 +41848,10 @@ "obsolete_Autosomal recessive syndromic optic atrophy" "iron ion homeostasis" "obsolete_Robinow syndrome" - "Familial retinoblastoma" "gamma-aminobutyric acid receptor-associated protein-like 1" "hydrarthrosis" "bone measurement" + "Familial retinoblastoma" "tax1-binding protein 3 measurement" "3-Indolepropionic acid to Myoinositol ratio" "microtia" @@ -41888,8 +41893,8 @@ "level of microtubule nucleation factor SSNA1 in blood" "Alagille syndrome due to a JAG1 point mutation" "obsolete_myelocystocele" - "pemphigus" "ABetaL34V amyloidosis" + "pemphigus" "lead atom" "coloboma of choroid and retina" "obsolete_X and Y chromosomal anomaly" @@ -41903,8 +41908,8 @@ "ChIRP" "1,2-dilinoleoyl-GPC (18:2/18:2) measurement" "bronchiole" - "immature dendritic epithelial T cell precursor" "cholesteryl esters to total lipids in small VLDL percentage " + "immature dendritic epithelial T cell precursor" "sweat gland" "karyomegalic interstitial nephritis" "CyT49" @@ -42014,8 +42019,8 @@ "transcription regulator protein BACH2 measurement" "metastatic malignant neoplasm" "obsolete_microcephalic primordial dwarfism, Alazami type" - "gonococcal prostatitis" "delta and Notch-like epidermal growth factor-related receptor measurement" + "gonococcal prostatitis" "obsolete_neural arch" "conjunctival tumor" "cardiolipin IgA antibody measurement" @@ -42093,8 +42098,8 @@ "antidepressant-induced hearing impairment" "obsolete_Ulbright-Hodes syndrome" "alpha-1,3/1,6-mannosyltransferase ALG2" - "anatomical system" "small cell carcinoma" + "anatomical system" "Sjogren-Larsson syndrome" "ND00022" "aryl hydrocarbon receptor nuclear translocator" @@ -42133,8 +42138,8 @@ "focal epithelial hyperplasia" "obsolete digestive tract malformation" "Dacryocystitis - osteopoikilosis" - "level of bifunctional purine biosynthesis protein ATIC in blood serum" "methyltestosterone" + "level of bifunctional purine biosynthesis protein ATIC in blood serum" "partial duplication of the short arm of chromosome 10" "Kv channel-interacting protein 4" "obsolete_Lowry-Wood syndrome" @@ -42229,8 +42234,8 @@ "autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain" "hyperlipidemia" "Abnormal toenail morphology" - "obsolete_Caucasian" "response to nivolumab"@en + "obsolete_Caucasian" "Spinocerebellar ataxia type 42" "phenol sulfate measurement" "hyperargininemia" @@ -42256,10 +42261,10 @@ "caveolin-2" "phosphatidylcholine acyl-alkyl C36:2 measurement" "severe combined immunodeficiency due to CORO1A deficiency" - "palmitoleoyl-arachidonoyl-glycerol (16:1/20:4) [2] measurement" "maternal uniparental disomy of chromosome 4" "obsolete_tepal" "foot and mouth disease" + "palmitoleoyl-arachidonoyl-glycerol (16:1/20:4) [2] measurement" "endophenotype" "lymphoproliferative syndrome 1" "Cryptococcus neoformans" @@ -42280,8 +42285,8 @@ "dyschromatosis symmetrica hereditaria" "subphrenic abscess" "Proximal spinal muscular atrophy type 2" - "H0287" "ragulator complex protein LAMTOR3 measurement" + "H0287" "level of ETS domain-containing protein Elk-3 in blood serum" "level of syntaphilin in blood serum" "toxicity" @@ -42315,9 +42320,9 @@ "persistent Staphylococcus aureus carrier status" "level of insulin-like growth factor-binding protein 3 in blood serum" "Gingival fibromatosis - progressive deafness" - "obsolete_Huntington disease-like syndrome due to C9ORF72 expansions" "jejunal neuroendocrine tumor, well differentiated, low or intermediate grade" "coatomer subunit epsilon" + "obsolete_Huntington disease-like syndrome due to C9ORF72 expansions" "obsolete_autosomal recessive Emery-Dreifuss muscular dystrophy" "cytochrome p450 3a4 measurement" "obsolete_polydactyly of a triphalangeal thumb, bilateral" @@ -42346,12 +42351,12 @@ "Ectocarpus" "level of GTPase IMAP family member 4 in blood serum" "hereditary renal cell carcinoma" - "Carcinoma, Lewis Lung" "Dermacentor andersoni" + "Carcinoma, Lewis Lung" "guanidinosuccinate measurement" "leaf mesophyll" - "obsolete_renal cortex" "PROM1-related recessive retinopathy" + "obsolete_renal cortex" "level of ankyrin repeat domain-containing protein 54 in blood" "classic multiminicore myopathy" "acrodermatitis chronica atrophicans" @@ -42423,8 +42428,8 @@ "overgrowth syndrome" "RBBS" "level of adenylosuccinate synthetase isozyme 1 in blood serum" - "calcinosis" "5(6)-pentyl-14-dioxan-2-one measurement" + "calcinosis" "obsolete_response to carbamazepine" "CS57823" "disorder of GPI anchor biosynthesis" @@ -42504,9 +42509,9 @@ "decreased cardiac output" "O-3-methylglutarylcarnitine" "D721Med" + "Dilated cardiomyopathy - hypergonadotropic hypogonadism" "Malignant Paraganglioma" "protein NDRG3" - "Dilated cardiomyopathy - hypergonadotropic hypogonadism" "disintegrin and metalloproteinase domain-containing protein 9 measurement" "Trichophyton rubrum" "familial omphalocele syndrome with facial dysmorphism" @@ -42526,15 +42531,15 @@ "obsolete_heart-hand syndrome type 2" "HCC1171" "hereditary sebaceous gland anomaly" - "obsolete_X-linked recessive optic atrophy" "ATP-citrate synthase measurement" "4p16.3 microduplication syndrome" + "obsolete_X-linked recessive optic atrophy" "obsolete_hypotonia with lactic acidemia and hyperammonemia" "Unilateral renal hypoplasia" "level of small integral membrane protein 13 in blood serum" "medullary thyroid gland carcinoma" - "GM17251" "Thrombocytopenia - absent radius" + "GM17251" "tenascin-X measurement" "5C" "1-methylhistamine measurement" @@ -42549,12 +42554,12 @@ "obsolete_isolated trigonocephaly" "bombay phenotype"@en "uterine carcinoma" - "obsolete_ulnar hemimelia" "obsolete_autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis" "obsolete_hyperlipidemia due to hepatic triglyceride lipase deficiency" "nutritionally-regulated adipose and cardiac enriched protein homolog" "level of probable G-protein coupled receptor 101 in blood serum" "level of alanyl-tRNA editing protein Aarsd1 in blood" + "obsolete_ulnar hemimelia" "GM14504" "transcription profiling by NanoString" "Copenhagen" @@ -42583,8 +42588,8 @@ "clcn4-related disorder" "embryonic corpus allatum" "obsolete osteochondrosis of genetic origin" - "GM12891" "1-stearoyl-2-oleoyl-GPC (18:0/18:1) measurement" + "GM12891" "CIP-TAP" "level of voltage-gated potassium channel KCNF1 in blood serum" "leiomyoma" @@ -42604,13 +42609,13 @@ "infantile Krabbe disease" "hepatocyte nuclear factor 4-alpha" "Syndromic genetic deafness" - "biological_process" "obsolete_episodic ataxia type 3" + "biological_process" "interleukin-12 subunit alpha" "obsolete_disorder of carbohydrate absorption and transport" "shoulder impingement syndrome" - "total RNA" "response to rhododendrol"@en + "total RNA" "cortolone glucuronide (1) measurement" "level of microfibrillar-associated protein 3-like in blood serum" "nodal marginal zone B-cell lymphoma" @@ -42624,21 +42629,21 @@ "level of polypeptide N-acetylgalactosaminyltransferase 14 in blood serum" "insulin-like growth factor-binding protein 2 measurement" "obsolete_autosomal dominant vitreoretinochoroidopathy" - "Partial deletion of the short arm of chromosome 4" "multiple congenital anomalies-hypotonia-seizures syndrome" + "Partial deletion of the short arm of chromosome 4" "obsolete_Mowat-Wilson syndrome due to monosomy 2q22" "social anxiety disorder" "serine/threonine-protein kinase LATS1" "46,XX disorder of sex development - anorectal anomalies" "myoclonic epilepsy, juvenile, susceptibility to, 1" "non-lobar intracerebral hemorrhage"@en - "obsolete_hypokalemic periodic paralysis" "salmonella seropositivity" - "cinnamoylglycine measurement" + "obsolete_hypokalemic periodic paralysis" "angiokeratoma of Fordyce" "Jaberi-Elahi syndrome" "KH domain-containing protein 3-like" "sex design" + "cinnamoylglycine measurement" "X-linked dystonia-parkinsonism" "forkhead box protein J2 measurement" "Lymphoma, AIDS-Related" @@ -42851,10 +42856,10 @@ "neonatal-onset encephalopathy with rigidity and seizures" "plexiform neurofibroma" "obsolete qualitative or quantitative defects of integrin alpha-7" - "Limb overgrowth" "N-Acetyl-L-tyrosine measurement" "Epiphyseal dysplasia - hearing loss - dysmorphism" "level of telomeric repeat-binding factor 1 in blood" + "Limb overgrowth" "obsolete_Cole-Carpenter syndrome" "Tuber melanosporum" "neurodegeneration with ataxia and late-onset optic atrophy" @@ -42866,14 +42871,14 @@ "protein-lysine N-methyltransferase EEF2KMT" "epidermal growth factor receptor substrate 15-like 1 measurement" "pantothenic acid" - "physical activity" "oleoyl-linoleoyl-glycerol (18:1/18:2) [2] measurement" + "physical activity" "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 measurement" "respiratory toxicity" "Methanococcus" "obsolete_presumptive pronephric mesoderm" - "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" "mitotic checkpoint serine/threonine-protein kinase BUB1 measurement" + "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" "Charcot-Marie-Tooth disease type 2B" "skin pigmentation disorder" "autism, susceptibility to, 10" @@ -42926,8 +42931,8 @@ "obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin" "obsolete_Ichthyosis - hypotrichosis - sclerosing cholangitis" "Metabolic disease with skin involvement" - "spondylometaphyseal dysplasia, A4 type" "1-(1-enyl-stearoyl)-2-arachidonoyl-GPE (P-18:0/20:4) measurement" + "spondylometaphyseal dysplasia, A4 type" "BMP-binding endothelial regulator protein measurement" "Childhood onset" "obsolete autosomal recessive lymphoproliferative disease" @@ -42996,8 +43001,8 @@ "Bowen disease of the skin" "end bias" "level of 18S rRNA aminocarboxypropyltransferase in blood serum" - "3',5'-cyclic-AMP phosphodiesterase 4C" "obsolete_ring chromosome Y" + "3',5'-cyclic-AMP phosphodiesterase 4C" "MME-related autosomal dominant Charcot Marie Tooth disease type 2" "Sparse eyebrow" "glutathione-requiring prostaglandin D synthase" @@ -43053,8 +43058,8 @@ "obsolete_Charcot-Marie-Tooth disease type 2B1" "matrix metalloproteinase-20" "Sensorineural deafness with dilated cardiomyopathy" - "obsolete_congenital pseudoarthrosis of the limbs" "pipecolate" + "obsolete_congenital pseudoarthrosis of the limbs" "zona pellucida sperm-binding protein 3" "obsolete_bilateral polymicrogyria" "thiamin pyrophosphokinase 1 measurement" @@ -43214,8 +43219,8 @@ "intertrigo" "integrin alpha-4" "cervical polyp" - "rapidly progressive glomerulonephritis" "acrokeratosis verruciformis" + "rapidly progressive glomerulonephritis" "obsolete_congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency" "rag2 deficiency" "HeLa M" @@ -43253,8 +43258,8 @@ "decreased anxiety-related response" "level of G-protein coupled receptor 135 in blood serum" "neutrophil cytosol factor 2 measurement" - "Mitochondrial inheritance" "level of PRA1 family protein 3 in blood serum" + "Mitochondrial inheritance" "level of Phosphatidylethanolamine (O-18:1_18:2) in blood serum" "high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor" "Pachycladon" @@ -43297,8 +43302,8 @@ "level of microfibrillar-associated protein 5 in blood serum" "level of interleukin-1 family member 10 in blood serum" "cataract 13 with adult I phenotype" - "DNA topoisomerase 2-binding protein 1 measurement" "glycogenin-2" + "DNA topoisomerase 2-binding protein 1 measurement" "tryptophan--tRNA ligase, mitochondrial" "level of sorting and assembly machinery component 50 in blood serum" "phosphatidylcholine acyl-alkyl C32:2 measurement" @@ -43487,8 +43492,8 @@ "RNA-binding protein Nova-1" "mitochondrial disease" "obsolete_ring chromosome 9" - "obsolete_BE2C" "GM12864" + "obsolete_BE2C" "blood citramalate measurement" "cylindrical spirals myopathy" "skeletal defects, genital hypoplasia, and intellectual disability" @@ -43560,8 +43565,8 @@ "anauxetic dysplasia 3" "stromal cell of lamina propria of large intestine" "survival of motor neuron-related-splicing factor 30" - "bombesin receptor-activated protein C6orf89 measurement" "KG1" + "bombesin receptor-activated protein C6orf89 measurement" "coronary artery bypass" "body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency" "paraplegia" @@ -43585,11 +43590,11 @@ "ADP-ribosylation factor-like protein 9" "sialidosis type 2" "renal alpha-intercalated cell" - "Mucopolysaccharidosis with skin involvement" "mitotic spindle assembly checkpoint protein MAD1 measurement" - "Autosomal dominant spastic paraplegia type 31" + "Mucopolysaccharidosis with skin involvement" "MDAMB157" "intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies" + "Autosomal dominant spastic paraplegia type 31" "1-(1-enyl-palmitoyl)-2-docosahexaenoyl-GPE (P-16:0/22:6) measurement" "brachydactyly type A7" "Alymphoid cystic thymic dysgenesis" @@ -43624,11 +43629,11 @@ "MAGUK p55 subfamily member 7" "transmembrane protein 132D measurement" "obsolete idiopathic and/or familial pulmonary arterial hypertension" + "15q11.2 microdeletion syndrome" + "tooth disease" "level of tryptophan--tRNA ligase, mitochondrial in blood serum" "carotid artery occlusion" - "15q11.2 microdeletion syndrome" "U3118MG" - "tooth disease" "obsolete rare female infertility due to adrenal disorder of genetic origin" "Blau syndrome" "Fanconi anemia complementation group I" @@ -43636,17 +43641,17 @@ "necrotizing vasculitis" "Ustilago maydis" "vulvar granular cell tumor" - "level of osteocrin in blood serum" "leukoencephalopathy, porphyria-related" + "level of osteocrin in blood serum" "lymphoproliferative syndrome" "blindness (disorder)" "pituitary tumor" "Ovarian Embryonal Carcinoma" "ureter urothelial carcinoma" - "Cholestasis-lymphedema syndrome" "obsolete_partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome" - "urachus cancer" + "Cholestasis-lymphedema syndrome" "obsolete_methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency" + "urachus cancer" "obsolete_ssMCF7" "Hereditary cerebral hemorrhage with amyloidosis, Arctic type" "phosphatidylcholine acyl-alkyl C36:4 measurement" @@ -43690,19 +43695,19 @@ "hypoxemia" "microcephaly-brain defect-spasticity-hypernatremia syndrome" "definitive endoderm" + "nose injury" "obsolete_liver (Rattus norvegicus)" "neoplasm of mature B-cells" - "nose injury" "brachydactyly-arterial hypertension syndrome" "sphingomyeline C26:0 measurement" "ring chromosome 1" "Genetic renal tumor" "Cleidocranial dysplasia and isolated cranial ossification defect" "BNP measurement" + "level of MHC class I histocompatibility antigen A alpha chain in blood" "eugenol" "X-linked intellectual disability, Schimke type" "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3" - "level of MHC class I histocompatibility antigen A alpha chain in blood" "level of mitogen-activated protein kinase kinase kinase kinase 5 in blood" "metachromatic leukodystrophy, juvenile form" "anaplastic oligoastrocytoma" @@ -43753,8 +43758,8 @@ "dynactin subunit 6" "fC-CET" "annexin A3" - "mental development measurement" "phosphatidylcholine 34:1 measurement"@en + "mental development measurement" "synovial bursa" "Aicardi-Goutieres syndrome 7" "dentary" @@ -43813,8 +43818,8 @@ "1-linoleoylglycerol 1-monolinolein measurement" "partial deletion of chromosome 8" "cystic lymphangioma" - "ficolin-3 measurement" "blastemal cell" + "ficolin-3 measurement" "DF5033" "roundabout homolog 1" "congenital hereditary endothelial dystrophy type I" @@ -43887,8 +43892,8 @@ "level of cyclic AMP-responsive element-binding protein 3 in blood" "trichohepatoneurodevelopmental syndrome" "level of T-cell leukemia/lymphoma protein 1B in blood" - "leucine-rich repeat LGI family member 3" "Werner syndrome" + "leucine-rich repeat LGI family member 3" "Juvenile Myelomonocytic Leukemia" "polymyalgia rheumatica" "level of dickkopf-related protein 2 in blood serum" @@ -43958,8 +43963,8 @@ "level of CUB and sushi domain-containing protein 2 in blood serum" "Koolen-de Vries syndrome due to a point mutation" "CFTR mutation carrier status"@en - "global developmental delay with or without impaired intellectual development" "GM17132" + "global developmental delay with or without impaired intellectual development" "Sporisorium reilianum f. sp. zeae" "level of transmembrane protein PVRIG in blood serum" "glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1" @@ -44025,16 +44030,16 @@ "congenital nemaline myopathy" "carotid artery dissection" "obsolete_Revesz syndrome" - "obsolete_KBG syndrome" "level of histone-lysine N-methyltransferase ASH1L in blood serum" + "obsolete_KBG syndrome" "tyrosine kinase inhibitor" "Pipecolinic acid measurement" "obsolete_non-syndromic gastroduodenal malformation" "integrin beta-2" "Spinal cord injury" "myofibrillar myopathy, dominant"@en - "Nezelof syndrome" "glutathione S-transferase mu 4" + "Nezelof syndrome" "WW domain-binding protein 2" "CMLT1" "BMI-adjusted fasting blood insulin measurement" @@ -44051,8 +44056,8 @@ "CS57890" "beta-defensin 103" "HELLP syndrome" - "Ritter's disease" "sphingomyelin d18:1/24:1" + "Ritter's disease" "level of chordin-like protein 2 in blood serum" "26S proteasome non-ATPase regulatory subunit 5 measurement" "level of NFU1 iron-sulfur cluster scaffold, mitochondrial in blood serum" @@ -44284,8 +44289,8 @@ "East Texas bleeding disorder" "type 2 diabetes mellitus" "obsolete_vitamin B12- and folate-independent constitutional megaloblastic anemia" - "obsolete_partial deletion of chromosome 2" "checkup" + "obsolete_partial deletion of chromosome 2" "Livedo reticularis" "obsolete hypertelorism, Teebi type" "obsolete infantile neuroaxonal dystrophy" @@ -44293,9 +44298,9 @@ "blood circulation" "mediastinal extraskeletal osteosarcoma" "level of cytosolic Fe-S cluster assembly factor NUBP2 in blood serum" - "obsolete_Premature aging" "U3082MG" "obsolete female infertility due to an anomaly of ovarian function of genetic origin" + "obsolete_Premature aging" "1-(1-enyl-palmitoyl)-2-arachidonoyl-GPE (P-16:0/20:4) measurement" "obsolete_MDAMB-157" "GDNF family receptor alpha-like" @@ -44315,8 +44320,8 @@ "level of epididymal secretory glutathione peroxidase in blood serum" "level of protein phosphatase 1A in blood serum" "dual specificity protein phosphatase 10" - "C36:3 phosphatidylethanolamine plasmalogen measurement" "obsolete_primary syringomyelia" + "C36:3 phosphatidylethanolamine plasmalogen measurement" "Rare lacrimal system disease" "SPARC measurement" "obsolete_NPHP3-related Meckel-like syndrome" @@ -44419,8 +44424,8 @@ "Keratocystic odontogenic tumor" "Acetabular dysplasia" "obsolete_oculodentodigital dysplasia" - "MICOS complex subunit MIC26 measurement" "trigeminal neuralgia" + "MICOS complex subunit MIC26 measurement" "lipid localization" "obsolete_11p15.4 microduplication syndrome" "obsolete_sterile multifocal osteomyelitis with periostitis and pustulosis" @@ -44449,11 +44454,11 @@ "Prosthesis-Related Infections" "level of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 1 in blood serum" "obsolete_accelerated neurological senescence" - "left ventricular stroke volume measurement"@en "level of polycomb protein SCMH1 in blood serum" + "left ventricular stroke volume measurement"@en "obsolete_presumptive telencephalon" - "lamin-B1 measurement" "methionine-R-sulfoxide reductase B2, mitochondrial" + "lamin-B1 measurement" "level of lipoma-preferred partner in blood" "peeling skin syndrome type A" "Carey-Fineman-Ziter syndrome" @@ -44472,13 +44477,13 @@ "polyp of rectum" "obsolete_phosphoenolpyruvate carboxykinase deficiency" "small intestine diverticulitis" + "vulvar eccrine adenocarcinoma" "DnaJ homolog subfamily C member 18 measurement" "bone morphogenetic protein 10 measurement" - "vulvar eccrine adenocarcinoma" - "protein binding measurement"@en "Oxyhemoglobin to Total Hemoglobin Ratio Measurement" "level of interleukin-28 receptor alpha chain in blood serum" "obsolete_avelline corneal dystrophy" + "protein binding measurement"@en "junctional epidermolysis bullosa" "skin meningioma" "Long Evans"@en @@ -44502,9 +44507,9 @@ "level of a disintegrin and metalloproteinase with thrombospondin motifs 8 in blood" "obsolete_pontocerebellar hypoplasia type 3" "fibroblast growth factor 23 measurement" + "Plasmodium vivax malaria" "spindle cell intraocular melanoma" "X-linked endothelial corneal dystrophy" - "Plasmodium vivax malaria" "level of ezrin in blood serum" "level of glycolipid transfer protein domain-containing protein 2 in blood serum" "pyrenocyte" @@ -44647,8 +44652,8 @@ "1-oleoylglycerol 1-monoolein measurement" "family history of prostate cancer" "focal adhesion kinase 1 measurement" - "phosphatidylcholine 18:1 measurement" "level of RNA-binding protein 41 in blood serum" + "phosphatidylcholine 18:1 measurement" "abnormal lipolysis" "DF5018" "cAMP-dependent protein kinase catalytic subunit alpha measurement" @@ -44697,8 +44702,8 @@ "actin-binding protein WASF1" "median fin fold" "complement C1q and tumor necrosis factor-related protein 9A" - "Genetic respiratory malformation" "cathelicidin antimicrobial peptide" + "Genetic respiratory malformation" "Retinal degeneration - nanophthalmos - glaucoma" "sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase measurement" "obsolete_X-linked intellectual disability, Porteous type" @@ -44717,11 +44722,11 @@ "oxBS-Seq" "eccrine papillary adenoma" "angiopoietin-2 receptor measurement" - "obsolete_Angelman syndrome" "SHORT syndrome" "tricarboxylic acid cycle disorder" "Abnormal delivery" "hepatic methionine adenosyltransferase deficiency" + "obsolete_Angelman syndrome" "Chagas cardiomyopathy" "obsolete rare male infertility due to testicular endocrine disorder" "olfactory neurosphere cell line" @@ -44738,10 +44743,10 @@ "glycogen storage disease IXd" "obsolete_Glycogen storage disease due to liver glycogen phosphorylase deficiency" "39S ribosomal protein L33, mitochondrial measurement" - "maternal milk"@en "Alexa Fluor 647" "trigeminal schwannoma" "probable serine carboxypeptidase CPVL" + "maternal milk"@en "level of xylulose kinase in blood serum" "level of son of sevenless homolog 1 in blood serum" "throat disease" @@ -44762,8 +44767,8 @@ "negative regulation of circadian sleep/wake cycle, REM sleep" "level of casein kinase II subunit beta in blood serum" "obsolete_childhood-onset autosomal recessive myopathy with external ophthalmoplegia" - "obsolete_paramyotonia congenita of Von Eulenburg" "balanitis" + "obsolete_paramyotonia congenita of Von Eulenburg" "adult pineoblastoma" "acroosteolysis" "compound treatment design" @@ -44793,9 +44798,9 @@ "level of guanine nucleotide exchange factor VAV3 in blood serum" "level of phosphatidylethanolamine in blood serum" "acetoacetate measurement" + "obsolete_partial duplication of the short arm of chromosome 3" "level of syntaxin-binding protein 6 in blood serum" "prokaryotic cell" - "obsolete_partial duplication of the short arm of chromosome 3" "regulation of inflammatory response" "GM17133" "LAPC-9" @@ -44820,8 +44825,8 @@ "600MPE" "obsolete_isolated focal cortical dysplasia type Ia" "1,2-dipalmitoyl-GPC (16:0/16:0) measurement" - "integumental system" "gamma-glutamylleucine measurement" + "integumental system" "red color blindness" "(S)-azetidine-2-carboxylic acid" "Syracuse Low Avoidance" @@ -44866,8 +44871,8 @@ "Glucose intolerance" "immunodeficiency 78 with autoimmunity and developmental delay" "Autosomal recessive Charcot Marie Tooth disease type 2X" - "21q22.13q22.2 microdeletion syndrome" "partial duplication of chromosome 19" + "21q22.13q22.2 microdeletion syndrome" "glans penis cancer" "GTPase kras measurement" "level of interleukin-1 family member 9 in blood serum" @@ -44881,15 +44886,15 @@ "obsolete_oculocerebrorenal syndrome" "level of VPS10 domain-containing receptor SorCS3 in blood serum" "Treponema denticola" - "generalized dominant dystrophic epidermolysis bullosa" "sella turcica neoplasm" + "generalized dominant dystrophic epidermolysis bullosa" "exocyst complex component 7" "eosinophil disorder" "alpha-actinin-1" "obsolete_ring chromosome 11" + "1-lignoceroyl-GPC (24:0) measurement" "level of kelch-like protein 40 in blood serum" "breast large cell neuroendocrine carcinoma" - "1-lignoceroyl-GPC (24:0) measurement" "protocadherin gamma-A12" "Subcutaneous nodule" "leucine change measurement" @@ -44959,10 +44964,10 @@ "hexokinase-2 measurement" "Spinocerebellar atrophy" "kidney amyloid deposition measurement" - "Histophilus somni" "3q26q27 microdeletion syndrome" "purine nucleoside triphosphate biosynthetic process" "Saccharomyces boulardii" + "Histophilus somni" "otic lateral line neuromast" "combined immunodeficiency due to DOCK8 deficiency" "sphingomyelin (d18:1/19:0, d19:1/18:0) measurement" @@ -45018,8 +45023,8 @@ "Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial" "patched domain-containing protein 3 measurement" "level of Schlafen-like protein 1 in blood serum" - "T84" "regulator of microtubule dynamics protein 1 measurement" + "T84" "CDK5 regulatory subunit-associated protein 3" "Pseudomonas syringae pv. tomato" "level of cartilage acidic protein 1 in blood" @@ -45042,8 +45047,8 @@ "Smith-Lemli-Opitz syndrome" "urothelial carcinoma" "jejunal adenocarcinoma" - "protein disulfide isomerase CRELD2" "Progressive supranuclear palsy - progressive non fluent aphasia" + "protein disulfide isomerase CRELD2" "Elevated erythrocyte sedimentation rate" "level of loss of heterozygosity 11 chromosomal region 2 gene A protein in blood" "respiratory system" @@ -45079,8 +45084,8 @@ "obsolete_response to iloperidone" "bisphosphoglycerate mutase measurement" "Triticum dicoccoides" - "level of thioredoxin-like protein 4A in blood serum" "level of cysteine-rich PDZ-binding protein in blood serum" + "level of thioredoxin-like protein 4A in blood serum" "N-acetylneuraminate" "Dandy-Walker malformation - postaxial polydactyly" "level of sodium/potassium-transporting ATPase subunit beta-2 in blood serum" @@ -45141,9 +45146,9 @@ "SK-N-MC" "level of fetal and adult testis-expressed transcript protein in blood serum" "level of 14,15-dihydroxyeicosa-5,8,11-trienoic acid in blood plasma" + "complication" "glandular tularemia" "level of eukaryotic-type N-acetylglucosamine-6-phosphate deacetylase in blood" - "complication" "essential hypertension, genetic" "Progressive macrocephaly" "level of thyrotropin receptor in blood serum" @@ -45191,12 +45196,12 @@ "Populus balsamifera" "level of ceramide-1-phosphate transfer protein in blood" "ventral hyoid arch skeleton" + "level of interleukin-31 receptor A in blood serum" "isocitric acid" "spinocerebellar ataxia type 12" "vacuolar protein sorting-associated protein 4A" - "level of interleukin-31 receptor A in blood serum" - "level of methylated-DNA--protein-cysteine methyltransferase in blood serum" "atypical hypotonia-cystinuria syndrome" + "level of methylated-DNA--protein-cysteine methyltransferase in blood serum" "DnaJ homolog subfamily C member 27 measurement" "gap junction alpha-1 protein" "intellectual disability-hypotonia-skin hyperpigmentation syndrome" @@ -45345,12 +45350,12 @@ "obsolete rare familial disorder with hypertrophic cardiomyopathy" "obsolete_gnathodiaphyseal dysplasia" "prolyl 4-hydroxylase subunit alpha-2" - "protein S deficiency" "tyrosine-protein kinase transmembrane receptor ROR2 measurement" + "protein S deficiency" "Bos taurus" "Reticulocyte Corpuscular Hemoglobin Concentration Mean" - "obsolete_Blepharophimosis-Ptosis-Epicanthus inversus syndrome" "GM17275" + "obsolete_Blepharophimosis-Ptosis-Epicanthus inversus syndrome" "ATP-dependent Clp protease proteolytic subunit, mitochondrial" "sperm measurement"@en "protein LYRIC" @@ -45367,8 +45372,8 @@ "prostaglandin reductase 1" "obsolete hereditary syndromic Pierre Robin syndrome" "alpha-1-syntrophin" - "obsolete_polyploidy" "GM15226" + "obsolete_polyploidy" "partial deletion of chromosome 10" "bowel opening frequency" "follistatin-related protein 3 measurement" @@ -45400,9 +45405,9 @@ "psoriasis vulgaris" "gelsolin measurement" "lutein measurement" - "rectum leiomyoma" "obsolete_symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers" "PAIR" + "rectum leiomyoma" "BAG family molecular chaperone regulator 2" "Premature rupture of membranes" "Progeroid syndrome, Petty type" @@ -45411,8 +45416,8 @@ "Pear-shaped vertebrae" "Mucocutaneous venous malformations" "GM14569" - "Escherichia coli B str. REL606" "Neisseriaceae Infections" + "Escherichia coli B str. REL606" "DNA methylation"@en "17q11.2 microduplication syndrome" "sclera" @@ -45442,19 +45447,19 @@ "Thin calvarium" "hepatocyte growth factor measurement" "1-linoleoyl-sn-glycero-3-phosphocholine" + "E3 ubiquitin-protein ligase RNF13 measurement" "peroxisome proliferator-activated receptor gamma coactivator 1-alpha" "SNU387" - "E3 ubiquitin-protein ligase RNF13 measurement" "drinking behavior" "primary peritoneal carcinoma" "obsolete_Weissenbacher- Zweymuller syndrome" "Increased erythrocyte protoporphyrin concentration" "scChIP-seq" + "obsolete_Kandori fleck retina" "level of chondromodulin-1 in blood serum" "glossitis" "3-methylbenzyl alcohol" "cartilage oligomeric matrix protein" - "obsolete_Kandori fleck retina" "40S ribosomal protein S3a measurement" "Myc box-dependent-interacting protein 1" "level of neuroguidin in blood serum" @@ -45481,14 +45486,14 @@ "partial monosomy of the long arm of chromosome 10" "purine ribonucleoside triphosphate biosynthetic process" "level of chondroitin sulfate proteoglycan 4 in blood serum" - "broad ligament of uterus" "basophil adenoma" + "broad ligament of uterus" "MLO-Y4" "Solitary median maxillary central incisor" "1-adrenoyl-GPC (22:4) measurement" + "obsolete_mesomelic dysplasia, Savarirayan type" "obsolete_severe Canavan disease" "Silene latifolia" - "obsolete_mesomelic dysplasia, Savarirayan type" "Rare female infertility due to an anomaly of ovarian function of genetic origin" "Nascent-Seq" "GBA carrier status" @@ -45576,8 +45581,8 @@ "NCI-H1734" "level of histone deacetylase complex subunit SAP30L in blood serum" "obsolete_8p11.2 deletion syndrome" - "X-12189 measurement" "obsolete_TCR-alpha-beta-positive T-cell deficiency" + "X-12189 measurement" "serum galactose-deficient IgA1 measurement" "poly(A) RNA polymerase, mitochondrial" "Gerbera hybrid cultivar" @@ -45613,8 +45618,8 @@ "sarcoglycanopathy" "furosemide" "vaginal squamous papilloma" - "radiation quality treatment" "axonal hereditary motor and sensory neuropathy" + "radiation quality treatment" "Epiphora" "DNA repair protein RAD51 homolog 4" "level of polypeptide N-acetylgalactosaminyltransferase 9 in blood serum" @@ -45693,9 +45698,9 @@ "Clonus" "Ascites" "obsolete_malonic aciduria" - "polyarticular juvenile idiopathic arthritis, rheumatoid factor negative" "malignant teratoma of mediastinum" "level of histone deacetylase 2 in blood serum" + "polyarticular juvenile idiopathic arthritis, rheumatoid factor negative" "level of lysine-specific demethylase 4C in blood serum" "Avascular necrosis" "Ocular Melanoma with Extraocular Extension" @@ -45749,9 +45754,9 @@ "obsolete_hypopigmentation-punctate palmoplantar keratoderma syndrome" "tridihexethyl bromide measurement" "obsolete_Classic Mayer-Rokitansky-Küster-Hauser syndrome" - "Burkholderia Infections" "GH3 domain-containing protein" "benign eyelid neoplasm" + "Burkholderia Infections" "somite 14" "2-hydroxyarachidate measurement" "level of Phosphatidylcholine (18:1_0:0) in blood serum" @@ -45782,8 +45787,8 @@ "Gillichthys mirabilis" "benzo[a]pyrene diol epoxide I" "level of collagen triple helix repeat-containing protein 1 in blood" - "AG09877" "cholesteryl ester 20:3 measurement"@en + "AG09877" "Cerebellar vermis hypoplasia" "microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum" "serine/threonine-protein kinase ULK3 measurement" @@ -45831,9 +45836,9 @@ "N6-carboxymethyllysine measurement" "C-C motif chemokine 18 measurement" "p-Hydroxyphenyl acetic acid measurement" - "Dysostosis with combined reduction defects of upper and lower limbs" "hereditary acrokeratotic poikiloderma, Weary type" "acute retinal necrosis syndrome" + "Dysostosis with combined reduction defects of upper and lower limbs" "mosaic genome-wide paternal uniparental disomy" "obsolete_Amelogenesis imperfecta - nephrocalcinosis" "tooth hard tissue disease" @@ -45927,9 +45932,9 @@ "Abnormality of the cardiovascular system" "kynurenine 3-monooxygenase" "true unicornuate uterus" + "uncharacterized protein C22orf15 measurement" "5alpha-androstan-3alpha,17alpha-diol monosulfate measurement" "level of protein FAM50A in blood serum" - "uncharacterized protein C22orf15 measurement" "NCK-interacting protein with SH3 domain" "obsolete warfarin sensitivity, X-linked" "level of WD repeat-containing protein 26 in blood serum" @@ -45952,8 +45957,8 @@ "obsolete_congenital elbow dislocation" "cardiac germ cell tumor" "nitrogen atom" - "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis" "Microtia - eye coloboma - imperforation of the nasolacrimal duct" + "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis" "C-C motif chemokine 21 measurement" "trabecular meshwork" "level of thrombospondin type-1 domain-containing protein 1 in blood serum" @@ -45976,13 +45981,13 @@ "obsolete_familial juvenile hyperuricemic nephropathy type 1" "obsolete_autosomal recessive progressive external ophthalmoplegia" "phimosis" - "Lung Lymphangioleiomyomatosis" "ulnar-mammary syndrome" + "Lung Lymphangioleiomyomatosis" "mandibuloacral dysplasia with type B lipodystrophy" + "obsolete_catecholaminergic polymorphic ventricular tachycardia" "level of protein naked cuticle homolog 2 in blood serum" "level of DnaJ homolog subfamily C member 10 in blood serum" "posttemporal" - "obsolete_catecholaminergic polymorphic ventricular tachycardia" "Intestinal malrotation" "PIK3CA-related overgrowth syndrome" "brachydactyly-preaxial hallux varus syndrome" @@ -45995,9 +46000,9 @@ "fertility measurement" "tooth 3V" "obsolete_nodular neuronal heterotopia" - "pirin measurement" "intracellular cysteine homeostasis" "level of disks large homolog 2 in blood serum" + "pirin measurement" "level of ankyrin repeat domain-containing protein 27 in blood serum" "Mendelian susceptibility to mycobacterial diseases" "obsolete_cochlea structure" @@ -46012,12 +46017,12 @@ "tumor necrosis factor receptor superfamily member 25 measurement" "cleft lip/palate-intestinal malrotation-cardiopathy syndrome" "salt treatment" + "R-6-hydroxywarfarin measurement" "hereditary intrinsic factor deficiency" "X inactivation, familial skewed" - "R-6-hydroxywarfarin measurement" "Salmonella enterica subsp. enterica serovar Typhi" - "phosphatidylcholine O-38:0" "PBRM1-related BAFopathy" + "phosphatidylcholine O-38:0" "level of PAX-interacting protein 1 in blood serum" "level of epidermal growth factor receptor kinase substrate 8-like protein 2 in blood" "thyroglobulin measurement" @@ -46281,8 +46286,8 @@ "neurodevelopmental disorder with motor and speech delay and behavioral abnormalities" "synaptotagmin-2" "eukaryotic-type beta-galactosidase" - "Stroke" "5'(3')-deoxyribonucleotidase, cytosolic type measurement" + "Stroke" "adjustment disorder" "hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome" "TNF receptor-associated factor 2" @@ -46320,14 +46325,14 @@ "level of dynamin-3 in blood" "Bayreuth ecotype" "level of integrin alpha-L in blood serum" - "obsolete_isolated focal cortical dysplasia type IIa" - "carbohydrate sulfotransferase 6 measurement" "level of 39S ribosomal protein L28, mitochondrial in blood serum" - "Hydrocephalus - costovertebral dysplasia - Sprengel anomaly" + "carbohydrate sulfotransferase 6 measurement" + "obsolete_isolated focal cortical dysplasia type IIa" "estradiol 17-beta-dehydrogenase 2 measurement" "Bordetella pertussis" "rhombomere 5 floor plate" "Gaucher disease type III" + "Hydrocephalus - costovertebral dysplasia - Sprengel anomaly" "complement component 1 q subcomponent-binding protein, mitochondrial measurement" "level of dedicator of cytokinesis protein 2 in blood serum" "serine dehydratase-like" @@ -46335,8 +46340,8 @@ "demyelinating hereditary motor and sensory neuropathy" "mucopolysaccharidosis type 3C" "glycogen storage disease VIII" - "brachydactyly type E1" "X-linked intellectual disability-retinitis pigmentosa syndrome" + "brachydactyly type E1" "obsolete_autosomal dominant Charcot-Marie-Tooth disease type 2M" "ATPase family AAA domain-containing protein 2" "Partial deletion of the long arm of chromosome 18" @@ -46520,17 +46525,17 @@ "level of hepatoma-derived growth factor in blood serum" "level of thioredoxin reductase 1, cytoplasmic in blood serum" "autosomal dominant nonsyndromic hearing loss 28" - "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures" "lumbosacral plexus lesion" + "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures" "pneumothorax" "cholesteryl ester 20:4 measurement"@en "succinate dehydrogenase assembly factor 4, mitochondrial" "Cerebellar hypoplasia" "Abnormal thorax morphology" + "adrenal cortex carcinoma" "molybdopterin synthase catalytic subunit" "level of tectonic-2 in blood serum" "Populus tremula" - "adrenal cortex carcinoma" "Accessory ectopic thyroid tissue" "spinal meningioma" "obsolete_cerebellum" @@ -46663,16 +46668,16 @@ "Helicobacter pylori infectious disease" "keratoacanthoma" "tumor necrosis factor ligand superfamily member 6" - "nephritis" "tyrosine-protein kinase BLK" "pneumonia severity measurement" "focal epilepsy-intellectual disability-cerebro-cerebellar malformation" "Na(+)/H(+) exchange regulatory cofactor NHE-RF1" "Sphingomonas wittichii RW1" "erythrokeratoderma en cocardes" - "apolipoprotein A-I deficiency" + "nephritis" "neuronopathy, distal hereditary motor, autosomal recessive 4" "collagen alpha-1(XX) chain" + "apolipoprotein A-I deficiency" "X-13553 measurement" "brachydactyly type A1" "escherichia phage virus seropositivity" @@ -46697,20 +46702,20 @@ "obsolete_yolk sac" "benign neoplasm of pancreas" "level of 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9 in blood serum" + "Hyaluronidase deficiency" "hereditary pheochromocytoma-paraganglioma" "tubulin polymerization-promoting protein family member 3" "obsolete_caecum" "obsolete_ex vivo design" "Appendix Neuroendocrine Tumor G1" - "ovarian follicle stage I" - "Hyaluronidase deficiency" "obsolete_alpha-mannosidosis, infantile form" + "32D" + "ovarian follicle stage I" "KIF5" "fallopian tube cystadenofibroma" "X-11445--5-alpha-pregnan-3beta,20alpha-disulfate measurement" "response to immunosuppressant" "selenoprotein S" - "32D" "short ulna-dysmorphism-hypotonia-intellectual disability syndrome" "MDA-MB-330" "mitochondrial complex 4 deficiency, nuclear type 14" @@ -46748,11 +46753,11 @@ "lymphocyte of B lineage" "level of collagen alpha-1(V) chain in blood serum" "level of fibulin-2 in blood" - "RS-6-hydroxywarfarin measurement" - "aggressive insulitis" "docosatrienoate" + "aggressive insulitis" "obsolete_cherubism" "inherited hemoglobinopathy" + "RS-6-hydroxywarfarin measurement" "preprint" "insomnia" "obsolete_presumptive shield" @@ -46791,8 +46796,8 @@ "Limited shoulder movement" "Accommodative esotropia" "timepoint" - "Postnatal growth retardation" "obsolete_multiple congenital anomalies/dysmorphic syndrome-intellectual disability" + "Postnatal growth retardation" "intellectual developmental disorder, autosomal dominant 70" "inositol-tetrakisphosphate 1-kinase" "indole-3-butyric acid" @@ -46848,8 +46853,8 @@ "intestinal schistosomiasis" "Congenital erythropoietic porphyria" "oligodontia-cancer predisposition syndrome" - "thromboxane-A synthase" "isochorismatase domain-containing protein 1 measurement" + "thromboxane-A synthase" "A-kinase anchor protein 12" "X-06246 measurement" "procollagen galactosyltransferase 2 measurement" @@ -46862,9 +46867,9 @@ "SNU423" "pyloric antrum" "extraversion" - "orbit rhabdomyosarcoma" "eukaryotic translation initiation factor 2 subunit 2" "peeling skin syndrome 1" + "orbit rhabdomyosarcoma" "SCI-seq" "Zea mays subsp. parviglumis" "tumor necrosis factor receptor superfamily member 27 measurement" @@ -46873,8 +46878,8 @@ "2-hydroxyibuprofen measurement" "severe acute respiratory syndrome" "obsolete_benign childhood occipital epilepsy, Panayiotopoulos type" - "level of serine/threonine-protein kinase/endoribonuclease IRE1 in blood" "procollagen galactosyltransferase 1 measurement" + "level of serine/threonine-protein kinase/endoribonuclease IRE1 in blood" "preopercle" "distal 17p13.1 microdeletion syndrome" "growth condition" @@ -47032,8 +47037,8 @@ "congenital enterovirus infection" "methemoglobinemia" "HCASMC-hTERT"@en - "COLO668" "atypical juvenile parkinsonism" + "COLO668" "luminal B breast carcinoma" "obsolete_citrullinemia type I" "high content analysis of cells by molecular content" @@ -47284,9 +47289,9 @@ "disturbances of sensation of smell and taste" "level of GRAM domain-containing protein 2B in blood serum" "capillary leak syndrome" - "eicosapentaenoylcholine measurement" "Abnormality of the pancreatic islet cells" "blind loop syndrome" + "eicosapentaenoylcholine measurement" "level of methionine aminopeptidase 1D, mitochondrial in blood serum" "mucosa-associated lymphoid tissue" "level of nucleoplasmin-2 in blood serum" @@ -47353,8 +47358,8 @@ "neurogenic locus notch homolog protein 3 measurement" "familial dysfibrinogenemia" "1-palmitoleoyl-2-linoleoyl-sn-glycero-3-phosphocholine" - "material supplier" "level of signal transducer and activator of transcription 2 in blood" + "material supplier" "Trichophyton soudanense" "defensin alpha 5 (human)" "fourth ventricle volume measurement"@en @@ -47409,14 +47414,14 @@ "bronchial epithelial cell derived cell line" "hypothyroidism" "glycolipid transfer protein domain-containing protein 2" - "level of opticin in blood" "guanylyl cyclase-activating protein 1 measurement" + "level of opticin in blood" "Hemoglobin D to Total Hemoglobin Ratio Measurement" "neutrophil-to-lymphocyte ratio" "hepatoma cell line" + "obsolete_autosomal dominant progressive nephropathy with hypertension" "seed coat" "obsolete_Alagille syndrome" - "obsolete_autosomal dominant progressive nephropathy with hypertension" "purine-containing compound metabolic process" "regulation of ovulation" "Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy" @@ -47434,8 +47439,8 @@ "obsolete_idiopathic and/or familial pulmonary arterial hypertension" "CS57606" "dilated cardiomyopathy 1J" - "X-12104 measurement" "Tachypnea" + "X-12104 measurement" "obsolete_Fuchs' endothelial dystrophy" "dentin dysplasia type II" "Rare genetic developmental defect during embryogenesis" @@ -47459,9 +47464,9 @@ "level of fibrillin-2 in blood" "level of cAMP-dependent protein kinase type I-alpha regulatory subunit in blood" "thoracic aortic calcification measurement"@en + "anti-drug antibody measurement"@en "anaplastic astrocytoma" "Back pain" - "anti-drug antibody measurement"@en "level of protein SCO1, mitochondrial in blood serum" "syndromic X-linked intellectual disability 7" "Cyanothece" @@ -47476,8 +47481,8 @@ "OPA1-related optic atrophy with or without extraocular features" "trans fatty acid measurement" "obsolete_palmoplantar keratoderma, Nagashima type" - "obsolete_silver-Russell syndrome due to 7p11.2p13 microduplication" "obsolete_mild hyperphenylalaninemia" + "obsolete_silver-Russell syndrome due to 7p11.2p13 microduplication" "oculomucocutaneous syndrome"@en "ring chromosome 21" "glycoprotein metabolism disease" @@ -47590,12 +47595,12 @@ "U3 small nucleolar RNA-associated protein 6" "activated RNA polymerase II transcriptional coactivator p15" "obsolete_benign childhood occipital epilepsy, Gastaut type" + "obsolete_14q12 microdeletion syndrome" "S-7-hydroxywarfarin measurement" "central hypoventilation syndrome, congenital" "huntingtin-interacting protein 1-related protein" - "obsolete_14q12 microdeletion syndrome" - "E3 ubiquitin-protein ligase RNF13" "Shoulder and girdle defects - familial intellectual disability" + "E3 ubiquitin-protein ligase RNF13" "partial motor epilepsy" "obsolete_sex" "BEN domain-containing protein 6" @@ -47761,8 +47766,8 @@ "Female infertility due to an implantation defect of genetic origin" "viral myocarditis" "MRNA-capping enzyme measurement" - "WE-68" "level of zinc finger SWIM domain-containing protein 7 in blood serum" + "WE-68" "beta-defensin 108B" "icSHAPE" "glycosyl-N-palmitoyl-sphingosine (d18:1/16:0) measurement" @@ -47807,14 +47812,14 @@ "keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome" "Rapid Amplification of cDNA Ends" "level of NAD(P)H dehydrogenase [quinone] 1 in blood serum" - "Congenital and infantile nephrotic syndrome" "obsolete_thyrocerebrorenal syndrome" + "Congenital and infantile nephrotic syndrome" "level of sialomucin core protein 24 in blood" "coiled-coil domain-containing protein 69" "level of Fc receptor-like protein 1 in blood serum" "leucine-rich repeat-containing protein 37A2" - "hypochondroplasia" "ATC Code A Alimentary tract and metabolism" + "hypochondroplasia" "parasitic skin disorder" "Elevated circulating aspartate aminotransferase concentration" "level of junctophilin-1 in blood serum" @@ -47856,27 +47861,27 @@ "ubiquitin thioesterase OTU1" "amygdala reactivity measurement" "immunodeficiency 102" + "obsolete_nephronophthisis" "ampere" "level of complement C4-A in blood serum" - "obsolete_nephronophthisis" "TCR-alpha-beta-positive T-cell deficiency" "xeroderma pigmentosum group G" "level of gamma-secretase subunit PEN-2 in blood serum" - "Ring chromosome" "eukaryotic translation initiation factor 4 gamma 3 measurement" "Hi-0" "syndromic lymphedema" "SAFB-like transcription modulator" + "Ring chromosome" "impaired psychomotor skills"@en "KOLF2-C1"@en "obsolete_dementia" "developmental delay, impaired speech, and behavioral abnormalities" "alanine measurement" "synaptotagmin-4" + "obsolete_short rib dysplasia" "level of leucine-rich repeat LGI family member 3 in blood serum" "X-14205--alpha-glutamyltyrosine measurement" "15-hydroxyprostaglandin dehydrogenase [NAD(+)] measurement" - "obsolete_short rib dysplasia" "total lipids in small HDL measurement " "disorder of appendix" "dropped head syndrome" @@ -47901,13 +47906,13 @@ "2-Methylsuccinic acid measurement" "blood zinc measurement" "obsolete autosomal dominant secondary polycythemia" - "obsolete_generalized galactose epimerase deficiency" "prostatocystitis" "Plasmodium yoelii" "zygodactyly type 4" "1-stearoyl-2-oleoyl-sn-glycero-3-phosphocholine" "Genetic neurodegenerative disease" "level of decapping and exoribonuclease protein in blood" + "obsolete_generalized galactose epimerase deficiency" "digestive duplication cyst of the tongue" "retinal capillary malformation" "sphingosine kinase 2 measurement" @@ -48070,9 +48075,9 @@ "CD24-positive, CD4 single-positive thymocyte" "NOD/Shi"@en "level of sodium channel protein type 2 subunit alpha in blood" + "semenogelin-2 measurement" "environmental history" "frontal pole volume measurement"@en - "semenogelin-2 measurement" "Teebi-Shaltout syndrome" "cerebral cortex" "recoverin" @@ -48194,10 +48199,10 @@ "NCI-H1770" "interleukin 1 receptor-like 1 measurement" "6-phosphogluconate dehydrogenase, decarboxylating measurement" + "level of Wee1-like protein kinase 2 in blood serum" "Neuropathic spinal arthropathy" - "Micropenis" "protein NATD1" - "level of Wee1-like protein kinase 2 in blood serum" + "Micropenis" "BK-virus nephropathy" "level of pleckstrin homology domain-containing family O member 2 in blood" "cranial nerve" @@ -48216,9 +48221,9 @@ "Ngari virus" "Dwarfism - intellectual disability - eye abnormality" "WD repeat-containing protein 1 measurement" + "Atrophy" "combined immunodeficiency due to STK4 deficiency" "level of transcriptional activator protein Pur-beta in blood serum" - "Atrophy" "obsolete_brachydactyly type C" "central nervous system disease" "palladin" @@ -48273,18 +48278,18 @@ "parathion measurement"@en "pulse wave reflection index measurement" "obsolete_Aase-Smith syndrome" + "Macrocephaly - immune deficiency - anemia" "level of Triacylglycerol (49:2) in blood serum" "urinary schistosomiasis" "level of uncharacterized protein C1orf198 in blood serum" - "Macrocephaly - immune deficiency - anemia" "retinitis pigmentosa 76" "level of T cell immunoreceptor with Ig and ITIM domains in blood serum" "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome" "ribosyldihydronicotinamide dehydrogenase [quinone] measurement" "segment polarity protein dishevelled homolog DVL-2 measurement" - "3-hydroxyanthranilate 3;4-dioxygenase measurement" "level of annexin A9 in blood serum" "CS57610" + "3-hydroxyanthranilate 3;4-dioxygenase measurement" "X-12111 measurement" "autosomal dominant palmoplantar keratoderma and congenital alopecia" "pilar sheath acanthoma" @@ -48323,8 +48328,8 @@ "erythrocytosis, familial, 6" "level of breast cancer metastasis-suppressor 1-like protein in blood serum" "age related macular degeneration 11" - "transketolase deficiency" "5alpha-androstan-3alpha,17beta-diol monosulfate (1) measurement" + "transketolase deficiency" "intellectual developmental disorder, autosomal dominant 72" "triacylglycerol 58:9 measurement"@en "dengue virus, susceptibility to" @@ -48366,10 +48371,10 @@ "zinc finger CCHC domain-containing protein 17" "Pt45P1" "lipoid nephrosis" - "obsolete_karyomegalic interstitial nephritis" "OV56" "Uk-3" "Dickkopf-related protein 4 measurement" + "obsolete_karyomegalic interstitial nephritis" "lymphocyte:monocyte ratio" "BrdU-CLIP" "opisthorchiasis" @@ -48415,8 +48420,8 @@ "uric acid measurement" "meningeal sarcoma" "major vestibular gland" - "combined oxidative phosphorylation deficiency 46" "hereditary sensory and autonomic neuropathy with deafness and global delay" + "combined oxidative phosphorylation deficiency 46" "substantia propria of cornea" "level of fatty acid-binding protein, intestinal in blood" "radiologic finding" @@ -48427,9 +48432,9 @@ "epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive" "obsolete_short stature due to GHSR deficiency" "vanillylmandelate (VMA) measurement" - "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome" "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability" "level of testis-expressed protein 101 in blood" + "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome" "renal adenoma" "cytochrome b5 reductase 4" "complement receptor type 2" @@ -48440,8 +48445,8 @@ "spongiotic dermatitis" "obsolete_qualitative or quantitative defects of beta-myosin heavy chain (MYH7)" "Striae distensae" - "Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes" "indole-3-acetic acid" + "Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes" "level of RAB6-interacting golgin in blood serum" "lung neoplasm" "ERO1-like protein beta" @@ -48486,8 +48491,8 @@ "intellectual developmental disorder, autosomal dominant 67" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2A" "familial thyroid dyshormonogenesis" - "TBP-71Q-16" "Hirschsprung disease-type D brachydactyly syndrome" + "TBP-71Q-16" "docosahexaenoylcarnitine (C22:6) measurement" "obsolete_megalencephaly-capillary malformation-polymicrogyria syndrome" "obsolete_caudal division of the internal carotid artery" @@ -48509,10 +48514,10 @@ "protein kinase c gamma type measurement" "level of N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D in blood serum" "exudative vitreoretinopathy 2, X-linked" - "obsolete_lathosterolosis" "oral submucous fibrosis" - "obsolete_SHORT syndrome" + "obsolete_lathosterolosis" "Holzgreve-Wagner-Rehder syndrome" + "obsolete_SHORT syndrome" "Charcot-Marie-Tooth disease type 4G" "vaginal adenocarcinoma" "level of adenosylhomocysteinase in blood" @@ -48536,9 +48541,9 @@ "phosphatidylcholine 32:2" "HIV viral set point measurement" "obsolete_EDICT syndrome" - "congenital indifference to pain"@en "rheumatic myocarditis" "plant structure" + "congenital indifference to pain"@en "adrenoleukodystrophy" "Fanconi anemia complementation group Q" "level of uncharacterized protein C12orf76 (human) in blood serum" @@ -48556,11 +48561,11 @@ "obsolete_adult muscle precursor primordium" "methanol" "CD71-low, GlyA-positive polychromatic erythroblast" - "platelet-type bleeding disorder 19" "ATC Classification System" + "platelet-type bleeding disorder 19" "central nervous system melanocytic neoplasm" - "Methanococcoides burtonii" "obsolete_endosperm" + "Methanococcoides burtonii" "orbit neoplasm" "obsolete_Noonan syndrome and Noonan-related syndrome" "thiamine-triphosphatase" @@ -48915,9 +48920,9 @@ "gamma-glutamyltryptophan measurement" "negative regulation of gastric emptying" "cholesteryl esters to total lipids in large VLDL percentage " + "4-hydroxyanigorootin measurement" "Coronary Restenosis" "obsolete_ciliary marginal zone" - "4-hydroxyanigorootin measurement" "level of protein phosphatase 1M in blood serum" "hepatopancreatic ampulla" "Anisometropia" @@ -49021,8 +49026,8 @@ "DNase Hi-C" "brain stem astrocytic neoplasm" "hypomyelinating leukodystrophy 2" - "level of coagulation factor VII in blood" "pentachlorophenol measurement"@en + "level of coagulation factor VII in blood" "level of brain protein 44-like protein in blood serum" "spinal fracture" "whole body water mass" @@ -49042,14 +49047,14 @@ "response to doxorubicin" "X-12112 measurement" "Contractures - ectodermal dysplasia - cleft lip/palate" + "vascular brain injury" "hemoglobin C-beta-thalassemia syndrome" "Zaire ebolavirus" "peregrin" - "vascular brain injury" "methylmalonic aciduria and homocystinuria" "tubal tonsil" - "level of ubiquitin carboxyl-terminal hydrolase 11 in blood serum" "female pregnancy" + "level of ubiquitin carboxyl-terminal hydrolase 11 in blood serum" "Caco-2" "obsolete familial hyperreninemic hypoaldosteronism type 1" "level of prolargin in blood serum" @@ -49063,8 +49068,8 @@ "COMM domain-containing protein 10" "alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C" "LIM domain-containing protein 2" - "obsolete_hair cell posterior macula" "level of dickkopf-related protein 1 in blood" + "obsolete_hair cell posterior macula" "macula densa" "voltage-gated potassium channel KCNF1" "hypouricemia, renal" @@ -49146,8 +49151,8 @@ "level of prohibitin-2 in blood serum" "threonine measurement" "Intraalveolar phospholipid accumulation" - "46,XY disorder of sex development due to testicular steroidogenesis defect" "level of Golgi SNAP receptor complex member 1 in blood serum" + "46,XY disorder of sex development due to testicular steroidogenesis defect" "obsolete_familial vesicoureteral reflux" "malignant T cell-amplified sequence 1" "janus kinase and microtubule-interacting protein 3 measurement" @@ -49269,8 +49274,8 @@ "basal" "enzyme-free chemical dissociation" "GM17160" - "aggressive periodontitis" "obsolete_distal portion of right coronary artery" + "aggressive periodontitis" "atrioventricular defect-blepharophimosis-radial and anal defect syndrome" "Sec1 family domain-containing protein 1" "level of DNA-directed RNA polymerase II subunit RPB1 in blood" @@ -49399,18 +49404,18 @@ "far upstream element-binding protein 2" "X-12306 measurement" "Congenital disorder of glycosylation with nephropathy as a major feature" - "GUCY2D-related recessive retinopathy" "spinal cord injury" + "GUCY2D-related recessive retinopathy" "level of neutral and basic amino acid transport protein rBAT in blood serum" "obsolete_neural crest diencephalon" "GM17121" "Hydantoin-5-propionic acid measurement" "Salmonella enterica subsp. enterica serovar Typhimurium str. LT2" "SOSS complex subunit B2" - "3-Indolepropionic acid to 1,4-dihydro-1-Methyl-4-oxo-3-pyridinecarboxamide ratio" "prostaglandin g/h synthase 2 measurement" "level of uroporphyrinogen decarboxylase in blood serum" "maternal phenylketonuria" + "3-Indolepropionic acid to 1,4-dihydro-1-Methyl-4-oxo-3-pyridinecarboxamide ratio" "level of periplakin in blood" "3-hydroxy-3-methylglutaric aciduria" "retinitis pigmentosa 73" @@ -49480,8 +49485,8 @@ "osteoma" "Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement" "ACTH-Producing Pituitary Gland Carcinoma" - "fibrinogen measurement" "Lower limb asymmetry" + "fibrinogen measurement" "1-palmitoyl-2-linoleoyl-GPC (16:0/18:2) measurement" "endocrine system component" "hearing impairment and infertile male syndrome" @@ -49518,12 +49523,12 @@ "omega-3 polyunsaturated fatty acid measurement" "ILSXISS107/TejJ" "obsolete_benign partial epilepsy with secondarily generalized seizures in infancy" - "obsolete_zebra body myopathy" "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" "tyrosine-protein kinase FRK measurement" "protocadherin gamma-C3" "aniridia - intellectual disability syndrome" "obsolete_response to dabigatran etexilate" + "obsolete_zebra body myopathy" "regulator of G-protein signaling 8" "Genetic immune deficiency with skin involvement" "qualitative or quantitative defects of dysferlin" @@ -49691,9 +49696,9 @@ "neurological pain disorder" "level of adenosine kinase in blood serum" "C1q-related factor" + "obsolete_autosomal recessive bestrophinopathy" "4-hydroxybenzyl isothiocyanate 4-acetylrhamnoside measurement" "nasal cavity olfactory neuroblastoma" - "obsolete_autosomal recessive bestrophinopathy" "Leymus cinereus" "level of Fos-related antigen 2 in blood serum" "elongin-B" @@ -49713,8 +49718,8 @@ "cryptic protein measurement" "Premature aging appearance-developmental delay-cardiac arrhythmia syndrome" "hypoblast (generic)" - "Henoch-Schoenlein purpura" "chromobox protein homolog 7 measurement" + "Henoch-Schoenlein purpura" "pulmonary nodular amyloidosis" "anti-H3K27-3Me" "level of hyaluronidase-4 in blood serum" @@ -49780,8 +49785,8 @@ "cardiomyopathy, familial restrictive, 3" "IQ domain-containing protein F3" "phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform" - "HIB-1B" "susceptibility to mumps measurement" + "HIB-1B" "GRB2-associated-binding protein 1" "alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A" "platelet-derived growth factor receptor-like protein measurement" @@ -49863,11 +49868,11 @@ "level of uncharacterized protein C2orf73 in blood serum" "Cis-5,8,11,14,17-eicosapentaenoic acid (C20:5n3) to LysoPC 20:2 ratio" "level of ATP-dependent RNA helicase DDX25 in blood serum" + "obsolete_X-linked pure spastic paraplegia" "glutamate carboxypeptidase 2 measurement" "iPS-11b" "combined oxidative phosphorylation defect type 4" "corticobasal syndrome" - "obsolete_X-linked pure spastic paraplegia" "obsolete bulbospinal muscular atrophy of adulthood" "HIV-associated cancer" "Dejerine-Sottas syndrome" @@ -49997,21 +50002,21 @@ "urethra clear cell adenocarcinoma" "conventional osteosarcoma" "iPS-15b" + "L-Isoleucine measurement" "male reproductive system disease" "aortic arch anomaly-facial dysmorphism-intellectual disability syndrome" - "L-Isoleucine measurement" "trafficking protein particle complex subunit 5" "pterin" "X-linked Alport syndrome" "epithelium of bronchus" + "obsolete_spheroid body myopathy" "cell growth regulator with EF hand domain protein 1" "level of oxysterols receptor LXR-beta in blood serum" "obsolete_peripheral precocious puberty" - "obsolete_spheroid body myopathy" "obsolete_Aicardi syndrome" "SYNGAP1-related developmental and epileptic encephalopathy" - "curcumin" "obsolete_intermediate DEND syndrome" + "curcumin" "level of receptor-type tyrosine-protein phosphatase kappa in blood" "holoprosencephaly 12 with or without pancreatic agenesis" "deafness-vitiligo-achalasia syndrome" @@ -50028,8 +50033,8 @@ "level of eukaryotic peptidyl-prolyl cis-trans isomerase B in blood" "4,4',4''-(4-propylpyrazole-1,3,5-triyl)trisphenol" "chronic periodontitis" - "c3d:C3 ratio" "level of cyclin-dependent kinase-like 2 in blood" + "c3d:C3 ratio" "Foot dorsiflexor weakness" "obsolete_partial deletion of the long arm of chromosome 17" "NCI-H196" @@ -50234,8 +50239,8 @@ "level of group IIC secretory phospholipase A2 in blood serum" "obsolete_Ochoa syndrome" "zinc finger protein 230" - "extrahepatic bile duct carcinoma" "severe combined immunodeficiency" + "extrahepatic bile duct carcinoma" "endometrium" "melanocyte protein PMEL measurement" "Euphoria" @@ -50313,8 +50318,8 @@ "histone deacetylase complex subunit SAP30L" "T1 B cell" "obsolete_distal monosomy 9p" - "X-24699 measurement" "thiamin pyrophosphokinase 1" + "X-24699 measurement" "Hantaan virus" "IgG4-related dacryoadenitis and sialadenitis" "GM17826" @@ -50349,9 +50354,9 @@ "level of Ras association domain-containing protein 2 in blood serum" "liver carboxylesterase 1" "Abnormal jaw morphology" + "Hypertryptophanemia" "granzyme M measurement" "X-24456 measurement" - "Hypertryptophanemia" "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome" "intellectual disability, X-linked, syndromic, Bain type" "obsolete_isolated spina bifida" @@ -50359,8 +50364,8 @@ "obsolete_localized junctional epidermolysis bullosa, non-Herlitz type" "methylmercury(1+)" "mouse neural progenitor cell" - "orexigenic neuropeptide QRFP" "well-differentiated sarcoma" + "orexigenic neuropeptide QRFP" "neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline" "level of F-box only protein 3 in blood serum" "mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition" @@ -50433,11 +50438,11 @@ "progressive microcephaly-seizures-cortical blindness-developmental delay syndrome" "level of protein ADM2 in blood serum" "Leymus triticoides" - "Mild short stature" "obsolete_coloboma of macula" + "Mild short stature" "obsolete_neurenteric cyst" - "has an isolated presentation" "deoxyadenosine monophosphate measurement" + "has an isolated presentation" "TEMPS-A questionnaire" "telecanthus-hypertelorism-strabismus-pes cavus syndrome" "threonate measurement" @@ -50454,8 +50459,8 @@ "aspartate--tRNA ligase, cytoplasmic" "Treacher Collins syndrome 4" "Microcornea-myopic chorioretinal atrophy-telecanthus syndrome" - "chymotrypsin-like protease CTRL-1 measurement" "hepatic vein thrombosis" + "chymotrypsin-like protease CTRL-1 measurement" "level of tumor necrosis factor ligand superfamily member 13 in blood" "anti-H3k4-3Me" "level of hypoxia up-regulated protein 1 in blood serum" @@ -50477,13 +50482,13 @@ "level of splicing factor 3B subunit 4 in blood serum" "non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome" "CS57873" + "obsolete_myoclonic epilepsy of infancy" "level of IGF-like family receptor 1 in blood serum" "obsolete_phakomatosis pigmentokeratotica" "collectrin measurement" - "obsolete_myoclonic epilepsy of infancy" - "obsolete_orofacial cleft" - "Goodpasture syndrome" "obsolete_mucopolysaccharidosis type 4" + "Goodpasture syndrome" + "obsolete_orofacial cleft" "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form" "variegate porphyria, childhood-onset" "protein unc-79 homolog" @@ -50576,15 +50581,15 @@ "dimethylarginine (SDMA + ADMA) measurement" "caspase-2 measurement" "glutaryl-CoA dehydrogenase deficiency" - "nucleosome assembly protein 1-like 2 measurement" "Large forehead" + "nucleosome assembly protein 1-like 2 measurement" "obsolete_PYCR1-related de Barsy syndrome" "diaminopimelate measurement" "obsolete_mucopolysaccharidosis type 6, slowly progressing" "obsolete_thoraco-abdominal enteric duplication" "obsolete_Intellectual disability, Birk-Barel type" - "Atypical Lipomatous Tumor" "glycerol kinase deficiency, juvenile form" + "Atypical Lipomatous Tumor" "Increased circulating prolactin concentration" "chromosome, telomeric region" "secondary hyperparathyroidism" @@ -50604,8 +50609,8 @@ "citrulline measurement" "clathrin interactor 1 measurement" "a disintegrin and metalloproteinase with thrombospondin motifs 15 measurement" - "L-Tryptophan to 3-Indolepropionic acid ratio" "level of leucine-rich single-pass membrane protein 1 in blood serum" + "L-Tryptophan to 3-Indolepropionic acid ratio" "C-C motif chemokine 2" "retinal macular dystrophy type 2" "Benign Brain Neoplasm" @@ -50672,8 +50677,8 @@ "cell death regulator Aven" "CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell" "obsolete_MGAT2-CDG" - "obsolete_embryonic inner optic lobe primordium" "ephrin-B1 measurement" + "obsolete_embryonic inner optic lobe primordium" "Epstein Barr viral capsid antigen IgG measurement" "autosomal recessive limb-girdle muscular dystrophy type 2J" "pancreatic cancer, susceptibility to, 4" @@ -50740,16 +50745,16 @@ "anal neoplasm" "elongator complex protein 1" "level of myosin-binding protein H in blood serum" - "ptosis-strabismus-ectopic pupils syndrome" "Gallbladder Adenosquamous Carcinoma" + "ptosis-strabismus-ectopic pupils syndrome" "ampulla of vater clear cell adenocarcinoma" "level of deformed epidermal autoregulatory factor 1 in blood serum" "aggressive behavior" "obsolete generalized bulbospinal muscular atrophy" "trafficking protein particle complex subunit 6A" "obsolete_sphingolipidosis" - "obsolete_isolated anterior cervical hypertrichosis" "homeobox protein Hox-D4" + "obsolete_isolated anterior cervical hypertrichosis" "femoral neck bone mineral density" "alveolar rhabdomyosarcoma" "glutathione hydrolase 1 proenzyme" @@ -50774,9 +50779,9 @@ "Deafness - genital anomalies - metacarpal and metatarsal synostosis" "C38_5 phosphatidylcholine measurement" "obsolete zinc ion homeostasis" - "middle temporal gyrus volume measurement"@en "level of cyclin-dependent kinase 4 inhibitor D in blood" "Theileria parva" + "middle temporal gyrus volume measurement"@en "Madelung deformity, bilateral" "carboxypeptidase Q" "Generalized weakness of limb muscles" @@ -50798,11 +50803,11 @@ "plexin domain-containing protein 2" "level of neuron-specific vesicular protein calcyon in blood serum" "intrahepatic bile duct" - "free cholesterol to total lipids in IDL percentage " "probable JmjC domain-containing histone demethylation protein 2C" + "free cholesterol to total lipids in IDL percentage " "10x 3' v3" - "C. elegans embryo stage" "level of origin recognition complex subunit 6 in blood serum" + "C. elegans embryo stage" "serum ST2 amount" "Sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0) measurement" "uracil-DNA glycosylase" @@ -50871,8 +50876,8 @@ "ADP-ribosylation factor-like protein 6-interacting protein 1" "congenital nephrotic syndrome, Finnish type" "glucokinase measurement" - "microfibrillar-associated protein 2 measurement" "breast-ovarian cancer, familial, susceptibility to" + "microfibrillar-associated protein 2 measurement" "1-palmitoylglycerophosphocholine measurement" "scavenger mRNA-decapping enzyme DcpS" "atypical Rett syndrome" @@ -50971,9 +50976,9 @@ "fatty acid-binding protein, intestinal" "melanoma-associated antigen 10 measurement" "isolated agammaglobulinemia" + "posterior uveitis" "renal hypoplasia, unilateral" "9,10-DiHOME" - "posterior uveitis" "Shprintzen-Goldberg syndrome" "testicular neoplasm" "interferon alpha-8" @@ -51232,8 +51237,8 @@ "congenital sialidosis type 2" "obsolete_disorder of phenylalanine metabolism" "single cell Hi-C" - "dipeptidyl peptidase 1 measurement" "obsolete_Charcot-Marie-Tooth disease type 4J" + "dipeptidyl peptidase 1 measurement" "femoral agenesis/hypoplasia" "soft tissue disease" "glycogen storage disease due to acid maltase deficiency, late-onset" @@ -51273,9 +51278,9 @@ "cathepsin E measurement" "spermatogenic failure 66" "obsolete_infantile epileptic-dyskinetic encephalopathy" - "reading and spelling ability" "multiple acyl-CoA dehydrogenase deficiency" "disorder of visual system" + "reading and spelling ability" "vaginal yolk sac tumor" "diffuse lipomatosis" "Shukla-Vernon syndrome" @@ -51293,8 +51298,8 @@ "level of protein S100-P in blood serum" "obsolete_lissencephaly type 3" "level of zinc phosphodiesterase ELAC protein 1 in blood" - "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 measurement" "NCI-H187" + "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 measurement" "obsolete_ventral ectoderm anlage" "pharynx neoplasm" "a disintegrin and metalloproteinase with thrombospondin motifs 4 measurement" @@ -51318,10 +51323,10 @@ "jupiter microtubule associated homolog 1" "cerebellar degeneration" "bone morphogenetic protein 4" + "obsolete_brachydactyly type A1" "NudC domain-containing protein 2" "E3 ubiquitin-protein ligase RNF25" "Thin vermilion border" - "obsolete_brachydactyly type A1" "secondary hypertrophic osteoarthropathy" "candidiasis, familial, 4" "late cornified envelope-like proline-rich protein 1" @@ -51377,8 +51382,8 @@ "Malformation syndrome with skin/mucosae involvement" "obsolete_cap myopathy" "X-12126 measurement" - "SJSA1" "TOX high mobility group box family member 3 measurement" + "SJSA1" "eccrine sweat gland cancer" "natural killer cell" "Bethlem myopathy 1A" @@ -51436,8 +51441,8 @@ "level of MHC class I polypeptide-related sequence B in blood" "obsolete_OSLAM syndrome" "psychosis predisposition measurement" - "myo-inositol measurement" "oxcarbazepine-induced hyponatremia" + "myo-inositol measurement" "level of receptor-type tyrosine-protein phosphatase N2 in blood" "Mixed Lobular and Ductal Breast Carcinoma" "Abnormal circulating calcium concentration" @@ -51446,8 +51451,8 @@ "cataract 12 multiple types" "vancomycin" "Disorder of serine or glycine metabolism" - "beta-mannosidase measurement" "level of activating signal cointegrator 1 complex subunit 2 in blood serum" + "beta-mannosidase measurement" "inner ear disease" "benign muscle neoplasm" "phencyclidine" @@ -51548,16 +51553,16 @@ "level of mediator of RNA polymerase II transcription subunit 20 in blood serum" "auriculocondylar syndrome" "peroxisome biogenesis disorder due to PEX16 defect" - "Barrett adenocarcinoma" "SCLC-22H" + "Barrett adenocarcinoma" "obsolete_isolated scaphocephaly" "DNA fragmentation factor subunit alpha" "glucosamine 6-phosphate N-acetyltransferase measurement" "Fanconi anemia complementation group R" "obsolete_X-linked progressive cerebellar ataxia" "mineralocorticoid receptor measurement" - "L-dopachrome tautomerase" "autosomal dominant aplasia and myelodysplasia" + "L-dopachrome tautomerase" "dual 3',5'-cyclic-amp and -gmp phosphodiesterase 11a measurement" "blastula stage" "obsolete acrodysostosis with multiple hormone resistance" @@ -51664,9 +51669,9 @@ "X-12717 measurement" "IMR-32" "millimeter" - "X-linked intellectual disability, Abidi type" "parafollicular cell" "level of heparan sulfate glucosamine 3-O-sulfotransferase 5 in blood serum" + "X-linked intellectual disability, Abidi type" "obsolete_mevalonate kinase deficiency" "obsolete moderate COVID-19 infection" "obsolete chloroplast part" @@ -51681,12 +51686,12 @@ "benzylpenicillin" "T-helper 9 cell" "obsolete_congenital secondary polycythemia" - "level of derlin-1 in blood serum" "vitamin A deficiency" + "level of derlin-1 in blood serum" "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome" + "Cardiac Rhabdomyoma" "CAL51" "level of ELAV-like protein 2 in blood serum" - "Cardiac Rhabdomyoma" "Charcot-Marie-Tooth disease dominant intermediate C" "obsolete_symptomatic form of Coffin-Lowry syndrome in female carriers" "obsolete_Adult hypophosphatasia" @@ -51723,9 +51728,9 @@ "level of uncharacterized protein C22orf15 (human) in blood serum" "mitogen-activated protein kinase kinase kinase kinase 3" "acquired generalized lipodystrophy" + "BMI-adjusted waist-hip ratio" "immunoglobulin superfamily member 3" "level of tRNA (cytosine-5-)-methyltransferase in blood" - "BMI-adjusted waist-hip ratio" "acquired polycythemia" "GM17228" "Midline defect of mandible" @@ -51763,8 +51768,8 @@ "obsolete_leukoencephalopathy with bilateral anterior temporal lobe cysts" "3-methylglutaconate measurement" "Low-frequency sensorineural hearing impairment" - "acute myeloid leukemia, t(8;16)" "blood lead measurement" + "acute myeloid leukemia, t(8;16)" "3-Indolebutyric acid measurement" "osteogenesis imperfecta type 2" "uncharacterized protein C9orf40" @@ -51790,8 +51795,8 @@ "obsolete_hereditary motor and sensory neuropathy, Okinawa type" "fatty acid-binding protein 5" "membrane-associated progesterone receptor component 2 measurement" - "carbohydrate sulfotransferase 9 measurement" "level of GTP-binding protein SAR1a in blood serum" + "carbohydrate sulfotransferase 9 measurement" "Spastic paraplegia" "polycystic liver disease 4 with or without kidney cysts" "obsolete_frontonasal dysplasia with alopecia and genital anomaly" @@ -51869,18 +51874,18 @@ "nafadotride" "phosphatidylcholine O-36:2" "pooled clone sequencing" - "obsolete_congenital pseudoarthrosis of clavicle" "level of serglycin in blood serum" - "tyrosine-protein kinase lyn measurement" + "obsolete_congenital pseudoarthrosis of clavicle" "craniodiaphyseal dysplasia" + "tyrosine-protein kinase lyn measurement" "level of malonyl-CoA decarboxylase, mitochondrial in blood serum" "level of islet amyloid polypeptide in blood serum" "level of myosin-binding protein C, fast-type in blood" + "obsolete_autosomal recessive hyperinsulinism due to SUR1 deficiency" "chloride measurement" "arylsulfatase B measurement" - "obsolete_autosomal recessive hyperinsulinism due to SUR1 deficiency" - "neuroectodermal-endocrine syndrome" "obsolete_mammary-digital-nail syndrome" + "neuroectodermal-endocrine syndrome" "serine/threonine-protein kinase WNK1" "obsolete choroideremia-hypopituitarism syndrome" "vertebral disorder" @@ -51934,11 +51939,11 @@ "454 GS 20 standard manufacturer's protocol" "level of N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 in blood" "anti-human herpes virus 7 antibody measurement"@en + "triacylglycerol 50:3 measurement"@en "typhasterol" "sphingomyelin 22:1 measurement"@en - "triacylglycerol 50:3 measurement"@en - "GM17107" "developing seed stage" + "GM17107" "early whole plant fruit ripening stage" "regulation of platelet activation" "obsolete_myometrium" @@ -51957,10 +51962,10 @@ "malignant neoplasm of endocervix" "3-Indolepropionic acid to Homovanillic acid ratio" "macrodactyly of fingers" - "fetal hypoxia" "level of nuclear protein MDM1 in blood serum" "autosomal dominant prognathism" "dilated cardiomyopathy 1HH" + "fetal hypoxia" "age of onset of systemic lupus erythematosus" "alcohol-related disorders" "qualitative or quantitative defects of tropomyosin" @@ -52049,10 +52054,10 @@ "Chem-Seq" "level of engulfment and cell motility protein 2 in blood serum" "obsolete_Niemann-Pick disease type E" - "corneal epithelial cell" "carbamazepine-induced hyponatremia" - "mild hypophosphatasia" + "corneal epithelial cell" "obsolete_6q16 deletion syndrome" + "mild hypophosphatasia" "Epidermophyton floccosum" "level of AP-3 complex subunit beta-1 in blood" "distal arthrogryposis type 5D" @@ -52085,9 +52090,9 @@ "Miller-Dieker lissencephaly syndrome" "obsolete_distal monosomy 19p13.3" "ACTN3 deficiency"@en + "13,16,19-Docosatrienoic acid" "serine hydrolase RBBP9" "scrotal hemangioma" - "13,16,19-Docosatrienoic acid" "susceptibility to Mycobacterium tuberculosis infection measurement" "level of mitochondrial proton/calcium exchanger protein in blood" "level of nuclear receptor-interacting protein 3 in blood serum" @@ -52112,10 +52117,10 @@ "Huntington disease-like 3" "salivary duct carcinoma" "neuronal growth regulator 1 measurement" - "obsolete_T+ B+ severe combined immunodeficiency" - "single nucleus RNA sequencing" "autosomal recessive spinocerebellar ataxia 12" + "obsolete_T+ B+ severe combined immunodeficiency" "heart valve prosthesis" + "single nucleus RNA sequencing" "Charcot-Marie-Tooth disease type 4A" "feather" "pterin-4-alpha-carbinolamine dehydratase" @@ -52135,8 +52140,8 @@ "level of ubiquitin carboxyl-terminal hydrolase 19 in blood serum" "carbohydrate transport" "T-Cell Prolymphocytic Leukemia" - "level of secretoglobin family 3A member 2 in blood serum" "X-12094 measurement" + "level of secretoglobin family 3A member 2 in blood serum" "Smart-seq" "Joubert syndrome 36" "embryonic stem cell" @@ -52199,8 +52204,8 @@ "fear of severe pain measurement" "anti-thyroglobulin antibody measurement" "methylmalonate (MMA) measurement" - "motile sperm domain-containing protein 1" "Abnormal circulating nitrogen compound concentration" + "motile sperm domain-containing protein 1" "gamma-synuclein" "odorant-binding protein 2b measurement" "level of histone chaperone ASF1A in blood serum" @@ -52297,10 +52302,10 @@ "E3 ubiquitin-protein ligase HECW1" "embryonal carcinoma cell" "pseudohypoaldosteronism type 2D" - "Disorder of branched-chain amino acid metabolism" - "obsolete_rhombomere 3" "pseudo-bulk aggregation of single-cell ATAC-seq data" + "obsolete_rhombomere 3" "HCEC 2CT" + "Disorder of branched-chain amino acid metabolism" "1-linolenoylglycerol (18:3) measurement" "GM3 ganglioside measurement" "HG03521" @@ -52312,28 +52317,28 @@ "idiopathic urticaria" "trait in response to irinotecan" "level of GTP cyclohydrolase 1 in blood serum" - "level of mediator of RNA polymerase II transcription subunit 28 in blood serum" "cone dystrophy" + "level of mediator of RNA polymerase II transcription subunit 28 in blood serum" "Epinephelus tauvina" "Gaucher disease" "myristoleate" "mosaic trisomy 20" - "Allergy" "RCB1903 cell" + "Allergy" "Alkalosis" "obsolete_fibular hemimelia, unilateral" "tryptophan" "carotid artery thrombosis" - "hyperinsulinemic hypoglycemia, familial, 1" "PRA1 family protein 3" + "hyperinsulinemic hypoglycemia, familial, 1" "obsolete_5q14.3 microdeletion syndrome" "glucosamine-6-phosphate isomerase 1 measurement" - "1-palmitoyl-2-arachidonoyl-GPI (16:0/20:4) measurement" - "iPS-18a" "hypertrophic cardiomyopathy 6" + "1-palmitoyl-2-arachidonoyl-GPI (16:0/20:4) measurement" "deoxycytidylate deaminase" "MCF12A" "Lattice retinal degeneration" + "iPS-18a" "level of alanine--glyoxylate aminotransferase in blood serum" "Sickle cell - hemoglobin C disease" "gastrula stage" @@ -52499,8 +52504,8 @@ "3-Indolepropionic acid to L-Arginine ratio" "congenital absence of both lower leg and foot" "maternally-inherited cardiomyopathy and hearing loss" - "GM17261" "cystinuria type B" + "GM17261" "immunoglobulin kappa variable 1-5 (human)" "very long-chain specific acyl-CoA dehydrogenase, mitochondrial" "Hyperinsulinemia" @@ -52575,8 +52580,8 @@ "apolipoprotein B-100" "obsolete_neurofibromatosis type II" "obsolete_partial duplication of the short arm of chromosome 1" - "BL-3" "vitreous detachment" + "BL-3" "forkhead box protein P3" "minimal erythema dose" "phosphatidylcholine O-36:1" @@ -52619,9 +52624,9 @@ "Brugada syndrome 1" "developmental delay with autism spectrum disorder and gait instability" "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency" + "level of pleckstrin homology domain-containing family A member 3 in blood serum" "blood-injection-injury phobia" "epithelial cell adhesion molecule measurement"@en - "level of pleckstrin homology domain-containing family A member 3 in blood serum" "E3 ubiquitin-protein ligase SMURF2" "histone H2A type 1-A" "Dehalococcoides ethenogenes 195" @@ -52692,11 +52697,11 @@ "osteogenesis imperfecta type 4" "self-healing collodion baby" "myeloperoxidase (MPO)-DNA complex measurement"@en - "Peroxisome biogenesis disorder-Zellweger syndrome spectrum" "obsolete_nucleus of terminal stria" "hereditary sensory and autonomic neuropathy type 1" - "obsolete_combined deficiency of factor V and factor VIII" + "Peroxisome biogenesis disorder-Zellweger syndrome spectrum" "iatrogenic Kaposi's sarcoma" + "obsolete_combined deficiency of factor V and factor VIII" "1-stearoyl-GPC (18:0) measurement" "secretagogin" "tsA-201" @@ -52727,12 +52732,12 @@ "dystrophin" "pineal region yolk sac tumor" "macrophage mannose receptor 1 measurement" - "thiopurine metabolite measurement" "Fanconi anemia complementation group E" "Panc 08.13" - "mesomelic dwarfism-cleft palate-camptodactyly syndrome" + "thiopurine metabolite measurement" "bone remodeling disease" "N-(2-furoyl)glycine" + "mesomelic dwarfism-cleft palate-camptodactyly syndrome" "Clear Cell Meningioma" "hereditary neuropathy with liability to pressure palsies" "Macrothrombocytopenia" @@ -52841,10 +52846,10 @@ "wing" "congenital non-communicating hydrocephalus" "obsolete_pseudoachondroplasia" - "level of metalloproteinase inhibitor 4 in blood serum" "pyridoxal phosphate phosphatase measurement" - "ascitic fluid" + "level of metalloproteinase inhibitor 4 in blood serum" "anti-BK polyomavirus antibody measurement"@en + "ascitic fluid" "Neisseria gonorrhoeae F62" "level of ATP-dependent RNA helicase DDX39 in blood" "CD8-positive, alpha-beta T cell" @@ -52885,12 +52890,12 @@ "linear and whorled nevoid hypermelanosis" "Solanum phureja" "pterin-4-alpha-carbinolamine dehydratase 2" + "obsolete_tongue mucosa" "ZW10 interactor" "opiorphin prepropeptide" - "obsolete_tongue mucosa" "Bacillus cereus ATCC 14579" - "ovarian neuroendocrine neoplasm" "retinitis punctata albescens" + "ovarian neuroendocrine neoplasm" "obsolete_genetic transient congenital hypothyroidism" "level of valine--tRNA ligase in blood serum" "tumor necrosis factor ligand superfamily member 14 measurement"@en @@ -52907,8 +52912,8 @@ "obsolete_immunodeficiency due to MASP-2 deficiency" "X-12095--N1-methyl-3-pyridone-4-carboxamide measurement" "obsolete_pseudohypoaldosteronism type 2E" - "asialoglycoprotein receptor 2 measurement" "QT interval" + "asialoglycoprotein receptor 2 measurement" "GM17103" "epigen" "obsolete lens shape anomaly" @@ -52943,9 +52948,9 @@ "femtogram" "Abnormality of the bladder" "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" - "kin of IRRE-like protein 2 measurement" "calpain-3 measurement" "obsolete_inflammation" + "kin of IRRE-like protein 2 measurement" "obsolete_complex hereditary spastic paraplegia" "gallbladder rhabdomyosarcoma" "obsolete_masseter muscle" @@ -53032,9 +53037,9 @@ "interleukin-22 receptor subunit alpha-1 measurement" "level of GTP-binding protein GEM in blood serum" "Enlarged cisterna magna" - "obsolete_non-syndromic developmental defect of the eye" "SK-CO-1" "leukoencephalopathy with vanishing white matter" + "obsolete_non-syndromic developmental defect of the eye" "isotretinoin-like syndrome" "larynx liposarcoma" "2BS" @@ -53074,8 +53079,8 @@ "mature CD1a-positive dermal dendritic cell" "3-hydroxydodecanedioate measurement" "lysophosphatidylcholine 17:0 measurement" - "HG03558" "right" + "HG03558" "obsolete_endocrine system component" "musculoskeletal system disease" "GM17167" @@ -53087,10 +53092,10 @@ "aspergillus seropositivity" "coenzyme Q10 deficiency" "obsolete congenital myopathy with cores" + "causalgia" "response to topoisomerase inhibitor" "anal canal cancer" "mandibulofacial dysostosis with mental deficiency" - "causalgia" "ovary rhabdomyosarcoma" "colorectal cancer, susceptibility to, 3" "level of myosin light chain 4 in blood serum" @@ -53098,9 +53103,9 @@ "DnaJ homolog subfamily B member 9 measurement" "type IV hypersensitivity disease" "1-stearoyl-2-linoleoyl-GPI (18:0/18:2) measurement" - "iPS-18b" "MCF-7" "LRP2-binding protein" + "iPS-18b" "osteoarthritis" "level of fatty acid-binding protein 12 in blood serum" "level of glyoxylate reductase/hydroxypyruvate reductase in blood" @@ -53191,10 +53196,10 @@ "Vestibular schwannoma" "growth factor receptor-bound protein 10" "hepatorenocardiac degenerative fibrosis" - "obsolete_gelatinous drop-like corneal dystrophy" - "obsolete_Rothmund-Thomson syndrome type 1" "cerebellum" + "obsolete_gelatinous drop-like corneal dystrophy" "mucopolysaccharidosis type 6, slowly progressing" + "obsolete_Rothmund-Thomson syndrome type 1" "indole ethanol (tryptophanol) measurement" "adenomatous colon polyp" "bronchiectasis" @@ -53218,8 +53223,8 @@ "diffuse palmoplantar keratoderma - acrocyanosis syndrome" "breast cancer anti-estrogen resistance protein 3 measurement" "sphingomyelin 32:0" - "Congenital joint dislocations" "histone chaperone ASF1A" + "Congenital joint dislocations" "3-Indolepropionic acid to Kynurenic acid ratio" "neuroticism measurement" "inverse Klippel-Trenaunay syndrome" @@ -53293,10 +53298,10 @@ "level of specifically androgen-regulated gene protein in blood serum" "brain-lung-thyroid syndrome" "Geospiza difficilis" + "calcineurin B homologous protein 1 measurement" "alopecia, isolated" "steroid hormone" "level of 11-beta-hydroxysteroid dehydrogenase 1 in blood serum" - "calcineurin B homologous protein 1 measurement" "Abnormality of the digestive system" "obsolete_sepal" "mechanical dissociation" @@ -53319,8 +53324,8 @@ "C4b-binding protein alpha chain" "familial cold autoinflammatory syndrome 1" "hepatic porphyria" - "obsolete_chondrodysplasia with joint dislocations, gPAPP type" "inosine diphosphate measurement" + "obsolete_chondrodysplasia with joint dislocations, gPAPP type" "hypoxia" "obsolete_late-onset nephronophthisis" "obsolete_primary hyperoxaluria" @@ -53382,21 +53387,21 @@ "obsolete_Verloove Vanhorick-Brubakk syndrome" "obsolete_distal 17p13.1 microdeletion syndrome" "X-11786--methylcysteine measurement" + "Safe-SeqS" "level of C-type lectin domain family 1 member A in blood" "disseminated candidiasis" - "Safe-SeqS" "congenital anomaly of the great arteries" - "spinal muscular atrophy, type IV" "obsolete_primary neuron hindbrain" + "spinal muscular atrophy, type IV" "long QT syndrome 13" "blood N-carbamoylalanine measurement" - "Testicular Non-Seminomatous Germ Cell Tumor" "neuropathy, hereditary motor and sensory, type 6A" + "Testicular Non-Seminomatous Germ Cell Tumor" "hemochromatosis type 5" "Coffin-Siris syndrome 11" "level of pleckstrin homology domain-containing family A member 4 in blood serum" - "Osteopenia" "cancerophobia" + "Osteopenia" "vascular endothelial growth factor D measurement"@en "cell barcode offset" "Trichomonas prostatitis" @@ -53444,10 +53449,10 @@ "SK-N-AS" "obsolete_glycoproteinosis" "genochondromatosis type 1" - "OX-2 membrane glycoprotein measurement" "acute myeloid leukemia, t(5;11)(q35;p15)" "Abnormal urine output" "excreta" + "OX-2 membrane glycoprotein measurement" "level of deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial in blood serum" "ticlopidine" "acral self-healing collodion baby" @@ -53587,8 +53592,8 @@ "speech perception" "Infantile onset" "protein ripply1" - "visceral neuropathy, familial, 1, autosomal recessive" "Capture-C" + "visceral neuropathy, familial, 1, autosomal recessive" "GM12761" "acute gonococcal cervicitis" "upper limb hypertrophy" @@ -53613,8 +53618,8 @@ "obsolete_gastric fundus" "nipple neoplasm" "branchiootic syndrome" - "calsenilin measurement" "colorblindness, partial" + "calsenilin measurement" "interleukin 1 receptor antagonist measurement" "follistatin measurement"@en "interleukin-17A measurement" @@ -53652,9 +53657,9 @@ "obsolete_infantile systemic hyalinosis" "partial trisomy/tetrasomy of the short arm of chromosome 12" "trait in response to buspirone" - "degree celsius" "obsolete_autosomal dominant hypohidrotic ectodermal dysplasia" "kinesin-like protein KIF1C measurement" + "degree celsius" "hormone secretion" "signal-regulatory protein gamma" "glutathione S-transferase theta-2B" @@ -53680,8 +53685,8 @@ "X-linked intellectual disability - cerebellar hypoplasia" "response to amisulpride"@en "obsolete_mesenchyme pectoral fin" - "non-alcoholic fatty liver" "level of cytokine SCM-1 beta in blood serum" + "non-alcoholic fatty liver" "D-ribitol-5-phosphate cytidylyltransferase" "Granta-519" "pharynx carcinoma in situ" @@ -53765,8 +53770,8 @@ "genotyping" "obsolete_fibular hemimelia, bilateral" "level of cathepsin O in blood serum" - "central core myopathy" "cisplatin" + "central core myopathy" "Syndrome with 46,XX disorder of sex development" "3-hydroxylaurate" "intracranial subdural hematoma" @@ -53842,14 +53847,14 @@ "nuclear receptor subfamily 4 immunity group A member 1" "Goniodysgenesis" "level of Phosphatidylcholine (18:0_20:3) in blood serum" + "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" "sodium/potassium-transporting ATPase subunit gamma" + "obsolete_qualitative or quantitative defects of alpha-sarcoglycan" "level of Tax1-binding protein 1 in blood serum" "spindle" - "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" - "obsolete_qualitative or quantitative defects of alpha-sarcoglycan" + "Cataract - hypertrichosis - intellectual disability" "cell barcode read" "imidazolium cation" - "Cataract - hypertrichosis - intellectual disability" "level of Arf-GAP domain and FG repeat-containing protein 1 in blood serum" "Marie Unna hereditary hypotrichosis" "autosomal dominant severe congenital neutropenia" @@ -53863,8 +53868,8 @@ "severe Canavan disease" "plexin-A4" "UDP-glucuronosyltransferase 1-6 measurement" - "t-cell receptor-associated transmembrane adapter 1 measurement" "obsolete_embryonic labial sensory complex" + "t-cell receptor-associated transmembrane adapter 1 measurement" "level of oxysterol-binding protein-related protein 9 in blood serum" "threonine" "dysplastic oral keratinocyte" @@ -54126,12 +54131,12 @@ "obsolete_Progressive myoclonic epilepsy type 5" "familial hypercholesterolemia" "sensorineural hearing loss-early graying-essential tremor syndrome" - "obsolete_beta-thalassemia and related diseases" "acute myeloid leukemia, t(7;12)(q36;p13)" "Locusta migratoria manilensis" + "obsolete_beta-thalassemia and related diseases" "fibroepithelial polyp of the anus" - "P-Selectin measurement" "level of segment polarity protein dishevelled homolog DVL-2 in blood serum" + "P-Selectin measurement" "multiple epiphyseal dysplasia, Lowry type" "X-linked ichthyosis syndrome" "limb transversal defect-cardiac anomaly syndrome" @@ -54159,8 +54164,8 @@ "acute myeloid leukemia, MLL gene rearrangement" "ethionamide" "dermokine" - "Pfeiffer" "ubiquitin carboxyl-terminal hydrolase 46" + "Pfeiffer" "Delpire-McNeill syndrome" "household income" "cutaneous mastocytosis" @@ -54295,8 +54300,8 @@ "cardiac troponin I measurement" "isolated anhidrosis with normal sweat glands" "semaphorin-6D" - "PL45" "Colon Inflammatory Polyp" + "PL45" "pathological complete response" "Capture-HiC" "UCSF4" @@ -54316,10 +54321,10 @@ "obsolete_age-related cataract" "dysspondyloenchondromatosis" "s-phase kinase-associated protein 1 measurement" - "AMSH-like protease" + "triacylglycerol 44:1 measurement"@en "Niemann-Pick disease type A" + "AMSH-like protease" "dilated cardiomyopathy 1KK" - "triacylglycerol 44:1 measurement"@en "Festuca arundinacea" "agammaglobulinemia 10, autosomal dominant" "obsolete_olfactory system" @@ -54412,8 +54417,8 @@ "intellectual disability-expressive aphasia-facial dysmorphism syndrome" "level of amiloride-sensitive amine oxidase [copper-containing] in blood serum" "hepatitis A virus infection" - "rhegmatogenous retinal detachment" "PLATE-Seq" + "rhegmatogenous retinal detachment" "glycine amidinotransferase, mitochondrial" "diacylglycerol 34:2" "pleckstrin homology domain-containing family F member 2" @@ -54496,9 +54501,9 @@ "malignant pleural solitary fibrous tumor" "central neurocytoma" "Osteopetrosis" - "Calvarial doughnut lesions - bone fragility" "isolated noncompaction of the ventricular myocardium" "DnaJ homolog subfamily C member 30 measurement" + "Calvarial doughnut lesions - bone fragility" "complement factor H-related protein 5 measurement" "level of protein-tyrosine sulfotransferase 2 in blood serum" "prostate derived cell line" @@ -54523,8 +54528,8 @@ "prolyl 3-hydroxylase 1" "spinocerebellar ataxia type 18" "mitogen-activated protein kinase 9 measurement" - "partial duplication of chromosome 16" "principal investigator" + "partial duplication of chromosome 16" "level of Phosphatidylcholine (18:0_20:4) in blood serum" "adult Refsum disease" "obsolete_odontomicronychial dysplasia" @@ -54609,17 +54614,17 @@ "level of protein Jumonji in blood serum" "bronchial disease" "CD244 measurement" - "obsolete_unknown leukodystrophy" "level of beta-1,4-galactosyltransferase 2 in blood serum" "hand dermatosis" + "obsolete_unknown leukodystrophy" "level of glutamate--cysteine ligase regulatory subunit in blood serum" "Hypocrea virens" "hyaluronan and proteoglycan link protein 4" "level of gem-associated protein 7 in blood serum" "3-Indolepropionic acid to Phenylpyruvic acid ratio" - "Syndromic developmental defect of the eye" "Methanobrevibacter smithii ATCC 35061" "neuroligin-1" + "Syndromic developmental defect of the eye" "isovaleric acidemia" "H157" "methylation profiling" @@ -54666,10 +54671,10 @@ "obsolete_cultivar" "level of scinderin in blood serum" "protein SCO1 homolog, mitochondrial measurement" + "obsolete_Bamforth-Lazarus syndrome" "Trematode Infections" "congenital disorder of glycosylation" "bacilli seropositivity" - "obsolete_Bamforth-Lazarus syndrome" "obsolete_Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome" "neurodevelopmental disorder with alopecia and brain abnormalities" "epidermolysis bullosa simplex 2A, generalized severe" @@ -54891,16 +54896,16 @@ "Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities" "ectrodactyly and ectodermal dysplasia without cleft lip/palate" "level of semaphorin-3B in blood serum" - "EF-hand domain-containing protein D1" "Familial partial lipodystrophy due to AKT2 mutations" + "EF-hand domain-containing protein D1" "acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive" "17-beta-hydroxysteroid dehydrogenase type 3" "Prolonged PR interval" "level of transcription factor SOX-6 in blood serum" "nerve conduction amplitude" "Chronic diarrhea" - "ribonucleotide metabolic process" "PL-21" + "ribonucleotide metabolic process" "hearing loss, autosomal dominant 79" "social deprivation" "Pulmonary embolism" @@ -54913,10 +54918,10 @@ "trait in response to escitalopram" "choroid epithelioid cell melanoma" "age of onset of essential hypertension" - "pVAC-Seq" "collective leaf structure" "level of chromodomain-helicase-DNA-binding protein 1-like in blood serum" "level of neural cell adhesion molecule 1 in blood serum" + "pVAC-Seq" "fungal infectious disease" "level of jupiter microtubule associated homolog 2 in blood serum" "serrate RNA effector molecule" @@ -55023,14 +55028,14 @@ "Rabson-Mendenhall syndrome" "Hemoglobin SC Disease" "Ptosis - upper ocular movement limitation - absence of lacrimal punctum" + "obsolete_T-B+ severe combined immunodeficiency due to CD45 deficiency" "Monteggia's fracture" "dynactin-associated protein measurement" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "obsolete global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome" "level of protocadherin gamma-A12 in blood serum" - "obsolete_T-B+ severe combined immunodeficiency due to CD45 deficiency" - "acute myeloid leukemia, t(11;15)(p15;q35)" "toothache" + "acute myeloid leukemia, t(11;15)(p15;q35)" "hereditary spastic paraplegia 48" "protein mago nashi" "isolated aniridia" @@ -55111,8 +55116,8 @@ "Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome" "partial monosomy of the short arm of chromosome 20" "obsolete_sickle cell disease associated with an other hemoglobin anomaly" - "bile duct carcinoma in situ" "level of latexin in blood serum" + "bile duct carcinoma in situ" "level of cytosolic endo-beta-N-acetylglucosaminidase in blood serum" "Epileptic encephalopathy" "level of amyloid-beta precursor protein in blood" @@ -55169,8 +55174,8 @@ "nail-patella-like renal disease" "Vitamin B12-responsive methylmalonic acidemia type cblB" "obsolete_Zimmermann-Laband syndrome" - "level of probable global transcription activator SNF2L2 in blood" "Abnormal aortic morphology" + "level of probable global transcription activator SNF2L2 in blood" "level of sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating in blood serum" "alveolus" "obsolete_autosomal dominant diffuse mutilating palmoplantar keratoderma" @@ -55180,8 +55185,8 @@ "mitogen-activated protein kinase 6" "level of keratocan in blood serum" "Ataxia-deafness-intellectual disability syndrome" - "level of AN1-type zinc finger protein 3 in blood serum" "protein EVI2B measurement" + "level of AN1-type zinc finger protein 3 in blood serum" "level of large proline-rich protein BAT3 in blood serum" "hip dysplasia, Beukes type" "benign essential blepharospasm" @@ -55262,15 +55267,15 @@ "Spartina alterniflora" "severe malarial anemia"@en "Brain atrophy" - "level of reticulophagy regulator 1 in blood serum" "obsolete_disorder of glycolysis" + "level of reticulophagy regulator 1 in blood serum" "drug" "obsolete_FGFR3-related chondrodysplasia" - "protein S100-A2 measurement" "level of PDZ and LIM domain protein 1 in blood serum" "NCI-H2795" "Progressive distal muscular atrophy" "Saccharomyces bayanus x Saccharomyces cerevisiae" + "protein S100-A2 measurement" "obsolete congenital valvular dysplasia" "obsolete_isolated congenital hypogonadotropic hypogonadism" "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis" @@ -55299,8 +55304,8 @@ "level of uncharacterized protein CXorf38 in blood serum" "spastic paraplegia 83, autosomal recessive" "UV-C light regimen" - "tomatidine" "UDP-N-acetylhexosamine pyrophosphorylase measurement" + "tomatidine" "neonatal Marfan syndrome" "t-cell surface glycoprotein CD3 gamma chain measurement" "level of UPF0606 protein KIAA1549L (human) in blood serum" @@ -55316,8 +55321,8 @@ "Forceps delivery" "periodic fever, immunodeficiency, and thrombocytopenia syndrome" "adseverin measurement" - "ribosomal protein S6 kinase beta-2" "total stigmasterol measurement"@en + "ribosomal protein S6 kinase beta-2" "central nervous system leiomyoma" "obsolete_anauxetic dysplasia" "obsolete_pelvis" @@ -55338,8 +55343,8 @@ "level of apolipoprotein C-I in blood" "penis carcinoma in situ" "DBTRG05MG" - "glycohyocholate measurement" "1-(1-enyl-stearoyl)-2-linoleoyl-GPE (P-18:0/18:2)* measurement"@en + "glycohyocholate measurement" "growth factor receptor-bound protein 7" "obsolete_9,10-dihome measurement" "blood vanillic alcohol sulfate measurement" @@ -55382,11 +55387,11 @@ "3-Indolepropionic acid to L-Ornithine ratio" "membrane-associated progesterone receptor component 1 measurement" "CB4853" - "Congenital absence of upper arm and forearm with hand present, unilateral" "PRIESS" "metabolomic profiling" "spartin" "Joubert syndrome with Jeune asphyxiating thoracic dystrophy" + "Congenital absence of upper arm and forearm with hand present, unilateral" "central pontine myelinolysis" "extraskeletal myxoid chondrosarcoma" "doublesex- and mab-3-related transcription factor C2" @@ -55420,10 +55425,10 @@ "obsolete_partial deletion of chromosome 19" "obsolete_Timothy syndrome" "obsolete_Cronkhite-Canada syndrome" - "Trilogy of Fallot" "protein sprouty homolog 1 measurement" - "bacillus seropositivity" + "Trilogy of Fallot" "urine specific gravity measurement" + "bacillus seropositivity" "great vessel cancer" "obsolete_Bangstad syndrome" "Arf-GAP domain and FG repeat-containing protein 1" @@ -55446,8 +55451,8 @@ "level of Rho GTPase-activating protein 5 in blood serum" "Rare genetic dystonia" "calcium-binding and coiled-coil domain-containing protein 2 measurement" - "immature granulocyte measurement" "obsolete_MUTYH-related attenuated familial adenomatous polyposis" + "immature granulocyte measurement" "colony stimulating factor 1 measurement" "obsolete_branchiostegal ray 1" "obsolete_qualitative or quantitative defects of alpha-dystroglycan" @@ -55585,8 +55590,8 @@ "ascorbic acid 2-sulfate measurement" "pro-opiomelanocortin measurement" "xaa‐pro aminopeptidase 2 measurement"@en - "obsolete_mandibular muscle" "CCL17 measurement" + "obsolete_mandibular muscle" "microcephaly-brachydactyly-kyphoscoliosis syndrome" "orbitofrontal cortex" "tumor necrosis factor alpha-induced protein 8-like protein 2" @@ -55687,9 +55692,9 @@ "2,3-dihydroxy-5-methylthio-4-pentenoate (DMTPA) measurement" "obsolete syndromic ankyloblepharon" "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial measurement" + "hepatitis C virus seropositivity" "hypertrichosis of eyelid" "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial" - "hepatitis C virus seropositivity" "OCI-AML3" "level of zinc finger protein 134 in blood serum" "triacylglycerol 52:3 measurement"@en @@ -55767,8 +55772,8 @@ "L-Aspartic acid measurement" "level of 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT3 in blood" "immunoproliferative small intestinal disease" - "apolipoprotein A 1 change measurement" "EF-hand domain-containing protein D2" + "apolipoprotein A 1 change measurement" "level of protocadherin gamma-A2 in blood serum" "C1Q deficiency" "carcinosarcoma of the corpus uteri" @@ -55861,16 +55866,16 @@ "calpain small subunit 1" "ketone body measurement" "Generalized congenital lipodystrophy with myopathy" - "level of tyrosine-protein kinase receptor UFO in blood serum" "cerotoylcarnitine (C26) measurement" + "level of tyrosine-protein kinase receptor UFO in blood serum" "Renpenning syndrome" "neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities" "hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency" "Inguinal freckling" "disorder of mineral absorption and transport" "LAPC-4" - "programmed cell death protein 4" "obsolete_vitamin B12-unresponsive methylmalonic acidemia type mut-" + "programmed cell death protein 4" "level of Rab GDP dissociation inhibitor alpha in blood serum" "body height" "leucine-rich repeat-containing protein 38" @@ -55884,8 +55889,8 @@ "neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity" "carcinoembryonic antigen-related cell adhesion molecule 21" "dentinogenesis imperfecta type 2" - "cytoplasm" "4-vinylguaiacol sulfate measurement" + "cytoplasm" "level of holocytochrome c-type synthase in blood serum" "protein FAM150B measurement" "4-androsten-3alpha,17alpha-diol monosulfate (3) measurement" @@ -55903,10 +55908,10 @@ "L-prolylglycine" "level of DNA polymerase delta subunit 4 in blood serum" "tumor necrosis factor ligand superfamily member 11 measurement"@en - "scavenger receptor cysteine-rich type 1 protein m130 measurement" "chemotherapy-induced oral mucositis" "level of cullin-3 in blood serum" "suberic acid" + "scavenger receptor cysteine-rich type 1 protein m130 measurement" "organelle envelope lumen" "delayed puberty, self-limited" "alpha-internexin" @@ -55916,10 +55921,10 @@ "mammary gland epithelial cell" "annular pancreas" "obsolete_marginal papular palmoplantar keratoderma" - "thrombocytopenia 7" "Helicobacter pylori P12" "lung leiomyosarcoma" "NmrA-like family domain-containing protein 1" + "thrombocytopenia 7" "GM12812" "2-methylmalonylcarnitine (C4-DC) measurement" "Fanconi renotubular syndrome" @@ -55952,10 +55957,10 @@ "obsolete_partial monosomy of the short arm of chromosome 20" "cancer/testis antigen 55 measurement" "junctional epidermolysis bullosa inversa" - "obsolete_Pellagra-like skin rash - neurological manifestations" "obsolete_Joubert syndrome with ocular defect" "immunoglobulin-binding protein 1 measurement" "obsolete_vagal ganglion 1" + "obsolete_Pellagra-like skin rash - neurological manifestations" "sperm surface protein Sp17" "cross sectional design" "gastric bypass" @@ -55990,8 +55995,8 @@ "obsolete_median fin skeleton" "myofibroblastoma" "obsolete_Congenital cataract, Volkmann type" - "Corneoiridogoniodysgenesis" "level of proline-rich AKT1 substrate 1 in blood" + "Corneoiridogoniodysgenesis" "level of nibrin in blood" "histiocytic sarcoma" "parachordal vessel" @@ -56026,12 +56031,12 @@ "congenital enteropathy due to enteropeptidase deficiency" "free stigmasterol measurement"@en "Burkholderia mallei" - "obsolete_alpha-N-acetylgalactosaminidase deficiency type 2" "obsolete_retroperitoneum" "level of protein GPR15LG in blood" "pituitary-dependent Cushing's disease" "B-cell receptor CD22 measurement" "level of KH domain-containing, RNA-binding, signal transduction-associated protein 2 in blood serum" + "obsolete_alpha-N-acetylgalactosaminidase deficiency type 2" "Macrocephaly - spastic paraplegia - dysmorphism" "nonaylcarnitine measurement" "level of basic leucine zipper transcriptional factor ATF-like in blood serum" @@ -56180,10 +56185,10 @@ "hTERT-HM" "immature platelet count" "level of cysteine-rich protein 2 in blood serum" + "obsolete_ring chromosome 7" "sulfide:quinone oxidoreductase activity" "chronic maxillary sinusitis" "brachydactyly of toes, bilateral" - "obsolete_ring chromosome 7" "transcription elongation factor A protein-like 1" "epithelial cell of pancreas" "keratocan" @@ -56259,14 +56264,14 @@ "C57BL/6-scid" "protein MRVI1 measurement" "secondary hyperparathyroidism of renal origin" + "obsolete_peeling skin syndrome" "SCC-9" "level of otoancorin in blood" "response to perphenazine" - "obsolete_peeling skin syndrome" + "peste des petits ruminants infectious disease" "ND00259" "level of calcipressin-1 in blood serum" "non-Zellweger spectrum disorder" - "peste des petits ruminants infectious disease" "level of V-set and immunoglobulin domain-containing protein 2 in blood serum" "obsolete_Heinz body anemia" "delusional disorder" @@ -56296,8 +56301,8 @@ "BICD family-like cargo adapter 1" "cutaneous melanoma" "intraocular pressure measurement" - "level of importin subunit alpha-5 in blood serum" "obsolete_Primary myoclonus" + "level of importin subunit alpha-5 in blood serum" "obsolete_Banki syndrome" "obsolete_autosomal recessive pure spastic paraplegia" "level of valacyclovir hydrolase in blood serum" @@ -56380,10 +56385,10 @@ "transcription factor ATOH1" "type 1 diabetes mellitus 20" "hyperthyroxinemia" - "RNA-seq of non coding RNA from single cells" "complement C1q and tumor necrosis factor-related protein 9A measurement" - "paracetamol sulfate" + "RNA-seq of non coding RNA from single cells" "colorectal tubulovillous adenoma" + "paracetamol sulfate" "Cervical hypertrichosis - peripheral neuropathy" "level of zinc finger protein with KRAB and SCAN domains 7 in blood serum" "Central Nervous System Anaplastic Large Cell Lymphoma" @@ -56404,16 +56409,16 @@ "CE(14:1(9Z))" "Daudi" "benign neoplasm of minor salivary gland" - "obsolete_disease predisposing to age-related macular degeneration" "obsolete_autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" + "ankyrin repeat domain-containing protein 27 measurement" "ethylmalonic encephalopathy" "EBC-1" "SNU182" "Autosomal recessive spastic paraplegia type 75" - "ankyrin repeat domain-containing protein 27 measurement" "glypican-1" "familial isolated arrhythmogenic ventricular dysplasia, right dominant form" "Miyoshi muscular dystrophy 1" + "obsolete_disease predisposing to age-related macular degeneration" "Abnormality of the upper limb" "syntaxin-10 measurement" "cancer pain"@en @@ -56436,8 +56441,8 @@ "hepatitis E virus seropositivity" "phospholipase A2, membrane associated measurement" "triacylglycerol 52:4 measurement"@en - "diffuse idiopathic skeletal hyperostosis" "obsolete_jejunum" + "diffuse idiopathic skeletal hyperostosis" "COMM domain-containing protein 5" "level of DDB1- and CUL4-associated factor 5 in blood serum" "red wine liking measurement" @@ -56495,12 +56500,12 @@ "interleukin-24 (Homo sapiens)" "polycomb protein SCMH1" "pelvic region of trunk" + "protocadherin alpha-C2 measurement" "metastasis" "Pristionchus pacificus" - "protocadherin alpha-C2 measurement" "level of Phosphatidylcholine (16:0_0:0) in blood serum" - "paired fin bud" "L-Carnitine measurement" + "paired fin bud" "Bile Duct Adenoma" "obsolete_alkaline ceramidase 3 deficiency" "mucopolysaccharidosis type 9" @@ -56529,8 +56534,8 @@ "level of tRNA (adenine-N(1)-)-methyltransferase non-catalytic subunit TRM6 in blood serum" "age of onset of type 1 diabetes mellitus" "obsolete_qualitative or quantitative defects of protein O-mannosyltransferase 1" - "doxycycline" "obsolete_limb-mammary syndrome" + "doxycycline" "ectropion" "COL4A1-related disorder" "level of adhesion G-protein coupled receptor D1 in blood" @@ -56596,15 +56601,15 @@ "breast cancer metastasis-suppressor 1-like protein" "level of non-structural maintenance of chromosomes element 1 in blood serum" "autosomal recessive Kenny-Caffey syndrome" - "obsolete_juvenile primary lateral sclerosis" - "brachial plexus neoplasm" "Rare hypothyroidism" - "E3 ubiquitin-protein ligase RNF128 measurement" + "brachial plexus neoplasm" "systemic lupus erythematosus, susceptibility to, 11" - "D-Arabinose measurement" + "obsolete_juvenile primary lateral sclerosis" "Xylella fastidiosa 9a5c" + "D-Arabinose measurement" "dentinogenesis imperfecta type 3" "Dyggve-Melchior-Clausen syndrome, X-linked" + "E3 ubiquitin-protein ligase RNF128 measurement" "eugenol sulfate measurement" "GM17108" "protein FAM151A measurement" @@ -56650,8 +56655,8 @@ "MCIXC" "melanocortin-2 receptor accessory protein" "Marshall syndrome" - "small ubiquitin-related modifier 4" "Proteus syndrome" + "small ubiquitin-related modifier 4" "isolated growth hormone deficiency type IA" "carcinoembryonic antigen-related cell adhesion molecule 4" "carotid artery measurement" @@ -56696,9 +56701,9 @@ "obsolete short stature-delayed bone age due to thyroid hormone metabolism deficiency" "Anti-varicella zoster virus IgG measurement" "chromosome 17p13.1 deletion syndrome" - "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome" "level of RalBP1-associated Eps domain-containing protein 2 in blood" "obsolete_oculocutaneous albinism type 5" + "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome" "3-hydroxyisobutyric aciduria" "Cyanophage S-BnM1" "obsolete_carpotarsal osteochondromatosis" @@ -56748,8 +56753,8 @@ "CS57740" "level of lymphocyte antigen 6 complex locus protein G6d in blood serum" "obsolete_X-linked spondyloepimetaphyseal dysplasia" - "nuclear factor erythroid 2-related factor 2" "placental site trophoblastic tumor" + "nuclear factor erythroid 2-related factor 2" "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis" "obsolete_alpha-N-acetylgalactosaminidase deficiency type 3" "15q11q13 microduplication syndrome" @@ -56765,8 +56770,8 @@ "Limitation of neck motion" "combined oxidative phosphorylation deficiency 41" "microcephaly, growth restriction, and increased sister chromatid exchange 2" - "level of RAC-gamma serine/threonine-protein kinase in blood" "obsolete_distal monosomy 12p" + "level of RAC-gamma serine/threonine-protein kinase in blood" "sperm-associated antigen 11B measurement" "level of BOS complex subunit NCLN in blood" "immunodeficiency, common variable, 10" @@ -56817,17 +56822,17 @@ "3MC syndrome" "carbohydrate sulfotransferase 5 measurement" "dehydroepiandrosterone sulphate measurement" - "Congenital absence of upper arm and forearm with hand present, bilateral" "T47D:A18" "level of cullin-4B in blood serum" "obsolete periodic paralysis with transient compartment-like syndrome" + "Congenital absence of upper arm and forearm with hand present, bilateral" "cerebral arterial disease" "GM17190" "n-lysine methyltransferase SMYD2 measurement" - "obsolete_bird headed-dwarfism, Montreal type" "obsolete_presumptive rhombomere 4" "amelanotic skin melanoma" "level of keratin, type I cytoskeletal 19 in blood serum" + "obsolete_bird headed-dwarfism, Montreal type" "obsolete_basal encephalocele" "kidney angiomyolipoma" "Congenital factor II deficiency" @@ -56904,9 +56909,9 @@ "Secondary glaucoma due to a proliferation and differentiation anomaly" "technician" "obsolete_colorectal cancer" - "level of ADP-ribosylation factor-binding protein GGA3 in blood serum" "acquired pituitary hormone deficiency" "level of Phosphatidylcholine (18:0_22:6) in blood serum" + "level of ADP-ribosylation factor-binding protein GGA3 in blood serum" "frizzled-1" "Channelopathy-associated congenital insensitivity to pain" "level of TBC1 domain family member 22B in blood serum" @@ -56916,10 +56921,10 @@ "integrin alpha-I: beta-1 complex measurement" "hemihyperplasia-multiple lipomatosis syndrome" "obsolete_autosomal recessive lymphoproliferative disease" - "syphilitic aortitis" "GM17738" "anti-SARS-CoV-2 IgG measurement"@en "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" + "syphilitic aortitis" "Hepatic necrosis" "vitamin D" "Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type" @@ -56953,9 +56958,9 @@ "zebra body myopathy" "proline-rich AKT1 substrate 1" "obsolete_Megacystis-microcolon-intestinal hypoperistalsis syndrome" + "Hypomyelination neuropathy - arthrogryposis" "X-linked Mendelian susceptibility to mycobacterial diseases" "pemphigoid gestationis" - "Hypomyelination neuropathy - arthrogryposis" "4-acetamidobutanoate-to-X-03056--N-[3-(2-Oxopyrrolidin-1-yl)propyl]acetamide ratio" "mixed sex population" "craniosynostosis syndrome, autosomal recessive" @@ -56978,8 +56983,8 @@ "level of band 4.1-like protein 5 in blood" "Abnormal blood ion concentration" "hereditary angioedema with normal C1Inh" - "SPO" "cholesterol in IDL measurement " + "SPO" "isolated autosomal dominant hypomagnesemia, Glaudemans type" "cleft lip and alveolus" "thymic T cell selection" @@ -57017,9 +57022,9 @@ "cortical thymoma" "obsolete non-infectious posterior uveitis" "Scott syndrome" - "Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" "small intestine primordium" "primary failure of tooth eruption" + "Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" "SET-2" "level of phosphofurin acidic cluster sorting protein 2 in blood" "response to quetiapine" @@ -57074,9 +57079,9 @@ "zinc finger and BTB domain-containing protein 16" "metastatic" "obsolete_lung (Rattus norvegicus)" + "obsolete_global developmental delay - neuro-ophthalmological abnormalities - seizures - intellectual disability syndrome" "Pulmonary arterial hypertension associated with chronic hemolytic anemia" "Lotus filicaulis" - "obsolete_global developmental delay - neuro-ophthalmological abnormalities - seizures - intellectual disability syndrome" "acquired motor neuron disease" "isochromosomy Yq" "midline cerebral malformation" @@ -57123,14 +57128,14 @@ "mulibrey nanism" "cyclin-dependent kinase 4 inhibitor B" "leukocyte immunoglobulin-like receptor subfamily B member 5" - "intersectin-1 measurement" "cyclazosin hydrochloride" "Onthophagus nigriventris" - "fibula fracture" + "intersectin-1 measurement" "level of cytoglobin in blood serum" "benign neoplasm of spleen" - "Chlamydia pneumoniae seropositivity" + "fibula fracture" "ovarian hyperstimulation syndrome" + "Chlamydia pneumoniae seropositivity" "caspase-5" "syntaxin-2" "obsolete_pigmented paravenous retinochoroidal atrophy" @@ -57141,12 +57146,12 @@ "diacylglycerol (12:0/18:1, 14:0/16:1, 16:0/14:1) [2] measurement" "Dinoroseobacter shibae DFL 12" "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4" - "obsolete_Vitreoretinopathy" "Pu-seq" "bone mineral content measurement" - "basic leucine zipper transcriptional factor ATF-like" "biological process involved in interaction with host" + "basic leucine zipper transcriptional factor ATF-like" "guanylate-binding protein 4" + "obsolete_Vitreoretinopathy" "obsolete_faciocardiorenal syndrome" "Mitochondrial disorder due to a defect in mitochondrial protein synthesis" "vascular cord" @@ -57259,8 +57264,8 @@ "level of single-pass membrane and coiled-coil domain-containing protein 2 in blood serum" "obsolete_trisomy 18" "Isoleucylleucine/leucylisoleucine measurement" - "HapMap cell line" "corpus callosum central volume measurement"@en + "HapMap cell line" "skull base meningioma" "Lactococcus lactis subsp. lactis Il1403" "ATP-dependent 6-phosphofructokinase, muscle type" @@ -57298,8 +57303,8 @@ "fish eye disease" "T-box transcription factor TBX5" "Nystagmus" - "level of protein Smaug homolog 2 in blood serum" "X-06126 measurement" + "level of protein Smaug homolog 2 in blood serum" "free cholesterol in small LDL measurement " "GABAergic neuron" "level of synembryn-A in blood serum" @@ -57372,8 +57377,8 @@ "obsolete_adrenomyodystrophy" "Transverse facial cleft" "multiple cutaneous and mucosal venous malformations" - "lipase member N" "CS57658" + "lipase member N" "Abdominal distention" "17alpha-hydroxypregnenolone 3-sulfate" "level of DNA polymerase epsilon subunit 3 in blood serum" @@ -57444,11 +57449,11 @@ "level of cell division cycle protein 27 in blood" "polyglutamine-binding protein 1" "obsolete_partial duplication of the short arm of chromosome 17" - "height-adjusted body mass index" "trisomy 22" - "regulation of RNA splicing" + "height-adjusted body mass index" "CD37 molecule" "ribose phosphate diphosphokinase activity" + "regulation of RNA splicing" "obsolete_dentinogenesis imperfecta type 2" "obsolete_qualitative or quantitative defects of dysferlin" "Lactobacillus johnsonii" @@ -57610,8 +57615,8 @@ "myeloblastin measurement" "antiphospholipid antibody measurement" "Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay" - "level of TBC1 domain family member 24 in blood serum" "frizzled-2" + "level of TBC1 domain family member 24 in blood serum" "cholestasis-pigmentary retinopathy-cleft palate syndrome" "level of sentrin-specific protease 1 in blood serum" "metformin" @@ -57621,10 +57626,10 @@ "level of cytosolic purine 5'-nucleotidase in blood serum" "GM17743" "systolic heart failure" + "Primary Effusion Lymphoma" "adhesion G-protein coupled receptor G5 measurement" "posterior column ataxia-retinitis pigmentosa syndrome" "galactonate" - "Primary Effusion Lymphoma" "bifunctional coenzyme A synthase" "ADP-ribosylation factor-like protein 5A" "Severe hydrocephalus" @@ -57685,10 +57690,10 @@ "hereditary painful callosities" "properdin measurement" "triglycerides to total lipids in medium LDL percentage " - "echinostomiasis" "baculoviral IAP repeat-containing protein 3 measurement" - "level of 40S ribosomal protein S3a in blood serum" + "echinostomiasis" "Hemoglobin C Measurement" + "level of 40S ribosomal protein S3a in blood serum" "butyrophilin-like protein 3" "O(4')-sulfo-L-tyrosine" "Ovine herpesvirus 2" @@ -57710,17 +57715,17 @@ "SK-UT-2 " "NOD.B6" "oophoritis" - "2-aminooctanoate measurement" "citrate synthase, mitochondrial" - "blood N-acetylcarnosine measurement" + "2-aminooctanoate measurement" "Adipic acid measurement" "dentatorubral-pallidoluysian atrophy" + "blood N-acetylcarnosine measurement" "SK-MEL-24" "C57BL/6NCrl" "Crimean-Congo hemorrhagic fever virus" "phagocyte bactericidal dysfunction" - "Hair-pulling" "level of calcipressin-3 in blood serum" + "Hair-pulling" "Gollop-Wolfgang complex" "level of lysophospholipase D GDPD1 in blood serum" "immunoglobulin heavy constant gamma 4 measurement" @@ -57732,8 +57737,8 @@ "syntaxin-1B" "pulmonary valve stenosis" "obsolete_ataxia telangiectasia" - "level of desmocollin-1 in blood serum" "pseudomembranous enterocolitis" + "level of desmocollin-1 in blood serum" "obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome" "level of membrane-bound transcription factor site-1 protease in blood serum" "lung structure" @@ -57822,9 +57827,9 @@ "Autosomal recessive facio-digito-genital syndrome" "Orthocoronavirinae infectious disease" "collagen alpha-1(XXVI) chain measurement" - "phosphatidylcholine O-36:5" "level of mitochondrial import inner membrane translocase subunit Tim8 A in blood serum" "level of securin in blood serum" + "phosphatidylcholine O-36:5" "protein FAM163B" "Tyrosinemia type 1" "N-acetyl-L-tryptophan" @@ -59981,6 +59986,7 @@ "N-acetyl glutamate synthetase deficiency" "N-acetylglutamate synthase deficiency" "hyperammonemia due to N-acetylglutamate synthetase deficiency" + "hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" "1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole" "Daktarin IV" "Monistat IV (TN)" @@ -59988,7 +59994,6 @@ "(+-)-miconazole" "rac-miconazole" "(RS)-miconazole" - "hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" "multinodular goiter/cystic renal disease/digital anomalies" "Daneman Davy Mancer syndrome" "goiter, multinodular, cystic renal disease, and digital anomalies" @@ -60634,11 +60639,11 @@ "arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities" "arthrogryposis multiplex congenita, distal, type 2B" "oxylipins" + "amyotrophy, thenar, of carpal origin" + "CTS" "4-HPB" "Betuligenol" "Rhododendrol" - "amyotrophy, thenar, of carpal origin" - "CTS" "RUIJS-Aalfs syndrome" "RJALS" "Bet" @@ -60840,6 +60845,9 @@ "X-linked mental retardation Hamel type" "X-linked intellectual disability, Siderius type" "intellectual disability X-linked Siderius type" + "Charcot-Marie-Tooth disease, recessive intermediate, B" + "Charcot-Marie-Tooth neuropathy, recessive Intermediate B" + "Charcot-Marie-Tooth disease, recessive intermediate B" "type I DNA topoisomerase inhibitors" "topoisomerase I inhibitors" "EC 5.99.1.2 (topoisomerase I) inhibitors" @@ -60853,9 +60861,6 @@ "EC 5.99.1.2 inhibitors" "EC 5.99.1.2 inhibitor" "type I DNA topoisomerase inhibitor" - "Charcot-Marie-Tooth disease, recessive intermediate, B" - "Charcot-Marie-Tooth neuropathy, recessive Intermediate B" - "Charcot-Marie-Tooth disease, recessive intermediate B" "polydactyly, preaxial III" "index finger polydactyly" "polydactyly, preaxial 3" @@ -62457,11 +62462,11 @@ "cleft lip with or without cleft palate, nonsyndromic, 6" "OFC6" "susceptibility to orofacial cleft 6" - "calicheamicin gamma(1,I)" "Calicheamicin gamma(1)I" "calicheamicin gamma1" "Calichemicin gamma1" "calicheamicin gamma(1)I" + "calicheamicin gamma(1,I)" "HbS disease" "HPA1" "HPA 1 recognition polymorphism, beta-globin-related" @@ -63072,6 +63077,10 @@ "Thrombocytopathy asplenia miosis" "STRMK" "Stormorken-Sjaastad-Langslet syndrome" + "pain, nerve" + "pain, neuropathic" + "paroxysmal nerve pains" + "paroxysmal nerve pain" "thyroid gland follicular adenoma of oxyphilic cell type" "thyroid oncocytic adenoma" "oncocytic adenoma of the thyroid gland" @@ -63097,10 +63106,6 @@ "follicular adenoma of the thyroid gland of the oxyphilic cell type" "benign oncocytoma of thyroid gland" "benign thyroid gland oncocytoma" - "pain, nerve" - "pain, neuropathic" - "paroxysmal nerve pains" - "paroxysmal nerve pain" "octanedioate(2-)" "suberate" "C8-DCA(2-)" @@ -63139,8 +63144,8 @@ "juvenile intestinal polyposis" "jPS" "presynaptic congenital myasthenic syndromes" - "Crbm" "RCCX1" + "Crbm" "bacterial skin disease" "diseases, bacterial skin" "skin disease, bacterial" @@ -64966,13 +64971,13 @@ "agammaglobulinemia and achondroplasia" "Slsd with SCID" "achondroplasia so-called and severe combined immunodeficiency" - "4-NITRO-2-PHENOXYMETHANESULFONANILIDE" - "4'-nitro-2'-phenoxymethanesulfonanilide" "absence of fingerprints congenital milia" "Basan syndrome" "absence of dermatoglyphics congenital milia" "ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease" "adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities" + "4-NITRO-2-PHENOXYMETHANESULFONANILIDE" + "4'-nitro-2'-phenoxymethanesulfonanilide" "loose anagen hair syndrome" "SMA1 with congenital bone fractures" "spinal muscular atrophy type 1 with congenital bone fractures" @@ -67603,14 +67608,14 @@ "DMAT" "systemic fungal infection" "MRMV2" - "muscular dystrophy, congenital, type 1D" - "muscular dystrophy, congenital, large-related" "WB-4101" "WB4101" "WB 4101" "(2-(2',6'-Dimethoxy)phenoxyethylamino)methylbenzo-1,4-dioxane" "(2-(2',6'-Dimethoxy)phenoxyethylamino)methylbenzodioxan" "N-(2-(2,6-Dimethoxyphenoxy)ethyl)-2,3-dihydro-1,4-benzodioxin-2-methanamine" + "muscular dystrophy, congenital, type 1D" + "muscular dystrophy, congenital, large-related" "saccharidum" "glucido" "glucide" @@ -68419,6 +68424,7 @@ "costovertebral dysplasia" "spondylocostal dysostosis 1, autosomal recessive" "SCDO1" + "hepatic cystic hamartoma" "Camptothecine" "CPT" "(+)-camptothecine" @@ -68427,7 +68433,6 @@ "21,22-Secocamptothecin-21-oic acid lactone" "(+)-camptothecin" "(S)-(+)-camptothecin" - "hepatic cystic hamartoma" "sinus bradycardia syndrome, familial, autosomal dominant" "SSS2" "atrial fibrillation with Bradyarrhythmia" @@ -69650,8 +69655,8 @@ "thumbs and great toes, short and abducted" "2-hydroxy-3-phenylacrylate" "2-Hydroxy-3-phenylpropenoate" - "pseudorubella" "FMD" + "pseudorubella" "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" "ichthyosis follicularis atrichia photophobia syndrome" "3-hydroxyacyl-CoA dehydrogenase long chain deficiency" @@ -69713,15 +69718,15 @@ "cleft palate, hypotelorism, and hypospadias" "hypotelorism cleft palate hypospadias" "ocular hypotelorism, submucosal cleft palate, and hypospadias" - "multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism" - "multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism" - "Chudley Rozdilsky syndrome" - "Chudley syndrome" "primary somatic sensory cortex" "somatosensory area" "somatosensory areas" "somesthetic area" "somatic sensory cortex" + "multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism" + "multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism" + "Chudley Rozdilsky syndrome" + "Chudley syndrome" "dermatitis exfoliativa" "exfoliative Dermatitides" "Dermatitides, exfoliative" @@ -69779,10 +69784,10 @@ "macular dystrophy, vitelliform, 2" "Best vitelliform macular dystrophy, multifocal" "macular Degeneration, polymorphic vitelline" - "p-NK" "CILD45" "Ciliary Dyskinesia, Primary, 45, Without Situs Inversus" "CILIARY DYSKINESIA, PRIMARY, 45" + "p-NK" "squamous cell carcinoma of the hypopharynx" "AIS" "mandibular hypoplasia, deafness, progeroid features" @@ -73611,7 +73616,6 @@ "hypersarcosinemia" "SARD deficiency" "sarcosine dehydrogenase complex deficiency" - "4-Propyl-2-thiouracil" "2-Mercapto-6-propylpyrimid-4-one" "2-Mercapto-6-propyl-4-pyrimidone" "6-Thio-4-propyluracil" @@ -73627,6 +73631,7 @@ "6-Propylthiouracil" "6-propyl-2-thioxo-2,3-dihydropyrimidin-4(1H)-one" "propiltiouracilo" + "4-Propyl-2-thiouracil" "multiple coagulation Factor deficiency 1" "factor V and factor VIII, combined deficiency of, 1" "F5F8D1" @@ -74826,10 +74831,10 @@ "pia-arachnoid of neuraxis" "arachnoidea mater et pia mater" "arachnoid mater and pia mater" - "bone mineral density quantitative trait locus" - "osteoporosis, postmenopausal" "hyperinsulinemic hypoglycemia, familial, 5" "HHF5" + "bone mineral density quantitative trait locus" + "osteoporosis, postmenopausal" "(-)-epigallocatechin gallate" "epigallocatechin 3-gallate" "L-epigallocatechin gallate" @@ -75601,11 +75606,11 @@ "anonychia and absence/hypoplasia of distal phalanges" "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" "CVID7" + "pyometrium" "Cockayne syndrome type A" "CSA" "Cockayne syndrome classical" "Cockayne syndrome classic form" - "pyometrium" "acute bronchitis and bronchiolitis" "recurrent wheezy bronchitis" "chest infection" @@ -76068,6 +76073,18 @@ "Marfanoid-progeroid syndrome" "Marfan-progeroid-lipodystrophy syndrome" "MFLS" + "CE(18:0)" + "Cholesteryl octadecanoate" + "18:0 Cholesteryl ester" + "cholesterol stearate" + "Cholesterol stearate" + "cholesteryl octadecanoate" + "3beta-octadecanoyloxycholest-5-ene" + "cholest-5-en-3beta-yl octadecanoate" + "Cholest-5-en-3-beta-yl octadecanoate" + "Cholestryl stearate" + "cholest-5-en-3beta-yl stearate" + "Cholest-5-en-3-beta-yl stearate" "murine typhus" "classical typhus (fever)" "Mexican typhus" @@ -76092,18 +76109,6 @@ "ship fever" "petechial fever" "gaol fever" - "CE(18:0)" - "Cholesteryl octadecanoate" - "18:0 Cholesteryl ester" - "cholesterol stearate" - "Cholesterol stearate" - "cholesteryl octadecanoate" - "3beta-octadecanoyloxycholest-5-ene" - "cholest-5-en-3beta-yl octadecanoate" - "Cholest-5-en-3-beta-yl octadecanoate" - "Cholestryl stearate" - "cholest-5-en-3beta-yl stearate" - "Cholest-5-en-3-beta-yl stearate" "combined immunodeficiency due to TFRC deficiency" "Posterior Uveitis" "posterior uveitis (disease)" @@ -77130,7 +77135,6 @@ "Iron(III)dicitrate" "Fe(III)dicitrate" "iron(III) dicitrate" - "genetic cardiac tumor" "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia" "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anaemia" "osteosarcoma, limb anomalies, and macrocytosis" @@ -77142,6 +77146,7 @@ "epilepsy, progressive myoclonic, 2A" "Epm2" "epilepsy, progressive myoclonic, 2B" + "genetic cardiac tumor" "TTM" "notochordal cancer" "duodenal benign neoplasm" @@ -79964,8 +79969,8 @@ "placental villus" "chorionic villus" "placental villi" - "villous of placenta" "chorionic villous" + "villous of placenta" "embryonic placenta" "neutral lipid storage disease without ichthyosis" "triglyceride deposit cardiomyovasculopathy" @@ -81204,10 +81209,10 @@ "tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG" "X-linked infantile spasms" "West's syndrome" - "MYOPIA 27" - "MYP27" "CRS5" "susceptibility to craniosynostosis 5" + "MYOPIA 27" + "MYP27" "histiocytosis, non-Langerhans-cell" "D-cis-diltiazem" "(+)-cis-5-[2-(dimethylamino)ethyl]-2,3-dihydro-3-hydroxy-2-(p-methoxyphenyl)-1,5-benzothiazepin-4(5H)-one acetate ester" @@ -82330,10 +82335,10 @@ "isobutanoylglycine" "Generalized overgrowth" "Generalised overgrowth" - "T cell deficiency" "Paid syndrome" "Griscelli disease type 2" "Griscelli syndrome, type 2" + "T cell deficiency" "Rectal prolapsed" "cephalic region" "head or neck" @@ -83982,11 +83987,11 @@ "FINCA" "FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS" "susceptibility to aspergillosis" - "anatomical systems" "small cell carcinoma - intermediate cell" "small cell carcinoma, intermediate cell (morphologic abnormality)" "intermediate cell small cell carcinoma" "small cell carcinoma, intermediate cell" + "anatomical systems" "fatty aldehyde dehydrogenase deficiency" "ichthyosis, spastic neurologic disorder, and oligophrenia" "FALDH deficiency" @@ -84688,8 +84693,8 @@ "Intertrigo" "Erythema intertrigo" "Eczema intertrigo" - "crescentic glomerulonephritis" "AKV" + "crescentic glomerulonephritis" "pancreatic acinar carcinoma" "1,1,1-trichloro-2,2-bis(p-anisyl)ethane" "2,2-di(p-methoxyphenyl)-1,1,1-trichloroethane" @@ -85645,6 +85650,7 @@ "N(5)-carbamoyl-DL-ornithine" "hematologic cancer" "malignant haematopoietic neoplasm" + "selt" "epidermolysis bullosa dystrophica with subcorneal cleavage" "Albopapuloid dominant dystrophic epidermolysis bullosa" "epidermolysis bullosa dystrophica, Pasini type" @@ -85658,7 +85664,6 @@ "epidermolysis bullosa dystrophica, autosomal dominant" "epidermolysis bullosa dystrophica, Pasini type (formerly)" "dominant dystrophic epidermolysis bullosa" - "selt" "Multiple, subcutaneous nodules" "Subcutaneous nodules" "dodecanedioate" @@ -86039,9 +86044,9 @@ "dithioglycerine" "Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability" "Ehlers-Danlos syndrome with progeroid facies and mild mental retardation" + "basophil adenoma" "ligamentum latum uteri" "broad ligament" - "basophil adenoma" "WOODS syndrome" "cerebellar hypoplasia with pancytopenia" "Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia" @@ -86302,9 +86307,9 @@ "abdominal fat" "neuroendocrine tumor of anal canal" "neuroendocrine tumour of anal canal" + "ulnar-mammary syndrome of Pallister" "pulmonary lymphangiomyomatosis" "lymphangioleiomyomatosis" - "ulnar-mammary syndrome of Pallister" "lipodystrophy, type B, associated with Mandibuloacral dysplasia" "MANDIBULOACRAL dysplasia with type B lipodystrophy" "MADB" @@ -86515,14 +86520,14 @@ "mucopolysaccharidosis, type IIIC" "Sanfilippo syndrome C" "MPS 3C" - "brachydactyly, type E" - "brachydactyly, type E1" "nonspecific intellectual disability associated with retinitis pigmentosa" "chromosome Xp11.3 deletion syndrome" "X-linked mental handicap-retinitis pigmentosa syndrome" "nonspecific mental retardation associated with retinitis pigmentosa" "intellectual disability, X-linked, with retinitis pigmentosa" "mental retardation, X-linked, with retinitis pigmentosa" + "brachydactyly, type E" + "brachydactyly, type E1" "breast duct papilloma" "STS deficiency" "X linked ichthyosis" @@ -89251,9 +89256,9 @@ "SCA" "4-[2-methoxy-5-({[2'-methyl-4'-(5-methyl-1,2,4-oxadiazol-3-yl)biphenyl-4-yl]carbonyl}amino)phenyl]-1-methylpiperazin-1-ium chloride" "GR127935 hydrochloride" + "GBASC" "ptosis, strabismus, and ectopic pupils" "ptosis strabismus ectopic pupils" - "GBASC" "rhabdomyosarcoma alveolar" "rhabdomyosarcoma, alveolar" "rhabdomyosarcoma 2" @@ -89848,8 +89853,8 @@ "metamfetaminum" "(alphaS)-N,alpha-dimethylbenzeneethanamine" "d-N-methylamphetamine" - "metamfetamine" "(+)-(S)-N-alpha-dimethylphenethylamine" + "metamfetamine" "methyl-beta-phenylisopropylamine" "metanfetamina" "d-deoxyephedrine" @@ -91052,19 +91057,6 @@ "third pharyngeal pouch" "spastic paraplegia 12" "spastic paraplegia 12, autosomal dominant" - "Cco" - "neuromuscular disease, congenital, with uniform type 1 Fiber" - "CCD" - "multiminicore disease, moderate, with hand involvement" - "Shy-Magee syndrome" - "minicore myopathy, moderate, with hand involvement" - "myopathy, central fibrillar" - "central CORE disease of muscle" - "multicore myopathy, moderate, with hand involvement" - "muscular central core disease" - "neuromuscular disease, congenital, with uniform type 1 Fibre" - "muscle core disease" - "myopathy, central core" "CDDP" "cis-diamminedichloroplatinum" "Lederplatin" @@ -91088,6 +91080,19 @@ "cis-platin" "cisplatin" "Peyrone's chloride" + "Cco" + "neuromuscular disease, congenital, with uniform type 1 Fiber" + "CCD" + "multiminicore disease, moderate, with hand involvement" + "Shy-Magee syndrome" + "minicore myopathy, moderate, with hand involvement" + "myopathy, central fibrillar" + "central CORE disease of muscle" + "multicore myopathy, moderate, with hand involvement" + "muscular central core disease" + "neuromuscular disease, congenital, with uniform type 1 Fibre" + "muscle core disease" + "myopathy, central core" "beta-hydroxydodecanoate" "beta-hydroxylaurate" "3-OH-C12:0(1-)" @@ -93494,10 +93499,10 @@ "1,1-dimethylbiguanide" "LA 6023" "N,N-dimethylimidodicarbonimidic diamide" + "AIDS-related lymphoma" "Pcarp" "POSTERIOR column ataxia with retinitis pigmentosa" "AXPC1" - "AIDS-related lymphoma" "prostate tumor cell" "prostate carcinoma cell" "prostate tumour cell" @@ -95517,11 +95522,11 @@ "nuclear chromosome, telomere" "nuclear chromosome, telomeric region" "secondary hyperparathyroidism NOS" - "mitotic spindle organisation in nucleus" "mitotic spindle organization in nucleus" "spindle organization and biogenesis in nucleus during mitosis" "mitotic spindle organization and biogenesis in cell nucleus" "mitotic spindle organization and biogenesis in nucleus" + "mitotic spindle organisation in nucleus" "Mendelian disease" "butyryl dehydrogenase" "butanoyl-CoA dehydrogenase" @@ -97830,8 +97835,8 @@ "X-linked intellectual disability, Renpenning type" "X-linked intellectual disability due to PQBP1 mutations" "blood pro-MCH amount" - "blood protein canopy homolog 4 amount" "HCHWA, Iowa type" + "blood protein canopy homolog 4 amount" "blood serum ADP-ribosylation factor-like protein 2 amount" "ascorbic acid deficiency" "deficiency of vitamin C" @@ -98070,9 +98075,9 @@ "Proteostasis deficiency" "deficiencies, Proteostasis" "Proteostasis dysfunction" + "SPG12" "blood serum keratin, type I cuticular Ha4 amount" "blood coagulation, platelet activation" - "SPG12" "infantile fibrosarcoma (congenital fibrosarcoma)" "infantile fibrosarcoma" "infantile fibrosarcoma (morphologic abnormality)" @@ -98283,8 +98288,8 @@ "Abnormal vision evoked potentials" "Abnormal visual-evoked potentials" "phosphorus metabolism" - "3-(octadecanoyloxy)-4-(trimethylazaniumyl)butanoate" "3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid" + "3-(octadecanoyloxy)-4-(trimethylazaniumyl)butanoate" "late-onset infantile spasms" "Gonadotropin-dependant precocious puberty" "gonadotropin-dependant precocious puberty" @@ -98882,8 +98887,8 @@ "SCNN1G bronchiectasis" "bronchiectasis caused by mutation in SCNN1G" "bronchiectasis with or without elevated sweat chloride 3" - "male organism reproductive system organ" "male organism reproductive organ" + "male organism reproductive system organ" "male reproductive gland/organ" "reproductive structure of male organism" "male reproductive system organ" @@ -99028,8 +99033,8 @@ "prostate phyllodes tumor, benign" "benign phyllodes tumour of prostate" "benign prostate phyllodes neoplasm" - "labeling protocol" "blood serum SH3 domain-containing kinase-binding protein 1 amount" + "labeling protocol" "level of phosphatidylcholine 16:0_18:0 in blood serum" "blood serum phosphatidylcholine 16:0_18:0 amount" "blood serum protein FAM162B amount" @@ -99371,12 +99376,12 @@ "neurohypophysis granular cell tumor" "benign FMTLE" "VSCN2" + "Bromobenzene" + "bromobenzene" "uveitis" "uveitis (disease)" "inflammation of uvea" "uvea inflammation" - "Bromobenzene" - "bromobenzene" "postprandial lipidemia" "Harper's syndrome" "bird-headed dwarfism" @@ -99612,13 +99617,13 @@ "cancer of sigmoid colon" "malignant tumor of sigmoid colon" "sigmoid colon cancer" - "Streptococcus pyogenes strain MGAS6180" - "Streptococcus pyogenes str. MGAS6180" - "Abnormal liver function tests during pregnancy" "leukedema of mouth" "oral leukoedema" "Leukoedema, Oral" "Leukedema of mouth" + "Streptococcus pyogenes strain MGAS6180" + "Streptococcus pyogenes str. MGAS6180" + "Abnormal liver function tests during pregnancy" "blood sodium/potassium-transporting ATPase subunit beta-1 amount" "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" "neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities" @@ -99916,7 +99921,15 @@ "up regulation of blood platelet aggregation" "positive regulation of blood platelet aggregation" "tammar wallaby" - "benign tumor of the cerebral hemispheres" + "adenocarcinoma of the small bowel" + "adenocarcinoma of small bowel" + "small bowel adenocarcinoma" + "adenocarcinoma of small instestine" + "small intestine adenocarcinoma" + "adenocarcinoma - small intest." + "adenocarcinoma of the small intestine" + "small intestinal adenocarcinoma" + "adenocarcinoma of small intestine" "benign cerebral hemispheric tumor" "benign tumor of cerebral hemispheres" "benign tumour of cerebrum" @@ -99934,15 +99947,7 @@ "benign neoplasm of the cerebrum" "benign cerebral hemispheric tumour" "benign neoplasm of the cerebral hemispheres" - "adenocarcinoma of the small bowel" - "adenocarcinoma of small bowel" - "small bowel adenocarcinoma" - "adenocarcinoma of small instestine" - "small intestine adenocarcinoma" - "adenocarcinoma - small intest." - "adenocarcinoma of the small intestine" - "small intestinal adenocarcinoma" - "adenocarcinoma of small intestine" + "benign tumor of the cerebral hemispheres" "H1648" "David syndrome" "GM17839 cell" @@ -100188,12 +100193,12 @@ "CTSC-related disorder" "blood indole-3-butyric acid amount" "blood serum calcineurin B homologous protein 3 amount" - "Monosomy 20p13" - "20p subtelomeric deletion syndrome" - "Del(20)(p13)" "Kocher-Debré-Semelaigne syndrome" "Hoffman syndrome" "blood serum platelet factor 4 variant amount" + "Monosomy 20p13" + "20p subtelomeric deletion syndrome" + "Del(20)(p13)" "Infective Endocarditis" "Endocarditides" "endocardium inflammation" @@ -100235,6 +100240,7 @@ "Cleft ribs" "blood probable ATP-dependent RNA helicase DDX53 amount" "blood serum hydroxyacylglutathione hydrolase-like protein amount" + "Ray-Peterson-Scott syndrome" "blood serum inosine triphosphate pyrophosphatase amount" "tumour of hypopharynx" "hypopharynx tumor" @@ -100250,7 +100256,6 @@ "neoplasm of hypopharynx" "hypopharynx neoplasm (disease)" "hypopharyngeal tumour" - "Ray-Peterson-Scott syndrome" "Ventricular Hypertrophies, Left" "Hypertrophy, Left Ventricular" "Ventricular Hypertrophy, Left" @@ -100362,8 +100367,8 @@ "epidermoid carcinoma of the maxillary sinus" "maxillary sinus epidermoid carcinoma" "maxillary antrum squamous cell carcinoma" - "epidermoid carcinoma of maxillary antrum" "epidermoid carcinoma of maxillary sinus" + "epidermoid carcinoma of maxillary antrum" "squamous cell carcinoma of maxillary sinus" "squamous cell carcinoma of the maxillary antrum" "maxillofacial sinus squamous cell carcinoma" @@ -100476,12 +100481,12 @@ "WNK4 pseudohypoaldosteronism type 2" "granulocytic sarcoma" "sarcoma, granulocytic, malignant" + "blood serum beta-defensin 132 amount" "Uveoparotid Fever" "Heerfordt's syndrome (disorder)" "Heerfordt's syndrome" "Uveoparotid fever" "uveoparotid fever" - "blood serum beta-defensin 132 amount" "segmental intercostal arteries" "talipes equinovarus" "congenital talipes equinovarus" @@ -100874,12 +100879,12 @@ "Luys' body" "nucleus subthalamicus" "apoplast" + "Red palms disease" + "Lane disease" "uvula palatina" "uvula of palate" "uvula" "palatine uvula" - "Red palms disease" - "Lane disease" "AIMAH2" "primary macronodular adrenal hyperplasia" "Joubert syndrome 37" @@ -101441,8 +101446,8 @@ "cardiopulmonary arrest" "circulatory arrest" "blood serum ankyrin repeat and SOCS box protein 13 amount" - "dry mouth" "blood serum NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial amount" + "dry mouth" "pulmonary adenocarcinoma of fetal type" "fetal adenocarcinoma" "WDFA" @@ -101764,11 +101769,11 @@ "sound quality of vocal organ" "spondylometaphyseal dysplasia, Sutcliffe type" "blood serum aldo-keto reductase family 1 member C4 amount" + "blood serum syntaxin-2 amount" "MTDPS16B" "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)" "tubular aggregate myopathy" "myopathy, tubular aggregate, type 1" - "blood serum syntaxin-2 amount" "Enlarged cornea" "Anterior megalophthalmos" "Increased corneal diameter" @@ -102606,10 +102611,10 @@ "seborrheic verruca" "keratosis Seborrheica" "keratosis, seborrheic" + "caffeine consumption" "urocanic aciduria" "urocanic aciduria (disease)" "encephalopathy due to urocanase deficiency" - "caffeine consumption" "hematologic disorder" "Hematologic Diseases" "haematopoietic disease" @@ -103258,7 +103263,6 @@ "mixed germ cell tumour of central nervous system of childhood" "childhood mixed germ cell tumour of central nervous system" "mixed germ cell tumor of central nervous system of childhood" - "auditory system disease" "ear disorder NOS" "otological disease" "auditory disease" @@ -103274,6 +103278,7 @@ "disorder of auditory system" "ear and mastoid disease" "disorder of ear" + "auditory system disease" "epithelial neoplasm, benign" "benign tumour of the epithelium" "epithelioma, benign" @@ -103440,12 +103445,12 @@ "oral cavity disorder" "disease or disorder of mouth" "mouth disease" - "Miconazole" - "rac-1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole" "HANAC syndrome" "hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome" "HANAC" "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps" + "Miconazole" + "rac-1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole" "thyroid-renal-digital anomalies" "Daneman-Davy-Mancer syndrome" "blood serum protein transport protein Sec61 subunit beta amount" @@ -103731,13 +103736,13 @@ "syndrome associated with inherited ichthyosis" "syndromic inherited ichthyosis" "blood serum Sterol ester (27:1/20:4) amount" - "blood serum ATP-dependent RNA helicase A amount" "Etoposide" "(5S,5aR,8aR,9R)-9-(4-hydroxy-3,5-dimethoxyphenyl)-8-oxo-5,5a,6,8,8a,9-hexahydrofuro[3',4':6,7]naphtho[2,3-d][1,3]dioxol-5-yl 4,6-O-[(1R)-ethylidene]-beta-D-glucopyranoside" "myofibromatosis caused by mutation in PDGFRB" "PDGFRB myofibromatosis" "myofibromatosis, infantile, 1" "myofibromatosis, infantile, type 1" + "blood serum ATP-dependent RNA helicase A amount" "MCPH1 autosomal recessive primary microcephaly" "autosomal recessive primary microcephaly caused by mutation in MCPH1" "microcephaly 1, primary, autosomal recessive" @@ -103856,6 +103861,13 @@ "paroxysmal finger hematoma" "Achenbach syndrome" "paroxysmal hematoma of the finger" + "malignant melanoma of meninges" + "melanoma of the leptomeninges" + "melanoma (disease) of leptomeninx" + "leptomeningeal melanoma" + "meningeal melanoma" + "leptomeninx melanoma" + "leptomeninx melanoma (disease)" "benign ciliary body tumour" "benign ciliary body tumor" "benign neoplasm of the ciliary body" @@ -103865,13 +103877,6 @@ "ciliary body benign neoplasm" "benign tumour of ciliary body" "benign tumour of the ciliary body" - "malignant melanoma of meninges" - "melanoma of the leptomeninges" - "melanoma (disease) of leptomeninx" - "leptomeningeal melanoma" - "meningeal melanoma" - "leptomeninx melanoma" - "leptomeninx melanoma (disease)" "tooth agenesis, selective, type 7" "tooth agenesis, selective, 7" "tooth agenesis caused by mutation in LRP6" @@ -103903,7 +103908,6 @@ "GYG1 polyglucosan body myopathy" "polyglucosan body myopathy caused by mutation in GYG1" "blood fibronectin type III domain-containing protein 4 amount" - "purine nucleoside metabolism" "Orchititis" "Orchitis" "Inflammation of testis" @@ -103913,6 +103917,7 @@ "testisitis" "Inflammation of testis (disorder)" "testis inflammation" + "purine nucleoside metabolism" "SPDRS" "infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome" "salt-and-pepper syndrome" @@ -104252,7 +104257,6 @@ "Monosomy 1p31p32" "3-methylhistidine" "2-amino-3-(1-methyl-1H-imidazol-5-yl)propanoic acid" - "blood E3 ubiquitin-protein ligase RNF5 amount" "GM17805 cell" "Lambdoid suture craniosynostosis" "Lambdoid suture synostosis" @@ -104261,6 +104265,7 @@ "X-linked stapes gusher syndrome" "X-linked mixed conductive and sensorineural hearing loss" "DFNX2" + "blood E3 ubiquitin-protein ligase RNF5 amount" "adult T-cell leukaemia" "T-cell leukemia of adults" "ATLL" @@ -104528,6 +104533,8 @@ "Macular Leprosies" "Leprosy, Tuberculoid" "Tuberculoid leprosy [type T]" + "Isolated mitochondrial respiratory chain complex IV deficiency" + "Isolated COX deficiency" "adenosarcoma of the body of uterus" "adenosarcoma of uterine body" "uterine corpus Mullerian adenosarcoma" @@ -104541,8 +104548,6 @@ "uterine corpus adenosarcoma" "adenosarcoma of the uterine body" "body of uterus adenosarcoma" - "Isolated mitochondrial respiratory chain complex IV deficiency" - "Isolated COX deficiency" "Contractures" "Fukuhara syndrome" "myoclonic epilepsy- ragged red fibers" @@ -104694,8 +104699,8 @@ "mucosa of bowel" "intestine organ mucosa" "bowel organ mucosa" - "intestine mucous membrane" "mucous membrane of bowel" + "intestine mucous membrane" "intestine mucosa of organ" "Bardet-Biedl syndrome 14" "BBS14" @@ -105030,14 +105035,14 @@ "neoplastic syndrome" "tumor syndrome" "blood serum protein transport protein Sec61 subunit gamma amount" - "AR demyelinating HMSN" "Muscular abnormality" + "AR demyelinating HMSN" "blood serum peptidyl-prolyl cis-trans isomerase H amount" "blood serum TNF receptor-associated factor 4 amount" "NEDMISB" "urological diseases" - "urinary system disorder" "diseases, urologic" + "urinary system disorder" "disorder of renal system" "urinary system disease" "disease, urological" @@ -105470,11 +105475,11 @@ "connective tissue tumour" "neoplasm of connective tissues" "connective tissue neoplasm" + "SchneiderSL2" "AIDS related complex" "AIDS-Related Complex" "AIDS-like syndrome" "acquired immune deficiency syndrome (& [ARC])" - "SchneiderSL2" "thalassemia, beta" "thalassemia, hispanic gamma-delta-beta" "High blood phosphate levels" @@ -106395,12 +106400,6 @@ "Acro-fronto-facio-nasal syndrome type 2" "Acro-fronto-facio-nasal dysostosis type 2" "Naguib-Richieri-Costa syndrome" - "ADMERF" - "Hereditary inclusion body myopathy with early respiratory failure" - "Myofibrillar myopathy with early respiratory failure" - "HMERF" - "HIBM-ERF" - "Edström Myopathy" "osteoclast-poor osteopetrosis" "mild autosomal recessive form osteopetrosis" "autosomal recessive osteopetrosis type 2" @@ -106410,6 +106409,12 @@ "OPTB2" "TNFSF11 autosomal recessive osteopetrosis" "autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11" + "ADMERF" + "Hereditary inclusion body myopathy with early respiratory failure" + "Myofibrillar myopathy with early respiratory failure" + "HMERF" + "HIBM-ERF" + "Edström Myopathy" "blood serum polyadenylate-binding protein 5 amount" "mental retardation, autosomal dominant type 8" "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1" @@ -106420,14 +106425,14 @@ "autosomal dominant mental retardation 8" "GRIN1 autosomal dominant non-syndromic intellectual disability" "HCC33" - "Autosomal Dominant Interstitial Kidney Disease" "CME W1" + "Autosomal Dominant Interstitial Kidney Disease" + "blood serum a disintegrin and metalloproteinase with thrombospondin motifs 6 amount" "prion disease pathway" "prion induced disorder" "spongiform encephalopathy" "prion disease" "prion protein disease" - "blood serum a disintegrin and metalloproteinase with thrombospondin motifs 6 amount" "Magnaporthe grisea 70-15" "blood serum ubiquitin-conjugating enzyme E2 B amount" "blood serum Indian hedgehog protein amount" @@ -106737,8 +106742,8 @@ "T-cell childhood acute lymphoblastic leukemia" "childhood T-ALL" "T-cell childhood ALL" - "L-phenylalanylglycine" "blood GTPase IMAP family member 8 amount" + "L-phenylalanylglycine" "HHV-8-related disorder" "arthrogryposis, impaired intellectual development, and seizures" "SLC35A3-CDG" @@ -107099,13 +107104,13 @@ "observed copy number variation" "muscular dystrophy-dystroglycanopathy" "CMD due to dystroglycanopathy" - "Stage R1 Open flower at any node on the main stem" - "Arabidopsis Growth Stage 6.10" - "Arabidopsis Growth Stage 5.10" + "TAG 56:8" "invasive ductal carcinoma cell" "breast infiltrating ductal carcinoma cell" "IDC cell" - "TAG 56:8" + "Stage R1 Open flower at any node on the main stem" + "Arabidopsis Growth Stage 6.10" + "Arabidopsis Growth Stage 5.10" "BBS" "blood voltage-gated potassium channel KCNH2 amount" "Chemokine (C-C motif) ligand 4 level" @@ -107557,12 +107562,12 @@ "eccrine tumors-ectodermal dysplasia" "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome" "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome" + "multiple fractures" + "fractures involving multiple body regions" "Absent/underdeveloped thighbone" "Hypoplastic to absent femora" "Absent/small thighbone" "Hypoplastic/aplastic femora" - "multiple fractures" - "fractures involving multiple body regions" "blood serum serine protease inhibitor Kazal-type 13 amount" "FPLCA" "hereditary primary cutaneous amyloidosis" @@ -107658,12 +107663,12 @@ "blood plasma 9,10-DiHODE amount" "blood serum syntaxin-binding protein 4 amount" "2-hydroxybutane-1,2,4-tricarboxylate" + "Absent end part of bone" + "blood serum polyadenylate-binding protein 2 amount" "Pancreatic insufficiency and bone marrow dysfunction" "Shwachman syndrome" "SDS" "Shwachman-Bodian-Diamond syndrome" - "Absent end part of bone" - "blood serum polyadenylate-binding protein 2 amount" "neurodevelopmental disorder with microcephaly, ataxia, and seizures" "neuroendocrine tumor of esophagus" "esophagus NET" @@ -107786,6 +107791,9 @@ "Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome" "Syndrome of ocular and facial anomalies, telecanthus and deafness" "Diaphragmatic hernia-exomphalos-hypertelorism syndrome" + "encephalomalacia" + "Encephalomalacia" + "Encephalomalacia (disorder)" "blood serum cyclin-dependent kinase 2-associated protein 1 amount" "isolated ventriculoarterial discordance" "congenitally uncorrected transposition of the great vessels" @@ -107793,9 +107801,6 @@ "D-TGA" "congenitally uncorrected transposition of the great arteries" "ventriculoarterial discordance with atrioventricular concordance" - "encephalomalacia" - "Encephalomalacia" - "Encephalomalacia (disorder)" "Salmonella kentucky" "glandula sudorifera apocrina" "2p21 contiguous gene deletion syndrome" @@ -107812,23 +107817,23 @@ "Gestation" "PREGN" "Rh-null syndrome" + "Klippel-Trenaunay-Weber Syndrome" + "angioosteohypertrophy syndrome" + "Haemangiectatic hypertrophy" + "Klippel-Trenaunay-Weber syndrome" "collagen VI-related muscular dystrophy" "collagen VI-related muscle disorder" "collagen VI-related dystrophy" "collagen VI-related myopathy" "collagen 6-related myopathy" - "Klippel-Trenaunay-Weber Syndrome" - "angioosteohypertrophy syndrome" - "Haemangiectatic hypertrophy" - "Klippel-Trenaunay-Weber syndrome" "blood serum leucine-rich repeat-containing protein 3 amount" "blood serum methanethiol oxidase amount" + "Maxillonasal dysostosis" + "Binder syndrome" "AML, 5q31-32 Deletion" "AML, del(5q31-q32)" "AML, del(5)(q31q32)" "AML, del(5)(q31-q32)" - "Maxillonasal dysostosis" - "Binder syndrome" "hereditary sensory and autonomic neuropathy, autosomal recessive" "PRAAS5" "proteasome-associated autoinflammatory syndrome 5" @@ -107965,11 +107970,11 @@ "autosomal dominant cerebellar ataxia caused by mutation in MME" "SMARCA2-related blepharophimosis-intellectual disability syndrome" "Abnormality of tear production" - "blood serum protein Red amount" "T-cell childhood lymphoblastic lymphoma" "T lymphoblastic lymphoma" "childhood precursor T-lymphoblastic lymphoma" "childhood T lymphoblastic lymphoma" + "blood serum protein Red amount" "greasy cutworm moth" "Agrotis ipsolon" "dark sword grass moth" @@ -108224,6 +108229,7 @@ "sense organ subsystem" "sensory subsystem" "sense organs set" + "DYT31" "hypereosinophilic disease" "Idiopathic Hypereosinophilic Syndrome" "Loeffler Endocarditis" @@ -108232,7 +108238,6 @@ "eosinophilic leukocytosis" "hypereosinophilic syndrome" "hypereosinophilic disorder" - "DYT31" "2-aminoadipic 2-oxoadipic aciduria" "alpha-aminoadipic and alpha-ketoadipic aciduria" "alpha-aminoadipic aciduria" @@ -108498,13 +108503,13 @@ "monocytic leukemia, chronic" "blood serum Rho-related GTP-binding protein RhoG amount" "Anomaly of the biliary tract" - "autosomal recessive nonsyndromic hearing loss 98" "Iso-Kikuchi syndrome" "Congenital onychodysplasia of the index fingers" "COIF syndrome" "COIF" - "Trypanosoma brucei strain TREU927" + "autosomal recessive nonsyndromic hearing loss 98" "blood X-linked retinitis pigmentosa GTPase regulator amount" + "Trypanosoma brucei strain TREU927" "Cortical/cerebral visual impairment" "Cortical blindness" "CVI" @@ -108623,13 +108628,13 @@ "blood serum medium-chain acyl-CoA ligase ACSF2, mitochondrial amount" "blood pancreatic secretory granule membrane major glycoprotein GP2 amount" "TOV112D" + "blood receptor-type tyrosine-protein phosphatase C amount" "Pustules" "Pimple" "Pustula" "Skin pustule" "Skin pustules" "Pustular lesion" - "blood receptor-type tyrosine-protein phosphatase C amount" "anterior gray horn of spinal cord" "ventral grey column of spinal cord" "anterior grey column of spinal cord" @@ -109780,8 +109785,8 @@ "Myositis NOS" "Myopathies, Idiopathic Inflammatory" "INFLAMM MUSCLE DIS" - "Focal Myositides" "Muscle Diseases, Inflammatory" + "Focal Myositides" "inflammation of muscle tissue" "Myopathy, Inflammatory" "Myositis unspecified (disorder)" @@ -110022,8 +110027,8 @@ "FIME" "familial infantile myoclonus epilepsy" "myoclonic epilepsy, infantile, familial" - "mixed epithelioid and spindle cell melanoma" "blood serum carcinoembryonic antigen-related cell adhesion molecule 16 amount" + "mixed epithelioid and spindle cell melanoma" "Lujan-Fryns syndrome" "XLMR with marfanoid habitus" "X-linked mental retardation with marfanoid habitus" @@ -110460,8 +110465,8 @@ "cone dystrophy type 3" "blood serum serine protease inhibitor Kazal-type 7 amount" "inherited skin tumor" - "myelofibrosis" "blood serum putative uncharacterized protein ANKRD13C-DT amount" + "myelofibrosis" "lymphoepithelioma-like lung carcinoma" "iron status biomarkers" "iron biomarker level" @@ -110490,10 +110495,6 @@ "neurothekeoma" "nerve sheath Myxoma" "blood serum Rab GTPase-binding effector protein 1 amount" - "adenocarcinoma of duodenum" - "adenocarcinoma of the duodenum" - "duodenal adenocarcinoma" - "duodenum adenocarcinoma" "hereditary spastic paraplegia type 28" "autosomal recessive pure spastic paraplegia caused by mutation in DDHD1" "SPG28" @@ -110506,6 +110507,10 @@ "posterior raphe nucleus" "nucleus raphes dorsalis" "Dorsal raphe" + "adenocarcinoma of duodenum" + "adenocarcinoma of the duodenum" + "duodenal adenocarcinoma" + "duodenum adenocarcinoma" "IPPYV" "birthweight" "blood B-cell CLL/lymphoma 7 protein family member B amount" @@ -110527,12 +110532,12 @@ "Classic apraxia (finding) [Ambiguous]" "ideomotor apraxia" "Limb-kinetic apraxia (finding)" - "Baird syndrome" - "Absence of dermatoglyphics - congenital milia" "4p- syndrome" "Distal monosomy 4p" "Distal deletion 4p" "Telomeric deletion 4p" + "Baird syndrome" + "Absence of dermatoglyphics - congenital milia" "blood serum protein regulator of cytokinesis 1 amount" "Body fails to respond to insulin" "corpus callosum agenesis-blepharophimosis-Robin sequence syndrome" @@ -111291,11 +111296,11 @@ "TREMOR, HEREDITARY ESSENTIAL, 6" "tremor, hereditary essential, 6" "ETM6" - "blood serum carcinoembryonic antigen-related cell adhesion molecule 19 amount" "polyostotic sclerosing histiocytosis" "Erdheim Chester Disease" "lipogranulomatosis" "Erdheim-Chester disease" + "blood serum carcinoembryonic antigen-related cell adhesion molecule 19 amount" "Scholte-Begeer-van Essen syndrome" "blood serum hypoxanthine-guanine phosphoribosyltransferase amount" "adult RDS" @@ -111399,23 +111404,12 @@ "blood serum uncharacterized protein C2orf66 (human) amount" "basal metabolic rate measurement" "BMR measurement" + "soluble adhesion molecule measurement" "disease or disorder of cerebellum" "cerebellum disease" "disorder of cerebellum" "cerebellum disease or disorder" "disease of cerebellum" - "soluble adhesion molecule measurement" - "acinar adenocarcinoma" - "carcinoma of acinar cell" - "acinic cell carcinoma" - "acinic cell adenocarcinoma" - "carcinoma, acinar cell, malignant" - "acinar cell carcinoma" - "acinar cell adenocarcinoma" - "acinar carcinoma" - "acinar cell carcinoma (morphologic abnormality)" - "fast muscle" - "fast skeletal muscle tissue" "vermiform appendix neoplasm (disease)" "tumour of appendix" "tumor of appendix" @@ -111439,6 +111433,17 @@ "Appendix Neoplasm" "Neoplasm, Appendiceal" "neoplasm of vermiform appendix" + "acinar adenocarcinoma" + "carcinoma of acinar cell" + "acinic cell carcinoma" + "acinic cell adenocarcinoma" + "carcinoma, acinar cell, malignant" + "acinar cell carcinoma" + "acinar cell adenocarcinoma" + "acinar carcinoma" + "acinar cell carcinoma (morphologic abnormality)" + "fast muscle" + "fast skeletal muscle tissue" "blood serum Phosphatidylcholine (18:1_18:3) amount" "JEB-nH loc" "fibrochondrogenesis 2" @@ -111613,8 +111618,8 @@ "intestinal diseases" "gastrointestinal disease" "stomach or intestinal disorder" - "Other gallbladder disorders NOS" "[X]Other diseases of the digestive system (disorder)" + "Other gallbladder disorders NOS" "Functional Gastrointestinal Disorder" "RECTAL & ANAL DIS NEC" "DISEASES OF THE DIGESTIVE SYSTEM" @@ -111690,6 +111695,7 @@ "sn-Glycerol 3-phosphate" "sn-glycerol 3-(dihydrogen phosphate)" "(2R)-2,3-dihydroxypropyl dihydrogen phosphate" + "CBC with Diff" "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum" "HSP-TCC" "SPG11 hereditary spastic paraplegia" @@ -111701,7 +111707,6 @@ "hereditary spastic paraplegia type 11" "autosomal recessive spastic paraplegia complicated with thin corpus callosum" "autosomal recessive spastic paraplegia type 11" - "CBC with Diff" "blood serum MIT domain-containing protein 1 amount" "eastern oyster" "Crassotrea virginica" @@ -111781,8 +111786,8 @@ "malignant neoplasm of the floor of the mouth" "malignant floor of the mouth tumour" "malignant tumor of the floor of the mouth" - "cancer of mouth floor" "mouth floor cancer" + "cancer of mouth floor" "malignant floor of the mouth neoplasm" "malignant floor of mouth neoplasm" "malignant tumour of the floor of the mouth" @@ -111996,9 +112001,9 @@ "AV node" "Aschoff-Tawara node" "cholesterol metabolism" + "musculoskeletal system benign neoplasm" "AGS9" "Aicardi-Goutieres syndrome 9" - "musculoskeletal system benign neoplasm" "EJM6" "Kuskokwim disease" "blood serum NF-kappa-B inhibitor beta amount" @@ -112207,8 +112212,8 @@ "developmental and epileptic encephalopathy 46" "epileptic encephalopathy, early infantile, type 46" "blood T-box brain protein 1 amount" - "Xq25 duplication syndrome" "HCHWA, Piedmont type" + "Xq25 duplication syndrome" "blood serum beta-arrestin-1 amount" "level of PI(18:0_20:4) in blood serum" "blood serum PI(18:0_20:4) amount" @@ -112410,9 +112415,9 @@ "metastatic malignant neoplasm to the colon" "oropharynx anthrax infection" "blood serum killer cell immunoglobulin-like receptor 3DL1 amount" - "expansion sequencing" "rhizodermis" "epiblem" + "expansion sequencing" "central nervous system benign neoplasm" "DEE61" "epileptic encephalopathy, early infantile, 61" @@ -112494,9 +112499,9 @@ "mood and anxiety disorder" "chronic stress" "anxiety disorder" + "blood kinesin-like protein KIF16B amount" "Ichthyosis follicularis - atrichia - photophobia" "IFAP syndrome" - "blood kinesin-like protein KIF16B amount" "HCC-95" "Cowden syndrome type 1" "Cowden syndrome 1" @@ -112719,9 +112724,9 @@ "vitamin D dependent rickets 2" "vitamin D-resistant rickets type II" "Staphylococcus mutans" + "neuralgia" "thyroid gland oncocytic adenoma" "benign oncocytoma of the thyroid" - "neuralgia" "global developmental delay, lung cysts, overgrowth, and wilms tumor" "glow syndrome" "GLOW syndrome, somatic mosaic" @@ -112881,12 +112886,12 @@ "pelvic region of trunk varicose disease" "varicose disease of pelvic region of trunk" "blood serum EH domain-containing protein 1 amount" + "renal cell carcinoma, Xp11-associated" + "renal cell carcinoma, papillary, 1" "cherubism" "CRBM" "familial multilocular cystic disease of the jaws" "familial fibrous dysplasia of the jaws" - "renal cell carcinoma, Xp11-associated" - "renal cell carcinoma, papillary, 1" "blood serum BTB/POZ domain-containing protein KCTD17 amount" "EDS VIIA" "ocean metagenome" @@ -112913,9 +112918,9 @@ "dourine" "Covering disease" "Dourine" + "blood citron Rho-interacting kinase amount" "Bacteria skin disease caused by infection" "Bacteria caused skin disease caused by infection" - "blood citron Rho-interacting kinase amount" "anterior kidney" "kidney marrow" "Frankia alni strain ACN14a" @@ -113002,9 +113007,9 @@ "blood serum glutamate receptor ionotropic, delta-2 amount" "Stoll-GC)raudel-Chauvin syndrome" "Gastrula:75%-epiboly" - "blood TSC22 domain family protein 3 amount" "vascular tree organ region" "region of vascular tree organ" + "blood TSC22 domain family protein 3 amount" "plasma fibronectin deficiency" "blood serum uridine-cytidine kinase 2 amount" "striatal degeneration, autosomal dominant caused by mutation in PDE8B" @@ -113522,14 +113527,14 @@ "Venous tree organ part" "Venous subtree" "venous vessel" + "T+B+ SCID" + "T-cell positive B-cell positive SCID" "tympanic membrane disorder" "disease of tympanic membrane" "disease or disorder of tympanic membrane" "disorder of tympanic membrane" "tympanic membrane disease or disorder" "tympanic membrane disease" - "T+B+ SCID" - "T-cell positive B-cell positive SCID" "Loboa loboi" "Stickler syndrome type 1" "Neisseria gonorrhoeae caused iridocyclitis (disease)" @@ -114023,6 +114028,7 @@ "blood serum NudC domain-containing protein 2 amount" "blood serum small ribosomal subunit protein eS19 amount" "Abnormality of serine family amino acid metabolism" + "neoplasm of endocardium" "endocardium tumor" "tumor of endocardium" "endocardial neoplasm" @@ -114035,7 +114041,6 @@ "tumour of the endocardium" "tumor of the endocardium" "endocardium neoplasm (disease)" - "neoplasm of endocardium" "neurilemmal cell" "SRTD10" "short-rib thoracic dysplasia 10 with or without polydactyly" @@ -114083,8 +114088,8 @@ "vestibulocochlear nerve disorder" "disorder of vestibulocochlear nerve" "acoustic nerve disorder NOS" - "disease of vestibulocochlear nerve" "acoustic nerve disease" + "disease of vestibulocochlear nerve" "disease or disorder of vestibulocochlear nerve" "vestibulocochlear nerve disease or disorder" "vestibulocochlear nerve disease" @@ -114094,18 +114099,18 @@ "adenoid cystic carcinoma of the major salivary gland" "major salivary gland adenoid cystic cancer" "Kleiner-Holmes syndrome" - "disease or disorder of lower respiratory tract" - "lower respiratory tract disorder" - "disorder of lower respiratory tract" - "lower respiratory tract disease" - "lower respiratory tract disease or disorder" - "disease of lower respiratory tract" "disease due to Reoviridae (disorder)" "disease due to Reovirus (disorder)" "Reoviridae Infections" "disease due to Orthoreovirus" "Reoviridae disease" "Reoviridae infectious disease" + "disease or disorder of lower respiratory tract" + "lower respiratory tract disorder" + "disorder of lower respiratory tract" + "lower respiratory tract disease" + "lower respiratory tract disease or disorder" + "disease of lower respiratory tract" "blood serum SWI/SNF complex subunit SMARCC1 amount" "Blood clot in portal vein" "arylsulfatase B" @@ -114400,8 +114405,8 @@ "ANTERIOR CEREBRAL CIRC INFARCT" "Brain Infarctions" "VENOUS INFARCT BRAIN" - "Infarction, Brain, Anterior Circulation" "INFARCT LACUNAR" + "Infarction, Brain, Anterior Circulation" "Infarctions, Venous Brain" "Infarctions, Brain Venous" "Posterior Circulation Brain Infarction" @@ -114564,11 +114569,11 @@ "(2S)-2,3,3-trideuterio-2-(dideuterioamino)-3-(2,3,4-trideuteriophenyl)propanoic acid" "syndromic urogenital tract malformation" "syndrome associated with urogenital tract malformation" - "HCHWA, Italian type" "CFND" "Craniofrontonasal syndrome" "CFNS" "blood serum C-X-C motif chemokine 17 amount" + "HCHWA, Italian type" "PLSIMCE" "Immature Plasma Cells" "sooty mangabey" @@ -114579,8 +114584,8 @@ "Felty's syndrome" "rheumatoid arthritis with splenoadenomegaly and leukopenia" "Rheumatoid arthritis with splenoadenomegaly and leukopenia" - "KTZSL" "blood spermine synthase amount" + "KTZSL" "Richner-Hanhart syndrome" "tyrosinemia due to TAT deficiency" "tyrosinemia due to tyrosine aminotransferase deficiency" @@ -114750,10 +114755,10 @@ "Recurrent thrombosis" "response to CPT" "Trisomy Xp11.22-p11.23" - "hepatic peliosis" - "peliosis hepatis" "blood serum transmembrane protein 119 amount" "blood serum Kunitz-type protease inhibitor 3 amount" + "hepatic peliosis" + "peliosis hepatis" "muscular dilation of the oesophagus" "Pumporgan" "pharyngeal valve" @@ -114962,11 +114967,11 @@ "malignant tumor of the thorax" "malignant neoplasm of the thorax" "cancer of thoracic segment of trunk" + "Pelger-Huet anomaly with mild skeletal anomalies" "absent eyebrows and eyelashes-intellectual disability syndrome" "pseudoprogeria syndrome" "eyebrows and eyelashes absence-intellectual disability syndrome" "Hal-Berg-Rudolph syndrome" - "Pelger-Huet anomaly with mild skeletal anomalies" "GM08398 cell" "spermatogenic failure 23" "lissencephaly type 2" @@ -115340,6 +115345,9 @@ "malignant neoplasm of the nervous system" "malignant neoplasm of nervous system" "anatomical entity sphingomyelin amount" + "scleroderma/polimyositis overlap" + "scleromyositis" + "polymyositis in scleroderma" "NPHP3" "nephronophthisis 3" "NPHP3 nephronophthisis (disease)" @@ -115349,17 +115357,14 @@ "Stratton-Parker syndrome" "Neutrophilic Myelocytes" "NEUTMY" + "Rickettsia prowazekii strain Rp22" + "Rickettsia prowazekii str. Rp22" "Flat end part of bone" "Flat epiphyses" "opioid dependence, susceptibility to, 1" "opioid dependence, susceptibility to, type 1" "SQORD" "sulfide:quinone oxidoreductase deficiency" - "Rickettsia prowazekii strain Rp22" - "Rickettsia prowazekii str. Rp22" - "scleroderma/polimyositis overlap" - "scleromyositis" - "polymyositis in scleroderma" "ureter leiomyoma" "leiomyoma of the ureter" "ureteral leiomyoma" @@ -115409,11 +115414,11 @@ "Tuberculosis, Renal" "Tuberculosis of kidney" "tuberculosis of kidney" - "fibroblastic disease" "Tyrosine hydroxylase-deficient dopa-responsive dystonia" "Tyrosine hydroxylase deficiency" "DYT5b" "Autosomal recessive Segawa syndrome" + "fibroblastic disease" "memory B-cell" "memory B lymphocyte" "memory B-lymphocyte" @@ -115578,13 +115583,13 @@ "endocardium disease or disorder" "blood serum meteorin-like protein amount" "EN-RAGE" + "Ovalocytes" + "OVALCY" "spleen prolymphocytic leukemia" "prolymphocytic leukemia of spleen" "spleen prolymphocytic leukaemia" "prolymphocytic leukaemia of spleen" "splenic manifestation of prolymphocytic leukemia" - "Ovalocytes" - "OVALCY" "Stevens-Johnson syndrome" "Dermatostomatitis, Stevens Johnson type" "Stevens Johnson syndrome" @@ -116053,8 +116058,8 @@ "blood aryl hydrocarbon receptor nuclear translocator amount" "IUGR" "foetal small for gestational Age" - "foetal Growth retardation" "foetus small for gestational Age" + "foetal Growth retardation" "foetal growth retardation" "Fetal growth retardation (disorder)" "Microsomia" @@ -116231,11 +116236,11 @@ "8-[(E)-2-(3-chlorophenyl)ethenyl]-1,3,7-trimethyl-3,7-dihydro-1H-purine-2,6-dione" "human mesenchymal stem cell from adipose tissue" "hMSC-AT" - "blood serum peripheral plasma membrane protein CASK amount" "Pelizaeus-Merzbacher brain sclerosis" "PMD" "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type" "Diffuse familial brain sclerosis" + "blood serum peripheral plasma membrane protein CASK amount" "AML, Monosomy 7" "Meckel syndrome, type 3" "Meckel syndrome caused by mutation in TMEM67" @@ -116333,7 +116338,6 @@ "spermatogenic failure 24" "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" "blood paxillin amount" - "blood Gly-Tyr amount" "persistent truncus arteriosus" "common truncus arteriosus" "TAC" @@ -116342,6 +116346,7 @@ "truncus arteriosus" "common arterial trunk" "Truncus Arteriosus" + "blood Gly-Tyr amount" "Populus tremula x P. tremuloides" "Populus tremula x Poplulua tremuloides" "Populus tremula x Poplulus tremuloides" @@ -116648,8 +116653,8 @@ "vermiform appendix neuroendocrine neoplasm" "vermiform appendix neuroendocrine tumor, well differentiated, low or intermediate grade" "vermiform appendix neuroendocrine tumor" - "appendix neuroendocrine neoplasm" "vermiform appendix neuroendocrine tumour" + "appendix neuroendocrine neoplasm" "neuroendocrine neoplasm of vermiform appendix" "vermiform appendix NET" "chitotriosidase deficiency" @@ -117439,6 +117444,11 @@ "innate immunity" "nonspecific immune response" "response to cytarabine trait" + "pharyngeal throat squamous cell cancer" + "pharynx squamous cell carcinoma" + "pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma" + "pharyngeal squamous cell carcinoma" + "pharyngeal squam. cell carcinoma" "Rubinstein-Taybi Syndrome" "Rubinstein syndrome" "proximal chromosome 16p13.3 deletion syndrome" @@ -117451,11 +117461,6 @@ "Intersex genitalia" "Ambiguous external genitalia" "Ambiguous external genitalia at birth" - "pharyngeal throat squamous cell cancer" - "pharynx squamous cell carcinoma" - "pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma" - "pharyngeal squamous cell carcinoma" - "pharyngeal squam. cell carcinoma" "blood serum endophilin-B1 amount" "blood cell surface hyaluronidase CEMIP2 amount" "insulin secretion rate measurement" @@ -117508,6 +117513,7 @@ "autosomal dominant distal hereditary motor neuropathy" "autosomal dominant dHMN" "spermatogenic failure 25" + "Synspondylism" "pulmonary blastoma" "Pneumoblastoma" "blastoma of lung" @@ -117516,7 +117522,6 @@ "2-hydroxy-3-methylbutanoate" "2-Hydroxy-3-methylbutyrate" "blood serum interleukin-1 alpha amount" - "Synspondylism" "blood Ras-related protein Rab-10 amount" "blood Thr-Phe amount" "AML, Monosomy 5" @@ -117544,10 +117549,10 @@ "rectal epithelial neoplasm" "Salmonella newport" "Salmonella serotype Newport" - "Nimesulide" - "N-(4-nitro-2-phenoxyphenyl)methanesulfonamide" "Baird syndrome" "absence of dermatoglyphics-congenital milia syndrome" + "Nimesulide" + "N-(4-nitro-2-phenoxyphenyl)methanesulfonamide" "blood serum bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 amount" "AF" "A-fib" @@ -117732,8 +117737,8 @@ "down-regulation of mitosis" "downregulation of mitosis" "blood serum synaptosomal-associated protein 29 amount" - "Constitutional hemolytic anemia due to acanthocytic disorder" "concentration" + "Constitutional hemolytic anemia due to acanthocytic disorder" "blood serum nucleotide triphosphate diphosphatase amount" "blood serum Golgi phosphoprotein 3 amount" "O'Donnell-Pappas syndrome" @@ -117990,11 +117995,11 @@ "keratoderma" "keratosis" "blood serum methyltransferase-like protein 11A amount" + "CASP8" "blood serum protein S100-A8 amount" "Precursor Plasma Cells" "Plasmablast" "PLSPCE" - "CASP8" "non-infectious iridocyclitis" "Bacteroides gingivalis" "ABOLM" @@ -118532,7 +118537,6 @@ "glycine metabolic process disease" "disorder of glycine metabolic process" "Leg paralysis" - "l" "Glycogenosis type IXb" "Glycogenosis due to liver and muscle phosphorylase kinase deficiency" "Glycogen storage disease type IXb" @@ -118541,6 +118545,7 @@ "Glycogenosis type 9B" "GSD type IXb" "GSD due to liver and muscle phosphorylase kinase deficiency" + "l" "mature eosinophil leukocyte" "mature eosinocyte" "mature eosinophil leucocyte" @@ -118815,10 +118820,6 @@ "perinephritis" "perirenal fat inflammation" "urea measurement" - "multidrug-resistant tuberculosis" - "multidrug-resistant TB" - "Tuberculosis, Multidrug-Resistant" - "MDR-TB" "blood TGF-beta 1 amount" "dorsal root ganglia" "DRG" @@ -118826,6 +118827,10 @@ "spinal ganglion" "rare coagulopathy due to a constitutional coagulation factors defect" "rare bleeding disorder due to a constitutional coagulation factors defect" + "multidrug-resistant tuberculosis" + "multidrug-resistant TB" + "Tuberculosis, Multidrug-Resistant" + "MDR-TB" "Norman disease" "PCH1" "MRT32" @@ -119130,11 +119135,11 @@ "Scarring or clouding of the cornea of the eye" "Corneal opacities" "hereditary pyropoikilocytosis" + "gonadal dysgenesis syndrome" "X-Linked Combined Immunodeficiency Disease" "x-linked severe combined immunodeficiency" "combined immunodeficiency, X-linked" "combined immunodeficiency, X-linked, moderate, X-linked recessive" - "gonadal dysgenesis syndrome" "phosphatidylcholine 42:2" "blood serum Golgi phosphoprotein 3-like amount" "Polidocanol" @@ -119419,14 +119424,14 @@ "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B" "TUBB2B complex cortical dysplasia with other brain malformations" "CDCBM7" - "Avitaminosis" - "Vitamin deficiency (disorder)" - "Hypovitaminosis" - "Vitamin Deficiency Disorder" "Mosaic trisomy type 10" "trisomy 10 mosaicism" "Mosaic trisomy chromosome 10" "mosaic trisomy 10" + "Avitaminosis" + "Vitamin deficiency (disorder)" + "Hypovitaminosis" + "Vitamin Deficiency Disorder" "synovial sarcoma with spindle cell components" "synovial sarcoma, monophasic fibrous" "COPII coated vesicle membrane" @@ -119479,8 +119484,8 @@ "Bowed long bones" "blepharophimosis types 1 and 2 due to a point mutation" "vaginal enterocele" - "blood serum endothelial lipase amount" "goiter, multinodular" + "blood serum endothelial lipase amount" "blood serum EP300-interacting inhibitor of differentiation 3 amount" "laryngo-tracheo-esophageal diastema" "laryngo-tracheo-esophageal cleft" @@ -119640,11 +119645,11 @@ "Hyperpituitarism" "blood serum N-myc-interactor amount" "epilepsy due to FCD" + "NK.49Cl-94-.Sp" + "CD94- Ly49I-negative NK cell" "ischaemia reperfusion injury" "ischemia reperfusion injury" "myocardial reperfusion injury" - "NK.49Cl-94-.Sp" - "CD94- Ly49I-negative NK cell" "stria vascularis of cochlea" "stria vascularis" "vascular stripe of cochlear duct" @@ -119883,8 +119888,8 @@ "limb-girdle muscular dystrophy due to FKRP deficiency" "LGMD-FKRP related" "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP" - "blood serum protein FAM221A amount" "blood ribonuclease H2 subunit A amount" + "blood serum protein FAM221A amount" "GM17797 cell" "software_variation_design" "Eastern white pine" @@ -120008,12 +120013,12 @@ "Distal deletion 10q" "proteasome-associated autoinflammatory syndrome 3 and digenic forms" "proteasome-associated autoinflammatory syndrome 3" - "blood serum 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial amount" - "Medial Collateral Ligament of the Knee" "hamartoma of stomach" "stomach hamartoma (disease)" "hamartoma of the stomach" "gastric hamartomatous polyp" + "blood serum 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial amount" + "Medial Collateral Ligament of the Knee" "JIA" "Juvenile rheumatoid arthritis (disorder)" "Juvenile idiopathic arthritis" @@ -120171,12 +120176,12 @@ "blood serum B melanoma antigen 3 amount" "blood serum tribbles homolog 2 amount" "Thoracic part of aorta" - "Blepharophimosis-intellectual disability syndrome type V" - "BMRS, Verloes type" - "BMRS type V" "taurocyamine phosphate, N(omega)-phosphotaurocyamine" "Avulavirus infectious disease" "Avulavirus Infections" + "Blepharophimosis-intellectual disability syndrome type V" + "BMRS, Verloes type" + "BMRS type V" "ES" "epithelioid cell sarcoma" "epithelioid sarcoma" @@ -120509,10 +120514,10 @@ "synovial sarcoma of the mediastinum" "mediastinal synovial sarcoma" "synovial sarcoma of mediastinum" + "total expressed protein" "hair-nail ectodermal dysplasia" "HNED" "PHNED" - "total expressed protein" "Hyaluronan-binding protein 2 measurement" "FSAP measurement" "Hepatocyte growth factor activator-like protein measurement" @@ -120526,12 +120531,12 @@ "glucocorticoid therapy, response to" "Delta granule disease" "secondary hypertension" - "disorder of aortic valve" "aortic valve disease or disorder" "aortic valve disorder" "disease of aortic valve" "aortic valve disease" "disease or disorder of aortic valve" + "disorder of aortic valve" "Lowry syndrome" "Kimura's disorder" "Kimura disease" @@ -120716,12 +120721,12 @@ "Fanconi Anemia, complementation group type N" "pancreatic ductal carcinoma" "PDAC" - "Bifid hallux, bilateral" - "Bifid halluces, bilateral" - "Bifid great toes, bilateral" "Streptococcus mutans str. UA159" "cyanosis, transient neonatal" "premalignant hematologic condition" + "Bifid hallux, bilateral" + "Bifid halluces, bilateral" + "Bifid great toes, bilateral" "adult NCL" "adult neuronal ceroid lipofuscinosis" "Kufs disease" @@ -120768,10 +120773,10 @@ "Sommer-Young-Wee-Frye syndrome" "craniofacial-deafness-hand syndrome" "CDHS" - "PERYTHM" - "primary erythromelalgia" "Monosomy 20p12.3" "Del(20)(p12.3)" + "PERYTHM" + "primary erythromelalgia" "blood serum sideroflexin-5 amount" "Chin with horizontal crease" "Chin with horizontal furrow" @@ -121073,13 +121078,13 @@ "Arcus Senilis" "arcus of cornea" "Arcus of cornea (disorder)" - "sarcoma of dendritic cell" - "dendritic cell sarcoma" "adenocarcinoma of the cecum" "adenocarcinoma of cecum" "cecum adenocarcinoma" - "cecal adenocarcinoma" "caecum adenocarcinoma" + "cecal adenocarcinoma" + "sarcoma of dendritic cell" + "dendritic cell sarcoma" "masked julie" "blood serum protein notum amount" "[Clostridium] difficile" @@ -122050,8 +122055,8 @@ "all-trans-retinoic acid" "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" "blood serum sperm surface protein Sp17 amount" - "CMT2I" "blood serum serrate RNA effector molecule amount" + "CMT2I" "mental process disease" "Behavior Disorder" "Brief Reactive Psychosis" @@ -122192,14 +122197,14 @@ "autosomal recessive cutis laxa type 1C" "ARCL1C" "Urban-Rifkin-Davis syndrome" + "arterial occlusion" + "arterial obstruction" + "blood Rho guanine nucleotide exchange factor 12 amount" "Lips, Cleft" "Cleft Lips" "Harelips" "Harelip" "Lip, Cleft" - "arterial occlusion" - "arterial obstruction" - "blood Rho guanine nucleotide exchange factor 12 amount" "blood serum Polycomb complex protein BMI-1 amount" "RP94" "NFU1 deficiency" @@ -122385,8 +122390,6 @@ "Generalised convulsion" "Generalized convulsion" "Generalised tonic-clonic seizure (without specification of onset)" - "Radial longitudinal deficiency" - "Dysplastic radii" "Weston-Hurst syndrome" "acute hemorrhagic leukoencephalitis" "acute haemorrhagic leucoencephalitis of Weston Hurst" @@ -122394,6 +122397,8 @@ "Leukoencephalitis, Acute Hemorrhagic" "acute necrotizing hemorrhagic leukoencephalitis" "AHL" + "Radial longitudinal deficiency" + "Dysplastic radii" "2-hydroxybutane-1,2,3-tricarboxylate" "Classic Infantile CLN1 Disease" "INCL" @@ -122544,6 +122549,7 @@ "cecum cancer" "Tall stature - scoliosis - macrodactyly of the halluces" "bone filaminopathy" + "IVIG" "congenital disorder of deglycosylation 1" "NGLY1-deficiency" "NGLY1 deficiency" @@ -122554,7 +122560,6 @@ "NGLY1 Deficiency" "lateral wall spinal cord" "blood serum hydroxymethylglutaryl-CoA synthase, cytoplasmic amount" - "IVIG" "blood peptidyl-prolyl cis-trans isomerase FKBP5 amount" "Carnitine palmitoyl transferase deficiency type 2, lethal systemic form" "CPT II deficiency, lethal neonatal" @@ -122986,6 +122991,7 @@ "systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease" "systemic mastocytosis with an associated hematological neoplasm" "systemic mastocytosis with an associated haematological neoplasm (SM-AHN)" + "response to gabapentin trait" "mitochondrial respiratory chain complex V" "(1S)-1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile" "blood serum zinc finger and BTB domain-containing protein 16 amount" @@ -123531,8 +123537,8 @@ "malignant hyperthermia susceptibility 1" "L-cysteine" "L-Cysteine" - "Impaired use of nonverbal behaviours" "Impaired use of nonverbal behaviours" + "Impaired use of nonverbal behaviours" "Abnormal nonverbal communicative behavior" "Impaired use of nonverbal behaviors" "Renal hypomagnesemia type 2" @@ -123545,10 +123551,10 @@ "helper T-cell" "helper T lymphocyte" "blood serum proteasome subunit beta type-2 amount" + "Sex reversion - kidneys, adrenal and lung dysgenesis" "germinoma of brain" "germinoma of the brain" "brain germinoma (disease)" - "Sex reversion - kidneys, adrenal and lung dysgenesis" "malignant bone marrow tumour" "bone marrow cancer" "malignant neoplasm of bone marrow" @@ -123944,7 +123950,6 @@ "granular cell leiomyosarcoma" "HCC-1187" "(4-hydroxybenzamido)acetate" - "Sacral kidney" "generalised epilepsy caused by mutation in CASR" "CASR generalised epilepsy" "CASR generalized epilepsy" @@ -123952,6 +123957,7 @@ "epilepsy idiopathic generalized, susceptibility to, 8" "generalized epilepsy caused by mutation in CASR" "epilepsy, idiopathic generalized, susceptibility to, type 8" + "Sacral kidney" "mcleod syndrome with or without chronic granulomatous disease" "McLeod syndrome" "MLS" @@ -124107,6 +124113,8 @@ "Early infantile epileptic encephalopathy with suppression-bursts" "Ohtahara syndrome" "blood serum oxidized purine nucleoside triphosphate hydrolase amount" + "Prieto-Badia-Mulas syndrome" + "Transitional PMD" "neoplasm of trochlear nerve" "neoplasm of the trochlear nerve" "fourth cranial nerve neoplasm" @@ -124134,8 +124142,6 @@ "tumour of trochlear nerve" "fourth cranial nerve tumours" "trochlear nerve neoplasms" - "Prieto-Badia-Mulas syndrome" - "Transitional PMD" "renal tubule disease" "renal tubular disorder" "disorder of renal tubule" @@ -124239,9 +124245,9 @@ "Rotenone" "MALToma of stomach" "MALToma of the stomach" - "stomach MALT lymphoma" "MALT lymphoma of stomach" "primary gastric B-cell MALT lymphoma" + "stomach MALT lymphoma" "gastric MALToma" "gastric MALT lymphoma" "primary gastric MALT lymphoma" @@ -124264,6 +124270,8 @@ "GSD due to muscle and heart glycogen synthase deficiency" "glycogenosis type 0b" "heart glycogen storage disease due to glycogen synthase deficiency" + "age isolated dystonia symptoms begin" + "age at onset of isolated dystonia" "blood serum transcriptional regulator Kaiso amount" "Skeletal dysplasia with wormian bone - multiple fractures - dentin abnormality" "Congenital chronic diarrhea with exudative enteropathy" @@ -124389,12 +124397,12 @@ "renal cyst" "cystic renal disease" "TM" - "2-oxopentanedioate" "SEGA" "subependymal giant cell astrocytic neoplasm" "subependymal giant cell astrocytic tumor" "subependymal giant cell astrocytoma (morphologic abnormality)" "subependymal giant cell astrocytic tumour" + "2-oxopentanedioate" "high content screening" "HCS" "eccrine skin tumour" @@ -124612,10 +124620,10 @@ "gene deletion screening" "gene deletion screen" "blood serum lymphocyte antigen 75 isoform 4 and LY75-CD302 fusion isoforms V34-2/V33-2 (human) amount" - "Increased tyrosine in blood" - "Tyrosinemia" "Pena-Shokeir syndrome type 2" "Cerebrooculofacioskeletal syndrome" + "Increased tyrosine in blood" + "Tyrosinemia" "blood serum apolipoprotein C-III amount" "blood serum chromosome transmission fidelity protein 8 homolog amount" "Vitreoretinopathy, Proliferative" @@ -124643,7 +124651,6 @@ "blood BMP and activin membrane-bound inhibitor amount" "Ischaemic stroke" "Cleavage:8-cell" - "malignant sublingual gland tumour" "malignant tumour of the sublingual gland" "malignant neoplasm of the sublingual gland" "malignant sublingual gland tumor" @@ -124654,6 +124661,7 @@ "malignant neoplasm of sublingual gland" "sublingual gland cancer" "malignant sublingual gland neoplasm" + "malignant sublingual gland tumour" "blood serum death-associated protein kinase 3 amount" "Breg" "regulatory B lymphocyte" @@ -125131,11 +125139,6 @@ "blood serum DnaJ homolog subfamily A member 2 amount" "blood serum peptidase inhibitor 15 amount" "blood serum 26S proteasome non-ATPase regulatory subunit 5 amount" - "rhabdomyosarcoma of the anus" - "rhabdomyosarcoma of anus" - "rhabdomyosarcoma (disease) of anus" - "anal rhabdomyosarcoma" - "anus rhabdomyosarcoma (disease)" "WEISMANN-NETTER syndrome" "WNS" "Weismann-Netter-Stuhl syndrome" @@ -125143,6 +125146,11 @@ "Weismann Netter Stuhl Syndrome" "Weismann-Netter syndrome" "Weismann Netter syndrome" + "rhabdomyosarcoma of the anus" + "rhabdomyosarcoma of anus" + "rhabdomyosarcoma (disease) of anus" + "anal rhabdomyosarcoma" + "anus rhabdomyosarcoma (disease)" "Boyes Arabidopsis Growth Stage 1.03" "BBCH growth stage 13" "synpolydactyly" @@ -125253,13 +125261,13 @@ "SCCA measurement" "THMA1" "short stature-delayed bone age due to thyroid hormone metabolism deficiency" + "N-(2,3-dihydro-1,4-benzodioxin-2-ylmethyl)-2-(2,6-dimethoxyphenoxy)ethanamine" "MDDGB6" "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6" "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6" "congenital muscular dystrophy type 1D" "MDC1D" "congenital muscular dystrophy large-related" - "N-(2,3-dihydro-1,4-benzodioxin-2-ylmethyl)-2-(2,6-dimethoxyphenoxy)ethanamine" "thoracic aortic fatty streaks" "thoracic aorta fatty streaks" "hyperinsulinemic hypoglycemia due to HNF4A deficiency" @@ -125742,6 +125750,7 @@ "spinal extradural abscess" "extradural intraspinal abscess" "spinal epidural abscess" + "blood apolipoprotein(a) amount" "hyper-IgM syndrome type 2" "hyper-IgM syndrome caused by mutation in AICDA" "HIGM2" @@ -125907,8 +125916,8 @@ "DCMD" "Familial macular edema" "Autosomal dominant cystoid macular edema" - "nabothian cyst" "wash_station" + "nabothian cyst" "N-acetylaspartate deficiency" "Monosomy 11qter" "Jacobsen Distal 11q Deletion Syndrome" @@ -126139,9 +126148,9 @@ "thoracomelic dysplasia" "Rivera-Perez-Salas syndrome" "blood serum beta-2-glycoprotein 1 amount" - "sulfoacetic acid" "Schindler disease type 3" "NAGA deficiency type 3" + "sulfoacetic acid" "cholangitis" "response to diclofenac trait" "estrogen-receptor negative breast cancer" @@ -126475,10 +126484,10 @@ "blue peafowl" "Indian peafowl" "blood serum ubiquitin carboxyl-terminal hydrolase 8 amount" + "GM17793 cell" "Sandrow syndrome" "mirror hands and feets-nasal defects syndrome" "laurin-Sandrow syndrome" - "GM17793 cell" "(2S)-2-acetamidobutanedioic acid" "ZikV infection" "Zika virus disease or disorder" @@ -126621,8 +126630,8 @@ "gall bladder tumour" "gallbladder tumour" "gallbladder tumor" - "gall bladder neoplasm (disease)" "tumour of gall bladder" + "gall bladder neoplasm (disease)" "neoplasm of the gallbladder" "neoplasm of gallbladder" "appendix adenoma" @@ -127638,6 +127647,15 @@ "malignant epithelioid hemangioendothelioma" "migratory locust" "blood serum ectonucleoside triphosphate diphosphohydrolase 6 amount" + "biliary hamartoma" + "hepatic mesenchymal hamartoma" + "mesenchymal hamartoma of liver" + "liver mesenchymal hamartoma" + "VMC" + "mesenchymal hamartoma of the liver" + "MHL" + "Von Meyenburg complexes disease" + "liver MH" "Camptothecin" "(4S)-4-ethyl-4-hydroxy-1H-pyrano[3',4':6,7]indolizino[1,2-b]quinoline-3,14(4H,12H)-dione" "mesenchymal cell tumor" @@ -127648,15 +127666,6 @@ "mesenchymal cell tumour" "mesenchymal tumour" "mesenchymal cell neoplasm" - "biliary hamartoma" - "hepatic mesenchymal hamartoma" - "mesenchymal hamartoma of liver" - "liver mesenchymal hamartoma" - "VMC" - "mesenchymal hamartoma of the liver" - "MHL" - "Von Meyenburg complexes disease" - "liver MH" "g/L" "connatal PMD" "Pelizaeus-Merzbacher disease type II" @@ -127715,8 +127724,8 @@ "tumor of the hypothalamus" "hypothalamus tumor" "hypothalamic tumour" - "Cerebellar cysts" "blood STAM-binding protein amount" + "Cerebellar cysts" "TRPS 3" "Trichorhinophalangeal Syndrome Type III" "trichorhinophalangeal syndrome, type III" @@ -127935,10 +127944,10 @@ "TRAPS syndrome" "HCC-1954" "blood serum coiled-coil domain-containing protein 69 amount" - "Novak syndrome" "ISS" "Transverse earlobe creases" "Earlobe crease" + "Novak syndrome" "Streptococcus sanguis" "knee region" "blood serum homeobox protein OTX1 amount" @@ -128044,13 +128053,13 @@ "heart leiomyosarcoma" "Leukotriene C4 synthase deficiency" "LTC4 synthase deficiency" - "ALS26" "Morvan's fibrillary chorea" "MFC" "Morvan's syndrome" "Morvan syndrome" "MoS" "limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome" + "ALS26" "combined immunodeficiency due to LRBA deficiency" "CID due to LRBA deficiency" "skin diseases, fungal" @@ -128586,6 +128595,7 @@ "Type 1 truncus arteriosus" "adult antisocial behaviour measurement" "Mardini-Nyhan syndrome" + "blood serum ceruloplasmin amount" "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type" "leukodystrophy, sudanophilic" "Pelizeaus-Merzbacher spectrum disorder" @@ -128598,7 +128608,6 @@ "diffuse familial brain sclerosis" "sudanophilic leukodystrophy, Paelizeus-Merzbacher type" "Pelizaeus-Merzbacher brain sclerosis" - "blood serum ceruloplasmin amount" "subclavian steal steno-occlusive disease" "subclavian artery stenosis" "Subclavian artery stenosis (disorder)" @@ -128880,8 +128889,6 @@ "blood calmegin amount" "Curatolo-Cilio-Pessagno syndrome" "visceral myopathy-familial external ophthalmoplegia syndrome" - "hepatitis B virus-related hepatocellular carcinoma" - "hepatitis B virus related hepatocellular carcinoma" "Peritonsillar Abscess" "Peritonsillar abscess" "peritonsillar abscess" @@ -128892,6 +128899,8 @@ "telencephalon septum" "septum (NN)" "septal area" + "hepatitis B virus-related hepatocellular carcinoma" + "hepatitis B virus related hepatocellular carcinoma" "Schinzel Giedion Syndrome" "Schinzel-Giedion syndrome" "SGS" @@ -129745,9 +129754,9 @@ "suppurative apical periodontitis" "periapical abscess" "periapical dental abscess" + "apical abscess" "Dentoalveolar abscess" "Apical abscess" - "apical abscess" "dentoalveolar abscess" "suppurative periapical periodontitis" "cohort assignment" @@ -130021,9 +130030,9 @@ "floor of the mouth tumour" "mouth floor neoplasm (disease)" "tumour of mouth floor" - "tumour of the floor of the mouth" "tumor of the floor of the mouth" "floor of mouth neoplasm" + "tumour of the floor of the mouth" "floor of mouth tumour" "floor of mouth tumor" "acute conjunctivitis (disease)" @@ -130481,8 +130490,8 @@ "Leber congenital amaurosis 16" "LCA16" "leishmaniasis" - "Space Motion Sickness" "Eurotium chevalieri" + "Space Motion Sickness" "Monocytoid Cells/Leukocytes" "MOCYCELE" "blood serum kynurenine--oxoglutarate transaminase 3 amount" @@ -130524,8 +130533,8 @@ "Synechococcus sp. (strain PCC 7942)" "Synechococcus sp. (PCC 7942)" "Anacystis nidulans" - "blood serum band 4.1-like protein 1 amount" "(2R)-3-{[(2-aminoethoxy)(hydroxy)phosphoryl]oxy}-2-hydroxypropyl octadecanoate" + "blood serum band 4.1-like protein 1 amount" "blood serum neogenin amount" "drug induced central sleep apnea" "AZ521" @@ -130984,12 +130993,12 @@ "enol-phenylpyruvate" "2-hydroxy-3-phenylprop-2-enoate" "Spatially-resolved Transcript Amplicon Readout Mapping" + "frontometaphyseal dysplasia" "roseola" "sixth disease" "roseola Infantum" "exanthem subitum" "exanthema subitum" - "frontometaphyseal dysplasia" "in situ oligo probe" "tunica conjunctiva" "wall of conjunctival sac" @@ -131176,8 +131185,8 @@ "BRSS" "Schilbach-Rott syndrome" "vascular network" - "Chudley-Rozdilsky syndrome" "somatic sensory cortex" + "Chudley-Rozdilsky syndrome" "epidermoid cell tumor" "squamous cell neoplasm" "squamous cell tumour (qualifier value)" @@ -131525,7 +131534,6 @@ "Spinocerebellar ataxia type 3 (SCA3)" "Azorean disease" "Der Kaloustian-McIntosh-Silver syndrome" - "H69 cell" "supraglottic part of larynx carcinoma" "carcinoma of supraglottic part of larynx" "carcinoma of the supraglottis" @@ -131536,6 +131544,7 @@ "supraglottic carcinoma" "supraglottic throat cancer" "cancer of supraglottis" + "H69 cell" "Small retruded chin" "Retromicrognathia" "baboons" @@ -132826,6 +132835,7 @@ "Atypical HUS with complement gene abnormality" "aHUS with complement gene abnormality" "Casamassima-Morton-Nance syndrome" + "COXPD51" "monosomy 3qter" "chromosome 3q29 microdeletion syndrome, isolated cases" "3q29 microdeletion syndrome" @@ -132833,7 +132843,6 @@ "Del(3)(q29)" "3qter deletion" "monosomy 3q29" - "COXPD51" "malignant thymoma type B3" "well differentiated thymic carcinoma" "atypical thymoma" @@ -132843,7 +132852,6 @@ "well-differentiated thymic carcinoma" "squamoid thymoma" "epithelial thymoma" - "Zimmer phocomelia" "blood serum neuromedin-S amount" "congenital myasthenic syndrome type 15" "ALG14 congenital myasthenic syndrome" @@ -132852,6 +132860,7 @@ "myasthenic syndrome, congenital, 15, without tubular aggregates" "myasthenic syndrome, congenital, type 15" "congenital myasthenic syndrome 15 without tubular aggregates" + "Zimmer phocomelia" "blood WD repeat-containing protein 46 amount" "Haspeslagh-Fryns-Muelenaere syndrome" "L-histidyl-L-valine" @@ -133246,7 +133255,6 @@ "DIS" "4-[(1S)-1-amino-1-carboxyethyl]benzoic acid" "Beckwith-Wiedemann syndrome due to CDKN1C mutation" - "CDG with cardiac malformation as a major feature" "penile tumour" "tumor of the penis" "neoplasm of penis" @@ -133261,6 +133269,7 @@ "neoplasm of the penis" "penis tumour" "penile neoplasm" + "CDG with cardiac malformation as a major feature" "Biber-Haab-Dimmer dystrophy" "Lcd1" "classic lattice corneal dystrophy" @@ -133286,8 +133295,8 @@ "Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome" "tumour of extrahepatic bile duct" "neoplasm of extrahepatic bile duct" - "extrahepatic bile duct neoplasm" "tumor of the extrahepatic bile duct" + "extrahepatic bile duct neoplasm" "neoplasm of the extrahepatic bile duct" "tumor of extrahepatic bile duct" "tumour of the extrahepatic bile duct" @@ -134628,20 +134637,20 @@ "X-linked Asperger syndrome" "Asperger syndrome" "blood serum zinc finger protein 276 amount" - "Dentatorubropallidoluysian atrophy" - "Naito-Oyanagi disease" - "DRPLA" "Leiomyosarcomas" "leiomyosarcoma - not uterine" "leiomyosarcoma" "leiomyosarcoma (excluding uterine leiomyosarcoma)" "leiomyosarcoma, malignant" + "Dentatorubropallidoluysian atrophy" + "Naito-Oyanagi disease" + "DRPLA" + "Boyes Arabidopsis Growth Stage 9.7" + "Arabidopsis Growth principal growth stage 9" "Togaviridae Infections" "Togaviridae caused disease or disorder" "Togaviridae disease or disorder" "Togaviridae infectious disease" - "Boyes Arabidopsis Growth Stage 9.7" - "Arabidopsis Growth principal growth stage 9" "mitochondrial DNA depletion syndrome 10" "Sengers syndrome" "partial monosomy of the long arm of chromosome 20" @@ -134743,8 +134752,6 @@ "level of PC(16:0_20:4) in blood serum" "blood serum PC(16:0_20:4) amount" "gynaecium" - "neutrophilic progranulocyte" - "neutrophilic premyelocyte" "SD/THE" "Trichohepatoenteric syndrome" "Tricho-hepato-enteric syndrome" @@ -134766,6 +134773,8 @@ "infantile-onset spinocerebellar ataxia-psychomotor delay syndrome" "autosomal recessive cerebellar ataxia-cognitive defect syndrome" "blood serum BTB/POZ domain-containing protein KCTD6 amount" + "neutrophilic progranulocyte" + "neutrophilic premyelocyte" "blood gastrin amount" "ECA5" "epilepsy, childhood absence, susceptibility to, 5" @@ -134806,8 +134815,8 @@ "Klippel-Trenaunay-Weber syndrome" "Klippel-Trénaunay-Weber syndrome" "blood serum smoothelin amount" - "SF-126" "blood serum U5 small nuclear ribonucleoprotein TSSC4 amount" + "SF-126" "vaginal squamous neoplasm" "vaginal squamous tumor" "vagina squamous cell neoplasm" @@ -135300,12 +135309,12 @@ "Interstitial cystitis" "chronic interstitial cystitis (disorder)" "chronic interstitial cystitis NOS (disorder)" - "Abnormality of blood glucose concentration" - "blood serum LIM domain kinase 1 amount" "Oxford Nanopore Technologies GridION Mk1" "ONT GridION Mk1" "GridION Sequencing Device Mk1" "GridION Mk1" + "Abnormality of blood glucose concentration" + "blood serum LIM domain kinase 1 amount" "immunodeficiency with hyper-IgM" "adenocystic carcinoma of breast" "breast adenoid cystic carcinoma" @@ -135505,9 +135514,9 @@ "pleuro-pulmonary blastoma familial tumor susceptibility syndrome" "GM14439 cell" "blood serum biotinidase amount" + "CBA Jackson" "Atlantic salmon" "Salmo salar Linnaeus, 1758" - "CBA Jackson" "DEE44" "EIEE44" "early infantile epileptic encephalopathy caused by mutation in UBA5" @@ -135839,11 +135848,11 @@ "mucoepidermoid carcinoma of the breast" "breast mucoepidermoid carcinoma" "mucoepidermoid breast carcinoma" + "carcinoma of the salivary gland" "saliva-secreting gland carcinoma" "salivary gland carcinoma" "carcinoma of saliva-secreting gland" "carcinoma of salivary gland" - "carcinoma of the salivary gland" "pacemaker" "artificial pacemaker" "blood serum Phosphatidylcholine (16:0_20:5) amount" @@ -136444,8 +136453,6 @@ "Bacillus endorhythmos" "early-onset desmin-related myopathy" "blood serum spartin amount" - "adenomatoid odontogenic neoplasm" - "adenomatoid odontogenic tumor" "angioma of the cerebrum" "hemangioma of cerebral hemispheres" "hemangioma of the cerebral hemispheres" @@ -136460,6 +136467,8 @@ "cerebral hemispheric hemangioma" "cerebral hemangioma" "hemangioma of the cerebrum" + "adenomatoid odontogenic neoplasm" + "adenomatoid odontogenic tumor" "SUIzo Tumor-2" "thymic lymphocyte" "blood serum nectin-2 amount" @@ -136638,11 +136647,11 @@ "camera-type eye hemosiderosis" "siderosis bulbi" "siderosis of eye" + "Progressive myoclonic epilepsy type 2" + "Progressive myoclonus epilepsy type 2" "central sleep apnea syndrome" "partial trisomy of chromosome 7" "partial duplication of chromosome type 7" - "Progressive myoclonic epilepsy type 2" - "Progressive myoclonus epilepsy type 2" "GM17285 cell" "Mycobacterium tuberculosis strain H37Rv" "Mycobacterium tuberculosis str. H37Rv" @@ -136801,12 +136810,12 @@ "GLUT1DS" "GLUT1 deficiency syndrome" "LIFR" + "idiopathic hypertension" + "primary hypertension" "Achondroplasia" "chondrodystrophia" "Achondroplastic physique" "ACH" - "idiopathic hypertension" - "primary hypertension" "Del(2)(p21) without cystinuria" "blood serum V-set and immunoglobulin domain-containing protein 10 amount" "idiopathic cardiomyopathy" @@ -136821,11 +136830,6 @@ "Facial oedema" "Facial swelling" "blood ataxin-2 amount" - "cementation hyperplasia" - "hypercementosis (disorder)" - "Hypercementosis" - "Cementation hyperplasia" - "hypercementosis" "Leyden-Moebius muscular dystrophy" "CAPN3 autosomal recessive limb-girdle muscular dystrophy" "autosomal recessive limb-girdle muscular dystrophy type 2A" @@ -136841,6 +136845,11 @@ "platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency" "PLA2G4A-related platelet dysfunction" "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder" + "cementation hyperplasia" + "hypercementosis (disorder)" + "Hypercementosis" + "Cementation hyperplasia" + "hypercementosis" "cutaneous papilloma" "skin papilloma" "zone of skin papilloma" @@ -136861,14 +136870,14 @@ "benign tumor of the adrenal gland" "benign adrenal gland tumor" "benign tumour of the adrenal gland" + "Hereditary vascular retinopathy - Raynaud phenomenon - migraine" + "HVR" "PAX5 precursor B-cell acute lymphoblastic leukaemia" "precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5" "leukemia, acute lymphoblastic, susceptibility to, 3" "precursor B-cell acute lymphoblastic leukaemia caused by mutation in PAX5" "leukemia, acute lymphoblastic, susceptibility to, type 3" "PAX5 precursor B-cell acute lymphoblastic leukemia" - "Hereditary vascular retinopathy - Raynaud phenomenon - migraine" - "HVR" "granular-lattice corneal dystrophy" "CGD2" "combined granular-lattice corneal dystrophy" @@ -137008,8 +137017,8 @@ "tumour of lacrimal system" "kinetin" "N-(furan-2-ylmethyl)-7H-purin-6-amine" - "GM09579 cell" "'Streptomyces maritimus'" + "GM09579 cell" "diastrophic dysplasia" "blood serum protein O-glucosyltransferase 3 amount" "allergic asthma" @@ -137454,10 +137463,10 @@ "acrocephalosyndactylia" "Skin infection" "Bacterial infection of skin" + "Ataxia - delayed dentition - hypomyelination" "Weil's disease" "trabecular layer" "myocardial trabecular layer" - "Ataxia - delayed dentition - hypomyelination" "blood serum citrate synthase, mitochondrial amount" "Sex-chromosome number anomaly" "RSTS1" @@ -137692,11 +137701,6 @@ "Dilated cardiomyopathy secondary to alcohol (disorder)" "alcohol-induced heart muscle disease" "Alcoholic cardiomyopathy" - "fetal AEDS" - "foetal AEDS" - "FACS" - "fetal antiepileptic drug syndrome" - "foetal antiepileptic drug syndrome" "platelet-type bleeding disorder 2" "thrombasthenia" "glycoprotein IIb/IIIa defect" @@ -137708,6 +137712,11 @@ "platelet glycoprotein IIb-IIIa deficiency" "Glanzmann thrombasthenia 1" "deficiency of platelet fibrinogen receptor" + "fetal AEDS" + "foetal AEDS" + "FACS" + "fetal antiepileptic drug syndrome" + "foetal antiepileptic drug syndrome" "peripheral arterial disease" "peripheral arterial disorder" "PAD" @@ -137829,8 +137838,8 @@ "CDG-IIf" "carbohydrate deficient glycoprotein syndrome type IIf" "CDG syndrome type IIf" - "Escherichia coli K12" "heptadecanoate" + "Escherichia coli K12" "Moyamoya disease caused by mutation in ACTA2" "Moyamoya disease type 5" "Moyamoya disease 5" @@ -137987,12 +137996,12 @@ "benign Thymus tumour" "benign Thymus tumor" "blood serum T-complex protein 1 subunit alpha amount" + "sole" "sole of foot" "plantar part of foot" "regio plantaris" "planta" "plantar region" - "sole" "sodium 3alpha,7alpha,12alpha-trihydroxy-5beta-cholan-24-oate" "sodium cholate" "Abnormality of upper limb bone" @@ -138004,17 +138013,17 @@ "amelogenesis imperfecta, IIa 1K" "AI1K" "amelogenesis imperfecta, hypoplastic IIa 1K" - "heterokonts" - "glycine encephalopathy of infancy" - "infantile non-ketotic hyperglycinemia" - "infantile NKH" - "infantile onset glycine encephalopathy" "microscopic polyarteritis" "Microscopic polyarteritis" "Micropolyangiitis" "MPA" "microscopic polyangiitis" "Hypersensitivity angiitis" + "heterokonts" + "glycine encephalopathy of infancy" + "infantile non-ketotic hyperglycinemia" + "infantile NKH" + "infantile onset glycine encephalopathy" "mild nemaline myopathy" "acquired factor XIII deficiency" "aFXIII" @@ -138375,9 +138384,9 @@ "epidermoid carcinoma of the kidney pelvis" "kidney pelvis epidermoid carcinoma" "epidermoid carcinoma of renal pelvis" - "squamous cell carcinoma of the kidney pelvis" "squamous cell carcinoma of renal pelvis" "renal pelvis squamous cell cancer" + "squamous cell carcinoma of the kidney pelvis" "epidermoid carcinoma of kidney pelvis" "kidney pelvis squamous cell carcinoma" "disorder of endometrium" @@ -138722,6 +138731,7 @@ "Seborrheic eczema" "Seborrhea" "blood serum thiosulfate sulfurtransferase amount" + "epitheliocyte" "Facial dysmorphism" "Unusual facial appearance" "Dysmorphic facial features" @@ -138730,7 +138740,6 @@ "Unusual facies" "Abnormal morphology of the face" "Abnormal facial shape" - "epitheliocyte" "blood serum chondrosarcoma-associated gene 2/3A protein amount" "Lopes-Marques de Faria syndrome" "classic CLAH" @@ -139399,15 +139408,15 @@ "thoracic gland" "grayanotoxane-56101416-pentol 23-epoxy- 614-diacetate (2beta3beta6beta14r)-" "Bifid femur - monodactylous ectrodactyly" - "PLA801-95C" - "PLA-801C" "BRIC1" "Bric type 1" "ATP8B1 benign recurrent intrahepatic cholestasis" "benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1" "cholestasis, benign recurrent intrahepatic, type 1" - "blood serum fumarylacetoacetase amount" + "PLA801-95C" + "PLA-801C" "Monterey pine" + "blood serum fumarylacetoacetase amount" "blood serum E3 ubiquitin-protein ligase RNF149 amount" "blood serum serine protease inhibitor Kazal-type 1 amount" "PHA2A" @@ -139431,8 +139440,8 @@ "presumptive forebrain" "future prosencephalon" "blood serum signal-regulatory protein gamma amount" - "SPG24" "5-{4-[(1-methylcyclohexyl)methoxy]benzyl}-1,3-thiazolidine-2,4-dione" + "SPG24" "High fat diet (finding)" "HF - High fat diet" "GM17154 cell" @@ -139513,6 +139522,10 @@ "population isolate" "founder population" "blood serum tyrosine-protein phosphatase non-receptor type 9 amount" + "Lysozyme amyloidosis" + "Hereditary renal amyloidosis due to lysozyme variant" + "Hereditary amyloid nephropathy due to lysozyme variant" + "Familial amyloid nephropathy due to lysozyme variant" "CADASIL caused by mutation in HTRA1" "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2" "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" @@ -139522,21 +139535,17 @@ "CADASIL2" "vertebrate hypodermis" "hypoderm" - "Lysozyme amyloidosis" - "Hereditary renal amyloidosis due to lysozyme variant" - "Hereditary amyloid nephropathy due to lysozyme variant" - "Familial amyloid nephropathy due to lysozyme variant" "blood serum collagen alpha-1(X) chain amount" "P2Y12 defect" "ADP platelet receptor P2Y12 defect" "platelet-type bleeding disorder 8" "blood proline-serine-threonine phosphatase-interacting protein 1 amount" - "CDGIt" "Fluid retention" "Oedema" "Dropsy" "Hydrops" "Water retention" + "CDGIt" "ML DmD9" "D9" "DmD9" @@ -139592,10 +139601,10 @@ "Neoplasm, Thyroid" "Thyroid Neoplasms" "thyroid gland neoplasm (disease)" - "Boyes Arabidopsis Growth Stage 1.09" - "BBCH growth stage 19" "Uterine Cervical Incompetence" "cervical incompetence" + "Boyes Arabidopsis Growth Stage 1.09" + "BBCH growth stage 19" "blood serum coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial amount" "Minocycline" "(4S,4aS,5aR,12aS)-4,7-bis(dimethylamino)-3,10,12,12a-tetrahydroxy-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide" @@ -140066,11 +140075,11 @@ "Protein C deficiency" "pancreatic triglyceride lipase deficiency" "atypical progeroid syndrome" + "CCL39" "microcephalic osteodysplastic dysplasia" "microcephalic osteodysplastic dysplasia, Saul-Wilson type" "Saul-Wilson syndrome" "SWILS" - "CCL39" "autoimmune diseases of the skin and mucous membrane" "autoimmune bullous skin disease" "subepidermal autoimmune bullous disease" @@ -140291,11 +140300,11 @@ "nicotinamide" "pyridine-3-carboxamide" "hydrogen citrate" + "blood deaminated glutathione amidase amount" "ovotesticular disorders of sex development" "46,XX ovotesticular DSD" "ovotesticular differences of sex development" "ovotesticular DSD" - "blood deaminated glutathione amidase amount" "high grade surface osteosarcoma" "visceral muscle contraction" "musculoskeletal system hypersensitivity reaction type II disease" @@ -140678,12 +140687,12 @@ "blood golgin subfamily A member 7 amount" "peritoneum benign neoplasm" "benign peritoneal neoplasm" - "blood [pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial amount" - "Eiken syndrome" "lung papilloma" "papilloma of the respiratory tract" "papilloma of respiratory tract" "respiratory tract papilloma" + "blood [pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial amount" + "Eiken syndrome" "multiple sclerosis primary progressive" "primary progressive multiple sclerosis" "primary-progressive MS" @@ -141034,22 +141043,22 @@ "Seckel syndrome 7" "microcephalic primordial dwarfism, Dauber type" "NIN Seckel syndrome" - "vascular leiomyoma" - "angioleiomyoma" - "angiomyoma" - "angiomyoma (morphologic abnormality)" "otodental dysplasia" "otodental syndrome" "otodental dysplasia chromosome deletion syndrome" "globodontia" + "vascular leiomyoma" + "angioleiomyoma" + "angiomyoma" + "angiomyoma (morphologic abnormality)" "Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant" "Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant" "Fibrinogen A alpha-chain amyloidosis" "Familial amyloid nephropathy due to fibrinogen A alpha-chain variant" - "blood serum collagen alpha-2(XI) chain amount" "male reproductive system tuberculosis" "Tuberculosis, Male Genital" "male genital tuberculosis" + "blood serum collagen alpha-2(XI) chain amount" "non-communicating hydrocephalus" "fibrofolliculomas with trichodiscomas and acrochordons" "BHD" @@ -141072,12 +141081,12 @@ "bone biosynthesis" "Peroxisome biogenesis disorder complementation group B" "PBD-CG7" + "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" + "type A insulin resistance syndrome" "FCAS" "Familial cold autoinflammatory syndrome" "FCAS1" "FCU" - "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" - "type A insulin resistance syndrome" "PBC" "chronic non-suppurative destructive cholangitis" "cholestatic cirrhosis" @@ -141578,12 +141587,12 @@ "Pierre Robin Sequence" "isolated Pierre-Robin syndrome" "isolated Pierre Robin sequence" + "blood serum Sphingomyelin (d40:2) amount" "end-stage renal disease" "End stage renal failure" "chronic renal failure" "End stage renal disease" "End-stage renal failure" - "blood serum Sphingomyelin (d40:2) amount" "blood serum uncharacterized protein C1orf226 (human) amount" "NYSTAGMUS 4, congenital, autosomal dominant" "NYS4" @@ -141842,7 +141851,6 @@ "1H-1,2,4-triazol-3-amine" "Amitrole" "blood serum membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 amount" - "blood serum RING finger protein 24 amount" "salivary gland acinic cell tumour" "salivary gland acinic cell neoplasm" "acinic cell tumour of salivary gland" @@ -141856,6 +141864,7 @@ "salivary gland acinic cell cancer" "acinic cell carcinoma of salivary gland" "salivary gland acinic cell carcinoma" + "blood serum RING finger protein 24 amount" "blood serum adenylate kinase 4, mitochondrial amount" "MCT" "T mast cells" @@ -142044,6 +142053,7 @@ "Lactobacillus hordniae" "Lactobacillus hordniae" "Lactococcus lactis subsp. hordniae (ex Latorre-Guzman et al. 1977) Schleifer et al. 1986" + "blood serum microtubule-associated serine/threonine-protein kinase 4 amount" "blood serum death-associated protein kinase 1 amount" "Partial-total agenesis of corpus callosum" "Partial corpus callosum agenesis" @@ -142059,7 +142069,6 @@ "mature T-cell and NK-cell lymphoma" "mature T-and NK-cell lymphoma" "mature T-cell and NK-cell non-Hodgkin's lymphoma" - "blood serum microtubule-associated serine/threonine-protein kinase 4 amount" "blood serum protein FAM221B amount" "blood atrial natriuretic peptide receptor 1 amount" "ophthalmic operation" @@ -142296,16 +142305,16 @@ "disease remission" "N-[(2E)-3-phenylprop-2-enoyl]glycine" "Chickenpox" + "chickenpox" "chicken pox" "Varicella" "chicken pox infection" "varicella" - "chickenpox" "blood serum ubiquitin thioesterase otulin amount" - "Primary skeletal dysplasia with decreased bone density" - "Primary osteodysplasia with decreased bone density" "ulnar hypoplasia-lobster-claw deformity of feet syndrome" "Van den Berghe-Dequecker syndrome" + "Primary skeletal dysplasia with decreased bone density" + "Primary osteodysplasia with decreased bone density" "blood serum carboxypeptidase Q amount" "mullerian mixed tumor" "carcinosarcoma" @@ -143932,10 +143941,10 @@ "CPXD" "PME" "Progressive myoclonus epilepsy" - "menopausal or post-menopausal disorder" "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" "immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia" "Wells-Jankovic syndrome" + "menopausal or post-menopausal disorder" "immunodeficiency type 30" "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1" "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency" @@ -144593,11 +144602,13 @@ "arsenous chloride" "lung germ cell neoplasm" "lung germ cell tumor" + "hyperparathyroidism, neonatal" + "NSHPT" "SORDD" "sorbitol dehydrogenase deficiency" "sorbitol dehydrogenase deficiency with peripheral neuropathy" - "hyperparathyroidism, neonatal" - "NSHPT" + "CRD" + "cone-rod retinal dystrophy" "Absent/hypoplastic thumbs" "Aplasia/hypoplasia of thumbs" "Absent/hypoplastic thumb" @@ -144608,8 +144619,6 @@ "Absent/underdeveloped thumb" "Hypoplastic to aplastic thumbs" "Absent or hypoplastic thumbs" - "CRD" - "cone-rod retinal dystrophy" "non poly adenylated RNA" "blood serum heat shock protein beta-6 amount" "Early Childhood, Myoclonic Epilepsy" @@ -144643,6 +144652,12 @@ "Car2" "CAII" "CA-II" + "islet cell adenomatosis" + "rhabdomyosarcoma with mixed embryonal and alveolar features" + "mixed type alveolar rhabdomyosarcoma" + "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma" + "mixed type rhabdomyosarcoma" + "mixed alveolar rhabdomyosarcoma" "acute generalised peritonitis" "acute generalized peritonitis" "peritoneum inflammation" @@ -144650,12 +144665,6 @@ "peritonitis" "primary bacterial peritonitis" "inflammation of peritoneum" - "islet cell adenomatosis" - "rhabdomyosarcoma with mixed embryonal and alveolar features" - "mixed type alveolar rhabdomyosarcoma" - "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma" - "mixed type rhabdomyosarcoma" - "mixed alveolar rhabdomyosarcoma" "blood serum coiled-coil domain-containing protein 149 amount" "blood serum trafficking protein particle complex subunit 5 amount" "Abnormality of female external genitalia" @@ -145063,6 +145072,7 @@ "Acyrthosiphum pisum" "Acyrhosiphum pisum" "blood serum cell growth regulator with EF hand domain protein 1 amount" + "Ectodermal dysplasia - acanthosis nigricans" "Short phalanges of the little finger" "Short pinky finger" "Short pinkie finger" @@ -145074,7 +145084,6 @@ "Short 5th finger" "Hypoplastic/small little finger" "Hypoplastic phalanges of the little finger" - "Ectodermal dysplasia - acanthosis nigricans" "ethanethioamide" "ND04424 cell" "NEMO deleted exon 5 syndrome" @@ -145584,6 +145593,9 @@ "Tonsils" "Adenoids" "Mandel" + "hyperinsulinemic hypoglycemia due to insulin receptor deficiency" + "hyperinsulinemic hypoglycemia, familial, type 5" + "hyperinsulinemic hypoglycemia due to INSR deficiency" "Bone Losses, Postmenopausal" "Bone Loss, Perimenopausal" "Post-Menopausal Osteoporoses" @@ -145601,9 +145613,6 @@ "Bone Loss, Postmenopausal" "Osteoporosis, Post Menopausal" "Bone Losses, Perimenopausal" - "hyperinsulinemic hypoglycemia due to insulin receptor deficiency" - "hyperinsulinemic hypoglycemia, familial, type 5" - "hyperinsulinemic hypoglycemia due to INSR deficiency" "type 1B" "blood endosialin amount" "infection by Legionella pneumophilia" @@ -145641,12 +145650,12 @@ "endocrine gland cancer" "neoplasm of endocrine system" "Endocrine tumor" - "cerebral sarcoidosis" "sarcoidosis of telencephalon" "telencephalon sarcoidosis" + "cerebral sarcoidosis" + "blood serum ragulator complex protein LAMTOR2 amount" "AML, t(16;21)(p11.2;q22.2)" "AML, t(16;21)(p11;q22)" - "blood serum ragulator complex protein LAMTOR2 amount" "(2R,3R)-5,7-dihydroxy-2-(3,4,5-trihydroxyphenyl)-3,4-dihydro-2H-chromen-3-yl 3,4,5-trihydroxybenzoate" "ulnar nerve mononeuropathy" "ulnar neuropathy" @@ -145810,6 +145819,7 @@ "autosomal recessive congenital cataract 3" "cataract (disease) caused by mutation in FOXE3" "FOXE3 cataract (disease)" + "Donohue syndrome" "Periorbital melanosis" "Pigmentation around the eyes" "Infraorbital pigmentation" @@ -145832,7 +145842,6 @@ "syndromic X-linked intellectual disability type 34" "MRXSML" "intellectual developmental disorder, X-linked syndromic 34" - "Donohue syndrome" "mucoid carcinoma" "pseudomyxoma peritonei with unknown primary site" "mucin-secreting adenocarcinoma" @@ -145901,6 +145910,8 @@ "benign neoplasm of the soft tissue and bone" "benign tumor of the soft tissue and bone" "blood serum transmembrane emp24 domain-containing protein 9 amount" + "CMT" + "Charcot-Marie-Tooth hereditary neuropathy" "Simian immunodeficiency virus caused disease or disorder" "Simian immunodeficiency virus infectious disease" "simian immunodeficiency virus infection" @@ -145914,8 +145925,6 @@ "lymphangiosarcoma" "lymphangiosarcoma of Stewart and Treves" "Stewart-Treves syndrome" - "CMT" - "Charcot-Marie-Tooth hereditary neuropathy" "blood serum target of Myb1 membrane trafficking protein amount" "hereditary mitral valve disease" "congenital anomaly of mitral valve" @@ -146029,8 +146038,6 @@ "ribonucleoside synthesis" "ribonucleoside biosynthesis" "ribonucleoside anabolism" - "HDL2" - "Huntington's disease-like 2" "renal carnitine transport defect" "deficiency of plasma-membrane carnitine transporter" "Carnitine transporter defect" @@ -146052,6 +146059,8 @@ "SUM-44PE" "SUM-44" "SUM 44" + "HDL2" + "Huntington's disease-like 2" "aortic insufficiency" "rheumatic aortic regurgitation" "Rheumatic aortic insufficiency" @@ -146117,9 +146126,9 @@ "lipoma of central nervous system" "lipoma of the central nervous system" "blood cytosolic 5'-nucleotidase 1A amount" - "Abortion, spontaneous" "brainstem medulloblastoma" "medulloblastoma of brainstem" + "Abortion, spontaneous" "leiomyoma of anus" "anal leiomyoma" "leiomyoma of the anus" @@ -146372,6 +146381,7 @@ "adenoma of the pituitary" "adenoma of pituitary gland" "adenoma, anterior lobe pituitary gland, benign" + "MRXSH" "Kaposi's sarcoma (disease) of large intestine" "large intestine Kaposi's sarcoma (disease)" "colorectal Kaposi sarcoma" @@ -146409,7 +146419,6 @@ "Malaria, unspecified" "Disease due to Plasmodiidae (disorder)" "malaria" - "MRXSH" "disease of bone development" "disease or disorder of bone development" "bone development disease or disorder" @@ -146464,11 +146473,6 @@ "Mus musculus spretus" "Algerian mouse" "western wild mouse" - "palmar region" - "palm" - "front of hand" - "palm of hand" - "regio palmaris" "C19orf12 neurodegeneration with brain iron accumulation" "NBIA4" "NBIA due to C19orf12 mutation" @@ -146478,6 +146482,11 @@ "MPAN" "neurodegeneration with brain iron accumulation caused by mutation in C19orf12" "neurodegeneration with brain iron accumulation due to C19orf12 mutation" + "palmar region" + "palm" + "front of hand" + "palm of hand" + "regio palmaris" "blood nucleophosmin amount" "(1->4)-3,6-anhydro-alpha-L-galactopyranosyl-(1->3)-beta-D-galactopyranan" "Agarose" @@ -146594,9 +146603,9 @@ "dHMN" "neuronopathy, distal hereditary motor" "dSMA" - "classically activated macrophage" "p-null phenotype" "Tj[a-]" + "classically activated macrophage" "blood serum interferon regulatory factor 8 amount" "tibiofibular terminal transverse meromelia, unilateral" "disease with focal palmoplantar hyperkeratosis as a major feature" @@ -146609,8 +146618,8 @@ "dorsal part of organism" "erythema toxicum neonatorum" "erythema toxicum" - "blood N-acetylmuramoyl-L-alanine amidase amount" "uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease" + "blood N-acetylmuramoyl-L-alanine amidase amount" "Bowen syndrome, Hutterite type" "Bowen-Conradi Hutterite syndrome" "Bowen Hutterite syndrome" @@ -146986,12 +146995,12 @@ "AR-CMT2" "Gardner syndrome" "Gardner's syndrome" - "GM17814 cell" "CDG-Io" "CDG1O" "Carbohydrate deficient glycoprotein syndrome type Io" "CDG syndrome type Io" "Congenital disorder of glycosylation type Io" + "GM17814 cell" "glycogen" "CRB2 focal segmental glomerulosclerosis" "focal segmental glomerulosclerosis type 9" @@ -147098,14 +147107,14 @@ "urethral urothelial cancer" "transitional cell carcinoma of the urethra" "Brain inflammation" + "primary chronic pseudo-obstruction of colon (disorder)" + "Colonic Pseudo-Obstruction" "congenital arthromyodysplasia" "multiple congenital arthrogryposis" "Arthromyodysplasia congenita" "myodysplasia" "AMC" "arthrogryposis multiplex congenita" - "primary chronic pseudo-obstruction of colon (disorder)" - "Colonic Pseudo-Obstruction" "Pyothorax" "pleural empyema (disease)" "abscess of pleural cavity" @@ -147194,8 +147203,8 @@ "Chédiak-Higashi disease" "CHS" "Chediak - Steinbrinck anomaly" - "Congenital finger contractures" "blood bleomycin hydrolase amount" + "Congenital finger contractures" "blood serum TOM1-like protein 1 amount" "blood serum protein delta homolog 1 amount" "Bowed femurs" @@ -147423,8 +147432,8 @@ "neoplasm of external ear" "tumor of external ear" "tumour of external ear" - "neoplasm of external Ear" "external ear neoplasm (disease)" + "neoplasm of external Ear" "external ear tumor" "tumour of external Ear" "neoplasm of the external Ear" @@ -147523,16 +147532,16 @@ "intestine epithelial tissue" "bowel epithelial tissue" "ultraviolet keratitis" + "Ocular hypertension" + "Ocular Hypertension" + "Ocular hypertension (disorder)" + "ocular hypertension" "WC00060" "mixed sclerosing bone dystrophy" "MSBD syndrome" "NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME" "NEDJED" "neurodevelopmental, jaw, eye, and digital syndrome" - "Ocular hypertension" - "Ocular Hypertension" - "Ocular hypertension (disorder)" - "ocular hypertension" "UPD(X)" "uniparental disomy of chromosome type X" "gastric fundus" @@ -147698,6 +147707,9 @@ "blood serum Capz-interacting protein amount" "immunodeficiency, common variable, type 7" "immunodeficiency, common variable, 7" + "pyelonephritis" + "Pyelonephritis" + "kidney infection" "Cockayne syndrome type a" "Cockayne syndrome type 1" "Cockayne syndrome caused by mutation in ERCC8" @@ -147705,9 +147717,6 @@ "ERCC8 Cockayne syndrome" "Cockayne syndrome type I" "Cockayne syndrome, type A" - "pyelonephritis" - "Pyelonephritis" - "kidney infection" "bronchus inflammation" "bronchial infection" "bronchitis" @@ -147899,11 +147908,11 @@ "Mosaic trisomy type 17" "Mosaic trisomy chromosome 17" "trisomy 17 mosaicism" - "blood serum integrin beta-7 amount" "hypersensitive" "hypersensitivity" "hypersensitivity reaction disease" "hypersensitivity reaction" + "blood serum integrin beta-7 amount" "Paget disease of the anal canal" "anal canal Paget's disease" "Paget's disease of the anal canal" @@ -148539,8 +148548,8 @@ "NRAS Noonan syndrome" "benign neoplasm of cauda equina" "colloidal adenocarcinoma of the colon" - "colloid adenocarcinoma of colon" "colloid colon adenocarcinoma" + "colloid adenocarcinoma of colon" "colloid adenocarcinoma of the colon" "colon colloidal adenocarcinoma" "colonic colloidal adenocarcinoma" @@ -148548,8 +148557,8 @@ "mucinous adenocarcinoma of the colon" "colon mucinous adenocarcinoma" "colloidal adenocarcinoma of colon" - "colon colloid adenocarcinoma" "colonic mucinous adenocarcinoma" + "colon colloid adenocarcinoma" "mucinous adenocarcinoma of colon" "colonic colloid adenocarcinoma" "colloidal colon adenocarcinoma" @@ -148686,10 +148695,10 @@ "partial trisomy of chromosome 1p" "partial duplication of the short arm of chromosome type 1" "partial duplication of chromosome 1p" + "Goniodysgenesis - intellectual disability - short stature" "liver failure, infantile" "fever-associated acute infantile liver failure syndrome" "infantile liver failure syndrome" - "Goniodysgenesis - intellectual disability - short stature" "Corynebacterium acnes" "Propionicibacterium acnes" "Bacillus acnes" @@ -149345,6 +149354,10 @@ "GRO:0005429" "Lagopus lagopus scoticus" "Lagopus scoticus" + "macrophage of gastrointestinal tract (lamina propria)" + "macrophage of gastrointestinal system (lamina propria)" + "gastrointestinal system (lamina propria) macrophage" + "(3beta)-cholest-5-en-3-yl octadecanoate" "epidemic louse-borne typhus" "Exanthematic Typhus fever" "Murine [endemic] typhus" @@ -149357,10 +149370,6 @@ "typhus" "typhus-group rickettsiosis" "typhus-group rickettsiae disease" - "macrophage of gastrointestinal tract (lamina propria)" - "macrophage of gastrointestinal system (lamina propria)" - "gastrointestinal system (lamina propria) macrophage" - "(3beta)-cholest-5-en-3-yl octadecanoate" "congenital absence of hand, unilateral" "kidney fibrosis" "renal fibrosis" @@ -150004,6 +150013,9 @@ "complex cortical dysplasia with other brain malformations" "Thyroid-renal-digital anomalies" "Daneman-Davy-Mancer syndrome" + "portion of pericarp tissue" + "pericarpo" + "果皮 (Japanese)" "monosomy 11qter" "11q terminal deletion disorder" "telomeric deletion 11q" @@ -150013,9 +150025,6 @@ "Del(11)(q23.3)" "distal deletion 11q" "distal monosomy 11q" - "portion of pericarp tissue" - "pericarpo" - "果皮 (Japanese)" "GM17213 cell" "otitis" "Ear infection" @@ -150110,12 +150119,6 @@ "Flt3L" "blood serum protein AMBP amount" "kallikrein, decreased urinary activity of" - "TANGO2 deficiency" - "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" - "TANGO2 Deficiency Disorder" - "transport and golgi organization protein 2 (TANGO2) deficiency" - "MECRCN" - "transport and golgi organisation protein 2 (TANGO2) deficiency" "small cell carcinoma of the cervix" "Cervical small cell cancer" "uterine cervix small cell carcinoma" @@ -150127,6 +150130,12 @@ "small cell carcinoma of the uterine cervix" "cervix small cell carcinoma" "cervix uteri small cell carcinoma" + "TANGO2 deficiency" + "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" + "TANGO2 Deficiency Disorder" + "transport and golgi organization protein 2 (TANGO2) deficiency" + "MECRCN" + "transport and golgi organisation protein 2 (TANGO2) deficiency" "blood serum papilin amount" "blood serum erlin-1 amount" "X-linked intellectual disability - gynecomastia - obesity" @@ -150290,8 +150299,8 @@ "2,3-dihydroxypropyl (9Z)-octadec-9-enoate" "1-oleoylglycerol" "Non-cerebral juvenile Gaucher disease" - "Primary blepharospasm" "GM17776 cell" + "Primary blepharospasm" "Crohn's ileitis" "kuru, susceptibility to" "combined 17-hydroxylase/17,20-lyase deficiency" @@ -150622,9 +150631,9 @@ "amyloidosis, MERETOJA type" "familial amyloidosis, Finnish type" "familial amyloid polyneuropathy type IV" - "GAMOS10" "typical endometrial hyperplasia" "endometrial hyperplasia without atypia" + "GAMOS10" "GM17262 cell" "peripheral demyelinating neuropathy" "Mesangiocapillary glomerulonephritis type 2" @@ -150640,11 +150649,11 @@ "cerebral embolism" "Intracranial Embolism" "intracranial embolism" + "DmD20_c5" "D20-c5" "ML_DmD20_c5" "DmD20-c5" "ML DmD20 c5" - "DmD20_c5" "CMT2B" "blood serum heterogeneous nuclear ribonucleoprotein A1 amount" "blood serum cAMP-dependent protein kinase type II-alpha regulatory subunit amount" @@ -150711,8 +150720,8 @@ "decidual NK cell" "dNK cell" "squamous cell carcinoma of trachea" - "tracheal epidermoid carcinoma" "epidermoid carcinoma of trachea" + "tracheal epidermoid carcinoma" "trachea squamous cell carcinoma" "tracheal squamous cell carcinoma" "epidermoid carcinoma of the trachea" @@ -150929,8 +150938,8 @@ "Porphyromonas gingivalis str. ATCC 33277" "6-chloro-1-(4-hydroxyphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol" "eye(s), dry" - "Dry Eye Syndrome" "KCS" + "Dry Eye Syndrome" "tear film insufficiency" "Tear film insufficiency" "sicca, keratoconjunctivitis" @@ -151365,8 +151374,8 @@ "blood serum low-density lipoprotein receptor-related protein 5 amount" "disease of optic tract" "disorder of optic tract" - "optic tract disease" "visual pathway disorder" + "optic tract disease" "optic tract disease or disorder" "disease or disorder of optic tract" "CD8-positive, alpha-beta Treg" @@ -152026,9 +152035,9 @@ "atrichia, generalised" "atrichia, generalized" "myopathy with abnormal lipid metabolism" - "small pre-B cell" "MRD58" "MENTAL RETARDATION, autosomal dominant 58" + "small pre-B cell" "Mycobacterium johnei" "Darmtuberculose" "Mycobacterium avium paratuberculosis" @@ -152130,9 +152139,6 @@ "blood serum carcinoembryonic antigen-related cell adhesion molecule 3 amount" "bis[2-hydroxypropane-1,2,3-tricarboxylato(3-)-kappa(3)O(1),O(2),O(3)]ferrate(3-)" "blood complement component C8 beta chain amount" - "inherited cardiac tumor" - "hereditary heart neoplasm" - "genetic heart tumor" "blood serum dual specificity protein phosphatase 15 amount" "Toxoplasmosis - congen." "mother-to-child transmission of toxoplasmosis" @@ -152160,6 +152166,9 @@ "progressive myoclonic epilepsy type 2" "myoclonic epilepsy of Lafora" "epilepsy, progressive myoclonic 2A (Lafora)" + "inherited cardiac tumor" + "hereditary heart neoplasm" + "genetic heart tumor" "Raised intracranial pressure" "raised intracranial pressure" "Intracranial Hypertension" @@ -152755,9 +152764,6 @@ "partial trisomy of chromosome 3" "DEL cells" "DEL" - "Stiff joint" - "Joint stiffness" - "Stiff joints" "Fibromuscular hyperplasia of artery (disorder)" "Fibromuscular hyperplasia of arteries NOS (disorder)" "Fibromuscular Dysplasia" @@ -152767,6 +152773,9 @@ "Fibromuscular dysplasia (morphologic abnormality)" "Fibromuscular hyperplasia of artery" "fibromuscular dysplasia" + "Stiff joint" + "Joint stiffness" + "Stiff joints" "blood serum Phosphatidylcholine (16:1_18:2) amount" "15q11.2 BP1-BP2 microdeletion syndrome" "chromosome 15q11.2 deletion syndrome" @@ -152823,9 +152832,9 @@ "Jaw-winking syndrome" "blood tubulinyl-Tyr carboxypeptidase 1 amount" "blood serum lipocalin-like 1 protein amount" - "blood serum inositol 1,4,5-triphosphate receptor associated 1 amount" "Thyroid abnormality" "Abnormality of the thyroid gland" + "blood serum inositol 1,4,5-triphosphate receptor associated 1 amount" "hexosaminidase A deficiency, adult form" "GM2 gangliosidosis, B variant, adult form" "pontoneocerebllar hypoplasia" @@ -153182,12 +153191,12 @@ "ABCB4 progressive familial intrahepatic cholestasis" "cholestasis, progressive familial intrahepatic 3" "cholestasis, progressive familial intrahepatic, type 3" - "Nervous" - "Feeling of Nervousnes" "ovarian insufficiency" "ovarian failure" "ovarian dysfunction" "ovarian hypofunction" + "Nervous" + "Feeling of Nervousnes" "Helicobacter pylori strain 26695" "Helicobacter pylori ATCC 700392" "Helicobacter pylori str. 26695" @@ -153340,12 +153349,6 @@ "stage 0 transitional cell carcinoma of the urinary bladder" "blood serum serine dehydratase-like amount" "SPERM" - "disease of rectum" - "rectal disorder" - "disorder of rectum" - "rectum disease" - "disease or disorder of rectum" - "rectum disease or disorder" "ovary mucinous adenocarcinoma" "mucinous carcinoma of the ovary" "ovarian mucinous adenocarcinoma" @@ -153354,6 +153357,12 @@ "ovarian mucinous carcinoma" "mucinous carcinoma of ovary" "HLD20" + "disease of rectum" + "rectal disorder" + "disorder of rectum" + "rectum disease" + "disease or disorder of rectum" + "rectum disease or disorder" "Abnormal muscle fibre dystrophin expression" "intraneural perineurioma (WHO grade I)" "intraneural perineurioma" @@ -153852,12 +153861,12 @@ "Difficulty articulating speech" "physiological response to stimulus" "Jo-1 autoantibody measurement" - "blood serum pregnancy-specific beta-1-glycoprotein 6 amount" - "blood glyoxalase domain-containing protein 4 amount" "inflammatory disorder" "inflammation of anatomical structure" "anatomical structure inflammation" "inflammatory disease" + "blood serum pregnancy-specific beta-1-glycoprotein 6 amount" + "blood glyoxalase domain-containing protein 4 amount" "blood serum ribose-phosphate pyrophosphokinase 1 amount" "blood serum bifunctional peptidase and arginyl-hydroxylase JMJD5 amount" "Mo.6C-II-" @@ -154417,8 +154426,8 @@ "Prostatic Adenomas" "benign hypertrophy of prostate NOS" "Benign enlargement of prostate" - "Prostatic Hyperplasia" "BPH" + "Prostatic Hyperplasia" "Prostatauxe" "benign hyperplasia of prostate" "Hyperplasia of prostate" @@ -154575,9 +154584,6 @@ "gracile bone dysplasia" "osteocraniostenosis" "blood serine protease inhibitor Kazal-type 5 amount" - "Childhood ataxia with diffuse central nervous system hypomyelination" - "Myelinosis centralis diffusa" - "Leukoencephalopathy with vanishing white matter" "hunting reaction" "CIVD" "(Campylobacter GIT infection (& [diarrhea] or [enteritis]) or (helicobacter gastritis)" @@ -154586,6 +154592,9 @@ "Campylobacteriosis (disorder)" "Helicobacter pylori strain J99" "Helicobacter pylori str. J99" + "Childhood ataxia with diffuse central nervous system hypomyelination" + "Myelinosis centralis diffusa" + "Leukoencephalopathy with vanishing white matter" "blood ataxin-3 amount" "Bradyrhizobium japonicum str. USDA 110" "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction" @@ -154607,8 +154616,8 @@ "distal straight tubule" "tubulus rectus distalis" "loop of Henle ascending limb thick segment" - "thick ascending limb of distal tubule" "straight portion of distal convoluted renal tubule" + "thick ascending limb of distal tubule" "straight portion of distal convoluted tubule" "ascending thick limb" "thick ascending limb" @@ -154712,10 +154721,10 @@ "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" "blood serum caspase recruitment domain-containing protein 19 amount" "rare hypoaldosteronism" + "Hereditary benign chorea" "blood serum ubiquitin carboxyl-terminal hydrolase 21 amount" "frontonasal dysplasia type 3" "ALX1-related frontonasal dysplasia" - "Hereditary benign chorea" "blood ribokinase amount" "angiokeratoma corporis diffusum with arteriovenous fistulas" "loricrin keratoderma" @@ -154918,12 +154927,12 @@ "F9" "RCB1555" "phosphatidylcholine O-34:1" + "Intellectual deficiency - epilepsy - endocrine disorders" + "BFLS" "salmonid viral hemorrhagic septicemia" "Hemorrhagic Septicemia, Viral" "Egtved Disease" "blood serum gephyrin amount" - "Intellectual deficiency - epilepsy - endocrine disorders" - "BFLS" "blood serum TIMELESS-interacting protein amount" "megaconial type congenital muscular dystrophy" "congenital muscular dystrophy with mitochondrial structural abnormalities" @@ -155004,12 +155013,12 @@ "mycosis fungoides" "CTCL/ mycosis fungoides" "mycosis fungoides lymphoma" - "blood aldehyde dehydrogenase 1A1 amount" "Roseolovirus disease or disorder" "Roseolovirus caused disease or disorder" "roseolovirus infectious disease" "Roseolovirus infectious disease" "Roseolovirus Infections" + "blood aldehyde dehydrogenase 1A1 amount" "familial benign hypocalciuric hypercalcemia" "familial benign hypercalcemia" "gamma-delta T lymphocyte" @@ -155082,11 +155091,11 @@ "COXPD25" "(2S,3R,4S)-4-[(2S,5R,7S,8R,9S)-2-{(2S,2'R,3'S,5R,5'R)-2-ethyl-5'-[(2S,3S,5R,6R)-6-hydroxy-6-(hydroxymethyl)-3,5-dimethyltetrahydro-2H-pyran-2-yl]-3'-methyloctahydro-2,2'-bifuran-5-yl}-9-hydroxy-2,8-dimethyl-1,6-dioxaspiro[4.5]dec-7-yl]-3-methoxy-2-methylpentanoic acid" "Monensin A" + "(2S)-2-amino-4-(hydroxyphosphinyl)butanoic acid" "Orofaciodigital syndrome, Edwards type" "Oral-facial-digital syndrome type 8" "OFD8" "Oral-facial-digital syndrome, Edwards type" - "(2S)-2-amino-4-(hydroxyphosphinyl)butanoic acid" "acromesomelic dysplasia 2B" "fibular hypoplasia and complex brachydactyly" "Du Pan syndrome" @@ -155200,12 +155209,12 @@ "Hunter's glossitis" "atrophy of tongue papillae" "glossitis, Hunter's" - "blood N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming amount" "epileptic encephalopathy, early infantile, 52" "DEE52" "developmental and epileptic encephalopathy 52" "EIEE52" "metacarpal" + "blood N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming amount" "(2R)-2-hydroxy-3-(octadecanoyloxy)propyl 2-(trimethylazaniumyl)ethyl phosphate" "marginal blastomeres" "Del (5)(qter)" @@ -155455,13 +155464,13 @@ "ataxia telangiectasia syndrome" "ataxia telangiectasia" "ataxia - telangiectasia" - "level of PC(17:0_18:1) in blood serum" - "blood serum PC(17:0_18:1) amount" "Kunze-Riehm syndrome" "circumferential skin creases, Kunze type" "CSCSC" "CCSF" "congenital circumferential skin folds" + "level of PC(17:0_18:1) in blood serum" + "blood serum PC(17:0_18:1) amount" "3-phenyllactate" "2-hydroxy-3-phenylpropanoate" "ocular vasculature" @@ -155666,9 +155675,9 @@ "Paratyphoid Fever C" "Paratyphoid Fever" "blood serum MANSC domain-containing protein 4 amount" - "blood serum protein C-ets-2 amount" "syndromic aniridia" "syndrome associated with aniridia" + "blood serum protein C-ets-2 amount" "EPC" "indolent B-cell NHL" "hereditary restrictive cardiomyopathy" @@ -155858,12 +155867,12 @@ "4th arch artery" "fourth aortic arch" "AA4" - "Teebi-Kaurah syndrome" "Del(14)(q11.2)" "chromosome 14q11-q22 deletion syndrome, isolated cases" "monosomy 14q11.2" "14q11.2 microdeletion syndrome" "chromosome 14q11-q22 deletion syndrome" + "Teebi-Kaurah syndrome" "Albright hereditary osteodystrophy-like syndrome" "monosomy 2q37-qter" "brachydactyly intellectual disability syndrome" @@ -155969,6 +155978,7 @@ "Motor developmental milestones not achieved" "Delay in motor development" "blood serum F-actin-capping protein subunit beta amount" + "TAG 48:2" "colon neuroendocrine tumour" "neuroendocrine neoplasm of the colon" "colon neuroendocrine tumor" @@ -155979,7 +155989,6 @@ "colon NET" "colon neuroendocrine tumor, well differentiated, low or intermediate grade" "colonic neuroendocrine neoplasm" - "TAG 48:2" "cowpox" "yaba" "Cowpox" @@ -156201,17 +156210,17 @@ "SPDA" "ADCA-DN syndrome" "autosomal dominant cerebellar ataxia, deafness and narcolepsy" + "Gorham disease" + "Gorham syndrome" + "Idiopathic massive osteolysis" + "Progressive massive osteolysis" + "Vanishing bone disease" "thromboxane synthase deficiency" "TBXAS1 inherited bleeding disorder, platelet-type" "BDPLT14" "inherited bleeding disorder, platelet-type caused by mutation in TBXAS1" "sialic acid storage disorder, infantile" "ISSD" - "Gorham disease" - "Gorham syndrome" - "Idiopathic massive osteolysis" - "Progressive massive osteolysis" - "Vanishing bone disease" "osteodysplastic primordial dwarfism, type 1" "cephaloskeletal dysplasia" "MOPD1" @@ -156222,11 +156231,11 @@ "low-birth-weight dwarfism with skeletal dysplasia" "Taybi-Linder syndrome" "brachymelic primordial dwarfism" - "Loeys-Dietz syndrome type 3" - "aneurysm-osteoarthritis syndrome" "Heart-hand syndrome type 1" "HOS" "Atriodigital dysplasia type 1" + "Loeys-Dietz syndrome type 3" + "aneurysm-osteoarthritis syndrome" "Melanoma Mel-2183" "Mel 2183" "Mel_2183" @@ -156700,12 +156709,12 @@ "congenital disorder of glycosylation type IIj" "COG4-CDG" "CDG syndrome type IIj" - "hereditary anetoderma" - "hereditary macular atrophy" "Porphyra yezoensis" "hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria" "Gitelman syndrome" "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria" + "hereditary anetoderma" + "hereditary macular atrophy" "cold urticaria" "chronic cold urticaria" "cold-induced urticaria" @@ -157051,8 +157060,6 @@ "Tibial pseudoarthrosis" "blood serum NEDD8 protein amount" "hydrocele testis" - "Del(14)(q24.1q24.3)" - "monosomy 14q24.1q24.3" "undifferentiated ovarian carcinoma" "ovary undifferentiated carcinoma" "undifferentiated carcinoma of ovary" @@ -157062,12 +157069,14 @@ "anaplastic carcinoma of the ovary" "undifferentiated carcinoma of the ovary" "anaplastic carcinoma of ovary" + "Del(14)(q24.1q24.3)" + "monosomy 14q24.1q24.3" "blood dihydroorotate dehydrogenase (quinone), mitochondrial amount" + "neurogenic bowel" + "Neurogenic Bowel" "aortic arch 5" "fifth aortic arch" "AA5" - "neurogenic bowel" - "Neurogenic Bowel" "autosomal dominant mental retardation 23" "intellectual disability, autosomal dominant type 23" "intellectual developmental disorder, autosomal dominant 23" @@ -158003,8 +158012,8 @@ "Erythrocyte Corpuscular Hemoglobin Concentration Distribution Width" "Corpuscular HGB Conc Distribution Width" "CHDW" - "O-linoleyl-L-carnitine" "Rhamphochromis 'chilingali'" + "O-linoleyl-L-carnitine" "17p11.2 microduplication syndrome" "Potocki-Lupski syndrome, Isolated cases" "17p11.2 Duplication syndrome" @@ -158085,8 +158094,8 @@ "malignant supraglottic neoplasm" "cancer of supraglottic part of larynx" "malignant tumour of the supraglottis" - "malignant tumour of supraglottis" "malignant supraglottic tumor" + "malignant tumour of supraglottis" "malignant supraglottis tumor" "malignant neoplasm of the supraglottis" "malignant tumor of the supraglottis" @@ -158318,7 +158327,6 @@ "AGEPC (acetyl glyceryl ether phosphorylcholine) levels" "PAF acether levels" "[(2R)-2-acetyloxy-3-hexadecoxypropyl] 2-(trimethylazaniumyl)ethyl phosphate levels" - "Macroblepharon - ectropion - hypertelorism - macrostomia syndrome" "blood serum lymphokine-activated killer T-cell-originated protein kinase amount" "Methanobacterium ruminantium" "blood serum tRNA-specific adenosine deaminase 2 amount" @@ -158332,6 +158340,7 @@ "mouse" "mice C57BL/6xCBA/CaJ hybrid" "Mus muscaris" + "Macroblepharon - ectropion - hypertelorism - macrostomia syndrome" "Reduced serum alpha-1-antitrypsin" "blood serum caspase recruitment domain-containing protein 18 amount" "KAT6A Syndrome" @@ -159032,8 +159041,8 @@ "Franek-Bocker-Kahlen syndrome" "pharynx carcinoma" "carcinoma of the pharynx" - "carcinoma of pharynx" "pharyngeal throat cancer" + "carcinoma of pharynx" "pharyngeal carcinoma" "cancer of the pharynx" "adverse reaction" @@ -159206,12 +159215,12 @@ "monocyte chemoattractant protein-1 measurement" "monocyte chemotactic protein-1 levels" "monocyte chemotactic protein-1 measurement" + "hemangioma of intra-abdominal structure" "intra-abdominal hemangioma" "hemangioma, intra-abdominal" "hemangioma of intra-abdominal structures" "abdominal cavity hemangioma" "hemangioma of abdominal cavity" - "hemangioma of intra-abdominal structure" "Focal somatosensory seizure" "Somatosensory auras" "Partial somatosensory seizure" @@ -159235,9 +159244,9 @@ "mesenchymal dysplasia" "Molluscum fibrosum" "Puretic syndrome" + "blood serum neurocan core protein amount" "lightheadedness" "dizzy" - "blood serum neurocan core protein amount" "hearing loss, autosomal recessive" "3-hydroxy-3-methylpentanedioic acid" "blood serum troponin T, cardiac muscle amount" @@ -159744,8 +159753,8 @@ "port-wine stain of skin" "port wine stain of the skin" "port wine stain" - "blood serum tumor necrosis factor receptor superfamily member 3 amount" "hypomandibular faciocranial dysostosis" + "blood serum tumor necrosis factor receptor superfamily member 3 amount" "apple maggot" "follicular lymphoma, susceptibility to, 1" "FL1" @@ -160251,9 +160260,9 @@ "hereditary spastic paraplegia type 73" "autosomal dominant spastic paraplegia 73" "SPG73" + "FHR proteins measurement" "low density lipoprotein peak particle diameter measurement" "VIBOS" - "FHR proteins measurement" "dysthymic disorder" "Persistent depressive disorder" "persistent mood" @@ -160461,8 +160470,8 @@ "blood serum sperm protein associated with the nucleus on the X chromosome N4 amount" "blood serum voltage-dependent L-type calcium channel subunit beta-3 amount" "Beare-Stevenson cutis gyrata syndrome" - "blood serum inositol hexakisphosphate kinase 1 amount" "blood serum general transcription factor IIF subunit 2 amount" + "blood serum inositol hexakisphosphate kinase 1 amount" "Arnold-Chiari malformation type 2" "Chiari malformation type 2" "Chiari malformation type II" @@ -160799,8 +160808,8 @@ "Frydman-Cohen-Karmon syndrome" "(2S)-3-(2-mercapto-1H-imidazol-5-yl)-2-(trimethylazaniumyl)propanoate" "COI" - "blood serum pyruvate carboxylase, mitochondrial amount" "flower morphogenesis stage" + "blood serum pyruvate carboxylase, mitochondrial amount" "Integument" "Short stature, disproportionate short-limb" "Short stature, disproportionate short limb" @@ -160886,9 +160895,9 @@ "age cervical dystonia symptoms begin" "age at onset of cervical dystonia" "blood serum MICAL-like protein 2 amount" - "blood serum carboxypeptidase A2 amount" "multiple polyps" "polyposis" + "blood serum carboxypeptidase A2 amount" "acquired immunodeficiency of adults" "adult-onset immunodeficiency with anti-interferon-gamma autoantibodies" "adult acquired immunodeficiency" @@ -161012,13 +161021,13 @@ "Trisomy 21 (Down Syndrome)Downs SyndromeTrisomy 21 Syndrome" "Downs Syndrome" "palmoplantar keratoderma-clinodactyly syndrome" - "Monosomy 16q24.3" - "Del(16)(q24.3)" "blood serum TSC22 domain family protein 3 amount" "stratum granulosum of ovarian follicle" "granulosa cell layer of ovarian follicle" "membrana granulosa of ovarian follicle" "ovary stratum granulosum" + "Monosomy 16q24.3" + "Del(16)(q24.3)" "blood serum ubiquitin carboxyl-terminal hydrolase 4 amount" "C-reactive protein level" "type 1 syndactyly-microcephaly-intellectual disability syndrome" @@ -161365,14 +161374,14 @@ "r6" "Powell-Venencie-Gordon syndrome" "palmoplantar hyperkeratosis-spastic paralysis syndrome" - "tuberculosis, cardiovascular" - "cardiac tuberculosis" - "cardiovascular tuberculosis" "medullomyoblastoma" "medullomyoblastoma with myogenic differentiation" "Low solidness and mass of the bones" "Decreased bone mineral density Z score" "Decreased bone mineral density" + "tuberculosis, cardiovascular" + "cardiac tuberculosis" + "cardiovascular tuberculosis" "benign choroid plexus tumour" "benign choroid plexus neoplasm" "benign tumour of the choroid plexus" @@ -161418,6 +161427,12 @@ "Holmes-Collins syndrome" "forefin skeleton" "MEPCA" + "vitreous body disease" + "vitreous body disease or disorder" + "vitreous body disorder" + "disorder of vitreous body" + "disease of vitreous body" + "disease or disorder of vitreous body" "Arterial Diseases, External Carotid" "Arterial Diseases, Common Carotid" "carotid artery disorder" @@ -161452,12 +161467,6 @@ "Arterial Disease, Carotid" "Disorders, Carotid Artery" "INTERNAL CAROTID ARTERY DIS" - "vitreous body disease" - "vitreous body disease or disorder" - "vitreous body disorder" - "disorder of vitreous body" - "disease of vitreous body" - "disease or disorder of vitreous body" "blood serum StAR-related lipid transfer protein 5 amount" "caudate putamen" "caudateputamen" @@ -161474,12 +161483,12 @@ "craniosynostosis syndrome" "localised" "localized" + "blood charged multivesicular body protein 6 amount" + "blood serum BRCA2 and CDKN1A-interacting protein amount" "sweat rash" "prickly heat" "heat rash" "miliaria" - "blood charged multivesicular body protein 6 amount" - "blood serum BRCA2 and CDKN1A-interacting protein amount" "syndromic keratoconus (disease)" "syndrome associated with keratoconus (disease)" "blood serum programmed cell death protein 6 amount" @@ -161664,11 +161673,11 @@ "blood serum eyes absent homolog 2 amount" "N-{2-[4-(3-{4-amino-5-chloro-2-[(3,5-dimethoxybenzyl)oxy]phenyl}-3-oxopropyl)piperidin-1-yl]ethyl}methanesulfonamide hydrochloride" "blood serum spermatogenesis-associated protein 20 amount" + "abdominal aortic fatty streaks" "free limb" "tetrapod limb" "pentadactyl limb" "limb sensu Vertebrata" - "abdominal aortic fatty streaks" "CMT4G" "Hereditary motor and sensory neuropathy, Russe Type" "HMSNR" @@ -161863,11 +161872,11 @@ "blood vessel of trachea" "Lateral geniculate body" "Lateral geniculate complex" + "foliage leaf, leaf, vascular, vascular leaves" "type II NKT cell" "type II NK T-lymphocyte" "type II NK T-cell" "type II NK T lymphocyte" - "foliage leaf, leaf, vascular, vascular leaves" "BJ-ELR, BJ ELR" "blood dipeptidyl aminopeptidase-like protein 6 amount" "blood serum zinc finger protein 175 amount" @@ -162416,10 +162425,10 @@ "central conducting lymphatic anomaly" "lymphatic malformation 12" "LMPHM12" - "blood serum ubiquitin domain-containing protein 2 amount" "Pierre Robin sequence - congenital heart defect - talipes" "Pierre Robin syndrome - congenital heart defect - talipes" "Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava" + "blood serum ubiquitin domain-containing protein 2 amount" "Postoperative Nausea and Vomiting" "blood serum protein kinase C and casein kinase substrate in neurons protein 3 amount" "fl" @@ -162428,8 +162437,8 @@ "disease or disorder of paranasal sinus" "paranasal sinus disease" "disease of paranasal sinus" - "disorder of paranasal sinus" "paranasal sinus disease or disorder" + "disorder of paranasal sinus" "sinus disorder" "blood serum interferon regulatory factor 4 amount" "Populus trichocarpa Torr. & A.Gray" @@ -162465,7 +162474,6 @@ "esophageal diverticulosis" "Diverticulosis, Esophageal" "blood 1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphoethanolamine amount" - "blood serum alpha-1-syntrophin amount" "Reticuloendothelial hyperplasia" "darling disease" "Histoplasma disease or disorder" @@ -162474,6 +162482,7 @@ "Histoplasma caused disease or disorder" "Histoplasma infectious disease" "histoplasmosis" + "blood serum alpha-1-syntrophin amount" "blood serum protein kish-B amount" "hereditary thrombophilia" "thrombophilia, hereditary" @@ -162868,9 +162877,9 @@ "LCH" "Herbaspirillum seropedicae strain SmR1" "Herbaspirillum seropedicae str. SmR1" + "macrocephaly-intellectual disability-autism syndrome" "Ficoll gradient" "Ficoll WBC Isolation" - "macrocephaly-intellectual disability-autism syndrome" "MRSA Pneumonia" "Methicillin-Resistant Staphylococcus Aureus Pneumonia" "Methicillin-Resistant Staphylococcus aureus Pneumonia" @@ -163270,8 +163279,8 @@ "adenomyoma of the body of uterus" "adenomyoma of body of uterus" "adenomyoma of the uterine corpus" - "corpus uteri adenomyoma" "uterine body adenomyoma" + "corpus uteri adenomyoma" "adenomyoma of the uterine body" "continuous muscle fibre activity hereditary" "continuous muscle fiber activity hereditary" @@ -163299,12 +163308,12 @@ "infantile spasms" "intellectual disability-hypsarrhythmia syndrome" "blood complement receptor type 1 amount" - "blood U6 snRNA-associated Sm-like protein LSm8 amount" "Coma caused by low blood sugar" "Coma, hypoglycemic" "Hypoglycaemic coma" "Hypoglycemic coma" "Loss of consciousness due to hypoglycemia" + "blood U6 snRNA-associated Sm-like protein LSm8 amount" "craniosynostosis caused by mutation in ALX4" "craniosynostosis 5, susceptibility to" "ALX4 craniosynostosis" @@ -163549,27 +163558,27 @@ "immunodeficiency-related disorder" "Immunodepression-related disorder" "blood serum glyoxylate reductase/hydroxypyruvate reductase amount" - "TNFRSF1A multiple sclerosis, susceptibility to" - "multiple sclerosis, susceptibility to, 5" - "multiple sclerosis, susceptibility to caused by mutation in TNFRSF1A" - "multiple sclerosis, susceptibility to, type 5" "Orofaciodigital syndrome, Gabrielli type" "Oral-facial-digital syndrome type 11" "Oral-facial-digital syndrome, Gabrielli type" "OFD11" + "TNFRSF1A multiple sclerosis, susceptibility to" + "multiple sclerosis, susceptibility to, 5" + "multiple sclerosis, susceptibility to caused by mutation in TNFRSF1A" + "multiple sclerosis, susceptibility to, type 5" "nabais sa-de vries syndrome, type 2" "hereditary atransferrinemia" "atransferrinemia" "familial hypotransferrinemia" "congenital hypotransferrinemia" "congenital atransferrinemia" - "blood serum CCAAT/enhancer-binding protein alpha amount" "thymic squamous cell carcinoma" "squamous cell carcinoma of the Thymus" "Thymus squamous cell carcinoma" "squamous cell carcinoma of Thymus" "thymus squamous cell carcinoma" "epidermoid thymic carcinoma" + "blood serum CCAAT/enhancer-binding protein alpha amount" "parietal foramina caused by mutation in MSX2" "MSX2 parietal foramina" "parietal foramina 1" @@ -163648,13 +163657,13 @@ "Lactococcus lactis cremoris" "Lactococcus cremoris" "Streptococcus lactis B" - "MRGH" "Bos syndrome" "Bohring-Opitz syndrome" "Oberklaid-Danks syndrome" "Bohring syndrome" "C-like syndrome" "Opitz trigonocephaly-like syndrome" + "MRGH" "Vermian atrophy" "Atrophy of the cerebellar vermis" "Atrophy of cerebellar vermis" @@ -163730,14 +163739,6 @@ "small intestinal sarcoma" "GM14468 cell" "Say-Barber-Hobbs syndrome" - "skin eruption" - "rash|exanthema" - "exanthem (disease)" - "Rash" - "skin Rash" - "cutaneous eruption" - "exanthem" - "exanthema" "acute monocytic leukemia, morphology" "leukemia, monocytic, malignant" "AML M5" @@ -163766,6 +163767,14 @@ "hereditary acute myeloid leukemia" "Pure familial acute myeloid leukaemia" "Pure familial acute myeloid leukemia" + "skin eruption" + "rash|exanthema" + "exanthem (disease)" + "Rash" + "skin Rash" + "cutaneous eruption" + "exanthem" + "exanthema" "Recurrent inflammation of tonsils" "CSS" "leukodystrophy, hypomyelinating, 15" @@ -163791,9 +163800,9 @@ "FLNC hypertrophic cardiomyopathy" "hypertrophic cardiomyopathy caused by mutation in FLNC" "endotoxemia" + "blood serum interferon alpha-14 amount" "Conorenal syndrome" "Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia" - "blood serum interferon alpha-14 amount" "response to Coumadin" "Coumadin response" "AG04351 cell" @@ -163843,9 +163852,9 @@ "cementum" "cementum of tooth" "cement" + "femoral intercalary meromelia, bilateral" "segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome" "SOLAMEN syndrome" - "femoral intercalary meromelia, bilateral" "embryonic ectoderm" "disorder of gastric function" "disorder of function of stomach" @@ -163873,13 +163882,13 @@ "occupational eczema" "occupational allergic contact dermatitis" "occupational eczema (disorder) [ambiguous]" - "blood serum multiple inositol polyphosphate phosphatase 1 amount" "Scyliorhinus caniculus" "smaller spotted dogfish" "Scyliorhinus canicula (Linnaeus, 1758)" "smaller spotted catshark" "spotted catshark" "spotted dogfish" + "blood serum multiple inositol polyphosphate phosphatase 1 amount" "BECTS" "Benign familial epilepsy of childhood with rolandic spikes" "Benign epilepsy of childhood with centrotemporal spikes" @@ -164182,12 +164191,6 @@ "X-linked MSMD" "Brown-Squard syndrome" "Brown-Sequard syndrome" - "colorectal (colon or rectal) gastrointestinal stromal tumour (gist)" - "colorectal (colon or rectal) gastrointestinal stromal tumor (gist)" - "colorectal gastrointestinal stromal tumor" - "colorectal gastrointestinal stromal tumor (gist)" - "colorectal gastrointestinal stromal tumour (gist)" - "colorectal gist" "Vitreous Fluid, Blood In" "Blood In Vitreous Fluid," "Blood In Vitreous" @@ -164205,6 +164208,12 @@ "cranio-lenticulo-sutural dysplasia, CLSD" "Boyadjiev-Jabs syndrome" "craniolenticulosutural dysplasia" + "colorectal (colon or rectal) gastrointestinal stromal tumour (gist)" + "colorectal (colon or rectal) gastrointestinal stromal tumor (gist)" + "colorectal gastrointestinal stromal tumor" + "colorectal gastrointestinal stromal tumor (gist)" + "colorectal gastrointestinal stromal tumour (gist)" + "colorectal gist" "capsula glomerularis" "renal glomerular capsule" "Bowman's capsule" @@ -164525,10 +164534,10 @@ "pharynx muscle organ" "pharynx muscle" "pharyngeal muscle" + "ASD, sinus venosus type" "Bartter syndrome type III" "Bartter syndrome type 3" "Adult Bartter syndrome" - "ASD, sinus venosus type" "Extreme thirst" "blood serum copine-7 amount" "blood serum neurexophilin-2 amount" @@ -164636,8 +164645,8 @@ "malignant tumor, giant cell type" "monosomy 19p13.12" "Del(19)(p13.12)" - "LysoPC(15:0)" "blood serum klotho amount" + "LysoPC(15:0)" "Alport's syndrome" "Alport syndrome" "Alport deafness-nephropathy" @@ -164645,6 +164654,14 @@ "adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency" "CYP11B1 deficiency" "blood serum tyrosine-protein kinase BLK amount" + "TLR5 systemic lupus erythematosus (disease)" + "systemic lupus erythematosus, susceptibility to, type 1" + "systemic lupus erythematosus, resistance to" + "susceptibility to systemic lupus erythematosus 1" + "systemic lupus erythematosus, susceptibility to, 1" + "systemic lupus erythematosus, resistance to, 1" + "SLEB1" + "systemic lupus erythematosus (disease) caused by mutation in TLR5" "leiomyoma of the oesophagus" "leiomyoma of the esophagus" "leiomyoma of esophagus" @@ -164656,14 +164673,6 @@ "Prochlorococcus marinus sp. MED4" "Prochlorococcus sp. MED4" "Prochlorococcus marinus MED4" - "TLR5 systemic lupus erythematosus (disease)" - "systemic lupus erythematosus, susceptibility to, type 1" - "systemic lupus erythematosus, resistance to" - "susceptibility to systemic lupus erythematosus 1" - "systemic lupus erythematosus, susceptibility to, 1" - "systemic lupus erythematosus, resistance to, 1" - "SLEB1" - "systemic lupus erythematosus (disease) caused by mutation in TLR5" "presumptive mesencephalon" "sebaceous breast carcinoma" "breast sebaceous adenocarcinoma" @@ -164730,9 +164739,9 @@ "disease of eyelid" "eyelid disease or disorder" "chlamydiaceae infections" + "blood serum hemoglobin subunit epsilon amount" "colitis of indeterminate type" "indeterminate colitis" - "blood serum hemoglobin subunit epsilon amount" "response to mercaptopurine trait" "blood serum dual specificity mitogen-activated protein kinase kinase 5 amount" "blood serum leukosialin amount" @@ -165107,11 +165116,11 @@ "diffuse nonepidermolytic palmoplantar keratoderma" "vertebral, cardiac, renal, and limb defects syndrome 2" "EDS with periventricular heterotopia" - "Saito-Kuba-Tsuruta syndrome" "blood serum frizzled-4 amount" "Okt4 epitope deficiency" - "thyrotoxicosis" + "Saito-Kuba-Tsuruta syndrome" "Teebi-Al Saleh-Hassoon syndrome" + "thyrotoxicosis" "Male EBP disorder with neurological defects" "TAG 54:4" "lupus glomerulonephritis" @@ -165506,14 +165515,14 @@ "blood serum probable E3 ubiquitin-protein ligase TRIML1 amount" "Spastic quadriplegic cerebral palsy" "Inherited congenital spastic quadriplegia" - "childhood adrenal gland pheochromocytoma" - "malignant childhood adrenal gland pheochromocytoma" "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness" "EDS, kyphoscoliotic and hearing loss type" "EDS with progressive kyphoscoliosis, myopathy, and deafness" "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type" "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" "EDS with progressive kyphoscoliosis, myopathy, and hearing loss" + "childhood adrenal gland pheochromocytoma" + "malignant childhood adrenal gland pheochromocytoma" "L-seryl-L-tyrosyl-L-seryl-L-methionyl-L-alpha-glutamyl-L-histidyl-L-phenylalanyl-L-arginyl-L-tryptophylglycyl-L-lysyl-L-prolyl-L-valylglycyl-L-lysyl-L-lysyl-L-arginyl-L-arginyl-L-prolyl-L-valyl-L-lysyl-L-valyl-L-tyrosyl-L-prolyl-L-alpha-aspartylglycyl-L-alanyl-L-alpha-glutamyl-L-alpha-aspartyl-L-alpha-glutamyl-L-seryl-L-alanyl-L-alpha-glutamyl-L-alanyl-L-phenylalanyl-L-prolyl-L-leucyl-L-alpha-glutamyl-L-phenylalanine" "Corticotropin" "blood serum adhesion G-protein coupled receptor D1 amount" @@ -165642,10 +165651,10 @@ "papillary tumor of the ovary" "papillary neoplasm of the ovary" "papillary neoplasm of ovary" - "T.DP.sm.Th" "HeB" "C3Fe" "C3H Fekete" + "T.DP.sm.Th" "meningococcemia" "blood serum UTP--glucose-1-phosphate uridylyltransferase amount" "blood serum beta-defensin 116 amount" @@ -165755,9 +165764,9 @@ "Autosomal dominant cerebellar ataxia type IV" "ADCAIV" "ADCA4" - "blood serum Rho guanine nucleotide exchange factor 2 amount" "Hemorrhage of the eye" "Bleeding from the eye" + "blood serum Rho guanine nucleotide exchange factor 2 amount" "Increased bitemporal dimension" "Increased bitemporal width" "Wide forehead" @@ -166127,7 +166136,6 @@ "anaplastic ependymoma of adults" "adult malignant ependymoma" "adult anaplastic ependymoma" - "congenital T-cell immunodeficiency" "Griscelli-Pruniéras syndrome type 2" "Griscelli syndrome with hemophagocytic syndrome" "GS2" @@ -166137,6 +166145,7 @@ "Griscelli syndrome type 2" "PAID syndrome" "Griscelli-PruniC)ras syndrome type 2" + "congenital T-cell immunodeficiency" "N-methyl-D-aspartate selective glutamate receptor activity" "NMDA receptor" "pseudosarcomatous fasciitis" @@ -166332,8 +166341,8 @@ "borderline ovarian serous tumor" "ovarian serous neoplasm of low malignant potential" "ovarian serous tumour of low malignant potential" - "serous ovarian tumor of low malignant potential" "proliferating serous tumor of the ovary" + "serous ovarian tumor of low malignant potential" "proliferating ovarian serous tumor" "proliferating serous neoplasm of ovary" "serous neoplasm of the ovary with low malignant potential" @@ -166632,7 +166641,6 @@ "coloboma of optic nerve (disease)" "coloboma of optic papilla" "RCB1154" - "purpura gangrenosa" "XLMTM" "X-linked centronuclear myopathy" "centronuclear myopathy, X-linked" @@ -166640,6 +166648,7 @@ "MTM" "XLCNM" "myotubular myopathy, X-linked, X-linked recessive" + "purpura gangrenosa" "blood serum sentrin-specific protease 7 amount" "urea" "Urea" @@ -166734,7 +166743,6 @@ "CORL-23" "chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis" "rapidly progressive glomerulonephritis, chronic" - "blood serum centrosomal protein of 41 kDa amount" "Glycogenosis type Ib" "G6P translocase deficiency" "Glycogenosis due to glucose-6-phosphatase transport defect" @@ -166748,6 +166756,7 @@ "GSD due to G6P deficiency type b" "Glycogenosis due to glucose-6-phosphatase deficiency type b" "GSD type 1b" + "blood serum centrosomal protein of 41 kDa amount" "legionnaire disease, susceptibility to" "hydrogen pyridine-2,3-dicarboxylate" "combined lung cancer" @@ -167691,13 +167700,13 @@ "GP Ia deficiency" "inherited bleeding disorder, platelet-type caused by mutation in ITGA2" "glycoprotein Ia deficiency" - "post operative delirium" "febrile seizures, familial caused by mutation in SCN1A" "generalized epilepsy with febrile seizures plus, type 2" "GEFS+, type 2" "SCN1A febrile seizures, familial" "Drosophila melangaster" "fruit fly" + "post operative delirium" "blood serum zinc finger protein 230 amount" "blood serum biogenesis of lysosome-related organelles complex 1 subunit 2 amount" "blood serum Phosphatidylethanolamine (18:1_0:0) amount" @@ -167951,12 +167960,12 @@ "Male sterility due to chromosome Y deletion" "myocyte" "muscle fiber" + "head tissue" + "epicranial plate" "Diabetic Ketoacidosis" "DIABETES MELLITUS, KETOSIS-PRONE" "ketosis-prone diabetes mellitus" "diabetic ketoacidosis" - "head tissue" - "epicranial plate" "blood serum low-density lipoprotein receptor-related protein 2 amount" "adult Fanconi's syndrome" "adult Fanconi syndrome" @@ -168247,8 +168256,8 @@ "embryonic in Arabidopsis" "embryo development stage" "blood serum tyrosyl-DNA phosphodiesterase 1 amount" - "ampulla of Vater adenosquamous carcinoma" "hepatopancreatic ampulla adenosquamous carcinoma" + "ampulla of Vater adenosquamous carcinoma" "NCI-H322" "H322T" "Agnosia" @@ -168729,15 +168738,15 @@ "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT" "blood serum syntenin-2 amount" "Hard-skin syndrome, Parana type" + "congenital nystagmus caused by mutation in FRMD7" + "FRMD7 congenital nystagmus" + "nystagmus 1, congenital, X-linked" "pronephric nephron" "anterior kidney" "archinephron" "embryonic kidney" "pronephron" "head kidney" - "congenital nystagmus caused by mutation in FRMD7" - "FRMD7 congenital nystagmus" - "nystagmus 1, congenital, X-linked" "astrocytoma of brain" "astrocytic tumor" "astroglioma" @@ -168831,8 +168840,8 @@ "Schindler disease, type III" "Schindler disease type 1" "NAGA deficiency type 1" - "Proximal tibial hypopolasia" "MRTTTC549" + "Proximal tibial hypopolasia" "Primrose syndrome" "intellectual disability-cataracts-calcified pinnae-myopathy syndrome" "SOD" @@ -168897,9 +168906,9 @@ "AD polycystic liver disease" "isolated polycystic liver disease" "blood serum titin amount" - "blood serum Ras-related protein Rab-3C amount" "salivary microbiome measurement" "oral microbiota measurement" + "blood serum Ras-related protein Rab-3C amount" "bone surface (peripheral) osteosarcoma" "surface osteosarcoma" "peripheral osteosarcoma" @@ -169390,6 +169399,7 @@ "blood serum polypeptide N-acetylgalactosaminyltransferase 11 amount" "blood serum lipocalin-1 amount" "blood serum carbonic anhydrase 5B, mitochondrial amount" + "SPOAN" "intellectual developmental disorder, autosomal recessive 57" "intellectual disability, autosomal recessive type 57" "autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7" @@ -169398,12 +169408,11 @@ "mental retardation, autosomal recessive type 57" "MBOAT7 autosomal recessive non-syndromic intellectual disability" "mental retardation, autosomal recessive 57" - "SPOAN" + "Digital RNA Sequencing" "oculocutaneous albinism, type VIII" "OCA8" "oculocutaneous albinism, type 8" "CD7-positive lymphoid precursor" - "Digital RNA Sequencing" "CD38- naive B-lymphocyte" "CD38-negative naive B-cell" "CD38- naive B cell" @@ -169711,6 +169720,7 @@ "Dry skin" "Xerosis" "4-[bis(2-chloroethyl)amino]-L-phenylalanine" + "shape of heart" "Ca ascending colon" "ascending colon cancer" "malignant neoplasm of ascending colon" @@ -170090,7 +170100,6 @@ "Degeneration of intervertebral disks" "Degenerative disk disease" "Degenerative disc disease" - "sodium" "neoplasm of Mast cells" "Mast cell tumour" "tumor of Mast cells" @@ -170103,6 +170112,7 @@ "neoplasm of the Mast cells" "tumour of the Mast cells" "mast cell tumour" + "sodium" "parakeratotic papilloma of skin" "parakeratotic skin papilloma" "squamous cell skin papilloma" @@ -170351,10 +170361,10 @@ "Stoll-Lévy-Francfort syndrome" "blood serum procollagen galactosyltransferase 2 amount" "Pseudofolliculitis barbae" + "Autosomal recessive early-onset IBD" "rhinoscleroma" "Rhinoscleroma" "Rhinoscleroma (disorder)" - "Autosomal recessive early-onset IBD" "bilateral frontoparietal polymicrogyria" "Abnormality of vitamin metabolism" "age frontotemporal dementia symptoms begin" @@ -170452,12 +170462,12 @@ "Alagille syndrome type 1" "Alagille syndrome due to a JAG1 point mutation" "syndromic bile duct paucity due to a JAG1 point mutation" - "pemphigus" "hereditary cerebral hemorrhage with amyloidosis, Piedmont type" "ABetaL34V-related amyloidosis" "hereditary cerebral haemorrhage with amyloidosis, Piedmont type" "ABeta amyloidosis, Piedmont type" "HCHWA, Piedmont type" + "pemphigus" "lead" "blood serum GMP reductase 2 amount" "tumour of diencephalon" @@ -170835,9 +170845,6 @@ "H-727" "Renal dysplasia - mesomelia - radiohumeral fusion" "Renal dysplasia - limb defects" - "organ system" - "connected anatomical system" - "body system" "small cell car. (extrapulmonary)" "small cell neuroendocrine carcinoma" "oat cell carcinoma" @@ -170846,6 +170853,9 @@ "small cell carcinoma (extrapulmonary)" "small cell carcinoma" "oat cell cancer" + "organ system" + "connected anatomical system" + "body system" "SLS" "Sjogren Larsson syndrome" "Sjogren-Larsson syndrome" @@ -170899,9 +170909,9 @@ "Heck's disease" "Heck disease" "Gunal-Seber-Basaran syndrome" - "blood serum bifunctional purine biosynthesis protein ATIC amount" "(17beta)-17-hydroxy-17-methylandrost-4-en-3-one" "Methyltestosterone" + "blood serum bifunctional purine biosynthesis protein ATIC amount" "partial duplication of chromosome 10p" "partial trisomy of chromosome 10p" "partial trisomy of the short arm of chromosome 10" @@ -171097,13 +171107,13 @@ "hyperlipidemia (disease)" "Abnormality of the toenails" "Abnormality of the toenail" + "response to Opdivo" "Occidental" "Caucasians" "White" "Whites" "European" "Caucasoid" - "response to Opdivo" "spinocerebellar ataxia 42" "SCA42" "spinocerebellar ataxia type 42" @@ -171279,12 +171289,12 @@ "blood serum oligodendrocyte-myelin glycoprotein amount" "blood serum insulin-like growth factor-binding protein 3 amount" "Jones syndrome" + "jejunal neuroendocrine neoplasm" "C9ORF72-related Huntington disease-like syndrome" "C9ORF72-related Huntington disease phenocopy" "C9ORF72-related Huntington's disease phenocopy" "Huntington's disease-like syndrome due to C9ORF72 expansions" "Huntington disease phenocopy due to C9ORF72 expansions" - "jejunal neuroendocrine neoplasm" "progressive diffuse palmoplantar keratoderma" "progressive diffuse PPK" "Greither disease" @@ -171343,11 +171353,11 @@ "hereditary renal cell carcinoma (disease)" "hereditary renal cell cancer" "Lewis lung carcinoma" + "PROM1-related recessive retinopathy" "Cortical Portion of the Kidney" "Cortical Portion of Kidney" "Cortical" "KIDNEY, CORTEX" - "PROM1-related recessive retinopathy" "blood ankyrin repeat domain-containing protein 54 amount" "classic multiminicore myopathy" "herxheimer disease" @@ -171680,8 +171690,8 @@ "MTC" "medullary thyroid carcinoma" "medullary carcinoma" - "GM17251 cell" "TAR syndrome" + "GM17251 cell" "5-C" "CMT2HH" "age colorectal cancer symptoms begin" @@ -171778,8 +171788,8 @@ "Impingement syndrome of shoulder region" "Subacromial impingement (disorder)" "Shoulder Impingement Syndrome" - "total RNA extract" "response to 4-(4-Hydroxyphenyl)-2-butanol" + "total RNA extract" "blood serum microfibrillar-associated protein 3-like amount" "NMZL" "nodal marginal zone B-cell lymphoma" @@ -172936,12 +172946,12 @@ "cervical polyp" "cervix uteri polyp" "adenomatous polyp of the cervix" - "RPGN" "acrokeratosis verruciformis of Hopf" "AKV of Hopf" "Acrokeratosis verruciformis of Hopf" "Hopf disease" "acrokeratosis verruciformis" + "RPGN" "recombination activating gene 2 deficiency" "V(D)J recombination-activating protein 2 deficiency" "RAG-2 deficiency" @@ -172990,9 +173000,9 @@ "decreased anxiety" "reduced anxiety" "blood serum G-protein coupled receptor 135 amount" + "blood serum PRA1 family protein 3 amount" "mitochondrial" "Mitochondrial" - "blood serum PRA1 family protein 3 amount" "blood serum Phosphatidylethanolamine (O-18:1_18:2) amount" "Pachycladon Hook.f." "phenyl hydrogen sulfate" @@ -173526,11 +173536,11 @@ "dysmorphic sialidosis with renal involvement" "type A intercalated cell" "type A-IC" - "SPG31" "MDA-MB-157" "MDAMB-157" "IDDEBF" "intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies" + "SPG31" "brachydactyly, Smorgasbord type" "Winged helix deficiency" "Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy" @@ -173571,13 +173581,8 @@ "idiopathic and/or familial pulmonary arterial hypertension" "pulmonary hypertension, primary, type 1" "IFPAH" - "blood serum tryptophan--tRNA ligase, mitochondrial amount" - "occlusion and stenosis of carotid artery" - "carotid artery segment occlusion precerebral artery" - "occlusion precerebral artery of carotid artery segment" "Monosomy 15q11.2" "Del(15)(q11.2)" - "U3118" "dental disorder" "calcareous tooth disease" "calcareous tooth disease or disorder" @@ -173587,6 +173592,11 @@ "disease or disorder of calcareous tooth" "dental disease" "disorder of calcareous tooth" + "blood serum tryptophan--tRNA ligase, mitochondrial amount" + "occlusion and stenosis of carotid artery" + "carotid artery segment occlusion precerebral artery" + "occlusion precerebral artery of carotid artery segment" + "U3118" "arthrocutaneouveal granulomatosis" "Blau syndrome" "paediatric granulomatous arthritis" @@ -173722,10 +173732,10 @@ "Ring chromosome type 1" "B-type natriuretic peptide measurement" "brain natriuretic peptide measurement" + "blood MHC class I histocompatibility antigen A alpha chain amount" "2-methoxy-4-(prop-2-en-1-yl)phenol" "Eugenol" "eugenol" - "blood MHC class I histocompatibility antigen A alpha chain amount" "blood mitogen-activated protein kinase kinase kinase kinase 5 amount" "arylsulfatase A deficiency, juvenile form" "metachromatic leukodystrophy, juvenile form" @@ -174258,8 +174268,8 @@ "Dyskeratosis congenita with bilateral exudative retinopathy" "Revesz-DeBuse syndrome" "Retinopathy-anemia-central nervous system anomalies syndrome" - "Short stature - facial and skeletal anomalies - intellectual disability - macrodontia" "blood serum histone-lysine N-methyltransferase ASH1L amount" + "Short stature - facial and skeletal anomalies - intellectual disability - macrodontia" "Spinal Cord Trauma" "SCI" "Traumatic Myelopathy" @@ -175074,11 +175084,11 @@ "mammalian vulva eccrine carcinoma" "vulvar eccrine adenocarcinoma" "eccrine carcinoma of mammalian vulva" - "protein adhesion measurement" "Oxyhemoglobin/Total Hemoglobin" "HBOXHGB" "blood serum interleukin-28 receptor alpha chain amount" "Granular corneal dystrophy type II" + "protein adhesion measurement" "junctional epidermolysis bullosa" "epidermolysis bullosa atrophicans" "JEB" @@ -175099,12 +175109,6 @@ "cystic, mucinous, and serous neoplasm" "blood a disintegrin and metalloproteinase with thrombospondin motifs 8 amount" "FGF23 measurement" - "spindle cell melanoma of the uvea" - "spindle cell uveal melanoma" - "uveal spindle cell melanoma" - "spindle cell melanoma of uvea" - "corneal dystrophy, endothelial, X-linked, X-linked dominant" - "XECD" "Vivax Malaria" "Plasmodium vivax malaria" "vivax malaria" @@ -175113,6 +175117,12 @@ "malaria by Plasmodium vivax" "Malaria, Vivax" "Vivax malaria [benign tertian]" + "spindle cell melanoma of the uvea" + "spindle cell uveal melanoma" + "uveal spindle cell melanoma" + "spindle cell melanoma of uvea" + "corneal dystrophy, endothelial, X-linked, X-linked dominant" + "XECD" "blood serum ezrin amount" "blood serum glycolipid transfer protein domain-containing protein 2 amount" "incomplete bilateral aplasia of the Müllerian ducts" @@ -175535,8 +175545,6 @@ "Hers disease" "Hepatic phosphorylase deficiency" "GSD type 6B" - "mother's milk" - "breast milk" "schwannoma of fifth cranial nerve" "neurilemmoma of fifth cranial nerve" "neurilemmoma of the trigeminal nerve" @@ -175550,6 +175558,8 @@ "fifth cranial nerve schwannoma" "trigeminal schwannoma" "neurilemmoma of the fifth cranial nerve" + "mother's milk" + "breast milk" "blood serum xylulose kinase amount" "blood serum son of sevenless homolog 1 amount" "throat or larynx disorder" @@ -175738,12 +175748,12 @@ "autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation" "SPG11 Charcot-Marie-Tooth disease" "CMT2X" + "partial duplication of chromosome type 19" + "partial trisomy of chromosome 19" "Monosomy 21q22.13q22.2" "Monosomy 21q22.13-q22.2" "Del(21)(q22.13q22.2)" "21q22.13-q22.2 microdeletion syndrome" - "partial duplication of chromosome type 19" - "partial trisomy of chromosome 19" "malignant glans penis neoplasm" "glans penis cancer" "malignant tumor of glans penis" @@ -175794,12 +175804,6 @@ "Treponema orthodontum" "Spirochaete dentium" "Spirochaeta comandonii" - "DDEB, generalized" - "epidermolysis bullosa dystrophica, AD" - "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types" - "DDEB-gen" - "DDEB, generalised" - "DDEB, Pasini and Cockayne-Touraine types" "sellar tumor" "tumour of the sella turcica" "sellar neoplasm" @@ -175812,6 +175816,12 @@ "tumor of the sella turcica" "neoplasm of sella turcica" "sella turcica neoplasm" + "DDEB, generalized" + "epidermolysis bullosa dystrophica, AD" + "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types" + "DDEB-gen" + "DDEB, generalised" + "DDEB, Pasini and Cockayne-Touraine types" "disorder of eosinophil" "disease of eosinophil" "eosinophil disease or disorder" @@ -175906,8 +175916,8 @@ "malignant teratoma of the testis" "immature teratoma of testis" "testicular immature teratoma" - "immature testicular teratoma" "immature teratoma of the testis" + "immature testicular teratoma" "malignant testicular teratoma" "Lactobacillus curvatus (Troili-Petersson 1903) Abo-Elnaga and Kandler 1965 (Approved Lists 1980) eme" "Bacterium curvatum" @@ -175922,6 +175932,14 @@ "Arthritic Psoriasis" "RHYNS syndrome" "retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome" + "monosomy 3q26-q27" + "monosomy 3q26q27" + "3q26-q27microdeletion syndrome" + "Del(3)(q26q27)" + "purine nucleoside triphosphate anabolism" + "purine nucleoside triphosphate biosynthesis" + "purine nucleoside triphosphate synthesis" + "purine nucleoside triphosphate formation" "Haemophilus agni" "Haemophilus agni" "Haemophilus somnus" @@ -175935,14 +175953,6 @@ "Histophilus somni Angen et al. 2003" "Haemophilus somnifer" "Haemophilus somnifer" - "monosomy 3q26-q27" - "monosomy 3q26q27" - "3q26-q27microdeletion syndrome" - "Del(3)(q26q27)" - "purine nucleoside triphosphate anabolism" - "purine nucleoside triphosphate biosynthesis" - "purine nucleoside triphosphate synthesis" - "purine nucleoside triphosphate formation" "neuromast otic" "neuromasts otic" "Cid due to DOCK8 deficiency" @@ -176164,8 +176174,8 @@ "Triticum turgidum var. dicoccoides" "Triticum turgidum subsp. dicoccoides" "wild emmer wheat" - "blood serum thioredoxin-like protein 4A amount" "blood serum cysteine-rich PDZ-binding protein amount" + "blood serum thioredoxin-like protein 4A amount" "5-acetamido-3,5-dideoxy-D-galacto-non-2-ulopyranosonate" "N-acetylneuraminate" "Pierquin syndrome" @@ -176352,14 +176362,14 @@ "ventral pharyngeal arch 2 skeleton" "ventral hyoid arch" "ventral visceral arch 2" + "blood serum interleukin-31 receptor A amount" "3-carboxy-2,3-dideoxypentaric acid" "1-hydroxypropane-1,2,3-tricarboxylic acid" "Isocitric acid" "spinocerebellar ataxia type 12" "SCA12" - "blood serum interleukin-31 receptor A amount" - "blood serum methylated-DNA--protein-cysteine methyltransferase amount" "atypical HCS" + "blood serum methylated-DNA--protein-cysteine methyltransferase amount" "Medrano-Roldan syndrome" "Capsularis" "Ristella" @@ -176855,13 +176865,13 @@ "purine ribonucleoside triphosphate formation" "purine ribonucleoside triphosphate anabolism" "blood serum chondroitin sulfate proteoglycan 4 amount" - "broad uterine ligament" "basophilic pituitary gland adenoma" "pituitary gland basophilic adenoma" "pituitary basophilic adenoma" "mucoid cell adenoma" "pituitary gland basophil adenoma" "basophilic adenoma" + "broad uterine ligament" "Single central incisor" "Single midline maxillary incisor" "Single central upper incisor" @@ -177207,11 +177217,6 @@ "Involuntary rhythmic muscular contractions and relaxations" "Accumulation of fluid in the abdomen" "Peritoneal effusion" - "juvenile rheumatoid factor-negative polyarthritis" - "rheumatoid factor-negative JIA" - "rheumatoid factor-negative juvenile idiopathic arthritis" - "rheumatoid factor negative juvenile idiopathic arthritis" - "polyarthritis without rheumatoid factor" "immature malignant teratoma of mediastinum" "immature malignant teratoma of the mediastinum" "mediastinum malignant teratoma" @@ -177219,6 +177224,11 @@ "malignant teratoma of the mediastinum" "malignant mediastinal teratoma" "blood serum histone deacetylase 2 amount" + "juvenile rheumatoid factor-negative polyarthritis" + "rheumatoid factor-negative JIA" + "rheumatoid factor-negative juvenile idiopathic arthritis" + "rheumatoid factor negative juvenile idiopathic arthritis" + "polyarthritis without rheumatoid factor" "blood serum lysine-specific demethylase 4C amount" "Osteonecrosis" "Ischemic bone necrosis" @@ -177365,8 +177375,8 @@ "7,8,8a,9a-tetrahydrobenzo[1,12]tetrapheno[10,11-b]oxirene-7,8-diol" "7,8,8a,9a-tetrahydrobenzo[10,11]chryseno[3,4-b]oxirene-7,8-diol" "blood collagen triple helix repeat-containing protein 1 amount" - "AG09877 cell" "CE 20:3" + "AG09877 cell" "Cerebellar vermal hypoplasia" "Hypoplastic cerebellar vermis" "Hypoplasia of the cerebellar vermis" @@ -177688,15 +177698,15 @@ "Phimosis (disorder) [Ambiguous]" "phimosis" "Tight frenulum" - "pulmonary lymphangioleiomyomatosis" - "lung lymphangiomyomatosis" - "lung lymphangioleiomyomatosis" "Pallister ulnar-mammary syndrome" "Schinzel Syndrome" "UMS" "ulnar-mammary syndrome" "Schinzel syndrome" "ums" + "pulmonary lymphangioleiomyomatosis" + "lung lymphangiomyomatosis" + "lung lymphangioleiomyomatosis" "mandibuloacral dysplasia with type B lipodystrophy" "blood serum protein naked cuticle homolog 2 amount" "blood serum DnaJ homolog subfamily C member 10 amount" @@ -178322,8 +178332,6 @@ "blood dynamin-3 amount" "blood serum integrin alpha-L amount" "blood serum large ribosomal subunit protein bL28m amount" - "Waaler-Aarskog syndrome" - "Ferlini-Ragno-Calzolari syndrome" "Microbe de la coqueluche" "Bacterium tussis-convulsivae" "Hemophilus pertussis" @@ -178340,6 +178348,8 @@ "GD III" "Gaucher disease type III" "Gaucher disease, juvenile and adult, cerebral" + "Waaler-Aarskog syndrome" + "Ferlini-Ragno-Calzolari syndrome" "blood serum dedicator of cytokinesis protein 2 amount" "particular wear debris osteolysis" "demyelinating HMSN" @@ -178359,14 +178369,14 @@ "glycogenosis type VIII" "hepatic glycogen phosphorylase kinase deficiency (disorder)" "Glycogen Storage Disease Type VIII" - "HOXD13 brachydactyly type E" - "brachydactyly type E caused by mutation in HOXD13" - "BDE1" "Aldred syndrome" "retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion" "chromosome xp11.3 deletion syndrome, X-linked recessive" "retinitis pigmentosa and intellectual disability due to del(X)(p11.3)" "retinitis pigmentosa and intellectual disability due to monosomy Xp11.3" + "HOXD13 brachydactyly type E" + "brachydactyly type E caused by mutation in HOXD13" + "BDE1" "Partial monosomy of the long arm of chromosome 18" "Partial monosomy of chromosome 18q" "Partial deletion of chromosome 18q" @@ -178696,9 +178706,6 @@ "Structural abnormality of the chest wall" "Abnormality of the chest" "Abnormality of the thorax" - "blood serum tectonic-2 amount" - "Populus tremula L." - "European aspen" "carcinoma of the adrenal cortex" "malignant adrenocortical tumor" "adrenal cortical adenocarcinoma" @@ -178720,6 +178727,9 @@ "cancer of the adrenal cortex" "adrenal cortical carcinoma (morphologic abnormality)" "adenocarcinoma, adrenocortical, malignant" + "blood serum tectonic-2 amount" + "Populus tremula L." + "European aspen" "spinal cord meningioma (disease)" "meningioma of spinal cord" "spinal cord meningioma" @@ -178943,9 +178953,6 @@ "Helicobacter Infections" "Helicobacter Pylori Infection" "Helicobacter pylori infectious disease" - "kidney inflammation" - "nephritis" - "inflammation of kidney" "focal epilepsy-intellectual disability-dysarthria-ataxia syndrome" "Sphingomonas wittichii strain RW1" "Sphingomonas wittichii DSM 6014" @@ -178953,9 +178960,9 @@ "Sphingomonas sp. RW1" "Degos genodermatosis \"en cocardes\"" "Degos genodermatosis" - "familial hypoalphalipoproteinemia" - "familial apoA-I deficiency" - "ApoA-I deficiency" + "kidney inflammation" + "nephritis" + "inflammation of kidney" "dSMA4" "autosomal recessive distal spinal muscular atrophy type 4" "DSMA4" @@ -178963,6 +178970,9 @@ "autosomal recessive lower motor neuron disease with childhood onset" "neuronopathy, distal hereditary motor, autosomal recessive 4" "spinal muscular atrophy, distal, autosomal recessive, type 4" + "familial hypoalphalipoproteinemia" + "familial apoA-I deficiency" + "ApoA-I deficiency" "Farabee type brachydactyly" "BDA1" "brachydactyly, Farabee type" @@ -179016,10 +179026,12 @@ "pancreas benign neoplasm" "benign pancreas neoplasm" "benign pancreas tumour" - "pancreas neoplasm, benign" "benign tumor of the pancreas" + "pancreas neoplasm, benign" "benign tumour of the pancreas" "blood serum 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9 amount" + "Mucopolysaccharidosis type 9" + "Mucopolysaccharidosis type IX" "hereditary pheochromocytoma-paraganglioma" "familial pheochromocytoma-paraganglioma" "Intestinum crassum caecum" @@ -179050,8 +179062,6 @@ "vermiform appendix carcinoid tumor" "appendix neuroendocrine tumour G1 (carcinoid)" "previtillogenic ovarian follicle" - "Mucopolysaccharidosis type 9" - "Mucopolysaccharidosis type IX" "Kif-5" "fallopian tube serous cystadenofibroma" "fallopian tube cystadenofibroma" @@ -179126,8 +179136,8 @@ "Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome" "carcinoma, sweat gland, malignant" "sweat gland carcinoma" - "carcinoma of sweat gland" "carcinoma of the sweat gland" + "carcinoma of sweat gland" "GM17278 cell" "ethyl (3R,4R,5S)-4-acetamido-5-amino-3-(pentan-3-yloxy)cyclohex-1-ene-1-carboxylate" "Oseltamivir" @@ -179282,11 +179292,6 @@ "antrum of stomach" "extroversion" "extraversion (psychology)" - "orbital region rhabdomyosarcoma (disease)" - "rhabdomyosarcoma of the orbit" - "rhabdomyosarcoma of orbit" - "rhabdomyosarcoma (disease) of orbital region" - "orbital region rhabdomyosarcoma" "peeling skin syndrome type B" "generalized peeling skin syndrome type B" "generalised peeling skin syndrome type B" @@ -179297,6 +179302,11 @@ "generalized deciduous skin type B" "PSS type B" "inflammatory peeling skin syndrome" + "orbital region rhabdomyosarcoma (disease)" + "rhabdomyosarcoma of the orbit" + "rhabdomyosarcoma of orbit" + "rhabdomyosarcoma (disease) of orbital region" + "orbital region rhabdomyosarcoma" "Balsas teosinte" "Zea mays parviglumis" "teosinte" @@ -180088,8 +180098,8 @@ "hypodysfibrinogenemia" "dysfibrinogenemia" "(2R)-3-[(9Z)-hexadec-9-enoyloxy]-2-[(9Z,12Z)-octadeca-9,12-dienoyloxy]propyl 2-(trimethylammonio)ethyl phosphate" - "biosource provider" "blood signal transducer and activator of transcription 2 amount" + "biosource provider" "Virchow-Robin space" "perivascular region" "HLRCC" @@ -180489,8 +180499,8 @@ "gastric cardia carcinoma in situ" "stage 0 gastric cardia carcinoma" "carcinoma in situ of the gastric cardia" - "gastric cardia carcinoma in situ aJCC v6 and v7" "carcinoma in situ of cardia of stomach" + "gastric cardia carcinoma in situ aJCC v6 and v7" "cardia of stomach in situ carcinoma" "carcinoma in situ of the cardia of the stomach" "blood serum annexin A8 amount" @@ -181457,12 +181467,12 @@ "SCA28" "spinocerebellar ataxia type 28" "anaphylactoid reaction" + "blood serum Wee1-like protein kinase 2 amount" "Charcot spinal arthropathy" "Spinal neuroarthropathy" "Spinal deformities" "Short penis" "Small penis" - "blood serum Wee1-like protein kinase 2 amount" "Polyomavirus nephropathy" "polyomavirus associated nephropathy" "kidney disease caused by BK polyomavirus" @@ -181834,20 +181844,20 @@ "Bartholin's gland" "Bartholin gland" "vulvovaginal gland" - "combined oxidative phosphorylation defiency 46" "HSAN with deafness and global delay" + "combined oxidative phosphorylation defiency 46" "corneal stroma" "stroma of cornea" "substantia propria corneae" "blood fatty acid-binding protein, intestinal amount" "radio-ulnar fusion, unilateral" "EBS2D" - "Smith-Kingsmore syndrome" - "MINDS syndrome" "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability" "spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome" "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation" "blood testis-expressed protein 101 amount" + "Smith-Kingsmore syndrome" + "MINDS syndrome" "renal cell adenoma" "adenoma, renal cell, benign" "renal cell adenoma (morphologic abnormality)" @@ -182001,12 +182011,12 @@ "oral submucous fibrosis" "oral submucosal fibrosis, including of tongue" "OSMF" - "Lipodystrophy - Rieger anomaly - diabetes" - "Rieger anomaly - partial lipodystrophy" - "Aarskog-Ose-Pande syndrome" "cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome" "Holzgreve Wagner Rehder syndrome" "Holzgreve syndrome" + "Lipodystrophy - Rieger anomaly - diabetes" + "Rieger anomaly - partial lipodystrophy" + "Aarskog-Ose-Pande syndrome" "Charcot-Marie-Tooth disease type 4 caused by mutation in HK1" "HK1 Charcot-Marie-Tooth disease type 4" "hereditary motor and sensory neuropathy Russe type" @@ -182100,11 +182110,11 @@ "METHANOL" "Methanol" "methanol" + "Anatomical Therapeutic Chemical Classification System" "BDPLT19" "PRKACG isolated hereditary giant platelet disorder" "severe autosomal recessive macrothrombocytopenia" "isolated hereditary giant platelet disorder caused by mutation in PRKACG" - "Anatomical Therapeutic Chemical Classification System" "melanocytic tumor of the central nervous system" "melanocytic tumor of central nervous system" "melanocytic neoplasm of CNS" @@ -182937,19 +182947,19 @@ "8-methoxy-6-nitro-2H-phenanthro[3,4-d][1,3]dioxole-5-carboxylic acid" "blood serum retina-specific copper amine oxidase amount" "Ladda-Zonana-Ramer syndrome" + "vascular brain injury" "C-beta-thalassemia" "HBC-beta-thalassemia syndrome" "Zaire Ebola virus" "ZEBOV" - "vascular brain injury" "combined defect in adenosylcobalamin and methylcobalamin synthesis" "methylmalonic aciduria with homocystinuria" "Gerlach's tubal tonsil" "eustachian amygdala" "auditory tube lymph gland" "Gerlach's tonsil" - "blood serum ubiquitin carboxyl-terminal hydrolase 11 amount" "gestation" + "blood serum ubiquitin carboxyl-terminal hydrolase 11 amount" "Caco2" "corticosterone methyloxidase deficiency type I" "aldosterone synthase deficiency" @@ -183216,8 +183226,8 @@ "Detection of PAS-positive extracellular material in broncho-alveolar lavage" "Pulmonary alveolar proteinosis" "Alveolar proteinosis" - "46,XY DSD due to testicular steroidogenesis defect" "blood serum Golgi SNAP receptor complex member 1 amount" + "46,XY DSD due to testicular steroidogenesis defect" "mucopolysaccharide metabolism" "CMTX" "basaloid carcinoma" @@ -183589,9 +183599,9 @@ "GUANINE" "2-amino-1,9-dihydro-6H-purin-6-one" "CDG with nephropathy as a major feature" - "recessive GUCY2D retinopathy" "injury of spinal cord" "spinal cord injury" + "recessive GUCY2D retinopathy" "blood serum amino acid transporter heavy chain SLC3A1 amount" "diencephalic neural crest" "GM17121 cell" @@ -183789,8 +183799,8 @@ "malignant adrenocorticotropin secreting pituitary tumour" "malignant adrenocorticotropin producing tumor of pituitary gland" "malignant Corticotropinoma of pituitary gland" - "fibrinogen levels" "Left and right leg differ in length or width" + "fibrinogen levels" "endocrine organ" "hearing impairment and infertile male syndrome" "HIIMS" @@ -184964,15 +184974,15 @@ "Inverted smile - neurogenic bladder" "Urofacial syndrome" "Hydronephrosis - inverted smile" - "carcinoma of the extrahepatic bile duct" - "extrahepatic bile duct cancer" - "carcinoma of extrahepatic bile duct" - "extrahepatic bile duct carcinoma" "severe combined immunodeficiency (disease)" "severe combined immunodeficiency disease" "combined T and B cell inborn immunodeficiency" "SCID" "severe combined immunodeficiency" + "carcinoma of the extrahepatic bile duct" + "extrahepatic bile duct cancer" + "carcinoma of extrahepatic bile duct" + "extrahepatic bile duct carcinoma" "tunica mucosa uteri" "uterine endometrium" "tunica mucosa (endometrium)" @@ -185834,13 +185844,13 @@ "tumour of the anus" "Neoplasm, Anus" "blood serum myosin-binding protein H amount" - "McPherson-Hall syndrome" "gallbladder adenosquamous carcinoma" "adenosquamous carcinoma of gallbladder" "adenosquamous carcinoma of the gallbladder" "adenosquamous gallbladder carcinoma" "gallbladder adenosquamous cancer" "gall bladder adenosquamous carcinoma" + "McPherson-Hall syndrome" "hepatopancreatic ampulla clear cell adenocarcinoma" "ampulla of Vater clear cell adenocarcinoma" "blood serum deformed epidermal autoregulatory factor 1 amount" @@ -185919,9 +185929,9 @@ "blood serum neuron-specific vesicular protein calcyon amount" "bile duct intrahepatic part" "10X 3' v3" + "blood serum origin recognition complex subunit 6 amount" "embryo Ce" "Caenorhabditis elegans embryo stage" - "blood serum origin recognition complex subunit 6 amount" "blood serum interleukin-1 receptor-like 1 amount" "fibroepithelial tumour" "fibroepithelial tumor" @@ -186137,7 +186147,6 @@ "tunica muscularis (myometrium)" "nonsyndromic agammaglobulinemia" "isolated hypogammaglobulinemia" - "(12Z)-9,10-dihydroxyoctadec-12-enoic acid" "Posterior uveitis (disorder)" "posterior uveitis" "Posterior uveitis NOS (disorder)" @@ -186148,6 +186157,7 @@ "uveitis, posterior" "chorioretinal region inflammation" "Posterior uveitis" + "(12Z)-9,10-dihydroxyoctadec-12-enoic acid" "Shprintzen-Goldberg syndrome" "Marfanoid craniosynostosis syndrome" "SGS" @@ -186771,8 +186781,8 @@ "malignant eccrine tumour" "malignant eccrine neoplasm of the skin" "malignant neoplasm of eccrine sweat gland" - "malignant eccrine tumour of skin" "eccrine sweat gland cancer" + "malignant eccrine tumour of skin" "cancer of eccrine sweat gland" "malignant eccrine tumor of the skin" "malignant eccrine skin tumour" @@ -186780,8 +186790,8 @@ "malignant eccrine sweat gland neoplasm" "malignant eccrine tumour of the skin" "malignant eccrine tumor" - "malignant eccrine neoplasm" "malignant eccrine skin tumor" + "malignant eccrine neoplasm" "NK cell" "ageing" "blood serum ubiquitin carboxyl-terminal hydrolase 15 amount" @@ -187331,17 +187341,17 @@ "Th9" "T(H)-9 cell" "T helper cells type 9" - "blood serum derlin-1 amount" "vitamin A deficiency (disease)" "vitamin A deficiency" "Vitamin A Deficiency" - "CAL-51" - "blood serum ELAV-like protein 2 amount" + "blood serum derlin-1 amount" "cardiac rhabdomyoma (disease)" "heart rhabdomyoma" "rhabdomyoma of heart" "rhabdomyoma of the heart" "cardiac rhabdomyoma" + "CAL-51" + "blood serum ELAV-like protein 2 amount" "autosomal dominant intermediate Charcot-Marie-Tooth disease type C" "DI-CMTC" "YARS Charcot-Marie-Tooth disease" @@ -187698,10 +187708,10 @@ "portion of blood plasma" "blood plasm" "blood N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 amount" + "TAG 50:3" "typhasterol" "(3alpha,5alpha,22R,23R,24S)-3,22,23-trihydroxyergostan-6-one" "SM 22:1" - "TAG 50:3" "GM17107 cell" "uterine smooth muscle" "Human Herpes Virus 8 Infection" @@ -187750,16 +187760,16 @@ "malignant tumor of uterine endocervix" "malignant endocervical tumor" "macrodactyly of hand" - "fetus/embryo hypoxia" - "embryo/fetus hyposia" - "intrauterine hypoxia" - "embryo hypoxia" "blood serum nuclear protein MDM1 amount" "cardiomyopathy, dilated, type 1Hh" "BAG3 familial isolated dilated cardiomyopathy" "CMD1HH" "familial isolated dilated cardiomyopathy caused by mutation in BAG3" "dilated cardiomyopathy type 1HH" + "fetus/embryo hypoxia" + "embryo/fetus hyposia" + "intrauterine hypoxia" + "embryo hypoxia" "age systemic lupus erythematosus symptoms begin" "age at onset of systemic lupus erythematosus" "blood serum protocadherin beta-10 amount" @@ -187847,14 +187857,14 @@ "SPGF52" "blood serum signal transducer and activator of transcription 5a amount" "blood serum engulfment and cell motility protein 2 amount" - "corneal endothelial cell" "carbamazepine-induced hyponatraemia" "carbamazepine induced hyponatremia" "carbamazepine induced hyponatraemia" - "attenuated hypophosphatasia" + "corneal endothelial cell" "Monosomy 6q16" "Prader-Willi-like syndrome due to deletion 6q16" "Del(6)(q16)" + "attenuated hypophosphatasia" "blood AP-3 complex subunit beta-1 amount" "distal arthrogryposis type 5 without ophthalmoplegia" "distal arthrogryposis caused by mutation in ECEL1" @@ -187977,7 +187987,6 @@ "duct of salivary gland carcinoma" "high grade salivary duct carcinoma" "carcinoma of duct of salivary gland" - "snRNA-seq" "autosomal recessive spinocerebellar ataxia type 12" "SCAR12" "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX" @@ -187999,6 +188008,7 @@ "Implantation, Heart Valve Prosthesis" "Heart Valve Prostheses" "Valve Prostheses, Cardiac" + "snRNA-seq" "GDAP1 Charcot-Marie-Tooth disease type 4" "Charcot-Marie-Tooth neuropathy type 4A" "Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1" @@ -188290,8 +188300,8 @@ "pseudohypoaldosteronism type 2 caused by mutation in KLHL3" "PHA2D" "KLHL3 pseudohypoaldosteronism type 2" - "r3" "pseduo-bulk scATAC-seq data" + "r3" "Developmental dysplasia of the hip" "Congenital hip dysplasia" "DDH" @@ -188317,8 +188327,8 @@ "ventricular ectopic beats" "response to irinotecan trait" "blood serum GTP cyclohydrolase 1 amount" - "blood serum mediator of RNA polymerase II transcription subunit 28 amount" "cone dystrophy" + "blood serum mediator of RNA polymerase II transcription subunit 28 amount" "greasy grouper" "Epinephelus tauvina (Forsskal, 1775)" "lipoid histiocytosis (kerasin type)" @@ -188335,8 +188345,8 @@ "(9Z)-tetradec-9-enoate" "Mosaic trisomy type 20" "Mosaic trisomy chromosome 20" - "Allergy" "OVK18" + "Allergy" "tryptophan" "Tryptophan" "Carotid artery thrombosis" @@ -188743,11 +188753,11 @@ "pediatric immature ovarian teratoma" "Burkholderia cepacia genomovar II" "neurofibromatosis type 2" - "BL-1" "vitreous detachment" "detachment Of vitreous" "vitreous, detachment Of" "Vitreous Detachment" + "BL-1" "MED" "blood serum sorcin amount" "glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome" @@ -188822,11 +188832,11 @@ "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency" "MSMD due to complete IFNgammaR2 deficiency" "MSMD due to complete interferon gamma receptor 2 deficiency" + "blood serum pleckstrin homology domain-containing family A member 3 amount" "Blood/Injury Phobia" "blood-injury phobia" "blood phobia" "Blood-injection-injury type phobia" - "blood serum pleckstrin homology domain-containing family A member 3 amount" "Dehalococcoides ethenogenes strain 195" "Dehalococcoides ethenogenes str. 195" "cerebral thrombosis" @@ -188925,9 +188935,6 @@ "self-improving congenital ichthyosis" "SICI" "MPO-DNA complex" - "PBD-ZSS" - "PBD-ZSD" - "PBD-Zellweger spectrum disorder" "Bed nucleus of stria terminalis" "Nucleus of stria terminalis" "Nuclei of stria terminalis" @@ -188936,6 +188943,9 @@ "hereditary sensory and autonomic neuropathy type I" "Hereditary Sensory Neuropathy Type I" "HSAN1" + "PBD-ZSS" + "PBD-ZSD" + "PBD-Zellweger spectrum disorder" "iatrogenic Kaposi sarcoma" "iatrogenic Kaposi's sarcoma" "partial monosomy of the long arm of chromosome 2" @@ -188989,10 +188999,10 @@ "face" "Fanconi Anemia, complementation group type E" "FANCE" + "N-(furan-2-ylcarbonyl)glycine" "mesomelic dysplasia, Reardon type" "Reardon-Hall-Slaney syndrome" "mesomelic dysplasia, Kozlowski-Reardon type" - "N-(furan-2-ylcarbonyl)glycine" "familial recurrent polyneuropathy" "neuropathy, recurrent, with pressure palsies" "current pressure-sensitive neuropathy" @@ -189601,11 +189611,6 @@ "CoQ10 deficiency" "coenzyme Q10 deficiency disease" "coenzyme Q10 deficiency, primary" - "cancer of anal canal" - "anal canal cancer" - "malignant anal canal neoplasm" - "malignant neoplasm of anal canal" - "mandibulofacial dysostosis with mental deficiency" "causalgia" "Complex regional pain syndrome, type II" "Causalgia (disorder)" @@ -189615,6 +189620,11 @@ "CRPS II" "Complex regional pain syndrome II" "complex regional pain syndrome type 2" + "cancer of anal canal" + "anal canal cancer" + "malignant anal canal neoplasm" + "malignant neoplasm of anal canal" + "mandibulofacial dysostosis with mental deficiency" "rhabdomyosarcoma (disease) of ovary" "ovary rhabdomyosarcoma (disease)" "rhabdomyosarcoma of the ovary" @@ -189767,13 +189777,13 @@ "Vestibular neurinoma" "Vestibular Schwann cell tumor" "Vestibular Schwann cell tumour" - "Poikiloderma of Rothmund-Thomson type 1" - "RTS1" "epencephalon-1" "MPSVI, slowly progressing" "MPS6, slowly progressing" "mucopolysaccharidosis type VI, slowly progressing" "arylsulfatase B deficiency, slowly progressing" + "Poikiloderma of Rothmund-Thomson type 1" + "RTS1" "adenomatous polyp of colon" "adenomatous colonic polyposis" "multiple colonic adenomatous polyps" @@ -190102,6 +190112,12 @@ "long QT syndrome caused by mutation in KCNJ5" "long QT syndrome 13" "long QT syndrome type 13" + "hereditary motor and sensory neuropathy VIA" + "MFN2 hereditary motor and sensory neuropathy type 6" + "Charcot-Marie-Tooth disease, type 6A" + "neuropathy, hereditary motor and sensory, type VIA" + "HMSN6A" + "hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2" "non-dysgerminomatous germ cell tumour of testis" "testicular germ cell tumour non-seminomatous" "testicular non-dysgerminomatous germ cell tumour" @@ -190113,21 +190129,12 @@ "testicular non seminomatous germ cell tumour" "testicular non-seminomatous germ cell tumor" "testicular non seminomatous germ cell tumor" - "hereditary motor and sensory neuropathy VIA" - "MFN2 hereditary motor and sensory neuropathy type 6" - "Charcot-Marie-Tooth disease, type 6A" - "neuropathy, hereditary motor and sensory, type VIA" - "HMSN6A" - "hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2" "FTH1-associated iron overload" "FTH1 hereditary hemochromatosis" "HFE5" "FTH1-related iron overload" "hereditary hemochromatosis caused by mutation in FTH1" "blood serum pleckstrin homology domain-containing family A member 4 amount" - "Osteopaenia" - "Generalised osteopenia" - "Generalized osteopenia" "cancerophobia" "fear of getting cancer" "fear of getting cancer (finding)" @@ -190135,6 +190142,9 @@ "cancerphobia" "cancer phobia" "Cancerphobia" + "Osteopaenia" + "Generalised osteopenia" + "Generalized osteopenia" "Trichomonas prostatitis" "trichomonal prostatitis" "Trichomonas vaginalis caused prostatitis (disease)" @@ -190675,10 +190685,10 @@ "Oligophrenin-1 syndrome" "OPHN1 syndrome" "mesenchyme pectoral fins" + "blood serum cytokine SCM-1 beta amount" "nonalcoholic fatty liver" "NAFL" "non alcoholic fatty liver" - "blood serum cytokine SCM-1 beta amount" "carcinoma in situ of the pharynx" "pharyngeal cancer stage 0" "stage 0 pharynx carcinoma" @@ -190854,15 +190864,15 @@ "Chediak-Higashi syndrome" "Chédiak-Higashi-Steinbrink syndrome" "blood serum cathepsin O amount" - "Myopathy, Central Core" - "central core myopathy" - "central core disease (disorder)" - "central core disease" "(SP-4-2)-diamminedichloridoplatinum" "Cisplatin" "(SP-4-2)-diamminedichloroplatinum" "cis-diamminedichloridoplatinum(II)" "cis-diamminedichloroplatinum(II)" + "Myopathy, Central Core" + "central core myopathy" + "central core disease (disorder)" + "central core disease" "Syndrome with 46,XX DSD" "3-hydroxydodecanoate" "subdural intracranial hematoma" @@ -190983,10 +190993,10 @@ "mental retardation and distinctive Facial features with or without Cardiac defects" "blood CCAAT/enhancer-binding protein alpha amount" "blood serum Phosphatidylcholine (18:0_20:3) amount" - "blood serum Tax1-binding protein 1 amount" "CMT due to MARS mutation" - "1H-imidazol-3-ium" + "blood serum Tax1-binding protein 1 amount" "CAHMR syndrome" + "1H-imidazol-3-ium" "blood serum Arf-GAP domain and FG repeat-containing protein 1 amount" "HR hypotrichosis" "Marie Unna congenital hypotrichosis" @@ -191377,8 +191387,8 @@ "benign neoplasm of the sebaceous gland" "benign sebaceous skin tumor" "benign tumor of the sebaceous gland" - "benign sebaceous tumor" "benign tumour of sebaceous gland" + "benign sebaceous tumor" "benign sebaceous skin tumour" "benign sebaceous neoplasm" "sebaceous gland benign neoplasm" @@ -191414,12 +191424,12 @@ "scc of the floor of mouth" "mouth floor squamous cell carcinoma" "floor of mouth squamous cell carcinoma" + "ocular primordium" "occular primordium" "optic primordium" "optic placode of camera-type eye" "eye placode" "optic placode" - "ocular primordium" "Very Low Birth Weight" "Infant, Very Low Birth Weight" "Infants, Very-Low-Birth-Weight" @@ -191799,13 +191809,13 @@ "AI2A4" "ODAPH amelogenesis imperfecta" "Schofer-Beetz-Bohl syndrome" + "TAG 44:1" "MYPN dilated cardiomyopathy" "dilated cardiomyopathy caused by mutation in MYPN" "CMD1KK" "dilated cardiomyopathy type 1KK" "cardiomyopathy, dilated, type 1Kk" "cardiomyopathy, hypertrophic, 22" - "TAG 44:1" "Festuca elatior" "Schedonorus phoenix" "tall fescue" @@ -192052,8 +192062,8 @@ "Neurolipocytoma" "Neurocytoma" "Harder, denser, fracture-prone bones" - "Familial doughnut lesions of skull" "Isolated Noncompaction of the Ventricular Myocardium" + "Familial doughnut lesions of skull" "blood serum protein-tyrosine sulfotransferase 2 amount" "complex neurodevelopmental disorder" "proximal part of limb" @@ -192268,11 +192278,11 @@ "Trichoderma virens" "Gliocladium virens" "blood serum gem-associated protein 7 amount" - "Anomalie syndromique du développement des yeux" "Methanobrevibacter smithii PS" "Methanobrevibacter smithii strain ATCC 35061" "Methanobrevibacter smithii DSM 861" "Methanobrevibacter smithii str. ATCC 35061" + "Anomalie syndromique du développement des yeux" "isovaleric aciduria" "isovaleric acidemia" "Isovalericacidemia" @@ -192321,13 +192331,13 @@ "hNT" "NTERA-2N" "blood serum scinderin amount" + "Athyroidal hypothyroidism-spiky hair-cleft palate syndrome" + "Bamforth syndrome" + "Hypothyroidism - cleft palate" "congenital disorder of glycosylation" "CDG" "carbohydrate-deficient glycoprotein syndrome" "carbohydrate deficient glycoprotein syndrome" - "Athyroidal hypothyroidism-spiky hair-cleft palate syndrome" - "Bamforth syndrome" - "Hypothyroidism - cleft palate" "Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy" "Carvajal syndrome" "Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" @@ -193006,6 +193016,7 @@ "corpus allatum primordium" "(2S)-2-acetamidobutanedioate" "Rabson-Mendenhall syndrome" + "T-B+ SCID due to CD45 deficiency" "Monteggia's fracture of ulna" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" "immunodeficiency 27B, mycobacteriosis, AD" @@ -193019,9 +193030,8 @@ "immunodeficiency 27B" "autosomal dominant MSMD due to partial IFNgammaR1 deficiency" "blood serum protocadherin gamma-A12 amount" - "T-B+ SCID due to CD45 deficiency" - "AML, t(11;15)(p15;q35)" "dental pain" + "AML, t(11;15)(p15;q35)" "hereditary spastic paraplegia type 48" "SPG48" "hereditary spastic paraplegia caused by mutation in AP5Z1" @@ -193121,10 +193131,10 @@ "partial deletion of the short arm of chromosome 20" "partial monosomy of the short arm of chromosome type 20" "partial monosomy of chromosome 20p" + "blood serum latexin amount" "bile duct in situ carcinoma" "stage 0 bile duct carcinoma" "carcinoma in situ of bile duct" - "blood serum latexin amount" "blood serum cytosolic endo-beta-N-acetylglucosaminidase amount" "Convulsive encephalopathy" "blood amyloid-beta precursor protein amount" @@ -193203,9 +193213,9 @@ "Vitamin B12-responsive methylmalonic aciduria, type cblB" "Gingival fibromatosis - hepatosplenomegaly - other anomalies" "Laband syndrome" - "blood probable global transcription activator SNF2L2 amount" "Abnormal aorta morphology" "Abnormality of the aorta" + "blood probable global transcription activator SNF2L2 amount" "blood serum sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating amount" "blood serum hemoglobin subunit zeta amount" "blood serum keratocan amount" @@ -193553,10 +193563,10 @@ "Bird Fancier's Lung" "Avian hypersensitivity pneumonitis" "bird fancier's lung" - "Humero-radio-ulnar intercalary transverse meromelia, unilateral" "metabolimic profiling" "Joubert syndrome with JATD" "JBTS with JATD" + "Humero-radio-ulnar intercalary transverse meromelia, unilateral" "central pontine myelinosis" "central pontine myelinolysis" "osmotic demyelination syndrome" @@ -194441,15 +194451,15 @@ "pediatric kidney angiomyolipoma" "mammary epithelial cell" "breast epithelial cell" - "THC7" - "Thrombocytopenia, Autosomal Dominant, 7" - "thrombocytopenia 7" "Helicobacter pylori strain P12" "Helicobacter pylori str. P12" "leiomyosarcoma of lung" "pulmonary leiomyosarcoma" "lung leiomyosarcoma" "leiomyosarcoma of the lung" + "THC7" + "Thrombocytopenia, Autosomal Dominant, 7" + "thrombocytopenia 7" "Fanconi-de toni syndrome" "deToni Fanconi syndrome" "Fanconi's syndrome" @@ -194933,15 +194943,15 @@ "secondary hyperparathyroidism (of renal origin)" "hyperparathyroidism due to renal insufficiency" "blood otoancorin amount" - "ND00259 cell" - "blood serum calcipressin-1 amount" - "non-Zellweger spectrum disorder" "Peste-des-Petits-Ruminants" "Ovine rinderpest" "Goat plague" "PPR" "Stomatitis-Pneumoenteritis Syndrome" "Pseudorinderpest" + "ND00259 cell" + "blood serum calcipressin-1 amount" + "non-Zellweger spectrum disorder" "blood serum V-set and immunoglobulin domain-containing protein 2 amount" "blood serum exosome complex component RRP43 amount" "Pee issues" @@ -195102,11 +195112,11 @@ "diabetes mellitus, insulin-dependent, type 20" "IDDM20" "hyperthyroxinemia" - "4-acetamidophenyl hydrogen sulfate" "large bowel tubulovillous adenoma" "colorectal tubulovillous adenoma" "tubulovillous adenoma of the large bowel" "tubulovillous adenoma of large bowel" + "4-acetamidophenyl hydrogen sulfate" "blood serum zinc finger protein with KRAB and SCAN domains 7 amount" "anaplastic large cell lymphoma of the central nervous system" "anaplastic central nervous system large cell lymphoma" @@ -195195,6 +195205,9 @@ "Photosensitive skin" "eyelid hypotrichosis" "TAG 52:4" + "mid intestine" + "middle intestine" + "intestinum jejunum" "Forestier's disease" "Disseminated idiopathic skeletal hyperostosis (disorder)" "Hyperostosis, Diffuse Idiopathic Skeletal" @@ -195204,9 +195217,6 @@ "Ankylosing vertebral hyperostosis" "disseminated idiopathic skeletal hyperostosis" "dish" - "mid intestine" - "middle intestine" - "intestinum jejunum" "blood serum DDB1- and CUL4-associated factor 5 amount" "Wellesley-Carman-French syndrome" "urachal cyst" @@ -195588,9 +195598,9 @@ "syndrome associated with gastroduodenal malformation" "VZV IgG measurement" "chromosome 17p13.1 deletion syndrome" + "blood RalBP1-associated Eps domain-containing protein 2 amount" "global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome" "glow syndrome" - "blood RalBP1-associated Eps domain-containing protein 2 amount" "3-hydroxyisobutyric aciduria" "epidermoid carcinoma of vulva" "vulva epidermoid carcinoma" @@ -195836,8 +195846,8 @@ "craniofacial-ulnar-renal syndrome" "oculopalatoskeletal syndrome" "DHEA-S measurement" - "Humero-radio-ulnar intercalary transverse meromelia, bilateral" "blood serum cullin-4B amount" + "Humero-radio-ulnar intercalary transverse meromelia, bilateral" "Cerebral Arterial Diseases" "cerebral arterial disease" "GM17190 cell" @@ -196027,19 +196037,19 @@ "malignant colorectal tumor" "malignant large bowel neoplasm" "malignant colorectum neoplasm" - "blood serum ADP-ribosylation factor-binding protein GGA3 amount" "acquired hypopituitarism" "blood serum Phosphatidylcholine (18:0_22:6) amount" + "blood serum ADP-ribosylation factor-binding protein GGA3 amount" "blood serum TBC1 domain family member 22B amount" "blood N-sulphoglucosamine sulphohydrolase amount" "HHML" + "GM17738 cell" + "autosomal recessive intellectual disability due to TRAPPC9 deficiency" + "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" "Syphilis, Cardiovascular" "syphilitic aortitis" "Syphilitic aortitis (disorder)" "Syphilitic aortitis" - "GM17738 cell" - "autosomal recessive intellectual disability due to TRAPPC9 deficiency" - "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" "primary cutaneous diffuse large B-cell lymphoma, Leg type" "PCDLBCL,LT" "genetic peripheral neuropathy" @@ -196098,6 +196108,7 @@ "Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome" "MMIHS" "Berdon syndrome" + "Boylan-Dew syndrome" "X-linked MSMD" "mendelian susceptibility to mycobacterial diseases, X-linked" "Gestational herpes" @@ -196109,7 +196120,6 @@ "gestational pemphigoid" "Herpes gestationis" "Herpes gestationis NOS (disorder)" - "Boylan-Dew syndrome" "craniosynostosis syndrome, autosomal recessive" "autosomal recessive craniosynostosis" "craniosynostosis, autosomal recessive" @@ -196218,11 +196228,11 @@ "familial prothrombin consumption inhibitor" "familial prothrombin conversion defect" "Scott syndrome" + "primary retention of teeth" + "PFE" "Megaconial congénital muscular dystrophy" "Congenital muscular dystrophy with mitochondrial structural abnormalities" "Congenital megaconial myopathy" - "primary retention of teeth" - "PFE" "blood phosphofurin acidic cluster sorting protein 2 amount" "blood serum calcipressin-2 amount" "Pestivirus infectious disease" @@ -197196,13 +197206,13 @@ "GM17743 cell" "systolic heart failure" "Heart Failure, Systolic" - "ataxia, posterior column, with retinitis pigmentosa" - "PCARP" - "autosomal recessive posterior column ataxia and retinitis pigmentosa" "PEL" "primary Effusion Lymphoma" "primary effusion lymphoma" "body cavity-based lymphoma" + "ataxia, posterior column, with retinitis pigmentosa" + "PCARP" + "autosomal recessive posterior column ataxia and retinitis pigmentosa" "small cell carcinoma of larynx" "laryngeal throat small cell cancer" "laryngeal small cell carcinoma" @@ -197299,10 +197309,10 @@ "infection by Echinochasmus" "Echinostomiasis (disorder)" "Echinostomatoidea disease or disorder" - "blood serum small ribosomal subunit protein eS1 amount" "Hemoglobin C" "Measurement of Hemoglobin C" "HGBC" + "blood serum small ribosomal subunit protein eS1 amount" "OvHV-2" "ovine herpesvirus-2 OHV-2" "OvHV2" @@ -197339,16 +197349,16 @@ "phagocyte bactericidal dysfunction" "phagocytic dysfunction" "Phagocyte Bactericidal Dysfunction" - "Trichotillomania" "blood serum calcipressin-3 amount" + "Trichotillomania" "bifid femur-monodactylous ectrodactyly syndrome" "Gollop-Wolfgang complex" "blood serum lysophospholipase D GDPD1 amount" "blood epigen amount" "pulmonary valve stenosis" "Pulmonary Valve Stenosis" - "blood serum desmocollin-1 amount" "Enterocolitis, Pseudomembranous" + "blood serum desmocollin-1 amount" "blood serum membrane-bound transcription factor site-1 protease amount" "anatomical entity prostate-specific antigen amount" "Wolhynia qintanae" diff --git a/src/ontology/reports/xrefs.tsv b/src/ontology/reports/xrefs.tsv index 4c521e71..ea9c45ff 100644 --- a/src/ontology/reports/xrefs.tsv +++ b/src/ontology/reports/xrefs.tsv @@ -8,9 +8,9 @@ "BTO:0002960" "CLO:0003674" "RRID:CVCL_0293" + "PMID:29875488" "UMLS:C2931484" "MeSH:C537400" - "PMID:29875488" "SNOMEDCT:122446006" "NCIt:C74803" "PMID:37794183" @@ -606,8 +606,8 @@ "OMIM:612075" "OMIM:604712" "MAT:0000479" - "PMID:37794183" "PMID:22939981" + "PMID:37794183" "OMIM:616079" "GARD:17640" "MEDGEN:863583" @@ -621,11 +621,11 @@ "ICD10:Q87.5" "OMIM:309500" "PMID:37794183" - "PMID:37794183" - "PMID:31530798" "OMIM:605714" "ICD10:I68.0*" "ICD10:E85.4+" + "PMID:37794183" + "PMID:31530798" "PMID:29875488" "PMID:35347128" "MedDRA:10039768" @@ -1068,10 +1068,6 @@ "MeSH:C537136" "ICD10:D53.0" "UMLS:C0220987" - "SNOMEDCT:387005008" - "SNOMEDCT:116084008" - "NCIt:C61523" - "MeSH:C106538" "SNOMEDCT_US:364538006" "SNOMEDCT_US:52613005" "SNOMEDCT_US:415691001" @@ -1082,6 +1078,10 @@ "UMLS:C0020458" "SNOMEDCT_US:161857006" "SNOMEDCT_US:415690000" + "SNOMEDCT:387005008" + "SNOMEDCT:116084008" + "NCIt:C61523" + "MeSH:C106538" "MEDGEN:234239" "UMLS:C1333491" "NCIT:C6082" @@ -1092,11 +1092,11 @@ "MESH:D057165" "UMLS:C2718000" "MEDGEN:403490" - "PMID:24816252" "UMLS:C1858106" "OMIM:604805" "MeSH:C537484" "ICD10:G11.4" + "PMID:24816252" "UMLS:C0334459" "SCTID:403996004" "ONCOTREE:IFS" @@ -1479,14 +1479,14 @@ "UMLS:C0522214" "SNOMEDCT_US:102968003" "PMID:29875488" + "LINCS:LSM-2135" + "PMID:24506204" + "NCIt:C68301" "PMID:23315938" "PMID:17029002" "HMDB:HMDB0000848" "Reaxys:8731846" "PMID:17761175" - "LINCS:LSM-2135" - "PMID:24506204" - "NCIt:C68301" "UMLS:C4755310" "GARD:20050" "MEDGEN:1666207" @@ -2355,8 +2355,8 @@ "OMIM:619690" "MEDGEN:1794266" "UMLS:C5562056" - "PMID:29875488" "PMID:37794183" + "PMID:29875488" "OMIM:615873" "ICD10:Q87.0" "OMIM:617920" @@ -2523,10 +2523,10 @@ "MEDGEN:82793" "MESH:C537860" "NANDO:1200654" - "ICD10:E11" "MEDGEN:1738652" "UMLS:C5436458" "OMIM:618950" + "ICD10:E11" "UMLS:C2930962" "RRID:CVCL_0458" "BTO:0002588" @@ -2798,12 +2798,12 @@ "DOID:0080272" "UMLS:C4540453" "PMID:37794183" - "NCIt:C94618" - "Wikipedia:Excretion" "BTO:0002405" "RRID:CVCL_0258" "CLO:0002932" " CLO:0002933" + "NCIt:C94618" + "Wikipedia:Excretion" "UMLS:C0265280" "GARD:3047" "MEDGEN:82698" @@ -3522,6 +3522,13 @@ "OMIM:619465" "UMLS:C5561950" "MEDGEN:1794160" + "MetaCyc:BROMOBENZENE" + "KEGG:C11036" + "PMID:10996478" + "CAS:108-86-1" + "Wikipedia:Bromobenzene" + "PMID:24318069" + "Reaxys:1236661" "MeSH:D014605" "MONDO:0020283" "SCTID:128473001" @@ -3536,13 +3543,6 @@ "HP:0000554" "MESH:D014605" "NCIt:C26909" - "MetaCyc:BROMOBENZENE" - "KEGG:C11036" - "PMID:10996478" - "CAS:108-86-1" - "Wikipedia:Bromobenzene" - "PMID:24318069" - "Reaxys:1236661" "PMID:35347128" "Orphanet:808" "ICD9:759.89" @@ -3804,7 +3804,6 @@ "DOID:0050882" "SNOMEDCT:1161001" "PMID:24816252" - "PMID:28240269" "galen:ProstateGland" "UMLS:C0033572" "CALOHA:TS-0828" @@ -3822,6 +3821,7 @@ "EV:0100104" "VHOG:0001261" "EMAPA:19287" + "PMID:28240269" "MEDGEN:1648439" "DOID:0111403" "OMIM:618273" @@ -4065,9 +4065,6 @@ "SCTID:363410008" "PMID:29875488" "PMID:28922980" - "PMID:23823483" - "UMLS:C2750654" - "UMLS:C4021883" "MeSH:D007967" "MESH:D007967" "SCTID:67795000" @@ -4078,6 +4075,9 @@ "MEDGEN:44132" "MONDO:0006880" "SNOMEDCT:67795000" + "PMID:23823483" + "UMLS:C2750654" + "UMLS:C4021883" "PMID:37794183" "OMIM:618922" "UMLS:C5394517" @@ -4087,12 +4087,12 @@ "UMLS:C0454641" "UMLS:C4280573" "UMLS:C1847610" + "UMLS:C4023137" "MeSH:C535436" "OMIM:158810" "ICD10:G71.0" "OMIM:616471" "UMLS:C1834674" - "UMLS:C4023137" "NCIt:C27072" "MEDGEN:2872" "SCTID:254622008" @@ -4280,8 +4280,8 @@ "PMID:27193062" "NCIT:C40130" "MEDGEN:274487" - "DOID:5324" "UMLS:C1517114" + "DOID:5324" "GARD:2523" "MESH:C564214" "SCTID:716024001" @@ -4686,11 +4686,6 @@ "Orphanet:466768" "GARD:17829" "UMLS:C1866496" - "icd11.foundation:1857115524" - "UMLS:C0686378" - "SCTID:275269004" - "MEDGEN:195785" - "NCIT:C8548" "ICD10:D01.4" "Orphanet:104075" "icd11.foundation:1369513329" @@ -4703,6 +4698,11 @@ "GARD:0013090" "EFO:1000532" "MONDO:0003198" + "icd11.foundation:1857115524" + "UMLS:C0686378" + "SCTID:275269004" + "MEDGEN:195785" + "NCIT:C8548" "PMID:29875488" "MEDGEN:1666981" "GARD:17353" @@ -4768,7 +4768,6 @@ "MEDGEN:88444" "SNOMEDCT_US:59455009" "UMLS:C0220981" - "PMID:37164013" "KEGG:C05824" "PMID:23392866" "Reaxys:1726832" @@ -4778,7 +4777,7 @@ "CAS:1637-71-4" "PDBeChem:CSU" "PMID:23430915" - "PMID:28878392" + "PMID:37164013" "DOID:12721" "icd11.foundation:2009123831" "NORD:1468" @@ -4793,6 +4792,7 @@ "MEDGEN:6461" "ICD10CM:Q77.3" "JAX:004460" + "PMID:28878392" "MEDGEN:482413" "UMLS:C3280783" "OMIM:614431" @@ -5014,8 +5014,8 @@ "MONDO:0004982" "MeSH:D010195" "DOID:4989" - "MEDGEN:14586" "NCIt:C3306" + "MEDGEN:14586" "MedDRA:10033645" "SCTID:75694006" "MESH:D010195" @@ -5047,8 +5047,8 @@ "MEDGEN:816730" "OMIM:615744" "PMID:37253714" - "ICD10:Q93.5" "ICD10:E03.1" + "ICD10:Q93.5" "MedDRA:10014688" "SNOMEDCT:56819008" "MONDO:0005025" @@ -5067,12 +5067,12 @@ "ICD9:421.9" "ICD10:I38" "NCIT:C34582" - "PMID:23823483" - "RRID:CVCL_0297" - "BTO:0002590" "UMLS:C4020854" "UMLS:C0027746" "UMLS:C0524851" + "PMID:23823483" + "RRID:CVCL_0297" + "BTO:0002590" "HP:0003193" "MEDGEN:382012" "DOID:4481" @@ -5123,17 +5123,17 @@ "UMLS:C4721788" "PMID:37794183" "NCIt:C15189" + "UMLS:C2930869" + "UMLS:C1865294" + "OMIM:602484" + "MeSH:C535548" + "MeSH:C535292" "ZFA:0000265" "NCIT:C3127" "SCTID:126686005" "MEDGEN:43797" "UMLS:C0020627" "NCIt:C121970" - "UMLS:C2930869" - "UMLS:C1865294" - "OMIM:602484" - "MeSH:C535548" - "MeSH:C535292" "PMID:28235828" "SNOMEDCT:55827005" "NCIt:C50631" @@ -5408,8 +5408,6 @@ "BAMS:Pons" "Orphanet:98638" "PMID:35347128" - "NCIt:C114130" - "ICD10:O73" "ICD9:621.8" "NCIT:C26907" "MEDGEN:22590" @@ -5418,6 +5416,8 @@ "MESH:D014591" "ICD9:621.9" "DOID:345" + "NCIt:C114130" + "ICD10:O73" "CLO:0009227" "RRID:CVCL_0594" "BTO:0005065" @@ -6092,6 +6092,8 @@ "BTO:0002252" "NCIt:C12454" "MAT:0000348" + "OMIM:133000" + "ICD10:L59.8" "GAID:1285" "EFO:0001386" "SCTID:362082005" @@ -6101,8 +6103,6 @@ "Wikipedia:Palatine_uvula" "FMA:55022" "BTO:0002204" - "OMIM:133000" - "ICD10:L59.8" "UMLS:C4014803" "OMIM:615954" "MONDO:0014416" @@ -6175,11 +6175,11 @@ "NCIT:C5619" "MEDGEN:277574" "PMID:24816252" + "PMID:29875488" "UM-BBD_reactionID:r0209" "EC:1.8.3.4" "RHEA:11812" "MetaCyc:METHANETHIOL-OXIDASE-RXN" - "PMID:29875488" "PMID:24816252" "GARD:20994" "Orphanet:269215" @@ -6187,8 +6187,8 @@ "UMLS:C5680778" "Wikipedia:Putamen" "PMID:28927378" - "PMID:23823483" "FBbt:00000441" + "PMID:23823483" "NCIt:C81183" "ZFA:0001299" "BTO:0001445" @@ -7620,8 +7620,8 @@ "NANDO:1200513" "UMLS:C1857093" "PMID:29875488" - "GARD:20492" "MEDGEN:308948" + "GARD:20492" "ICD10CM:C53.0" "Orphanet:213792" "DOID:4111" @@ -7734,10 +7734,13 @@ "SCTID:609618002" "PMID:34128465" "PMID:28240269" + "NCIt:C41009" + "NCIT:C41009" + "MONDO:0021125" "BTO:0000671" "UMLS:C0022646" - "galen:Kidney" "MIAA:0000119" + "galen:Kidney" "XAO:0003267" "MESH:D007668" "CALOHA:TS-0510" @@ -7745,9 +7748,6 @@ "GAID:423" "MAT:0000119" "AAO:0000250" - "NCIt:C41009" - "NCIT:C41009" - "MONDO:0021125" "PMID:35347128" "SNOMEDCT_US:22253000" "UMLS:C0030193" @@ -8129,8 +8129,8 @@ "DOID:4442" "MEDGEN:273905" "UMLS:C1516408" - "PMID:29875488" "PMID:37794183" + "PMID:29875488" "OMIM:613530" "UMLS:C3150786" "DOID:0110303" @@ -8333,8 +8333,8 @@ "SNOMEDCT:27268008" "PMID:35347128" "PMID:37794183" - "FMA:83038" "PMID:36168886" + "FMA:83038" "UMLS:C0596773" "ICD9:323.4" "MESH:D000069544" @@ -8408,6 +8408,7 @@ "NCIT:C102820" "SCTID:63922003" "icd11.foundation:440849195" + "PMID:29875488" "GARD:19612" "ICD10CM:H35.5" "Orphanet:99003" @@ -8415,7 +8416,6 @@ "SCTID:723408004" "MEDGEN:1376850" "UMLS:C4509881" - "PMID:29875488" "SCTID:402599005" "UMLS:C0000889" "ICD10:L83" @@ -8770,7 +8770,6 @@ "ICD10:D75" "DOID:74" "PMID:24582499" - "ZFA:0000905" "SNOMEDCT:12026006" "MeSH:D013614" "Wikipedia:Paroxysmal_tachycardia" @@ -8778,6 +8777,7 @@ "ICD10:I47" "UMLS:C0039236" "MedDRA:10034047" + "ZFA:0000905" "MeSH:D047428" "SNOMEDCT:426265004" "SNOMEDCT:427510007" @@ -8814,8 +8814,8 @@ "MESH:D010049" "MA:0000342" "SCTID:181224006" - "FMA:59762" "galen:Gingiva" + "FMA:59762" "EFO:0001925" "EV:0100064" "Wikipedia:Gingiva" @@ -8859,12 +8859,12 @@ "MESH:D059268" "ICD9:627.3" "RRID:CVCL_1865" - "MEDGEN:233275" "DOID:5263" "NCIT:C5234" "MONDO:0003355" "UMLS:C1335163" "EFO:0006718" + "MEDGEN:233275" "PMID:29875488" "CLO:0050181" "RRID:CVCL_0227" @@ -9502,11 +9502,11 @@ "ICD10:G71.3" "UMLS:C0162671" "PMID:29875488" - "PMID:35347128" "OMIMPS:206100" "MESH:C567144" "UMLS:C2673913" "MEDGEN:388759" + "PMID:35347128" "UMLS:C1851526" "GARD:9707" "OMIM:132700" @@ -9862,6 +9862,14 @@ "NCIT:C3240" "MESH:D009059" "MEDGEN:6448" + "MESH:C567088" + "ICD9:758.89" + "MEDGEN:382033" + "Orphanet:73229" + "SCTID:702428000" + "UMLS:C2673195" + "GARD:10889" + "OMIM:611773" "PMID:15187422" "Reaxys:965511" "CAS:22916-47-8" @@ -9886,14 +9894,6 @@ "PMID:24919490" "PMID:24629000" "PMID:11922774" - "MESH:C567088" - "ICD9:758.89" - "MEDGEN:382033" - "Orphanet:73229" - "SCTID:702428000" - "UMLS:C2673195" - "GARD:10889" - "OMIM:611773" "OMIM:138790" "Orphanet:2091" "MEDGEN:333929" @@ -10650,18 +10650,18 @@ "MEDGEN:99176" "UMLS:C0473563" "NCIT:C35467" - "SCTID:92060009" - "NCIT:C4779" - "icd11.foundation:1138156221" - "UMLS:C0496894" - "ICD9:224.0" - "MEDGEN:96927" "CL:0000082" "UMLS:C1334386" "DOID:6085" "SCTID:277530005" "NCIT:C5317" "MEDGEN:272793" + "SCTID:92060009" + "NCIT:C4779" + "icd11.foundation:1138156221" + "UMLS:C0496894" + "ICD9:224.0" + "MEDGEN:96927" "MEDGEN:899184" "GARD:18249" "OMIM:616724" @@ -10784,9 +10784,9 @@ "PMID:20467451" "CiteXplore:19915381 \"PubMed citation\"" "PMID:8528057" + "CiteXplore:21909959 \"PubMed citation\"" "CiteXplore:21296675 \"PubMed citation\"" "CAS:75607-67-9" - "CiteXplore:21909959 \"PubMed citation\"" "CiteXplore:21725721 \"PubMed citation\"" "CiteXplore:19862681 \"PubMed citation\"" "DrugBank:DB01073" @@ -11071,7 +11071,6 @@ "ICD10:Q01.2" "ICD10:Q01.1" "ICD10:Q01.0" - "PMID:35347128" "Wikipedia:Pityriasis_rosea" "NCIT:C26855" "ICD10CM:L42" @@ -11085,6 +11084,7 @@ "DOID:8892" "ICD9:696.3" "MESH:D017515" + "PMID:35347128" "icd11.foundation:237039059" "DOID:0110826" "SCTID:232057003" @@ -11270,7 +11270,6 @@ "PMID:22770225" "Reaxys:83652" "PMID:24681531" - "PMID:37794183" "SNOMEDCT_US:109417006" "UMLS:C1833340" "ICD9:389.1" @@ -11283,6 +11282,7 @@ "MEDGEN:336750" "UMLS:C1844678" "GARD:4504" + "PMID:37794183" "FBbt:00005550" "PMID:35050183" "icd11.foundation:430573082" @@ -11343,8 +11343,8 @@ "UMLS:C5681075" "MEDGEN:1842769" "icd11.foundation:979972142" - "PMID:29875488" "UMLS:C0747241" + "PMID:29875488" "NCIT:C7061" "UMLS:C1335765" "MEDGEN:277595" @@ -11760,6 +11760,8 @@ "MEDGEN:6050" "MONDO:0005126" "SNOMEDCT:70143003" + "OMIM:220110" + "ICD10:E88.8" "MEDGEN:237042" "NCIT:C6336" "GARD:20473" @@ -11768,8 +11770,6 @@ "UMLS:C1336917" "Orphanet:213600" "ONCOTREE:UAS" - "OMIM:220110" - "ICD10:E88.8" "PMID:28352666" "MeSH:D003286" "MedDRA:10061785" @@ -12249,14 +12249,14 @@ "RRID:CVCL_0481" "PMID:29875488" "PMID:35347128" - "ICD10:Q87.8" - "UMLS:C0265248" - "OMIM:180870" "UMLS:C3554576" "GARD:17528" "Orphanet:352712" "OMIM:615139" "MEDGEN:767490" + "ICD10:Q87.8" + "UMLS:C0265248" + "OMIM:180870" "KEGG COMPOUND:C00322" "HMDB:0000225" "OMIM:618850" @@ -12290,8 +12290,8 @@ "PMID:4474849" "NCIt:C66559" "PMID:19875674" - "CiteXplore:17965538" "CiteXplore:4776656" + "CiteXplore:17965538" "CiteXplore:4474849" "CiteXplore:19875674" "ChEMBL:229410" @@ -12455,8 +12455,8 @@ "MA:0000414" "CALOHA:TS-0532" "UMLS:C0023078" - "galen:Larynx" "EHDAA2:0004063" + "galen:Larynx" "AAO:0000268" "XAO:0003081" "EV:0100039" @@ -12484,7 +12484,6 @@ "OMIM:616723" "UMLS:C5568882" "DOID:0040095" - "PMID:27560520" "PMID:22200056" "PMID:11502148" "PMID:15212911" @@ -12555,8 +12554,9 @@ "Wikipedia:Imidacloprid" "PMID:15154510" "PMID:25755197" - "PMID:37794183" + "PMID:27560520" "PMID:22608085" + "PMID:37794183" "UMLS:C0020481" "MeSH:D006954" "MedDRA:10060755" @@ -12883,11 +12883,11 @@ "NCIT:C54705" "UMLS:C1882062" "PMID:29875488" - "UMLS:CN228928" - "Orphanet:140459" "ICD10:R29" "UMLS:C1843699" "UMLS:C4021745" + "UMLS:CN228928" + "Orphanet:140459" "PMID:25961010" "PMID:28240269" "GARD:18532" @@ -12932,7 +12932,6 @@ "UMLS:C0270733" "MESH:D020955" "DOID:4751" - "KEGG:C17690" "SNOMEDCT:57406009" "MEDGEN:2856" "ICD9:354.0" @@ -12953,6 +12952,7 @@ "MESH:D002349" "NCIt:C34450" "ICD10:S54" + "KEGG:C17690" "Orphanet:435953" "DOID:0111264" "GARD:17722" @@ -13655,6 +13655,7 @@ "ICDO:9719/3" "NANDO:2200027" "NCIT:C4684" + "PMID:29453196" "NIST Chemistry WebBook:59729-33-8" "HMDB:HMDB0005038" "NCIt:C61680" @@ -13680,7 +13681,6 @@ "PMID:18213744" "Wikipedia:Citalopram" "KEGG COMPOUND:59729-33-8" - "PMID:29453196" "ICD9:077.0" "MEDGEN:1095" "ICD9:077.98" @@ -13919,13 +13919,13 @@ "MA:0002436" "FMA:55220" "GAID:342" - "MeSH:D059004" "MEDGEN:462247" "GARD:12454" "DOID:0110204" "UMLS:C3150897" "OMIM:613641" "Orphanet:254334" + "MeSH:D059004" "MedDRA:10018304" "ICD10:H40" "ICD9:365" @@ -14025,8 +14025,8 @@ "NCIT:C27312" "MedDRA:10054559" "MEDGEN:163546" - "PMID:37794183" "SNOMEDCT:321088006" + "PMID:37794183" "PMID:28240269" "PMID:37794183" "NCIT:C5684" @@ -14422,12 +14422,12 @@ "PMID:35347128" "UMLS:C1845251" "UMLS:C4280646" + "MedDRA:10038275" "MeSH:D012035" "UMLS:C0034960" "OMIM:266500" "ICD10:G60.1" "OMIM:614879" - "MedDRA:10038275" "OMIM:607682" "DOID:0111323" "MEDGEN:413424" @@ -14524,6 +14524,7 @@ "PMID:35347128" "UMLS:C2919341" "SNOMEDCT_US:445124008" + "PMID:36168886" "TAO:0002196" "EHDAA:3698" "EHDAA2:0001164" @@ -14532,7 +14533,6 @@ "EMAPA:16975" "DHBA:12325" "RETIRED_EHDAA2:0001106" - "PMID:36168886" "MEDGEN:233688" "DOID:6175" "NCIT:C6643" @@ -14902,8 +14902,6 @@ "ICD10:Q87.8" "UMLS:C1855904" "OMIM:239710" - "ICD10:G71.0" - "OMIM:603689" "OMIM:235255" "GARD:4157" "DOID:0110943" @@ -14911,32 +14909,20 @@ "MESH:C536059" "UMLS:C1850126" "MEDGEN:342420" + "ICD10:G71.0" + "OMIM:603689" "PMID:29875488" "UMLS:C3280282" "GARD:13686" "MEDGEN:481912" "DOID:0070038" "OMIM:614254" - "UMLS:C4054549" - "NCIt:C123171" "PMID:25262759" "http://flybase.org/reports/FBtc0000151.html" "FBtc:FBtc0000151" "PMID:21177962" - "MedDRA:10079301" - "ICD9:046.19" - "OMIM:606688" - "OMIM:245300" - "SCTID:230284004" - "MONDO:0005429" - "NCIT:C128346" - "UMLS:C0162534" - "NANDO:1200186" - "MESH:D017096" - "MEDGEN:56445" - "DOID:649" - "MedDRA:10080750" - "SNOMEDCT:20484008" + "UMLS:C4054549" + "NCIt:C123171" "ICD9:302.89" "ICD9:302.9" "SCTID:56627002" @@ -14963,6 +14949,20 @@ "VHOG:0000647" "Wikipedia:Ileum" "UMLS:C0020885" + "MedDRA:10079301" + "ICD9:046.19" + "OMIM:606688" + "OMIM:245300" + "SCTID:230284004" + "MONDO:0005429" + "NCIT:C128346" + "UMLS:C0162534" + "NANDO:1200186" + "MESH:D017096" + "MEDGEN:56445" + "DOID:649" + "MedDRA:10080750" + "SNOMEDCT:20484008" "PMID:35888728" "BTO:0003637" "CLO:0002767" @@ -15202,9 +15202,9 @@ "KEGG:C07397" "CAS:111974-69-7" "KEGG:D08456" - "SNOMEDCT:386850001" "SNOMEDCT:108443001" "LINCS:LSM-3543" + "SNOMEDCT:386850001" "Patent:EP240228" "Drug_Central:2337" "Wikipedia:Quetiapine" @@ -15443,10 +15443,10 @@ "NCIT:C7953" "EFO:1001947" "UMLS:C0279583" + "PMID:37794183" "CAS:721-90-4" "Reaxys:2218143" "HMDB:HMDB0028995" - "PMID:37794183" "GARD:9519" "DOID:0080767" "MEDGEN:299070" @@ -16648,11 +16648,11 @@ "SCTID:700062000" "MEDGEN:347366" "ICD9:758.89" - "UMLS:C1851310" "NCIt:C26778" "MedDRA:10028200" "ICD10:T02" "MedDRA:10017087" + "UMLS:C1851310" "GARD:17533" "ICD10EXP:L99.0*" "MESH:C562643" @@ -16794,11 +16794,11 @@ "DOID:0111712" "PMID:37057071" "KEGG:C01251" + "UMLS:C4021862" "ICD10:D61.0" "MedDRA:10067940" "OMIM:260400" "OMIM:617941" - "UMLS:C4021862" "GARD:22576" "OMIM:617709" "UMLS:C4540188" @@ -16912,14 +16912,6 @@ "UMLS:C1857277" "OMIM:222448" "MeSH:C536390" - "UMLS:C0541767" - "UMLS:C5671327" - "Orphanet:860" - "NANDO:1200698" - "GARD:5476" - "DOID:0060770" - "MEDGEN:1812310" - "OMIMPS:608808" "SNOMEDCT:58762006" "icd11.foundation:689481271" "MedDRA:10051818" @@ -16932,6 +16924,14 @@ "UMLS:C0014068" "MEDGEN:4936" "NCIt:C98920" + "UMLS:C0541767" + "UMLS:C5671327" + "Orphanet:860" + "NANDO:1200698" + "GARD:5476" + "DOID:0060770" + "MEDGEN:1812310" + "OMIMPS:608808" "SNOMEDCT:8455004" "FMA:59155" "MESH:D001050" @@ -16996,12 +16996,12 @@ "NCIt:C25742" "ICD10:Z34" "PMID:35668104" - "RRID:CVCL_6898" - "BTO:0005758" "UMLS:C0272052" "OMIM:268150" "OMIM:617970" "ICD10:D58.8" + "RRID:CVCL_6898" + "BTO:0005758" "DOID:2926" "MeSH:D007715" "UMLS:C2931529" @@ -17010,9 +17010,9 @@ "OMIM:155050" "MedDRA:10075843" "ICD10:Q75.8" - "UMLS:C4022996" "UMLS:CN228933" "Orphanet:140477" + "UMLS:C4022996" "PMID:37164013" "GARD:18448" "MEDGEN:1779962" @@ -17123,12 +17123,12 @@ "CAS:2140-67-2" "PMID:22770225" "PMID:37794183" + "SNOMEDCT_US:44574006" + "UMLS:C0151861" "SNOMEDCT_US:195021004" "SNOMEDCT_US:399020009" "UMLS:C0007193" "Fyler:1843" - "SNOMEDCT_US:44574006" - "UMLS:C0151861" "MEDGEN:355573" "MESH:C535860" "UMLS:C1865871" @@ -17540,8 +17540,8 @@ "OMIM:620089" "PMID:34814699" "PMID:24816252" - "Orphanet:497188" "MEDGEN:458884" + "Orphanet:497188" "NCIT:C94764" "GARD:0013075" "MONDO:0006033" @@ -17613,6 +17613,10 @@ "BAMS:SEN" "MeSH:D010937" "SNOMEDCT:67036009" + "DOID:0060938" + "MEDGEN:1794211" + "OMIM:619565" + "UMLS:C5562001" "NCIT:C27038" "MedDRA:10048643" "ORDO:Orphanet_168956" @@ -17631,10 +17635,6 @@ "MONDO:0015691" "DOID:999" "UMLS:C1540912" - "DOID:0060938" - "MEDGEN:1794211" - "OMIM:619565" - "UMLS:C5562001" "Orphanet:79154" "MEDGEN:395350" "DOID:0111453" @@ -17674,8 +17674,8 @@ "NCIt:C34481" "NANDO:1200264" "PMID:35347128" - "PMID:24816252" "UMLS:C0038015" + "PMID:24816252" "OMIM:601451" "OMIM:117550" "MeSH:D058495" @@ -17854,13 +17854,13 @@ "NCIT:C34774" "ICD9:206.1" "UMLS:C4021086" + "OMIM:605779" + "ICD10:Q84.6" "GARD:22644" "MEDGEN:766846" "DOID:0110540" "UMLS:C3553932" "OMIM:614861" - "OMIM:605779" - "ICD10:Q84.6" "PMID:37794183" "UMLS:C4048268" "SNOMEDCT_US:68574006" @@ -18075,6 +18075,7 @@ "OMIM:146510" "PMID:37794183" "CL:0000243" + "PMID:37794183" "UMLS:C0542346" "SNOMEDCT_US:285305004" "SNOMEDCT_US:47002008" @@ -18082,7 +18083,6 @@ "MEDDRA:10037578" "UMLS:C0241157" "SNOMEDCT_US:271760008" - "PMID:37794183" "UMLS:C0228590" "EMAPA:18575" "BAMS:VH" @@ -18727,8 +18727,8 @@ "UMLS:C5235139" "GARD:16942" "Orphanet:101010" - "SCTID:19968009" "MeSH:D042101" + "SCTID:19968009" "DOID:2828" "MEDGEN:82762" "NCIT:C35578" @@ -19063,6 +19063,13 @@ "MEDGEN:10912" "icd11.foundation:22794400" "SCTID:41256004" + "NCIT:C35012" + "UMLS:C0036646" + "ICD9:366.1" + "DOID:9669" + "SCTID:39450006" + "ICD9:366.10" + "MEDGEN:11372" "SCTID:254122007" "DOID:0110941" "MESH:C536058" @@ -19073,13 +19080,6 @@ "UMLS:C0345407" "ICD9:588.89" "Orphanet:2785" - "NCIT:C35012" - "UMLS:C0036646" - "ICD9:366.1" - "DOID:9669" - "SCTID:39450006" - "ICD9:366.10" - "MEDGEN:11372" "PMID:27454931" "HMDB:HMDB0259177" "PMID:34086940" @@ -19175,8 +19175,8 @@ "SAEL:93" "BTO:0001277" "NCIt:C13277" - "MeSH:D012661" "FBbt:00004954" + "MeSH:D012661" "FMA:67338" "WBbt:0006798" "MA:0002765" @@ -19465,7 +19465,6 @@ "Orphanet:308638" "NANDO:2201160" "GARD:17395" - "PMID:28240269" "HMDB:HMDB0000259" "KNApSAcK:C00001429" "KEGG COMPOUND:C00780" @@ -19486,6 +19485,7 @@ "NCIt:C828" "MetaCyc:SEROTONIN" "PMID:24136337" + "PMID:28240269" "UMLS:C0027430" "SNOMEDCT_US:52756005" "Orphanet:157808" @@ -20460,14 +20460,14 @@ "CAS:114-25-0" "DrugBank:DB02073" "PMID:29875488" + "UMLS:C2749936" + "OMIM:611225" + "ICD10:G11.4" "MEDGEN:1842841" "UMLS:C5680771" "Orphanet:2076" "GARD:16584" "PMID:29875488" - "UMLS:C2749936" - "OMIM:611225" - "ICD10:G11.4" "UMLS:C5680067" "Orphanet:447896" "GARD:17774" @@ -20870,15 +20870,15 @@ "ICD10:S62" "UMLS:CN200547" "Orphanet:183487" + "MEDGEN:1684867" + "UMLS:C5231400" + "OMIM:618009" + "GARD:18514" "UMLS:C0026987" "MEDGEN:10146" "NCIT:C3248" "NANDO:2100200" "NANDO:2200692" - "MEDGEN:1684867" - "UMLS:C5231400" - "OMIM:618009" - "GARD:18514" "MEDGEN:313374" "EFO:1000340" "UMLS:C1708792" @@ -20934,14 +20934,6 @@ "ICDO:9562/0" "MONDO:0006317" "EFO:1000394" - "EFO:1000223" - "UMLS:C0278804" - "MEDGEN:82985" - "ONCOTREE:DA" - "NCIT:C7889" - "DOID:10816" - "MONDO:0006186" - "SCTID:408644002" "DOID:0110779" "MEDGEN:332174" "Orphanet:101008" @@ -20953,6 +20945,14 @@ "PMID:26415143" "NIFSTD:birnlex_982" "BTO:0002434" + "EFO:1000223" + "UMLS:C0278804" + "MEDGEN:82985" + "ONCOTREE:DA" + "NCIT:C7889" + "DOID:10816" + "MONDO:0006186" + "SCTID:408644002" "MeSH:D056104" "MeSH:D001724" "NCIt:C76325" @@ -20983,14 +20983,14 @@ "MeSH:C536072" "OMIM:601379" "ICD10:Q87.0" - "OMIM:129200" - "ICD10:Q82.8" "OMIM:194190" "MedDRA:10050361" "MeSH:C536740" "MeSH:D054877" "ICD10:Q93.3" "UMLS:C1956097" + "OMIM:129200" + "ICD10:Q82.8" "UMLS:C0021655" "SNOMEDCT_US:48606007" "UMLS:C0796184" @@ -21229,7 +21229,6 @@ "SNOMEDCT:8033002" "NCIt:C72366" "DOID:0050702" - "PMID:28024297" "GAZ:00002802" "NANDO:2200036" "icd11.foundation:933337476" @@ -21248,6 +21247,7 @@ "MEDGEN:266041" "icd11.foundation:588958190" "Orphanet:86897" + "PMID:28024297" "DOID:1876" "UMLS:C0237873" "MEDGEN:66756" @@ -21656,8 +21656,8 @@ "PDBeChem:TYL" "CiteXplore:11304127" "CiteXplore:21108564" - "PMID:21108564" "Wikipedia:Acetaminophen" + "PMID:21108564" "CiteXplore:7602118" "HMDB:HMDB01859" "CiteXplore:16716555" @@ -21787,10 +21787,10 @@ "UMLS:C0238518" "EFO:1000620" "PMID:34503513" + "PMID:23129659" "BTO:0000661" "RRID:CVCL_0065" "CLO:0007043" - "PMID:23129659" "DOID:0060294" "Orphanet:157820" "OMIMPS:272430" @@ -21855,6 +21855,8 @@ "ICD9:227.8" "NCIT:C4621" "SCTID:92085000" + "OMIM:300660" + "ICD10:G11.4" "SNOMEDCT_US:108367008" "SNOMEDCT_US:87642003" "UMLS:C0012691" @@ -21864,8 +21866,6 @@ "UMLS:C4303570" "SCTID:717813005" "Orphanet:73223" - "OMIM:300660" - "ICD10:G11.4" "UMLS:C3553471" "MONDO:0005279" "SNOMEDCT:59282003" @@ -22244,7 +22244,6 @@ "DOID:0081295" "UMLS:C5394329" "MEDGEN:1711112" - "PMID:29875488" "MONDO:0018153" "NORD:1102" "MedDRA:10060801" @@ -22264,6 +22263,7 @@ "DOID:4329" "icd11.foundation:146718003" "ONCOTREE:ECD" + "PMID:29875488" "UMLS:C1866985" "OMIM:181515" "ICD10:Q87.8" @@ -22397,6 +22397,15 @@ "MESH:D002526" "DOID:2786" "UMLS:C0007760" + "MONDO:0001236" + "NCIt:C4434" + "MESH:D001063" + "MeSH:D001063" + "NCIT:C4434" + "SCTID:126846004" + "UMLS:C0003614" + "DOID:11240" + "MEDGEN:1629" "UMLS:C0206685" "MONDO:0004965" "GARD:0008568" @@ -22411,15 +22420,6 @@ "NCIT:C12613" "UMLS:C0242873" "BTO:0002318" - "MONDO:0001236" - "NCIt:C4434" - "MESH:D001063" - "MeSH:D001063" - "NCIT:C4434" - "SCTID:126846004" - "UMLS:C0003614" - "DOID:11240" - "MEDGEN:1629" "UMLS:C5561994" "MEDGEN:1794204" "OMIM:619548" @@ -22901,6 +22901,8 @@ "KNApSAcK:C00007288" "MetaCyc:GLYCEROL-3P" "NCIt:C4508" + "UMLS:C0545131" + "NCIt:C98494" "OMIM:604360" "UMLS:C1858479" "DOID:0110764" @@ -22909,8 +22911,6 @@ "SCTID:715491000" "NCIT:C148317" "Orphanet:2822" - "UMLS:C0545131" - "NCIt:C98494" "NCIt:C85050" "PMID:29093273" "Orphanet:369979" @@ -23103,16 +23103,16 @@ "MEDGEN:1826105" "GARD:20602" "UMLS:C5680920" + "MeSH:C538336" + "UMLS:C0796085" + "OMIM:302350" + "ICD10:Q87.0" "GARD:17555" "UMLS:C3809165" "Orphanet:363424" "DOID:0080135" "OMIM:615330" "MEDGEN:815495" - "MeSH:C538336" - "UMLS:C0796085" - "OMIM:302350" - "ICD10:Q87.0" "PMID:25622106" "UMLS:C0155686" "ICD9:422.99" @@ -23305,9 +23305,9 @@ "MedDRA:10084239" "UMLS:C0796110" "OMIM:311450" + "PMID:35668104" "PMID:28369058" "PMID:27182965" - "PMID:35668104" "MEDGEN:41610" "MESH:D004198" "UMLS:C0012655" @@ -23463,12 +23463,12 @@ "MA:0000095" "MAT:0000498" "EHDAA2:0004183" - "MEDGEN:1794176" - "UMLS:C5561966" - "OMIM:619487" "MEDGEN:1709701" "DOID:0060099" "UMLS:C5237920" + "MEDGEN:1794176" + "UMLS:C5561966" + "OMIM:619487" "OMIM:132600" "NCIt:C4615" "MEDGEN:442587" @@ -23515,12 +23515,12 @@ "OMIM:107500" "MeSH:C537785" "ICD10:Q87.8" + "PMID:24816252" "EFO:0001979" "BTO:0006312" "EMAPA:36254" "FMA:22543" "Wikipedia:Plantaris_muscle" - "PMID:24816252" "MEDGEN:1842168" "Orphanet:309001" "GARD:21313" @@ -23792,17 +23792,17 @@ "DOID:0080456" "GARD:16205" "PMID:37794183" - "PMID:29875488" "ICD10:D64.0" + "PMID:29875488" + "OMIM:605714" + "ICD10:I68.0*" + "ICD10:E85.4+" "UMLS:C4311049" "OMIM:300979" "GARD:17955" "MEDGEN:935016" "NCIT:C177544" "Orphanet:521258" - "OMIM:605714" - "ICD10:I68.0*" - "ICD10:E85.4+" "MONDO:0005998" "DOID:8399" "MeSH:D014323" @@ -24292,13 +24292,6 @@ "PMID:29875488" "PMID:35347128" "UMLS:C4022792" - "ICD9:133.9" - "DOID:7894" - "UMLS:C0026229" - "MESH:D008924" - "SCTID:240885009" - "MEDGEN:7661" - "ICD9:133" "DOID:5635" "EFO:1000029" "ONCOTREE:STAS" @@ -24306,6 +24299,13 @@ "MONDO:0006034" "UMLS:C1333761" "MEDGEN:272661" + "ICD9:133.9" + "DOID:7894" + "UMLS:C0026229" + "MESH:D008924" + "SCTID:240885009" + "MEDGEN:7661" + "ICD9:133" "Wikipedia:Homocysteine" "PMID:16596805" "HMDB:HMDB0000742" @@ -24384,11 +24384,10 @@ "MedDRA:10057666" "MESH:D001008" "UMLS:C0003469" + "PMID:37794183" "MeSH:C536085" "UMLS:C1839988" "OMIM:308205" - "PMID:37794183" - "PMID:29875488" "RRID:CVCL_5137" "BTO:0006027" "GARD:16450" @@ -24396,6 +24395,7 @@ "CLO:0009221" "RRID:CVCL_0547" "BTO:0000675" + "PMID:29875488" "OMIM:615438" "Orphanet:370088" "MEDGEN:815852" @@ -24444,6 +24444,7 @@ "PMID:37794183" "OMIM:256040" "ZFA:0000284" + "PMID:35347128" "ICD10CM:H52.0" "MESH:D006956" "ICD9:367.0" @@ -24451,7 +24452,6 @@ "MEDGEN:43780" "SCTID:38101003" "UMLS:C0020490" - "PMID:35347128" "PMID:26068415" "OMIMPS:105400" "OMIM:615426" @@ -24544,8 +24544,8 @@ "NANDO:1200549" "MEDGEN:860225" "GARD:7392" - "CLO:0009916" "RRID:CVCL_5589" + "CLO:0009916" "PMID:35347128" "GARD:17960" "UMLS:C4479631" @@ -24652,11 +24652,6 @@ "SNOMEDCT:214001" "MeSH:D013295" "PMID:31015401" - "UMLS:C1336750" - "MEDGEN:237009" - "DOID:8162" - "NCIT:C6042" - "ONCOTREE:OAT" "MedDRA:10029228" "MESH:D009437" "MONDO:0021667" @@ -24667,6 +24662,11 @@ "NCIt:C79695" "SCTID:16269008" "MEDGEN:18010" + "UMLS:C1336750" + "MEDGEN:237009" + "DOID:8162" + "NCIT:C6042" + "ONCOTREE:OAT" "MEDGEN:1648360" "OMIM:618272" "UMLS:C4748924" @@ -24784,6 +24784,7 @@ "ICD10CM:P00-P96" "UMLS:C0270075" "https://www.who.int/maternal_child_adolescent/topics/maternal/maternal_perinatal/en/" + "PMID:24816252" "HP:0005263" "MONDO:0004966" "MEDGEN:4843" @@ -24820,7 +24821,6 @@ "OMIM:611209" "SCTID:718750004" "UMLS:C2931011" - "PMID:24816252" "Orphanet:309331" "NANDO:2201238" "GARD:10871" @@ -24941,6 +24941,10 @@ "SCTID:17406005" "PMID:35347128" "Orphanet:98914" + "UMLS:C3275446" + "MEDGEN:477077" + "GARD:18445" + "OMIM:300854" "icd11.foundation:1729261719" "UMLS:C0008029" "MESH:D002636" @@ -24954,10 +24958,6 @@ "NCIT:C84630" "GARD:6036" "MEDGEN:40219" - "UMLS:C3275446" - "MEDGEN:477077" - "GARD:18445" - "OMIM:300854" "PMID:29875488" "UMLS:C3508773" "Orphanet:99875" @@ -24998,6 +24998,7 @@ "SCTID:15566009" "MeSH:D004313" "MESH:D004313" + "PMID:37794183" "MESH:D017192" "MedDRA:10029147" "NANDO:1200742" @@ -25014,7 +25015,6 @@ "UMLS:C0162283" "SCTID:111395007" "MESH:D018500" - "PMID:37794183" "ORCiD:0000-0002-2244-7917" "TAO:0000669" "GOC:cvs" @@ -25144,7 +25144,6 @@ "UMLS:C4749028" "DOID:0111853" "OMIM:618300" - "PMID:37794183" "SCTID:361097006" "MESH:D001808" "NCIT:C12679" @@ -25169,6 +25168,7 @@ "FMA:63183" "EHDAA:240" "BTO:0001102" + "PMID:37794183" "MEDGEN:436433" "OMIM:614101" "UMLS:C2675436" @@ -26005,11 +26005,11 @@ "MedDRA:10067609" "NORD:1369" "SCTID:238031009" + "PMID:35347128" "OMIM:233810" "ICD10:Q87.8" "UMLS:C2931551" "MeSH:C537621" - "PMID:35347128" "UMLS:C5680792" "MEDGEN:1842763" "Orphanet:3263" @@ -26128,6 +26128,10 @@ "EMAPA:16240" "XAO:0000115" "MA:0000066" + "MEDGEN:1842248" + "GARD:21636" + "UMLS:C5681156" + "Orphanet:397802" "UMLS:C0041825" "SCTID:21426000" "DOID:5782" @@ -26136,10 +26140,6 @@ "MONDO:0003648" "MEDGEN:508258" "ICD9:384.9" - "MEDGEN:1842248" - "GARD:21636" - "UMLS:C5681156" - "Orphanet:397802" "SNOMEDCT:61449004" "NCIT:C168733" "DOID:0080676" @@ -26346,8 +26346,8 @@ "PMID:27160814" "ICD10:G12.2" "UMLS:C0393551" - "UMLS:C1390474" "PMID:29875488" + "UMLS:C1390474" "PMID:37794183" "Orphanet:2338" "OMIM:614195" @@ -26557,9 +26557,9 @@ "NCIT:C4397" "BTO:0002875" "RRID:CVCL_3871" + "PMID:10702418" "OMIM:614199" "ICD10:N04" - "PMID:10702418" "UMLS:C0685409" "SNOMEDCT_US:29271008" "UMLS:C0035615" @@ -26911,13 +26911,13 @@ "UMLS:C3281138" "PMID:37794183" "ICD10:E74.0" + "SNOMEDCT_US:249755001" + "UMLS:C0426874" + "PMID:35347128" "MedDRA:10040958" "MeSH:D012887" "MedDRA:10040961" "ICD10:S02" - "SNOMEDCT_US:249755001" - "UMLS:C0426874" - "PMID:35347128" "PMID:28240269" "PMID:29875488" "FBdv:00005330" @@ -27054,6 +27054,7 @@ "Orphanet:137646" "OMIM:615989" "NCIt:C28491" + "OMIM:613680" "GARD:9706" "icd11.foundation:282570444" "OMIM:193230" @@ -27063,7 +27064,6 @@ "ICD10CM:H35.5" "Orphanet:91496" "MEDGEN:395476" - "OMIM:613680" "ICD10:G11.3" "OMIM:208920" "PMID:29875488" @@ -27086,6 +27086,12 @@ "UMLS:C4023338" "OMIM:234280" "ICD10:Q74.2" + "MONDO:0005939" + "MEDGEN:48410" + "DOID:1334" + "MESH:D012088" + "UMLS:C0035112" + "MeSH:D012088" "ICD9:478.1" "UMLS:C1290325" "SCTID:128272009" @@ -27094,12 +27100,6 @@ "ICD9:478.19" "ICD10:J22" "MEDGEN:712703" - "MONDO:0005939" - "MEDGEN:48410" - "DOID:1334" - "MESH:D012088" - "UMLS:C0035112" - "MeSH:D012088" "SNOMEDCT_US:17920008" "UMLS:C0155773" "EC:3.1.6.12" @@ -27596,14 +27596,14 @@ "PMID:23823483" "Chemspider:65998789" "Orphanet:165707" - "OMIM:605714" - "ICD10:I68.0*" - "ICD10:E85.4+" "OMIM:304110" "MeSH:C536456" "UMLS:C0220767" "ICD10:Q87.1" "PMID:31530798" + "OMIM:605714" + "ICD10:I68.0*" + "ICD10:E85.4+" "UMLS:C1849811" "OMIM:261990" "MeSH:C537398" @@ -27626,10 +27626,10 @@ "GARD:8234" "NORD:1135" "SCTID:57160007" + "PMID:37794183" "MEDGEN:1781649" "OMIM:619229" "UMLS:C5543202" - "PMID:37794183" "NANDO:2200469" "Orphanet:28378" "GARD:3105" @@ -28297,6 +28297,8 @@ "MEDGEN:56320" "ICD9:195.1" "PMID:31020675" + "OMIM:618019" + "PMID:34814699" "SCTID:733086003" "GARD:415" "OMIM:200130" @@ -28304,8 +28306,6 @@ "MESH:C563111" "UMLS:C0796125" "Orphanet:2985" - "OMIM:618019" - "PMID:34814699" "MEDGEN:1626589" "OMIM:617707" "GARD:16246" @@ -28748,6 +28748,10 @@ "ICD9:192" "MEDGEN:99231" "NCIT:C4788" + "UMLS:C2103575" + "NCIt:C113723" + "Wikipedia:Scleromyositis" + "NCIt:C7290" "UMLS:C1858392" "GARD:18179" "MESH:C565780" @@ -28761,7 +28765,6 @@ "Orphanet:2863" "UMLS:C1861448" "MEDGEN:350025" - "NCIt:C7290" "UMLS:C2827512" "NCIt:C84823" "UMLS:C1857527" @@ -28772,9 +28775,6 @@ "UMLS:C5543168" "MEDGEN:1780603" "OMIM:619221" - "UMLS:C2103575" - "NCIt:C113723" - "Wikipedia:Scleromyositis" "DOID:11887" "UMLS:C1336875" "MEDGEN:234457" @@ -28836,11 +28836,11 @@ "MedDRA:10038534" "ICD9:016.00" "SCTID:44323002" + "OMIM:605407" + "ICD10:G24.1" "ISBN-13:978-0632067107" "ISBN-10:0632067101" "ICD10:M72" - "OMIM:605407" - "ICD10:G24.1" "SNOMEDCT:133599002" "ZFA:0009333" "PMID:37794183" @@ -29136,11 +29136,11 @@ "PMID:29875488" "PMID:33634981" "PMID:32641083" + "NCIt:C142287" "MEDGEN:277663" "UMLS:C1336066" "DOID:4334" "NCIT:C7297" - "NCIt:C142287" "DOID:0050426" "NANDO:2201006" "MeSH:D013262" @@ -29528,8 +29528,8 @@ "MEDGEN:724404" "DOID:4920" "SCTID:400173004" - "MeSH:D018173" "PMID:37794183" + "MeSH:D018173" "PMID:28240269" "UMLS:C5680936" "GARD:20640" @@ -29715,9 +29715,9 @@ "SCTID:25904003" "UMLS:C0001169" "NANDO:1200896" - "PMID:29875488" "OMIM:606937" "ICD10:G11.1" + "PMID:29875488" "PMID:37794183" "Orphanet:306734" "GARD:17383" @@ -29919,9 +29919,9 @@ "SNOMEDCT:271062006" "OMIM:606593" "ICD10:D81.1" - "PMID:28240269" "PO:0025022" "SNOMEDCT:12170000" + "PMID:28240269" "MEDGEN:231071" "NCIT:C5376" "DOID:4510" @@ -29993,14 +29993,14 @@ "ICD10:Q87.8" "NCIt:C45837" "Wikipedia:Fructose_1-phosphate" - "MedDRA:10042751" - "ICD10:K22.4" - "MeSH:D015155" - "SNOMEDCT:79962008" "UMLS:C5193008" "DOID:0111845" "MEDGEN:1683985" "OMIM:301022" + "MedDRA:10042751" + "ICD10:K22.4" + "MeSH:D015155" + "SNOMEDCT:79962008" "Wikipedia:New_York_Heart_Association_Functional_Classification" "MONDO:0005257" "OMIM:601127" @@ -30219,30 +30219,31 @@ "DOID:6067" "MEDGEN:235419" "PMID:29875488" - "PMID:35347128" "MESH:D011557" "MONDO:0005932" "UMLS:C0033839" "MeSH:D011557" "DOID:3902" "MEDGEN:18730" + "PMID:35347128" "CAS:147700-11-6" "Beilstein:8153842" "MeSH:C081320" - "UMLS:C0242422" - "SNOMEDCT_US:32798002" "OMIM:312080" "UMLS:C0205711" "MeSH:D020371" "MedDRA:10067610" "OMIM:213900" "ICD10:E75.2" + "UMLS:C0242422" + "SNOMEDCT_US:32798002" "UMLS:C1846357" "DOID:0070117" "GARD:8744" "MESH:C536132" "MEDGEN:335402" "OMIM:607361" + "PMID:29875488" "DOID:14566" "NCIT:C3262" "UMLS:C0027651" @@ -30263,7 +30264,6 @@ "ICD10:C00.D48" "ICD9:239.8" "FBbt:00004959" - "PMID:29875488" "Orphanet:93951" "MONDO:0000552" "DOID:0050938" @@ -30424,7 +30424,6 @@ "GARD:17838" "UMLS:C4225239" "PMID:37794183" - "PMID:37253714" "NCIT:C98880" "UMLS:C0041207" "icd11.foundation:1832500366" @@ -30435,6 +30434,7 @@ "MEDGEN:52867" "NANDO:2200261" "Orphanet:3384" + "PMID:37253714" "PMID:23823483" "CiteXplore:IND86085618" "SNOMEDCT:83672008" @@ -30708,12 +30708,12 @@ "OMIM:609128" "ICD10:Q68.8" "PMID:30659259" + "PMID:28240269" "NCIT:C4055" "UMLS:C0281784" "MEDGEN:129095" "SCTID:724171006" "DOID:4587" - "PMID:28240269" "NCIT:C32205" "EMAPA:35897" "FMA:15928" @@ -30964,8 +30964,8 @@ "UMLS:C2673946" "ICD10:E75.4" "OMIM:600143" - "PMID:33634981" "PMID:28240269" + "PMID:33634981" "PMID:29039415" "MEDGEN:83393" "DOID:3683" @@ -31213,9 +31213,9 @@ "Gmelin:917" "PMID:3712373" "Reaxys:1098352" + "MAT:0000002" "OMIM:601419" "ICD10:G71.8" - "MAT:0000002" "UMLS:C1858712" "OMIM:604187" "MeSH:C537482" @@ -31434,15 +31434,15 @@ "MEDGEN:376521" "Orphanet:100986" "HMDB:0041785" + "MEDGEN:1842770" + "Orphanet:1132" + "GARD:741" + "UMLS:C5680872" "NCIt:C29484" "PMID:815725" "MeSH:D010289" "MedDRA:10044107" "SNOMEDCT:225372007" - "MEDGEN:1842770" - "Orphanet:1132" - "GARD:741" - "UMLS:C5680872" "SCTID:47841006" "NCIT:C34837" "MEDGEN:6527" @@ -31741,12 +31741,12 @@ "RRID:CVCL_0559" "OMIM:612934" "ICD10:E74.0" + "PMID:29875488" "UMLS:C0175692" "MeSH:C535880" "MedDRA:10074947" "OMIM:243800" "ICD10:Q87.8" - "PMID:29875488" "UMLS:C5394674" "Orphanet:329173" "GARD:17494" @@ -32187,6 +32187,13 @@ "UMLS:C3496579" "MedDRA:10074712" "Wikipedia:Innate_immune_system" + "NCIT:C102872" + "SCTID:408649007" + "UMLS:C1319317" + "EFO:1001965" + "MEDGEN:728086" + "MONDO:0000536" + "DOID:0050921" "DECIPHER:7" "NANDO:2200955" "UMLS:C0035934" @@ -32211,13 +32218,6 @@ "MeSH:D011198" "SNOMEDCT_US:21321009" "UMLS:C0266362" - "NCIT:C102872" - "SCTID:408649007" - "UMLS:C1319317" - "EFO:1001965" - "MEDGEN:728086" - "MONDO:0000536" - "DOID:0050921" "PMID:37794183" "ZFA:0009017" "NCIt:C13014" @@ -32343,6 +32343,8 @@ "MEDGEN:1646677" "DOID:0111920" "MedDRA:10082578" + "OMIM:272460" + "ICD10:Q76.4" "EFO:0007458" "ICD10:C34.1" "ICD10:C34.2" @@ -32364,8 +32366,6 @@ "Reaxys:5728855" "HMDB:HMDB0000407" "PMID:35347128" - "OMIM:272460" - "ICD10:Q76.4" "PMID:37794183" "PMID:37253714" "UMLS:C4021975" @@ -32401,6 +32401,15 @@ "UMLS:C1860168" "SNOMEDCT:56077000" "NCIt:C86921" + "Orphanet:1658" + "icd11.foundation:1298640608" + "OMIM:129200" + "UMLS:C0406707" + "MEDGEN:140808" + "DOID:0080725" + "MESH:C537659" + "SCTID:239011004" + "GARD:2336" "Wikipedia:Nimesulide" "LINCS:LSM-3718" "Drug_Central:1935" @@ -32412,15 +32421,6 @@ "DrugBank:DB04743" "Reaxys:2421175" "CAS:51803-78-2" - "Orphanet:1658" - "icd11.foundation:1298640608" - "OMIM:129200" - "UMLS:C0406707" - "MEDGEN:140808" - "DOID:0080725" - "MESH:C537659" - "SCTID:239011004" - "GARD:2336" "MONDO:0004981" "SCTID:49436004" "MESH:D001281" @@ -32692,11 +32692,11 @@ "GARD:19124" "MEDGEN:1669448" "PMID:18464913" - "PMID:19748469" "MEDGEN:275548" "DOID:6936" "NCIT:C6160" "UMLS:C1519823" + "PMID:19748469" "OMIM:300489" "MeSH:D055534" "ICD10:G12.2" @@ -32733,12 +32733,6 @@ "Orphanet:100988" "OMIM:614039" "ICD10:Q04.3" - "GARD:19243" - "Orphanet:93958" - "UMLS:C2242577" - "MEDGEN:473560" - "icd11.foundation:749381409" - "DOID:0050843" "BTO:0001748" "GARD:4619" "MEDGEN:141708" @@ -32751,6 +32745,12 @@ "NCIT:C98943" "MESH:C563004" "NORD:1276" + "GARD:19243" + "Orphanet:93958" + "UMLS:C2242577" + "MEDGEN:473560" + "icd11.foundation:749381409" + "DOID:0050843" "NIFSTD:birnlex_2117" "Orphanet:158029" "UMLS:C0036489" @@ -33014,8 +33014,8 @@ "GARD:17645" "UMLS:C4022001" "PMID:29875488" - "PMID:33634981" "OMIM:600989" + "PMID:33634981" "RRID:CVCL_D581" "BTO:0005242" "ZFA:0009082" @@ -33156,9 +33156,9 @@ "MONDO:0006566" "DOID:161" "PMID:29875488" + "PMID:32641083" "UMLS:C2698870" "NCIt:C74619" - "PMID:32641083" "MEDGEN:1781858" "Orphanet:439849" "NCIT:C176624" @@ -33817,10 +33817,6 @@ "PMID:24816252" "UMLS:C1834013" "OMIM:164330" - "UMLS:C0266539" - "MEDGEN:75616" - "GARD:1159" - "Orphanet:98994" "OMIM:615266" "OMIM:228300" "OMIM:614858" @@ -33841,6 +33837,10 @@ "OMIM:614838" "OMIM:615270" "OMIM:614841" + "UMLS:C0266539" + "MEDGEN:75616" + "GARD:1159" + "Orphanet:98994" "GARD:18499" "MEDGEN:1724427" "OMIM:619011" @@ -33984,14 +33984,14 @@ "MEDGEN:541361" "UMLS:C0030486" "SNOMEDCT_US:60389000" + "OMIM:261750" + "ICD10:E74.0" "NCIt:C48505" "MO:444" "SNOMEDCT:420559008" "SNOMEDCT:258770004" "SNOMEDCT:420744004" "SNOMEDCT:420296000" - "OMIM:261750" - "ICD10:E74.0" "CALOHA:TS-2099" "FMA:70339" "ZFA:0009356" @@ -34436,14 +34436,6 @@ "MedDRA:10072058" "PMID:30808845" "PMID:28240269" - "NCIT:C128415" - "MESH:D018088" - "MONDO:0005861" - "SCTID:423092005" - "UMLS:C0206526" - "MEDGEN:60163" - "MeSH:D018088" - "DOID:401" "PMID:37794183" "ZFA:0000200" "NIFSTD:birnlex_2596" @@ -34458,6 +34450,14 @@ "EMAPA:16668" "MAT:0000162" "Orphanet:68334" + "NCIT:C128415" + "MESH:D018088" + "MONDO:0005861" + "SCTID:423092005" + "UMLS:C0206526" + "MEDGEN:60163" + "MeSH:D018088" + "DOID:401" "SCTID:718610008" "MEDGEN:1780208" "GARD:10704" @@ -34750,12 +34750,12 @@ "OMIM:300844" "GARD:22687" "MESH:C563141" - "PMID:29875488" "MESH:C567097" "UMLS:C2673266" "GARD:10289" "MEDGEN:392873" "OMIM:611722" + "PMID:29875488" "PMID:37794183" "PMID:29875488" "PMID:29875488" @@ -34970,13 +34970,6 @@ "UMLS:C0520739" "SNOMEDCT_US:9434008" "RRID:CVCL_2610" - "MeSH:D053632" - "OMIM:312863" - "MONDO:0010730" - "SNOMEDCT:203592006" - "NCIt:C4682" - "DOID:60013" - "MedDRA:10083916" "NCIT:C61420" "MEDGEN:9075" "MESH:D006059" @@ -34985,6 +34978,13 @@ "ICD9:758.6" "DOID:14447" "SCTID:205681004" + "MeSH:D053632" + "OMIM:312863" + "MONDO:0010730" + "SNOMEDCT:203592006" + "NCIt:C4682" + "DOID:60013" + "MedDRA:10083916" "PMID:26068415" "PMID:24816252" "PMID:19161266" @@ -35045,13 +35045,13 @@ "RRID:CVCL_E939" "BTO:0006282" "PMID:25344690" + "ATC_code:N" "Orphanet:98428" "NCIT:C27178" "MEDGEN:231144" "UMLS:C1318533" "GARD:19467" "MedDRA:10036062" - "ATC_code:N" "PMID:29875488" "MEDGEN:928803" "UMLS:C4303134" @@ -35114,13 +35114,13 @@ "DOID:11372" "SNOMEDCT:33995003" "PMID:29875488" - "UMLS:C4022919" "MESH:C537364" "UMLS:C1855788" "OMIM:242510" "MEDGEN:344577" "Orphanet:2269" "GARD:292" + "UMLS:C4022919" "NIF_Subcellular:sao-593830697" "FMA:62983" "Wikipedia:Myelin" @@ -35200,14 +35200,14 @@ "PMID:9540973" "OMIM:603438" "PMID:29875488" + "OMIM:141350" + "ICD10:Q67.4" "UMLS:C1837564" "GARD:17583" "Orphanet:364577" "OMIM:608670" "MEDGEN:325196" "MESH:C563880" - "OMIM:141350" - "ICD10:Q67.4" "PMID:37794183" "MedDRA:10070179" "ICD10:N04.1" @@ -35425,18 +35425,18 @@ "GARD:17375" "Orphanet:300573" "DOID:0090132" - "SNOMEDCT:85670002" - "NCIt:C35772" - "MedDRA:10047628" - "MeSH:D001361" - "ICD10:E56" - "NCIt:C34406" "SCTID:764461004" "GARD:19302" "UMLS:C2931794" "Orphanet:96063" "MESH:C538292" "MEDGEN:419163" + "SNOMEDCT:85670002" + "NCIt:C35772" + "MedDRA:10047628" + "MeSH:D001361" + "ICD10:E56" + "NCIt:C34406" "NCIT:C4277" "ICDO:9041/3" "DOID:5487" @@ -35625,7 +35625,6 @@ "MEDGEN:2853" "NCIT:C2932" "UMLS:C0007279" - "PMID:35668104" "MEDGEN:146159" "DOID:1294" "SCTID:447882007" @@ -35641,6 +35640,7 @@ "MetaCyc:HEXANOATE" "CAS:151-33-7" "Beilstein:3601453" + "PMID:35668104" "PMID:20543846" "SNOMEDCT:23684001" "CAS:485-49-4" @@ -36038,6 +36038,7 @@ "Orphanet:1460" "DOID:0111139" "MEDGEN:377658" + "MedDRA:10061137" "OMIM:617253" "OMIM:606744" "OMIM:616777" @@ -36052,7 +36053,6 @@ "OMIM:614728" "OMIM:616171" "OMIM:600546" - "MedDRA:10061137" "OMIM:613076" "ICD10:G71.3" "Orphanet:500481" @@ -36111,8 +36111,8 @@ "MEDGEN:1674241" "GARD:21486" "Orphanet:329249" - "PMID:35347128" "Fyler:4013" + "PMID:35347128" "PMID:24816252" "Orphanet:261911" "GARD:1346" @@ -36452,8 +36452,8 @@ "Orphanet:2732" "GARD:4070" "UMLS:C4275113" - "PMID:29875488" "PMID:33067605" + "PMID:29875488" "RRID:CVCL_2091" "BTO:0004137" "PMID:24816252" @@ -36474,13 +36474,13 @@ "MEDGEN:1648456" "GARD:18446" "OMIM:617591" - "NCIt:C33064" "NCIT:C4373" "MONDO:0006224" "MEDGEN:90961" "SCTID:235685007" "NCIt:C4373" "UMLS:C0341225" + "NCIt:C33064" "DOID:0060326" "HP:0002475" "GARD:3475" @@ -36707,6 +36707,7 @@ "SNOMEDCT:258723000" "NCIt:C68855" "MO:977" + "UMLS:C1518263" "EMAPA:17171" "EHDAA:4763" "EHDAA2:0001253" @@ -36721,7 +36722,6 @@ "EMAPA:18590" "BTO:0000929" "ZFA:0000046" - "UMLS:C1518263" "BTO:0000750" "MAT:0000517" "PO:0009072" @@ -36731,7 +36731,6 @@ "UMLS:C1514608" "FMA:3786" "PMID:35347128" - "OMIM:604314" "KEGG COMPOUND:C03149" "UMLS:C0232939" "SNOMEDCT_US:8913004" @@ -36741,10 +36740,10 @@ "DOID:2930" "MONDO:0005660" "MeSH:D045463" + "OMIM:604314" "OMIM:300607" "OMIM:300423" "OMIM:300088" - "MeSH:D017541" "BTO:0001972" "Orphanet:293202" "UMLS:C0205944" @@ -36765,6 +36764,7 @@ "SNOMEDCT_US:26996000" "MEDDRA:10020649" "UMLS:C0870082" + "MeSH:D017541" "PMID:37794183" "OMIM:615285" "MEDGEN:1645733" @@ -36945,11 +36945,11 @@ "PMID:29875488" "ZFA:0000124" "TAO:0000124" - "NCIT:C34277" "EMAPA:16847" + "NCIT:C34277" "EHDAA2:0000744" - "BTO:0003391" "AAO:0011058" + "BTO:0003391" "XAO:0003266" "EFO:0002577" "UMLS:C1514451" @@ -37262,10 +37262,10 @@ "NCIt:C12478" "ICD10:G60.0" "OMIM:608591" - "PMID:28240269" "CLO:0008207" "RRID:CVCL_3407" "BTO:0000946" + "PMID:28240269" "MESH:C536796" "MEDGEN:419045" "NORD:949" @@ -37367,12 +37367,12 @@ "MEDGEN:233174" "UMLS:C1334681" "ICD10:N46" + "NCIt:C18276" "DOID:0111655" "Orphanet:69084" "UMLS:C1865951" "MEDGEN:400883" "GARD:16680" - "NCIt:C18276" "PMID:30070759" "PMID:24816252" "Orphanet:247794" @@ -37573,8 +37573,8 @@ "UMLS:C0033575" "DOID:47" "MESH:D011469" - "NCIT:C26865" "SCTID:30281009" + "NCIT:C26865" "MONDO:0003105" "https://en.wikipedia.org/wiki/Xanthomonas" "DOID:4164" @@ -37692,13 +37692,13 @@ "DOID:3587" "https://cellxgene.cziscience.com/cellguide/CL_1001431" "KUPO:0001128" - "ICD10:Q69.2" "OMIM:613977" "MEDGEN:462771" "UMLS:C3151421" "NCIT:C27274" "UMLS:C1335471" "MEDGEN:233342" + "ICD10:Q69.2" "UMLS:C0022797" "NANDO:2201244" "SCTID:62009002" @@ -37782,6 +37782,8 @@ "DOID:0111336" "GARD:1571" "OMIM:122880" + "ICD10:Q93.5" + "PMID:29875488" "RRID:CVCL_3566" "CLO:0008424" "GARD:6377" @@ -37791,8 +37793,6 @@ "UMLS:C0014805" "OMIM:133020" "MEDGEN:8688" - "ICD10:Q93.5" - "PMID:29875488" "UMLS:C4023171" "MESH:C537396" "UMLS:C1328349" @@ -37810,8 +37810,8 @@ "ICD10:G23" "DOID:679" "MESH:D001480" - "MONDO:0003996" "ICD9:333.0" + "MONDO:0003996" "MEDGEN:1619147" "MeSH:D001480" "ICD10:E71.3" @@ -38261,6 +38261,13 @@ "MEDGEN:8179" "UMLS:C0003742" "MESH:D001112" + "DOID:3039" + "UMLS:C1332866" + "SCTID:413446001" + "EFO:1000020" + "MONDO:0006028" + "MEDGEN:234098" + "NCIT:C5543" "SCTID:446643000" "Orphanet:86903" "DOID:7849" @@ -38269,13 +38276,6 @@ "UMLS:C1301364" "NCIT:C27260" "MEDGEN:226984" - "DOID:3039" - "UMLS:C1332866" - "SCTID:413446001" - "EFO:1000020" - "MONDO:0006028" - "MEDGEN:234098" - "NCIT:C5543" "MeSH:D016360" "NCIt:C76276" "SNOMEDCT:5933001" @@ -39172,12 +39172,12 @@ "MESH:D011843" "PMID:29875488" "MCC:0000105" - "OMIM:610532" - "ICD10:G37.8" "MEDGEN:124526" "NCIT:C9091" "DOID:4813" "UMLS:C0278873" + "OMIM:610532" + "ICD10:G37.8" " CLO:0051042" " CLO:0051043" "RRID:CVCL_0119" @@ -39781,6 +39781,7 @@ "DOID:9741" "MONDO:0004868" "PMID:26068415" + "PMID:29875488" "GARD:5620" "OMIM:603592" "Orphanet:93602" @@ -39790,7 +39791,6 @@ "MESH:C566358" "MEDGEN:1682592" "UMLS:C5193002" - "PMID:29875488" "ICD10:G70.2" "Wikipedia:Dental_fear" "UMLS:C0085380" @@ -39850,6 +39850,10 @@ "icd11.foundation:424903269" "UMLS:C2750804" "GARD:17140" + "NCIT:C35318" + "UMLS:C0264995" + "MEDGEN:78117" + "PMID:37794183" "NCIt:C87175" "MedDRA:10019161" "MedDRA:10009259" @@ -39863,10 +39867,6 @@ "MedDRA:10009267" "DOID:9296" "MedDRA:10009265" - "NCIT:C35318" - "UMLS:C0264995" - "MEDGEN:78117" - "PMID:37794183" "MEDGEN:1805655" "UMLS:C5676889" "OMIM:605711" @@ -40201,7 +40201,6 @@ "MESH:C536938" "MEDGEN:419062" "GARD:5403" - "UMLS:C4025046" "NCIT:C84535" "OMIM:606752" "MeSH:D004684" @@ -40214,6 +40213,7 @@ "MONDO:0011716" "ICD9:136.9" "UMLS:C0014077" + "UMLS:C4025046" "PMID:25323333" "KEGG:C02225" "GARD:9447" @@ -40462,6 +40462,7 @@ "UMLS:C5680280" "Orphanet:93425" "GARD:19190" + "NCIt:C121331" "DOID:0060728" "OMIM:615273" "NORD:1919" @@ -40474,7 +40475,6 @@ "ZFA:0000996" "MA:0003192" "TAO:0000996" - "NCIt:C121331" "PMID:37794183" "MESH:C563463" "MEDGEN:318896" @@ -40944,7 +40944,6 @@ "OMIM:601165" "ICD10:Q87.8" "PMID:31015401" - "EMAPA:17414" "galen:Elbow" "SCTID:76248009" "EHDAA2:0000429" @@ -40958,6 +40957,7 @@ "MA:0000036" "EHDAA:4166" "FMA:24901" + "EMAPA:17414" "UMLS:C1849152" "icd11.foundation:1286493807" "OMIM:200990" @@ -41941,7 +41941,6 @@ "GARD:16760" "MEDGEN:390802" "PMID:29875488" - "PMID:34814699" "MEDGEN:64439" "UMLS:C0205770" "MESH:D020288" @@ -41956,6 +41955,7 @@ "MedDRA:10008777" "GARD:4214" "NANDO:2200093" + "PMID:34814699" "NANDO:2200602" "SCTID:398036000" "MEDGEN:152875" @@ -42231,9 +42231,9 @@ "AAO:0010610" "GAID:343" "NCIT:C12724" - "PMID:35888748" "DOID:4378" "MeSH:D021183" + "PMID:35888748" "UMLS:C1535926" "MESH:D065886" "MedGen:C1535926" @@ -42325,8 +42325,6 @@ "GARD:5395" "Orphanet:3406" "UMLS:C4021798" - "ICD10:E83.4" - "OMIM:154020" "MEDGEN:1711370" "OMIM:618808" "UMLS:C5394135" @@ -42335,6 +42333,8 @@ "UMLS:C5680648" "Orphanet:157716" "icd11.foundation:1635638032" + "ICD10:E83.4" + "OMIM:154020" "UMLS:C0553730" "SNOMEDCT_US:201637001" "SNOMEDCT_US:239838005" @@ -42342,12 +42342,12 @@ "BTO:0002417" "MESH:D006377" "SNOMEDCT:29594005" + "ICD10:Q87.8" + "OMIM:611812" "NCIT:C6284" "UMLS:C1332606" "MEDGEN:231457" "DOID:2127" - "ICD10:Q87.8" - "OMIM:611812" "NCIT:C35501" "MEDGEN:438070" "UMLS:C2703042" @@ -42770,6 +42770,7 @@ "MEDGEN:335283" "SNOMEDCT_US:3006004" "UMLS:C0234428" + "NCIt:C39944" "Orphanet:2745" "DOID:0080697" "OMIMPS:300000" @@ -42778,7 +42779,6 @@ "DOID:0050780" "ICD9:758.89" "SCTID:81771002" - "NCIt:C39944" "OMIM:184840" "UMLS:C1848488" "Orphanet:3450" @@ -43013,12 +43013,12 @@ "NCIt:C4510" "PMID:35347128" "PMID:29875488" - "UMLS:C0221209" - "SNOMEDCT_US:56108007" "UMLS:C2752062" "MEDGEN:414549" "OMIM:612899" "DOID:0111322" + "UMLS:C0221209" + "SNOMEDCT_US:56108007" "GARD:10731" "MESH:C564038" "HGNC:12811" @@ -43365,16 +43365,16 @@ "OMIM:617166" "OMIM:617276" "OMIM:618437" + "OMIM:309610" "PMID:29875488" + "ICD10:E75.2" + "UMLS:C0751917" "SCTID:126970001" "MEDGEN:226811" "NCIT:C5825" "UMLS:C1263896" "DOID:3421" "ICD9:239.7" - "OMIM:309610" - "ICD10:E75.2" - "UMLS:C0751917" "UMLS:C0151747" "MONDO:0021568" "ICD9:588.89" @@ -43392,8 +43392,8 @@ "MA:0000429" "EHDAA:4987" "UMLS:C1261074" - "FMA:7333" "NCIT:C33023" + "FMA:7333" "EHDAA2:0001747" "EMAPA:17991" "galen:UpperLobeOfRightLung" @@ -43432,6 +43432,7 @@ "SCTID:29740003" "ICD10CM:E41" "MedDRA:10026820" + "PMID:29875488" "MEDGEN:87280" "MONDO:0003311" "SNOMEDCT:68738004" @@ -43441,7 +43442,6 @@ "ICD9:239.5" "UMLS:C0334695" "SCTID:446887007" - "PMID:29875488" "PMID:14559825" "FBbt:00015256" "NCIt:C67357" @@ -43573,9 +43573,9 @@ "NCIT:C4274" "MEDGEN:87254" "ICDO:9020/0" - "PMID:24816252" "RRID:CVCL_0839" "BTO:0002260" + "PMID:24816252" "CAS:7440-43-9" "WebElements:Cd" "SNOMEDCT:66586000" @@ -43609,8 +43609,8 @@ "Wikipedia:Leg#Limb" "EMAPA:17489" "BTO:0000721" - "MESH:D035002" "EHDAA:5151" + "MESH:D035002" "VHOG:0000345" "UMLS:C3552553" "MEDGEN:765467" @@ -43761,6 +43761,14 @@ "UMLS:C3887499" "PMID:35154085" "NCIt:C48668" + "MEDGEN:61446" + "NCIT:C3696" + "DOID:5077" + "SCTID:449799008" + "Orphanet:251618" + "UMLS:C0205768" + "GARD:10632" + "ICDO:9384/1" "KEGG:C00026" "CAS:64-15-3" "PMID:17190852" @@ -43774,14 +43782,6 @@ "PMID:21196226" "Gmelin:602479" "PMID:19376872" - "MEDGEN:61446" - "NCIT:C3696" - "DOID:5077" - "SCTID:449799008" - "Orphanet:251618" - "UMLS:C0205768" - "GARD:10632" - "ICDO:9384/1" "Wikipedia:High-content_screening" "ERO:0001655" "PMID:25456834" @@ -44048,11 +44048,11 @@ "MEDGEN:140899" "SNOMEDCT:250978003" "HP:0004380" - "PMID:28240269" "OMIM:616482" "UMLS:C2674173" "OMIM:187600" "ICD10:Q77.4" + "PMID:28240269" "PMID:36168886" "NCIt:C106048" "MeSH:D047369" @@ -44090,12 +44090,9 @@ "SNOMEDCT_US:398309008" "UMLS:C1301937" "UMLS:C3552713" - "OMIM:309510" "OMIM:620762" + "OMIM:309510" "NCIt:C3970" - "UMLS:C1879362" - "SNOMEDCT_US:56595005" - "PMID:29875488" "OMIM:610758" "OMIM:610756" "UMLS:C2931277" @@ -44105,6 +44102,9 @@ "OMIM:616570" "UMLS:C0220722" "OMIM:214150" + "PMID:29875488" + "UMLS:C1879362" + "SNOMEDCT_US:56595005" "PMID:35347128" "Wikipedia:Type_II_hypersensitivity" "NCIt:C114345" @@ -44462,9 +44462,9 @@ "BTO:0002975" "CLO:0001566" "SNOMEDCT:389221003" - "PMID:37794183" "OMIM:201400" "ICD10:E23.6" + "PMID:37794183" "Orphanet:435998" "GARD:17723" "MEDGEN:1800450" @@ -44699,8 +44699,8 @@ "DOID:0070474" "OMIM:617672" "MEDGEN:1626007" - "GARD:13658" "UMLS:C4540086" + "GARD:13658" "UMLS:C0024904" "SNOMEDCT_US:52404001" "NCIT:C35212" @@ -44929,10 +44929,6 @@ "UMLS:C0206754" "GARD:9316" "SCTID:255046005" - "MEDGEN:231065" - "UMLS:C1332276" - "NCIT:C5610" - "DOID:4066" "NORD:1843" "Orphanet:3344" "icd11.foundation:180927608" @@ -44942,6 +44938,10 @@ "SCTID:715532007" "MESH:C537082" "GARD:5232" + "MEDGEN:231065" + "UMLS:C1332276" + "NCIT:C5610" + "DOID:4066" "MEDGEN:437845" "UMLS:C2699746" "NCIT:C75003" @@ -45115,9 +45115,9 @@ "MEDGEN:482719" "UMLS:C3281089" "GARD:15814" + "PMID:29875488" "Orphanet:100980" "UMLS:CN226594" - "PMID:29875488" "DOID:7867" "UMLS:C1370504" "NCIT:C5792" @@ -45137,12 +45137,6 @@ "OMIM:609698" "UMLS:C5676891" "PMID:36168886" - "DOID:0110637" - "MESH:C563844" - "UMLS:C1837229" - "MEDGEN:373284" - "OMIM:608840" - "Orphanet:98894" "MeSH:C010654" "CiteXplore:21475142" "CiteXplore:22179423" @@ -45175,6 +45169,12 @@ "CiteXplore:21146475" "CiteXplore:19686710" "PMID:19041301" + "DOID:0110637" + "MESH:C563844" + "UMLS:C1837229" + "MEDGEN:373284" + "OMIM:608840" + "Orphanet:98894" "UMLS:C1970028" "OMIM:611162" "MONDO:0021024" @@ -45686,14 +45686,14 @@ "UMLS:C5677019" "MEDGEN:1804308" "KEGG COMPOUND:C18606" - "CLO:0003587" - "BTO:0003277" - "RRID:CVCL_4210" "UMLS:C4310641" "OMIM:617270" "GARD:13361" "DOID:0081220" "MEDGEN:934608" + "CLO:0003587" + "BTO:0003277" + "RRID:CVCL_4210" "ICD9:372.30" "MedDRA:10010741" "MESH:D003231" @@ -45709,8 +45709,8 @@ "ICD9:372.39" "NCIT:C34504" "UMLS:C0003723" - "MEDGEN:389" "DOID:934" + "MEDGEN:389" "MESH:D001102" "NCIT:C34396" "MONDO:0020731" @@ -45868,10 +45868,10 @@ "MAT:0000494" "MA:0000118" "EMAPA:18427" - "PMID:29875488" "UMLS:C1261128" "OMIM:176690" "MeSH:C536422" + "PMID:29875488" "GARD:21349" "UMLS:C5681033" "Orphanet:309824" @@ -45961,6 +45961,9 @@ "DOID:11387" "UMLS:C0270629" "MONDO:0005752" + "PMID:36959364" + "MeSH:D045826" + "DOID:50364" "KEGG COMPOUND:C19458" "MEDGEN:354548" "UMLS:C1720956" @@ -45974,16 +45977,14 @@ "GARD:21580" "UMLS:C5191050" "MEDGEN:1680592" - "MeSH:D045826" - "DOID:50364" "PMID:28240269" "UMLS:C0344622" "ICD-10:Q20.4" "SNOMEDCT_US:253283000" "EPCC:01.04.04" - "PMID:35347128" "MeSH:C562710" "SNOMEDCT:9859006" + "PMID:35347128" "MedDRA:10062499" "DOID:3122" "MeSH:D017219" @@ -46016,8 +46017,8 @@ "EFO:0003054" "UMLS:C0040184" "NCIT:C12800" - "Wikipedia:Tibia" "EMAPA:19142" + "Wikipedia:Tibia" "FMA:24476" "BTO:0001252" "GAID:204" @@ -46152,10 +46153,10 @@ "DOID:0112129" "GARD:17698" "OMIM:617014" - "ICD10:R93" "PMID:37794183" "UMLS:C0748283" "NCIt:C123170" + "ICD10:R93" "ZFA:0000813" "PMID:23823483" "ERO:0001686" @@ -46170,6 +46171,7 @@ "SCTID:302874002" "OMIM:153880" "ICD10:H35.5" + "MO:626" "icd11.foundation:1329172977" "MEDGEN:6510" "MONDO:0006313" @@ -46179,7 +46181,6 @@ "UMLS:C0027269" "SCTID:24565001" "PMID:26068415" - "MO:626" "Orphanet:3231" "PMID:35668104" "MEDGEN:481346" @@ -46616,7 +46617,6 @@ "MESH:C564773" "icd11.foundation:1284518024" "GARD:10612" - "KEGG COMPOUND:C14179" "DOID:0112320" "UMLS:C5437471" "NANDO:1200137" @@ -46625,6 +46625,7 @@ "GARD:3903" "MEDGEN:1772900" "Orphanet:79281" + "KEGG COMPOUND:C14179" "DOID:9446" "ICD9:576.1" "SNOMEDCT:82403002" @@ -47531,8 +47532,8 @@ "EHDAA:5153" "BTO:0001457" "EMAPA:17490" - "MA:0000045" "galen:Hip" + "MA:0000045" "EFO:0001929" "SCTID:302543008" "EHDAA:6178" @@ -48819,8 +48820,8 @@ "NCIt:C48579" "SNOMEDCT:258997004" "MO:1011" - "PMID:31015401" "PMID:26379185" + "PMID:31015401" "OMIM:604370" "GARD:12351" "UMLS:C2676676" @@ -48911,9 +48912,9 @@ "NANDO:1200710" "NANDO:2200664" "NANDO:2200657" + "PMID:26116762" "UMLS:C0423848" "SNOMEDCT_US:95339000" - "PMID:26116762" "MEDGEN:569676" "SCTID:403981003" "Orphanet:157791" @@ -48929,6 +48930,12 @@ "ONCOTREE:EHAE" "ICDO:9130/3" "MeSH:D048188" + "Orphanet:386" + "UMLS:C1333971" + "MEDGEN:232278" + "GARD:2651" + "NCIT:C5751" + "SCTID:715397000" "PMID:8965250" "KEGG:C01897" "PMID:23344961" @@ -48950,12 +48957,6 @@ "UMLS:C1334699" "DOID:3350" "NCIT:C7059" - "Orphanet:386" - "UMLS:C1333971" - "MEDGEN:232278" - "GARD:2651" - "NCIT:C5751" - "SCTID:715397000" "SNOMEDCT:258794004" "PMID:25935106" "MONDO:0006514" @@ -49024,8 +49025,8 @@ "MONDO:0006799" "EFO:1000979" "MESH:D007029" - "UMLS:C1847762" "PMID:38565889" + "UMLS:C1847762" "MEDGEN:349899" "MESH:C566033" "NORD:1789" @@ -49282,10 +49283,10 @@ "UMLS:C4280482" "UMLS:C1837402" "Wikipedia:Catecholamines" - "ICD10:G71.2" "Wikipedia:Pectobacterium_carotovorum" "NCIm:C0085485" "MONDO:0005122" + "ICD10:G71.2" "MEDGEN:1677937" "GARD:21656" "Orphanet:399103" @@ -49386,10 +49387,10 @@ "RRID:CVCL_1259" "BTO:0005368" "CLO:0003647" - "MeSH:C537851" - "UMLS:C1859083" "PMID:23852452" "UMLS:C1851897" + "MeSH:C537851" + "UMLS:C1859083" "PMID:34610981" "PMID:31015401" "MeSH:D013298" @@ -49485,11 +49486,6 @@ "UMLS:C1332848" "NCIT:C5364" "OMIM:614037" - "GARD:16425" - "UMLS:C5436882" - "OMIM:619133" - "MEDGEN:1771903" - "DOID:0081380" "ORDO:Orphanet_83467" "Wikipedia:Morvan%27s_syndrome" "SCTID:763803004" @@ -49499,6 +49495,11 @@ "UMLS:C3854373" "MedDRA:10075006" "MEDGEN:1632829" + "GARD:16425" + "UMLS:C5436882" + "OMIM:619133" + "MEDGEN:1771903" + "DOID:0081380" "OMIM:617711" "MeSH:D013036" "DOID:2481" @@ -49532,13 +49533,13 @@ "UMLS:C0001342" "ICD9:523.33" "SNOMEDCT:5638008" - "PMID:29875488" "MEDGEN:234233" "UMLS:C1333466" "NCIT:C5341" "DOID:1114" "UMLS:CN197468" "Orphanet:101936" + "PMID:29875488" "PMID:35668104" "http://orcid.org/0000-0003-4183-8865" "MEDGEN:543352" @@ -49905,8 +49906,8 @@ "MEDGEN:2871" "DOID:4926" "PMID:29875488" - "OMIM:618702" "Orphanet:108959" + "OMIM:618702" "OMIM:609579" "GARD:3426" "MEDGEN:355365" @@ -50519,8 +50520,8 @@ "NCIt:C14202" "MeSH:D004330" "PMID:29875488" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03097&Product=CC" "UMLS:C2931024" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03097&Product=CC" "DOID:5861" "UMLS:C0334551" "MEDGEN:87262" @@ -50609,8 +50610,8 @@ "UMLS:C1711262" "NCIT:C43630" "EMAPA:37599" - "PMID:24816252" "ZFA:0001133" + "PMID:24816252" "ICD10:Q23" "GARD:1495" "MEDGEN:1842184" @@ -50650,7 +50651,6 @@ "Orphanet:101071" "GARD:19777" "UMLS:C5681804" - "PMID:37794183" "OMIM:146200" "MeSH:C537156" "OMIM:307700" @@ -50658,6 +50658,7 @@ "OMIM:615361" "ICD10:E20.8" "OMIM:601198" + "PMID:37794183" "MONDO:0006823" "MedDRA:10023463" "NANDO:2200386" @@ -50779,8 +50780,6 @@ "PMID:35995766" "Orphanet:485382" "OMIM:618723" - "UMLS:C1333977" - "NCIt:C27687" "ICD10CM:J36" "SCTID:15033003" "UMLS:C0031157" @@ -50806,6 +50805,8 @@ "EMAPA:32837" "BAMS:SA" "BM:Tel-Spt" + "UMLS:C1333977" + "NCIt:C27687" "GARD:117" "UMLS:C0265227" "ICD9:759.89" @@ -50875,26 +50876,26 @@ "NCIT:C100093" "UMLS:C1696109" "PMID:29875488" - "PMID:24816252" "ICD9:191.2" "UMLS:C0153636" "MEDGEN:509347" "DOID:2135" "SCTID:363468009" "ICD10CM:C71.2" - "PMID:31015401" + "PMID:24816252" "NCIT:C6187" "MEDGEN:277591" "DOID:6118" "UMLS:C1335751" "UMLS:C3279222" - "PMID:26417704" + "PMID:31015401" "DOID:0081431" "MEDGEN:1613834" "Orphanet:572773" "OMIM:617604" "GARD:18655" "UMLS:C4539873" + "PMID:26417704" "MeSH:D016158" "MEDGEN:1748867" "GARD:18570" @@ -51097,14 +51098,14 @@ "NCIT:C7688" "MEDGEN:235231" "ICD10:Q99.8" - "SNOMEDCT:372823004" - "SNOMEDCT:69431002" - "MeSH:D007166" - "NCIt:C574" "Orphanet:2325" "GARD:18766" "MEDGEN:609450" "UMLS:C0432313" + "SNOMEDCT:372823004" + "SNOMEDCT:69431002" + "MeSH:D007166" + "NCIt:C574" "PMID:29875488" "Orphanet:93436" "UMLS:C4736195" @@ -51114,11 +51115,11 @@ "Orphanet:98586" "NCIT:C152302" "RRID:CVCL_S599" - "PMID:33204752" "PMID:36168886" "UMLS:C5676935" "OMIM:619781" "MEDGEN:1806812" + "PMID:33204752" "Orphanet:306750" "NCIT:C6835" "EFO:1000455" @@ -51166,6 +51167,8 @@ "OMIM:616606" "Orphanet:1440" "MESH:C535487" + "KEGG COMPOUND:C02341" + "HMDB:0000958" "HP:0007964" "Orphanet:98670" "SCTID:247182006" @@ -51173,8 +51176,6 @@ "GARD:5506" "UMLS:C0344290" "MEDGEN:87480" - "KEGG COMPOUND:C02341" - "HMDB:0000958" "PMID:29875488" "FMA:49179" "galen:LowerGastrointestinalTract" @@ -52334,12 +52335,12 @@ "DOID:0110298" "OMIM:613158" "UMLS:C3150418" - "PMID:35347128" "MONDO:0005755" "MESH:D004859" "MeSH:D004859" "NCIT:C84694" "DOID:5002" + "PMID:35347128" "Orphanet:502430" "MEDGEN:1799530" "GARD:22047" @@ -52897,6 +52898,8 @@ "ChEMBL:102753" "Chemspider:1634" "Beilstein:8134396" + "OMIM:614706" + "ICD10:E75.4" "PMID:37794183" "Orphanet:609" "DOID:0111078" @@ -52905,8 +52908,6 @@ "UMLS:C1838244" "GARD:13154" "SCTID:698846009" - "OMIM:614706" - "ICD10:E75.4" "Orphanet:139036" "UMLS:C1844505" "ICD10:E77.8" @@ -53077,8 +53078,8 @@ "DOID:0110520" "MESH:C563417" "PMID:29875488" - "ICD10:E23.0" "UMLS:C4023354" + "ICD10:E23.0" "PMID:35347128" "MEDGEN:1710812" "Orphanet:93437" @@ -53573,6 +53574,7 @@ "MESH:C564178" "HP:0006837" "ICD10:I89.0" + "PMID:35995766" "EFO:0000553" "ONCOTREE:ILC" "MONDO:0005051" @@ -53581,7 +53583,6 @@ "NCIT:C7950" "UMLS:C0279565" "MEDGEN:75994" - "PMID:35995766" "PMID:25383968" "PMID:33204752" "Wikipedia:stenosis" @@ -53807,8 +53808,8 @@ "NCIT:C2995" "MEDGEN:8503" "ICD9:288" - "SCTID:54097007" "DOID:9500" + "SCTID:54097007" "MEDGEN:7325" "UMLS:C0023510" "MESH:D007960" @@ -54095,9 +54096,9 @@ "MESH:D012216" "MESH:D000070676" "UMLS:C0242490" - "SCTID:23680005" "DOID:204" "ICD9:726.9" + "SCTID:23680005" "DOID:0111507" "MESH:C537115" "icd11.foundation:1509425242" @@ -54291,6 +54292,16 @@ "SCTID:733095006" "OMIM:301940" "KEGG:C02763" + "GARD:826" + "ICD9:759.89" + "icd11.foundation:1767187670" + "OMIMPS:305620" + "MEDGEN:82703" + "SCTID:62803002" + "Orphanet:1826" + "MESH:C538064" + "DOID:0111785" + "UMLS:C0265293" "ICD9:058.1" "UMLS:C0015231" "SNOMEDCT:54385001" @@ -54305,16 +54316,6 @@ "ICD9:058.10" "MedDRA:10015586" "ICD9:057.8" - "GARD:826" - "ICD9:759.89" - "icd11.foundation:1767187670" - "OMIMPS:305620" - "MEDGEN:82703" - "SCTID:62803002" - "Orphanet:1826" - "MESH:C538064" - "DOID:0111785" - "UMLS:C0265293" "MO:514" "EV:0100340" "UMLS:C0009758" @@ -54595,13 +54596,6 @@ "FMA:69050" "BTO:0003718" "TAO:0005249" - "SCTID:764959000" - "MEDGEN:381471" - "MESH:C535458" - "UMLS:C1854663" - "Orphanet:3068" - "GARD:1358" - "OMIM:253320" "BTO:0004353" "GAID:681" "EFO:0001391" @@ -54611,6 +54605,13 @@ "BAMS:SS" "MESH:D013003" "neuronames:3241" + "SCTID:764959000" + "MEDGEN:381471" + "MESH:C535458" + "UMLS:C1854663" + "Orphanet:3068" + "GARD:1358" + "OMIM:253320" "MESH:D018307" "UMLS:C0206720" "DOID:3168" @@ -54984,9 +54985,9 @@ "SCTID:2589008" "ICD9:375.01" "UMLS:C0149505" - "PMID:29875488" "SNOMEDCT_US:37125009" "UMLS:C0026961" + "PMID:29875488" "UMLS:C5566660" "DOID:0080012" "MEDGEN:1798083" @@ -55134,12 +55135,12 @@ "DOID:1440" "OMIM:266255" "ICD10:Q87.8" - "BTO:0000679" "MEDGEN:266243" "SCTID:372105009" "NCIT:C5973" "UMLS:C1299240" "DOID:7763" + "BTO:0000679" "PMID:20941385" "UMLS:C1839546" "MeSH:D010215" @@ -55724,7 +55725,6 @@ "MESH:D007153" "UMLS:C0398686" "DOID:612" - "PMID:35347128" "MESH:D002769" "NCIT:C122822" "SCTID:266474003" @@ -55740,6 +55740,7 @@ "ICD9:574.5" "ICD10:K80" "OMIM:611465" + "PMID:35347128" "MedDRA:10047505" "SCTID:186803007" "NCIT:C34771" @@ -56278,9 +56279,8 @@ "BTO:0003709" "RRID:CVCL_3791" "CLO:0008905" - "OMIM:611597" - "ICD10:Q12.0" "OMIM:616721" + "OMIM:617395" "DOID:0050571" "UMLS:C5574948" "MEDGEN:1812737" @@ -56291,7 +56291,8 @@ "OMIM:616829" "MESH:C535747" "MONDO:0005501" - "OMIM:617395" + "OMIM:611597" + "ICD10:Q12.0" "BTO:0002045" "NCIt:C12685" "SCTID:26682008" @@ -56682,6 +56683,8 @@ "NCIT:C3398" "NCIt:C3398" "SNOMEDCT:126490003" + "OMIM:271530" + "ICD10:Q76.3" "RRID:CVCL_1058" "CLO:0001565" "BTO:0003767" @@ -56706,8 +56709,6 @@ "PMID:7561049" "PMID:16020197" "Beilstein:1912135" - "OMIM:271530" - "ICD10:Q76.3" "https://cellxgene.cziscience.com/cellguide/CL_0000890" "PMID:35697867" "UMLS:C4021808" @@ -56762,7 +56763,6 @@ "Orphanet:99846" "MEDGEN:320384" "MESH:C563546" - "HMDB:0032740" "NCIT:C6542" "MEDGEN:272471" "DOID:6161" @@ -56771,7 +56771,7 @@ "UMLS:C0205650" "DOID:3172" "MEDGEN:59999" - "MP:0004883" + "HMDB:0032740" "MEDGEN:52426" "icd11.foundation:22873958" "ICD9:123.5" @@ -56783,6 +56783,7 @@ "ICD10CM:B70.1" "NCIT:C35030" "MESH:D013031" + "MP:0004883" "PMID:24816252" "PMID:28099430" "MESH:C564715" @@ -57019,6 +57020,10 @@ "UMLS:C1849069" "MEDGEN:341373" "PMID:28240269" + "OMIM:619057" + "DOID:0112137" + "MEDGEN:1757992" + "UMLS:C5436703" "MEDGEN:393265" "SCTID:716456000" "MESH:C567184" @@ -57028,10 +57033,6 @@ "GARD:11974" "DOID:0060419" "Orphanet:65286" - "OMIM:619057" - "DOID:0112137" - "MEDGEN:1757992" - "UMLS:C5436703" "ICDO:8585/3" "MONDO:0006458" "ICDO:8585/1" @@ -57040,16 +57041,16 @@ "UMLS:C0279705" "DOID:7926" "MEDGEN:124648" - "ICD10:Q87.8" - "OMIM:618021" - "MeSH:C536500" - "UMLS:C2931218" - "OMIM:273395" "MEDGEN:864033" "OMIM:616227" "DOID:0110658" "GARD:18453" "UMLS:C4015596" + "ICD10:Q87.8" + "OMIM:618021" + "MeSH:C536500" + "UMLS:C2931218" + "OMIM:273395" "PMID:35347128" "PMID:37794183" "ICD10:S47" @@ -57321,12 +57322,12 @@ "NIF_Subcellular:sao1881364067" "Wikipedia:Endoplasmic_reticulum#Rough_endoplasmic_reticulum" "PMID:35347128" + "PMID:30959515" + "PMID:16708394" " CLO:0008750" "RRID:CVCL_0513" "BTO:0002874" "CLO:0008749" - "PMID:30959515" - "PMID:16708394" "SNOMEDCT_US:79890006" "UMLS:C0003123" "UMLS:C0016242" @@ -57700,7 +57701,6 @@ "Orphanet:231120" "ICD10:Q87.3" "UMLS:CN201471" - "Orphanet:371183" "NCIT:C3317" "MedDRA:10061913" "MESH:D010412" @@ -57712,6 +57712,7 @@ "MEDGEN:14656" "DOID:11624" "UMLS:C0030849" + "Orphanet:371183" "PMID:29084231" "SCTID:419197009" "UMLS:C1690006" @@ -58774,10 +58775,10 @@ "SCTID:253781004" "UMLS:C5542316" "PMID:29875488" + "PMID:29875488" "NCIt:C117207" "UMLS:C4021526" "NCIT:C20180" - "PMID:29875488" "CLO:0003771" "BTO:0003575" "RRID:CVCL_0302" @@ -59505,12 +59506,12 @@ "NCIT:C6906" "DOID:2129" "PMID:35347128" - "SCTID:735082004" - "NCIT:C7752" "BTO:0000358" " CLO:0007595" "RRID:CVCL_0444" "CLO:0007594" + "SCTID:735082004" + "NCIT:C7752" "PMID:24373199" "UMLS:C4330050" "NCIT:C132505" @@ -59759,9 +59760,6 @@ "SNOMEDCT:23560001" "MESH:D020817" "Orphanet:1162" - "OMIM:125370" - "UMLS:C0751781" - "ICD10:G11" "DOID:1967" "NCIT:C3158" "MEDGEN:9711" @@ -59781,6 +59779,9 @@ "UMLS:C0023269" "SCTID:443719001" "GARD:0006880" + "OMIM:125370" + "UMLS:C0751781" + "ICD10:G11" "DOID:4865" "MeSH:D014036" "MONDO:0005985" @@ -59953,9 +59954,6 @@ "MeSH:C536563" "OMIM:174500" "ICD10:Q74.8" - "SNOMEDCT:34254002" - "FMA:84196" - "ZFA:0009257" "SCTID:703406006" "UMLS:C1857276" "DOID:0111414" @@ -59971,6 +59969,9 @@ "DOID:0080058" "GARD:17516" "SCTID:763351003" + "SNOMEDCT:34254002" + "FMA:84196" + "ZFA:0009257" "PMID:35347128" "UMLS:C0238395" "SNOMEDCT_US:111332007" @@ -60186,9 +60187,9 @@ "UMLS:C4749287" "Orphanet:3173" "PMID:29875488" - "PMID:24816252" "Chemspider:16568328" "HMDB:HMDB0028917" + "PMID:24816252" "RRID:CVCL_1100" "CLO:0050930" "ATCC:CRL-1550" @@ -60776,10 +60777,6 @@ "AEO:0000171" "UMLS:C0678727" "XAO:0003043" - "MEDGEN:232356" - "UMLS:C1333003" - "DOID:3675" - "NCIT:C6563" "ICD10:Q04.3" "OMIM:616212" "OMIM:617255" @@ -60787,6 +60784,10 @@ "UMLS:C0266463" "MedDRA:10048911" "OMIM:618325" + "MEDGEN:232356" + "UMLS:C1333003" + "DOID:3675" + "NCIT:C6563" "PMID:28915241" "PMID:26190474" "DMBA:15903" @@ -61588,8 +61589,8 @@ "OMIM:113900" "MedDRA:10006578" "MedDRA:10006583" - "BTO:0002070" "ZFA:0009326" + "BTO:0002070" "PMID:27477910" "ICD10:G11.4" "OMIM:248900" @@ -61786,15 +61787,15 @@ "Orphanet:263355" "PMID:29875488" "PMID:35347128" - "UMLS:C1264040" - "OMIM:613554" - "MeSH:D056728" - "ICD10:D68.0" "DOID:0081003" "OMIM:616858" "UMLS:C4225179" "GARD:16470" "MEDGEN:908796" + "UMLS:C1264040" + "OMIM:613554" + "MeSH:D056728" + "ICD10:D68.0" "MEDGEN:318935" "UMLS:C1833683" "OMIMPS:167030" @@ -63005,6 +63006,11 @@ "OMIM:620194" "MEDGEN:1824061" "UMLS:C5774288" + "UMLS:C0877388" + "DOID:6621" + "MEDGEN:164084" + "NCIT:C5433" + "PMID:35347128" "MEDGEN:137782" "MESH:C538229" "NCIT:C4310" @@ -63012,11 +63018,6 @@ "ICDO:9300/0" "MONDO:0006073" "EFO:1000072" - "UMLS:C0877388" - "DOID:6621" - "MEDGEN:164084" - "NCIT:C5433" - "PMID:35347128" "RRID:CVCL_3172" "CLO:0037114" "BTO:0003493" @@ -63388,6 +63389,11 @@ "UMLS:C0271001" "UMLS:C0263353" "MEDGEN:120471" + "ICD10:G40.3" + "OMIM:254780" + "MedDRA:10054030" + "MeSH:D020192" + "UMLS:C0751783" "PMID:35668104" "PMID:27918536" "MEDGEN:854402" @@ -63402,11 +63408,6 @@ "MEDGEN:1383136" "Orphanet:262633" "SCTID:726346004" - "ICD10:G40.3" - "OMIM:254780" - "MedDRA:10054030" - "MeSH:D020192" - "UMLS:C0751783" "ICD10:Q51" "UMLS:C4025900" "ICD10:R87" @@ -63573,6 +63574,15 @@ "PMID:32641083" "PMID:35347128" "RRID:CVCL_0176" + "ICD9:401.9" + "SCTID:59621000" + "ICD9:401" + "MEDGEN:88442" + "DOID:10825" + "icd11.foundation:761947693" + "UMLS:C0085580" + "MESH:D000075222" + "Orphanet:243761" "OMIM:100800" "NANDO:1200877" "MESH:D000130" @@ -63588,15 +63598,6 @@ "GARD:8173" "NANDO:2201009" "NORD:711" - "ICD9:401.9" - "SCTID:59621000" - "ICD9:401" - "MEDGEN:88442" - "DOID:10825" - "icd11.foundation:761947693" - "UMLS:C0085580" - "MESH:D000075222" - "Orphanet:243761" "ICD10:Q93.5" "PMID:29875488" "PMID:29875488" @@ -63605,6 +63606,7 @@ "NCIT:C53654" "MONDO:0005110" "MEDGEN:18634" + "PMID:29875488" "MESH:C536701" "MEDGEN:419038" "UMLS:C2931292" @@ -63614,7 +63616,6 @@ "MEDGEN:235084" "NCIT:C9012" "UMLS:C1368888" - "PMID:29875488" "Orphanet:1677" "MEDGEN:901482" "UMLS:C4274283" @@ -63634,18 +63635,6 @@ "OMIM:607196" "MeSH:C538247" "PMID:28240269" - "UMLS:C0020441" - "MedDRA:10020596" - "MESH:D006936" - "DOID:12733" - "ICD9:521.5" - "MEDGEN:9360" - "SNOMEDCT:78537008" - "SCTID:78537008" - "MeSH:D006936" - "ICD10CM:K03.4" - "MONDO:0006790" - "ICD10:K03.4" "DOID:0110275" "Orphanet:267" "SCTID:715341003" @@ -63660,6 +63649,18 @@ "Orphanet:477787" "OMIM:618372" "MEDGEN:1799074" + "UMLS:C0020441" + "MedDRA:10020596" + "MESH:D006936" + "DOID:12733" + "ICD9:521.5" + "MEDGEN:9360" + "SNOMEDCT:78537008" + "SCTID:78537008" + "MeSH:D006936" + "ICD10CM:K03.4" + "MONDO:0006790" + "ICD10:K03.4" "NCIT:C4614" "SCTID:255184001" "UMLS:C0347390" @@ -63674,10 +63675,10 @@ "UMLS:C0154040" "MEDGEN:56330" "NCIT:C3629" + "OMIM:192315" "UMLS:C3809874" "OMIM:615545" "MEDGEN:816204" - "OMIM:192315" "https://catalog.coriell.org" "Orphanet:98963" "MESH:C535474" @@ -64028,12 +64029,12 @@ "NCIT:C13074" "EMAPA:25135" "PMID:29875488" - "Orphanet:206970" "GARD:20372" "MEDGEN:107510" "MESH:D020967" "MedDRA:10028658" "UMLS:C0553604" + "Orphanet:206970" "UMLS:C1837014" "OMIM:607554" "MESH:C563817" @@ -64173,12 +64174,12 @@ "ICDO:8077/2" "ICDO:8070/2" "NCIT:C27093" - "PMID:29875488" "PMID:37794183" - "PMID:29875488" "Medgen:CN239479" + "PMID:29875488" "PMID:33634981" "RRID:CVCL_2206" + "PMID:29875488" "UMLS:C4747658" "MEDGEN:1662086" "UMLS:C4747517" @@ -64402,11 +64403,11 @@ "NCIt:C3156" "OMIM:201550" "ICD10:Q74.8" + "PMID:29875488" "DOID:10003" "SNOMEDCT_US:60700002" "UMLS:C0018784" "SNOMEDCT:60700002" - "PMID:29875488" "UMLS:C3151088" "DOID:0111944" "MEDGEN:462438" @@ -64635,6 +64636,8 @@ "UMLS:C0162627" "SNOMEDCT_US:385627004" "SNOMEDCT_US:128045006" + "OMIM:607694" + "ICD10:E75.2" "MESH:D014895" "MEDGEN:21912" "UMLS:C0043102" @@ -64643,8 +64646,6 @@ "TAO:0005059" "ZFA:0005059" "EFO:0003706" - "OMIM:607694" - "ICD10:E75.2" "https://en.wikipedia.org/wiki/Neuromyelitis_optica" "PMID:35347128" "PMID:28240269" @@ -65006,14 +65007,14 @@ "DOID:12935" "UMLS:C0007192" "NCIt:C53653" - "Orphanet:370068" - "UMLS:C1739111" "GARD:15240" "OMIM:273800" "DOID:2219" "SCTID:32942005" "MESH:D013915" "NCIT:C61249" + "Orphanet:370068" + "UMLS:C1739111" "MONDO:0005386" "MESH:D058729" "MedDRA:10067825" @@ -65167,13 +65168,13 @@ "MedDRA:10014962" "UMLS:C1527407" "PMID:27918536" + "ICD10:Q18.8" "MEDGEN:419136" "UMLS:C2931671" "SCTID:726347008" "GARD:20849" "Orphanet:262638" "MESH:C537941" - "ICD10:Q18.8" "MA:0000717" "MeSH:D004727" "MeSH:D004730" @@ -65185,9 +65186,9 @@ "GARD:12409" "MEDGEN:370234" "MESH:C567040" - "MeSH:D048168" "Gmelin:386661" "MetaCyc:CPD-7830" + "MeSH:D048168" "GARD:15746" "OMIM:614042" "MEDGEN:481320" @@ -65434,12 +65435,6 @@ "UMLS:C4025832" "RRID:CVCL_4373" "PMID:3884143" - "GARD:17333" - "UMLS:C5548209" - "icd11.foundation:563302182" - "NANDO:1200986" - "Orphanet:289860" - "MEDGEN:1781124" "MEDGEN:389393" "UMLS:C2347126" "ICD10:M31.7" @@ -65455,6 +65450,12 @@ "SCTID:239928004" "MedDRA:10063344" "MONDO:0019124" + "GARD:17333" + "UMLS:C5548209" + "icd11.foundation:563302182" + "NANDO:1200986" + "Orphanet:289860" + "MEDGEN:1781124" "MEDGEN:154265" "Orphanet:171439" "UMLS:C0546125" @@ -65652,6 +65653,7 @@ "PMID:35347128" "PMID:37794183" "PMID:29875488" + "PMID:29875488" "PMID:37794183" "MESH:C535779" "Orphanet:3180" @@ -65660,7 +65662,6 @@ "MEDGEN:325510" "OMIM:600000" "SCTID:716231009" - "PMID:29875488" "SNOMEDCT:411387005" "KEGG:C13377" "KEGG:D01905" @@ -65751,7 +65752,6 @@ "UMLS:C0149603" "ICD10:E85.0" "PMID:37794183" - "NCIt:C6890" "MESH:C567466" "Orphanet:163937" "UMLS:C2677903" @@ -65759,6 +65759,7 @@ "MEDGEN:437070" "DOID:0060807" "OMIM:300749" + "NCIt:C6890" "MESH:D017074" "icd11.foundation:1908371517" "MedDRA:10021449" @@ -66125,10 +66126,10 @@ "icd11.foundation:796317173" "NANDO:1200074" "Orphanet:566243" - "Medgen:CN239344" "UMLS:C0341811" "SCTID:237038001" "MEDGEN:574651" + "Medgen:CN239344" "UMLS:C2676790" "DOID:0070120" "MESH:C567365" @@ -66355,6 +66356,7 @@ "NCIt:C125664" "MONDO:0000675" "PMID:24816252" + "PMID:25695952" "OMIM:607323" "Orphanet:959" "Orphanet:93293" @@ -66365,7 +66367,6 @@ "DOID:0060747" "MEDGEN:301647" "SCTID:720415006" - "PMID:25695952" "SCTID:450956008" "MEDGEN:396324" "GARD:22348" @@ -66461,15 +66462,6 @@ "SCTID:181452004" "EMAPA:29915" "CALOHA:TS-1102" - "UMLS:C4072832" - "SNOMEDCT_US:248200007" - "SNOMEDCT_US:32003007" - "UMLS:C1385263" - "SNOMEDCT_US:398302004" - "UMLS:C0424503" - "UMLS:C4072833" - "SNOMEDCT_US:398206004" - "UMLS:C0266617" "NCIt:C12578" "SNOMEDCT:4212006" "FMA:66768" @@ -66480,6 +66472,15 @@ "WBbt:0003672" "NIFSTD:sao441624014" "BTO:0000414" + "UMLS:C4072832" + "SNOMEDCT_US:248200007" + "SNOMEDCT_US:32003007" + "UMLS:C1385263" + "SNOMEDCT_US:398302004" + "UMLS:C0424503" + "UMLS:C4072833" + "SNOMEDCT_US:398206004" + "UMLS:C0266617" "https://en.wikipedia.org/wiki/Neuromyelitis_optica" "GARD:18763" "Orphanet:2266" @@ -66504,10 +66505,10 @@ "CLO:0009348" "RRID:CVCL_0006" "PMID:35347128" - "FBdv:00005306" "SNOMEDCT:14089001" "MeSH:D004906" "NCIt:C51946" + "FBdv:00005306" "SCTID:718718009" "OMIM:300843" "GARD:16782" @@ -66973,6 +66974,7 @@ "UMLS:C0311223" "MONDO:0006763" "PMID:29875488" + "PMID:29875488" "PMID:8429917" "CiteXplore:8429917" "PMID:18718451" @@ -67009,7 +67011,6 @@ "MESH:C563963" "UMLS:C1838281" "OMIM:600302" - "PMID:29875488" "Orphanet:98039" "PMID:33283231" "SCTID:71779008" @@ -67688,14 +67689,14 @@ "ICD10:Q74.8" "UMLS:C1856789" "SNOMEDCT:420470004" - "BTO:0002183" - "RRID:CVCL_7109" "Orphanet:99960" "UMLS:C4551899" "GARD:10028" "DOID:0070231" "MEDGEN:1637492" "OMIM:243300" + "BTO:0002183" + "RRID:CVCL_7109" "SNOMEDCT:76567009" "NCIt:C35512" "MedDRA:10061225" @@ -67734,12 +67735,6 @@ "EMAPA:16640" "Wikipedia:Prosencephalon" "EHDAA:2643" - "UMLS:C2936859" - "ICD10:Q87.8" - "MeSH:C536108" - "OMIM:310465" - "OMIM:607584" - "ICD10:G11.4" "PMID:22177955" "PMID:22174792" "CAS:74772-77-3" @@ -67782,6 +67777,12 @@ "PMID:21354099" "SNOMEDCT:63369000" "FMA:84198" + "UMLS:C2936859" + "ICD10:Q87.8" + "MeSH:C536108" + "OMIM:310465" + "OMIM:607584" + "ICD10:G11.4" "PMID:35347128" "SNOMEDCT:226097005" "MEDGEN:382128" @@ -67927,8 +67928,8 @@ "SCTID:231479000" "SNOMEDCT:231479000" "Orphanet:91088" - "LINCS:LSM-5355" "PMID:19335717" + "LINCS:LSM-5355" "FooDB:FDB014504" "PMID:15831910" "PMID:24650098" @@ -67995,12 +67996,12 @@ "DOID:4910" "MEDGEN:234461" "UMLS:C1336885" + "PMID:34610981" "DOID:0111991" "MEDGEN:1673905" "OMIM:618459" "UMLS:C5193109" "PMID:26998518" - "PMID:34610981" "Orphanet:399983" "PMID:37794183" "PMID:37794183" @@ -68011,6 +68012,7 @@ "CAS:938-85-2" "Orphanet:98661" "OMIM:144755" + "ICD10:E85.0" "MEDGEN:895965" "UMLS:C4225211" "OMIM:616779" @@ -68027,7 +68029,6 @@ "EMAPA:37505" "OMIM:613724" "ICD10:E75.2" - "ICD10:E85.0" "PMID:35347128" "NANDO:2200669" "MESH:C565220" @@ -68039,11 +68040,11 @@ "MEDGEN:344008" "GARD:12478" "PMID:37794183" - "OMIM:614921" - "ICD10:E77.8" "ICD10:R60" "MedDRA:10014210" "HP:0000969" + "OMIM:614921" + "ICD10:E77.8" "PMID:25262759" "PMID:21177962" "UMLS:C2677897" @@ -68104,7 +68105,6 @@ "NCIt:C3414" "Orphanet:98720" "PMID:24816252" - "SNOMEDCT:26716007" "MedDRA:10008272" "DOID:9681" "MedDRA:10008271" @@ -68120,6 +68120,7 @@ "MONDO:0005698" "MedDRA:10008273" "MESH:D002581" + "SNOMEDCT:26716007" "PMID:22330257" "DrugBank:DB01017" "Patent:WO2008104734" @@ -68892,6 +68893,9 @@ "UMLS:C4275075" "MEDGEN:894770" "GARD:11910" + "RRID:CVCL_2886" + "CLO:0002741" + "BTO:0002995" "OMIM:618150" "Orphanet:85172" "GARD:16736" @@ -68899,9 +68903,6 @@ "icd11.foundation:738688839" "DOID:0111673" "UMLS:C1300285" - "RRID:CVCL_2886" - "CLO:0002741" - "BTO:0002995" "GARD:19028" "ICD9:694.9" "ICD9:694.8" @@ -69324,6 +69325,7 @@ "PMID:14729974" "PMID:24559077" "PMID:22281243" + "PMID:37794183" "UMLS:C5679613" "SCTID:18978002" "MESH:D050090" @@ -69332,7 +69334,6 @@ "NCIT:C127167" "Orphanet:2138" "NANDO:2200387" - "PMID:37794183" "ICDO:9194/3" "MONDO:0006246" "ONCOTREE:HGSOS" @@ -69799,8 +69800,8 @@ "MGI:2164831" "BTO:0006508" "RRID:CVCL_6298" - "PMID:29875488" "PMID:29875488" + "PMID:29875488" "EMAPA:16092" "ZFA:0000417" "TAO:0000417" @@ -69961,15 +69962,21 @@ "MEDGEN:19993" "NCIt:C3372" "Orphanet:399994" + "ICD10:Q12.0" "PMID:29875488" - "PMID:31046077" "SNOMEDCT:16208003" "PMID:37794183" + "PMID:31046077" "UMLS:C0496874" "NCIT:C8612" "DOID:0060117" "MEDGEN:141678" - "ICD10:Q12.0" + "UMLS:C5397991" + "MONDO:0006278" + "EFO:1000335" + "MEDGEN:1709750" + "NCIT:C8295" + "UMLS:C0281373" "NCIT:C154891" "PMID:33907307" "PMID:37794183" @@ -69982,12 +69989,6 @@ "MESH:C564010" "OMIM:600002" "GARD:16698" - "UMLS:C5397991" - "MONDO:0006278" - "EFO:1000335" - "MEDGEN:1709750" - "NCIT:C8295" - "UMLS:C0281373" "PMID:29875488" "PMID:29875488" "UMLS:C0751964" @@ -70296,9 +70297,9 @@ "OMIM:619053" "GARD:16408" "MEDGEN:1746545" + "SNOMEDCT:18459005" "VFB:FBbt_00005675" "FBbt:00005675" - "SNOMEDCT:18459005" "PMID:29875488" "OMIM:193510" "OMIM:611584" @@ -70327,6 +70328,7 @@ "MeSH:C536861" "ICD10:G11.4" "PMID:28240269" + "https://www.breastcancer.org/symptoms/diagnosis/hormone_status" "NORD:1258" "NCIT:C98949" "DOID:4626" @@ -70338,7 +70340,6 @@ "GARD:6681" "icd11.foundation:1963574608" "SCTID:30023002" - "https://www.breastcancer.org/symptoms/diagnosis/hormone_status" "PMID:37794183" "MEDGEN:1842372" "GARD:20683" @@ -70576,6 +70577,12 @@ "UMLS:C3553870" "GARD:17469" "Orphanet:319675" + "MEDGEN:318937" + "Orphanet:2791" + "UMLS:C1833693" + "SCTID:707310009" + "OMIM:166750" + "GARD:4168" "MESH:D018229" "UMLS:C0206653" "EFO:1000806" @@ -70585,12 +70592,6 @@ "EFO:1000084" "ICDO:8894/0" "MONDO:0006646" - "MEDGEN:318937" - "Orphanet:2791" - "UMLS:C1833693" - "SCTID:707310009" - "OMIM:166750" - "GARD:4168" "ICD10:E85.0" "UMLS:C0041317" "MONDO:0006845" @@ -70653,12 +70654,6 @@ "MedGen:C1864399" "DI:00917" "MeSH:D018901" - "MedDRA:10071094" - "OMIM:120100" - "ICD10:L50.2" - "MedDRA:10064570" - "OMIM:616115" - "UMLS:C0343068" "MEDGEN:501111" "Orphanet:2297" "OMIM:610549" @@ -70667,6 +70662,12 @@ "icd11.foundation:343459534" "MESH:C562710" "UMLS:C0342278" + "MedDRA:10071094" + "OMIM:120100" + "ICD10:L50.2" + "MedDRA:10064570" + "OMIM:616115" + "UMLS:C0343068" "SCTID:31712002" "NANDO:1200439" "ICD9:571.6" @@ -71186,9 +71187,9 @@ "MEDGEN:124642" "DOID:3495" "Orphanet:79378" - "PMID:24816252" "ZFA:0001422" "PMID:29500382" + "PMID:24816252" "PMID:27462443" "MESH:C563290" "UMLS:C1832111" @@ -71775,13 +71776,13 @@ "DOID:14268" "MONDO:0018646" "PMID:35050183" + "PMID:20495556" "MO:791" "SNOMEDCT:246508008" "SNOMEDCT:703421000" "PATO:0000146" "NCIt:C25206" "MeSH:D013696" - "PMID:20495556" "UMLS:C0240421" "PMID:29875488" "UMLS:C1857572" @@ -72110,9 +72111,9 @@ "GARD:19954" "Orphanet:141163" "SCTID:717814004" - "PMID:28240269" "SNOMEDCT_US:3434004" "UMLS:C0027125" + "PMID:28240269" "UMLS:C4020740" "Orphanet:247765" "DOID:0050953" @@ -72442,6 +72443,7 @@ "MONDO:0006481" "UMLS:C0600079" "DOID:4939" + "PMID:24816252" "SCTID:59763006" "UMLS:C0432272" "DOID:0080036" @@ -72451,7 +72453,6 @@ "GARD:2833" "OMIM:239100" "Orphanet:3416" - "PMID:24816252" "NCIT:C40276" "UMLS:C1512974" "MEDGEN:307683" @@ -72481,6 +72482,7 @@ "SNOMEDCT:356624006" "NCIt:C48154" "ICD10:E66.8" + "PMID:37164013" "SNOMEDCT_US:190882007" "UMLS:C0347959" "UMLS:C0001125" @@ -72490,7 +72492,6 @@ "DOID:4062" "UMLS:C1336727" "NCIT:C6359" - "PMID:37164013" "UMLS:C0544452" "NCIt:C18246" "PMID:22770225" @@ -72928,13 +72929,14 @@ "GARD:476" "SNOMEDCT:12368000" "ICD10:K74.4" + "PMID:28240269" "Orphanet:363528" "OMIM:615286" "DOID:0081099" "UMLS:C4750838" "MEDGEN:1665943" "GARD:17563" - "PMID:28240269" + "PMID:20512117" "NCIT:C13050" "Wikipedia:Skeletal_striated_muscle" "MA:0002439" @@ -72942,7 +72944,6 @@ "SCTID:426215008" "FMA:14069" "UMLS:C0242692" - "PMID:20512117" "ICD10:H91" "MONDO:0005365" "SCTID:15188001" @@ -73468,11 +73469,11 @@ "MO:779" "SNOMEDCT:69297003" "NCIt:C68779" - "PMID:28240269" "ZFA:0009140" "MESH:D010586" "FMA:83806" "BTO:0001044" + "PMID:28240269" "DOID:0110650" "GARD:10435" "OMIM:611818" @@ -73858,13 +73859,13 @@ "TAO:0001053" "EFO:0003612" "PMID:33634981" - "UMLS:C1527388" - "MeSH:D000652" - "ICD10:Q79.8" "PMID:31043756" "DOID:14042" "MedDRA:10004939" "MedDRA:10068455" + "UMLS:C1527388" + "MeSH:D000652" + "ICD10:Q79.8" "UMLS:C1832342" "OMIM:609069" "GARD:16670" @@ -73886,9 +73887,9 @@ "MedDRA:10050245" "UMLS:C0242584" "GARD:18906" - "PMID:37794183" "OMIM:614756" "ICD10:G11.0" + "PMID:37794183" "EFO:1000484" "NCIT:C45662" "UMLS:C1709574" @@ -74400,9 +74401,9 @@ "FMA:7085" "EHDAA:512" "NCIT:C28287" + "Wikipedia:Viscus" "UMLS:C0042779" "MA:0000019" - "Wikipedia:Viscus" "EMAPA:16245" "AAO:0010386" "MESH:D014781" @@ -74467,6 +74468,7 @@ "OMIM:613402" "GARD:10933" "MEDGEN:462017" + "Orphanet:98915" "MESH:D003536" "EFO:0006387" "DOID:3111" @@ -74475,7 +74477,6 @@ "UMLS:C0010631" "MONDO:0005596" "MEDGEN:41385" - "Orphanet:98915" "OMIM:615474" "UMLS:C3809609" "MEDGEN:815939" @@ -74616,8 +74617,8 @@ "PMID:33634981" "RRID:CVCL_6284" "MEDGEN:525" - "UMLS:C0004991" "ICD9:211.3" + "UMLS:C0004991" "DOID:235" "NCIT:C2894" "SCTID:92065004" @@ -75370,8 +75371,8 @@ "PMID:29875488" "PMID:35995766" "PMID:33634981" - "NCIT:C102570" "PMID:23823483" + "NCIT:C102570" "MEDGEN:477791" "UMLS:C3276161" "OMIM:614473" @@ -75418,7 +75419,6 @@ "OMIM:616187" "UMLS:C0751778" "OMIM:616230" - "ICD9:627" "MEDGEN:1618052" "UMLS:C4540232" "DOID:0112004" @@ -75434,6 +75434,7 @@ "Orphanet:2815" "UMLS:C0684219" "SNOMEDCT_US:27678003" + "ICD9:627" "MEDGEN:862386" "Orphanet:319552" "OMIM:614891" @@ -75482,9 +75483,9 @@ "DOID:13924" "ICD9:101" "NCIt:C34637" - "PMID:28240269" "MeSH:D015325" "DOID:3649" + "PMID:28240269" "NCIt:C19263" "ERO:0001242" "OMIM:611819" @@ -76408,7 +76409,6 @@ "Orphanet:220443" "PMID:25262759" "PMID:21177962" - "PMID:24816252" "UMLS:C0282528" "icd11.foundation:782299726" "SCTID:238059005" @@ -76438,10 +76438,6 @@ "MEDGEN:310947" "UMLS:C1708771" "NCIT:C45636" - "OMIM:618912" - "DOID:0081427" - "UMLS:C5394466" - "MEDGEN:1714781" "GARD:2838" "OMIM:239200" "SCTID:715218009" @@ -76451,7 +76447,11 @@ "icd11.foundation:1929875111" "MESH:C563375" "NCIT:C131853" - "UMLS:C3179508" + "PMID:24816252" + "OMIM:618912" + "DOID:0081427" + "UMLS:C5394466" + "MEDGEN:1714781" "ICD10CM:H35.5" "UMLS:C4085590" "GARD:10790" @@ -76461,6 +76461,7 @@ "DOID:0050572" "NANDO:1200937" "OMIMPS:120970" + "UMLS:C3179508" "PMID:29875488" "MedDRA:10054859" "MeSH:D004831" @@ -76472,6 +76473,17 @@ "MONDO:0005597" "PMID:3739121" "Wikipedia:Carbonic_anhydrase_II" + "NCIT:C4375" + "MEDGEN:293643" + "UMLS:C1578917" + "OMIM:147630" + "SCTID:274944000" + "MESH:C563258" + "MEDGEN:313444" + "UMLS:C1709053" + "DOID:4065" + "ICDO:8902/3" + "NCIT:C4259" "NCIt:C26849" "icd11.foundation:775356003" "ICD9:567.8" @@ -76489,17 +76501,6 @@ "ICD10:K65" "UMLS:C0031154" "MEDGEN:14697" - "NCIT:C4375" - "MEDGEN:293643" - "UMLS:C1578917" - "OMIM:147630" - "SCTID:274944000" - "MESH:C563258" - "MEDGEN:313444" - "UMLS:C1709053" - "DOID:4065" - "ICDO:8902/3" - "NCIT:C4259" "UMLS:C4021822" "MAT:0000152" "FBbt:00005177" @@ -76571,7 +76572,6 @@ "Orphanet:101934" "OMIM:309545" "ICD10:Q87.8" - "PMID:29875488" "SCTID:69322001" "MEDGEN:19568" "ICD9:298.8" @@ -76590,6 +76590,7 @@ "Orphanet:369894" "GARD:13676" "UMLS:C3809624" + "PMID:29875488" "EMAPA:35782" "SCTID:38986009" "FMA:15054" @@ -77010,8 +77011,8 @@ "icd11.foundation:2057381869" "PMID:29875488" "PMID:23823483" - "UMLS:C1842878" "OMIM:608290" + "UMLS:C1842878" "PMID:29532581" "PMID:21733084" "Wikipedia:Thioacetamide" @@ -77494,8 +77495,8 @@ "UMLS:C2931267" "ICD10:Q87.8" "OMIM:251240" - "PMID:29875488" "UMLS:C4021147" + "PMID:29875488" "MEDGEN:374177" "UMLS:C1839264" "DOID:0110773" @@ -77859,6 +77860,14 @@ "UMLS:C1517128" "NCIt:C12802" "BTO:0001387" + "DOID:0070220" + "SCTID:721235003" + "UMLS:C1864952" + "MESH:C566494" + "MEDGEN:355335" + "OMIM:609968" + "Orphanet:263458" + "GARD:17256" "icd11.foundation:123797893" "MeSH:D015663" "MESH:D015663" @@ -77868,14 +77877,6 @@ "SNOMEDCT:102447009" "UMLS:C0029458" "SCTID:102447009" - "DOID:0070220" - "SCTID:721235003" - "UMLS:C1864952" - "MESH:C566494" - "MEDGEN:355335" - "OMIM:609968" - "Orphanet:263458" - "GARD:17256" "PMID:37794183" "MEDGEN:9705" "DOID:10457" @@ -78001,11 +78002,11 @@ "MEDGEN:1755743" "UMLS:C5436552" "PMID:28447399" + "PMID:28240269" "MedDRA:10037765" "UMLS:C0206063" "MeSH:D017564" "SNOMEDCT:84004001" - "PMID:28240269" "PMID:24816252" "UMLS:C5676928" "MEDGEN:1802903" @@ -78069,6 +78070,7 @@ "MeSH:D010483" "ICD10:E72.8" "PMID:35347128" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03064&Product=CC" "MESH:C567703" "MEDGEN:413031" "Orphanet:92050" @@ -78077,7 +78079,6 @@ "GARD:10630" "SCTID:715669000" "OMIM:613217" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03064&Product=CC" "Reaxys:1744991" "PMID:24755254" "PMID:24696076" @@ -78175,6 +78176,10 @@ "OMIM:612968" "MEDGEN:442822" "MESH:C567835" + "ICD10:E34.8" + "UMLS:C0265344" + "OMIM:246200" + "MedDRA:10081903" "UMLS:C1844606" "OMIM:300431" "ICD10:Q87.8" @@ -78189,10 +78194,6 @@ "UMLS:C4225417" "OMIM:300967" "Orphanet:466791" - "ICD10:E34.8" - "UMLS:C0265344" - "OMIM:246200" - "MedDRA:10081903" "MONDO:0004957" "EFO:0000197" "UMLS:C0007130" @@ -78256,6 +78257,14 @@ "NCIT:C53684" "UMLS:C0347481" "DOID:0060123" + "MeSH:D002607" + "UMLS:C0007959" + "MedDRA:10034699" + "OMIM:616155" + "MedDRA:10008414" + "OMIM:616233" + "OMIM:608895" + "ICD10:G60.0" "MONDO:0005163" "UMLS:C1855677" "UMLS:C0024224" @@ -78268,14 +78277,6 @@ "MONDO:0006282" "MEDGEN:6154" "SCTID:403986008" - "MeSH:D002607" - "UMLS:C0007959" - "MedDRA:10034699" - "OMIM:616155" - "MedDRA:10008414" - "OMIM:616233" - "OMIM:608895" - "ICD10:G60.0" "PMID:29875488" "Reactome:R-HSA-71825" "Reactome:R-HSA-3262512" @@ -78415,7 +78416,6 @@ "MeSH:D042806" "SNOMEDCT:54915000" "NCIt:C86604" - "OMIM:606438" "ICD9:277.82" "GARD:5104" "OMIM:212140" @@ -78440,6 +78440,7 @@ "ICD9:292.89" "PMID:10718481" "PMID:10604729" + "OMIM:606438" "UMLS:C0003504" "icd11.foundation:1548485475" "ICD9:396.3" @@ -78594,6 +78595,7 @@ "UMLS:C1332885" "PMID:37794183" "PMID:35347128" + "DOID:0050899" "MedDRA:10041701" "MedDRA:10041700" "MedDRA:10041709" @@ -78626,7 +78628,6 @@ "MedDRA:10041716" "MedDRA:10041712" "MedDRA:10041710" - "DOID:0050899" "DOID:5134" "NCIT:C5608" "UMLS:C1332266" @@ -78890,8 +78891,8 @@ "UMLS:C0269189" "ICD9:022.0" "SCTID:84980006" - "icd11.foundation:2057984300" "UMLS:C0003177" + "icd11.foundation:2057984300" "DOID:7426" "MEDGEN:1959" "MESH:C531621" @@ -79107,6 +79108,7 @@ "ICDO:8272/0" "NCIT:C3329" "EFO:1000478" + "OMIM:300423" "PMID:29875488" "UMLS:C3272833" "MEDGEN:474466" @@ -79133,7 +79135,6 @@ "MedDRA:10025495" "MedDRA:10025497" "ICD9:084.6" - "OMIM:300423" "PMID:37164013" "MedDRA:10039609" "MeSH:D012555" @@ -79225,10 +79226,6 @@ "ICD10:G60.2" "PMID:29532581" "NCIt:C71624" - "UMLS:C0931849" - "FMA:24920" - "galen:Palm" - "NCIT:C33252" "ICD9:333.0" "NANDO:1200540" "MEDGEN:482001" @@ -79239,6 +79236,10 @@ "GARD:12569" "NCIT:C175707" "OMIM:614298" + "UMLS:C0931849" + "FMA:24920" + "galen:Palm" + "NCIT:C33252" "PMID:37794183" "SNOMEDCT:256227006" "MeSH:D012685" @@ -79359,6 +79360,7 @@ "MEDGEN:272726" "UMLS:C1334057" "NCIT:C27683" + "PMID:35347128" "SNOMEDCT:139299007" "UMLS:C0013395" "ICD10:R12" @@ -79399,7 +79401,6 @@ "DrugBank:DB00681" "PMID:16793999" "PMID:16120633" - "PMID:35347128" "PMID:35668104" "SNOMEDCT:81568008" "NCIt:C28447" @@ -79524,11 +79525,11 @@ "SNOMEDCT:240302002" "PMID:29261957" "NCIt:C116783" - "PMID:37794183" "UMLS:C3642324" "MEDGEN:770964" "NCIT:C40142" "DOID:5726" + "PMID:37794183" "SCTID:711153001" "GARD:5950" "UMLS:C1859405" @@ -79839,12 +79840,12 @@ "DOID:0080311" "MESH:C537456" "PMID:29875488" - "OMIM:618608" "MEDGEN:569650" "UMLS:C0334346" "ICDO:8401/3" "NCIT:C4169" "DOID:4933" + "OMIM:618608" "UMLS:C1514430" "DOID:4011" "NCIT:C39898" @@ -80191,6 +80192,10 @@ "UMLS:C0014038" "SNOMEDCT_US:45170000" "NCIt:C105555" + "MedDRA:10057078" + "DOID:3876" + "MedDRA:10024233" + "MeSH:D003112" "UMLS:C5779613" "OMIMPS:617468" "DOID:0080954" @@ -80201,10 +80206,6 @@ "GARD:777" "MEDGEN:1830310" "PMID:28240269" - "MedDRA:10057078" - "DOID:3876" - "MedDRA:10024233" - "MeSH:D003112" "MEDGEN:4928" "SCTID:405950009" "HP:0011919" @@ -80367,8 +80368,8 @@ "ORDO:167" "UMLS:C0007965" "DOID:2935" - "UMLS:C1393871" "PMID:37794183" + "UMLS:C1393871" "UMLS:C1859461" "UMLS:C0264765" "MEDGEN:538824" @@ -80951,6 +80952,18 @@ "MEDGEN:509774" "ICD9:370.24" "PMID:29875488" + "icd11.foundation:535283437" + "NCIt:C3285" + "SCTID:4210003" + "MESH:D009798" + "MedDRA:10030043" + "DOID:9282" + "MONDO:0006875" + "UMLS:C0028840" + "SNOMEDCT:4210003" + "ICD9:365.04" + "MEDGEN:10423" + "MeSH:D009798" "CLO:0009617" "RRID:CVCL_0580" "BTO:0003475" @@ -80965,18 +80978,6 @@ "MEDGEN:1712714" "GARD:18523" "UMLS:C5394477" - "icd11.foundation:535283437" - "NCIt:C3285" - "SCTID:4210003" - "MESH:D009798" - "MedDRA:10030043" - "DOID:9282" - "MONDO:0006875" - "UMLS:C0028840" - "SNOMEDCT:4210003" - "ICD9:365.04" - "MEDGEN:10423" - "MeSH:D009798" "Orphanet:263793" "EFO:0002554" "VHOG:0000421" @@ -81339,15 +81340,6 @@ "UMLS:C0338986" "DOID:0060042" "ICD9:299.80" - "PMID:30910378" - "NCIT:C135725" - "Orphanet:90321" - "icd11.foundation:1271368066" - "GARD:1415" - "UMLS:C0751039" - "DOID:0080907" - "MEDGEN:155488" - "OMIM:216400" "NCIT:C34965" "MONDO:0006939" "SCTID:45816000" @@ -81361,6 +81353,15 @@ "MeSH:D011704" "DOID:11400" "SNOMEDCT:45816000" + "PMID:30910378" + "NCIT:C135725" + "Orphanet:90321" + "icd11.foundation:1271368066" + "GARD:1415" + "UMLS:C0751039" + "DOID:0080907" + "MEDGEN:155488" + "OMIM:216400" "NCIt:C121967" "PMID:26350218" "UMLS:C0006277" @@ -81865,7 +81866,6 @@ "MESH:C538044" "SCTID:764622004" "MEDGEN:202107" - "PMID:29532581" "UMLS:C3532523" "MONDO:0000605" "SCTID:421961002" @@ -81874,6 +81874,7 @@ "SCTID:473010000" "MEDGEN:759636" "NCIT:C3114" + "PMID:29532581" "UMLS:C1332261" "NCIT:C7477" "MEDGEN:231062" @@ -82056,7 +82057,6 @@ "SNOMEDCT:50731006" "ICD10:Z41" "NCIt:C79751" - "PMID:35995766" "MEDGEN:1811493" "OMIM:619742" "UMLS:C5676914" @@ -82067,6 +82067,7 @@ "PMID:29535761" "OMIM:618622" "NCIT:C176263" + "PMID:35995766" "OMIM:619665" "UMLS:C5562046" "MEDGEN:1794256" @@ -82155,13 +82156,13 @@ "MEDGEN:19362" "MedDRA:10024583" "MeSH:D011017" - "UMLS:C4022990" - "Orphanet:199633" - "PMID:37164013" "UMLS:C1862259" "OMIM:110150" "MeSH:C536236" "ICD10:Q15.8" + "UMLS:C4022990" + "Orphanet:199633" + "PMID:37164013" "PMID:35347128" "Wikipedia:Sasang_typology" "PMID:25888059" @@ -82214,6 +82215,10 @@ "MEDGEN:327093" "UMLS:C1840404" "Orphanet:443098" + "OMIM:312830" + "UMLS:C1839321" + "ICD10:Q82.8" + "MeSH:C536625" "DOID:0060778" "Orphanet:329242" "UMLS:C4014516" @@ -82226,10 +82231,6 @@ "MEDGEN:341088" "OMIM:234280" "MESH:C536885" - "OMIM:312830" - "UMLS:C1839321" - "ICD10:Q82.8" - "MeSH:C536625" "PMID:29875488" "PMID:37794183" "ICD10:E75.2" @@ -82607,9 +82608,9 @@ "ICD10:Q78.8" "MeSH:C537502" "UMLS:C0432240" - "PMID:35995766" "NCIt:C68642" "MAT:0000237" + "PMID:35995766" "DOID:0080315" "NANDO:1200950" "NANDO:2200837" @@ -83078,9 +83079,11 @@ "MAT:0000352" "BTO:0001804" "PMID:29875488" + "OMIM:138770" + "ICD10:Q87.8" + "SNOMEDCT:286734003" "BTO:0005220" "RRID:CVCL_9555" - "SNOMEDCT:286734003" "PMID:33634981" "DOID:0080716" "GARD:17820" @@ -83088,8 +83091,6 @@ "Orphanet:464724" "OMIMPS:615438" "MEDGEN:1813021" - "OMIM:138770" - "ICD10:Q87.8" "SNOMEDCT:39473003" "NCIt:C14378" "MeSH:D011425" @@ -83206,6 +83207,7 @@ "galen:LeftAtrium" "NCIT:C12869" "SCTID:244387002" + "PMID:29875488" "MEDGEN:414346" "OMIM:613094" "DOID:0060836" @@ -83215,7 +83217,6 @@ "FBbt:00004482" "EFO:0001927" "BTO:0004711" - "PMID:29875488" "NANDO:2200251" "OMIM:605067" "icd11.foundation:845891723" @@ -83393,8 +83394,8 @@ "TAO:0000453" "NCIT:C12812" "Wikipedia:Animal" - "Orphanet:156168" "PMID:24816252" + "Orphanet:156168" "GARD:4977" "MEDGEN:376504" "icd11.foundation:637954533" @@ -83561,10 +83562,10 @@ "OMIM:311300" "OMIM:304120" "ICD10:Q87.0" - "PMID:30475886" "NCIT:C7091" "UMLS:C1333798" "MEDGEN:234305" + "PMID:30475886" "PMID:29875488" "PMID:36168886" "PMID:28011148" @@ -83573,6 +83574,7 @@ "UMLS:C1832424" "ICD10:Q04.2" "NCIt:C139267" + "MONDO:0006758" "MESH:D014384" "SCTID:74181004" "MedDRA:10061150" @@ -83581,7 +83583,6 @@ "SNOMEDCT:74181004" "UMLS:C0275931" "MeSH:D014384" - "MONDO:0006758" "MEDGEN:1372794" "OMIM:617405" "UMLS:C4479416" @@ -84041,7 +84042,20 @@ "BTO:0000039" "PO:0020123" "SNOMEDCT:444372005" - "NCIT:C17888" + "EFO:0003449" + "ZFA:0001211" + "TAO:0001211" + "LIPID_MAPS_instance:LMST01020007" + "PMID:22687440" + "PMID:9020103" + "Reaxys:2068492" + "PMID:8077850" + "PMID:24151965" + "Patent:NZ585870" + "CAS:35602-69-8" + "PMID:5762191" + "PMID:24853476" + "PMID:20957219" "icd11.foundation:292650041" "SCTID:240613006" "MEDGEN:11976" @@ -84063,20 +84077,7 @@ "MeSH:D014438" "ICD10:A75.0" "MedDRA:10061393" - "EFO:0003449" - "ZFA:0001211" - "TAO:0001211" - "LIPID_MAPS_instance:LMST01020007" - "PMID:22687440" - "PMID:9020103" - "Reaxys:2068492" - "PMID:8077850" - "PMID:24151965" - "Patent:NZ585870" - "CAS:35602-69-8" - "PMID:5762191" - "PMID:24853476" - "PMID:20957219" + "NCIT:C17888" "OMIM:618681" "Orphanet:295101" "icd11.foundation:1906312110" @@ -84725,13 +84726,13 @@ "SNOMEDCT:441033001" "PMID:29875488" "PMID:29875488" + "RRID:CVCL_0581" + "BTO:0002584" "OMIM:617174" "MEDGEN:934648" "UMLS:C4310681" "DOID:0080987" "GARD:16209" - "RRID:CVCL_0581" - "BTO:0002584" "ICDO:8713/1" "Orphanet:289685" "UMLS:C1302808" @@ -85236,6 +85237,7 @@ "UMLS:C1841853" "OMIM:138790" "PMID:29875488" + "PO_GIT:511" "MEDGEN:162878" "DOID:0111723" "NCIT:C75457" @@ -85245,7 +85247,6 @@ "Orphanet:2308" "UMLS:C0795841" "OMIM:147791" - "PO_GIT:511" "MEDGEN:147064" "MESH:D010031" "UMLS:C0699744" @@ -85389,13 +85390,6 @@ "PMID:22309095" "PMID:35347128" "PMID:24816252" - "GARD:13423" - "UMLS:C5567524" - "OMIM:616878" - "Orphanet:480864" - "NORD:1944" - "DOID:0081386" - "MEDGEN:1798947" "ONCOTREE:SCCE" "NCIT:C7982" "MEDGEN:79025" @@ -85403,6 +85397,13 @@ "EFO:1000171" "DOID:6740" "UMLS:C0279674" + "GARD:13423" + "UMLS:C5567524" + "OMIM:616878" + "Orphanet:480864" + "NORD:1944" + "DOID:0081386" + "MEDGEN:1798947" "OMIM:309585" "OMIM:614302" "MEDGEN:765974" @@ -85495,8 +85496,8 @@ "ICD10CM:H71" "SCTID:194339007" "icd11.foundation:2134365487" - "ICD9:385.32" "MedDRA:10008645" + "ICD9:385.32" "UMLS:C0155490" "ICD9:385.3" "MEDGEN:57836" @@ -85783,10 +85784,10 @@ "EMAPA:18778" "UMLS:C0031939" "BM:P" - "Wikipedia:Pineal_gland" "BIRNLEX:1184" - "SCTID:181126002" + "Wikipedia:Pineal_gland" "AAO:0010549" + "SCTID:181126002" "EV:0100131" "EHDAA2:0001466" "GAID:453" @@ -85987,12 +85988,12 @@ "MESH:D005158" "DOID:13934" "SCTID:280816001" - "PMID:35995766" "PMID:15896368" "KEGG:C15801" "KNApSAcK:C00007278" "PMID:17138693" "Beilstein:7382071" + "PMID:35995766" "MEDGEN:930808" "UMLS:C4305139" "GARD:19063" @@ -86067,9 +86068,6 @@ "MEDGEN:234167" "DOID:5421" "UMLS:C1333125" - "MEDGEN:1798084" - "DOID:0080009" - "UMLS:C5566661" "UMLS:C0037199" "SCTID:36971009" "ICD9:461" @@ -86083,6 +86081,9 @@ "DOID:0050127" "ICD9:461.9" "MESH:D012852" + "MEDGEN:1798084" + "DOID:0080009" + "UMLS:C5566661" "PMID:37794183" "PMID:30053915" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02885&Product=CC" @@ -86251,9 +86252,6 @@ "DOID:0050637" "Orphanet:85448" "OMIM:105120" - "OMIM:619609" - "UMLS:C5562020" - "MEDGEN:1794230" "NCIt:C40157" "ICD9:621.34" "UMLS:C1516855" @@ -86261,6 +86259,9 @@ "MONDO:0006193" "NCIT:C40157" "SCTID:134031000119108" + "OMIM:619609" + "UMLS:C5562020" + "MEDGEN:1794230" "SCTID:23414001" "MEDGEN:82859" "NCIT:C27062" @@ -86444,9 +86445,9 @@ "SNOMEDCT:1017006" "NCIt:C86476" "MeSH:D007780" + "PMID:24816252" "NCIt:C78718" "MedDRA:10047924" - "PMID:24816252" "FBbt:00005062" "MEDGEN:224861" "Orphanet:86845" @@ -86481,12 +86482,12 @@ "UMLS:C0023860" "OMIM:608615" "UMLS:C1854912" - "PMID:29875488" "MEDGEN:770987" "EFO:0000281" "MONDO:0004984" "UMLS:C3642347" "NCIT:C53558" + "PMID:29875488" "PMID:35347128" "UMLS:C4310680" "MEDGEN:934647" @@ -86822,8 +86823,8 @@ "EFO:0006460" "ICD10:C56" "Orphanet:213504" - "DOID:3713" "UMLS:C0948216" + "DOID:3713" "GARD:20466" "NCIT:C7700" "MONDO:0002752" @@ -86854,8 +86855,8 @@ "Orphanet:137834" "SCTID:720958002" "DOID:0111789" - "PMID:22369889" "PMID:27897270" + "PMID:22369889" "OMIM:604416" "MeSH:C536253" "UMLS:C3280315" @@ -87118,13 +87119,13 @@ "DOID:3907" "ONCOTREE:LUSC" "UMLS:C0149782" - "PMID:34814699" "MEDGEN:1824028" "UMLS:C5774255" "OMIM:620125" - "PMID:35501403" + "PMID:34814699" "GARD:4859" "Orphanet:1940" + "PMID:35501403" "MEDDRA:10001926" "SNOMEDCT_US:62588002" "UMLS:C0002447" @@ -87920,6 +87921,7 @@ "SCTID:308121000" "HGNC:990" "ZFA:0000076" + "PMID:29875488" "PMID:29875488" "SNOMEDCT:260763001" "OMIM:614433" @@ -87930,7 +87932,6 @@ "MEDGEN:234977" "DOID:5427" "UMLS:C1336893" - "PMID:29875488" "DOID:2763" "SCTID:707359008" "NCIT:C6065" @@ -88627,8 +88628,6 @@ "CiteXplore:11872840 \"PubMed citation\"" "PMID:11872840" "PMID:37794183" - "Orphanet:271841" - "UMLS:CN202528" "MedDRA:10010652" "MESH:D014125" "GARD:18708" @@ -88668,6 +88667,8 @@ "OMIMPS:254780" "SCTID:230425004" "UMLS:C0751783" + "Orphanet:271841" + "UMLS:CN202528" "UMLS:C0151740" "MeSH:D019586" "NCIt:C84791" @@ -88686,9 +88687,9 @@ "MEDGEN:1639138" "UMLS:C4706257" "SCTID:763061004" + "PMID:29875488" "ZFA:0001359" "TAO:0001359" - "PMID:29875488" "PMID:35347128" "NCIT:C116006" "MESH:D014069" @@ -89255,7 +89256,6 @@ "RRID:CVCL_0179" "CLO:0002042" "BTO:0001932" - "PMID:29875488" "SCTID:230421008" "Orphanet:1942" "MEDGEN:98284" @@ -89269,6 +89269,7 @@ "Orphanet:3004" "GARD:18784" "MEDGEN:904039" + "PMID:29875488" "PMID:36168886" "HP:0100817" "NCIt:C85044" @@ -89324,8 +89325,8 @@ "UMLS:C5679937" "MEDGEN:1843296" "GARD:21207" - "PMID:29875488" "PMID:37794183" + "PMID:29875488" "PMID:34503513" "UMLS:C4023407" "Fyler:4874" @@ -89802,8 +89803,6 @@ "GARD:20844" "Orphanet:262201" "ZFA:0000711" - "SNOMEDCT_US:84445001" - "UMLS:C0162298" "MeSH:D005352" "NCIt:C84714" "MONDO:0006761" @@ -89817,6 +89816,8 @@ "NCIT:C84714" "Orphanet:336" "UMLS:C0016052" + "SNOMEDCT_US:84445001" + "UMLS:C0162298" "Orphanet:261183" "GARD:10525" "OMIM:615656" @@ -90242,8 +90243,8 @@ "PMID:35347128" "PMID:31530798" "PMID:29875488" - "ICD10:E77.8" "PMID:35995766" + "ICD10:E77.8" "UMLS:C1855033" "MeSH:C537476" "OMIM:251950" @@ -90860,14 +90861,6 @@ "PMID:24816252" "UMLS:C1866854" "OMIM:182610" - "ICD10:K62" - "MEDGEN:19701" - "DOID:1285" - "ICD9:569.49" - "SCTID:5964004" - "UMLS:C0034882" - "MESH:D012002" - "MONDO:0001593" "ICD10:C56" "Orphanet:398961" "NCIT:C5243" @@ -90883,6 +90876,14 @@ "UMLS:C5436730" "OMIM:619071" "MEDGEN:1765130" + "ICD10:K62" + "MEDGEN:19701" + "DOID:1285" + "ICD9:569.49" + "SCTID:5964004" + "UMLS:C0034882" + "MESH:D012002" + "MONDO:0001593" "UMLS:C4022648" "PMID:23345452" "PMID:35347128" @@ -91735,13 +91736,13 @@ "SNOMEDCT_US:8011004" "SNOMEDCT:248237001" "GO:0050896" - "PMID:37794183" "NCIT:C93210" "ICD9:799.89" "UMLS:C1290884" "MONDO:0021166" "MEDGEN:452939" "SCTID:128139000" + "PMID:37794183" "UMLS:C0154251" "MedDRA:10061227" "PMID:28240269" @@ -92450,11 +92451,11 @@ "NCIt:C35062" "icd11.foundation:1327645131" "MedDRA:10043097" + "PMID:29875488" "ONCOTREE:URCC" "EFO:1000603" - "NCIT:C27892" "UMLS:C1336853" - "PMID:29875488" + "NCIT:C27892" "PMID:9573679" "MEDGEN:777988" "MESH:C580174" @@ -92564,6 +92565,7 @@ "OMIM:614435" "UMLS:C3280795" "MedDRA:10021076" + "OMIM:617308" "EHDAA:7009" "FMA:9704" "WBbt:0005777" @@ -92573,7 +92575,6 @@ "BTO:0001409" "XAO:0000144" "WBbt:0004540" - "OMIM:617308" "PMID:20325309" "PMID:28316592" "DrugBank:DB01051" @@ -92790,9 +92791,9 @@ "ICD10:H18.5" "UMLS:C1857572" "MeSH:C535473" - "PMID:29875488" "UMLS:C0267557" "SNOMEDCT_US:15699003" + "PMID:29875488" "CAS:14402-89-2" "PMID:25425768" "NCIT:C140268" @@ -92887,11 +92888,11 @@ "UMLS:C4082197" "SCTID:715795005" "Orphanet:64749" - "PMID:35050183" "MEDGEN:858066" "NCIT:C114940" "DOID:176" "UMLS:C3898472" + "PMID:35050183" "MESH:C563575" "MEDGEN:1686757" "GARD:16486" @@ -92966,11 +92967,6 @@ "ICD10CM:Q78.0" "Orphanet:2763" "PMID:37794183" - "ICD10:E75.2" - "UMLS:C1858991" - "UMLS:C2931489" - "OMIM:603896" - "MeSH:C537420" "MONDO:0005688" "icd11.foundation:1012026026" "SCTID:86500004" @@ -92979,6 +92975,11 @@ "MEDGEN:14296" "MeSH:D002169" "MESH:D002169" + "ICD10:E75.2" + "UMLS:C1858991" + "UMLS:C2931489" + "OMIM:603896" + "MeSH:C537420" "PMID:37794183" "OMIM:268315" "UMLS:C1849333" @@ -93021,8 +93022,6 @@ "NCIt:C86724" "SNOMEDCT:18054009" "PMID:35668104" - "PMID:29875488" - "PMID:24816252" "SCTID:244953001" "EMAPA:29671" "FMA:17722" @@ -93030,11 +93029,13 @@ "EMAPA:35512" "MA:0001677" "Wikipedia:Thick_ascending_limb_of_loop_of_Henle" + "PMID:29875488" "DOID:0112190" "MEDGEN:1722257" "OMIM:619110" "UMLS:C5436834" "GARD:16421" + "PMID:24816252" "GARD:17417" "MEDGEN:766184" "OMIM:614616" @@ -93169,16 +93170,16 @@ "NANDO:2100132" "UMLS:C0857899" "MESH:D006994" + "UMLS:C0393584" + "OMIM:215450" + "OMIM:118700" + "ICD10:G25.5" "MEDGEN:462056" "GARD:12640" "UMLS:C3150706" "OMIM:613456" "DOID:0081047" "Orphanet:306542" - "UMLS:C0393584" - "OMIM:215450" - "OMIM:118700" - "ICD10:G25.5" "PMID:37794183" "MEDGEN:324953" "OMIM:600419" @@ -93193,6 +93194,7 @@ "Orphanet:79395" "MESH:C565826" "PMID:29875488" + "PMID:33634981" "ICD10:M43" "MONDO:0005172" "SCTID:88230002" @@ -93209,7 +93211,6 @@ "SNOMEDCT:68566005" "MeSH:D014552" "MONDO:0100338" - "PMID:33634981" "UMLS:C0206081" "NCIt:C113215" "MedDRA:10065597" @@ -93585,14 +93586,14 @@ "CLO:0050539" "CLO:0050537" "PMID:26068415" - "MESH:D031941" - "DOID:3568" - "MeSH:D031941" - "MONDO:0006010" "MeSH:C536575" "UMLS:C0265339" "ICD10:Q87.8" "OMIM:301900" + "MESH:D031941" + "DOID:3568" + "MeSH:D031941" + "MONDO:0006010" "UMLS:C1865233" "OMIM:602541" "GARD:10317" @@ -93755,13 +93756,13 @@ "MESH:D009182" "NORD:1479" "Orphanet:2584" - "PMID:37794183" "MeSH:D019349" "UMLS:C0376549" "MONDO:0005949" "DOID:5120" "MEDGEN:83999" "MESH:D019349" + "PMID:37794183" "DOID:0060699" "SCTID:237885008" "UMLS:C1809471" @@ -93921,11 +93922,10 @@ "CAS:17090-79-8" "LINCS:LSM-5659" "KEGG:C06693" + "KEGG COMPOUND:C17962" "ICD10:Q87.0" "OMIM:300484" "UMLS:C0796101" - "KEGG COMPOUND:C17962" - "PMID:29875488" "SCTID:715474004" "OMIM:228900" "GARD:9879" @@ -93939,6 +93939,7 @@ "MEDGEN:148408" "NCIT:C84622" "UMLS:C0751878" + "PMID:29875488" "GARD:8594" "MEDGEN:383668" "UMLS:C1855369" @@ -93999,11 +94000,11 @@ "MONDO:0005745" "MESH:D017189" "DOID:1253" - "PMID:28240269" "ICD10:Q87.8" "OMIM:123150" "MeSH:C537559" "UMLS:C0795998" + "PMID:28240269" "UMLS:C0037822" "NCIT:C5041" "DOID:92" @@ -94178,7 +94179,6 @@ "ICD10CM:K14.4" "UMLS:C0155964" "SCTID:9491003" - "PMID:37794183" "GARD:16223" "OMIM:617350" "MEDGEN:1376462" @@ -94194,6 +94194,7 @@ "SCTID:181977005" "SCTID:425761003" "EMAPA:36158" + "PMID:37794183" "CAS:5655-17-4" "HMDB:HMDB0010384" "LIPID_MAPS_instance:LMGP01050026" @@ -94362,7 +94363,6 @@ "UMLS:C5680029" "GARD:17626" "PMID:35347128" - "PMID:33634981" "MEDGEN:383079" "SCTID:711482008" "Orphanet:313838" @@ -94371,6 +94371,7 @@ "ICD9:348.89" "OMIMPS:612199" "MESH:C567401" + "PMID:33634981" "Orphanet:320346" "PMID:29875488" "NCIT:C7073" @@ -94460,6 +94461,7 @@ "ZFS:0000031" "PMID:29875488" "PMID:35347128" + "PMID:29875488" "DOID:4808" "UMLS:C0014378" "MEDGEN:8647" @@ -94470,11 +94472,12 @@ "MeSH:D004769" "UMLS:C4021817" "PMID:37253714" - "PMID:29875488" "https://en.wikipedia.org/wiki/Viral_load" "PMID:31260374" "MedDRA:10062178" "MO:477" + "OMIM:615362" + "ICD10:E75.4" "MA:0000408" "EV:0100107" "EHDAA:9380" @@ -94484,8 +94487,6 @@ "EMAPA:18682" "FMA:9707" "MAT:0000186" - "OMIM:615362" - "ICD10:E75.4" "DOID:6500" "MEDGEN:234108" "NCIT:C5146" @@ -95224,6 +95225,7 @@ "OMIM:619725" "UMLS:C4023476" "PMID:35668104" + "OMIM:607823" "SNOMEDCT:442143003" "EMAPA:28393" "Wikipedia:Distal_convoluted_tubule" @@ -95233,7 +95235,6 @@ "NCIT:C32469" "EV:0100389" "UMLS:C0022676" - "OMIM:607823" "MeSH:D052958" "GARD:21705" "Orphanet:401923" @@ -95262,10 +95263,6 @@ "GARD:17261" "MEDGEN:453209" "PMID:29875488" - "UMLS:C2931373" - "OMIM:607214" - "MeSH:C536948" - "ICD10:Q87.8" "Orphanet:261120" "OMIM:613457" "SCTID:719047001" @@ -95273,6 +95270,10 @@ "GARD:17241" "UMLS:C3150707" "DOID:0060392" + "UMLS:C2931373" + "OMIM:607214" + "MeSH:C536948" + "ICD10:Q87.8" "DECIPHER:44" "UMLS:C2931817" "MESH:C538317" @@ -95468,15 +95469,15 @@ "SNOMEDCT:415604001" "UMLS:C4020874" "UMLS:C1854301" - "PMID:29875488" "PMID:37164013" + "PMID:29875488" + "PMID:23823483" "UMLS:C1333097" "Orphanet:100080" "GARD:19755" "NCIT:C5697" "DOID:4118" "MEDGEN:234162" - "PMID:23823483" "SCTID:70090004" "MESH:D015605" "ICD9:051.01" @@ -95750,6 +95751,10 @@ "OMIM:604121" "DOID:0050968" "MEDGEN:813625" + "UMLS:C0029438" + "MedDRA:10071283" + "ICD10:M89.5" + "OMIM:123880" "MESH:C562866" "UMLS:C0398635" "SCTID:234477002" @@ -95765,10 +95770,6 @@ "GARD:175" "NANDO:2201237" "MedDRA:10067532" - "UMLS:C0029438" - "MedDRA:10071283" - "ICD10:M89.5" - "OMIM:123880" "GARD:15144" "DOID:0060608" "UMLS:C1859452" @@ -95776,17 +95777,17 @@ "MEDGEN:347149" "SCTID:254102008" "NCIt:C25488" + "MedDRA:10050469" + "OMIM:142900" + "MeSH:C535326" + "UMLS:C0265264" + "ICD10:Q87.2" "DOID:0070237" "UMLS:C3151087" "OMIM:613795" "MEDGEN:462437" "Orphanet:284984" "GARD:10997" - "MedDRA:10050469" - "OMIM:142900" - "MeSH:C535326" - "UMLS:C0265264" - "ICD10:Q87.2" "BTO:0000849" "MEDGEN:277630" "SCTID:423708008" @@ -96462,7 +96463,6 @@ "UMLS:C0699790" "Orphanet:102284" "PMID:29875488" - "PMID:31294817" "MeSH:D048089" "DOID:13274" "SNOMEDCT_US:128334002" @@ -96471,6 +96471,7 @@ "UMLS:C5882713" "OMIM:620569" "MEDGEN:1845294" + "PMID:31294817" "GARD:12568" "OMIM:612953" "MEDGEN:414488" @@ -96553,11 +96554,6 @@ "Orphanet:263501" "MEDGEN:929221" "UMLS:C4303552" - "MEDGEN:1387956" - "SCTID:733467001" - "UMLS:C4518793" - "GARD:20585" - "Orphanet:228277" "NORD:1884" "Orphanet:358" "MedDRA:10062906" @@ -96572,6 +96568,11 @@ "GARD:8547" "DOID:0050450" "NANDO:2200145" + "MEDGEN:1387956" + "SCTID:733467001" + "UMLS:C4518793" + "GARD:20585" + "Orphanet:228277" "ICD10:Q24.8" "SCTID:74774004" "icd11.foundation:915116593" @@ -96927,10 +96928,10 @@ "UMLS:C1858033" "OMIM:615547" "ICD10:Q87.1" - "PMID:29875488" "UMLS:C4310787" "MEDGEN:934754" "OMIM:616939" + "PMID:29875488" "PMID:35995766" "Orphanet:35107" "GARD:10283" @@ -97135,24 +97136,17 @@ "UMLS:C4024216" "ICD10:N43" "MeSH:D006848" - "MEDGEN:1668571" - "Orphanet:401935" - "UMLS:C4750911" - "GARD:21706" "SCTID:254856004" "MONDO:0006477" "MEDGEN:83410" "NCIT:C4509" "UMLS:C0346167" "EFO:1000605" + "MEDGEN:1668571" + "Orphanet:401935" + "UMLS:C4750911" + "GARD:21706" "PMID:37794183" - "Wikipedia:Aortic_arches#Arch_5" - "AAO:0010421" - "VHOG:0000145" - "SCTID:308778000" - "TAO:0005009" - "XAO:0000352" - "ZFA:0005009" "MeSH:D055496" "ICD9:564.81" "UMLS:C0695242" @@ -97164,6 +97158,13 @@ "MESH:D055496" "DOID:13419" "SCTID:425671009" + "Wikipedia:Aortic_arches#Arch_5" + "AAO:0010421" + "VHOG:0000145" + "SCTID:308778000" + "TAO:0005009" + "XAO:0000352" + "ZFA:0005009" "PMID:28240269" "DOID:0070053" "MEDGEN:816736" @@ -97698,12 +97699,12 @@ "OMIM:213400" "SCTID:73495003" "MeSH:D002527" - "PMID:29875488" "OMIM:611788" "MESH:C567085" "UMLS:C2673186" "MEDGEN:435866" "GARD:15527" + "PMID:29875488" "ICD10:N72" "UMLS:C0007860" "SNOMEDCT_US:37610005" @@ -98179,7 +98180,6 @@ "SNOMEDCT_US:991000119106" "SNOMEDCT_US:195967001" "UMLS:C3714497" - "UMLS:C4082144" "MEDGEN:424835" "MESH:C536861" "DOID:0110776" @@ -98188,6 +98188,7 @@ "SCTID:732933009" "OMIM:608220" "GARD:9582" + "UMLS:C4082144" "UMLS:C0030305" "SNOMEDCT_US:75694006" "Wikipedia:Galactose" @@ -98526,11 +98527,11 @@ "DOID:277" "MONDO:0006375" "EFO:1000480" + "NCIt:C5716" "UMLS:C1837015" "OMIM:608984" "DOID:0111170" "MEDGEN:332346" - "NCIt:C5716" "Wikipedia:Erythropoiesis" "DOID:1965" "MEDGEN:274488" @@ -99265,8 +99266,6 @@ "OMIM:619527" "MEDGEN:1794197" "PMID:34565479" - "OMIM:602562" - "ICD10:Q87.0" "SNOMEDCT:432592000" "ICD10CM:H35.5" "SCTID:193413001" @@ -99283,6 +99282,8 @@ "MedDRA:10070667" "NCIt:C45247" "SNOMEDCT:447612001" + "OMIM:602562" + "ICD10:Q87.0" "PMID:34202464" "HP:0032370" "UMLS:C4225396" @@ -99839,14 +99840,15 @@ "OMIM:301026" "UMLS:C1850627" "OMIM:255980" - "SCTID:362181001" - "MA:0000154" - "EV:0100156" "OMIM:278750" "UMLS:C0432328" "ICD10:Q82.1" "UMLS:C1848410" "MeSH:C536766" + "SCTID:362181001" + "MA:0000154" + "EV:0100156" + "PMID:29875488" "SCTID:233604007" "UMLS:C0032285" "MedDRA:10035664" @@ -99867,7 +99869,6 @@ "SNOMEDCT:233604007" "MEDGEN:10813" "MESH:D011014" - "PMID:29875488" "MONDO:0017332" "Orphanet:289478" "MO:933" @@ -100876,9 +100877,9 @@ "UMLS:C0023452" "MEDGEN:44122" "NCIT:C3168" - "PMID:37794183" "PMID:33441150" "PMID:24627715" + "PMID:37794183" "PMID:26921259" "MEDGEN:1799995" "UMLS:C5568572" @@ -101358,6 +101359,7 @@ "PMID:28240269" "NCIt:C347" "ICD10:Q04.8" + "PMID:29875488" "MESH:D006053" "Orphanet:374" "DOID:2907" @@ -101371,7 +101373,6 @@ "UMLS:C0265240" "GARD:12074" "Orphanet:141132" - "PMID:29875488" "PMID:29378355" "TAO:0000117" "ZFA:0000117" @@ -101678,9 +101679,9 @@ "GARD:3986" "SCTID:416377005" "NCIT:C3840" - "PMID:29875488" "NCIt:C69141" "MO:893" + "PMID:29875488" "UMLS:C1855848" "OMIM:241310" "GARD:2907" @@ -101802,8 +101803,8 @@ "DOID:2962" "NCIt:C9460" "MeSH:D003057" - "OMIM:604320" "PMID:23823483" + "OMIM:604320" "MO:213" "NCIt:C20134" "MeSH:D012907" @@ -101827,8 +101828,8 @@ "PMID:22028494" "CiteXplore:22190039 \"PubMed citation\"" "PMID:22075006" - "PMID:22190039" "PDBeChem:TTC" + "PMID:22190039" "MeSH:D019772" "DrugBank:DB01030" "PMID:21910214" @@ -101963,11 +101964,11 @@ "OMIM:614616" "ICD10:P78.3" "MAT:0000518" - "PMID:24816252" "GARD:20426" "UMLS:C5680839" "MEDGEN:1842905" "Orphanet:209041" + "PMID:24816252" "SCTID:267395000" "GARD:20226" "Orphanet:181412" @@ -101977,9 +101978,6 @@ "MESH:D047808" "UMLS:C0302280" "ICD9:255.2" - "UMLS:C1841989" - "OMIM:137940" - "MeSH:C536825" " CLO:0050249" "RRID:CVCL_3155" "CLO:0008820" @@ -101995,6 +101993,9 @@ "XAO:0003030" "EMAPA:17412" "BTO:0001729" + "UMLS:C1841989" + "OMIM:137940" + "MeSH:C536825" "MeSH:D020203" "PMID:37794183" "MEDGEN:60009" @@ -102608,11 +102609,11 @@ "GARD:17763" "UMLS:C5568981" "PMID:19347970" + "PMID:34260947" "UMLS:C5436647" "OMIM:619033" "MEDGEN:1776566" "DOID:0081397" - "PMID:34260947" "UMLS:C0013415" "MEDGEN:8517" "MESH:D019263" @@ -102650,8 +102651,8 @@ "PMID:12681244" "WBbt:0006797" "MESH:D009865" - "ZFA:0001109" "ZFA:0009008" + "ZFA:0001109" "FMA:18644" "FBbt:00004886" "BTO:0000964" @@ -103209,13 +103210,13 @@ "UMLS:C0231686" "SNOMEDCT_US:394616008" "SNOMEDCT_US:22631008" - "PMID:29875488" "MeSH:C025999" "KEGG:C01226" "CAS:67204-66-4" "Beilstein:4354678" "NCIt:C30176" "KNApSAcK:C00000365" + "PMID:29875488" "EC:1.5.1.34" "MetaCyc:1.5.1.34-RXN" "Reactome:R-HSA-71130" @@ -103824,9 +103825,9 @@ "OMIM:614253" "ICD10:K00.5" "PMID:29875488" - "PMID:29875488" "UMLS:C0221259" "SNOMEDCT_US:60332004" + "PMID:29875488" "WBls:0000024" "ICD10CM:G11.4" "UMLS:C3554449" @@ -104028,7 +104029,6 @@ "Orphanet:86919" "GARD:16766" "MESH:C563646" - "ICD10:Q93.5" "PMID:35995766" "PMID:28240269" "EFO:0003628" @@ -104039,6 +104039,7 @@ "EMAPA:35633" "TAO:0001112" "MA:0001460" + "ICD10:Q93.5" "SNOMEDCT:55235003" "NCIt:C64548" "PMID:36168886" @@ -104063,7 +104064,6 @@ "NANDO:1200011" "NCIT:C129069" "UMLS:C0393570" - "PMID:37794183" "Reactome:R-HSA-2161791" "MetaCyc:GLUTATHIONE-PEROXIDASE-RXN" "Reactome:R-HSA-2161999" @@ -104077,6 +104077,7 @@ "Reactome:R-HSA-2161946" "Reactome:R-HSA-6799695" "Reactome:R-HSA-3343700" + "PMID:37794183" "PMID:23696881" "ICD10:I71.2" "ICD10:I71.1" @@ -104658,13 +104659,6 @@ "MEDGEN:444152" "UMLS:C2931828" "PMID:29875488" - "DOID:0060570" - "MeSH:D014381" - "DOID:414" - "MEDGEN:1830134" - "MONDO:0000813" - "UMLS:C5704594" - "MESH:D014381" "DOID:3861" "NCIT:C3706" "ICDO:9472/3" @@ -104674,6 +104668,13 @@ "UMLS:C0205833" "ONCOTREE:MMB" "UMLS:C2674432" + "DOID:0060570" + "MeSH:D014381" + "DOID:414" + "MEDGEN:1830134" + "MONDO:0000813" + "UMLS:C5704594" + "MESH:D014381" "PMID:37164013" "NCIT:C8405" "UMLS:C0346290" @@ -104730,6 +104731,15 @@ "MEDGEN:1759100" "UMLS:C5436652" "OMIM:619036" + "ICD9:379.29" + "ICD10:H43" + "NCIT:C45256" + "MONDO:0044137" + "UMLS:C0155365" + "ICD10:H45" + "MEDGEN:56361" + "NCIt:C45256" + "SCTID:76682005" "SNOMEDCT:300920004" "SCTID:371160000" "MONDO:0005269" @@ -104742,15 +104752,6 @@ "ICD9:447.9" "MeSH:D002340" "NCIt:C84476" - "ICD9:379.29" - "ICD10:H43" - "NCIT:C45256" - "MONDO:0044137" - "UMLS:C0155365" - "ICD10:H45" - "MEDGEN:56361" - "NCIt:C45256" - "SCTID:76682005" "PMID:34610981" "BM:Tel-C-Pu" "BAMS:CPu" @@ -104800,6 +104801,8 @@ "OMIM:601378" "MeSH:C536214" "ICD10:G90.8" + "PMID:37794183" + "OMIM:141200" "Wikipedia:Miliaria" "MONDO:0006580" "MEDGEN:44443" @@ -104811,8 +104814,6 @@ "NCIT:C34820" "SCTID:63951004" "MedDRA:10027627" - "PMID:37794183" - "OMIM:141200" "PMID:29875488" "PMID:29875488" "Orphanet:98623" @@ -105742,7 +105743,6 @@ "ICD10:E34.3" "OMIM:245590" "ICD10:D82.8" - "PMID:29875488" "OMIA:001733" "CiteXplore:11493684" "PMID:15626898" @@ -105951,6 +105951,7 @@ "UMLS:C0041602" "MA:0001174" "PMID:37253714" + "PMID:29875488" "SCTID:715980003" "GARD:16549" "MEDGEN:894927" @@ -106592,8 +106593,8 @@ "UMLS:C0011350" "MA:0002543" "VSAO:0000065" - "Wikipedia:Enamel_organ" "XAO:0004198" + "Wikipedia:Enamel_organ" "MESH:D003743" "BTO:0001844" "FMA:55629" @@ -106634,11 +106635,11 @@ "OMIM:620014" "UMLS:C5774203" "DOID:0081030" - "PMID:24816252" "ICD10:Q87.8" "OMIM:311900" "MeSH:C536942" "UMLS:C1839463" + "PMID:24816252" "PMID:33634981" "MEDGEN:1842423" "UMLS:C5681010" @@ -107297,7 +107298,6 @@ "PMID:22268687" "PMID:35347128" "PMID:35668104" - "NCIt:C129690" "Orphanet:210548" "MEDGEN:381416" "MESH:C565342" @@ -107309,6 +107309,7 @@ "UMLS:C4750848" "MEDGEN:1655582" "Orphanet:370010" + "NCIt:C129690" "NCIt:C122523" "MedDRA:10058931" "MEDGEN:509492" @@ -107932,15 +107933,15 @@ "MedDRA:10021750" "MEDGEN:11519" "PMID:37794183" - "PMID:37794183" "SNOMEDCT_US:267384006" "UMLS:C0020617" - "MEDGEN:1719756" - "UMLS:C5394215" - "OMIM:618827" + "PMID:37794183" "OMIM:615529" "UMLS:C3809819" "MEDGEN:816149" + "MEDGEN:1719756" + "UMLS:C5394215" + "OMIM:618827" "GARD:8231" "DOID:4330" "MESH:D015616" @@ -108233,6 +108234,7 @@ "EHDAA2:0001707" "UMLS:C1849121" "UMLS:C1837463" + "PMID:29875488" "Orphanet:217385" "UMLS:C3808300" "MESH:C567705" @@ -108241,7 +108243,6 @@ "SCTID:719582007" "GARD:17122" "OMIM:613215" - "PMID:29875488" "PMID:37794183" "NCIt:C101888" "OMIMPS:607602" @@ -108403,12 +108404,12 @@ "UMLS:C1334159" "NCIT:C35686" "MEDGEN:232641" - "OMIM:614810" - "UMLS:C3553728" - "MEDGEN:766642" "OMIM:612913" "ICD10:Q87.0" "UMLS:C2752048" + "OMIM:614810" + "UMLS:C3553728" + "MEDGEN:766642" "OMIM:618829" "MEDGEN:1714169" "Orphanet:662175" @@ -108557,8 +108558,6 @@ "ICD10:Q87.8" "PMID:19347970" "SNOMEDCT:81454004" - "ICD10:E23.0" - "OMIM:300123" "NCIT:C131533" "GARD:10140" "SCTID:720565000" @@ -108568,6 +108567,8 @@ "NORD:1981" "MESH:C537419" "MEDGEN:208678" + "ICD10:E23.0" + "OMIM:300123" "PMID:33283231" "UMLS:C0742028" "ICD10:Q93.5" @@ -108628,6 +108629,7 @@ "NCIT:C150646" "UMLS:C4721887" "DOID:0110155" + "PMID:37164013" "NCIT:C5673" "MEDGEN:224904" "SCTID:399432003" @@ -108636,7 +108638,11 @@ "MONDO:0005484" "DOID:0050860" "UMLS:C1302401" - "PMID:37164013" + "MedDRA:10061976" + "DOID:1234" + "UMLS:C0017250" + "NCIt:C94362" + "ICD10:F64" "EMAPA:18256" "BTO:0001978" "NCIT:C12375" @@ -108657,11 +108663,6 @@ "MESH:C535780" "ICD9:758.89" "OMIM:272460" - "MedDRA:10061976" - "DOID:1234" - "UMLS:C0017250" - "NCIt:C94362" - "ICD10:F64" "MEDGEN:3623" "NCIT:C35505" "ICD9:414.00" @@ -108694,24 +108695,11 @@ "UMLS:C1867023" "OMIM:181180" "ICD10:Q87.8" - "OMIM:202400" - "ICD10:D68.2" "GARD:16664" "Orphanet:60033" "SCTID:233629001" "UMLS:C0339985" "MEDGEN:573462" - "UMLS:C0015230" - "ICD9:782.1" - "DOID:0050486" - "Wikipedia:Exanthem" - "MEDGEN:8732" - "SCTID:271807003" - "MESH:D005076" - "NCIT:C39594" - "MedDRA:10015585" - "MONDO:0006547" - "HP:0000988" "PMID:35347128" "OMIM:151380" "ICD10:C92.7" @@ -108764,10 +108752,23 @@ "SCTID:764940002" "GARD:17450" "Orphanet:319465" + "UMLS:C0015230" + "ICD9:782.1" + "DOID:0050486" + "Wikipedia:Exanthem" + "MEDGEN:8732" + "SCTID:271807003" + "MESH:D005076" + "NCIT:C39594" + "MedDRA:10015585" + "MONDO:0006547" + "HP:0000988" "UMLS:C0040425" "SNOMEDCT_US:90176007" "ICD10:J03" "PMID:27618450" + "OMIM:202400" + "ICD10:D68.2" "PMID:35347128" "MCC:0000356" "NCIt:C14352" @@ -108982,7 +108983,6 @@ "MedDRA:10059255" "OMIM:601499" "RRID:CVCL_E729" - "MA:0002541" "Wikipedia:Cementum" "BTO:0002525" "NCIT:C32276" @@ -108994,14 +108994,15 @@ "CALOHA:TS-2163" "MESH:D003739" "FMA:55630" + "MA:0002541" "UMLS:C1858695" "OMIM:604213" - "Orphanet:137608" - "UMLS:CN199243" - "SCTID:763867001" "PMID:35446786" "Orphanet:331244" "Orphanet:295067" + "Orphanet:137608" + "UMLS:CN199243" + "SCTID:763867001" "FBbt:00000111" "EFO:0000414" "MAT:0000173" @@ -109323,20 +109324,20 @@ "MedDRA:10064572" "OMIM:608156" "ICD10:Q93.5" + "PMID:29875488" "PMID:33634981" "OMIMPS:275200" - "PMID:29875488" + "PMID:29875488" "NCIt:C86544" "MeSH:D009166" "SNOMEDCT:58242002" - "PMID:29875488" + "RRID:CVCL_E823" "SNOMEDCT:27040004" "NCIt:C3006" "SNOMEDCT:50776006" "MeSH:D004681" "MONDO:0005134" "MESH:D004681" - "RRID:CVCL_E823" "NCIT:C9099" "UMLS:C0347096" "icd11.foundation:1626158287" @@ -109488,11 +109489,6 @@ "ICD10CM:G83.81" "MedDRA:10006491" "MEDGEN:69225" - "MONDO:0006159" - "NCIT:C27735" - "UMLS:C1333109" - "MEDGEN:272496" - "EFO:1000192" "MP:0006202" "ICD10:H43.1" "HP:0007902" @@ -109514,6 +109510,11 @@ "Orphanet:50814" "GARD:16647" "DOID:0070307" + "MONDO:0006159" + "NCIT:C27735" + "UMLS:C1333109" + "MEDGEN:272496" + "EFO:1000192" "SCTID:361331000" "MA:0001660" "FMA:15626" @@ -109648,10 +109649,10 @@ "UMLS:C0268029" "SCTID:26436007" "MEDGEN:541141" - "PMID:35347128" "Reaxys:9025730" "HMDB:HMDB0061701" "LIPID_MAPS_instance:LMGP01050082" + "PMID:35347128" "PMID:35668104" "UMLS:C0085619" "SNOMEDCT_US:62744007" @@ -110190,8 +110191,6 @@ "SCTID:244798004" "MESH:D010609" "MA:0001797" - "OMIM:607364" - "ICD10:E26.8" "UMLS:C0344730" "NANDO:2200267" "Orphanet:99105" @@ -110200,6 +110199,8 @@ "MEDGEN:138011" "icd11.foundation:1930019148" "SCTID:95268002" + "OMIM:607364" + "ICD10:E26.8" "UMLS:C0085602" "SNOMEDCT_US:267026004" "SNOMEDCT_US:17173007" @@ -110223,11 +110224,11 @@ "PMID:35347128" "PMID:35347128" "NCIt:C117184" - "PMID:21177962" - "PMID:25262759" "OMIM:177650" "MEDGEN:864692" "UMLS:C4016255" + "PMID:21177962" + "PMID:25262759" "HMDB:0036583" "EV:0100089" "XAO:0000133" @@ -110358,10 +110359,10 @@ "OMIM:614381" "OMIM:607694" "ICD10:G11.1" - "MeSH:D007893" "RRID:CVCL_2235" "CLO:0037117" "BTO:0003215" + "MeSH:D007893" "MEDGEN:1843096" "GARD:21149" "UMLS:C5679941" @@ -110549,8 +110550,8 @@ "UMLS:C4304579" "MEDGEN:930248" "SCTID:719597005" - "PMID:34801968" "PMID:23823483" + "PMID:34801968" "UMLS:C1567741" "NCIT:C34842" "ICD10CM:Q87.81" @@ -110586,14 +110587,14 @@ "NCIT:C131085" "ICD9:277.6" "SCTID:124214007" + "MEDGEN:355700" + "OMIM:601744" + "UMLS:C1866373" "MEDGEN:65947" "NCIT:C3866" "SCTID:276805005" "UMLS:C0238114" "DOID:960" - "MEDGEN:355700" - "OMIM:601744" - "UMLS:C1866373" "BAMS:MES" "TAO:0000148" "EFO:0003432" @@ -111244,14 +111245,17 @@ "UMLS:C4540014" "OMIM:300537" "ICD10:Q79.6" - "UMLS:C1856727" - "OMIM:228940" - "ICD10:Q87.8" "ZFA:0001211" "UMLS:C3151379" "OMIM:613949" "MEDGEN:462729" + "UMLS:C1856727" + "OMIM:228940" + "ICD10:Q87.8" "PMID:29875488" + "UMLS:C1855467" + "OMIM:248110" + "ICD10:Q87.0" "UMLS:C0040156" "SCTID:90739004" "ICD9:242" @@ -111265,9 +111269,6 @@ "icd11.foundation:1470387017" "MONDO:0010138" "ICD9:242.80" - "UMLS:C1855467" - "OMIM:248110" - "ICD10:Q87.0" "OMIM:300960" "PMID:23823483" "NCIt:C34789" @@ -111670,6 +111671,7 @@ "UMLS:C0268274" "MEDGEN:78656" "PMID:29875488" + "PMID:35264221" "UMLS:C0031110" "EMAPA:35681" "FMA:24041" @@ -111684,7 +111686,6 @@ "UMLS:C1739148" "NCIt:C97140" "MedDRA:10066665" - "PMID:35264221" "NANDO:1200579" "GARD:10865" "MEDGEN:96605" @@ -111874,13 +111875,13 @@ "OMIM:612900" "OMIM:603513" "MedDRA:10074398" + "ICD10:Q79.6" + "OMIM:614557" "MEDGEN:859271" "DOID:0070325" "GTR:AN0102113" "NCIT:C118822" "UMLS:C3899677" - "ICD10:Q79.6" - "OMIM:614557" "CAS:9002-60-2" "KEGG:C02017" "KEGG:D00146" @@ -112824,10 +112825,6 @@ "MEDGEN:83709" "UMLS:C0280787" "DOID:5890" - "MEDGEN:232099" - "DOID:11200" - "UMLS:C1333147" - "NCIT:C27872" "MESH:C537302" "Orphanet:79477" "NANDO:2200732" @@ -112839,6 +112836,10 @@ "MEDGEN:357030" "ICD10CM:E70.3" "DOID:0060833" + "MEDGEN:232099" + "DOID:11200" + "UMLS:C1333147" + "NCIT:C27872" "Wikipedia:NMDA_receptor" "GARD:17432" "MEDGEN:1673111" @@ -113034,6 +113035,8 @@ "GARD:0009396" "Orphanet:401920" "Orphanet:93926" + "ICD10:Q87.1" + "PMID:35347128" "UMLS:C0554472" "DOID:421" "ICD9:704.8" @@ -113042,7 +113045,6 @@ "ICD9:704.9" "MESH:D006201" "NCIT:C34656" - "PMID:35347128" "PMID:26115505" "PMID:26066674" "MetaCyc:CPD-396" @@ -113080,7 +113082,6 @@ "HMDB:HMDB0000699" "PMID:25129409" "LIPID_MAPS_instance:LMST03020024" - "ICD10:Q87.1" "ICD9:098.89" "MEDGEN:9077" "MeSH:D006069" @@ -113257,8 +113258,8 @@ "CAS:2140-46-7" "KEGG:C15519" "UMLS:C1866010" - "PMID:24816252" "PMID:37164013" + "PMID:24816252" "SCTID:403900000" "ICDO:8074/3" "ICD9:199.1" @@ -113543,9 +113544,9 @@ "Orphanet:2050" "icd11.foundation:1458793358" "MESH:C535963" + "NCIt:C94815" "PMID:32887874" "NCIt:C165532" - "NCIt:C94815" "UMLS:C3160718" "Orphanet:411602" "SCTID:716662004" @@ -113602,9 +113603,6 @@ "BTO:0005671" "CLO:0051454" "RRID:CVCL_0375" - "MedDRA:10037556" - "SNOMEDCT:13507004" - "MESH:D055665" "Orphanet:596" "GARD:11925" "MEDGEN:98374" @@ -113613,6 +113611,9 @@ "NCIT:C118781" "DOID:0111225" "SCTID:46804001" + "MedDRA:10037556" + "SNOMEDCT:13507004" + "MESH:D055665" "KEGG:C00086" "Gmelin:1378" "PDBeChem:URE" @@ -113631,9 +113632,9 @@ "DrugBank:DB03904" "Drug_Central:4264" "PMID:22770225" - "PMID:37164013" "OMIM:211170" "ICD10:Q87.8" + "PMID:37164013" "UMLS:C5191668" "MEDGEN:1676303" "GARD:20484" @@ -113732,12 +113733,12 @@ "Orphanet:279919" "icd11.foundation:1722408748" "MEDGEN:1701702" - "PMID:35995766" - "ICD10:G11.1" - "PMID:28240269" "OMIM:232240" "ICD10:E74.0" "OMIM:232220" + "PMID:35995766" + "ICD10:G11.1" + "PMID:28240269" "MEDGEN:325276" "UMLS:C1837872" "OMIM:608556" @@ -113974,8 +113975,8 @@ "UMLS:C0034183" "MESH:D011702" "DOID:2744" - "NCIt:C34964" "MeSH:D011702" + "NCIt:C34964" "MedDRA:10037584" "SNOMEDCT:27174002" "Orphanet:183487" @@ -114197,11 +114198,11 @@ "UMLS:C5561967" "MEDGEN:1794177" "OMIM:619488" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02852&Product=CC" "UMLS:C5680651" "Orphanet:156165" "MEDGEN:1843204" "GARD:19987" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02852&Product=CC" "PMID:29875488" "CLO:0009709" "RRID:CVCL_1893" @@ -114805,7 +114806,6 @@ "SCTID:48611009" "NCIT:C84665" "Orphanet:218" - "PMID:36006120" "ICD9:733.6" "UMLS:C0040213" "NCIT:C168333" @@ -114813,6 +114813,7 @@ "MESH:D013991" "MEDGEN:52753" "SCTID:30128009" + "PMID:36006120" "Orphanet:295150" "icd11.foundation:866920497" "Patent:US2954384" @@ -115245,7 +115246,6 @@ "MESH:C566000" "UMLS:C3280114" "PMID:29875488" - "PMID:30678657" "OMIM:604403" "MEDGEN:388117" "GARD:18661" @@ -115253,6 +115253,7 @@ "UMLS:C1858673" "DOID:0111294" "MeSH:D004331" + "PMID:30678657" "PMID:35050183" "OMIMPS:156200" "DOID:0070072" @@ -115604,6 +115605,11 @@ "CALOHA:TS-2032" "FBbt:00005074" "FMA:67328" + "TGMA:0000720" + "ZFA:0001114" + "MAT:0000017" + "FBbt:00003007" + "MA:0000316" "SCTID:420422005" "ICD9:250.1" "NCIt:C50530" @@ -115617,11 +115623,6 @@ "MONDO:0012819" "SNOMEDCT:420422005" "MEDGEN:8351" - "TGMA:0000720" - "ZFA:0001114" - "MAT:0000017" - "FBbt:00003007" - "MA:0000316" "UMLS:C0341703" "MEDGEN:137960" "NCIT:C4377" @@ -116234,9 +116235,9 @@ "PMID:35264221" "UMLS:C4280575" "UMLS:C1838578" - "PMID:29875488" "PMID:37794183" "PMID:37794183" + "PMID:29875488" "PMID:35995766" "GARD:20965" "UMLS:C5680741" @@ -116611,15 +116612,15 @@ "MEDGEN:1632060" "icd11.foundation:1325415519" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM25256&Product=CC" - "ICD10:N46" "PMID:28240269" + "ICD10:N46" "PMID:33634981" "FMA:75639" "EMAPA:17593" "VHOG:0000791" "SCTID:279810008" - "EHDAA2:0000441" "AAO:0000551" + "EHDAA2:0000441" "MA:0001188" "GAID:887" "EHDAA:7761" @@ -116667,7 +116668,6 @@ "Orphanet:391665" "ATCC:TIB-152" "PMID:35320353" - "PMID:23823483" "EV:0100055" "VHOG:0000120" "galen:Spleen" @@ -116689,6 +116689,7 @@ "BTO:0001281" "UMLS:C0037993" "EMAPA:18767" + "PMID:23823483" "Orphanet:280763" "MEDGEN:272542" "NCIT:C5128" @@ -116864,8 +116865,8 @@ "UMLS:C0339124" "NCIT:C4360" "MEDGEN:83280" - "PMID:35347128" "PMID:36168886" + "PMID:35347128" "PMID:25493955" "PMID:37794183" "OMIM:618050" @@ -116997,6 +116998,11 @@ "MEDGEN:815699" "OMIM:615399" "OMIM:260530" + "MEDGEN:333352" + "MESH:C537853" + "UMLS:C1839580" + "DOID:0111790" + "OMIM:310700" "BTO:0001541" "MAT:0000117" "TAO:0000151" @@ -117006,11 +117012,6 @@ "EMAPA:16579" "XAO:0002000" "ZFA:0000151" - "MEDGEN:333352" - "MESH:C537853" - "UMLS:C1839580" - "DOID:0111790" - "OMIM:310700" "GARD:12928" "Orphanet:94" "MedDRA:10003571" @@ -117263,8 +117264,8 @@ "TAO:0000279" "VHOG:0000559" "XAO:0000057" - "EMAPA:16752" "AAO:0011086" + "EMAPA:16752" "EMAPA:16189" "EFO:0001982" "Orphanet:251009" @@ -117672,7 +117673,6 @@ "GARD:16110" "PMID:37794183" "PMID:29875488" - "PMID:34503513" "PMID:37794183" "UMLS:C3693482" "ICDO:8832/3" @@ -117706,6 +117706,7 @@ "GARD:21667" "Orphanet:399380" "MEDGEN:1842788" + "PMID:34503513" "SNOMEDCT_US:289190003" "UMLS:C0454555" "SNOMEDCT_US:229645001" @@ -118213,6 +118214,8 @@ "ICD10:M62" "PMID:37794183" "PMID:35347128" + "OMIM:609541" + "ICD10:G11.4" "PMID:29875488" "PMID:29875488" "MeSH:D020945" @@ -118221,8 +118224,8 @@ "GARD:22575" "MEDGEN:934640" "OMIM:617188" - "OMIM:609541" - "ICD10:G11.4" + "PMID:24816252" + "PMID:22232676" "GARD:18017" "MEDGEN:1754121" "Orphanet:597733" @@ -118231,8 +118234,6 @@ "OMIM:619491" "MEDGEN:1794179" "UMLS:C5561969" - "PMID:24816252" - "PMID:22232676" "PMID:29875488" "PMID:35264221" "DOID:0070296" @@ -118267,8 +118268,8 @@ "MESH:D016575" "ICD9:705.83" "SCTID:69741000" - "MEDGEN:43115" "UMLS:C0085160" + "MEDGEN:43115" "PMID:29875488" "ZFA:0001064" "Orphanet:98615" @@ -118316,8 +118317,8 @@ "NCIT:C8401" "MEDGEN:7187" "UMLS:C0022374" - "SCTID:126834003" "MESH:D007580" + "SCTID:126834003" "OMIM:193235" "PMID:37794183" "OMIM:613243" @@ -119059,8 +119060,8 @@ "NCIt:C34990" "MedDRA:10039117" "ICD10:S22" - "BAO:0000648" "NCIt:C147357" + "BAO:0000648" "MeSH:D009072" "Patent:US3954872" "CAS:31828-71-4" @@ -119331,10 +119332,6 @@ "PMID:37794183" "UMLS:C0158266" "SNOMEDCT_US:77547008" - "WebElements:Na" - "CAS:7440-23-5" - "KEGG:C01330" - "Gmelin:16221" "EFO:0009000" "NCIT:C9295" "MEDGEN:83178" @@ -119344,6 +119341,10 @@ "ICD9:238.79" "UMLS:C0334664" "ICD10:D47.0" + "WebElements:Na" + "CAS:7440-23-5" + "KEGG:C01330" + "Gmelin:16221" "MEDGEN:1842533" "UMLS:C5680515" "Orphanet:171898" @@ -119447,7 +119448,6 @@ "Orphanet:1580" "MEDGEN:321954" "NCIT:C130982" - "HMDB:0032822" "UMLS:C4015285" "MEDGEN:863722" "OMIM:616117" @@ -119462,6 +119462,7 @@ "DOID:1803" "MEDGEN:14344" "SCTID:84299009" + "HMDB:0032822" "GARD:11951" "NANDO:2200056" "UMLS:C0035412" @@ -119533,8 +119534,8 @@ "MEDGEN:1648372" "OMIM:618265" "UMLS:C4748872" - "PMID:28240269" "UMLS:C0341059" + "PMID:28240269" "PMID:37794183" "DOID:0050628" "ICD10CM:G47.2" @@ -119705,10 +119706,10 @@ "UMLS:C1848903" "UMLS:C2931509" "MeSH:C537496" - "PMID:37164013" "PMID:31430377" "Orphanet:2679" "GARD:2996" + "PMID:37164013" "DOID:6639" "NCIT:C6206" "UMLS:C1377604" @@ -119756,6 +119757,10 @@ "icd11.foundation:336055701" "UMLS:C0549150" "PMID:29875488" + "OMIM:615767" + "OMIM:613148" + "OMIM:612567" + "ICD10:K52.8" "ICD9:040.1" "MONDO:0005945" "MedDRA:10039102" @@ -119766,10 +119771,6 @@ "DOID:11336" "icd11.foundation:1053615368" "MESH:D012226" - "OMIM:615767" - "OMIM:613148" - "OMIM:612567" - "ICD10:K52.8" "SNOMEDCT:20016009" "NCIt:C3228" "MedDRA:10027182" @@ -119851,7 +119852,6 @@ "OMIM:180700" "MedDRA:10084325" "ICD10:Q87.1" - "ICD10:C69.2" "UMLS:C1253936" "MESH:D006833" "MEDGEN:222181" @@ -119859,6 +119859,7 @@ "ICD9:719.08" "SCTID:387637008" "ICD9:719.00" + "ICD10:C69.2" "PMID:29875488" "PMID:33634981" "MESH:D065817" @@ -119931,6 +119932,12 @@ "MEDGEN:365434" "GARD:17251" "OMIM:118450" + "Orphanet:324703" + "UMLS:C5679882" + "ICD10EXP:I68.0*" + "MEDGEN:1842835" + "ICD10EXP:E85.4+" + "GARD:17489" "MONDO:0006594" "MESH:D010392" "ICD10:L10" @@ -119948,12 +119955,6 @@ "MeSH:D010392" "NCIT:C34909" "SCTID:65172003" - "Orphanet:324703" - "UMLS:C5679882" - "ICD10EXP:I68.0*" - "MEDGEN:1842835" - "ICD10EXP:E85.4+" - "GARD:17489" "NCIt:C25552" "MeSH:D007854" "SNOMEDCT:88488004" @@ -120078,7 +120079,6 @@ "Reaxys:4139597" "MetaCyc:LINOLEIC_ACID" "PMID:23823483" - "PMID:20222342" "PMID:16366593" "PMID:3288054" "PMID:14592471" @@ -120087,6 +120087,7 @@ "PMID:17990280" "PMID:21074432" "PMID:21649483" + "PMID:20222342" "OMIM:500008" "ICD10:H90.3" "OMIM:221745" @@ -120293,11 +120294,11 @@ "NCIT:C36263" "MEDGEN:422475" "UMLS:C2939419" + "PMID:29875488" "MEDGEN:574622" "SCTID:197967000" "icd11.foundation:1032655599" "UMLS:C0341755" - "PMID:29875488" "ZFA:0001066" "MEDGEN:3208" "NCIT:C2961" @@ -120510,6 +120511,18 @@ "CLO:0008111" "ICD10:Q87.8" "OMIM:266910" + "MONDO:0000402" + "ICDO:8041/3" + "SCTID:11010461000119101" + "https://doi.org/10.1186/2162-3619-4-2" + "NCIT:C3915" + "NCIT:C4099" + "EFO:0008524" + "UMLS:C0334239" + "MEDGEN:90748" + "MESH:D018288" + "DOID:0050685" + "ICDO:8042/3" "UMLS:C0460002" "AAO:0000007" "EMAPA:16103" @@ -120538,18 +120551,6 @@ "Wikipedia:Organ_system" "FMA:7149" "EHDAA2:0003011" - "MONDO:0000402" - "ICDO:8041/3" - "SCTID:11010461000119101" - "https://doi.org/10.1186/2162-3619-4-2" - "NCIT:C3915" - "NCIT:C4099" - "EFO:0008524" - "UMLS:C0334239" - "MEDGEN:90748" - "MESH:D018288" - "DOID:0050685" - "ICDO:8042/3" "NORD:1377" "MedDRA:10048676" "icd11.foundation:418359090" @@ -121399,8 +121400,8 @@ "DOID:4455" "SCTID:717736007" "NCIT:C39789" - "MeSH:D018827" "SNOMEDCT:24632000" + "MeSH:D018827" "PMID:35347128" "BTO:0001166" "NCIt:C12739" @@ -121629,6 +121630,7 @@ "Orphanet:93460" "icd11.foundation:2113355045" "PMID:18600261" + "HMDB:0037146" "icd11.foundation:1374802956" "NCIT:C3672" "UMLS:C0006663" @@ -121638,7 +121640,6 @@ "SCTID:6595006" "DOID:182" "MEDGEN:709" - "HMDB:0037146" "PMID:24816252" "UMLS:C0748473" "NCIt:C75568" @@ -121817,11 +121818,11 @@ "MP:0003393" "PMID:22770225" "HMDB:HMDB0000552" - "NCIt:C8559" - "MedDRA:10075444" "OMIM:212112" "UMLS:C0796083" "UMLS:C0796031" + "NCIt:C8559" + "MedDRA:10075444" "PMID:28240269" "SNOMEDCT:372008" "UMLS:C4749579" @@ -121857,13 +121858,13 @@ "Orphanet:183460" "UMLS:C5680577" "GARD:20268" - "ICD10:H47.2" "PMID:29875488" "SCTID:726706008" "MEDGEN:1387521" "UMLS:C4512053" "GARD:19306" "Orphanet:96072" + "ICD10:H47.2" "UMLS:C0431691" "ICD10:Q60.3" "icd11.foundation:578519098" @@ -122101,11 +122102,11 @@ "SCTID:718554005" "PMID:28240269" "PMID:28240269" - "ICD10:Q93.3" "UMLS:C5191419" "DOID:0080503" "MEDGEN:1683744" "OMIMPS:614080" + "ICD10:Q93.3" "ICD10:Q43.1" "NCIT:C34927" "DOID:11257" @@ -122124,7 +122125,6 @@ "MEDGEN:342587" "PMID:31430377" "PMID:37164013" - "PMID:35347128" "DOID:664" "icd11.foundation:410953318" "UMLS:C0263639" @@ -122134,6 +122134,7 @@ "OMIM:617988" "UMLS:C4693848" "MO:575" + "PMID:35347128" "SCTID:698279003" "NCIT:C126330" "UMLS:C1839130" @@ -122808,10 +122809,10 @@ "NCIt:C3797" "DOID:5151" "Orphanet:207098" - "OMIM:155500" "PMID:33634981" "ICD10:Q87.0" "PMID:37794183" + "OMIM:155500" "OMIM:112240" "OMIM:616294" "ICD10:Q78.0" @@ -122836,15 +122837,16 @@ "Wikipedia:Pantothenic_acid" "KEGG:D07413" "Reaxys:1727062" + "PMID:35347128" "MeSH:D009043" "NCIt:C17708" "SNOMEDCT:68130003" - "PMID:35347128" "PMID:29875488" "NCIt:C177374" "SNOMEDCT:432472005" "MeSH:D017017" "ZFA:0001070" + "PMID:29875488" "SCTID:763366000" "OMIM:614924" "DOID:0111493" @@ -122852,7 +122854,6 @@ "UMLS:C4706421" "MEDGEN:1645614" "Orphanet:314051" - "PMID:29875488" "icd11.foundation:1425224652" "MESH:C537989" "Orphanet:99936" @@ -122977,6 +122978,7 @@ "BTO:0004306" "Orphanet:400011" "OMIM:607626" + "PMID:35347128" "icd11.foundation:696316924" "GARD:458" "OMIM:609052" @@ -122985,7 +122987,6 @@ "MESH:C563803" "Orphanet:168555" "UMLS:C1836862" - "PMID:35347128" "PMID:28240269" "UMLS:C1837352" "Orphanet:238505" @@ -123748,6 +123749,17 @@ "Wikipedia:Cervical_polyp" "MEDGEN:507540" "ICD9:219" + "SCTID:400085009" + "GARD:16707" + "NCIT:C27519" + "UMLS:C0265971" + "Orphanet:79151" + "OMIM:101900" + "MEDGEN:75589" + "MONDO:0007048" + "ICD9:757.39" + "DOID:0050606" + "MedDRA:10069445" "MEDGEN:113155" "ICD9:580.4" "UMLS:C0221239" @@ -123760,17 +123772,6 @@ "ICD9:582.4" "NANDO:1200714" "NANDO:1200723" - "SCTID:400085009" - "GARD:16707" - "NCIT:C27519" - "UMLS:C0265971" - "Orphanet:79151" - "OMIM:101900" - "MEDGEN:75589" - "MONDO:0007048" - "ICD9:757.39" - "DOID:0050606" - "MedDRA:10069445" "Wikipedia:RAG2" "CLO:0003692" "RRID:CVCL_R965" @@ -124668,10 +124669,10 @@ "OMIM:618853" "DOID:0080963" "UMLS:C5394289" - "PMID:29875488" "BTO:0000670" "RRID:CVCL_0374" "CLO:0007093" + "PMID:29875488" "NCIt:C51998" "MeSH:D001026" "UMLS:C1835813" @@ -124795,13 +124796,13 @@ "https://cellxgene.cziscience.com/cellguide/CL_0005011" "ZFA:0009376" "PMID:29875488" - "UMLS:C1853247" - "OMIM:610250" - "ICD10:G11.4" "MEDGEN:1759589" "GARD:18529" "OMIM:619031" "UMLS:C5436646" + "UMLS:C1853247" + "OMIM:610250" + "ICD10:G11.4" "PMID:35347128" "Orphanet:93397" "UMLS:C4303991" @@ -124890,16 +124891,9 @@ "NCIt:C12474" "PMID:29875488" "Orphanet:422" - "UMLS:C0265101" - "ICD9:433.10" - "SCTID:266254007" - "MEDGEN:539079" - "DOID:807" "UMLS:C3180937" "OMIM:615656" "ICD10:Q93.5" - "PMID: 26629530" - "RRID:CVCL_IS01" "UMLS:C0040435" "SCTID:234947003" "ICD10:K08" @@ -124910,6 +124904,13 @@ "MEDGEN:11852" "DOID:1091" "NCIT:C35077" + "UMLS:C0265101" + "ICD9:433.10" + "SCTID:266254007" + "MEDGEN:539079" + "DOID:807" + "PMID: 26629530" + "RRID:CVCL_IS01" "Orphanet:400018" "OMIM:186580" "OMIM:609464" @@ -125094,6 +125095,8 @@ "EHDAA2:0000337" "EMAPA:16070" "EHDAA:218" + "NCIt:C35349" + "MedDRA:10054854" "SCTID:269476000" "UMLS:C1334633" "NCIT:C3457" @@ -125104,8 +125107,6 @@ "NCIT:C27910" "ICD9:202.0" "MONDO:0004949" - "NCIt:C35349" - "MedDRA:10054854" "UMLS:C1862170" "DOID:0111247" "OMIM:112410" @@ -125123,6 +125124,7 @@ "Orphanet:1437" "NCIT:C36474" "GTR:AN0102272" + "PMID:37794183" "PMID:32737935" "PMID:29079364" "PMID:23666640" @@ -125178,7 +125180,6 @@ "MESH:C536630" "Orphanet:85285" "SCTID:719010001" - "PMID:37794183" "PMID:37794183" "NANDO:1200080" "OMIM:250100" @@ -125451,9 +125452,9 @@ "MEDGEN:60195" "ICD10:D18.1" "GARD:0006234" - "PMID:28240269" "ncithesaurus:Blastemal_Cell" "ZFA:0009178" + "PMID:28240269" "GARD:19610" "SCTID:416633008" "OMIM:121700" @@ -126722,12 +126723,12 @@ "UMLS:C1334675" "DOID:6208" "MEDGEN:235314" - "MeSH:D019588" - "MedDRA:10063493" - "UMLS:C0231341" "RRID:CVCL_IR93" "PMID: 26629530" "Orphanet:400022" + "MeSH:D019588" + "MedDRA:10063493" + "UMLS:C0231341" "PMID:35347128" "UMLS:C1836860" "DOID:0111097" @@ -127059,7 +127060,6 @@ "SCTID:713277006" "Orphanet:447777" "UMLS:C1328407" - "PMID:29875488" "ICD9:350.1" "icd11.foundation:1803581281" "MedDRA:10044652" @@ -127077,6 +127077,7 @@ "MESH:D014277" "SCTID:31681005" "ICD10CM:G50.0" + "PMID:29875488" "ICD10:Q92.3" "MeSH:D014183" "MeSH:D064593" @@ -127233,14 +127234,14 @@ "ICD9:562.01" "UMLS:C0267502" "DOID:11223" - "PMID:29875488" - "PMID:28240269" "NCIT:C40305" "MEDGEN:384495" "UMLS:C2202743" "DOID:6339" - "PMID:32321835" + "PMID:29875488" + "PMID:28240269" "NCIt:C147359" + "PMID:32321835" "NCIT:C90598" "GARD:2152" "NANDO:2201342" @@ -127286,6 +127287,17 @@ "MESH:D018297" "PMID:37794183" "PMID:30217807" + "SCTID:27052006" + "MEDGEN:6186" + "ICD9:084.1" + "NCIT:C34800" + "MeSH:D016780" + "MESH:D016780" + "DOID:12978" + "ICD10:B51" + "MONDO:0005921" + "ICD10CM:B51" + "UMLS:C0024537" "UMLS:C0279687" "NCIT:C7986" "DOID:6037" @@ -127299,17 +127311,6 @@ "Orphanet:293621" "OMIM:300779" "MESH:C567587" - "SCTID:27052006" - "MEDGEN:6186" - "ICD9:084.1" - "NCIT:C34800" - "MeSH:D016780" - "MESH:D016780" - "DOID:12978" - "ICD10:B51" - "MONDO:0005921" - "ICD10CM:B51" - "UMLS:C0024537" "UMLS:C5679589" "GARD:20172" "Orphanet:180068" @@ -128053,11 +128054,6 @@ "SCTID:253021007" "ICDO:8408/0" "PMID:25552591" - "ICD10:Q93.5" - "OMIM:105830" - "MeSH:D017204" - "UMLS:C0162635" - "MedDRA:10049004" "OMIM:269880" "UMLS:C0878684" "icd11.foundation:1264512044" @@ -128074,6 +128070,11 @@ "UMLS:C0549629" "SNOMEDCT_US:274127000" "NCIt:C123435" + "ICD10:Q93.5" + "OMIM:105830" + "MeSH:D017204" + "UMLS:C0162635" + "MedDRA:10049004" "MeSH:D002598" "MONDO:0005491" "MESH:D002598" @@ -128316,6 +128317,7 @@ "icd11.foundation:592246939" "GARD:20142" "PMID:35347128" + "PMID:24816252" "EHDAA2_RETIRED:0003154" "EFO:0000807" "SCTID:361692004" @@ -128341,7 +128343,6 @@ "XAO:0000176" "MESH:D034582" "MIAA:0000033" - "PMID:24816252" "Wikipedia:Color_blindness" "Orphanet:319691" "SNOMEDCT:51445007" @@ -128442,12 +128443,12 @@ "MONDO:0014726" "GARD:17830" "OMIM:616668" - "ICD10:Q93.5" "GARD:20857" "MEDGEN:1379548" "UMLS:C4518507" "SCTID:726358004" "Orphanet:262687" + "ICD10:Q93.5" "SCTID:363451005" "MEDGEN:509337" "UMLS:C0153599" @@ -128487,6 +128488,11 @@ "PMID:28194004" "MeSH:D048373" "SNOMEDCT:4099006" + "ONCOTREE:SELT" + "MEDGEN:148188" + "NCIT:C4944" + "DOID:3643" + "UMLS:C0748616" "UMLS:C0432322" "OMIM:131750" "SCTID:75875004" @@ -128495,19 +128501,14 @@ "Orphanet:231568" "GARD:2139" "ICD9:757.39" - "ONCOTREE:SELT" - "MEDGEN:148188" - "NCIT:C4944" - "DOID:3643" - "UMLS:C0748616" "UMLS:C1691020" "MEDGEN:739396" "SCTID:417967008" + "PMID:35347128" "UMLS:C1511316" "DOID:6657" "NCIT:C40356" "MEDGEN:307310" - "PMID:35347128" "SNOMEDCT_US:95325000" "UMLS:C0151811" "UMLS:C0746926" @@ -128667,14 +128668,14 @@ "UMLS:C0087012" "SNOMEDCT_US:129609000" "PMID:28679651" - "NCIt:C86441" - "MeSH:D044138" - "SNOMEDCT:433940005" "GARD:21534" "MEDGEN:1668723" "Orphanet:356947" "UMLS:C4755255" "SNOMEDCT:700441006" + "NCIt:C86441" + "MeSH:D044138" + "SNOMEDCT:433940005" "ZFA:0000136" "DOID:0080594" "Orphanet:217390" @@ -128853,10 +128854,10 @@ "DOID:5046" "UMLS:C1334656" "PMID:29875488" + "PMID:29875488" "BTO:0002032" "RRID:CVCL_0555" "CLO:0009254" - "PMID:29875488" "PMID:37794183" "PMID:35995766" "UMLS:C4748978" @@ -129176,17 +129177,17 @@ "BTO:0002914" "RRID:CVCL_0530" "PMID:37057071" - "UMLS:C0275974" - "MEDGEN:546997" - "DOID:0050382" - "SCTID:21857006" - "PMID:37794183" "NCIt:C2959" "ICD10:T81" "ICD10:T79" "ICD10:T87" "ICD10:T80" "ICD10:T88" + "UMLS:C0275974" + "MEDGEN:546997" + "DOID:0050382" + "SCTID:21857006" + "PMID:37794183" "OMIM:145500" "UMLS:C1859896" "PMID:29875488" @@ -129407,9 +129408,9 @@ "Orphanet:3135" "MEDGEN:19885" "GARD:21314" + "MedDRA:10061227" "ICD9:272.8" "DOID:3146" - "MedDRA:10061227" "NCIT:C97092" "ICD9:272.9" "SCTID:267431006" @@ -129744,6 +129745,7 @@ "ZFA:0009349" "BTO:0003104" "Orphanet:99739" + "PMID:29875488" "NANDO:2200690" "SCTID:1563006" "UMLS:C0242666" @@ -129756,7 +129758,6 @@ "NANDO:2100198" "NANDO:1201081" "MEDGEN:69229" - "PMID:29875488" "NCIt:C14192" "SNOMEDCT:34618005" "MeSH:D002417" @@ -129902,11 +129903,11 @@ "MedDRA:10050576" "ICD10:L40.0" "PMID:28240269" + "PMID:26202289" "MEDGEN:233390" "UMLS:C1335682" "NCIT:C5552" "DOID:7160" - "PMID:26202289" "UMLS:C0015944" "SNOMEDCT_US:44223004" "SNOMEDCT_US:237266003" @@ -130039,6 +130040,8 @@ "ICD10:Q77.7" "UMLS:C4023007" "PMID:26458175" + "OMIM:228990" + "ICD10:H35.5" "NCIt:C112199" "icd11.foundation:843084384" "ICD9:529.0" @@ -130062,8 +130065,6 @@ "MetaCyc:3-METHYLBENZYL-ALCOHOL" "PMID:22078029" "UM-BBD_compID:c0241" - "OMIM:228990" - "ICD10:H35.5" "PMID:29875488" "NCIt:C3362" "MedDRA:10039638" @@ -130107,8 +130108,8 @@ "DOID:4007" "UMLS:C0699885" "SCTID:255108000" - "NCIT:C4912" "HP:0002862" + "NCIT:C4912" "MEDGEN:147071" "CALOHA:TS-1042" "BTO:0001372" @@ -130164,12 +130165,6 @@ "icd11.foundation:376045936" "UMLS:C0795839" "MEDGEN:162778" - "MESH:D001956" - "SCTID:362723009" - "FMA:16516" - "NCIT:C12318" - "UMLS:C0006205" - "Wikipedia:Broad_ligament_of_the_uterus" "MEDGEN:1746" "NCIT:C2856" "EFO:1000834" @@ -130178,6 +130173,12 @@ "ICDO:8300/0" "DOID:4542" "MESH:D000237" + "MESH:D001956" + "SCTID:362723009" + "FMA:16516" + "NCIT:C12318" + "UMLS:C0006205" + "Wikipedia:Broad_ligament_of_the_uterus" "UMLS:C1840235" "SNOMEDCT_US:707609006" "PMID:35347128" @@ -130388,9 +130389,9 @@ "MEDGEN:1615364" "ATCC:CRL-5891" "ICD10:Q93.5" - "PMID:24816252" "ICD10:D84.8" "OMIM:615387" + "PMID:24816252" "ZFA:0005010" "MeSH:D003004" "SNOMEDCT:36559008" @@ -130649,8 +130650,8 @@ "SNOMEDCT:50043002" "ICD9:V12.60" "SCTID:50043002" - "ICD9:508.1" "ICD10CM:J00-J99" + "ICD9:508.1" "MEDGEN:48421" "ICD9:516.9" "ICD10:J39" @@ -130690,16 +130691,16 @@ "SNOMEDCT_US:36649002" "SNOMEDCT_US:389026000" "UMLS:C0003962" + "NCIT:C4668" + "UMLS:C0349663" + "SCTID:278042005" + "MEDGEN:91164" "UMLS:C3890205" "NCIt:C119033" "MONDO:0019432" "GARD:3931" "Orphanet:85408" "MEDGEN:855549" - "NCIT:C4668" - "UMLS:C0349663" - "SCTID:278042005" - "MEDGEN:91164" "UMLS:C0085660" "UMLS:C0520474" "SNOMEDCT_US:398199007" @@ -130710,8 +130711,8 @@ "EFO:1000404" "UMLS:C0278869" "NCIT:C7913" - "MONDO:0006326" "MEDGEN:75884" + "MONDO:0006326" "PMID:35347128" "PMID:25514360" "MEDGEN:151769" @@ -130858,13 +130859,13 @@ "KEGG COMPOUND:C11761" "OMIM:277000" "ICD10:Q51.8" - "MedDRA:10074473" - "MeSH:D019121" - "DOID:50377" "SCTID:231824001" "MEDGEN:137911" "NCIT:C4354" "UMLS:C0339107" + "MedDRA:10074473" + "MeSH:D019121" + "DOID:50377" "ZFA:0000726" "PMID:35347128" "MEDGEN:1681582" @@ -131309,8 +131310,8 @@ "icd11.foundation:113532659" "Orphanet:180074" "GARD:20174" - "PMID:35347128" "PMID:29875488" + "PMID:35347128" "DOID:0080839" "OMIM:301052" "PMID:24816252" @@ -131344,9 +131345,9 @@ "SNOMEDCT:36012007" "SNOMEDCT:257970008" "WebElements:N" - "OMIMPS:301108" "OMIM:611863" "ICD10:Q15.8" + "OMIMPS:301108" "NCIt:C12803" "MeSH:D014129" "MO:858" @@ -131416,6 +131417,17 @@ "UMLS:C0345326" "SNOMEDCT:449826002" "ICD10:N47" + "SCTID:700211007" + "ICD9:759.89" + "GARD:118" + "icd11.foundation:1508836700" + "MESH:C536937" + "DOID:0060614" + "OMIM:181450" + "UMLS:C1866994" + "MEDGEN:357886" + "Orphanet:3138" + "NORD:1695" "ICD10:D48.7" "OMIM:606690" "ONCOTREE:LAM" @@ -131433,17 +131445,6 @@ "SCTID:277844007" "GARD:0003319" "ICD9:518.89" - "SCTID:700211007" - "ICD9:759.89" - "GARD:118" - "icd11.foundation:1508836700" - "MESH:C536937" - "DOID:0060614" - "OMIM:181450" - "UMLS:C1866994" - "MEDGEN:357886" - "Orphanet:3138" - "NORD:1695" "GARD:9989" "MEDGEN:332940" "OMIM:608612" @@ -131512,6 +131513,7 @@ "MESH:C538160" "Orphanet:2001" "MEDGEN:444135" + "PMID:36210801" "OMIM:261000" "GARD:3024" "MedDRA:10070440" @@ -131523,7 +131525,6 @@ "DOID:0050734" "UMLS:C1394891" "SCTID:34925000" - "PMID:36210801" "SNOMEDCT:5595000" "MeSH:D012485" "PMID:37794183" @@ -131741,8 +131742,8 @@ "EMAPA:17672" "BTO:0004480" "MA:0001865" - "NCIT:C49263" "EHDAA2:0001241" + "NCIT:C49263" "UMLS:C1179157" "FMA:62452" "EHDAA:7090" @@ -132241,9 +132242,9 @@ "OMIM:619470" "UMLS:C5561954" "MEDGEN:1794164" + "PMID:29875488" "SNOMEDCT_US:230690007" "UMLS:C0038454" - "PMID:29875488" "ICD9:309.89" "SCTID:17226007" "ICD9:309.9" @@ -132329,9 +132330,6 @@ "MEDGEN:463102" "PMID:37794183" "PMID:28240269" - "UMLS:C2931197" - "OMIM:600991" - "ICD10:Q87.8" "PMID:29875488" "MeSH:D001886" "NCIt:C76205" @@ -132351,6 +132349,9 @@ "OMIM:231000" "SCTID:5963005" "GARD:2443" + "UMLS:C2931197" + "OMIM:600991" + "ICD10:Q87.8" "PMID:28240269" "MedDRA:10052306" "UMLS:C5680106" @@ -132372,11 +132373,6 @@ "MedDRA:10053242" "SNOMEDCT:235908005" "MeSH:D006015" - "MESH:C566194" - "DOID:0110972" - "OMIM:113300" - "MEDGEN:396291" - "UMLS:C1862102" "OMIM:300578" "SCTID:719808002" "UMLS:C1845136" @@ -132384,6 +132380,11 @@ "Orphanet:85332" "ICD10CM:H35.5" "MEDGEN:336862" + "MESH:C566194" + "DOID:0110972" + "OMIM:113300" + "MEDGEN:396291" + "UMLS:C1862102" "ICD10:Q93.5" "PMID:29875488" "SCTID:254848002" @@ -132438,8 +132439,8 @@ "MESH:D044682" "FMA:14545" "galen:AscendingColon" - "EMAPA:35151" "CALOHA:TS-0057" + "EMAPA:35151" "MA:0001541" "EFO:0000843" "MAT:0000311" @@ -132806,14 +132807,14 @@ "MEDGEN:324846" "OMIM:608641" "UMLS:C1837640" - "UMLS:C0796254" - "OMIM:304340" - "ICD10:Q23.8" "ICD9:353.1" "MEDGEN:509637" "DOID:13913" "UMLS:C0154735" "SCTID:4062006" + "UMLS:C0796254" + "OMIM:304340" + "ICD10:Q23.8" "icd11.foundation:1946559257" "SCTID:36118008" "DOID:1673" @@ -133258,6 +133259,17 @@ "MESH:D007636" "NCIT:C3146" "ICDO:8071/1" + "PMID:33357513" + "GARD:21522" + "UMLS:C4707306" + "Orphanet:352587" + "MEDGEN:1640999" + "ICD9:447.8" + "Orphanet:315" + "GARD:1722" + "MEDGEN:1845700" + "UMLS:C5848050" + "SCTID:239062001" "MedDRA:10029117" "MESH:D009393" "ICD9:583.7" @@ -133272,18 +133284,6 @@ "ICD10:N05" "ICD9:583.89" "ICD10:N12" - "PMID:33357513" - "GARD:21522" - "UMLS:C4707306" - "Orphanet:352587" - "MEDGEN:1640999" - "ICD9:447.8" - "Orphanet:315" - "GARD:1722" - "MEDGEN:1845700" - "UMLS:C5848050" - "SCTID:239062001" - "Orphanet:425" "GARD:17101" "UMLS:C1970211" "MEDGEN:369682" @@ -133291,6 +133291,7 @@ "OMIM:611067" "MESH:C567023" "DOID:0111213" + "Orphanet:425" "PMID:24816252" "MEDGEN:354673" "UMLS:C1862151" @@ -133349,6 +133350,8 @@ "SCTID:92264007" "UMLS:C0347284" "ICD10CM:D13.6" + "ICD10:E76.2" + "OMIM:601492" "MEDGEN:313270" "GARD:11984" "UMLS:C1708353" @@ -133371,18 +133374,16 @@ "COHD:437238" "UMLS:C0334298" "SCTID:253002004" + "CLO:0001296" + " CLO:0001296" + "RRID:CVCL_0118" + "BTO:0002882" "ZFA:0001263" - "ICD10:E76.2" - "OMIM:601492" "DOID:8211" "MEDGEN:273292" "UMLS:C1517111" "NCIT:C40114" "PMID:24816252" - "CLO:0001296" - " CLO:0001296" - "RRID:CVCL_0118" - "BTO:0002882" "OMIM:615162" "UMLS:C3554609" "MEDGEN:767523" @@ -133472,7 +133473,6 @@ "MEDGEN:1843151" "GARD:21841" "PMID:37794183" - "PMID:36210801" "MONDO:0005175" "DOID:1856" "MeSH:D002636" @@ -133487,6 +133487,7 @@ "NCIT:C3092" "DOID:2860" "SCTID:427306008" + "PMID:36210801" "http://orcid.org/0000-0002-8674-0039" "Wikipedia:Preprint" "MedDRA:10022437" @@ -133871,18 +133872,18 @@ "MA:0001624" "EMAPA:17891" "MeSH:D005120" - "MESH:C537605" - "NCIT:C4543" - "SCTID:254994000" - "UMLS:C0346347" - "DOID:3259" - "MEDGEN:83419" "Orphanet:263553" "MEDGEN:336530" "DOID:0070520" "GARD:17259" "UMLS:C1849193" "OMIM:270300" + "MESH:C537605" + "NCIT:C4543" + "SCTID:254994000" + "UMLS:C0346347" + "DOID:3259" + "MEDGEN:83419" "PMID:28135258" "PMID:28240269" "icd11.foundation:375969525" @@ -133912,8 +133913,8 @@ "ICD9:079.82" "NCIT:C85064" "DOID:2945" - "PMID:37794183" "PMID:29875488" + "PMID:37794183" "ZFA:0000264" "Orphanet:319171" "UMLS:C4749349" @@ -135103,7 +135104,6 @@ "NCIt:C62578" "MEDGEN:137987" "MONDO:0001956" - "PMID:35347128" "UMLS:C4025043" "MedDRA:10005166" "NCIT:C34431" @@ -135116,6 +135116,7 @@ "MEDGEN:600" "MeSH:D001765" "UMLS:C0005750" + "PMID:35347128" "NCIT:C12910" "Wikipedia:Mucosa-associated_lymphoid_tissue" "FMA:62819" @@ -135331,8 +135332,8 @@ "GAID:571" "BIRNLEX:796" "MBA:8" - "BAMS:Br" "EHDAA:2641" + "BAMS:Br" "EHDAA:6485" "XAO:0000010" "galen:Brain" @@ -135540,8 +135541,8 @@ "NCIt:C26800" "SCTID:40930008" "MeSH:D007037" - "PMID:37794183" "PMID:29875488" + "PMID:37794183" "NCIt:C147364" "PMID:29066854" "DOID:9245" @@ -135574,9 +135575,9 @@ "DOID:0110440" "MESH:C565337" "Orphanet:217622" - "PMID:35347128" "UMLS:C0231835" "SNOMEDCT_US:271823003" + "PMID:35347128" "MeSH:D005642" "NCIt:C84721" "SNOMEDCT:193839007" @@ -135644,6 +135645,7 @@ "PMID:37794183" "PMID:37794183" "PMID:31659325" + "PMID:31600487" "MEDGEN:137784" "UMLS:C0334579" "NANDO:2200086" @@ -135662,7 +135664,6 @@ "MedDRA:10002224" "SNOMEDCT_US:161891005" "UMLS:C0004604" - "PMID:31600487" "UMLS:C1846170" "Orphanet:85274" "OMIM:300218" @@ -135962,11 +135963,11 @@ "MEDGEN:3588" "OMIM:153630" "UMLS:C0009677" + "ICD10:Q93.5" "PMID:36210801" "MEDGEN:220902" "OMIMPS:209880" "UMLS:C1275808" - "ICD10:Q93.5" "ICD10:Q87.2" "DOID:3327" "ICD9:780.39" @@ -136283,8 +136284,8 @@ "UMLS:C1865866" "SNOMEDCT_US:700453005" "SNOMEDCT:116115004" - "MeSH:C056516" "PMID:10882163" + "MeSH:C056516" "DrugBank:DB00990" "CAS:107868-30-4" "SNOMEDCT:387017005" @@ -136512,6 +136513,7 @@ "NCIt:C17049" "ICD10:N04" "PMID:37794183" + "ATC_code:A" "MedDRA:10020967" "NCIT:C118697" "OMIM:146000" @@ -136527,7 +136529,6 @@ "Orphanet:429" "UMLS:C0410529" "MESH:C562937" - "ATC_code:A" "MESH:D012876" "MEDGEN:20780" "UMLS:C0037280" @@ -136631,11 +136632,11 @@ "GARD:5629" "SCTID:36454001" "DOID:0110849" - "MedDRA:10081894" - "ICD10:Q93.2" "PMID:29875488" "UMLS:CN227645" "Orphanet:89832" + "MedDRA:10081894" + "ICD10:Q93.2" "SCTID:416909000" "MedDRA:10049215" "https://web.expasy.org/cellosaurus/CVCL_9S58" @@ -137293,8 +137294,8 @@ "TGEMO:00029" "MGI:2160550" "PMID:37794183" - "PMID:31530798" "PMID:29875488" + "PMID:31530798" "GARD:5125" "MESH:C536950" "MEDGEN:376472" @@ -137355,8 +137356,8 @@ "icd11.foundation:640770928" "MEDGEN:102302" "ICD10CM:D29.4" - "ICD9:222.4" "UMLS:C0154011" + "ICD9:222.4" "NCIT:C3615" "SCTID:92336000" "DOID:1786" @@ -137871,20 +137872,20 @@ "OMIM:223540" "ICD10:Q87.1" "PMID:29875488" + "NCIt:C79748" + "MedDRA:10003694" "OMIM:614868" "Orphanet:314689" "GARD:17430" "MEDGEN:766857" "UMLS:C3553943" - "NCIt:C79748" - "MedDRA:10003694" "MESH:D002493" "DOID:331" "UMLS:C4021765" "NCIt:C2934" "MONDO:0002602" - "ICD10:G09" "MEDGEN:892343" + "ICD10:G09" "NCIT:C2934" "SCTID:23853001" "HMDB:HMDB0000034" @@ -138098,6 +138099,7 @@ "MedDRA:10063429" "ICD10:Q87.8" "MeSH:C535332" + "ICD10:D82.8" "MeSH:D012553" "SCTID:236706006" "DOID:1394" @@ -138107,7 +138109,6 @@ "MEDGEN:312392" "UMLS:C1704430" "MONDO:0006001" - "ICD10:D82.8" "UMLS:C4310704" "MEDGEN:934671" "GARD:16196" @@ -138226,12 +138227,12 @@ "MESH:C567450" "MEDGEN:393833" "OMIM:611953" + "PMID:35347128" "MEDGEN:1814561" "UMLS:C5700245" "Orphanet:488618" "OMIM:617044" "GARD:17894" - "PMID:35347128" "OMIM:620439" "Orphanet:652487" "MEDGEN:1841248" @@ -138518,15 +138519,15 @@ "EMAPA:36429" "SCTID:362244005" "MESH:D001472" - "UMLS:C5436466" - "OMIM:618952" - "MEDGEN:1752252" - "DOID:0112115" "Orphanet:139573" "GARD:19920" "SCTID:717826009" "MEDGEN:929235" "UMLS:C4303566" + "UMLS:C5436466" + "OMIM:618952" + "MEDGEN:1752252" + "DOID:0112115" "MESH:D003319" "ZFA:0001685" "GAID:893" @@ -138554,8 +138555,6 @@ "MEDGEN:1794224" "OMIM:619599" "PMID:35347128" - "Orphanet:457485" - "OMIM:616638" "DOID:0112294" "OMIM:602611" "MESH:C566515" @@ -138565,6 +138564,8 @@ "UMLS:C1865134" "Orphanet:163649" "PMID:37794183" + "Orphanet:457485" + "OMIM:616638" "MEDGEN:137794" "DOID:2697" "NCIT:C8383" @@ -138585,7 +138586,6 @@ "UMLS:C0152459" "SNOMEDCT_US:201066002" "MEDDRA:10040925" - "ICD10:N04.0" "HMDB:HMDB0000197" "DrugBank:DB07950" "Beilstein:143358" @@ -138607,6 +138607,7 @@ "SNOMEDCT:71532005" "NIST Chemistry WebBook:87-51-4" "ChEMBL:234915" + "ICD10:N04.0" "NCIT:C3200" "UMLS:C0024121" "MEDGEN:7400" @@ -138747,13 +138748,13 @@ "Orphanet:95716" "NCIT:C121751" "SCTID:718183003" - "JAX:008216" "UMLS:C1844017" "MEDGEN:375339" "OMIM:306980" "GARD:2700" "MESH:C538319" "Orphanet:2150" + "JAX:008216" "PMID:35347128" "SNOMEDCT:88274000" "MeSH:D014349" @@ -138809,10 +138810,6 @@ "ICD9:528.8" "ICD10:K13.5" "EFO:1001818" - "UMLS:C0878684" - "OMIM:269880" - "MeSH:C537327" - "ICD10:Q87.1" "UMLS:C1856095" "Orphanet:2167" "GARD:2728" @@ -138820,6 +138817,10 @@ "MESH:C535327" "OMIM:236110" "DOID:0060566" + "UMLS:C0878684" + "OMIM:269880" + "MeSH:C537327" + "ICD10:Q87.1" "DOID:0110196" "Orphanet:99953" "MEDGEN:343122" @@ -138872,12 +138873,6 @@ "ICD10CM:C68.0" "DOID:734" "OMIM:614303" - "PMID:23364568" - "MEDGEN:C0002768" - "PMID:92193" - "PMID:27637569" - "PMID:7543219" - "PMID:16566889" "DOID:8481" "NCIT:C35202" "MEDGEN:56370" @@ -138886,6 +138881,12 @@ "icd11.foundation:1177212968" "SCTID:195136004" "ICD9:398.0" + "PMID:23364568" + "MEDGEN:C0002768" + "PMID:92193" + "PMID:27637569" + "PMID:7543219" + "PMID:16566889" "OMIM:300100" "MESH:D000326" "icd11.foundation:1085655586" @@ -138975,11 +138976,11 @@ "NCIT:C5504" "SCTID:277523004" "UMLS:C1332887" - "SNOMEDCT:434197001" "MAT:0000227" "BTO:0000390" "MeSH:D056625" "PO:0009089" + "SNOMEDCT:434197001" "NCIT:C3290" "MEDGEN:18190" "UMLS:C0029185" @@ -139792,6 +139793,7 @@ "MeSH:D010002" "PMID:23615609" "PMID:35347128" + "HMDB:0039972" "MeSH:D023903" "DOID:4247" "UMLS:C0948480" @@ -139800,7 +139802,6 @@ "MONDO:0005355" "MESH:D023903" "ZFA:0001289" - "HMDB:0039972" "MESH:D014670" "FMA:15076" "CALOHA:TS-2348" @@ -140074,8 +140075,8 @@ "OMIM:608804" "DOID:0060787" "MEDGEN:325157" - "PMID:37794183" "PMID:36006120" + "PMID:37794183" "ICD10:S12" "ICD10:T08" "MESH:D016103" @@ -140144,12 +140145,12 @@ "MeSH:C538135" "ICD10:Q87.8" "OMIM:301815" + "MONDO:0005621" + "MESH:D020214" "Orphanet:231242" "MEDGEN:526128" "UMLS:C0221020" "GARD:20608" - "MONDO:0005621" - "MESH:D020214" "OMIMPS:277400" "GARD:3579" "Orphanet:26" @@ -141161,7 +141162,6 @@ "SCTID:90584004" "ZFA:0000811" "PMID:35050183" - "PMID:33634981" "PMID:28240269" "icd11.foundation:1509230254" "Orphanet:2209" @@ -141169,6 +141169,7 @@ "GARD:3413" "UMLS:C0085547" "MESH:D017042" + "PMID:33634981" "PMID:37794183" "DOID:0070541" "MESH:C538324" @@ -141407,10 +141408,10 @@ "DOID:6276" "MEDGEN:233657" "EFO:1000067" - "SNOMEDCT:250346004" - "NCIt:C64606" "UMLS:C0023221" "SNOMEDCT_US:45939007" + "SNOMEDCT:250346004" + "NCIt:C64606" "PMID:35347128" "NCIT:C8196" "ICD10:M31.2" @@ -142040,9 +142041,9 @@ "EMAPA:32762" "EFO:0001930" "AAO:0010619" + "PMID:29875488" "MeSH:D011695" "DOID:11123" - "PMID:29875488" "GARD:21525" "UMLS:C4706412" "Orphanet:352641" @@ -142152,9 +142153,9 @@ "UMLS:C2676271" "OMIM:612422" "MEDGEN:382807" + "PMID:28928442" "RRID:CVCL_0299" "BTO:0005964" - "PMID:28928442" "PMID:29875488" "ZFA:0005168" "NCIT:C32281" @@ -142410,6 +142411,7 @@ "PMID:29875488" "PMID:28240269" "PMID:33634981" + "ICD10:G11.4" "PMID:28240269" "UMLS:C1857682" "Orphanet:254925" @@ -142424,7 +142426,6 @@ "MEDGEN:1801322" "GARD:13168" "Orphanet:454887" - "ICD10:G11.4" "Orphanet:206707" "GARD:21857" "MONDO:0018628" @@ -142809,6 +142810,7 @@ "DOID:3378" "UMLS:C5848244" "ICDO:9186/3" + "PMID:33634981" "MeSH:D005832" "MESH:D005832" "ICD10:N49" @@ -142834,7 +142836,6 @@ "MEDGEN:350734" "OMIM:107500" "MESH:C537785" - "PMID:33634981" "KEGG:C00715" "CAS:2236-60-4" "MedDRA:10001843" @@ -142980,8 +142981,8 @@ "MESH:D055113" "SNOMEDCT:5689008" "NCIT:C35326" - "PMID:29398083" "PMID:37794183" + "PMID:29398083" "SNOMEDCT_US:6077001" "UMLS:C1866141" "UMLS:C0085684" @@ -143456,11 +143457,6 @@ "UMLS:C0403555" "OMIM:236730" "MeSH:C536480" - "UMLS:C0238019" - "MEDGEN:116036" - "SCTID:372101000" - "NCIT:C3860" - "DOID:4682" "DOID:627" "MedDRA:10069566" "MEDGEN:88328" @@ -143473,6 +143469,11 @@ "HP:0004430" "SCTID:31323000" "Orphanet:183660" + "UMLS:C0238019" + "MEDGEN:116036" + "SCTID:372101000" + "NCIT:C3860" + "DOID:4682" "EFO:0000980" "MESH:D004717" "UMLS:C0014180" @@ -143757,12 +143758,12 @@ "MEDGEN:444105" "Orphanet:261920" "UMLS:C4280767" - "PMID:29875488" - "PMID:35347128" "UMLS:C2931837" "OMIM:600627" "MeSH:C538393" "ICD10:E70.8" + "PMID:29875488" + "PMID:35347128" "GARD:17034" "MESH:C567773" "UMLS:C5436061" @@ -144076,7 +144077,6 @@ "UMLS:C5394546" "OMIM:615458" "ICD10:Q15.8" - "PMID:29875488" "MeSH:D006502" "SNOMEDCT:82385007" "ICD9:453.0" @@ -144092,6 +144092,7 @@ "icd11.foundation:2131410813" "DOID:11512" "ICD10CM:I82.0" + "PMID:29875488" "PMID:38565889" "MESH:C536080" "Orphanet:391417" @@ -144440,14 +144441,18 @@ "NANDO:2200501" "Orphanet:25" "DOID:0111254" - "PMID:29875488" "UMLS:C1839783" "UMLS:C4280583" "UMLS:C4280584" + "PMID:29875488" "KEGG COMPOUND:C00666" "HMDB:0001370" "OMIM:612292" "ICD10:Q87.8" + "Orphanet:284411" + "GARD:17316" + "UMLS:C5681029" + "MEDGEN:1842281" "NCIT:C4250" "MEDGEN:266102" "NCIT:C6505" @@ -144456,10 +144461,6 @@ "ICDO:8850/1" "EFO:1000099" "MONDO:0006097" - "Orphanet:284411" - "GARD:17316" - "UMLS:C5681029" - "MEDGEN:1842281" "UMLS:C0020514" "SNOMEDCT_US:237662005" "SO:0000624" @@ -144837,12 +144838,6 @@ "DOID:4551" "MedDRA:10061629" "NCIT:C2877" - "UMLS:C1867437" - "GARD:4577" - "MEDGEN:356778" - "Orphanet:2999" - "MESH:C566736" - "OMIM:178330" "MONDO:0006217" "DOID:5627" "ONCOTREE:GBASC" @@ -144850,6 +144845,12 @@ "UMLS:C1333741" "EFO:1000264" "NCIT:C7356" + "UMLS:C1867437" + "GARD:4577" + "MEDGEN:356778" + "Orphanet:2999" + "MESH:C566736" + "OMIM:178330" "DOID:5308" "NCIT:C27414" "UMLS:C1332246" @@ -144897,10 +144898,10 @@ "PMID:28240269" "SNOMEDCT:31414002" "ICD10:Q87.8" - "PMID:31530798" "PMID:37794183" "SNOMEDCT:75445002" "MeSH:D016797" + "PMID:31530798" "icd11.foundation:1577029287" "MEDGEN:1723370" "Orphanet:295223" @@ -145077,8 +145078,8 @@ "KEGG:D00454" "Wikipedia:Olanzapine" "Drug_Central:1982" - "MeSH:C076029" "PMID:18792627" + "MeSH:C076029" "SNOMEDCT:108441004" "UMLS:C0403399" "MedDRA:10060740" @@ -145091,8 +145092,8 @@ "NCIT:C122795" "DOID:0080390" "PMID:29875488" - "PMID:29875488" "OMIMPS:604370" + "PMID:29875488" "PMID:24816252" "Orphanet:3095" "UMLS:C2748910" @@ -145347,15 +145348,6 @@ "UMLS:C4707181" "SCTID:764858009" "Orphanet:229717" - "GARD:19373" - "UMLS:C0431691" - "Orphanet:97361" - "MEDGEN:609098" - "ICD10CM:Q60.3" - "KEGG:C14828" - "LIPID_MAPS_instance:LMFA02000229" - "Reaxys:6807939" - "HMDB:HMDB0004704" "MESH:D015866" "SNOMEDCT:43363007" "NCIt:C35111" @@ -145368,6 +145360,15 @@ "MONDO:0006918" "DOID:12574" "MedDRA:10036370" + "GARD:19373" + "UMLS:C0431691" + "Orphanet:97361" + "MEDGEN:609098" + "ICD10CM:Q60.3" + "KEGG:C14828" + "LIPID_MAPS_instance:LMFA02000229" + "Reaxys:6807939" + "HMDB:HMDB0004704" "OMIM:182212" "NCIT:C124840" "SCTID:719069008" @@ -146045,9 +146046,9 @@ "GARD:19184" "Orphanet:93400" "MEDGEN:1843300" - "PMID:28240269" "OMIM:611228" "ICD10:G60.0" + "PMID:28240269" "GARD:1503" "UMLS:C0345375" "SCTID:93255008" @@ -146274,8 +146275,8 @@ "icd11.foundation:2040265542" "DOID:3893" "EFO:1000967" - "NCIT:C3760" "MESH:D018251" + "NCIT:C3760" "MEDGEN:61656" "MedDRA:10059019" "SCTID:254725004" @@ -146353,10 +146354,10 @@ "UMLS:C1333456" "ICD10:Q82" "PMID:35347128" + "PMID:29875488" "RRID:CVCL_1697" "BTO:0004216" "CLO:0009031" - "PMID:29875488" "DOID:4921" "UMLS:C1334577" "MONDO:0005506" @@ -147204,13 +147205,13 @@ "SNOMEDCT:258673006" "NCIt:C28251" "MO:648" + "SCTID:176770005" + "ZFA:0009260" + "FMA:68653" "UMLS:C1846056" "OMIM:300262" "MeSH:C535556" "ICD10:Q87.8" - "SCTID:176770005" - "ZFA:0009260" - "FMA:68653" "SAEL:36" "MA:0000397" "FMA:18255" @@ -147274,8 +147275,8 @@ "ICD10:Q45.8" "UMLS:C1332852" "MEDGEN:232027" - "MONDO:0006123" "HP:0009729" + "MONDO:0006123" "NCIT:C6739" "EFO:1000150" "MESH:C564257" @@ -147360,8 +147361,8 @@ "NANDO:1200860" "GARD:12603" "DOID:0080300" - "PMID:37794183" "PMID:26785701" + "PMID:37794183" "DOID:2834" "ICD9:289.0" "NCIT:C27178" @@ -147811,7 +147812,6 @@ "LINCS:LSM-1755" "CAS:149649-22-9" "ChEMBL:134432" - "PMID:28240269" "GARD:1567" "NCIT:C131429" "MEDGEN:96080" @@ -147824,6 +147824,7 @@ "NANDO:2201368" "Orphanet:1513" "OMIM:218300" + "PMID:28240269" "PMID:37794183" "PMID:29403010" "SCTID:724090001" @@ -147976,6 +147977,7 @@ "PMID:28240269" "PMID:37794183" "PMID:33204752" + "PMID:23823483" "PMID:25092597" "Reaxys:3629989" "KNApSAcK:C00000185" @@ -147988,7 +147990,6 @@ "PMID:25700090" "HMDB:HMDB0034423" "PMID:23823483" - "PMID:23823483" "NCIt:C12314" "BTO:0000907" "MedDRA:10066435" @@ -148026,11 +148027,6 @@ "GARD:8529" "MESH:C537720" "HP:0100746" - "NCIt:C50564" - "ICD10:P20" - "MeSH:D005311" - "SNOMEDCT:276638004" - "Wikipedia:Intrauterine_hypoxia" "UMLS:C0399526" "OMIM:176700" "Orphanet:2964" @@ -148042,6 +148038,11 @@ "MEDGEN:462643" "UMLS:C3151293" "OMIM:613881" + "NCIt:C50564" + "ICD10:P20" + "MeSH:D005311" + "SNOMEDCT:276638004" + "Wikipedia:Intrauterine_hypoxia" "SCTID:29212009" "MEDGEN:68632" "UMLS:C0236664" @@ -148275,11 +148276,11 @@ "OMIM:247200" "SCTID:253148005" "OMIM:617749" + "KEGG:C16534" "UMLS:C1335936" "DOID:663" "MEDGEN:235583" "NCIT:C6387" - "KEGG:C16534" "PMID:28928442" "PMID:37794183" "ICD10CM:G61.0" @@ -148364,17 +148365,17 @@ "ONCOTREE:SDCA" "MEDGEN:220969" "PMID:36168886" - "ICD10:D81.2" - "PMID:24248345" - "PMID:30586455" "GARD:17313" "DOID:0080060" "MEDGEN:482082" "UMLS:C3280452" "OMIM:614322" "Orphanet:284282" + "ICD10:D81.2" "SNOMEDCT:25510005" "MeSH:D006350" + "PMID:24248345" + "PMID:30586455" "DOID:0110185" "OMIM:214400" "UMLS:C1859198" @@ -148867,12 +148868,12 @@ "MEDGEN:483335" "Orphanet:300525" "UMLS:C3469605" + "ZFA:0000948" + "PMID:19962984" "UMLS:C0342712" "ICD10:E71.2" "ICD10:E71.1" "ICD10:E71.0" - "ZFA:0000948" - "PMID:19962984" "PMID:35347128" "PMID:35668104" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03521&Product=CC" @@ -148927,10 +148928,10 @@ "Reaxys:6391251" "GARD:18744" "Orphanet:1724" - "SNOMEDCT_US:419076005" - "UMLS:C1527304" "RRID:CVCL_3770" "CLO:0051452" + "SNOMEDCT_US:419076005" + "UMLS:C1527304" "UMLS:C0002063" "SNOMEDCT_US:21420006" "ChemIDplus:54-12-6" @@ -148962,12 +148963,12 @@ "ICD10:Q93.5" "OMIM:613443" "PMID:29875488" - "PMID:35347128" "DOID:0110312" "OMIM:600858" "MEDGEN:331466" "MESH:C563436" "UMLS:C1833236" + "PMID:35347128" "RRID:CVCL_3744" "BTO:0002544" "UMLS:C0154856" @@ -149620,9 +149621,6 @@ "SNOMEDCT:113675004" "OMIM:101000" "MeSH:DO16518" - "BTO:0004404" - "CLO:0001985" - "RRID:CVCL_3454" "NCIt:C50807" "UMLS:C0423361" "MeSH:D020255" @@ -149634,6 +149632,9 @@ "MONDO:0007017" "MESH:D020255" "SCTID:53772007" + "BTO:0004404" + "CLO:0001985" + "RRID:CVCL_3454" "OMIM:149700" "MEDGEN:332018" "UMLS:C1835612" @@ -149961,8 +149962,6 @@ "SCTID:718632004" "PMID:31172493" "PMID:33717105" - "MeSH:C536664" - "UMLS:C1832200" "MA:0000925" "FMA:61884" "PMID:18348718" @@ -149974,6 +149973,8 @@ "DOID:0070162" "NORD:1237" "MEDGEN:5645" + "MeSH:C536664" + "UMLS:C1832200" "EFO:0002613" "NCIT:C35873" "MEDGEN:235203" @@ -150045,13 +150046,16 @@ "NCIT:C6752" "UMLS:C1335420" "PMID:28240269" - "PMID:30201983" "MEDGEN:463628" "NCIT:C125709" "DOID:0111084" "UMLS:C3160739" "GARD:15324" "OMIM:600901" + "PMID:30201983" + "DOID:0080005" + "HMDB:HMDB0000439" + "PMID:4630229" "MESH:C565404" "OMIM:249710" "SCTID:715471007" @@ -150059,9 +150063,6 @@ "UMLS:C1855273" "GARD:3552" "MEDGEN:340833" - "DOID:0080005" - "HMDB:HMDB0000439" - "PMID:4630229" "NCIt:C4722" "MEDGEN:98291" "OMIM:162500" @@ -150338,10 +150339,10 @@ "Orphanet:269510" "MEDGEN:1616373" "PMID:28240269" + "PMID:33204752" "MESH:D001202" "GAID:1175" "BTO:0000091" - "PMID:33204752" "PMID:37794183" "PMID:38565889" "NORD:1960" @@ -150429,10 +150430,6 @@ "Orphanet:79150" "SCTID:403803002" "FMA:54807" - "NCIT:C5237" - "UMLS:C1335172" - "MEDGEN:277459" - "DOID:3002" "Orphanet:52427" "SCTID:715562001" "UMLS:C1405854" @@ -150440,6 +150437,10 @@ "icd11.foundation:567796529" "ICD10CM:H35.5" "GARD:16655" + "NCIT:C5237" + "UMLS:C1335172" + "MEDGEN:277459" + "DOID:3002" "PMID:28369058" "PMID:36168886" "GARD:18167" @@ -150467,9 +150468,9 @@ "ICD9:588.89" "DOID:14219" "PMID:24816252" - "PMID:29875488" "MedDRA:10037701" "NCIt:C83501" + "PMID:29875488" "Orphanet:98655" "PMID:38565889" "SCTID:274096000" @@ -150542,9 +150543,9 @@ "OMIM:615418" "NCIT:C129977" "DOID:0080335" - "PMID:29875488" "PMID:29875488" "MeSH:D007249" + "PMID:29875488" "MEDGEN:234294" "UMLS:C1333756" "DOID:4057" @@ -150848,10 +150849,10 @@ "ZFA:0000949" "PMID:35347128" "PMID:35668104" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03558&Product=CC" "SNOMEDCT:24028007" "NCIt:C25228" "MAT:0000492" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03558&Product=CC" "MESH:D009140" "ICD10:M53" "ICD9:729.99" @@ -150884,15 +150885,6 @@ "MESH:C564403" "DOID:0050730" "Orphanet:172976" - "SCTID:363352004" - "ICD9:154.2" - "UMLS:C0153445" - "DOID:0050688" - "MEDGEN:509296" - "UMLS:C4692584" - "OMIM:248400" - "MEDGEN:1632207" - "MESH:C565420" "MEDGEN:2918" "GARD:19727" "MESH:D002422" @@ -150905,6 +150897,15 @@ "MONDO:0020572" "NCIT:C121572" "MeSH:D002422" + "SCTID:363352004" + "ICD9:154.2" + "UMLS:C0153445" + "DOID:0050688" + "MEDGEN:509296" + "UMLS:C4692584" + "OMIM:248400" + "MEDGEN:1632207" + "MESH:C565420" "DOID:4059" "NCIT:C5236" "UMLS:C1335176" @@ -151136,8 +151137,6 @@ "MEDGEN:1808950" "UMLS:C5676996" "OMIM:619902" - "ICD10:Q82.8" - "OMIM:618625" "neuronames:643" "EHDAA2:0000232" "BIRNLEX:1489" @@ -151173,6 +151172,8 @@ "MEDGEN:1842694" "SCTID:67854007" "GARD:21047" + "ICD10:Q82.8" + "OMIM:618625" "KEGG COMPOUND:C00955" "HMDB:0003447" "SCTID:428054006" @@ -151433,11 +151434,11 @@ "MESH:C567034" "UMLS:C1970269" "icd11.foundation:809856670" + "PMID:29875488" "OMIMPS:203655" "SNOMEDCT:112113009" "NCIt:C2289" "MeSH:D012739" - "PMID:29875488" "ICD10:R19" "ICD10:Q45" "BTO:0001547" @@ -151647,12 +151648,12 @@ "UMLS:C1859082" "OMIM:215850" "PMID:24816252" + "PMID:21586637" "PMID:37794183" "MEDGEN:102260" "NCIT:C116812" "SCTID:70572005" "UMLS:C0153252" - "PMID:21586637" "GARD:19556" "MedDRA:10061080" "Orphanet:98724" @@ -151676,6 +151677,8 @@ "GARD:15666" "PubChem:426409" "CAS:77340-50-2" + "OMIM:601152" + "GARD:18091" "MONDO:0006447" "GARD:17561" "ICD10:C62.1" @@ -151688,8 +151691,6 @@ "Orphanet:363494" "ICDO:9065/3" "UMLS:C2057625" - "OMIM:601152" - "GARD:18091" "GARD:13472" "Orphanet:447792" "MESH:C565020" @@ -151703,6 +151704,12 @@ "UMLS:C5241442" "MEDGEN:1717402" "GARD:16379" + "NCIT:C35492" + "MEDGEN:115929" + "UMLS:C0233705" + "MONDO:0003736" + "DOID:602" + "NCIt:C35492" "NCIt:C50910" "SNOMEDCT:312894000" "SNOMEDCT:78441005" @@ -151710,12 +151717,6 @@ "SNOMEDCT_US:78441005" "UMLS:C0029453" "UMLS:C0747078" - "NCIT:C35492" - "MEDGEN:115929" - "UMLS:C0233705" - "MONDO:0003736" - "DOID:602" - "NCIt:C35492" "PMID:25147954" "MEDGEN:102261" "SCTID:71590000" @@ -151908,9 +151909,9 @@ "KEGG COMPOUND:C07140" "MeSH:D013988" "Patent:US4051141" - "Wikipedia:Ticlopidine" "SNOMEDCT:108971003" "Reaxys:1216802" + "Wikipedia:Ticlopidine" "LINCS:LSM-1986" "UMLS:C4305324" "icd11.foundation:897773833" @@ -152002,6 +152003,7 @@ "ICD10:G24.1" "KEGG:D00547" "DrugBank:DB01236" + "Wikipedia:Sevoflurane" "SNOMEDCT:108395008" "NCIt:C47717" "Patent:DE1954268" @@ -152012,7 +152014,6 @@ "KEGG:C07520" "Drug_Central:2439" "SNOMEDCT:386842005" - "Wikipedia:Sevoflurane" "PMID:28240269" "EFO:0006471" "PMID:25224099" @@ -152483,12 +152484,12 @@ "MEDGEN:1826045" "UMLS:C5679724" "Orphanet:262658" + "PMID:29875488" "NCIt:C42559" "MO:980" "SNOMEDCT:420453007" "SNOMEDCT:257962003" "SNOMEDCT:257984003" - "PMID:29875488" "SNOMEDCT:75953000" "NCIt:C86841" "MeSH:D014734" @@ -152638,11 +152639,11 @@ "MEDGEN:233808" "UMLS:C1335165" "DOID:5697" - "MeSH:D013717" "MedDRA:10043261" + "MeSH:D013717" "DOID:970" - "UMLS:C0039520" "SCTID:67801009" + "UMLS:C0039520" "ICD10:M67" "ICD10:M65" "icd11.foundation:163006370" @@ -152862,20 +152863,6 @@ "PMID:33634981" "RRID:CVCL_6E30" "NCIt:C45447" - "OMIM:117000" - "MONDO:0007294" - "NCIT:C83010" - "MEDGEN:199773" - "NANDO:1200479" - "NANDO:2200870" - "DOID:3529" - "UMLS:C0751951" - "Orphanet:597" - "GARD:6014" - "MeSH:D020512" - "SCTID:43152001" - "icd11.foundation:2065822840" - "MESH:D020512" "PMID:18472761" "KEGG:C06911" "MeSH:D002945" @@ -152908,6 +152895,20 @@ "PMID:10883661" "Gmelin:2519" "PMID:23651576" + "OMIM:117000" + "MONDO:0007294" + "NCIT:C83010" + "MEDGEN:199773" + "NANDO:1200479" + "NANDO:2200870" + "DOID:3529" + "UMLS:C0751951" + "Orphanet:597" + "GARD:6014" + "MeSH:D020512" + "SCTID:43152001" + "icd11.foundation:2065822840" + "MESH:D020512" "NCIt:C116585" "MedDRA:10055374" "SNOMEDCT:95453001" @@ -153077,15 +153078,15 @@ "PMID:37794183" "NCIt:C51812" "UMLS:C0311237" - "Wikipedia:Spindle_apparatus" "OMIM:616280" "ICD10:G60.0" + "Wikipedia:Spindle_apparatus" + "ICD10:Q87.8" + "OMIM:211770" "Beilstein:3536580" "PDBeChem:IMD" "Gmelin:122674" "Beilstein:4127185" - "ICD10:Q87.8" - "OMIM:211770" "UMLS:C2931059" "MEDGEN:419706" "GARD:3390" @@ -153101,7 +153102,6 @@ "SNOMEDCT_US:7973008" "Orphanet:276234" "SNOMEDCT:433579005" - "UMLS:C0015027" "NCIT:C12711" "Wikipedia:Ethmoid_bone" "VHOG:0001317" @@ -153112,6 +153112,7 @@ "BTO:0004140" "MA:0001483" "GAID:212" + "UMLS:C0015027" "UMLS:C5575558" "MEDGEN:1826002" "GARD:17437" @@ -154019,7 +154020,6 @@ "MeSH:C537558" "ICD10:Q78.0" "PMID:27111506" - "Patent:US3644355" "CAS:27314-13-2" "Patent:BE712832" "PPDB:486" @@ -154030,6 +154030,7 @@ "PDBeChem:NRF" "PMID:16659463" "PMID:26735720" + "Patent:US3644355" "PMID:37794183" "PMID:32393786" "PMID:35347128" @@ -154159,8 +154160,8 @@ "Wikipedia:Rosacea" "MONDO:0006604" "DOID:262" - "MEDGEN:1847044" "NCIT:C4527" + "MEDGEN:1847044" "UMLS:C5848097" "SCTID:254923001" "ICD10:E71.1" @@ -154485,6 +154486,7 @@ "icd11.foundation:942697844" "Orphanet:85198" "PMID:28240269" + "PMID:23823483" "icd11.foundation:530611243" "NANDO:2201206" "Orphanet:77292" @@ -154502,7 +154504,6 @@ "GARD:15926" "UMLS:C3714995" "DOID:0110445" - "PMID:23823483" "SNOMEDCT:3122000" "MEDGEN:1806624" "DOID:0081142" @@ -154684,6 +154685,7 @@ "UMLS:C0019159" "MEDGEN:42418" "MeSH:D006506" + "PMID:28740083" "MedDRA:10065569" "MEDGEN:489829" "SCTID:19620000" @@ -154692,7 +154694,6 @@ "NCIt:C118755" "NCIT:C118755" "UMLS:C0271055" - "PMID:28740083" "GARD:1696" "MESH:C562704" "DOID:0060872" @@ -154901,10 +154902,10 @@ "UMLS:C0029454" "SNOMEDCT_US:1926006" "SNOMEDCT_US:367489004" - "OMIM:126550" - "ICD10:M85.8" "MeSH:D056830" "PMID:29875488" + "OMIM:126550" + "ICD10:M85.8" "PMID:24816252" "UMLS:C5568766" "Orphanet:528084" @@ -154964,12 +154965,12 @@ "OMIM:607458" "MESH:C537197" "PMID:28240269" + "NCIt:C19924" "GARD:20854" "MEDGEN:1379206" "Orphanet:262672" "SCTID:726355001" "UMLS:C4518504" - "NCIt:C19924" "UMLS:C0034960" "DOID:10582" "MEDGEN:11161" @@ -155116,11 +155117,11 @@ "MEDGEN:155610" "GARD:21048" "Orphanet:276238" - "MEDGEN:65968" "NCIT:C3875" "SCTID:254949006" "DOID:5503" "UMLS:C0238432" + "MEDGEN:65968" "ICD10:H18.5" "GARD:20743" "ICDO:9561/3" @@ -155340,6 +155341,10 @@ "RRID:CVCL_7929" "MO:124" "PMID:29875488" + "MeSH:C537901" + "OMIM:241850" + "ICD10:E03.1" + "UMLS:C1855794" "MeSH:D014201" "MedDRA:10044560" "MedDRA:10044561" @@ -155355,10 +155360,6 @@ "MEDGEN:76469" "Orphanet:137" "PMID:37164013" - "MeSH:C537901" - "OMIM:241850" - "ICD10:E03.1" - "UMLS:C1855794" "OMIM:615821" "OMIM:605676" "Orphanet:544488" @@ -155960,9 +155961,9 @@ "DOID:7041" "MEDGEN:232360" "NCIT:C6102" - "PMID:26825632" "SNOMEDCT:12170000" "PO:0025022" + "PMID:26825632" "SCTID:3218000" "DOID:1564" "ICD9:110-118.99" @@ -156337,6 +156338,8 @@ "MedDRA:10055608" "MeSH:D006450" "ICD10:Q87.0" + "ICD10:D81.2" + "OMIM:608971" "SNOMEDCT:123973009" "MeSH:D009011" "ICD10:S52.27" @@ -156349,10 +156352,8 @@ "GARD:17893" "MEDGEN:1798905" "UMLS:C5567482" - "ICD10:D81.2" - "OMIM:608971" - "NCIT:C131504" "MedDRA:10044055" + "NCIT:C131504" "UMLS:C3150901" "SCTID:763367009" "GARD:17378" @@ -156705,9 +156706,9 @@ "ICD10:Q87.8" "OMIM:135500" "OMIM:618658" - "PMID:37794183" "UMLS:C4025756" "Fyler:1453" + "PMID:37794183" "EFO:0002513" "UMLS:C0034051" "FMA:82493" @@ -156995,8 +156996,8 @@ "UMLS:C0235946" "NCIt:C16833" "MeSH:D008511" - "PMID:29875488" "UMLS:C4024613" + "PMID:29875488" "Orphanet:402082" "MEDGEN:375302" "OMIM:613832" @@ -157052,6 +157053,7 @@ "UMLS:C5436637" "MEDGEN:1759445" "Orphanet:631076" + "PMID:29875488" "PMID:21357296" "PMID:18544347" "PMID:6056488" @@ -157061,7 +157063,6 @@ "KNApSAcK:C00002267" "KEGG:C10826" "CAS:77-59-8" - "PMID:29875488" "SCTID:763839005" "UMLS:C4016054" "Orphanet:284979" @@ -157136,8 +157137,8 @@ "MEDGEN:102309" "ICD9:233.5" "NCIT:C27790" - "PMID:35347128" "https://pubchem.ncbi.nlm.nih.gov/compound/122198213" + "PMID:35347128" "PMID:33634981" "CAS:754920-02-0" "MEDGEN:87438" @@ -157241,13 +157242,13 @@ "ICD10CM:J67.2" "PMID:33634981" "PMID:29875488" - "ICD10:Q71.1" "RRID:CVCL_E813" "MEDGEN:1371401" "SCTID:733418003" "GARD:17637" "Orphanet:397715" "UMLS:C4518774" + "ICD10:Q71.1" "icd11.foundation:558060012" "SCTID:6807001" "MONDO:0006692" @@ -157369,11 +157370,11 @@ "UMLS:C0282207" "MedDRA:10062907" "OMIM:175500" - "MeSH:D014286" "PMID:29875488" - "PMID:37164013" + "MeSH:D014286" "PMID:30476138" "CMO:0000257" + "PMID:37164013" "MEDGEN:777096" "NCIT:C4575" "UMLS:C3665405" @@ -157400,7 +157401,6 @@ "DOID:0111613" "OMIM:616949" "PMID:29875488" - "PMID:37596262" "ICD10:D12.6" "MESH:C563924" "OMIM:608456" @@ -157408,6 +157408,7 @@ "Orphanet:247798" "GARD:0010805" "UMLS:C1837991" + "PMID:37596262" "PMID:32641083" "UMLS:C1857829" "Orphanet:168796" @@ -157645,7 +157646,6 @@ "Orphanet:199315" "UMLS:C5680522" "MEDGEN:1843133" - "EMAPA:26981" "BTO:0002859" "NCIT:C32538" "UMLS:C0227176" @@ -157653,6 +157653,7 @@ "MA:0002680" "FMA:62996" "SCTID:362127004" + "EMAPA:26981" "RRID:CVCL_0075" "BTO:0004183" "CLO:0008186" @@ -158108,13 +158109,13 @@ "PMID:35347128" "Orphanet:98565" "PMID:29875488" + "PMID:37164013" "icd11.foundation:1623148241" "DOID:11669" "UMLS:C0155213" "ICD9:374.54" "SCTID:79830009" "MEDGEN:509853" - "PMID:37164013" "CLO:0009853" "BTO:0004620" "RRID:CVCL_1844" @@ -158631,10 +158632,10 @@ "MEDGEN:424922" "OMIM:125490" "GARD:12796" + "PMID:35347128" "MeSH:D003593" "Wikipedia:Cytoplasm" "NCIt:C13226" - "PMID:35347128" "PMID:29875488" "PMID:35050183" "UMLS:C1833136" @@ -158713,7 +158714,6 @@ "Beilstein:83366" "MetaCyc:CPD0-2182" "PMID:28369058" - "PMID:28240269" "MONDO:0005588" "UMLS:C2887631" "MEDGEN:853868" @@ -158727,6 +158727,7 @@ "PDBeChem:OCE" "CAS:505-48-6" "Wikipedia:Suberic_acid" + "PMID:28240269" "UMLS:C2874202" "MEDGEN:1789612" "OMIM:619613" @@ -158750,14 +158751,14 @@ "OMIM:167750" "UMLS:C0149955" "SCTID:40315008" - "MEDGEN:1768257" - "UMLS:C5436874" - "GARD:18492" - "OMIM:619130" "NCIT:C5667" "UMLS:C1334448" "DOID:5265" "MEDGEN:232711" + "MEDGEN:1768257" + "UMLS:C5436874" + "GARD:18492" + "OMIM:619130" "PMID:35347128" "MEDGEN:4653" "UMLS:C0015624" @@ -158841,8 +158842,6 @@ "icd11.foundation:1191822552" "UMLS:C2673609" "MEDGEN:382142" - "OMIM:260650" - "ICD10:E72.8" "OMIM:617121" "ICD10:H35.5" "ICD10:Q04.3" @@ -158852,6 +158851,8 @@ "OMIM:614970" "OMIM:617562" "PMID:29875488" + "OMIM:260650" + "ICD10:E72.8" "NCIt:C53310" "MeSH:D015390" "MEDGEN:1631133" @@ -160026,14 +160027,14 @@ "DOID:2855" "OMIM:615999" "PMID:29875488" + "UMLS:C1333118" + "MEDGEN:234165" + "NCIT:C5675" "CAS:10066-90-7" "Reaxys:3331457" "PMID:12831506" "Beilstein:6457132" "PMID:24401842" - "UMLS:C1333118" - "MEDGEN:234165" - "NCIT:C5675" "UMLS:C2931676" "OMIM:239840" "MONDO:0006128" @@ -160068,6 +160069,7 @@ "ICD9:210.4" "NCIT:C4411" "MEDGEN:87508" + "PMID:29875488" "OMIM:602473" "DOID:0060640" "MEDGEN:355966" @@ -160079,7 +160081,6 @@ "UMLS:C1865349" "Orphanet:459056" "OMIM:616680" - "PMID:29875488" "GARD:17347" "Orphanet:293910" "MEDGEN:1640757" @@ -160136,6 +160137,13 @@ "ICD9:374.55" "PMID:37164013" "PMID:23823483" + "NCIt:C12388" + "MA:0000340" + "BTO:0000657" + "FMA:7207" + "SAEL:56" + "MAT:0000045" + "EV:0100074" "ICD9:721.6" "DOID:6652" "GARD:842" @@ -160150,13 +160158,6 @@ "MONDO:0007127" "MeSH:D004057" "MEDGEN:5695" - "NCIt:C12388" - "MA:0000340" - "BTO:0000657" - "FMA:7207" - "SAEL:56" - "MAT:0000045" - "EV:0100074" "UMLS:C1861835" "MEDGEN:350520" "GARD:5554" @@ -160299,17 +160300,17 @@ "SCTID:229765004" "BTO:0001006" "MA:0000030" + "PMID:29875488" "MedDRA:10062194" "MeSH:D009362" "NCIt:C19151" - "PMID:29875488" + "PMID:33634981" "MAT:0000062" "ZFA:0001383" "VSAO:0000179" "TAO:0001383" "MIAA:0000062" "EFO:0003468" - "PMID:33634981" "MONDO:0006108" "UMLS:C0008309" "NCIT:C2942" @@ -160577,7 +160578,6 @@ "DOID:5913" "MEDGEN:272380" "NCIT:C5823" - "PMID:29875488" "MEDGEN:393656" "OMIM:612253" "UMLS:C2677096" @@ -160596,6 +160596,7 @@ "MEDGEN:337052" "GARD:15290" "OMIM:304950" + "PMID:29875488" "PMID:35347128" "PMID:29875488" "PMID:37006874" @@ -160906,11 +160907,11 @@ "UMLS:C3151069" "OMIM:613776" "DOID:0060402" + "PMID:37794183" "OMIM:618272" "UMLS:CN226190" "ICD10:Q87.3" "Orphanet:404476" - "PMID:37794183" "MESH:C535312" "ICD9:791.9" "SCTID:237957007" @@ -161334,9 +161335,9 @@ "Orphanet:293843" "SCTID:720756005" "PMID:29875488" - "ICD10:Q71.1" "RRID:CVCL_GY01" "Orphanet:397755" + "ICD10:Q71.1" "MESH:D002539" "MEDGEN:2963" "DOID:3527" @@ -161608,6 +161609,11 @@ "MEDGEN:1651269" "Orphanet:276280" "UMLS:C4749904" + "PMID:36451823" + "Orphanet:352530" + "GARD:21521" + "UMLS:C4706414" + "MEDGEN:1644787" "ICD9:093.1" "MeSH:D013589" "SNOMEDCT:20735004" @@ -161620,11 +161626,6 @@ "MONDO:0006992" "UMLS:C0003511" "icd11.foundation:921262131" - "PMID:36451823" - "Orphanet:352530" - "GARD:21521" - "UMLS:C4706414" - "MEDGEN:1644787" "UMLS:C0151798" "SNOMEDCT_US:87248009" "Wikipedia:Vitamin_D" @@ -161980,8 +161981,6 @@ "DOID:0111052" "NANDO:2200671" "SCTID:128098009" - "OMIM:602541" - "ICD10:G71.2" "FBbt:00005504" "OMIM:125350" "Orphanet:412206" @@ -161990,6 +161989,8 @@ "MESH:C565114" "MEDGEN:338882" "UMLS:C1852222" + "OMIM:602541" + "ICD10:G71.2" "RRID:CVCL_2187" "BTO:0004766" "PMID:37794183" @@ -162090,9 +162091,9 @@ "OMIM:250420" "ICD10:Q78.5" "NCIt:C14174" + "OMIM:617831" "Orphanet:275828" "ICD10:I27.2" - "OMIM:617831" "GARD:19479" "UMLS:C5680367" "MEDGEN:1842733" @@ -162281,15 +162282,15 @@ "DOID:0050436" "UMLS:C0524582" "ICD9:759.89" - "PMID:29875488" "Reaxys:10227786" - "NCIt:C26938" - "MedDRA:10016667" + "PMID:29875488" "UMLS:C0686615" "SCTID:92408009" "MEDGEN:146355" "NCIT:C4902" "ICD9:211.9" + "NCIt:C26938" + "MedDRA:10016667" "MedDRA:10033266" "MEDGEN:38966" "DOID:5425" @@ -163186,8 +163187,8 @@ "SCTID:92691004" "EFO:1000283" "NCIT:C3642" - "MEDGEN:1684800" "ICD10:D07.5" + "MEDGEN:1684800" "ICD9:233.4" "PMID:29875488" "ICD10:E75.0" @@ -163748,14 +163749,6 @@ "DOID:9651" "SCTID:417996009" "MESH:D054143" - "PMID:36168886" - "MEDGEN:324636" - "MESH:C536343" - "OMIM:609033" - "UMLS:C1836916" - "SCTID:724065003" - "GARD:9898" - "Orphanet:88628" "NCIT:C6915" "ICDO:9678/3" "ICD10:C83.8" @@ -163772,6 +163765,14 @@ "SCTID:713516007" "MEDGEN:220953" "UMLS:C1292753" + "PMID:36168886" + "MEDGEN:324636" + "MESH:C536343" + "OMIM:609033" + "UMLS:C1836916" + "SCTID:724065003" + "GARD:9898" + "Orphanet:88628" "UMLS:C3278123" "MONDO:0006265" "DOID:7144" @@ -163918,6 +163919,7 @@ "UMLS:C1861964" "OMIM:114140" "MEDGEN:349400" + "PMID:28240269" "MESH:D004451" "icd11.foundation:342249036" "DOID:1218" @@ -163927,7 +163929,6 @@ "SCTID:52918004" "MEDGEN:3956" "UMLS:C0013514" - "PMID:28240269" "NCIt:C92261" "UMLS:C1275423" "PDBeChem:TYS" @@ -163992,8 +163993,6 @@ "SCTID:76047005" "MedDRA:10030345" "PMID:35347128" - "PubChem:9903482" - "CAS:56353-15-2" "PMID:33634981" "NCIT:C7636" "SCTID:267581004" @@ -164008,6 +164007,8 @@ "UMLS:C0751781" "GARD:5643" "Orphanet:101" + "PubChem:9903482" + "CAS:56353-15-2" "SNOMEDCT:79875007" "UMLS:C0031306" "DOID:3262" @@ -164219,8 +164220,8 @@ "CALOHA:TS-2081" "MESH:D010994" "SCTID:181609007" - "FMA:9583" "Wikipedia:Pleura" + "FMA:9583" "UMLS:C0032225" "VHOG:0000394" "GAID:360" diff --git a/src/ontology/version.txt b/src/ontology/version.txt index df3ad455..825ba766 100644 --- a/src/ontology/version.txt +++ b/src/ontology/version.txt @@ -1 +1 @@ -3.72.0 +3.73.0