diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv new file mode 100644 index 00000000..9be6db7c --- /dev/null +++ b/src/mappings/mondo-nando.sssom.tsv @@ -0,0 +1,2366 @@ +# creator_id: +# - orcid:0000-0003-0011-764X +# - orcid:0000-0002-0170-9172 +# curie_map: +# MONDO: http://purl.obolibrary.org/obo/MONDO_ +# NANDO: http://nanbyodata.jp/ontology/NANDO_ +# orcid: https://orcid.org/ +# owl: http://www.w3.org/2002/07/owl# +# rdf: http://www.w3.org/1999/02/22-rdf-syntax-ns# +# rdfs: http://www.w3.org/2000/01/rdf-schema# +# semapv: https://w3id.org/semapv/vocab/ +# skos: http://www.w3.org/2004/02/skos/core# +# sssom: https://w3id.org/sssom/ +# license: https://creativecommons.org/licenses/by/4.0/ +# mapping_provider: MONDO:NANDO +# mapping_set_description: This mapping set is manually curated by the NANDO team at +# nanbyodata.jp. +# mapping_set_id: https://w3id.org/sssom/mappings/efd77aeb-7328-429f-a425-44497b148b42 +# mapping_set_title: NANDO - Mondo mappings provided by nanbyodata.jp +subject_id subject_label predicate_id object_id object_label mapping_justification +MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch NANDO:2200317 Congenital growth hormone deficiency semapv:MappingInversion +MONDO:0000087 polymicrogyria skos:closeMatch NANDO:1201071 Polymicrogyria semapv:MappingInversion +MONDO:0000088 precocious puberty skos:closeMatch NANDO:2100135 Precocious puberty semapv:MappingInversion +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch NANDO:1200334 ICF syndrome semapv:MappingInversion +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch NANDO:2200708 ICF syndrome semapv:MappingInversion +MONDO:0000147 polyposis skos:closeMatch NANDO:2100257 Polyposis semapv:MappingInversion +MONDO:0000153 transposition of the great arteries skos:closeMatch NANDO:2200258 Complete transposition of the great arteries semapv:MappingInversion +MONDO:0000188 GLUT1 deficiency syndrome skos:closeMatch NANDO:1200799 Glucose transporter 1 deficiency semapv:MappingInversion +MONDO:0000190 ventricular fibrillation skos:closeMatch NANDO:2100052 Ventricular fibrillation semapv:MappingInversion +MONDO:0000190 ventricular fibrillation skos:closeMatch NANDO:2200227 Ventricular fibrillation semapv:MappingInversion +MONDO:0000351 disorder of methionine catabolism skos:closeMatch NANDO:2200475 Hypermethioninemia semapv:MappingInversion +MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch NANDO:1200215 Ullrich disease semapv:MappingInversion +MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch NANDO:2200862 Ullrich congenital muscular dystrophy semapv:MappingInversion +MONDO:0000390 vitelliform macular dystrophy skos:closeMatch NANDO:1200932 Vitelliform macular dystrophy semapv:MappingInversion +MONDO:0000437 cerebellar ataxia skos:closeMatch NANDO:1200037 Spinocerebellar degeneration semapv:MappingInversion +MONDO:0000437 cerebellar ataxia skos:closeMatch NANDO:2100238 Spinocerebellar degeneration semapv:MappingInversion +MONDO:0000437 cerebellar ataxia skos:closeMatch NANDO:2200882 Spinocerebellar degeneration semapv:MappingInversion +MONDO:0000450 secondary progressive multiple sclerosis skos:closeMatch NANDO:1200026 Secondary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000450 secondary progressive multiple sclerosis skos:closeMatch NANDO:2201321 Secondary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000451 primary progressive multiple sclerosis skos:closeMatch NANDO:1200025 Primary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000451 primary progressive multiple sclerosis skos:closeMatch NANDO:2201320 Primary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000455 cone dystrophy skos:closeMatch NANDO:1200936 Cone dystrophy semapv:MappingInversion +MONDO:0000456 cerebral creatine deficiency syndrome skos:closeMatch NANDO:1201032 Cerebral creatine deficiency syndromes semapv:MappingInversion +MONDO:0000456 cerebral creatine deficiency syndrome skos:closeMatch NANDO:2100226 Cerebral creatine deficiency syndromes semapv:MappingInversion +MONDO:0000456 cerebral creatine deficiency syndrome skos:closeMatch NANDO:2200842 Cerebral creatine deficiency syndrome semapv:MappingInversion +MONDO:0000468 third-degree atrioventricular block skos:closeMatch NANDO:2200214 Complete atrio-ventricular block semapv:MappingInversion +MONDO:0000521 salivary gland carcinoma skos:closeMatch NANDO:2200076 Salivary grand carcinoma semapv:MappingInversion +MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:closeMatch NANDO:2100014 Familial juvenile hyperuricemic nephropathy semapv:MappingInversion +MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:closeMatch NANDO:2200139 Familial juvenile hyperuricemic nephropathy semapv:MappingInversion +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:closeMatch NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system semapv:MappingInversion +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:closeMatch NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system semapv:MappingInversion +MONDO:0000721 xanthinuria skos:closeMatch NANDO:2200588 Xanthinuria semapv:MappingInversion +MONDO:0000811 anomalous left coronary artery from the pulmonary artery skos:closeMatch NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery semapv:MappingInversion +MONDO:0000839 obsolete congenital abnormality skos:closeMatch NANDO:1200957 Congenital anomalies syndrome semapv:MappingInversion +MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:closeMatch NANDO:2200002 Mature B-cell lymphoblastic leukemia semapv:MappingInversion +MONDO:0000875 adult acute monocytic leukemia skos:closeMatch NANDO:2200008 Acute monocytic leukemia semapv:MappingInversion +MONDO:0000875 adult acute monocytic leukemia skos:closeMatch NANDO:2200009 Acute monocytic leukemia semapv:MappingInversion +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch NANDO:1200522 Dystonia 11 semapv:MappingInversion +MONDO:0000940 trypanosomiasis skos:closeMatch NANDO:2200774 Trypanosomiasis semapv:MappingInversion +MONDO:0000984 thalassemia skos:closeMatch NANDO:2200626 Thalassemia semapv:MappingInversion +MONDO:0000995 familial periodic paralysis skos:closeMatch NANDO:1200502 Hereditary periodic paralysis semapv:MappingInversion +MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch NANDO:2100027 Fanconi syndrome semapv:MappingInversion +MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch NANDO:2200187 Fanconi syndrome semapv:MappingInversion +MONDO:0001085 interstitial nephritis skos:closeMatch NANDO:2200136 Tubulointerstitial nephritis semapv:MappingInversion +MONDO:0001105 renal hypertension skos:closeMatch NANDO:2100016 Renovascular hypertension semapv:MappingInversion +MONDO:0001105 renal hypertension skos:closeMatch NANDO:2200141 Renovascular hypertension semapv:MappingInversion +MONDO:0001110 chronic pyelonephritis skos:closeMatch NANDO:2100012 Chronic pyelonephritis semapv:MappingInversion +MONDO:0001110 chronic pyelonephritis skos:closeMatch NANDO:2200137 Chronic pyelonephritis semapv:MappingInversion +MONDO:0001115 familial polycythemia skos:closeMatch NANDO:2100187 Familial polycythemia semapv:MappingInversion +MONDO:0001115 familial polycythemia skos:closeMatch NANDO:2200644 Familial polycythemia semapv:MappingInversion +MONDO:0001220 hypoparathyroidism skos:closeMatch NANDO:1200775 Hypoparathyroidism semapv:MappingInversion +MONDO:0001220 hypoparathyroidism skos:closeMatch NANDO:2100124 Hypoparathyroidism semapv:MappingInversion +MONDO:0001220 hypoparathyroidism skos:closeMatch NANDO:2200345 Hypoparathyroidism semapv:MappingInversion +MONDO:0001243 disseminated intravascular coagulation skos:closeMatch NANDO:2200639 Disseminated intravascular coagulation semapv:MappingInversion +MONDO:0001261 Mobitz type II atrioventricular block skos:closeMatch NANDO:2100044 Mobitz type II second degree atrioventricular block semapv:MappingInversion +MONDO:0001261 Mobitz type II atrioventricular block skos:closeMatch NANDO:2200213 Mobitz type II second degree atrioventricular block semapv:MappingInversion +MONDO:0001298 congenital mitral valve insufficiency skos:closeMatch NANDO:2200303 Mitral regurgitation semapv:MappingInversion +MONDO:0001324 obsolete hyperandrogenism skos:closeMatch NANDO:2200380 Hyperandrogenism semapv:MappingInversion +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch NANDO:1200395 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch NANDO:2100121 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch NANDO:2200341 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0001336 familial hyperlipidemia skos:closeMatch NANDO:2200603 Familial combined hyperlipidemia semapv:MappingInversion +MONDO:0001341 selective IgA deficiency disease skos:closeMatch NANDO:1200347 Selective IgA deficiency semapv:MappingInversion +MONDO:0001341 selective IgA deficiency disease skos:closeMatch NANDO:2200720 Selective IgA deficiency semapv:MappingInversion +MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch NANDO:1200491 Facioscapulohumeral muscular dystrophy semapv:MappingInversion +MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch NANDO:2200859 Facioscapulohumeral muscular dystrophy semapv:MappingInversion +MONDO:0001414 osteopoikilosis skos:closeMatch NANDO:2201024 Osteopoikilosis semapv:MappingInversion +MONDO:0001422 primary aldosteronism skos:closeMatch NANDO:2200361 Aldosteronism semapv:MappingInversion +MONDO:0001437 pulmonary alveolar proteinosis skos:closeMatch NANDO:1200746 Pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0001493 chronic pulmonary heart disease skos:closeMatch NANDO:2200299 Chronic cor pulmonale semapv:MappingInversion +MONDO:0001516 spinal muscular atrophy skos:closeMatch NANDO:1200003 Spinal muscular atrophy semapv:MappingInversion +MONDO:0001516 spinal muscular atrophy skos:closeMatch NANDO:2100231 Spinal muscular atrophy semapv:MappingInversion +MONDO:0001516 spinal muscular atrophy skos:closeMatch NANDO:2200853 Spinal muscular atrophy semapv:MappingInversion +MONDO:0001558 Potter sequence skos:closeMatch NANDO:2200157 Potter syndrome semapv:MappingInversion +MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch NANDO:2200547 Mucopolysaccharidosis type I semapv:MappingInversion +MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch NANDO:2201168 Hurler Disease semapv:MappingInversion +MONDO:0001645 crescentic glomerulonephritis skos:closeMatch NANDO:1200714 Rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0001645 crescentic glomerulonephritis skos:closeMatch NANDO:1200723 Crescentic glomerulonephritis semapv:MappingInversion +MONDO:0001676 erythropoietic protoporphyria skos:closeMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0001676 erythropoietic protoporphyria skos:closeMatch NANDO:2201266 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0001700 megaloblastic anemia skos:closeMatch NANDO:2100176 Megaloblastic anemia semapv:MappingInversion +MONDO:0001700 megaloblastic anemia skos:closeMatch NANDO:2200612 Megaloblastic anemia semapv:MappingInversion +MONDO:0001705 pure red-cell aplasia skos:closeMatch NANDO:2100177 Pure red cell aplasia semapv:MappingInversion +MONDO:0001713 inherited aplastic anemia skos:closeMatch NANDO:1200302 Congenital aplastic anemia semapv:MappingInversion +MONDO:0001713 inherited aplastic anemia skos:closeMatch NANDO:2201275 Congenital aplastic anemia semapv:MappingInversion +MONDO:0001734 tuberous sclerosis skos:closeMatch NANDO:1200607 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0001734 tuberous sclerosis skos:closeMatch NANDO:2200826 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0001741 hyperparathyroidism skos:closeMatch NANDO:2100123 Hyperparathyroidism semapv:MappingInversion +MONDO:0001741 hyperparathyroidism skos:closeMatch NANDO:2200343 Hyperparathyroidism semapv:MappingInversion +MONDO:0001790 spinal cord lipoma skos:closeMatch NANDO:2200815 Spinal lipoma semapv:MappingInversion +MONDO:0001823 sick sinus syndrome skos:closeMatch NANDO:2100043 Sick sinus syndrome semapv:MappingInversion +MONDO:0001823 sick sinus syndrome skos:closeMatch NANDO:2200212 Sick sinus syndrome semapv:MappingInversion +MONDO:0001909 renal tubular acidosis skos:closeMatch NANDO:2100019 Renal tubular acidosis semapv:MappingInversion +MONDO:0001909 renal tubular acidosis skos:closeMatch NANDO:2200144 Renal tubular acidosis semapv:MappingInversion +MONDO:0001927 pulmonary valve insufficiency skos:closeMatch NANDO:2200305 Pulmonary valve regurgitation semapv:MappingInversion +MONDO:0001946 obsolete hyperestrogenism skos:closeMatch NANDO:2200379 Hyperestrogenism semapv:MappingInversion +MONDO:0001969 mixed gonadal dysgenesis skos:closeMatch NANDO:2200388 Mixed gonadal dysgenesis semapv:MappingInversion +MONDO:0001982 Niemann-Pick disease skos:closeMatch NANDO:2200561 Niemann-Pick disease semapv:MappingInversion +MONDO:0002012 methylmalonic acidemia skos:closeMatch NANDO:1200793 Methylmalonic acidemia semapv:MappingInversion +MONDO:0002012 methylmalonic acidemia skos:closeMatch NANDO:2200491 Methylmalonic acidemia semapv:MappingInversion +MONDO:0002013 lymphangioma skos:closeMatch NANDO:2201032 Lymphangioma semapv:MappingInversion +MONDO:0002070 ventricular septal defect skos:closeMatch NANDO:2100087 Ventricular septal defect semapv:MappingInversion +MONDO:0002070 ventricular septal defect skos:closeMatch NANDO:2200270 Ventricular septal defect semapv:MappingInversion +MONDO:0002108 thyroid cancer skos:closeMatch NANDO:2200074 Thyroid cancer semapv:MappingInversion +MONDO:0002145 disorder of sexual differentiation skos:closeMatch NANDO:2100140 Disorders of sex development semapv:MappingInversion +MONDO:0002241 factor XIII deficiency skos:closeMatch NANDO:2200681 Factor XIII deficiency semapv:MappingInversion +MONDO:0002244 factor VII deficiency skos:closeMatch NANDO:2200675 Factor VII deficiency semapv:MappingInversion +MONDO:0002247 factor X deficiency skos:closeMatch NANDO:2200678 Factor X deficiency semapv:MappingInversion +MONDO:0002304 protein S deficiency skos:closeMatch NANDO:1201081 Protein S deficiency semapv:MappingInversion +MONDO:0002304 protein S deficiency skos:closeMatch NANDO:2100198 Protein S deficiency semapv:MappingInversion +MONDO:0002304 protein S deficiency skos:closeMatch NANDO:2200690 Protein S deficiency semapv:MappingInversion +MONDO:0002327 intracranial cavernous angioma skos:closeMatch NANDO:2200852 Cavernous angioma of the brain and spinal cord semapv:MappingInversion +MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:closeMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:closeMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:closeMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0002412 disorder of glycogen metabolism skos:closeMatch NANDO:1200838 Hepatic glycogen storage disease semapv:MappingInversion +MONDO:0002413 glycogen storage disease I skos:closeMatch NANDO:1200840 Hepatic glycogen storage disease type Ia semapv:MappingInversion +MONDO:0002413 glycogen storage disease I skos:closeMatch NANDO:1201018 Hepatic glycogen storage disease type I semapv:MappingInversion +MONDO:0002413 glycogen storage disease I skos:closeMatch NANDO:2200538 Glycogen storage disease type I semapv:MappingInversion +MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch NANDO:1200416 Idiopathic interstitial pneumonia semapv:MappingInversion +MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch NANDO:2200199 Idiopathic interstitial pneumonia semapv:MappingInversion +MONDO:0002442 long QT syndrome skos:closeMatch NANDO:2100053 Long QT syndrome semapv:MappingInversion +MONDO:0002442 long QT syndrome skos:closeMatch NANDO:2200228 Long qt syndrome semapv:MappingInversion +MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I semapv:MappingInversion +MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch NANDO:2200123 Membranoproliferative glomerulonephritis semapv:MappingInversion +MONDO:0002470 photosensitive trichothiodystrophy skos:closeMatch NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature semapv:MappingInversion +MONDO:0002473 cystic kidney disease skos:closeMatch NANDO:2200172 Simple renal cyst semapv:MappingInversion +MONDO:0002474 primary hyperoxaluria skos:closeMatch NANDO:2200503 Primary hyperoxaluria semapv:MappingInversion +MONDO:0002540 childhood oligodendroglioma skos:closeMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion +MONDO:0002543 adult oligodendroglioma skos:closeMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion +MONDO:0002546 schwannoma skos:closeMatch NANDO:2200103 Neurinoma semapv:MappingInversion +MONDO:0002561 lysosomal storage disease skos:closeMatch NANDO:1200055 Lysosomal storage disease semapv:MappingInversion +MONDO:0002561 lysosomal storage disease skos:closeMatch NANDO:2100165 Lysosomal storage disease semapv:MappingInversion +MONDO:0002568 tracheal stenosis skos:closeMatch NANDO:2200194 Tracheal stenosis semapv:MappingInversion +MONDO:0002623 pediatric osteosarcoma skos:closeMatch NANDO:2200048 Osteosarcoma semapv:MappingInversion +MONDO:0002637 histiocytosis skos:closeMatch NANDO:2100005 Histiocytosis semapv:MappingInversion +MONDO:0002676 adult fibrosarcoma skos:closeMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion +MONDO:0002678 pediatric fibrosarcoma skos:closeMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion +MONDO:0002714 central nervous system cancer skos:closeMatch NANDO:2100007 Central nervous system tumors semapv:MappingInversion +MONDO:0002718 central nervous system teratoma skos:closeMatch NANDO:2200104 Teratoma of the central nervous system semapv:MappingInversion +MONDO:0002728 rhabdoid tumor skos:closeMatch NANDO:2200057 Malignant rhabdoid tumour semapv:MappingInversion +MONDO:0002794 adult medulloblastoma skos:closeMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion +MONDO:0002797 childhood medulloblastoma skos:closeMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion +MONDO:0002807 bronchial neoplasm skos:closeMatch NANDO:2200081 Bronchial tumour semapv:MappingInversion +MONDO:0002869 heart valve disorder skos:closeMatch NANDO:2100105 Valvular heart disease semapv:MappingInversion +MONDO:0002870 tricuspid valve insufficiency skos:closeMatch NANDO:2200301 Tricuspid valve regurgitation semapv:MappingInversion +MONDO:0002921 congenital structural myopathy skos:closeMatch NANDO:1200482 Centronuclear myopathy semapv:MappingInversion +MONDO:0002921 congenital structural myopathy skos:closeMatch NANDO:2200867 Myotubular myopathy semapv:MappingInversion +MONDO:0002926 clear cell sarcoma skos:closeMatch NANDO:2200062 Clear cell sarcoma semapv:MappingInversion +MONDO:0002933 osteosclerosis skos:closeMatch NANDO:2201022 Osteosclerotic diseases semapv:MappingInversion +MONDO:0003002 dysgerminoma skos:closeMatch NANDO:2200066 Dysgerminoma semapv:MappingInversion +MONDO:0003057 pediatric meningioma skos:closeMatch NANDO:2200094 Meningioma semapv:MappingInversion +MONDO:0003075 bilateral retinoblastoma skos:closeMatch NANDO:2201038 Bilateral retinoblastoma semapv:MappingInversion +MONDO:0003136 anti-basement membrane glomerulonephritis skos:closeMatch NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0003139 mesangial proliferative glomerulonephritis skos:closeMatch NANDO:1201029 Mesangial proliferative glomerulonephritis semapv:MappingInversion +MONDO:0003139 mesangial proliferative glomerulonephritis skos:closeMatch NANDO:2200122 Mesangial proliferative glomerulonephritis semapv:MappingInversion +MONDO:0003157 disappearing bone disease skos:closeMatch NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease semapv:MappingInversion +MONDO:0003157 disappearing bone disease skos:closeMatch NANDO:1200880 obsolete Gorham disease semapv:MappingInversion +MONDO:0003330 urinary tract obstruction skos:closeMatch NANDO:2200178 Obstructive uropathy semapv:MappingInversion +MONDO:0003517 mature teratoma skos:closeMatch NANDO:2200105 Mature teratoma semapv:MappingInversion +MONDO:0003523 gastrin-producing neuroendocrine tumor skos:closeMatch NANDO:2200395 Gastrinoma semapv:MappingInversion +MONDO:0003585 adult liposarcoma skos:closeMatch NANDO:2200065 Liposarcoma semapv:MappingInversion +MONDO:0003587 pediatric liposarcoma skos:closeMatch NANDO:2200065 Liposarcoma semapv:MappingInversion +MONDO:0003659 pediatric lymphoma skos:closeMatch NANDO:2100004 Lymphoma semapv:MappingInversion +MONDO:0003660 adult lymphoma skos:closeMatch NANDO:2100004 Lymphoma semapv:MappingInversion +MONDO:0003664 hemolytic anemia skos:closeMatch NANDO:2200636 Hemolytic anemia semapv:MappingInversion +MONDO:0003689 familial hemolytic anemia skos:closeMatch NANDO:2100183 Hereditary hemolytic anemia semapv:MappingInversion +MONDO:0003759 childhood ovarian yolk sac tumor skos:closeMatch NANDO:2200069 Yolk sac tumour semapv:MappingInversion +MONDO:0003778 inborn error of immunity skos:closeMatch NANDO:1200320 Primary immunodeficiency syndrome semapv:MappingInversion +MONDO:0003778 inborn error of immunity skos:closeMatch NANDO:2100204 Immunodeficiency semapv:MappingInversion +MONDO:0003832 complement deficiency skos:closeMatch NANDO:1200364 Inherited deficiency of complement system semapv:MappingInversion +MONDO:0003832 complement deficiency skos:closeMatch NANDO:2200776 Inherited deficiency of complement system semapv:MappingInversion +MONDO:0003900 connective tissue disorder skos:closeMatch NANDO:2100172 Connective tissue disorder semapv:MappingInversion +MONDO:0003924 adrenal cortex adenoma skos:closeMatch NANDO:2200352 Adrenal adenoma semapv:MappingInversion +MONDO:0003947 hyper-IgM syndrome skos:closeMatch NANDO:1200345 Hyper-IgM syndrome semapv:MappingInversion +MONDO:0003947 hyper-IgM syndrome skos:closeMatch NANDO:2200718 Hyper-IgM syndrome semapv:MappingInversion +MONDO:0003964 myositis ossificans skos:closeMatch NANDO:1200871 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0003964 myositis ossificans skos:closeMatch NANDO:2201020 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0004000 childhood pilocytic astrocytoma skos:closeMatch NANDO:2200084 Pilocytic astrocytoma semapv:MappingInversion +MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch NANDO:1200173 Mitochondrial diseases semapv:MappingInversion +MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch NANDO:2100163 Mitochondrial diseases semapv:MappingInversion +MONDO:0004218 childhood germ cell brain tumor skos:closeMatch NANDO:2200108 Intracranial germ cell tumour semapv:MappingInversion +MONDO:0004335 digestive system disorder skos:closeMatch NANDO:1100013 Gastrointestinal disease semapv:MappingInversion +MONDO:0004355 childhood leukemia skos:closeMatch NANDO:2100002 Leukemia semapv:MappingInversion +MONDO:0004425 hyperthyroidism skos:closeMatch NANDO:2100119 Hyperthyroidism semapv:MappingInversion +MONDO:0004425 hyperthyroidism skos:closeMatch NANDO:2200329 Hyperthyroidism semapv:MappingInversion +MONDO:0004471 bacterial arthritis skos:closeMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0004591 impetigo herpetiformis skos:closeMatch NANDO:1200243 Impetigo herpetiformis semapv:MappingInversion +MONDO:0004691 autosomal dominant polycystic kidney disease skos:closeMatch NANDO:1200368 Autosomal dominant polycystic kidney disease semapv:MappingInversion +MONDO:0004691 autosomal dominant polycystic kidney disease skos:closeMatch NANDO:2200153 Autosomal dominant polycystic kidney disease semapv:MappingInversion +MONDO:0004737 homocystinuria skos:closeMatch NANDO:1201038 Homocystinuria semapv:MappingInversion +MONDO:0004737 homocystinuria skos:closeMatch NANDO:2200474 Homocystinuria semapv:MappingInversion +MONDO:0004739 urea cycle disorder skos:closeMatch NANDO:1200802 Urea cycle disorder semapv:MappingInversion +MONDO:0004782 diabetes insipidus skos:closeMatch NANDO:2100117 Diabetes insipidus semapv:MappingInversion +MONDO:0004822 bronchiectasis skos:closeMatch NANDO:2100036 Bronchiectasis semapv:MappingInversion +MONDO:0004822 bronchiectasis skos:closeMatch NANDO:2200206 Bronchiectasis semapv:MappingInversion +MONDO:0004890 partial central choroid dystrophy skos:closeMatch NANDO:1200939 Central areolar choroidal dystrophy semapv:MappingInversion +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch NANDO:1200705 Hypoplastic left heart syndrome semapv:MappingInversion +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch NANDO:2100071 Hypoplastic left heart syndrome semapv:MappingInversion +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch NANDO:2200249 Hypoplastic left heart syndrome semapv:MappingInversion +MONDO:0004952 Hodgkins lymphoma skos:closeMatch NANDO:2200024 Hodgkin lymphoma semapv:MappingInversion +MONDO:0004955 obsolete metabolic syndrome skos:closeMatch NANDO:1100002 Metabolic disease semapv:MappingInversion +MONDO:0004963 T-cell acute lymphoblastic leukemia skos:closeMatch NANDO:2200003 T-cell lymphoblastic leukemia semapv:MappingInversion +MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified skos:closeMatch NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified semapv:MappingInversion +MONDO:0004974 adrenal gland pheochromocytoma skos:closeMatch NANDO:2200078 Pheochromocytoma semapv:MappingInversion +MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch NANDO:1200002 Amyotrophic lateral sclerosis semapv:MappingInversion +MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch NANDO:2200029 Angioimmunoblastic T-cell lymphoma semapv:MappingInversion +MONDO:0004978 obsolete aortic stenosis skos:closeMatch NANDO:2100098 Aortic stenosis semapv:MappingInversion +MONDO:0004981 atrial fibrillation skos:closeMatch NANDO:2100051 Atrial fibrillation semapv:MappingInversion +MONDO:0004981 atrial fibrillation skos:closeMatch NANDO:2200226 Atrial fibrillation semapv:MappingInversion +MONDO:0004995 cardiovascular disorder skos:closeMatch NANDO:1100005 Cardiovascular disease semapv:MappingInversion +MONDO:0004997 chondroblastoma skos:closeMatch NANDO:2200051 Chondroblastoma semapv:MappingInversion +MONDO:0005006 clear cell sarcoma of kidney skos:closeMatch NANDO:2200044 Clear cell sarcoma of the kidney semapv:MappingInversion +MONDO:0005011 Crohn disease skos:closeMatch NANDO:1200444 Crohn's disease semapv:MappingInversion +MONDO:0005011 Crohn disease skos:closeMatch NANDO:1200446 Colonic Crohn's disease semapv:MappingInversion +MONDO:0005011 Crohn disease skos:closeMatch NANDO:2200921 Crohn's disease semapv:MappingInversion +MONDO:0005015 diabetes mellitus skos:closeMatch NANDO:2100157 Diabetes semapv:MappingInversion +MONDO:0005015 diabetes mellitus skos:closeMatch NANDO:2100158 Diabetes semapv:MappingInversion +MONDO:0005021 dilated cardiomyopathy skos:closeMatch NANDO:2100057 Dilated cardiomyopathy semapv:MappingInversion +MONDO:0005021 dilated cardiomyopathy skos:closeMatch NANDO:2200232 Dilated cardiomyopathy semapv:MappingInversion +MONDO:0005029 essential thrombocythemia skos:closeMatch NANDO:2100194 Essential thrombocythemia semapv:MappingInversion +MONDO:0005029 essential thrombocythemia skos:closeMatch NANDO:2200655 Essential thrombocythemia semapv:MappingInversion +MONDO:0005035 ganglioneuroblastoma skos:closeMatch NANDO:2200041 Ganglioneuroblastoma semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:1200286 Hypertrophic cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:1200288 Hypertrophic obstructive cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:2100054 Hypertrophic cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:2200229 Hypertrophic cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:2201042 Hypertrophic obstructive cardiomyopathy semapv:MappingInversion +MONDO:0005046 immune system disorder skos:closeMatch NANDO:1100004 Immune system disease semapv:MappingInversion +MONDO:0005046 immune system disorder skos:closeMatch NANDO:2100202 Immune system disease semapv:MappingInversion +MONDO:0005058 leiomyosarcoma skos:closeMatch NANDO:2200064 Leiomyosarcoma semapv:MappingInversion +MONDO:0005059 leukemia skos:closeMatch NANDO:2100002 Leukemia semapv:MappingInversion +MONDO:0005060 liposarcoma skos:closeMatch NANDO:2200065 Liposarcoma semapv:MappingInversion +MONDO:0005062 lymphoma skos:closeMatch NANDO:2100004 Lymphoma semapv:MappingInversion +MONDO:0005066 metabolic disease skos:closeMatch NANDO:1100002 Metabolic disease semapv:MappingInversion +MONDO:0005068 myocardial infarction skos:closeMatch NANDO:2200248 Myocardial infarction semapv:MappingInversion +MONDO:0005072 neuroblastoma skos:closeMatch NANDO:2200040 Neuroblastoma semapv:MappingInversion +MONDO:0005086 renal cell carcinoma skos:closeMatch NANDO:2200045 Renal cell carcinoma semapv:MappingInversion +MONDO:0005087 respiratory system disorder skos:closeMatch NANDO:1100010 Respiratory disease semapv:MappingInversion +MONDO:0005093 skin disorder skos:closeMatch NANDO:2100281 Skin disease semapv:MappingInversion +MONDO:0005100 systemic sclerosis skos:closeMatch NANDO:1200277 Systemic sclerosis semapv:MappingInversion +MONDO:0005100 systemic sclerosis skos:closeMatch NANDO:2200429 Systemic sclerosis semapv:MappingInversion +MONDO:0005101 ulcerative colitis skos:closeMatch NANDO:1200449 Ulcerative colitis semapv:MappingInversion +MONDO:0005101 ulcerative colitis skos:closeMatch NANDO:2200920 Ulcerative colitis semapv:MappingInversion +MONDO:0005102 undifferentiated (embryonal) sarcoma skos:closeMatch NANDO:2200058 Undifferentiated sarcoma semapv:MappingInversion +MONDO:0005105 melanoma skos:closeMatch NANDO:2200077 Malignant melanoma semapv:MappingInversion +MONDO:0005109 HIV infectious disease skos:closeMatch NANDO:2200810 HIV infection semapv:MappingInversion +MONDO:0005147 type 1 diabetes mellitus skos:closeMatch NANDO:2200460 Diabetes mellitus type 1 semapv:MappingInversion +MONDO:0005148 type 2 diabetes mellitus skos:closeMatch NANDO:2200461 Diabetes mellitus type 2 semapv:MappingInversion +MONDO:0005151 endocrine system disorder skos:closeMatch NANDO:1100009 Endocrine disease semapv:MappingInversion +MONDO:0005151 endocrine system disorder skos:closeMatch NANDO:2100109 Endocrine disease semapv:MappingInversion +MONDO:0005152 hypopituitarism skos:closeMatch NANDO:1200387 Hypopituitarism syndrome semapv:MappingInversion +MONDO:0005152 hypopituitarism skos:closeMatch NANDO:2100110 Hypopituitarism semapv:MappingInversion +MONDO:0005155 cirrhosis of liver skos:closeMatch NANDO:2100268 Liver cirrhosis semapv:MappingInversion +MONDO:0005155 cirrhosis of liver skos:closeMatch NANDO:2200937 Liver cirrhosis semapv:MappingInversion +MONDO:0005160 aortic aneurysm skos:closeMatch NANDO:2100101 Aortic aneurysm semapv:MappingInversion +MONDO:0005160 aortic aneurysm skos:closeMatch NANDO:2200294 Aortic aneurysm semapv:MappingInversion +MONDO:0005164 fibrosarcoma skos:closeMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion +MONDO:0005180 Parkinson disease skos:closeMatch NANDO:1200010 Parkinson's disease semapv:MappingInversion +MONDO:0005181 progressive external ophthalmoplegia skos:closeMatch NANDO:1200174 Chronic progressive external ophthalmoplegia semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch NANDO:1200292 Restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch NANDO:1200293 Idiopathic restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch NANDO:2100058 Restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch NANDO:2200233 Restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005204 primary antiphospholipid syndrome skos:closeMatch NANDO:1200267 Primary antiphospholipid antibody syndrome semapv:MappingInversion +MONDO:0005207 choriocarcinoma skos:closeMatch NANDO:2200070 Choriocarcinoma semapv:MappingInversion +MONDO:0005212 rhabdomyosarcoma skos:closeMatch NANDO:2200056 Rhabdomyosarcoma semapv:MappingInversion +MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:closeMatch NANDO:2200004 Acute myeloid leukemia with minimal differentiation semapv:MappingInversion +MONDO:0005224 acute myeloblastic leukemia without maturation skos:closeMatch NANDO:2200005 Acute myeloid leukemia without maturation semapv:MappingInversion +MONDO:0005265 inflammatory bowel disease skos:closeMatch NANDO:2100259 Inflammatory bowel disease semapv:MappingInversion +MONDO:0005300 chronic kidney disease skos:closeMatch NANDO:2100008 Chronic kidney disease semapv:MappingInversion +MONDO:0005300 chronic kidney disease skos:closeMatch NANDO:2100023 Chronic renal failure semapv:MappingInversion +MONDO:0005301 multiple sclerosis skos:closeMatch NANDO:1200023 Multiple sclerosis semapv:MappingInversion +MONDO:0005301 multiple sclerosis skos:closeMatch NANDO:2100250 Multiple sclerosis semapv:MappingInversion +MONDO:0005301 multiple sclerosis skos:closeMatch NANDO:2200904 Multiple sclerosis semapv:MappingInversion +MONDO:0005306 ankylosing spondylitis skos:closeMatch NANDO:1200870 Ankylosing spondylitis semapv:MappingInversion +MONDO:0005310 atrial flutter skos:closeMatch NANDO:2100050 Atrial flutter semapv:MappingInversion +MONDO:0005310 atrial flutter skos:closeMatch NANDO:2200218 Multiple atrial tachycardia semapv:MappingInversion +MONDO:0005310 atrial flutter skos:closeMatch NANDO:2200225 Atrial flutter semapv:MappingInversion +MONDO:0005314 relapsing-remitting multiple sclerosis skos:closeMatch NANDO:1200024 Relapsing-remitting multiple sclerosis semapv:MappingInversion +MONDO:0005314 relapsing-remitting multiple sclerosis skos:closeMatch NANDO:2201319 Relapsing-remitting multiple sclerosis semapv:MappingInversion +MONDO:0005342 IgA glomerulonephritis skos:closeMatch NANDO:1200366 IgA nephropathy semapv:MappingInversion +MONDO:0005342 IgA glomerulonephritis skos:closeMatch NANDO:2200121 IgA nephropathy semapv:MappingInversion +MONDO:0005361 eosinophilic esophagitis skos:closeMatch NANDO:1200456 Eosinophilic esophagitis semapv:MappingInversion +MONDO:0005363 inherited focal segmental glomerulosclerosis skos:closeMatch NANDO:1200722 Focal segmental glomerulosclerosis semapv:MappingInversion +MONDO:0005363 inherited focal segmental glomerulosclerosis skos:closeMatch NANDO:2200113 Focal segmental glomerulosclerosis semapv:MappingInversion +MONDO:0005364 Graves disease skos:closeMatch NANDO:2200328 Basedow disease semapv:MappingInversion +MONDO:0005369 carcinoid tumor skos:closeMatch NANDO:2200396 Carcinoid syndrome semapv:MappingInversion +MONDO:0005376 membranous glomerulonephritis skos:closeMatch NANDO:1200721 Membranous nephropathy semapv:MappingInversion +MONDO:0005376 membranous glomerulonephritis skos:closeMatch NANDO:2200114 Membranous nephropathy semapv:MappingInversion +MONDO:0005377 nephrotic syndrome skos:closeMatch NANDO:2100009 Nephrotic syndrome semapv:MappingInversion +MONDO:0005381 bone disorder skos:closeMatch NANDO:2100291 Bone disease semapv:MappingInversion +MONDO:0005381 bone disorder skos:closeMatch NANDO:2100293 Bone disease semapv:MappingInversion +MONDO:0005385 vascular disorder skos:closeMatch NANDO:2100294 Vascular disease semapv:MappingInversion +MONDO:0005387 primary ovarian failure skos:closeMatch NANDO:2100139 Hypergonadotropic hypogonadism semapv:MappingInversion +MONDO:0005388 primary biliary cholangitis skos:closeMatch NANDO:1200439 Primary biliary cholangitis semapv:MappingInversion +MONDO:0005420 hypothyroidism skos:closeMatch NANDO:2100120 Hypothyroidism semapv:MappingInversion +MONDO:0005429 prion disease skos:closeMatch NANDO:1200186 Prion disease semapv:MappingInversion +MONDO:0005437 testicular dysgenesis syndrome skos:closeMatch NANDO:2200383 Testicular dysgenesis semapv:MappingInversion +MONDO:0005439 familial hypercholesterolemia skos:closeMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion +MONDO:0005440 embryonal carcinoma skos:closeMatch NANDO:2200067 Embryonal carcinoma semapv:MappingInversion +MONDO:0005477 ventricular tachycardia skos:closeMatch NANDO:2100049 Ventricular tachycardia semapv:MappingInversion +MONDO:0005479 atrial tachycardia skos:closeMatch NANDO:2200218 Multiple atrial tachycardia semapv:MappingInversion +MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch NANDO:2200049 Osteochondromatosis semapv:MappingInversion +MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch NANDO:2201014 Multiple cartilaginous exostosis semapv:MappingInversion +MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch NANDO:2201015 Enchondromatosis semapv:MappingInversion +MONDO:0005532 Crohn's colitis skos:closeMatch NANDO:1200446 Colonic Crohn's disease semapv:MappingInversion +MONDO:0005533 distal colitis skos:closeMatch NANDO:1200451 Left-sided colitis semapv:MappingInversion +MONDO:0005534 ileocolitis skos:closeMatch NANDO:1200447 Crohn ileocolitis semapv:MappingInversion +MONDO:0005536 pancolitis skos:closeMatch NANDO:1200450 Pan-ulcerative colitis semapv:MappingInversion +MONDO:0005539 small bowel Crohn disease skos:closeMatch NANDO:1200445 small bowel Crohn disease semapv:MappingInversion +MONDO:0005549 renal cell adenocarcinoma skos:closeMatch NANDO:2200045 Renal cell carcinoma semapv:MappingInversion +MONDO:0005554 rheumatic disorder skos:closeMatch NANDO:2100151 Collagen disease semapv:MappingInversion +MONDO:0005554 rheumatic disorder skos:closeMatch NANDO:2100152 Collagen disease semapv:MappingInversion +MONDO:0005556 lupus nephritis skos:closeMatch NANDO:2200128 Lupus nephritis semapv:MappingInversion +MONDO:0005570 hematologic disorder skos:closeMatch NANDO:1100006 Blood disease semapv:MappingInversion +MONDO:0005570 hematologic disorder skos:closeMatch NANDO:2100175 Blood disease semapv:MappingInversion +MONDO:0005624 atrophic thyroiditis skos:closeMatch NANDO:2200336 Atrophic thyroiditis semapv:MappingInversion +MONDO:0005648 aortic valve insufficiency skos:closeMatch NANDO:2200307 Aortic valve regurgitation semapv:MappingInversion +MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch NANDO:1200911 Congenital diaphragmatic hernia semapv:MappingInversion +MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch NANDO:2100040 Congenital diaphragmatic hernia semapv:MappingInversion +MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch NANDO:2200210 Congenital diaphragmatic hernia semapv:MappingInversion +MONDO:0005713 obsolete MONDO:0005713 skos:closeMatch NANDO:2200890 Congenital rubella syndrome semapv:MappingInversion +MONDO:0005715 congenital toxoplasmosis skos:closeMatch NANDO:2200892 Congenital toxoplasmosis semapv:MappingInversion +MONDO:0005744 yolk sac tumor skos:closeMatch NANDO:2200069 Yolk sac tumour semapv:MappingInversion +MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch NANDO:2200034 Follicular dendritic cell sarcoma semapv:MappingInversion +MONDO:0005775 G6PD deficiency skos:closeMatch NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency semapv:MappingInversion +MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch NANDO:2100143 Hyperinsulinemic hypoglycemia semapv:MappingInversion +MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch NANDO:2200399 Congenital hyperinsulinemia semapv:MappingInversion +MONDO:0005804 hyperprolactinemia skos:closeMatch NANDO:2100115 Hyperprolactinemia semapv:MappingInversion +MONDO:0005804 hyperprolactinemia skos:closeMatch NANDO:2200322 Hyperprolactinemia semapv:MappingInversion +MONDO:0005810 infectious mononucleosis skos:closeMatch NANDO:1200668 Pfeiffer syndrome semapv:MappingInversion +MONDO:0005810 infectious mononucleosis skos:closeMatch NANDO:2200976 Pfeiffer syndrome semapv:MappingInversion +MONDO:0005813 interdigitating dendritic cell sarcoma skos:closeMatch NANDO:2200035 Interdigitating dendritic cell sarcoma semapv:MappingInversion +MONDO:0005827 lipoatrophic diabetes skos:closeMatch NANDO:2200465 Lipoatrophic diabetes semapv:MappingInversion +MONDO:0005852 mitral valve stenosis skos:closeMatch NANDO:1200963 Congenital mitral stenosis semapv:MappingInversion +MONDO:0005852 mitral valve stenosis skos:closeMatch NANDO:2200302 Mitral valve stenosis semapv:MappingInversion +MONDO:0005854 mixed connective tissue disease skos:closeMatch NANDO:1200278 Mixed connective tissue disease semapv:MappingInversion +MONDO:0005854 mixed connective tissue disease skos:closeMatch NANDO:2200430 Mixed connective tissue disease semapv:MappingInversion +MONDO:0005965 spinal stenosis skos:closeMatch NANDO:1200372 Coexisting cervical and lumbar spinal stenosis semapv:MappingInversion +MONDO:0005997 tricuspid valve stenosis skos:closeMatch NANDO:2200300 Tricuspid valve stenosis semapv:MappingInversion +MONDO:0006007 vesicoureteral reflux skos:closeMatch NANDO:2200179 Vesicoureteral reflux semapv:MappingInversion +MONDO:0006055 sex cord-stromal tumor skos:closeMatch NANDO:2200072 Sex-cord stromal tumour semapv:MappingInversion +MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch NANDO:1200385 Growth hormone secreting pituitary adenoma semapv:MappingInversion +MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone semapv:MappingInversion +MONDO:0006287 malignancy in giant cell tumor of bone skos:closeMatch NANDO:2200052 Malignancy in giant cell tumour of bone semapv:MappingInversion +MONDO:0006373 pituitary gland adenoma skos:closeMatch NANDO:2200095 Pituitary adenoma semapv:MappingInversion +MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:closeMatch NANDO:2200039 Rosai-Dorfman disease semapv:MappingInversion +MONDO:0006444 teratoma with malignant transformation skos:closeMatch NANDO:2200107 Teratoma with malignant transformation semapv:MappingInversion +MONDO:0006451 thymic carcinoma skos:closeMatch NANDO:2200079 Malignant thymoma semapv:MappingInversion +MONDO:0006536 congenital generalized lipodystrophy skos:closeMatch NANDO:1200859 Generalized congenital lipodystrophy semapv:MappingInversion +MONDO:0006541 epidermolysis bullosa skos:closeMatch NANDO:1200234 Epidermolysis bullosa semapv:MappingInversion +MONDO:0006541 epidermolysis bullosa skos:closeMatch NANDO:2100284 Epidermolysis bullosa semapv:MappingInversion +MONDO:0006541 epidermolysis bullosa skos:closeMatch NANDO:2201000 Epidermolysis bullosa semapv:MappingInversion +MONDO:0006573 lipodystrophy skos:closeMatch NANDO:1200858 Lipodystrophy semapv:MappingInversion +MONDO:0006573 lipodystrophy skos:closeMatch NANDO:2100147 Lipodystrophy semapv:MappingInversion +MONDO:0006573 lipodystrophy skos:closeMatch NANDO:2200404 Lipodystrophy semapv:MappingInversion +MONDO:0006594 pemphigus skos:closeMatch NANDO:1200228 Pemphigus semapv:MappingInversion +MONDO:0006639 adrenal cortex carcinoma skos:closeMatch NANDO:2200073 Adrenocortical carcinoma semapv:MappingInversion +MONDO:0006656 aortitis skos:closeMatch NANDO:1200251 Takayasu arteritis semapv:MappingInversion +MONDO:0006656 aortitis skos:closeMatch NANDO:2200423 Takayasu arteritis semapv:MappingInversion +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome skos:closeMatch NANDO:2100130 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome skos:closeMatch NANDO:2200362 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0006664 atrial septal defect skos:closeMatch NANDO:2100085 Atrial septal defect semapv:MappingInversion +MONDO:0006689 obsolete carcinoid syndrome skos:closeMatch NANDO:2200396 Carcinoid syndrome semapv:MappingInversion +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0006711 constrictive pericarditis skos:closeMatch NANDO:2100064 Constrictive pericarditis semapv:MappingInversion +MONDO:0006711 constrictive pericarditis skos:closeMatch NANDO:2200239 Constrictive pericarditis semapv:MappingInversion +MONDO:0006715 coronary stenosis skos:closeMatch NANDO:2200246 Stenosis or atresia of coronary artery semapv:MappingInversion +MONDO:0006779 heart aneurysm skos:closeMatch NANDO:2200234 Aneurysm of ventricle semapv:MappingInversion +MONDO:0006785 obsolete Henoch-Schoenlein purpura skos:closeMatch NANDO:1200741 Henoch-Schonlein purpura nephritis semapv:MappingInversion +MONDO:0006795 hypersplenism skos:closeMatch NANDO:2200637 Hypersplenism semapv:MappingInversion +MONDO:0006802 inappropriate ADH syndrome skos:closeMatch NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion +MONDO:0006802 inappropriate ADH syndrome skos:closeMatch NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion +MONDO:0006802 inappropriate ADH syndrome skos:closeMatch NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion +MONDO:0006823 Klinefelter syndrome skos:closeMatch NANDO:2200386 Klinefelter syndrome semapv:MappingInversion +MONDO:0006835 lipoid nephrosis skos:closeMatch NANDO:1200720 Minimal change nephrotic syndrome semapv:MappingInversion +MONDO:0006835 lipoid nephrosis skos:closeMatch NANDO:2200112 Minimal change nephrotic syndrome semapv:MappingInversion +MONDO:0006935 pulmonary subvalvular stenosis skos:closeMatch NANDO:2100092 Subvalvular pulmonary stenosis semapv:MappingInversion +MONDO:0006935 pulmonary subvalvular stenosis skos:closeMatch NANDO:2200276 Subvalvular pulmonary stenosis semapv:MappingInversion +MONDO:0006936 pulmonary valve stenosis skos:closeMatch NANDO:2200304 Pulmonary valve stenosis semapv:MappingInversion +MONDO:0006947 renovascular hypertension skos:closeMatch NANDO:2100016 Renovascular hypertension semapv:MappingInversion +MONDO:0006947 renovascular hypertension skos:closeMatch NANDO:2200141 Renovascular hypertension semapv:MappingInversion +MONDO:0006987 subvalvular aortic stenosis skos:closeMatch NANDO:2100093 Subvalvular aortic stenosis semapv:MappingInversion +MONDO:0006987 subvalvular aortic stenosis skos:closeMatch NANDO:2200277 Subvalvular aortic stenosis semapv:MappingInversion +MONDO:0007012 variant Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200194 Variant Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch NANDO:1200675 Branchio-oto-renal syndrome semapv:MappingInversion +MONDO:0007032 prune belly syndrome skos:closeMatch NANDO:2200185 Prune belly syndrome semapv:MappingInversion +MONDO:0007037 Achondroplasia skos:closeMatch NANDO:1200877 Achondroplasia semapv:MappingInversion +MONDO:0007037 Achondroplasia skos:closeMatch NANDO:2201009 Achondroplasia semapv:MappingInversion +MONDO:0007039 neurofibromatosis type 2 skos:closeMatch NANDO:1200227 Neurofibromatosis type 2 semapv:MappingInversion +MONDO:0007041 Apert syndrome skos:closeMatch NANDO:1200667 Apert syndrome semapv:MappingInversion +MONDO:0007041 Apert syndrome skos:closeMatch NANDO:2200844 Apert syndrome semapv:MappingInversion +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch NANDO:2200848 Saethre-Chotzen syndrome semapv:MappingInversion +MONDO:0007043 Pfeiffer syndrome skos:closeMatch NANDO:1200668 Pfeiffer syndrome semapv:MappingInversion +MONDO:0007043 Pfeiffer syndrome skos:closeMatch NANDO:2200976 Pfeiffer syndrome semapv:MappingInversion +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch NANDO:1200323 Adenosine deaminase deficiency semapv:MappingInversion +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch NANDO:2200696 Adenosine deaminase deficiency semapv:MappingInversion +MONDO:0007078 Pseudohypoparathyroidism type 1A skos:closeMatch NANDO:1201075 Pseudohypoparathyroidism type 1A semapv:MappingInversion +MONDO:0007097 Finnish type amyloidosis skos:closeMatch NANDO:1201063 Familial amyloid polyneuropathy type 4 semapv:MappingInversion +MONDO:0007099 familial visceral amyloidosis skos:closeMatch NANDO:2200138 Amyloid nephropathy semapv:MappingInversion +MONDO:0007100 familial amyloid neuropathy skos:closeMatch NANDO:1200214 Familial amyloid polyneuropathy semapv:MappingInversion +MONDO:0007100 familial amyloid neuropathy skos:closeMatch NANDO:1201060 Familial amyloid polyneuropathy type 1 semapv:MappingInversion +MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch NANDO:1200888 Congenital dyserythropoietic anemia type III semapv:MappingInversion +MONDO:0007113 Angelman syndrome skos:closeMatch NANDO:1200686 Angelman syndrome semapv:MappingInversion +MONDO:0007113 Angelman syndrome skos:closeMatch NANDO:2200960 Angelman syndrome semapv:MappingInversion +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch NANDO:2200271 Total anomalous pulmonary venous connection semapv:MappingInversion +MONDO:0007140 obsolete antiphospholipid syndrome skos:closeMatch NANDO:1200271 Antiphospholipid antibody-related disease semapv:MappingInversion +MONDO:0007140 obsolete antiphospholipid syndrome skos:closeMatch NANDO:2200421 Anti-phospholipid antibody syndrome semapv:MappingInversion +MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch NANDO:2100229 Cerebral arteriovenous malformation semapv:MappingInversion +MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch NANDO:2200851 Cerebral arteriovenous malformation semapv:MappingInversion +MONDO:0007160 Stickler syndrome type 1 skos:closeMatch NANDO:2201354 Stickler syndrome type 1 semapv:MappingInversion +MONDO:0007182 Machado-Joseph disease skos:closeMatch NANDO:1200041 Spinocerebellar ataxia type 3 semapv:MappingInversion +MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch NANDO:2200828 Gorlin syndrome semapv:MappingInversion +MONDO:0007191 Behcet disease skos:closeMatch NANDO:1200284 Behcet's disease semapv:MappingInversion +MONDO:0007191 Behcet disease skos:closeMatch NANDO:2200422 Behcet's disease semapv:MappingInversion +MONDO:0007203 blue rubber bleb nevus skos:closeMatch NANDO:2201027 Blue rubber bleb nevus syndrome semapv:MappingInversion +MONDO:0007256 hepatocellular carcinoma skos:closeMatch NANDO:2200047 Hepatocellular carcinoma semapv:MappingInversion +MONDO:0007294 central core myopathy skos:closeMatch NANDO:1200479 Central core disease semapv:MappingInversion +MONDO:0007294 central core myopathy skos:closeMatch NANDO:2200870 Central core disease semapv:MappingInversion +MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch NANDO:1200044 Spinocerebellar ataxia type 31 semapv:MappingInversion +MONDO:0007315 cherubism skos:closeMatch NANDO:2200444 Cherubism semapv:MappingInversion +MONDO:0007318 Alagille syndrome skos:closeMatch NANDO:1200918 Alagille syndrome semapv:MappingInversion +MONDO:0007318 Alagille syndrome skos:closeMatch NANDO:1200919 Typical Alagille syndrome semapv:MappingInversion +MONDO:0007318 Alagille syndrome skos:closeMatch NANDO:2200931 Alagille syndrome semapv:MappingInversion +MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type semapv:MappingInversion +MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch NANDO:1200519 Dystonia 8 semapv:MappingInversion +MONDO:0007345 aorta coarctation skos:closeMatch NANDO:2200283 Coarctation of the aorta semapv:MappingInversion +MONDO:0007345 aorta coarctation skos:closeMatch NANDO:2200284 Coarctation complex semapv:MappingInversion +MONDO:0007361 C1 inhibitor deficiency skos:closeMatch NANDO:1200365 Hereditary angioedema semapv:MappingInversion +MONDO:0007361 C1 inhibitor deficiency skos:closeMatch NANDO:2200795 Hereditary angioedema semapv:MappingInversion +MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch NANDO:2201026 Beals syndrome semapv:MappingInversion +MONDO:0007369 hereditary coproporphyria skos:closeMatch NANDO:1200813 Hereditary coproporphyria semapv:MappingInversion +MONDO:0007369 hereditary coproporphyria skos:closeMatch NANDO:2201264 Hereditary coproporphyria semapv:MappingInversion +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200189 Familial Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch NANDO:1200684 5p deletion syndrome semapv:MappingInversion +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch NANDO:2200961 5p- syndrome semapv:MappingInversion +MONDO:0007405 Crouzon syndrome skos:closeMatch NANDO:1200666 Crouzon's syndrome semapv:MappingInversion +MONDO:0007405 Crouzon syndrome skos:closeMatch NANDO:2200845 Crouzon disease semapv:MappingInversion +MONDO:0007414 Gorham-Stout disease skos:closeMatch NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease semapv:MappingInversion +MONDO:0007414 Gorham-Stout disease skos:closeMatch NANDO:1200880 obsolete Gorham disease semapv:MappingInversion +MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:closeMatch NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy semapv:MappingInversion +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch NANDO:1200043 Dentatorubropallidoluysian atrophy semapv:MappingInversion +MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch NANDO:2201050 Familial central diabetes insipidus semapv:MappingInversion +MONDO:0007452 maturity-onset diabetes of the young type 1 skos:closeMatch NANDO:2200461 Diabetes mellitus type 2 semapv:MappingInversion +MONDO:0007452 maturity-onset diabetes of the young type 1 skos:closeMatch NANDO:2201069 Maturity-onset diabetes of the young type 1 semapv:MappingInversion +MONDO:0007453 maturity-onset diabetes of the young type 2 skos:closeMatch NANDO:2201070 Maturity-onset diabetes of the young type 2 semapv:MappingInversion +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NANDO:1200512 Dystonia 1 semapv:MappingInversion +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NANDO:2100240 Dystonia musculorum deformans semapv:MappingInversion +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NANDO:2200884 Dystonia musculorum deformans semapv:MappingInversion +MONDO:0007493 torsion dystonia 4 skos:closeMatch NANDO:1200515 Dystonia 4 semapv:MappingInversion +MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 skos:closeMatch NANDO:1200521 Dystonia 10 semapv:MappingInversion +MONDO:0007495 dystonia 5 skos:closeMatch NANDO:1200516 Dystonia 5 semapv:MappingInversion +MONDO:0007496 dystonia 12 skos:closeMatch NANDO:1200523 Dystonia 12 semapv:MappingInversion +MONDO:0007496 dystonia 12 skos:closeMatch NANDO:1200524 Rapid-onset dystonia-parkinsonism semapv:MappingInversion +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NANDO:1200646 Ehlers-Danlos syndrome, classical type semapv:MappingInversion +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NANDO:2201256 Ehlers-Danlos syndrome, classical type semapv:MappingInversion +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type semapv:MappingInversion +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type semapv:MappingInversion +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingInversion +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingInversion +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch NANDO:2200959 Beckwith-Wiedemann syndrome semapv:MappingInversion +MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch NANDO:2200405 Multiple endocrine neoplasia type 1 semapv:MappingInversion +MONDO:0007542 Camurati-Engelmann disease skos:closeMatch NANDO:2200970 Camurati-Engelmann disease semapv:MappingInversion +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch NANDO:1200871 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch NANDO:2201020 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome semapv:MappingInversion +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch NANDO:2201073 Maturity-onset diabetes of the young type 5 semapv:MappingInversion +MONDO:0007671 fibronectin glomerulopathy skos:closeMatch NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy semapv:MappingInversion +MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0007699 Hashimoto thyroiditis skos:closeMatch NANDO:2200335 Hashimoto disease semapv:MappingInversion +MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch NANDO:2100297 Kasabach-Merritt syndrome semapv:MappingInversion +MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch NANDO:2201035 Kasabach-Merritt syndrome semapv:MappingInversion +MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch NANDO:1200472 TNF receptor-associated periodic fever syndrome semapv:MappingInversion +MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch NANDO:2200433 TNF receptor-associated periodic fever syndrome semapv:MappingInversion +MONDO:0007739 Huntington disease skos:closeMatch NANDO:1200012 Huntington's disease semapv:MappingInversion +MONDO:0007741 congenital hydronephrosis skos:closeMatch NANDO:2200176 Ureteropelvic junction obstruction semapv:MappingInversion +MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion +MONDO:0007793 hypochondroplasia skos:closeMatch NANDO:2201010 Hypochondroplasia semapv:MappingInversion +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch NANDO:1200382 Idiopathic hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0007803 multiple system atrophy skos:closeMatch NANDO:1200034 Multiple system atrophy semapv:MappingInversion +MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch NANDO:1200613 Superficial epidermolytic ichthyosis semapv:MappingInversion +MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch NANDO:2200990 Superficial epidermolytic ichthyosis semapv:MappingInversion +MONDO:0007827 inclusion body myositis skos:closeMatch NANDO:1200032 Sporadic inclusion body myositis semapv:MappingInversion +MONDO:0007827 inclusion body myositis skos:closeMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch NANDO:1200884 Klippel-Trenaunay-Weber syndrome semapv:MappingInversion +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch NANDO:2201030 Klippel-Trenaunay-Weber syndrome semapv:MappingInversion +MONDO:0007875 Larsen syndrome skos:closeMatch NANDO:2201019 Larsen syndrome semapv:MappingInversion +MONDO:0007879 larynx atresia skos:closeMatch NANDO:2200190 Laryngeal stenosis semapv:MappingInversion +MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch NANDO:2201347 Platyspondylic dysplasia, Torrance type semapv:MappingInversion +MONDO:0007896 acute monocytic leukemia skos:closeMatch NANDO:2200008 Acute monocytic leukemia semapv:MappingInversion +MONDO:0007896 acute monocytic leukemia skos:closeMatch NANDO:2200009 Acute monocytic leukemia semapv:MappingInversion +MONDO:0007915 systemic lupus erythematosus skos:closeMatch NANDO:1200272 Systemic lupus erythematosus semapv:MappingInversion +MONDO:0007915 systemic lupus erythematosus skos:closeMatch NANDO:2200416 Systemic lupus erythematosus semapv:MappingInversion +MONDO:0007947 Marfan syndrome skos:closeMatch NANDO:1200644 Marfan syndrome semapv:MappingInversion +MONDO:0007947 Marfan syndrome skos:closeMatch NANDO:2200968 Marfan syndrome semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:closeMatch NANDO:1200893 Epstein syndrome semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:closeMatch NANDO:2100193 May-Hegglin anomaly semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:closeMatch NANDO:2200127 Epstein syndrome semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:closeMatch NANDO:2200654 May-Hegglin anomaly semapv:MappingInversion +MONDO:0007959 medulloblastoma skos:closeMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome skos:closeMatch NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingInversion +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome skos:closeMatch NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingInversion +MONDO:0007970 melorheostosis skos:closeMatch NANDO:2201364 Melorheostosis semapv:MappingInversion +MONDO:0007987 Kniest dysplasia skos:closeMatch NANDO:2201350 Kniest dysplasia semapv:MappingInversion +MONDO:0008006 Mobius syndrome skos:closeMatch NANDO:1200559 Moebius syndrome semapv:MappingInversion +MONDO:0008006 Mobius syndrome skos:closeMatch NANDO:2200980 Moebius syndrome semapv:MappingInversion +MONDO:0008029 Bethlem myopathy skos:closeMatch NANDO:1200220 Bethlem Myopathy semapv:MappingInversion +MONDO:0008039 tropical spastic paraparesis skos:closeMatch NANDO:1200206 HTLV-1-associated myelopathy semapv:MappingInversion +MONDO:0008054 juvenile dermatomyositis skos:closeMatch NANDO:2200418 Juvenile dermatomyositis semapv:MappingInversion +MONDO:0008061 nail-patella syndrome skos:closeMatch NANDO:1200967 Nail-patella syndrome semapv:MappingInversion +MONDO:0008061 nail-patella syndrome skos:closeMatch NANDO:2200132 Nail-patella syndrome semapv:MappingInversion +MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch NANDO:2201053 Multiple endocrine neoplasia type 2B semapv:MappingInversion +MONDO:0008090 cyclic hematopoiesis skos:closeMatch NANDO:1200354 Cyclic neutropenia semapv:MappingInversion +MONDO:0008090 cyclic hematopoiesis skos:closeMatch NANDO:2200746 Cyclic neutropenia semapv:MappingInversion +MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch NANDO:1200493 Oculopharyngeal muscular dystrophy semapv:MappingInversion +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch NANDO:1200045 Spinocerebellar ataxia type 1 semapv:MappingInversion +MONDO:0008120 obsolete spinocerebellar ataxia type 7 skos:closeMatch NANDO:1200047 Spinocerebellar ataxia type 7 semapv:MappingInversion +MONDO:0008145 Ollier disease skos:closeMatch NANDO:2200049 Osteochondromatosis semapv:MappingInversion +MONDO:0008145 Ollier disease skos:closeMatch NANDO:2201015 Enchondromatosis semapv:MappingInversion +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch NANDO:1200921 Hereditary pancreatitis semapv:MappingInversion +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch NANDO:2200942 Hereditary pancreatitis semapv:MappingInversion +MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch NANDO:1200501 Paramyotonia congenita semapv:MappingInversion +MONDO:0008201 Perry syndrome skos:closeMatch NANDO:1200547 Perry syndrome semapv:MappingInversion +MONDO:0008218 Hailey-Hailey disease skos:closeMatch NANDO:1200631 Benign familial pemphigus semapv:MappingInversion +MONDO:0008219 pemphigus vulgaris skos:closeMatch NANDO:1200229 Pemphigus vulgaris semapv:MappingInversion +MONDO:0008221 prolidase deficiency skos:closeMatch NANDO:2200472 Prolidase deficiency semapv:MappingInversion +MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch NANDO:1200827 Glycogen storage diseases type IV semapv:MappingInversion +MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch NANDO:1200503 Hereditary hypokalemic periodic paralysis semapv:MappingInversion +MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch NANDO:1200504 Hereditary hyperkalemic periodic paralysis semapv:MappingInversion +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch NANDO:2200406 Multiple endocrine neoplasia type 2 semapv:MappingInversion +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch NANDO:2201052 Multiple endocrine neoplasia type 2A semapv:MappingInversion +MONDO:0008260 Kindler syndrome skos:closeMatch NANDO:1200239 Kindler syndrome semapv:MappingInversion +MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch NANDO:2200917 Peutz-Jeghers syndrome semapv:MappingInversion +MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch NANDO:1200901 Cronkhite-Canada syndrome semapv:MappingInversion +MONDO:0008294 acute intermittent porphyria skos:closeMatch NANDO:1200812 Acute intermittent porphyria semapv:MappingInversion +MONDO:0008294 acute intermittent porphyria skos:closeMatch NANDO:2201263 Acute intermittent porphyria semapv:MappingInversion +MONDO:0008297 variegate porphyria skos:closeMatch NANDO:1200814 Variegate porphyria semapv:MappingInversion +MONDO:0008297 variegate porphyria skos:closeMatch NANDO:2201265 Variegate porphyria semapv:MappingInversion +MONDO:0008300 Prader-Willi syndrome skos:closeMatch NANDO:1200678 Prader-Willi syndrome semapv:MappingInversion +MONDO:0008300 Prader-Willi syndrome skos:closeMatch NANDO:2200411 Prader-Willi syndrome semapv:MappingInversion +MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch NANDO:1201007 Hutchinson-Gilford syndrome semapv:MappingInversion +MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch NANDO:2200833 Hutchinson-Gilford syndrome semapv:MappingInversion +MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch NANDO:2201266 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0008322 pseudoachondroplasia skos:closeMatch NANDO:2201018 Pseudoachondroplasia semapv:MappingInversion +MONDO:0008323 Liddle syndrome skos:closeMatch NANDO:2100131 Liddle syndrome semapv:MappingInversion +MONDO:0008323 Liddle syndrome skos:closeMatch NANDO:2200363 Liddle syndrome semapv:MappingInversion +MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch NANDO:2200668 Platelet-type von Willebrand disease semapv:MappingInversion +MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch NANDO:1200708 Pulmonary atresia with ventricular septal defect semapv:MappingInversion +MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch NANDO:2200252 Pulmonary atresia with ventricular septal defect semapv:MappingInversion +MONDO:0008345 obsolete idiopathic pulmonary fibrosis skos:closeMatch NANDO:1200417 Idiopathic pulmonary fibrosis semapv:MappingInversion +MONDO:0008346 pulmonary hemosiderosis skos:closeMatch NANDO:1200751 Alveolar hypoventilation syndrome semapv:MappingInversion +MONDO:0008346 pulmonary hemosiderosis skos:closeMatch NANDO:2100037 Idiopathic pulmonary hemosiderosis semapv:MappingInversion +MONDO:0008346 pulmonary hemosiderosis skos:closeMatch NANDO:2200207 Idiopathic pulmonary hemosiderosis semapv:MappingInversion +MONDO:0008367 red cell phospholipid defect with hemolysis skos:closeMatch NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia semapv:MappingInversion +MONDO:0008380 retinoblastoma skos:closeMatch NANDO:2200042 Retinoblastoma semapv:MappingInversion +MONDO:0008428 septooptic dysplasia skos:closeMatch NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome semapv:MappingInversion +MONDO:0008428 septooptic dysplasia skos:closeMatch NANDO:1200561 Septo-optic dysplasia semapv:MappingInversion +MONDO:0008428 septooptic dysplasia skos:closeMatch NANDO:2200820 Septo-optic dysplasia semapv:MappingInversion +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch NANDO:1200687 Smith-Magenis syndrome semapv:MappingInversion +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch NANDO:2200954 Smith-Magenis syndrome semapv:MappingInversion +MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch NANDO:1200042 Spinocerebellar ataxia type 6 semapv:MappingInversion +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch NANDO:1200046 Spinocerebellar ataxia type 2 semapv:MappingInversion +MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch NANDO:2201348 Spondyloepiphyseal dysplasia congenita semapv:MappingInversion +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type semapv:MappingInversion +MONDO:0008487 polycystic ovary syndrome skos:closeMatch NANDO:2100149 Polycystic ovary syndrome semapv:MappingInversion +MONDO:0008487 polycystic ovary syndrome skos:closeMatch NANDO:2200409 Polycystic ovary syndrome semapv:MappingInversion +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch NANDO:1200606 Sturge-Weber syndrome semapv:MappingInversion +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch NANDO:2200830 Sturge-Weber syndrome semapv:MappingInversion +MONDO:0008503 Worster-Drought syndrome skos:closeMatch NANDO:1200558 Congenital suprabulbar paresis semapv:MappingInversion +MONDO:0008504 supravalvular aortic stenosis skos:closeMatch NANDO:2200285 Supravalvular aortic stenosis semapv:MappingInversion +MONDO:0008523 Blau syndrome skos:closeMatch NANDO:1200476 Blau syndrome semapv:MappingInversion +MONDO:0008523 Blau syndrome skos:closeMatch NANDO:2200434 Blau syndrome, early onset sarcoidosis semapv:MappingInversion +MONDO:0008538 temporal arteritis skos:closeMatch NANDO:1200258 Giant cell arteritis semapv:MappingInversion +MONDO:0008538 temporal arteritis skos:closeMatch NANDO:1200259 Cranial giant cell arteritis semapv:MappingInversion +MONDO:0008538 temporal arteritis skos:closeMatch NANDO:1200260 Large-vessel giant cell arteritis semapv:MappingInversion +MONDO:0008542 tetralogy of fallot skos:closeMatch NANDO:1200709 Tetralogy of Fallot semapv:MappingInversion +MONDO:0008542 tetralogy of fallot skos:closeMatch NANDO:2100075 Tetralogy of Fallot semapv:MappingInversion +MONDO:0008542 tetralogy of fallot skos:closeMatch NANDO:2200254 Tetralogy of Fallot semapv:MappingInversion +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch NANDO:1200875 Thanatophoric dysplasia type 1 semapv:MappingInversion +MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch NANDO:1200876 Thanatophoric dysplasia type 2 semapv:MappingInversion +MONDO:0008555 thrombocytopenia 2 skos:closeMatch NANDO:2200663 Autosomal dominant thrombocytopenia 2 semapv:MappingInversion +MONDO:0008556 thrombocytopenia, cyclic skos:closeMatch NANDO:2100192 Cyclic thrombocytopenia semapv:MappingInversion +MONDO:0008556 thrombocytopenia, cyclic skos:closeMatch NANDO:2200653 Cyclic thrombocytopenia semapv:MappingInversion +MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch NANDO:1200315 Idiopathic thrombocytopenic purpura semapv:MappingInversion +MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch NANDO:2200645 Immune thrombocytopenic purpura semapv:MappingInversion +MONDO:0008564 DiGeorge syndrome skos:closeMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion +MONDO:0008564 DiGeorge syndrome skos:closeMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion +MONDO:0008564 DiGeorge syndrome skos:closeMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion +MONDO:0008608 Down syndrome skos:closeMatch NANDO:2200965 Down syndrome semapv:MappingInversion +MONDO:0008628 ureterocele skos:closeMatch NANDO:2200183 Ureteroceles semapv:MappingInversion +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch NANDO:1200467 Muckle-Wells syndrome semapv:MappingInversion +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch NANDO:2201067 Muckle-Wells syndrome semapv:MappingInversion +MONDO:0008642 VACTERL/vater association skos:closeMatch NANDO:1200657 VATER syndrome semapv:MappingInversion +MONDO:0008642 VACTERL/vater association skos:closeMatch NANDO:2200983 VATER syndrome semapv:MappingInversion +MONDO:0008644 velocardiofacial syndrome skos:closeMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion +MONDO:0008644 velocardiofacial syndrome skos:closeMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion +MONDO:0008644 velocardiofacial syndrome skos:closeMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion +MONDO:0008667 von Hippel-Lindau disease skos:closeMatch NANDO:2200408 Von Hippel-Lindau disease semapv:MappingInversion +MONDO:0008667 von Hippel-Lindau disease skos:closeMatch NANDO:2200829 von Hippel-Lindau disease semapv:MappingInversion +MONDO:0008674 obsolete WHIM syndrome skos:closeMatch NANDO:2200767 WHIM syndrome semapv:MappingInversion +MONDO:0008678 Williams syndrome skos:closeMatch NANDO:1200664 Williams syndrome semapv:MappingInversion +MONDO:0008678 Williams syndrome skos:closeMatch NANDO:2200286 Williams syndrome semapv:MappingInversion +MONDO:0008682 Denys-Drash syndrome skos:closeMatch NANDO:2200116 Denys-Drash syndrome semapv:MappingInversion +MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch NANDO:1200683 4p deletion syndrome semapv:MappingInversion +MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch NANDO:2200962 4p- Syndrome semapv:MappingInversion +MONDO:0008685 Wolff-Parkinson-White syndrome skos:closeMatch NANDO:2200217 Supraventricular tachycardia due to WPW syndrome semapv:MappingInversion +MONDO:0008692 abetalipoproteinemia skos:closeMatch NANDO:1200857 Abetalipoproteinemia semapv:MappingInversion +MONDO:0008692 abetalipoproteinemia skos:closeMatch NANDO:2200604 Abetalipoproteinemia semapv:MappingInversion +MONDO:0008695 chorea-acanthocytosis skos:closeMatch NANDO:1200014 Chorea-acanthocytosis semapv:MappingInversion +MONDO:0008702 achondrogenesis type II skos:closeMatch NANDO:2201345 Achondrogenesis type 2 semapv:MappingInversion +MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch NANDO:2201345 Achondrogenesis type 2 semapv:MappingInversion +MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch NANDO:2201346 Hypochondrogenesis semapv:MappingInversion +MONDO:0008713 acrodermatitis enteropathica skos:closeMatch NANDO:2200584 Acrodermatitis enteropathica semapv:MappingInversion +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency semapv:MappingInversion +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency semapv:MappingInversion +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch NANDO:1200399 21-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch NANDO:2200374 21-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch NANDO:1200400 11-β-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch NANDO:2200372 11-β-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch NANDO:1200401 17-α-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch NANDO:2200373 17 alpha-hydroxylase deficiency semapv:MappingInversion +MONDO:0008737 congenital afibrinogenemia skos:closeMatch NANDO:2200672 Afibrinogenemia semapv:MappingInversion +MONDO:0008738 aganglionosis, total intestinal skos:closeMatch NANDO:1200460 Congenital isolated hypoganglionosis semapv:MappingInversion +MONDO:0008738 aganglionosis, total intestinal skos:closeMatch NANDO:2200948 Congenital Isolated Hypoganglionosis semapv:MappingInversion +MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch NANDO:1201078 Pseudohypoparathyroidism type 2 semapv:MappingInversion +MONDO:0008752 Alexander disease skos:closeMatch NANDO:1200554 Alexander disease semapv:MappingInversion +MONDO:0008752 Alexander disease skos:closeMatch NANDO:2200835 Alexander disease semapv:MappingInversion +MONDO:0008753 alkaptonuria skos:closeMatch NANDO:2200504 Alkaptonuria semapv:MappingInversion +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch NANDO:1200987 Beta-ketothiolase deficiency semapv:MappingInversion +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch NANDO:2200493 Beta-ketothiolase deficiency semapv:MappingInversion +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch NANDO:1201006 Gelatinous drop-like corneal dystrophy semapv:MappingInversion +MONDO:0008783 Tangier disease skos:closeMatch NANDO:1200854 Tangier disease semapv:MappingInversion +MONDO:0008803 Antley-Bixler syndrome skos:closeMatch NANDO:1200669 Antley-Bixler syndrome semapv:MappingInversion +MONDO:0008803 Antley-Bixler syndrome skos:closeMatch NANDO:2200975 Antley-Bixler syndrome semapv:MappingInversion +MONDO:0008814 hyperargininemia skos:closeMatch NANDO:1200807 Argininemia semapv:MappingInversion +MONDO:0008814 hyperargininemia skos:closeMatch NANDO:2200482 Hyperargininemia semapv:MappingInversion +MONDO:0008815 argininosuccinic aciduria skos:closeMatch NANDO:1200806 Argininosuccinic aciduria semapv:MappingInversion +MONDO:0008815 argininosuccinic aciduria skos:closeMatch NANDO:2200481 Argininosuccinic aciduria semapv:MappingInversion +MONDO:0008830 aspartylglucosaminuria skos:closeMatch NANDO:1200133 Aspartylglucosaminuria semapv:MappingInversion +MONDO:0008830 aspartylglucosaminuria skos:closeMatch NANDO:2200555 Aspartylglucosaminuria semapv:MappingInversion +MONDO:0008840 ataxia telangiectasia skos:closeMatch NANDO:1200331 Ataxia telangiectasia semapv:MappingInversion +MONDO:0008840 ataxia telangiectasia skos:closeMatch NANDO:2200705 Ataxia telangiectasia semapv:MappingInversion +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch NANDO:1200051 Ataxia-oculomotor apraxia type 1 semapv:MappingInversion +MONDO:0008846 atransferrinemia skos:closeMatch NANDO:2100180 Congenital atransferrinemia semapv:MappingInversion +MONDO:0008846 atransferrinemia skos:closeMatch NANDO:2200617 Congenital atransferrinemia semapv:MappingInversion +MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:closeMatch NANDO:1200753 Congenital central hypoventilation syndrome semapv:MappingInversion +MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:closeMatch NANDO:2100032 Congenital central hypoventilation syndrome semapv:MappingInversion +MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:closeMatch NANDO:2200198 Congenital central hypoventilation syndrome semapv:MappingInversion +MONDO:0008855 MHC class II deficiency skos:closeMatch NANDO:1200329 MHC class II deficiency semapv:MappingInversion +MONDO:0008855 MHC class II deficiency skos:closeMatch NANDO:2200702 MHC class II deficiency semapv:MappingInversion +MONDO:0008863 sitosterolemia skos:closeMatch NANDO:1200853 Sitosterolemia semapv:MappingInversion +MONDO:0008867 biliary atresia skos:closeMatch NANDO:1200913 Biliary atresia semapv:MappingInversion +MONDO:0008867 biliary atresia skos:closeMatch NANDO:2200930 biliary atresia semapv:MappingInversion +MONDO:0008876 Bloom syndrome skos:closeMatch NANDO:1200333 Bloom syndrome semapv:MappingInversion +MONDO:0008876 Bloom syndrome skos:closeMatch NANDO:2200707 Bloom syndrome semapv:MappingInversion +MONDO:0008888 Williams-Campbell syndrome skos:closeMatch NANDO:2201040 Bronchomalacia semapv:MappingInversion +MONDO:0008889 thromboangiitis obliterans skos:closeMatch NANDO:1200266 Buerger's disease semapv:MappingInversion +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 semapv:MappingInversion +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch NANDO:2200773 CARD9 deficiency semapv:MappingInversion +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch NANDO:1200972 Carnitine-acylcarnitine translocase deficiency semapv:MappingInversion +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch NANDO:2200511 Carnitine-acylcarnitine translocase deficiency semapv:MappingInversion +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch NANDO:1200973 Systemic primary carnitine deficiency semapv:MappingInversion +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch NANDO:2200508 Organic cation transporter 2 deficiency semapv:MappingInversion +MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch NANDO:1200207 Idiopathic basal ganglia calcification semapv:MappingInversion +MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch NANDO:1200856 Cerebrotendinous xanthomatosis semapv:MappingInversion +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200151 Congenital neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201240 Congenital neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch NANDO:1200350 Chédiak-Higashi syndrome semapv:MappingInversion +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch NANDO:1200639 Chédiak-Higashi syndrome semapv:MappingInversion +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch NANDO:2200724 Chédiak-Higashi syndrome semapv:MappingInversion +MONDO:0008965 CHARGE syndrome skos:closeMatch NANDO:1200464 CHARGE syndrome semapv:MappingInversion +MONDO:0008965 CHARGE syndrome skos:closeMatch NANDO:2200972 CHARGE syndrome semapv:MappingInversion +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 semapv:MappingInversion +MONDO:0008974 Greenberg dysplasia skos:closeMatch NANDO:2201361 Greenberg dysplasia semapv:MappingInversion +MONDO:0008977 chondrosarcoma skos:closeMatch NANDO:2200050 Chondrosarcoma semapv:MappingInversion +MONDO:0008978 chordoma skos:closeMatch NANDO:2200098 Chordoma semapv:MappingInversion +MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch NANDO:1200939 Central areolar choroidal dystrophy semapv:MappingInversion +MONDO:0008988 citrullinemia type I skos:closeMatch NANDO:1200805 Classic citrullinemia semapv:MappingInversion +MONDO:0008988 citrullinemia type I skos:closeMatch NANDO:2200480 Argininosuccinate synthetase deficiency semapv:MappingInversion +MONDO:0008996 obsolete COACH syndrome 1 skos:closeMatch NANDO:1201050 COACH syndrome semapv:MappingInversion +MONDO:0008999 Cohen syndrome skos:closeMatch NANDO:2200750 Cohen syndrome semapv:MappingInversion +MONDO:0009006 complement component 2 deficiency skos:closeMatch NANDO:2200781 C2 deficiency semapv:MappingInversion +MONDO:0009010 aortic arch interruption skos:closeMatch NANDO:2200288 Interruption of aortic arch complex semapv:MappingInversion +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch NANDO:2100130 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch NANDO:2200362 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0009026 Costello syndrome skos:closeMatch NANDO:1200463 Costello syndrome semapv:MappingInversion +MONDO:0009026 Costello syndrome skos:closeMatch NANDO:2200971 Costello syndrome semapv:MappingInversion +MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch NANDO:2201368 Craniodiaphyseal dysplasia semapv:MappingInversion +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch NANDO:1201059 Baller-Gerold syndrome semapv:MappingInversion +MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch NANDO:2100272 Crigler-Najjar syndrome semapv:MappingInversion +MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch NANDO:2200941 Crigler-Najjar syndrome semapv:MappingInversion +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia semapv:MappingInversion +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch NANDO:1200379 Cushing disease semapv:MappingInversion +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch NANDO:2200350 Cushing disease semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:closeMatch NANDO:1200922 Cystic fibrosis semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:closeMatch NANDO:1201021 Cystic fibrosis semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:closeMatch NANDO:2100035 Cystic fibrosis semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:closeMatch NANDO:2200205 Cystic fibrosis semapv:MappingInversion +MONDO:0009064 ocular cystinosis skos:closeMatch NANDO:1200164 Non-nephropathic cystinosis semapv:MappingInversion +MONDO:0009064 ocular cystinosis skos:closeMatch NANDO:2201236 Non-nephropathic cystinosis semapv:MappingInversion +MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch NANDO:1200163 Intermediate cystinosis semapv:MappingInversion +MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch NANDO:2201235 Intermediate cystinosis semapv:MappingInversion +MONDO:0009067 cystinuria skos:closeMatch NANDO:2200489 Cystinuria semapv:MappingInversion +MONDO:0009072 Dandy-Walker syndrome skos:closeMatch NANDO:2200821 Dandy-Walker syndrome semapv:MappingInversion +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch NANDO:1200658 Nasu-Hakola disease semapv:MappingInversion +MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia skos:closeMatch NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid semapv:MappingInversion +MONDO:0009109 lysinuric protein intolerance skos:closeMatch NANDO:1200809 Lysinuric protein intolerance semapv:MappingInversion +MONDO:0009109 lysinuric protein intolerance skos:closeMatch NANDO:2200488 Lysinuric protein intolerance semapv:MappingInversion +MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 semapv:MappingInversion +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch NANDO:2200908 Congenital sucrase-isomaltase deficiency semapv:MappingInversion +MONDO:0009116 obsolete lactose intolerance skos:closeMatch NANDO:2200907 Lactose intolerance semapv:MappingInversion +MONDO:0009123 orthostatic hypotension 1 skos:closeMatch NANDO:2200597 Dopamine beta hydroxylase deficiency semapv:MappingInversion +MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch NANDO:1200887 Congenital dyserythropoietic anemia type II semapv:MappingInversion +MONDO:0009138 dysosteosclerosis skos:closeMatch NANDO:2201365 Dysosteosclerosis semapv:MappingInversion +MONDO:0009141 torsion dystonia 2 skos:closeMatch NANDO:1200513 Dystonia 2 semapv:MappingInversion +MONDO:0009144 Ebstein anomaly skos:closeMatch NANDO:1200711 Ebstein's anomaly semapv:MappingInversion +MONDO:0009144 Ebstein anomaly skos:closeMatch NANDO:2100080 Ebstein's anomaly semapv:MappingInversion +MONDO:0009144 Ebstein anomaly skos:closeMatch NANDO:2200260 Ebstein's anomaly semapv:MappingInversion +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingInversion +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingInversion +MONDO:0009169 endocardial fibroelastosis skos:closeMatch NANDO:2100060 Endocardial fibroelastosis semapv:MappingInversion +MONDO:0009169 endocardial fibroelastosis skos:closeMatch NANDO:2200235 Endocardial fibroelastosis semapv:MappingInversion +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch NANDO:2200910 Enterokinase deficiency semapv:MappingInversion +MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch NANDO:2200768 Epidermodysplasia verruciformis semapv:MappingInversion +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch NANDO:1200238 Recessive dystrophic epidermolysis bullosa semapv:MappingInversion +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe semapv:MappingInversion +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy semapv:MappingInversion +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch NANDO:1201065 Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch NANDO:2200119 Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch NANDO:2201378 Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia semapv:MappingInversion +MONDO:0009194 immunodeficiency 32B skos:closeMatch NANDO:2200808 Chronic active EB virus infection semapv:MappingInversion +MONDO:0009218 Farber lipogranulomatosis skos:closeMatch NANDO:1200086 Farber disease semapv:MappingInversion +MONDO:0009218 Farber lipogranulomatosis skos:closeMatch NANDO:2200565 Farber disease semapv:MappingInversion +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch NANDO:2200685 High molecular weight kininogen deficiency semapv:MappingInversion +MONDO:0009238 hereditary folate malabsorption skos:closeMatch NANDO:1200810 Hereditary folate malabsorption semapv:MappingInversion +MONDO:0009238 hereditary folate malabsorption skos:closeMatch NANDO:2200592 Hereditary folate malabsorption semapv:MappingInversion +MONDO:0009249 hereditary fructose intolerance skos:closeMatch NANDO:2200531 Hereditary fructose intolerance semapv:MappingInversion +MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch NANDO:2200535 Fructose-1,6-bisphosphatase deficiency semapv:MappingInversion +MONDO:0009254 fucosidosis skos:closeMatch NANDO:1200130 Fucosidosis semapv:MappingInversion +MONDO:0009254 fucosidosis skos:closeMatch NANDO:2200553 Fucosidosis semapv:MappingInversion +MONDO:0009255 galactokinase deficiency skos:closeMatch NANDO:2200533 Galactokinase deficiency semapv:MappingInversion +MONDO:0009257 galactose epimerase deficiency skos:closeMatch NANDO:2200534 UDP-galactose-4-epimerase deficiency semapv:MappingInversion +MONDO:0009258 classic galactosemia skos:closeMatch NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency semapv:MappingInversion +MONDO:0009258 classic galactosemia skos:closeMatch NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency semapv:MappingInversion +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch NANDO:1200067 Infantile GM1 gangliosidosis semapv:MappingInversion +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch NANDO:2201196 GM1 gangliosidosis, infantile form semapv:MappingInversion +MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch NANDO:1200068 Juvenile GM1 gangliosidosis semapv:MappingInversion +MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch NANDO:2201197 GM1 gangliosidosis, juvenile form semapv:MappingInversion +MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch NANDO:1200069 Adult GM1 gangliosidosis semapv:MappingInversion +MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch NANDO:2201198 GM1 gangliosidosis, adult form semapv:MappingInversion +MONDO:0009265 Gaucher disease type I skos:closeMatch NANDO:1200057 Gaucher disease type 1 semapv:MappingInversion +MONDO:0009265 Gaucher disease type I skos:closeMatch NANDO:2201210 Gaucher disease type 1 semapv:MappingInversion +MONDO:0009266 Gaucher disease type II skos:closeMatch NANDO:1200058 Gaucher disease type 2 semapv:MappingInversion +MONDO:0009266 Gaucher disease type II skos:closeMatch NANDO:2201211 Gaucher disease type 2 semapv:MappingInversion +MONDO:0009267 Gaucher disease type III skos:closeMatch NANDO:1200059 Gaucher disease type 3 semapv:MappingInversion +MONDO:0009267 Gaucher disease type III skos:closeMatch NANDO:2201212 Gaucher disease type 3 semapv:MappingInversion +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch NANDO:2200656 Bernard-Soulier syndrome semapv:MappingInversion +MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0009279 triple-A syndrome skos:closeMatch NANDO:1200410 Allgrove syndrome semapv:MappingInversion +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch NANDO:1200800 Glutaric acidemia type 1 semapv:MappingInversion +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200501 Glutaric acidemia type 1 semapv:MappingInversion +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:1200801 Glutaric acidemia type 2 semapv:MappingInversion +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200502 Glutaric acidemia type 2 semapv:MappingInversion +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch NANDO:2201153 Glycogen storage disease type 1a semapv:MappingInversion +MONDO:0009288 glycogen storage disease Ib skos:closeMatch NANDO:1200841 Hepatic glycogen storage disease type Ib semapv:MappingInversion +MONDO:0009288 glycogen storage disease Ib skos:closeMatch NANDO:2200754 Glycogen storage disease type 1b semapv:MappingInversion +MONDO:0009288 glycogen storage disease Ib skos:closeMatch NANDO:2201154 Glycogen storage disease type 1b semapv:MappingInversion +MONDO:0009290 glycogen storage disease II skos:closeMatch NANDO:1200138 Pompe disease semapv:MappingInversion +MONDO:0009290 glycogen storage disease II skos:closeMatch NANDO:1200825 Glycogen storage diseases type II semapv:MappingInversion +MONDO:0009290 glycogen storage disease II skos:closeMatch NANDO:2200569 Pompe disease semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:closeMatch NANDO:1200826 Glycogen storage diseases type III semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:closeMatch NANDO:1200844 Hepatic GSD type IIIc semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:closeMatch NANDO:1201019 Hepatic glycogen storage disease type III semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:closeMatch NANDO:2200539 Glycogen storage disease type III semapv:MappingInversion +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch NANDO:1200827 Glycogen storage diseases type IV semapv:MappingInversion +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch NANDO:1200850 Hepatic glycogen storage disease type IV semapv:MappingInversion +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch NANDO:2200540 Glycogen storage disease type IV semapv:MappingInversion +MONDO:0009293 glycogen storage disease V skos:closeMatch NANDO:1200828 Glycogen storage diseases type V semapv:MappingInversion +MONDO:0009293 glycogen storage disease V skos:closeMatch NANDO:2200541 Glycogen storage disease type V semapv:MappingInversion +MONDO:0009294 glycogen storage disease VI skos:closeMatch NANDO:1200846 Hepatic glycogen storage disease type VI semapv:MappingInversion +MONDO:0009294 glycogen storage disease VI skos:closeMatch NANDO:2200542 Glycogen storage disease type VI semapv:MappingInversion +MONDO:0009295 glycogen storage disease VII skos:closeMatch NANDO:1200823 Muscle glycogen storage disease semapv:MappingInversion +MONDO:0009295 glycogen storage disease VII skos:closeMatch NANDO:1200829 Glycogen storage diseases type VII semapv:MappingInversion +MONDO:0009295 glycogen storage disease VII skos:closeMatch NANDO:2200543 Glycogen storage disease type VII semapv:MappingInversion +MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch NANDO:2200384 Ovarian dysgenesis semapv:MappingInversion +MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch NANDO:1200718 Goodpasture syndrome semapv:MappingInversion +MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch NANDO:2200125 Goodpasture syndrome semapv:MappingInversion +MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch NANDO:2201280 p22phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:closeMatch NANDO:2201281 p47phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch NANDO:2201282 p67phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0009315 congenital factor XII deficiency skos:closeMatch NANDO:2200680 Factor XII deficiency semapv:MappingInversion +MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch NANDO:2200973 Hallermann-Streiff syndrome semapv:MappingInversion +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 semapv:MappingInversion +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch NANDO:2200886 Pantothenate kinase-associated neurodegeneration semapv:MappingInversion +MONDO:0009324 Hartnup disease skos:closeMatch NANDO:2200487 Hartnup disease semapv:MappingInversion +MONDO:0009326 congenital heart block skos:closeMatch NANDO:2200214 Complete atrio-ventricular block semapv:MappingInversion +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency semapv:MappingInversion +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency semapv:MappingInversion +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch NANDO:1200663 Mowat-Wilson syndrome semapv:MappingInversion +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch NANDO:2200981 Mowat-Wilson syndrome semapv:MappingInversion +MONDO:0009352 classic homocystinuria skos:closeMatch NANDO:1201039 Homocystinuria type 1 semapv:MappingInversion +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch NANDO:1201041 Homocystinuria type 3 semapv:MappingInversion +MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch NANDO:2201109 Methylcobalamin deficiency cblE type semapv:MappingInversion +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch NANDO:1200803 Carbamoyl phosphate synthetase I deficiency semapv:MappingInversion +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch NANDO:2200478 Carbamoylphosphate synthetase deficiency semapv:MappingInversion +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NANDO:1200808 NAGS deficiency semapv:MappingInversion +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NANDO:2200477 N-acetylglutamate synthetase deficiency semapv:MappingInversion +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency semapv:MappingInversion +MONDO:0009393 ornithine translocase deficiency skos:closeMatch NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:closeMatch NANDO:1200411 Addison's disease semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:closeMatch NANDO:1200412 Autoimmune Addison's disease semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:closeMatch NANDO:2200359 Other chronic adrenal insufficiency semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:closeMatch NANDO:2200360 Addison's disease semapv:MappingInversion +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch NANDO:2200346 Autoimmune polyendocrinopathy type 1 semapv:MappingInversion +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch NANDO:1200824 Glycogen storage diseases type 0 semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch NANDO:1200838 Hepatic glycogen storage disease semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch NANDO:2200537 Glycogen synthase deficiency semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch NANDO:2201151 Glycogen storage disease type 0a semapv:MappingInversion +MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch NANDO:1200614 Harlequin ichthyosis semapv:MappingInversion +MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch NANDO:2200992 Harlequin ichthyosis semapv:MappingInversion +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch NANDO:1200337 Schimke syndrome semapv:MappingInversion +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch NANDO:2200711 Schimke syndrome semapv:MappingInversion +MONDO:0009475 isovaleric acidemia skos:closeMatch NANDO:1200798 Isovaleric acidemia semapv:MappingInversion +MONDO:0009475 isovaleric acidemia skos:closeMatch NANDO:2200494 Isovaleric acidemia semapv:MappingInversion +MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch NANDO:1200662 Arima syndrome semapv:MappingInversion +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:MappingInversion +MONDO:0009499 Krabbe disease skos:closeMatch NANDO:1200074 Krabbe disease semapv:MappingInversion +MONDO:0009499 Krabbe disease skos:closeMatch NANDO:2200564 Krabbe disease semapv:MappingInversion +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch NANDO:1200602 Landau-Kleffner syndrome semapv:MappingInversion +MONDO:0009515 Norum disease skos:closeMatch NANDO:1200852 Lecithin cholesterol acyltransferase deficiency semapv:MappingInversion +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch NANDO:2200497 3-hydroxy-3-methylglutaric acidemia semapv:MappingInversion +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia semapv:MappingInversion +MONDO:0009530 lipoid proteinosis skos:closeMatch NANDO:2200608 Lipoid proteinosis semapv:MappingInversion +MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch NANDO:1201083 Miller Dieker syndrome semapv:MappingInversion +MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch NANDO:1200424 Lymphoid interstitial pneumonia semapv:MappingInversion +MONDO:0009561 alpha-mannosidosis skos:closeMatch NANDO:1200126 Alpha-mannosidosis semapv:MappingInversion +MONDO:0009562 beta-mannosidosis skos:closeMatch NANDO:1200129 Beta-mannosidosis semapv:MappingInversion +MONDO:0009562 beta-mannosidosis skos:closeMatch NANDO:2201190 Beta-mannosidosis semapv:MappingInversion +MONDO:0009563 maple syrup urine disease skos:closeMatch NANDO:1200791 Maple syrup urine disease semapv:MappingInversion +MONDO:0009563 maple syrup urine disease skos:closeMatch NANDO:2200473 Maple syrup urine disease semapv:MappingInversion +MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch NANDO:1200485 Marinesco-Sjogren syndrome semapv:MappingInversion +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch NANDO:1200864 Typical familial Mediterranean fever semapv:MappingInversion +MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch NANDO:2200827 Neurocutaneous melanosis semapv:MappingInversion +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch NANDO:1200082 Saposin B deficiency semapv:MappingInversion +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch NANDO:2201205 Saposin B deficiency semapv:MappingInversion +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch NANDO:1200080 Juvenile ｍetachromatic leukodystrophy semapv:MappingInversion +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch NANDO:2201203 Metachromatic leukodystrophy, juvenile form semapv:MappingInversion +MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch NANDO:2201111 Methylcobalamin deficiency cblG type semapv:MappingInversion +MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch NANDO:1200990 3-methylglutaconic aciduria type I semapv:MappingInversion +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency semapv:MappingInversion +MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch NANDO:1200795 Methylmalonic acidemia cblA type semapv:MappingInversion +MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch NANDO:2201105 Methylmalonic acidemia cblA type semapv:MappingInversion +MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch NANDO:1200796 Methylmalonic acidemia cblB type semapv:MappingInversion +MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch NANDO:2201106 Methylmalonic acidemia cblB type semapv:MappingInversion +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch NANDO:1200332 Nijmegen breakage syndrome semapv:MappingInversion +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch NANDO:2200706 Nijmegen breakage syndrome semapv:MappingInversion +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch NANDO:1200713 Galloway-Mowat syndrome semapv:MappingInversion +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch NANDO:2200120 Galloway-Mowat syndrome semapv:MappingInversion +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch NANDO:2201385 Galloway-Mowat syndrome semapv:MappingInversion +MONDO:0009635 microvillus inclusion disease skos:closeMatch NANDO:2100255 Microvillus inclusion disease semapv:MappingInversion +MONDO:0009635 microvillus inclusion disease skos:closeMatch NANDO:2200913 Microvillus inclusion disease semapv:MappingInversion +MONDO:0009641 obsolete mitochondrial complex II deficiency skos:closeMatch NANDO:1200181 Mitochondrial complex II deficiency semapv:MappingInversion +MONDO:0009650 mucolipidosis type II skos:closeMatch NANDO:1200124 Mucolipidosis II semapv:MappingInversion +MONDO:0009650 mucolipidosis type II skos:closeMatch NANDO:2200567 Mucolipidosis II semapv:MappingInversion +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch NANDO:1200101 Sanfilippo disease type A semapv:MappingInversion +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch NANDO:2201174 Mucopolysaccharidosis type III A semapv:MappingInversion +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch NANDO:1200102 Sanfilippo disease type B semapv:MappingInversion +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch NANDO:2201175 Mucopolysaccharidosis type III B semapv:MappingInversion +MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch NANDO:1200103 Sanfilippo disease type C semapv:MappingInversion +MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch NANDO:2201176 Mucopolysaccharidosis type III C semapv:MappingInversion +MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch NANDO:1200104 Sanfilippo disease type D semapv:MappingInversion +MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch NANDO:2201177 Mucopolysaccharidosis type III D semapv:MappingInversion +MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch NANDO:1200106 Morquio syndrome type A semapv:MappingInversion +MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch NANDO:2201178 Mucopolysaccharidosis type IV A semapv:MappingInversion +MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch NANDO:1200107 Morquio syndrome type B semapv:MappingInversion +MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch NANDO:2201179 Mucopolysaccharidosis type IV B semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch NANDO:1200108 Maroteaux-Lamy syndrome semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch NANDO:2200551 Mucopolysaccharidosis type VI semapv:MappingInversion +MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch NANDO:1200111 Sly syndrome semapv:MappingInversion +MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch NANDO:2200552 Mucopolysaccharidosis type VII semapv:MappingInversion +MONDO:0009665 biotinidase deficiency skos:closeMatch NANDO:1200822 Biotinidase deficiency semapv:MappingInversion +MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch NANDO:1200821 Holocarboxylase synthetase deficiency semapv:MappingInversion +MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch NANDO:1200004 Spinal muscular atrophy type I semapv:MappingInversion +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch NANDO:1200006 Spinal muscular atrophy type III semapv:MappingInversion +MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch NANDO:1200005 Spinal muscular atrophy type II semapv:MappingInversion +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch NANDO:1200494 Fukuyama type congenital muscular dystrophy semapv:MappingInversion +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch NANDO:2200860 Fukuyama type congenital muscular dystrophy semapv:MappingInversion +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch NANDO:1200215 Ullrich disease semapv:MappingInversion +MONDO:0009685 Miyoshi myopathy skos:closeMatch NANDO:1200217 Miyoshi myopathy semapv:MappingInversion +MONDO:0009688 myasthenia gravis skos:closeMatch NANDO:1200020 Myasthenia gravis semapv:MappingInversion +MONDO:0009688 myasthenia gravis skos:closeMatch NANDO:2100252 Myasthenia gravis semapv:MappingInversion +MONDO:0009688 myasthenia gravis skos:closeMatch NANDO:2200906 Myasthenia gravis semapv:MappingInversion +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea semapv:MappingInversion +MONDO:0009694 myeloperoxidase deficiency skos:closeMatch NANDO:1200358 Myeloperoxidase deficiency semapv:MappingInversion +MONDO:0009694 myeloperoxidase deficiency skos:closeMatch NANDO:2200758 Myeloperoxidase deficiency semapv:MappingInversion +MONDO:0009697 Lafora disease skos:closeMatch NANDO:1200955 Lafora disease semapv:MappingInversion +MONDO:0009697 Lafora disease skos:closeMatch NANDO:2200881 Lafora disease semapv:MappingInversion +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch NANDO:1200954 Unverricht-Lundborg disease semapv:MappingInversion +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch NANDO:2200880 Unverricht-Lundborg disease semapv:MappingInversion +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch NANDO:1200970 Carnitine palmitoyltransferase I deficiency semapv:MappingInversion +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch NANDO:2200509 Carnitine palmitoyltransferase I deficiency semapv:MappingInversion +MONDO:0009710 Thomsen and Becker disease skos:closeMatch NANDO:1200497 Myotonia congenita semapv:MappingInversion +MONDO:0009710 Thomsen and Becker disease skos:closeMatch NANDO:1200498 Thomsen disease semapv:MappingInversion +MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch NANDO:1200483 Congenital fiber-type disproportion myopathy semapv:MappingInversion +MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch NANDO:2200868 Congenital fiber-type disproportion myopathy semapv:MappingInversion +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch NANDO:2200872 Minicore myopathy semapv:MappingInversion +MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch NANDO:1200499 Becker disease semapv:MappingInversion +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch NANDO:1200224 Schwartz-Jampel syndrome semapv:MappingInversion +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch NANDO:2100235 Schwartz-Jampel syndrome semapv:MappingInversion +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch NANDO:2200876 Schwartz-Jampel syndrome semapv:MappingInversion +MONDO:0009723 Leigh syndrome skos:closeMatch NANDO:1200175 Leigh's encephalomyelopathy semapv:MappingInversion +MONDO:0009723 Leigh syndrome skos:closeMatch NANDO:2200527 Leigh syndrome semapv:MappingInversion +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch NANDO:1200867 Nakajo-Nishimura syndrome semapv:MappingInversion +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch NANDO:2200435 Nakajo-Nishimura syndrome semapv:MappingInversion +MONDO:0009728 nephronophthisis 1 skos:closeMatch NANDO:1201036 Nephronophthisis semapv:MappingInversion +MONDO:0009728 nephronophthisis 1 skos:closeMatch NANDO:2200140 Nephronophthisis semapv:MappingInversion +MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch NANDO:2200110 Congenital nephrotic syndrome of the Finnish type semapv:MappingInversion +MONDO:0009735 Netherton syndrome skos:closeMatch NANDO:1200338 Netherton syndrome semapv:MappingInversion +MONDO:0009735 Netherton syndrome skos:closeMatch NANDO:1200619 Netherton syndrome semapv:MappingInversion +MONDO:0009735 Netherton syndrome skos:closeMatch NANDO:2200993 Netherton syndrome semapv:MappingInversion +MONDO:0009737 galactosialidosis skos:closeMatch NANDO:1200119 Galactosialidosis semapv:MappingInversion +MONDO:0009737 galactosialidosis skos:closeMatch NANDO:2200557 Galactosialidosis semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:closeMatch NANDO:1200118 Sialidosis type 2 semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:closeMatch NANDO:1200120 Galactosialidosis, early infantile form semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:closeMatch NANDO:2201192 Sialidosis type 2 semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:closeMatch NANDO:2201193 Galactosialidosis, early infantile form semapv:MappingInversion +MONDO:0009739 obsolete infantile neuroaxonal dystrophy skos:closeMatch NANDO:2200887 Infantile neuroaxonal dystrophy semapv:MappingInversion +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch NANDO:1200152 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch NANDO:2201241 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch NANDO:1200553 Congenital insensitivity to pain with anhidrosis semapv:MappingInversion +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch NANDO:2200854 Congenital insensitivity to pain with anhidrosis semapv:MappingInversion +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch NANDO:1200061 Niemann-Pick disease type A semapv:MappingInversion +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch NANDO:2201206 Niemann-Pick disease type A semapv:MappingInversion +MONDO:0009763 obesity-hypoventilation syndrome skos:closeMatch NANDO:1200752 Obesity hypoventilation syndrome semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:closeMatch NANDO:1200909 Cloacal exstrophy semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:closeMatch NANDO:1200910 Persistent cloaca semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:closeMatch NANDO:2200950 Persistent cloaca semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:closeMatch NANDO:2200951 Cloacal exstrophy semapv:MappingInversion +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch NANDO:1200992 3-methylglutaconic aciduria type III semapv:MappingInversion +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch NANDO:2200484 Hyperornithinemia semapv:MappingInversion +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch NANDO:2200486 Gyrate atrophy of choroid and retina semapv:MappingInversion +MONDO:0009797 orotic aciduria skos:closeMatch NANDO:2200590 Orotic aciduria semapv:MappingInversion +MONDO:0009799 obsolete pachydermoperiostosis skos:closeMatch NANDO:1200642 Pachydermoperiostosis semapv:MappingInversion +MONDO:0009799 obsolete pachydermoperiostosis skos:closeMatch NANDO:2100288 Pachydermoperiostosis semapv:MappingInversion +MONDO:0009799 obsolete pachydermoperiostosis skos:closeMatch NANDO:2201004 Pachydermoperiostosis semapv:MappingInversion +MONDO:0009807 osteosarcoma skos:closeMatch NANDO:2200048 Osteosarcoma semapv:MappingInversion +MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch NANDO:1200869 Chronic recurrent multifocal osteomyelitis semapv:MappingInversion +MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch NANDO:2200438 Chronic recurrent multifocal osteomyelitis semapv:MappingInversion +MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch NANDO:1200773 Primary hyperoxaluria type 1 semapv:MappingInversion +MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch NANDO:1200356 Shwachman-Diamond syndrome semapv:MappingInversion +MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch NANDO:2200756 Shwachman-Diamond syndrome semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:1200195 Subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:1200196 Typical subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:1200198 Subacute progressive sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:2100245 Subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:2200899 Subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009837 choroid plexus papilloma skos:closeMatch NANDO:2200093 Choroid plexus papilloma semapv:MappingInversion +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch NANDO:1200866 Hyper IgD syndrome semapv:MappingInversion +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch NANDO:2200436 Hyper IgD syndrome semapv:MappingInversion +MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch NANDO:1200766 D-bifunctional protein deficiency semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:closeMatch NANDO:1200784 Phenylketonuria semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:closeMatch NANDO:1200785 Phenylalanine hydroxylase deficiency semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:closeMatch NANDO:2200467 Phenylketonuria semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:closeMatch NANDO:2201075 Phenylalanine hydroxylase deficiency semapv:MappingInversion +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch NANDO:1200832 Glycogen storage diseases type X semapv:MappingInversion +MONDO:0009868 glycogen storage disease IXb skos:closeMatch NANDO:1200848 Hepatic glycogen storage disease type IXb semapv:MappingInversion +MONDO:0009868 glycogen storage disease IXb skos:closeMatch NANDO:2201165 Glycogen storage disease type IXb semapv:MappingInversion +MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch NANDO:2200687 Alpha-2-plasmin inhibitor deficiency semapv:MappingInversion +MONDO:0009885 Scott syndrome skos:closeMatch NANDO:2200671 Scott syndrome semapv:MappingInversion +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch NANDO:1200422 Desquamative interstitial pneumonia semapv:MappingInversion +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease semapv:MappingInversion +MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch NANDO:1200369 Autosomal recessive polycystic kidney disease semapv:MappingInversion +MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch NANDO:2200154 Autosomal recessive polycystic kidney disease semapv:MappingInversion +MONDO:0009891 acquired polycythemia vera skos:closeMatch NANDO:2100186 Polycythemia vera semapv:MappingInversion +MONDO:0009891 acquired polycythemia vera skos:closeMatch NANDO:2200643 Polycythemia vera semapv:MappingInversion +MONDO:0009897 adult polyglucosan body disease skos:closeMatch NANDO:2201163 Glycogen storage disease type IV, adult form semapv:MappingInversion +MONDO:0009902 cutaneous porphyria skos:closeMatch NANDO:1200817 Congenital erythropoietic porphyria semapv:MappingInversion +MONDO:0009902 cutaneous porphyria skos:closeMatch NANDO:2201268 Congenital erythropoietic porphyria semapv:MappingInversion +MONDO:0009904 Gitelman syndrome skos:closeMatch NANDO:2100020 Gitelman syndrome semapv:MappingInversion +MONDO:0009904 Gitelman syndrome skos:closeMatch NANDO:2200145 Gitelman syndrome semapv:MappingInversion +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency semapv:MappingInversion +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency semapv:MappingInversion +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch NANDO:2200389 5 alpha-reductase deficiency semapv:MappingInversion +MONDO:0009924 vitamin D-dependent rickets, type 1 skos:closeMatch NANDO:1200782 Vitamin D-dependent rickets, type 1 semapv:MappingInversion +MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch NANDO:2200202 Pulmonary alveolar microlithiasis semapv:MappingInversion +MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:closeMatch NANDO:2200295 Pulmonary arteriovenous fistulae semapv:MappingInversion +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch NANDO:1200707 Pulmonary atresia with intact ventricular septum semapv:MappingInversion +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch NANDO:2200253 Pulmonary atresia with intact ventricular septum semapv:MappingInversion +MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch NANDO:1200427 Pulmonary veno-occlusive disease semapv:MappingInversion +MONDO:0009940 pycnodysostosis skos:closeMatch NANDO:2201023 Pycnodysostosis semapv:MappingInversion +MONDO:0009943 Pyle disease skos:closeMatch NANDO:2201367 Metaphyseal dysplasias semapv:MappingInversion +MONDO:0009948 pyropoikilocytosis, hereditary skos:closeMatch NANDO:2200631 Hereditary pyropoikilocytosis semapv:MappingInversion +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch NANDO:2200519 Pyruvate carboxylase deficiency semapv:MappingInversion +MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:MappingInversion +MONDO:0009955 rapadilino syndrome skos:closeMatch NANDO:1201058 RAPADILINO syndrome semapv:MappingInversion +MONDO:0009958 adult Refsum disease skos:closeMatch NANDO:1200769 Refsum disease semapv:MappingInversion +MONDO:0009958 adult Refsum disease skos:closeMatch NANDO:2200577 Refsum disease semapv:MappingInversion +MONDO:0009973 reticular dysgenesis skos:closeMatch NANDO:1200322 Reticular dysgenesis semapv:MappingInversion +MONDO:0009973 reticular dysgenesis skos:closeMatch NANDO:2200695 Reticular dysgenesis semapv:MappingInversion +MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch NANDO:1200671 Rothmund-Thomson syndrome semapv:MappingInversion +MONDO:0010006 Sandhoff disease skos:closeMatch NANDO:1200072 Sandhoff disease semapv:MappingInversion +MONDO:0010006 Sandhoff disease skos:closeMatch NANDO:2201200 Sandhoff disease semapv:MappingInversion +MONDO:0010011 schizencephaly skos:closeMatch NANDO:1201073 Schizencephaly semapv:MappingInversion +MONDO:0010011 schizencephaly skos:closeMatch NANDO:2200818 Schizencephaly semapv:MappingInversion +MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch NANDO:2200347 Autoimmune polyendocrinopathy type 2 semapv:MappingInversion +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch NANDO:1200327 Zap-70 deficiency semapv:MappingInversion +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch NANDO:2200700 ZAP-70 deficiency semapv:MappingInversion +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch NANDO:1200147 Infantile free sialic acid storage disease semapv:MappingInversion +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch NANDO:2201237 Infantile free sialic acid storage disease semapv:MappingInversion +MONDO:0010030 Sjogren syndrome skos:closeMatch NANDO:1200279 Sjogren's syndrome semapv:MappingInversion +MONDO:0010030 Sjogren syndrome skos:closeMatch NANDO:1200280 Primary Sjogren's syndrome semapv:MappingInversion +MONDO:0010030 Sjogren syndrome skos:closeMatch NANDO:2200420 Sjogren's syndrome semapv:MappingInversion +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch NANDO:1200620 Sjögren-Larsson syndrome semapv:MappingInversion +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch NANDO:2200994 Sjögren-Larsson syndrome semapv:MappingInversion +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch NANDO:1200961 Smith-lemli-opitz syndrome semapv:MappingInversion +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch NANDO:2200979 Smith-Lemli-Opitz syndrome semapv:MappingInversion +MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch NANDO:2200320 IGF1 insensitivity semapv:MappingInversion +MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch NANDO:1200007 Spinal muscular atrophy type IV semapv:MappingInversion +MONDO:0010066 familial isolated congenital asplenia skos:closeMatch NANDO:2200775 Isolated congenital asplenia semapv:MappingInversion +MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch NANDO:2201351 Spondyloperipheral dysplasia semapv:MappingInversion +MONDO:0010079 Canavan disease skos:closeMatch NANDO:1200948 Canavan disease semapv:MappingInversion +MONDO:0010079 Canavan disease skos:closeMatch NANDO:2200834 Canavan disease semapv:MappingInversion +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency semapv:MappingInversion +MONDO:0010088 mucosulfatidosis skos:closeMatch NANDO:1200083 Multiple sulfatase deficiency semapv:MappingInversion +MONDO:0010088 mucosulfatidosis skos:closeMatch NANDO:1200624 Multiple sulfatase deficiency semapv:MappingInversion +MONDO:0010088 mucosulfatidosis skos:closeMatch NANDO:2200566 Multiple sulfatase deficiency semapv:MappingInversion +MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch NANDO:2200583 Sulfite oxidase deficiency semapv:MappingInversion +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch NANDO:1200073 GM2 gangliosidosis AB variant semapv:MappingInversion +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch NANDO:2201201 GM2 gangliosidosis AB variant semapv:MappingInversion +MONDO:0010100 Tay-Sachs disease skos:closeMatch NANDO:1200071 Tay-Sachs disease semapv:MappingInversion +MONDO:0010100 Tay-Sachs disease skos:closeMatch NANDO:2201199 Tay-Sachs disease semapv:MappingInversion +MONDO:0010119 obsolete Glanzmann's thrombasthenia skos:closeMatch NANDO:2200657 Thrombasthenia semapv:MappingInversion +MONDO:0010119 obsolete Glanzmann's thrombasthenia skos:closeMatch NANDO:2200664 ITGA2B/ITGB3 mutations semapv:MappingInversion +MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch NANDO:2200661 Thrombocytopenia with absent radii semapv:MappingInversion +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch NANDO:1200317 Congenital thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch NANDO:1200395 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch NANDO:2100121 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch NANDO:2200341 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch NANDO:1200622 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch NANDO:1200623 Neutral lipid storage disease with ichthyosis semapv:MappingInversion +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch NANDO:2200997 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0010160 tyrosinemia type II skos:closeMatch NANDO:1200789 Tyrosinemia type 2 semapv:MappingInversion +MONDO:0010160 tyrosinemia type II skos:closeMatch NANDO:2200469 Tyrosinemia type 2 semapv:MappingInversion +MONDO:0010161 tyrosinemia type I skos:closeMatch NANDO:1200788 Tyrosinemia type 1 semapv:MappingInversion +MONDO:0010161 tyrosinemia type I skos:closeMatch NANDO:2200468 Tyrosinemia type 1 semapv:MappingInversion +MONDO:0010162 tyrosinemia type III skos:closeMatch NANDO:1200790 Tyrosinemia type 3 semapv:MappingInversion +MONDO:0010162 tyrosinemia type III skos:closeMatch NANDO:2200470 Tyrosinemia type 3 semapv:MappingInversion +MONDO:0010168 Usher syndrome type 1 skos:closeMatch NANDO:1200942 Usher syndrome type I semapv:MappingInversion +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type semapv:MappingInversion +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch NANDO:1201040 Homocystinuria type 2 semapv:MappingInversion +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type semapv:MappingInversion +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch NANDO:1200797 Methylmalonic acidemia CblD type semapv:MappingInversion +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch NANDO:2201108 Methylmalonic acidemia CblD type semapv:MappingInversion +MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch NANDO:1200050 Ataxia with isolated vitamin E deficiency semapv:MappingInversion +MONDO:0010193 Weaver syndrome skos:closeMatch NANDO:1200659 Weaver syndrome semapv:MappingInversion +MONDO:0010193 Weaver syndrome skos:closeMatch NANDO:2200957 Weaver syndrome semapv:MappingInversion +MONDO:0010196 Werner syndrome skos:closeMatch NANDO:1200676 Werner syndrome semapv:MappingInversion +MONDO:0010196 Werner syndrome skos:closeMatch NANDO:2200831 Werner syndrome semapv:MappingInversion +MONDO:0010200 Wilson disease skos:closeMatch NANDO:1200655 Wilson disease semapv:MappingInversion +MONDO:0010200 Wilson disease skos:closeMatch NANDO:2200579 Wilson disease semapv:MappingInversion +MONDO:0010226 46,XY sex reversal 2 skos:closeMatch NANDO:1200404 DAX1 abnormality semapv:MappingInversion +MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch NANDO:1200599 PCDH19-related syndrome semapv:MappingInversion +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch NANDO:1200166 Childhood cerebral adrenoleukodystrophy semapv:MappingInversion +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch NANDO:2201246 Childhood cerebral adrenoleukodystrophy semapv:MappingInversion +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch NANDO:1200403 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch NANDO:2200357 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0010281 Danon disease skos:closeMatch NANDO:1200145 Danon disease semapv:MappingInversion +MONDO:0010281 Danon disease skos:closeMatch NANDO:1200222 Danon disease semapv:MappingInversion +MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch NANDO:2200984 MECP2 duplication syndrome semapv:MappingInversion +MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency semapv:MappingInversion +MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency semapv:MappingInversion +MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch NANDO:2200753 X linked severe congenital neutropenia semapv:MappingInversion +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch NANDO:2200586 Lesch-Nyhan syndrome semapv:MappingInversion +MONDO:0010305 creatine transporter deficiency skos:closeMatch NANDO:1201035 Creatine transporter deficiency semapv:MappingInversion +MONDO:0010305 creatine transporter deficiency skos:closeMatch NANDO:2201301 SLC6A8 deficiency semapv:MappingInversion +MONDO:0010311 Becker muscular dystrophy skos:closeMatch NANDO:1200489 Becker muscular dystrophy semapv:MappingInversion +MONDO:0010311 Becker muscular dystrophy skos:closeMatch NANDO:2200865 Becker muscular dystrophy semapv:MappingInversion +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch NANDO:1200321 X-linked severe combined immunodeficiency semapv:MappingInversion +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch NANDO:2200694 X-linked severe combined immunodeficiency semapv:MappingInversion +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch NANDO:1200580 Allan-Herndon-Dudley syndrome semapv:MappingInversion +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch NANDO:2201292 Allan-Herndon-Dudley syndrome semapv:MappingInversion +MONDO:0010362 glycogen storage disease IXd skos:closeMatch NANDO:1200830 Glycogen storage diseases type IXd semapv:MappingInversion +MONDO:0010362 glycogen storage disease IXd skos:closeMatch NANDO:2201167 Glycogen storage disease type IXd semapv:MappingInversion +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch NANDO:1200690 Fragile X syndrome related diseases semapv:MappingInversion +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch NANDO:1200691 Fragile X tremor/ataxia syndrome semapv:MappingInversion +MONDO:0010383 fragile X syndrome skos:closeMatch NANDO:1200692 Fragile X syndrome semapv:MappingInversion +MONDO:0010383 fragile X syndrome skos:closeMatch NANDO:2100224 Fragile X syndrome semapv:MappingInversion +MONDO:0010383 fragile X syndrome skos:closeMatch NANDO:2200840 Fragile X syndrome semapv:MappingInversion +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch NANDO:2201279 gp91phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch NANDO:1200831 Phosphoglycerate kinase deficiency semapv:MappingInversion +MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch NANDO:1200818 X-linked dominant protoporphyria semapv:MappingInversion +MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch NANDO:2201269 X-linked dominant protoporphyria semapv:MappingInversion +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch NANDO:1200343 X-linked agammaglobulinemia semapv:MappingInversion +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch NANDO:2200716 X-linked agammaglobulinemia semapv:MappingInversion +MONDO:0010434 synovial sarcoma skos:closeMatch NANDO:2200061 Synovial sarcoma semapv:MappingInversion +MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch NANDO:1200330 Wiskott-Aldrich syndrome semapv:MappingInversion +MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch NANDO:2200704 Wiskott-Aldrich syndrome semapv:MappingInversion +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch NANDO:1200665 ATR-X syndrome semapv:MappingInversion +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch NANDO:2100223 ATR-X syndrome semapv:MappingInversion +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch NANDO:2200839 ATR-X syndrome semapv:MappingInversion +MONDO:0010526 Fabry disease skos:closeMatch NANDO:1200157 Fabry disease semapv:MappingInversion +MONDO:0010526 Fabry disease skos:closeMatch NANDO:2200563 Fabry disease semapv:MappingInversion +MONDO:0010543 Barth syndrome skos:closeMatch NANDO:1200991 3-methylglutaconicaciduria type II semapv:MappingInversion +MONDO:0010543 Barth syndrome skos:closeMatch NANDO:2200751 Barth syndrome semapv:MappingInversion +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata semapv:MappingInversion +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch NANDO:2201360 Brachytelephalangic chondrodysplasia punctata semapv:MappingInversion +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch NANDO:1200660 Coffin-Lowry syndrome semapv:MappingInversion +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch NANDO:2200952 Coffin-Lowry syndrome semapv:MappingInversion +MONDO:0010568 Aicardi syndrome skos:closeMatch NANDO:1200562 Aicardi syndrome semapv:MappingInversion +MONDO:0010572 occipital horn syndrome skos:closeMatch NANDO:1200654 Occipital horn syndrome semapv:MappingInversion +MONDO:0010572 occipital horn syndrome skos:closeMatch NANDO:2200581 Occipital horn syndrome semapv:MappingInversion +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch NANDO:2200924 IPEX syndrome semapv:MappingInversion +MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch NANDO:1200847 Hepatic glycogen storage disease type IXa semapv:MappingInversion +MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch NANDO:2201164 Glycogen storage disease type IXa semapv:MappingInversion +MONDO:0010602 hemophilia A skos:closeMatch NANDO:2200676 Hemophilia A semapv:MappingInversion +MONDO:0010604 hemophilia B skos:closeMatch NANDO:2200677 Hemophilia B semapv:MappingInversion +MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch NANDO:2200505 Glycerol kinase deficiency semapv:MappingInversion +MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch NANDO:1200779 Vitamin D-resistant rickets semapv:MappingInversion +MONDO:0010621 CHILD syndrome skos:closeMatch NANDO:1200629 CHILD syndrome semapv:MappingInversion +MONDO:0010621 CHILD syndrome skos:closeMatch NANDO:2200998 CHILD syndrome semapv:MappingInversion +MONDO:0010621 CHILD syndrome skos:closeMatch NANDO:2201358 CHILD syndrome semapv:MappingInversion +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch NANDO:1200625 Recessive X-linked ichtyosis semapv:MappingInversion +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NANDO:1200351 X-linked lymphoproliferative syndrome semapv:MappingInversion +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NANDO:2200725 X-linked lymphoproliferative syndrome semapv:MappingInversion +MONDO:0010631 incontinentia pigmenti skos:closeMatch NANDO:2200974 Incontinentia pigmenti semapv:MappingInversion +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch NANDO:2100028 Lowe syndrome semapv:MappingInversion +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch NANDO:2200188 Lowe syndrome semapv:MappingInversion +MONDO:0010651 Menkes disease skos:closeMatch NANDO:1200653 Menkes disease semapv:MappingInversion +MONDO:0010651 Menkes disease skos:closeMatch NANDO:2200580 Menkes disease semapv:MappingInversion +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch NANDO:1200097 Hunter syndrome semapv:MappingInversion +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch NANDO:2200548 Mucopolysaccharidosis type II semapv:MappingInversion +MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch NANDO:1200488 Duchenne muscular dystrophy semapv:MappingInversion +MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch NANDO:2200856 Duchenne muscular dystrophy semapv:MappingInversion +MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch NANDO:1200223 X-linked Myopathy with excessive autophagy semapv:MappingInversion +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch NANDO:1200804 Ornithine transcarbamylase deficiency semapv:MappingInversion +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch NANDO:2200479 Ornithine transcarbamylase deficiency semapv:MappingInversion +MONDO:0010713 properdin deficiency, X-linked skos:closeMatch NANDO:2200789 Properdin deficiency semapv:MappingInversion +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch NANDO:1200576 Pelizaeus-Merzbacher disease semapv:MappingInversion +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch NANDO:2201288 Pelizaeus-Merzbacher disease semapv:MappingInversion +MONDO:0010725 X-linked retinoschisis skos:closeMatch NANDO:1200938 X-linked juvenile retinoschisis semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:closeMatch NANDO:1200603 Rett syndrome semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:closeMatch NANDO:1200604 Typical Rett syndrome semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:closeMatch NANDO:2100219 Rett syndrome semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:closeMatch NANDO:2200825 Rett syndrome semapv:MappingInversion +MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch NANDO:2200978 Simpson-Golabi-Behmel syndrome semapv:MappingInversion +MONDO:0010735 Kennedy disease skos:closeMatch NANDO:1200001 Spinal and bulbar muscular atrophy semapv:MappingInversion +MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch NANDO:1200514 Dystonia 3 semapv:MappingInversion +MONDO:0010778 cyclic vomiting syndrome skos:closeMatch NANDO:2100258 Cyclic vomiting syndrome semapv:MappingInversion +MONDO:0010778 cyclic vomiting syndrome skos:closeMatch NANDO:2200919 Cyclic vomiting syndrome semapv:MappingInversion +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch NANDO:1201064 Kearns-Sayre syndrome semapv:MappingInversion +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch NANDO:2200529 Kearns-Sayre syndrome semapv:MappingInversion +MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch NANDO:1200178 Leber hereditary optic neuropathy semapv:MappingInversion +MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch NANDO:1200940 Leber hereditary optic neuropathy semapv:MappingInversion +MONDO:0010789 MELAS syndrome skos:closeMatch NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome semapv:MappingInversion +MONDO:0010789 MELAS syndrome skos:closeMatch NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) semapv:MappingInversion +MONDO:0010790 MERRF syndrome skos:closeMatch NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers semapv:MappingInversion +MONDO:0010790 MERRF syndrome skos:closeMatch NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers semapv:MappingInversion +MONDO:0010808 fatal familial insomnia skos:closeMatch NANDO:1200191 Fatal familial insomnia semapv:MappingInversion +MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 semapv:MappingInversion +MONDO:0010829 CARASIL syndrome skos:closeMatch NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy semapv:MappingInversion +MONDO:0010857 semantic dementia skos:closeMatch NANDO:1200550 Semantic dementia semapv:MappingInversion +MONDO:0010894 maturity-onset diabetes of the young type 3 skos:closeMatch NANDO:2201071 Maturity-onset diabetes of the young type 3 semapv:MappingInversion +MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome semapv:MappingInversion +MONDO:0010913 Caroli disease skos:closeMatch NANDO:2200934 Caroli disease semapv:MappingInversion +MONDO:0010931 vitamin D-dependent rickets, type 2B skos:closeMatch NANDO:1200779 Vitamin D-resistant rickets semapv:MappingInversion +MONDO:0010940 inherited susceptibility to asthma skos:closeMatch NANDO:2100031 Bronchial asthma semapv:MappingInversion +MONDO:0010940 inherited susceptibility to asthma skos:closeMatch NANDO:2200197 Bronchial asthma semapv:MappingInversion +MONDO:0010947 Budd-Chiari syndrome skos:closeMatch NANDO:1200437 Budd-Chiari syndrome semapv:MappingInversion +MONDO:0010983 dystonia 9 skos:closeMatch NANDO:1200520 Dystonia 9 semapv:MappingInversion +MONDO:0011014 pleuropulmonary blastoma skos:closeMatch NANDO:2200080 Pleuropulmonaryblastoma semapv:MappingInversion +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss semapv:MappingInversion +MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch NANDO:1200115 Hyaluronidase deficiency semapv:MappingInversion +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome semapv:MappingInversion +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome semapv:MappingInversion +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch NANDO:1200579 18q-syndrome semapv:MappingInversion +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch NANDO:2201291 18q-syndrome semapv:MappingInversion +MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 semapv:MappingInversion +MONDO:0011200 torsion dystonia 7 skos:closeMatch NANDO:1200518 Dystonia 7 semapv:MappingInversion +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 semapv:MappingInversion +MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:closeMatch NANDO:1200371 Ossification of posterior longitudinal ligament semapv:MappingInversion +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch NANDO:2200823 Megalencephaly-capillary malformation syndrome semapv:MappingInversion +MONDO:0011264 torsion dystonia 6 skos:closeMatch NANDO:1200517 Dystonia 6 semapv:MappingInversion +MONDO:0011269 psoriasis 2 skos:closeMatch NANDO:2200443 CARD14 deficiency semapv:MappingInversion +MONDO:0011273 H syndrome skos:closeMatch NANDO:2200457 SLC29A3 deficiency semapv:MappingInversion +MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch NANDO:1201056 End-plate acetylcholine esterase deficiency semapv:MappingInversion +MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch NANDO:1201076 Pseudohypoparathyroidism type 1B semapv:MappingInversion +MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch NANDO:1200980 Adult-onset type II citrullinemia semapv:MappingInversion +MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch NANDO:2200730 Syntaxin 11 deficiency semapv:MappingInversion +MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch NANDO:2200728 Perforin deficiency semapv:MappingInversion +MONDO:0011338 Omenn syndrome skos:closeMatch NANDO:1200324 Omenn syndrome semapv:MappingInversion +MONDO:0011338 Omenn syndrome skos:closeMatch NANDO:2200697 Omenn syndrome semapv:MappingInversion +MONDO:0011340 congenital tracheal stenosis skos:closeMatch NANDO:1201003 Congenital tracheal stenosis semapv:MappingInversion +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch NANDO:1200681 Young-Simpson syndrome semapv:MappingInversion +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch NANDO:2200982 Young-Simpson syndrome semapv:MappingInversion +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter skos:closeMatch NANDO:1200951 Vanishing white matter disease semapv:MappingInversion +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter skos:closeMatch NANDO:2200838 Vanishing white matter disease semapv:MappingInversion +MONDO:0011382 sickle cell anemia skos:closeMatch NANDO:2200624 Sickle cell disease semapv:MappingInversion +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts semapv:MappingInversion +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts semapv:MappingInversion +MONDO:0011399 alpha thalassemia skos:closeMatch NANDO:2201273 α-thalassemia semapv:MappingInversion +MONDO:0011405 poikiloderma with neutropenia skos:closeMatch NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome semapv:MappingInversion +MONDO:0011426 aceruloplasminemia skos:closeMatch NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 semapv:MappingInversion +MONDO:0011426 aceruloplasminemia skos:closeMatch NANDO:2200582 Aceruloplasminemia semapv:MappingInversion +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch NANDO:1200469 Juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch NANDO:2200415 Juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0011449 Salla disease skos:closeMatch NANDO:1200149 Salla disease semapv:MappingInversion +MONDO:0011449 Salla disease skos:closeMatch NANDO:1200582 Salla disease semapv:MappingInversion +MONDO:0011449 Salla disease skos:closeMatch NANDO:2201294 Salla disease semapv:MappingInversion +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch NANDO:2200651 Congenital amegakaryocytic thrombocytopenia semapv:MappingInversion +MONDO:0011476 MHC class I deficiency skos:closeMatch NANDO:1200328 MHC class I deficiency semapv:MappingInversion +MONDO:0011476 MHC class I deficiency skos:closeMatch NANDO:2200701 MHC class I deficiency semapv:MappingInversion +MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:closeMatch NANDO:1200706 Tricuspid atresia semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:closeMatch NANDO:1200962 Congenital tricuspid stenosis semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:closeMatch NANDO:2100073 Tricuspid atresia semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:closeMatch NANDO:2200251 Tricuspid atresia semapv:MappingInversion +MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:closeMatch NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis semapv:MappingInversion +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency semapv:MappingInversion +MONDO:0011603 GNE myopathy skos:closeMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion +MONDO:0011612 glycine encephalopathy skos:closeMatch NANDO:1200984 Nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0011612 glycine encephalopathy skos:closeMatch NANDO:2200476 Nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:MappingInversion +MONDO:0011628 propionic acidemia skos:closeMatch NANDO:1200792 Propionic acidemia semapv:MappingInversion +MONDO:0011628 propionic acidemia skos:closeMatch NANDO:2200492 Propionic acidemia semapv:MappingInversion +MONDO:0011638 neuroferritinopathy skos:closeMatch NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 semapv:MappingInversion +MONDO:0011638 neuroferritinopathy skos:closeMatch NANDO:1200542 Neuroferritinopathy semapv:MappingInversion +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NANDO:2200063 Alveolar soft part sarcoma semapv:MappingInversion +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:MappingInversion +MONDO:0011667 maturity-onset diabetes of the young type 4 skos:closeMatch NANDO:2201072 Maturity-onset diabetes of the young type 4 semapv:MappingInversion +MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch NANDO:1200430 Lymphangioleiomyomatosis semapv:MappingInversion +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch NANDO:1200799 Glucose transporter 1 deficiency semapv:MappingInversion +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch NANDO:2200545 Glucose transporter 1 deficiency semapv:MappingInversion +MONDO:0011730 fumaric aciduria skos:closeMatch NANDO:2200520 Fumarase deficiency semapv:MappingInversion +MONDO:0011731 glucose-galactose malabsorption skos:closeMatch NANDO:2200909 Glucose-galactose malabsorption semapv:MappingInversion +MONDO:0011758 Hurler syndrome skos:closeMatch NANDO:1200094 Hurler syndrome semapv:MappingInversion +MONDO:0011758 Hurler syndrome skos:closeMatch NANDO:2201168 Hurler Disease semapv:MappingInversion +MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch NANDO:1200096 Hurler-Scheie syndrome semapv:MappingInversion +MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch NANDO:2201170 Hurler-Scheie disease semapv:MappingInversion +MONDO:0011760 Scheie syndrome skos:closeMatch NANDO:1200095 Scheie syndrome semapv:MappingInversion +MONDO:0011760 Scheie syndrome skos:closeMatch NANDO:2201169 Scheie disease semapv:MappingInversion +MONDO:0011776 CINCA syndrome skos:closeMatch NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome semapv:MappingInversion +MONDO:0011776 CINCA syndrome skos:closeMatch NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome semapv:MappingInversion +MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch NANDO:2200740 Caspase-8 deficiency semapv:MappingInversion +MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch NANDO:1200409 MRAP deficiency semapv:MappingInversion +MONDO:0011827 patent ductus arteriosus skos:closeMatch NANDO:2100084 Patent ductus arteriosus semapv:MappingInversion +MONDO:0011827 patent ductus arteriosus skos:closeMatch NANDO:2200264 Patent ductus arteriosus semapv:MappingInversion +MONDO:0011844 myoclonic dystonia 15 skos:closeMatch NANDO:1200528 Dystonia 15 semapv:MappingInversion +MONDO:0011849 psoriatic arthritis skos:closeMatch NANDO:2201059 Psoriatic juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0011871 Niemann-Pick disease type B skos:closeMatch NANDO:1200062 Niemann-Pick disease type B semapv:MappingInversion +MONDO:0011871 Niemann-Pick disease type B skos:closeMatch NANDO:2201207 Niemann-Pick disease type B semapv:MappingInversion +MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch NANDO:2200732 Griscelli syndrome type 2 semapv:MappingInversion +MONDO:0011886 torsion dystonia 13 skos:closeMatch NANDO:1200527 Dystonia 13 semapv:MappingInversion +MONDO:0011888 immunodeficiency 67 skos:closeMatch NANDO:1200361 IRAK4 deficiency semapv:MappingInversion +MONDO:0011888 immunodeficiency 67 skos:closeMatch NANDO:2200762 IRAK4 deficiency semapv:MappingInversion +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome semapv:MappingInversion +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome semapv:MappingInversion +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch NANDO:2200014 Chronic myelomonocytic leukemia semapv:MappingInversion +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch NANDO:2200015 Juvenile myelomonocytic leukemia semapv:MappingInversion +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch NANDO:2200861 Merosin-deficient congenital muscular dystrophy semapv:MappingInversion +MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch NANDO:1200682 1p36 deletion syndrome semapv:MappingInversion +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation semapv:MappingInversion +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch NANDO:1200685 Paternal uniparental disomy of chromosome 14 semapv:MappingInversion +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch NANDO:2200013 Chronic myeloid leukemia semapv:MappingInversion +MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch NANDO:2200733 Hermansky-Pudlak syndrome type 2 semapv:MappingInversion +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency semapv:MappingInversion +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency semapv:MappingInversion +MONDO:0012104 acquired partial lipodystrophy skos:closeMatch NANDO:1200862 Acquired partial lipodystrophy semapv:MappingInversion +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch NANDO:1200263 Granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch NANDO:1201009 Systemic granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch NANDO:2200424 Granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch NANDO:1200373 Idiopathic osteonecrosis of femoral head semapv:MappingInversion +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch NANDO:2200729 UNC13D/Munc13-4 deficiency semapv:MappingInversion +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch NANDO:1200326 CD8 deficiency semapv:MappingInversion +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch NANDO:2200699 CD8 deficiency semapv:MappingInversion +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NANDO:1200974 Trifunctional protein deficiency semapv:MappingInversion +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NANDO:2200515 Trifunctional protein deficiency semapv:MappingInversion +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NANDO:2201147 Presymptomatic trifunctional protein deficiency semapv:MappingInversion +MONDO:0012176 Emanuel syndrome skos:closeMatch NANDO:1200689 Emanuel syndrome semapv:MappingInversion +MONDO:0012184 Pierson syndrome skos:closeMatch NANDO:2200117 Pierson syndrome semapv:MappingInversion +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch NANDO:1200296 Idiopathic aplastic anemia semapv:MappingInversion +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch NANDO:2201276 Idiopathic aplastic anemia semapv:MappingInversion +MONDO:0012198 PCWH syndrome skos:closeMatch NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease semapv:MappingInversion +MONDO:0012198 PCWH syndrome skos:closeMatch NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease semapv:MappingInversion +MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:MappingInversion +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch NANDO:1200135 Schindler disease type I semapv:MappingInversion +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch NANDO:1200136 Schindler disease type 2 semapv:MappingInversion +MONDO:0012268 AIDS skos:closeMatch NANDO:2100212 Acquired immune deficiency syndrome semapv:MappingInversion +MONDO:0012268 AIDS skos:closeMatch NANDO:2200809 Acquired immune deficiency syndrome semapv:MappingInversion +MONDO:0012295 complement component 5 deficiency skos:closeMatch NANDO:2200783 C5 deficiency semapv:MappingInversion +MONDO:0012316 Majeed syndrome skos:closeMatch NANDO:2200453 Majeed syndrome semapv:MappingInversion +MONDO:0012350 complement factor H deficiency skos:closeMatch NANDO:2200791 Factor H deficiency semapv:MappingInversion +MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch NANDO:2200669 ADP receptor deficiencies semapv:MappingInversion +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch NANDO:2200771 MCM4 mutation semapv:MappingInversion +MONDO:0012412 complement component 7 deficiency skos:closeMatch NANDO:2200785 C7 deficiency semapv:MappingInversion +MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:closeMatch NANDO:2200894 Aicardi-Goutieres syndrome 2 semapv:MappingInversion +MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B semapv:MappingInversion +MONDO:0012455 Kleefstra syndrome skos:closeMatch NANDO:1200959 9q34 deletion syndrome semapv:MappingInversion +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency semapv:MappingInversion +MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:closeMatch NANDO:2200895 Aicardi-Goutieres syndrome 3 semapv:MappingInversion +MONDO:0012481 mevalonic aciduria skos:closeMatch NANDO:1200866 Hyper IgD syndrome semapv:MappingInversion +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch NANDO:1200584 Hypomyelination and congenital cataract semapv:MappingInversion +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch NANDO:2201296 Hypomyelination and congenital cataract semapv:MappingInversion +MONDO:0012521 herpes simplex encephalitis skos:closeMatch NANDO:2200772 Herpes simplex encephalitis semapv:MappingInversion +MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch NANDO:2200752 P14 deficiency semapv:MappingInversion +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch NANDO:1200747 Autoimmune pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch NANDO:1200748 Idiopathic pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch NANDO:1200746 Pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch NANDO:1200750 Congenital alveolar proteinosis semapv:MappingInversion +MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch NANDO:2200200 Congenital alveolar proteinosis semapv:MappingInversion +MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 skos:closeMatch NANDO:2200801 CD21 deficiency semapv:MappingInversion +MONDO:0012594 complement factor I deficiency skos:closeMatch NANDO:2200790 Factor I deficiency semapv:MappingInversion +MONDO:0012594 complement factor I deficiency skos:closeMatch NANDO:2200798 Factor I deficiency semapv:MappingInversion +MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch NANDO:1200532 Dystonia 19 semapv:MappingInversion +MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch NANDO:1200533 Dystonia 20 semapv:MappingInversion +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch NANDO:2201152 Glycogen storage disease type 0b semapv:MappingInversion +MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch NANDO:2200449 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch NANDO:2200454 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch NANDO:2200134 Lipoprotein glomerulopathy semapv:MappingInversion +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch NANDO:1200834 Glycogen storage diseases type XII semapv:MappingInversion +MONDO:0012764 RIDDLE syndrome skos:closeMatch NANDO:1200336 RIDDLE syndrome semapv:MappingInversion +MONDO:0012764 RIDDLE syndrome skos:closeMatch NANDO:2200710 RIDDLE syndrome semapv:MappingInversion +MONDO:0012789 dystonia 16 skos:closeMatch NANDO:1200529 Dystonia 16 semapv:MappingInversion +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch NANDO:1200531 Dystonia 18 semapv:MappingInversion +MONDO:0012817 Ewing sarcoma skos:closeMatch NANDO:2200053 Ewing's sarcoma semapv:MappingInversion +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch NANDO:1200581 Mitochondrial Hsp60 chaperonopathy semapv:MappingInversion +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch NANDO:2201293 Mitochondrial Hsp60 chaperonopathy semapv:MappingInversion +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch NANDO:1200362 MyD88 deficiency semapv:MappingInversion +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch NANDO:2200763 MyD88 deficiency semapv:MappingInversion +MONDO:0012858 primary CD59 deficiency skos:closeMatch NANDO:2200804 Primary CD59 deficiency semapv:MappingInversion +MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration semapv:MappingInversion +MONDO:0012883 acute promyelocytic leukemia skos:closeMatch NANDO:2200007 Acute promyelocytic leukemia semapv:MappingInversion +MONDO:0012895 torsion dystonia 17 skos:closeMatch NANDO:1200530 Dystonia 17 semapv:MappingInversion +MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch NANDO:2200684 Congenital prekallikrein deficiency semapv:MappingInversion +MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum semapv:MappingInversion +MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum semapv:MappingInversion +MONDO:0012908 complement component 6 deficiency skos:closeMatch NANDO:2200784 C6 deficiency semapv:MappingInversion +MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch NANDO:1201077 Pseudohypoparathyroidism type 1C semapv:MappingInversion +MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch NANDO:2200348 Pseudopseudohypoparathyroidism semapv:MappingInversion +MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch NANDO:2200448 IL-10RB deficiency semapv:MappingInversion +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch NANDO:1200982 Sepiapterin reductase deficiency semapv:MappingInversion +MONDO:0012996 AGAT deficiency skos:closeMatch NANDO:1201033 Arginine:glycine amidinotransferase deficiency semapv:MappingInversion +MONDO:0012996 AGAT deficiency skos:closeMatch NANDO:2201299 AGAT deficiency semapv:MappingInversion +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch NANDO:1201034 Guanidinoacetate methyltransferase deficiency semapv:MappingInversion +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch NANDO:2201300 GAMT deficiency semapv:MappingInversion +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist semapv:MappingInversion +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch NANDO:1200429 Chronic thromboembolic pulmonary hypertension semapv:MappingInversion +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch NANDO:2200803 CD46 deficiency semapv:MappingInversion +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch NANDO:1200835 Glycogen storage diseases type XIII semapv:MappingInversion +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch NANDO:1200833 Glycogen storage diseases type XI semapv:MappingInversion +MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:closeMatch NANDO:2200897 Aicardi-Goutieres syndrome 5 semapv:MappingInversion +MONDO:0013066 46,XY sex reversal 3 skos:closeMatch NANDO:1200405 SF-1 abnormality semapv:MappingInversion +MONDO:0013081 lymphoproliferative syndrome 1 skos:closeMatch NANDO:2200734 IL-2-inducible T-cell kinase deficiency semapv:MappingInversion +MONDO:0013091 glycogen storage disease IXc skos:closeMatch NANDO:1200849 Hepatic glycogen storage disease type IXc semapv:MappingInversion +MONDO:0013091 glycogen storage disease IXc skos:closeMatch NANDO:2201166 Glycogen storage disease type IXc semapv:MappingInversion +MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:closeMatch NANDO:2200731 STXBP2/Munc18-2 deficiency semapv:MappingInversion +MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related skos:closeMatch NANDO:2200667 β-1 tubulin disorders semapv:MappingInversion +MONDO:0013153 inflammatory bowel disease 28 skos:closeMatch NANDO:2200447 IL-10RA deficiency semapv:MappingInversion +MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency semapv:MappingInversion +MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch NANDO:1200325 Purine nucleoside phosphorylase deficiency semapv:MappingInversion +MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch NANDO:2200698 Purine nucleoside phosphorylase deficiency semapv:MappingInversion +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch NANDO:2200866 LMNA-related congenital muscular dystrophy semapv:MappingInversion +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency semapv:MappingInversion +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:MappingInversion +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NANDO:1200755 Alpha-1-antitrypsin deficiency semapv:MappingInversion +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NANDO:2100174 Alpha-1-antitrypsin deficiency semapv:MappingInversion +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NANDO:2200611 Alpha-1-antitrypsin deficiency semapv:MappingInversion +MONDO:0013291 glycogen storage disease XV skos:closeMatch NANDO:1200837 Glycogen storage diseases type XV semapv:MappingInversion +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch NANDO:1200402 P450 oxidoreductase deficiency semapv:MappingInversion +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch NANDO:2200375 P450 oxidoreductase deficiency semapv:MappingInversion +MONDO:0013316 occult macular dystrophy skos:closeMatch NANDO:1200934 Occult macular dystrophy semapv:MappingInversion +MONDO:0013343 C1Q deficiency skos:closeMatch NANDO:2200777 C1q deficiency semapv:MappingInversion +MONDO:0013361 congenital prothrombin deficiency skos:closeMatch NANDO:2200673 Hypoprothrombinemia semapv:MappingInversion +MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch NANDO:1200767 Sterol carrier protein 2 deficiency semapv:MappingInversion +MONDO:0013408 FADD-related immunodeficiency skos:closeMatch NANDO:2200741 Fas-associated death domain protein deficiency semapv:MappingInversion +MONDO:0013417 complement component 3 deficiency skos:closeMatch NANDO:2200782 C3 deficiency semapv:MappingInversion +MONDO:0013419 complement component C1s deficiency skos:closeMatch NANDO:2200779 C1s deficiency semapv:MappingInversion +MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch NANDO:2200793 MASP2 deficiency semapv:MappingInversion +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch NANDO:1200440 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch NANDO:2100265 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0013445 complement component 9 deficiency skos:closeMatch NANDO:2200787 C9 deficiency semapv:MappingInversion +MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch NANDO:2200794 Ficolin 3 Deficiency semapv:MappingInversion +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch NANDO:2200788 Factor D deficiency semapv:MappingInversion +MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:closeMatch NANDO:2201283 p40phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0013571 acatalasia skos:closeMatch NANDO:1200774 Acatalasemia semapv:MappingInversion +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch NANDO:2200719 Isolated IgG subclass deficiency semapv:MappingInversion +MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch NANDO:1200048 Spinocerebellar ataxia type 36 semapv:MappingInversion +MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch NANDO:2200670 Abnormalities in platelet collagen receptors semapv:MappingInversion +MONDO:0013626 psoriasis 14, pustular skos:closeMatch NANDO:1200244 Acrodermatitis continua of Hallopeau semapv:MappingInversion +MONDO:0013626 psoriasis 14, pustular skos:closeMatch NANDO:2200452 IL36RN deficiency semapv:MappingInversion +MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 semapv:MappingInversion +MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:closeMatch NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency semapv:MappingInversion +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch NANDO:2200912 Lipase deficiency semapv:MappingInversion +MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation semapv:MappingInversion +MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch NANDO:1200301 Borderline between aplastic anemia and MDS semapv:MappingInversion +MONDO:0013862 immunodeficiency, common variable, 7 skos:closeMatch NANDO:2200801 CD21 deficiency semapv:MappingInversion +MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch NANDO:2200587 Adenine phosphoribosyltransferase deficiency semapv:MappingInversion +MONDO:0013873 IMAGe syndrome skos:closeMatch NANDO:1200406 IMAge syndrome semapv:MappingInversion +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation semapv:MappingInversion +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch NANDO:2200451 PLCg2 deficiency semapv:MappingInversion +MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch NANDO:1200836 Glycogen storage diseases type XIV semapv:MappingInversion +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch NANDO:1200726 Primary membranoproliferative glomerulonephritis type I semapv:MappingInversion +MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:closeMatch NANDO:2200898 Aicardi-Goutieres syndrome 6 semapv:MappingInversion +MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch NANDO:2200665 ACTN1 mutations semapv:MappingInversion +MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 semapv:MappingInversion +MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 skos:closeMatch NANDO:2200743 PKC-δ deficiency semapv:MappingInversion +MONDO:0014255 complement factor b deficiency skos:closeMatch NANDO:2200797 Factor B deficiency semapv:MappingInversion +MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch NANDO:1200995 Adenosine deaminase 2 deficiency semapv:MappingInversion +MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch NANDO:2200441 Adenosine deaminase 2 deficiency semapv:MappingInversion +MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch NANDO:2200450 Deficiency of the enzyme ADA2 semapv:MappingInversion +MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 semapv:MappingInversion +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure semapv:MappingInversion +MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch NANDO:2200766 HOIL-1 deficiency semapv:MappingInversion +MONDO:0014421 glucocorticoid resistance skos:closeMatch NANDO:2200358 Glucocorticoid resistance semapv:MappingInversion +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch NANDO:1200994 NLRC4 mutation semapv:MappingInversion +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch NANDO:2200459 NLRC4 mutation semapv:MappingInversion +MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:closeMatch NANDO:2200770 STAT2 deficiency semapv:MappingInversion +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch NANDO:2200985 Takenouchi-Kosaki syndrome semapv:MappingInversion +MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 semapv:MappingInversion +MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:closeMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion +MONDO:0015075 thyroid gland carcinoma skos:closeMatch NANDO:2200074 Thyroid cancer semapv:MappingInversion +MONDO:0015104 porphyria cutanea tarda skos:closeMatch NANDO:1200816 Porphyria cutanea tarda semapv:MappingInversion +MONDO:0015104 porphyria cutanea tarda skos:closeMatch NANDO:2201267 Porphyria cutanea tarda semapv:MappingInversion +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch NANDO:1200411 Addison's disease semapv:MappingInversion +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch NANDO:2200359 Other chronic adrenal insufficiency semapv:MappingInversion +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch NANDO:2200360 Addison's disease semapv:MappingInversion +MONDO:0015131 combined immunodeficiency skos:closeMatch NANDO:2100203 Combined immunodeficiency semapv:MappingInversion +MONDO:0015146 classic lissencephaly skos:closeMatch NANDO:1201068 Agyria semapv:MappingInversion +MONDO:0015146 classic lissencephaly skos:closeMatch NANDO:1201069 Pachygyria semapv:MappingInversion +MONDO:0015149 pure hereditary spastic paraplegia skos:closeMatch NANDO:1200053 Pure hereditary spastic paraplegia semapv:MappingInversion +MONDO:0015150 complex hereditary spastic paraplegia skos:closeMatch NANDO:1200054 Complex hereditary spastic paraplegia semapv:MappingInversion +MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:closeMatch NANDO:2200911 Amylase deficiency semapv:MappingInversion +MONDO:0015175 autoimmune pancreatitis skos:closeMatch NANDO:1200925 Autoimmune pancreatitis semapv:MappingInversion +MONDO:0015175 autoimmune pancreatitis skos:closeMatch NANDO:2200943 Autoimmune pancreatitis semapv:MappingInversion +MONDO:0015183 short bowel syndrome skos:closeMatch NANDO:2100274 Short bowel syndrome semapv:MappingInversion +MONDO:0015183 short bowel syndrome skos:closeMatch NANDO:2200944 Short bowel syndrome semapv:MappingInversion +MONDO:0015194 sideroblastic anemia skos:closeMatch NANDO:2100179 Sideroblastic anemia semapv:MappingInversion +MONDO:0015194 sideroblastic anemia skos:closeMatch NANDO:2200616 Sideroblastic anemia semapv:MappingInversion +MONDO:0015197 aneurysm of sinus of Valsalva skos:closeMatch NANDO:2200293 Aneurysm of sinus valsalva semapv:MappingInversion +MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch NANDO:2200414 Bardet-Biedl syndrome semapv:MappingInversion +MONDO:0015231 Bartter syndrome skos:closeMatch NANDO:2100021 Bartter syndrome semapv:MappingInversion +MONDO:0015231 Bartter syndrome skos:closeMatch NANDO:2200146 Bartter syndrome semapv:MappingInversion +MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch NANDO:1200890 Diamond-Blackfan anemia semapv:MappingInversion +MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch NANDO:2200614 Congenital red cell aplasia semapv:MappingInversion +MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch NANDO:1200421 Cryptogenic organizing pneumonia semapv:MappingInversion +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NANDO:1200745 Bronchiolitis obliterans semapv:MappingInversion +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NANDO:2100039 Bronchiolitis obliterans semapv:MappingInversion +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NANDO:2200209 Bronchiolitis obliterans semapv:MappingInversion +MONDO:0015268 medullary sponge kidney skos:closeMatch NANDO:2200173 Medullary sponge kidney semapv:MappingInversion +MONDO:0015273 complete atrioventricular canal skos:closeMatch NANDO:2100086 Complete atrioventricular septal defect semapv:MappingInversion +MONDO:0015273 complete atrioventricular canal skos:closeMatch NANDO:2200269 Complete atrioventricular septal defect semapv:MappingInversion +MONDO:0015275 partial atrioventricular canal skos:closeMatch NANDO:2200268 Incomplete atrioventricular septal defect semapv:MappingInversion +MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch NANDO:2201054 Medullary thyroid carcinoma semapv:MappingInversion +MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch NANDO:1200363 Chronic mucocutaneous candidiasis semapv:MappingInversion +MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch NANDO:2200764 Chronic mucocutaneous candidiasis semapv:MappingInversion +MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch NANDO:1200462 CFC Syndrome semapv:MappingInversion +MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch NANDO:2200967 CFC Syndrome semapv:MappingInversion +MONDO:0015285 Carney complex skos:closeMatch NANDO:1200756 Carney complex semapv:MappingInversion +MONDO:0015333 progeroid syndrome skos:closeMatch NANDO:2100221 Progeroid syndromes semapv:MappingInversion +MONDO:0015337 isolated craniosynostosis skos:closeMatch NANDO:2200843 Non-syndromic craniosynostosis semapv:MappingInversion +MONDO:0015339 adrenomyeloneuropathy skos:closeMatch NANDO:1200168 Adrenomyeloneuropathy semapv:MappingInversion +MONDO:0015339 adrenomyeloneuropathy skos:closeMatch NANDO:2201248 Adrenomyeloneuropathy semapv:MappingInversion +MONDO:0015358 hereditary motor and sensory neuropathy skos:closeMatch NANDO:2200855 Hereditary Motor and Sensory Neuropathy semapv:MappingInversion +MONDO:0015369 Joubert syndrome and related disorders skos:closeMatch NANDO:1200661 Joubert syndrome and related disorders semapv:MappingInversion +MONDO:0015369 Joubert syndrome and related disorders skos:closeMatch NANDO:2100218 Joubert syndrome related disorders semapv:MappingInversion +MONDO:0015369 Joubert syndrome and related disorders skos:closeMatch NANDO:2200824 Joubert syndrome related disorders semapv:MappingInversion +MONDO:0015375 orofaciodigital syndrome skos:closeMatch NANDO:1201051 Oral-facial-digital syndrome semapv:MappingInversion +MONDO:0015395 congenital subglottic stenosis skos:closeMatch NANDO:1201004 Congenital subglottic stenosis semapv:MappingInversion +MONDO:0015395 congenital subglottic stenosis skos:closeMatch NANDO:2200190 Laryngeal stenosis semapv:MappingInversion +MONDO:0015408 diffuse lymphatic malformation skos:closeMatch NANDO:1200879 obsolete Lymphangiomatosis semapv:MappingInversion +MONDO:0015408 diffuse lymphatic malformation skos:closeMatch NANDO:2201033 Lymphangiomatosis semapv:MappingInversion +MONDO:0015436 ring chromosome 20 skos:closeMatch NANDO:1200597 Ring chromosome 20 syndrome semapv:MappingInversion +MONDO:0015446 atypical coarctation of aorta skos:closeMatch NANDO:2200284 Coarctation complex semapv:MappingInversion +MONDO:0015450 triatrial heart skos:closeMatch NANDO:2100083 Cor triatriatum semapv:MappingInversion +MONDO:0015450 triatrial heart skos:closeMatch NANDO:2200263 Cor triatriatum semapv:MappingInversion +MONDO:0015451 univentricular heart skos:closeMatch NANDO:1200704 Single ventricle semapv:MappingInversion +MONDO:0015451 univentricular heart skos:closeMatch NANDO:2200250 Single ventricle semapv:MappingInversion +MONDO:0015452 Coffin-Siris syndrome skos:closeMatch NANDO:1200670 Coffin-Siris syndrome semapv:MappingInversion +MONDO:0015452 Coffin-Siris syndrome skos:closeMatch NANDO:2200977 Coffin-Siris syndrome semapv:MappingInversion +MONDO:0015454 multiple carboxylase deficiency skos:closeMatch NANDO:1200820 Multiple carboxylase deficiency semapv:MappingInversion +MONDO:0015454 multiple carboxylase deficiency skos:closeMatch NANDO:2200500 Multiple carboxylase deficiency semapv:MappingInversion +MONDO:0015465 craniometaphyseal dysplasia skos:closeMatch NANDO:2201366 Craniometaphyseal dysplasia semapv:MappingInversion +MONDO:0015469 craniosynostosis skos:closeMatch NANDO:2100227 Craniosynostosis semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch NANDO:1200971 Carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch NANDO:2200510 Carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0015517 common variable immunodeficiency skos:closeMatch NANDO:1200344 Common variable immunodeficiency semapv:MappingInversion +MONDO:0015517 common variable immunodeficiency skos:closeMatch NANDO:2200717 Common variable immunodeficiency semapv:MappingInversion +MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch NANDO:2100242 Infantile bilateral striatal necrosis semapv:MappingInversion +MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch NANDO:2200888 Infantile bilateral striatal necrosis semapv:MappingInversion +MONDO:0015534 juvenile xanthogranuloma skos:closeMatch NANDO:2200037 Juvenile xanthogranuloma semapv:MappingInversion +MONDO:0015540 hemophagocytic syndrome skos:closeMatch NANDO:2200032 Hemophagocytic lymphohistiocytosis semapv:MappingInversion +MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion +MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion +MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion +MONDO:0015610 acquired aplastic anemia skos:closeMatch NANDO:2201277 Secondary aplastic anemia semapv:MappingInversion +MONDO:0015611 neutral lipid storage disease skos:closeMatch NANDO:1200622 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0015611 neutral lipid storage disease skos:closeMatch NANDO:2200997 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch NANDO:1200016 Charcot-Marie-Tooth disease semapv:MappingInversion +MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch NANDO:2200855 Hereditary Motor and Sensory Neuropathy semapv:MappingInversion +MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:closeMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0015677 cardiac diverticulum skos:closeMatch NANDO:2200234 Aneurysm of ventricle semapv:MappingInversion +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch NANDO:2200805 Hyper eosinophilic syndrome semapv:MappingInversion +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch NANDO:2200806 Hypereosinophilic syndrome semapv:MappingInversion +MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells semapv:MappingInversion +MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells semapv:MappingInversion +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:closeMatch NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells semapv:MappingInversion +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:closeMatch NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells semapv:MappingInversion +MONDO:0015759 B-cell non-Hodgkin lymphoma skos:closeMatch NANDO:2200020 Mature B-cell lymphoma semapv:MappingInversion +MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch NANDO:1201042 Progressive familial intrahepatic cholestasis semapv:MappingInversion +MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch NANDO:2200933 Progressive familial intrahepatic cholestasis semapv:MappingInversion +MONDO:0015770 congenital hypogonadotropic hypogonadism skos:closeMatch NANDO:1200383 Congenital hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis skos:closeMatch NANDO:2200388 Mixed gonadal dysgenesis semapv:MappingInversion +MONDO:0015780 dyskeratosis congenita skos:closeMatch NANDO:1200304 Dyskeratosis congenita semapv:MappingInversion +MONDO:0015780 dyskeratosis congenita skos:closeMatch NANDO:1200342 Dyskeratosis congenita semapv:MappingInversion +MONDO:0015780 dyskeratosis congenita skos:closeMatch NANDO:2200715 Dyskeratosis congenita semapv:MappingInversion +MONDO:0015790 central diabetes insipidus skos:closeMatch NANDO:1200375 Central diabetes insipidus semapv:MappingInversion +MONDO:0015790 central diabetes insipidus skos:closeMatch NANDO:2200324 Central diabetes insipidus semapv:MappingInversion +MONDO:0015791 peripheral precocious puberty skos:closeMatch NANDO:2200378 Non-gonadotropin-dependent precocious puberty semapv:MappingInversion +MONDO:0015863 polyembryoma skos:closeMatch NANDO:2200068 Polyembryoma semapv:MappingInversion +MONDO:0015864 mixed germ cell tumor skos:closeMatch NANDO:2200071 Mixed germ cell tumour semapv:MappingInversion +MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch NANDO:2100114 Growth hormone insensitivity semapv:MappingInversion +MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch NANDO:2200321 Growth hormone insensitivity semapv:MappingInversion +MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:closeMatch NANDO:1200775 Hypoparathyroidism semapv:MappingInversion +MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:closeMatch NANDO:2100124 Hypoparathyroidism semapv:MappingInversion +MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:closeMatch NANDO:2200345 Hypoparathyroidism semapv:MappingInversion +MONDO:0015900 hypoaldosteronism disease skos:closeMatch NANDO:2100132 Hypoaldosteronism semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:closeMatch NANDO:1200295 Aplastic anemia semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:closeMatch NANDO:1200301 Borderline between aplastic anemia and MDS semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:closeMatch NANDO:2100201 Aplastic anemia semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:closeMatch NANDO:2200693 Aplastic anemia semapv:MappingInversion +MONDO:0015924 pulmonary arterial hypertension skos:closeMatch NANDO:1200425 Pulmonary arterial hypertension semapv:MappingInversion +MONDO:0015924 pulmonary arterial hypertension skos:closeMatch NANDO:2100103 Pulmonary arterial hypertension semapv:MappingInversion +MONDO:0015924 pulmonary arterial hypertension skos:closeMatch NANDO:2200298 Pulmonary arterial hypertension semapv:MappingInversion +MONDO:0015929 thoracic malformation skos:closeMatch NANDO:2201008 Thoracic insufficiency syndrome semapv:MappingInversion +MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch NANDO:1200264 Eosinophilic granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch NANDO:2200427 Eosinophilic granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0015947 inherited ichthyosis skos:closeMatch NANDO:1200609 Congenital ichthyosis semapv:MappingInversion +MONDO:0015947 inherited ichthyosis skos:closeMatch NANDO:2100283 Congenital ichthyosis semapv:MappingInversion +MONDO:0015988 multicystic dysplastic kidney skos:closeMatch NANDO:2200158 Multicystic dysplastic kidney semapv:MappingInversion +MONDO:0015993 cone-rod dystrophy skos:closeMatch NANDO:1200937 Cone-rod dystrophy semapv:MappingInversion +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0016006 Cockayne syndrome skos:closeMatch NANDO:1200677 Cockayne syndrome semapv:MappingInversion +MONDO:0016006 Cockayne syndrome skos:closeMatch NANDO:2200832 Cockayne syndrome semapv:MappingInversion +MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch NANDO:1200598 Rasmussen's encephalitis semapv:MappingInversion +MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch NANDO:2100246 Rasmussen's encephalitis semapv:MappingInversion +MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch NANDO:2200900 Rasmussen's encephalitis semapv:MappingInversion +MONDO:0016022 early myoclonic encephalopathy skos:closeMatch NANDO:1200594 Early myoclonic encephalopathy semapv:MappingInversion +MONDO:0016025 myoclonic-astatic epilepsy skos:closeMatch NANDO:1200590 Epilepsy with myoclonic atonic seizures semapv:MappingInversion +MONDO:0016030 Evans syndrome skos:closeMatch NANDO:1200310 Evans syndrome semapv:MappingInversion +MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch NANDO:1200960 Cornelia de lange syndrome semapv:MappingInversion +MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch NANDO:2200958 Cornelia de Lange syndrome semapv:MappingInversion +MONDO:0016054 cerebral malformation skos:closeMatch NANDO:2100217 Brain malformation semapv:MappingInversion +MONDO:0016063 Cowden disease skos:closeMatch NANDO:2200918 Cowden syndrome semapv:MappingInversion +MONDO:0016068 fibrochondrogenesis skos:closeMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion +MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200187 Sporadic Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0016081 coronary arterial fistulas skos:closeMatch NANDO:2200296 Coronary artery fistula semapv:MappingInversion +MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:closeMatch NANDO:2200586 Lesch-Nyhan syndrome semapv:MappingInversion +MONDO:0016089 infantile Krabbe disease skos:closeMatch NANDO:1200075 Infantile Krabbe disease semapv:MappingInversion +MONDO:0016089 infantile Krabbe disease skos:closeMatch NANDO:2201216 Infantile Krabbe disease semapv:MappingInversion +MONDO:0016091 adult Krabbe disease skos:closeMatch NANDO:1200077 Adult Krabbe disease semapv:MappingInversion +MONDO:0016091 adult Krabbe disease skos:closeMatch NANDO:2201219 Adult Krabbe disease semapv:MappingInversion +MONDO:0016107 myotonic dystrophy skos:closeMatch NANDO:1200495 Myotonic dystrophy semapv:MappingInversion +MONDO:0016107 myotonic dystrophy skos:closeMatch NANDO:2200864 Myotonic dystrophy semapv:MappingInversion +MONDO:0016110 obsolete non-dystrophic myopathy skos:closeMatch NANDO:1200496 Non-dystrophic myotonia semapv:MappingInversion +MONDO:0016113 bulbospinal muscular atrophy skos:closeMatch NANDO:1200001 Spinal and bulbar muscular atrophy semapv:MappingInversion +MONDO:0016118 obsolete muscular glycogenosis skos:closeMatch NANDO:1200823 Muscle glycogen storage disease semapv:MappingInversion +MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch NANDO:1200457 Eosinophilic gastroenteritis semapv:MappingInversion +MONDO:0016147 qualitative or quantitative defects of dystrophin skos:closeMatch NANDO:1200487 Dystrophinopathies semapv:MappingInversion +MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch NANDO:1200465 Cryopyrin-associated periodic syndrome semapv:MappingInversion +MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch NANDO:2200432 Cryopyrin-associated periodic syndrome semapv:MappingInversion +MONDO:0016233 obsolete rare lymphatic system malformation skos:closeMatch NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) semapv:MappingInversion +MONDO:0016239 cystinosis skos:closeMatch NANDO:1200161 Cystinosis semapv:MappingInversion +MONDO:0016239 cystinosis skos:closeMatch NANDO:2200571 Cystinosis semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:1200403 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:1200525 Alternating hemiplegia of childhood semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:2100239 Alternating hemiplegia of childhood semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:2200357 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:2200883 Alternating hemiplegia of childhood semapv:MappingInversion +MONDO:0016242 hemoglobin C disease skos:closeMatch NANDO:2200635 Hemoglobin C disease semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch NANDO:1200473 Atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch NANDO:1200474 Congenital atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch NANDO:2200131 Atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch NANDO:2200641 Atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016264 autoimmune hepatitis skos:closeMatch NANDO:1200441 Autoimmune hepatitis semapv:MappingInversion +MONDO:0016264 autoimmune hepatitis skos:closeMatch NANDO:1200442 Typical autoimmune hepatitis semapv:MappingInversion +MONDO:0016264 autoimmune hepatitis skos:closeMatch NANDO:2100264 Autoimmune hepatitis semapv:MappingInversion +MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch NANDO:2200387 Ovotesticular dsd semapv:MappingInversion +MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200150 Neuronal ceroid-lipofuscinosis semapv:MappingInversion +MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2200573 Neuronal ceroid lipofuscinoses semapv:MappingInversion +MONDO:0016296 holoprosencephaly skos:closeMatch NANDO:2200819 Holoprosencephaly semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:1200699 Complete transposition of the great arteries semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:1200701 Complete transposition of the great arteries (Group2) semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:1200703 Complete transposition of the great arteries (Group4) semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:2100079 Congenitally corrected transposition of the great arteries semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:2200259 Congenitally corrected transposition of the great arteries semapv:MappingInversion +MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation skos:closeMatch NANDO:1200701 Complete transposition of the great arteries (Group2) semapv:MappingInversion +MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:closeMatch NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration semapv:MappingInversion +MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:closeMatch NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration semapv:MappingInversion +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:closeMatch NANDO:1200065 Adult-onset Niemann-Pick disease type C semapv:MappingInversion +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:closeMatch NANDO:2201209 Adult-onset Niemann-Pick disease type C semapv:MappingInversion +MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:closeMatch NANDO:1200098 Hunter syndrome type A semapv:MappingInversion +MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:closeMatch NANDO:2201173 Mucopolysaccharidosis type II, severe form semapv:MappingInversion +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch NANDO:1200099 Hunter syndrome type B semapv:MappingInversion +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch NANDO:2201171 Mucopolysaccharidosis type II, attenuated form semapv:MappingInversion +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch NANDO:2201172 Mucopolysaccharidosis type II, intermediate form semapv:MappingInversion +MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch NANDO:1200205 Progressive multifocal leukoencephalopathy semapv:MappingInversion +MONDO:0016345 non-familial restrictive cardiomyopathy skos:closeMatch NANDO:1200294 Secondary restrictive cardiomyopathy semapv:MappingInversion +MONDO:0016349 congenital hydrocephalus skos:closeMatch NANDO:2200822 Congenital hydrocephalus semapv:MappingInversion +MONDO:0016356 diffuse cutaneous systemic sclerosis skos:closeMatch NANDO:1201010 Diffuse cutaneous systemic sclerosis semapv:MappingInversion +MONDO:0016358 limited cutaneous systemic sclerosis skos:closeMatch NANDO:1201011 Limited cutaneous systemic sclerosis semapv:MappingInversion +MONDO:0016367 dermatomyositis skos:closeMatch NANDO:1200274 Dermatomyositis semapv:MappingInversion +MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch NANDO:1200742 Congenital nephrogenic diabetes insipidus semapv:MappingInversion +MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch NANDO:2200326 Nephrogenic diabetes insipidus semapv:MappingInversion +MONDO:0016391 neonatal diabetes mellitus skos:closeMatch NANDO:2200463 Neonatal diabetes mellitus semapv:MappingInversion +MONDO:0016407 oligomeganephronia skos:closeMatch NANDO:2200159 Oligomeganephronia semapv:MappingInversion +MONDO:0016410 central congenital hypothyroidism skos:closeMatch NANDO:1200390 Thyroid-stimulating hormone deficiency semapv:MappingInversion +MONDO:0016410 central congenital hypothyroidism skos:closeMatch NANDO:2200332 Thyroid-stimulating hormone deficiency semapv:MappingInversion +MONDO:0016410 central congenital hypothyroidism skos:closeMatch NANDO:2200340 Central hypothyroidism semapv:MappingInversion +MONDO:0016418 multiple system atrophy, cerebellar type skos:closeMatch NANDO:1200035 Multiple system atrophy, cerebellar type semapv:MappingInversion +MONDO:0016430 Balo concentric sclerosis skos:closeMatch NANDO:1200028 Baló concentric sclerosis semapv:MappingInversion +MONDO:0016484 Usher syndrome type 2 skos:closeMatch NANDO:1200943 Usher syndrome Type II semapv:MappingInversion +MONDO:0016485 Usher syndrome type 3 skos:closeMatch NANDO:1200944 Usher syndrome Type III semapv:MappingInversion +MONDO:0016512 Kabuki syndrome skos:closeMatch NANDO:1200672 Kabuki syndrome semapv:MappingInversion +MONDO:0016512 Kabuki syndrome skos:closeMatch NANDO:2200956 Kabuki syndrome semapv:MappingInversion +MONDO:0016525 familial hyperaldosteronism skos:closeMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion +MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch NANDO:1200591 Lennox-Gastaut syndrome semapv:MappingInversion +MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch NANDO:2200879 Lennox-Gastaut syndrome semapv:MappingInversion +MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch NANDO:2201005 Anhidrotic ectodermal dysplasia semapv:MappingInversion +MONDO:0016536 autosomal recessive lymphoproliferative disease skos:closeMatch NANDO:2200735 CD27 deficiency semapv:MappingInversion +MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:closeMatch NANDO:2200446 IL10 deficiency semapv:MappingInversion +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch NANDO:1200786 Tetrahydrobiopterin deficiency semapv:MappingInversion +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch NANDO:2200594 Tetrahydrobiopterin deficiency semapv:MappingInversion +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch NANDO:2201076 BH4 deficiency semapv:MappingInversion +MONDO:0016575 primary ciliary dyskinesia skos:closeMatch NANDO:2100034 Primary ciliary dyskinesia semapv:MappingInversion +MONDO:0016575 primary ciliary dyskinesia skos:closeMatch NANDO:2200203 Primary ciliary dyskinesia semapv:MappingInversion +MONDO:0016575 primary ciliary dyskinesia skos:closeMatch NANDO:2200204 Kartagener syndrome semapv:MappingInversion +MONDO:0016581 conotruncal heart malformations skos:closeMatch NANDO:2200275 Double-chambered right ventricle semapv:MappingInversion +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia semapv:MappingInversion +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia semapv:MappingInversion +MONDO:0016594 superficial siderosis skos:closeMatch NANDO:1200543 Superficial siderosis semapv:MappingInversion +MONDO:0016597 obsolete generalized pustular psoriasis skos:closeMatch NANDO:1200240 Pustular psoriasis semapv:MappingInversion +MONDO:0016600 acute neonatal citrullinemia type I skos:closeMatch NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency semapv:MappingInversion +MONDO:0016601 adult-onset citrullinemia type I skos:closeMatch NANDO:2201095 Late-onset argininosuccinate synthetase deficiency semapv:MappingInversion +MONDO:0016602 citrin deficiency skos:closeMatch NANDO:1200978 Citrin deficiency semapv:MappingInversion +MONDO:0016602 citrin deficiency skos:closeMatch NANDO:2200483 Citrin deficiency semapv:MappingInversion +MONDO:0016603 citrullinemia type II skos:closeMatch NANDO:1200980 Adult-onset type II citrullinemia semapv:MappingInversion +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch NANDO:1200642 Pachydermoperiostosis semapv:MappingInversion +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch NANDO:2100288 Pachydermoperiostosis semapv:MappingInversion +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch NANDO:2201004 Pachydermoperiostosis semapv:MappingInversion +MONDO:0016642 meningioma skos:closeMatch NANDO:2200094 Meningioma semapv:MappingInversion +MONDO:0016684 anaplastic astrocytoma skos:closeMatch NANDO:2200086 Anaplastic astrocytoma semapv:MappingInversion +MONDO:0016686 diffuse astrocytoma skos:closeMatch NANDO:2200085 Diffuse astrocytoma semapv:MappingInversion +MONDO:0016691 pilocytic astrocytoma skos:closeMatch NANDO:2200084 Pilocytic astrocytoma semapv:MappingInversion +MONDO:0016695 oligodendroglioma skos:closeMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion +MONDO:0016698 ependymoma skos:closeMatch NANDO:2200088 Ependymoma semapv:MappingInversion +MONDO:0016723 pineocytoma skos:closeMatch NANDO:2200092 Pineocytoma semapv:MappingInversion +MONDO:0016730 gangliocytoma skos:closeMatch NANDO:2200097 Gangliocytoma semapv:MappingInversion +MONDO:0016733 ganglioglioma skos:closeMatch NANDO:2200096 Ganglioglioma semapv:MappingInversion +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:closeMatch NANDO:2200524 Diseases due to mitochondrial DNA mutation semapv:MappingInversion +MONDO:0016812 dopa-responsive dystonia skos:closeMatch NANDO:1200516 Dystonia 5 semapv:MappingInversion +MONDO:0016812 dopa-responsive dystonia skos:closeMatch NANDO:2200885 Segawa syndrome semapv:MappingInversion +MONDO:0016820 Moyamoya disease skos:closeMatch NANDO:1200183 Moyamoya disease semapv:MappingInversion +MONDO:0016820 Moyamoya disease skos:closeMatch NANDO:2100228 Moyamoya disease semapv:MappingInversion +MONDO:0016820 Moyamoya disease skos:closeMatch NANDO:2200850 Moyamoya disease semapv:MappingInversion +MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch NANDO:1200492 Emery-Dreifuss muscular dystrophy semapv:MappingInversion +MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch NANDO:2200857 Emery-Dreifuss muscular dystrophy semapv:MappingInversion +MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:closeMatch NANDO:1200958 Partial trisomy 1q semapv:MappingInversion +MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch NANDO:1200490 Limb-girdle muscular dystrophy semapv:MappingInversion +MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch NANDO:2200858 Limb-girdle muscular dystrophy semapv:MappingInversion +MONDO:0016987 neuroacanthocytosis skos:closeMatch NANDO:1200013 Neuroacanthocytosis semapv:MappingInversion +MONDO:0017025 Langerhans cell histiocytosis specific to childhood skos:closeMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion +MONDO:0017029 Langerhans cell histiocytosis specific to adulthood skos:closeMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion +MONDO:0017042 thanatophoric dysplasia skos:closeMatch NANDO:1200874 Thanatophoric dysplasia semapv:MappingInversion +MONDO:0017051 classic maple syrup urine disease skos:closeMatch NANDO:2201078 Classic form maple syrup urine disease semapv:MappingInversion +MONDO:0017052 intermediate maple syrup urine disease skos:closeMatch NANDO:2201079 Intermediate maple syrup urine disease semapv:MappingInversion +MONDO:0017053 intermittent maple syrup urine disease skos:closeMatch NANDO:2201080 Intermittent maple syrup urine disease semapv:MappingInversion +MONDO:0017054 thiamine-responsive maple syrup urine disease skos:closeMatch NANDO:2201081 Thiamine-responsive maple syrup urine disease semapv:MappingInversion +MONDO:0017069 spina bifida cystica skos:closeMatch NANDO:1200509 Myelomeningocele semapv:MappingInversion +MONDO:0017069 spina bifida cystica skos:closeMatch NANDO:2100215 Myelomeningocele semapv:MappingInversion +MONDO:0017069 spina bifida cystica skos:closeMatch NANDO:2200814 Myelomeningocele semapv:MappingInversion +MONDO:0017079 meningoencephalocele skos:closeMatch NANDO:2200813 Meningoencephalocele semapv:MappingInversion +MONDO:0017096 isolated focal cortical dysplasia type Ia skos:closeMatch NANDO:1200565 Focal cortical dysplasia type 1a semapv:MappingInversion +MONDO:0017097 isolated focal cortical dysplasia type Ib skos:closeMatch NANDO:1200566 Focal cortical dysplasia type 1b semapv:MappingInversion +MONDO:0017098 isolated focal cortical dysplasia type Ic skos:closeMatch NANDO:1200567 Focal cortical dysplasia type 1c semapv:MappingInversion +MONDO:0017101 isolated focal cortical dysplasia type IIa skos:closeMatch NANDO:1200568 Focal cortical dysplasia type 2a semapv:MappingInversion +MONDO:0017102 isolated focal cortical dysplasia type IIb skos:closeMatch NANDO:1200569 Focal cortical dysplasia type 2b semapv:MappingInversion +MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch NANDO:2201046 Idiopathic pulmonary arterial hypertension semapv:MappingInversion +MONDO:0017148 heritable pulmonary arterial hypertension skos:closeMatch NANDO:2201047 Familial pulmonary arterial hypertension semapv:MappingInversion +MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease skos:closeMatch NANDO:2201048 Secondary pulmonary arterial hypertension semapv:MappingInversion +MONDO:0017160 behavioral variant of frontotemporal dementia skos:closeMatch NANDO:1200549 Behavioral variant frontotemporal dementia semapv:MappingInversion +MONDO:0017169 multiple endocrine neoplasia skos:closeMatch NANDO:2100148 Multiple endocrine neoplasia semapv:MappingInversion +MONDO:0017182 familial hyperinsulinism skos:closeMatch NANDO:2100143 Hyperinsulinemic hypoglycemia semapv:MappingInversion +MONDO:0017182 familial hyperinsulinism skos:closeMatch NANDO:2200399 Congenital hyperinsulinemia semapv:MappingInversion +MONDO:0017198 osteopetrosis skos:closeMatch NANDO:1200998 Osteopetrosis semapv:MappingInversion +MONDO:0017198 osteopetrosis skos:closeMatch NANDO:2201013 Osteopetrosis semapv:MappingInversion +MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:closeMatch NANDO:1200577 Pelizaeus-Merzbacher like disease semapv:MappingInversion +MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:closeMatch NANDO:2201289 Pelizaeus-Merzbacher like disease semapv:MappingInversion +MONDO:0017234 inherited prion disease skos:closeMatch NANDO:1200188 Genetic prion diseases semapv:MappingInversion +MONDO:0017236 rapidly progressive glomerulonephritis skos:closeMatch NANDO:1200714 Rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0017236 rapidly progressive glomerulonephritis skos:closeMatch NANDO:1200723 Crescentic glomerulonephritis semapv:MappingInversion +MONDO:0017265 autosomal recessive congenital ichthyosis skos:closeMatch NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis semapv:MappingInversion +MONDO:0017265 autosomal recessive congenital ichthyosis skos:closeMatch NANDO:2200991 Autosomal recessive congenital ichthyosis semapv:MappingInversion +MONDO:0017266 keratinopathic ichthyosis skos:closeMatch NANDO:1200610 Keratinopathic ichthyosis semapv:MappingInversion +MONDO:0017266 keratinopathic ichthyosis skos:closeMatch NANDO:2200987 Keratinopathic ichthyosis semapv:MappingInversion +MONDO:0017276 frontotemporal dementia skos:closeMatch NANDO:1200548 Frontotemporal lobar degeneration semapv:MappingInversion +MONDO:0017278 autoimmune polyendocrinopathy skos:closeMatch NANDO:2100125 Autoimmune polyendocrinopathy semapv:MappingInversion +MONDO:0017287 IgG4-related disease skos:closeMatch NANDO:1200923 IgG4-related disease semapv:MappingInversion +MONDO:0017287 IgG4-related disease skos:closeMatch NANDO:1200924 IgG4-related disease semapv:MappingInversion +MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch NANDO:1200648 Ehlers-Danlos syndrome, vascular type semapv:MappingInversion +MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch NANDO:2201258 Ehlers-Danlos syndrome, vascular type semapv:MappingInversion +MONDO:0017319 hereditary elliptocytosis skos:closeMatch NANDO:2200630 Hereditary elliptocytosis semapv:MappingInversion +MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency semapv:MappingInversion +MONDO:0017353 neonatal glycine encephalopathy skos:closeMatch NANDO:1200985 Neonatal nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0017354 infantile glycine encephalopathy skos:closeMatch NANDO:1200986 Infantile nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0017359 3-methylglutaconic aciduria skos:closeMatch NANDO:1200989 Methylglutaconic aciduria semapv:MappingInversion +MONDO:0017359 3-methylglutaconic aciduria skos:closeMatch NANDO:2200496 Methylglutaconic aciduria semapv:MappingInversion +MONDO:0017361 congenital rubella syndrome skos:closeMatch NANDO:2200890 Congenital rubella syndrome semapv:MappingInversion +MONDO:0017364 POEMS syndrome skos:closeMatch NANDO:1200033 Crow-Fukase syndrome semapv:MappingInversion +MONDO:0017380 juvenile polyposis syndrome skos:closeMatch NANDO:2200916 Juvenile polyposis semapv:MappingInversion +MONDO:0017381 congenital herpes simplex virus infection skos:closeMatch NANDO:2200889 Congenital herpes simplex virus infection semapv:MappingInversion +MONDO:0017385 malignant migrating partial seizures of infancy skos:closeMatch NANDO:1200595 Epilepsy of infancy with migrating focal seizures semapv:MappingInversion +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:closeMatch NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia semapv:MappingInversion +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:closeMatch NANDO:2201077 BH4-responsive hyperphenylalaninemia semapv:MappingInversion +MONDO:0017398 3MC syndrome skos:closeMatch NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome semapv:MappingInversion +MONDO:0017409 fetal cytomegalovirus syndrome skos:closeMatch NANDO:2200891 Congenital cytomegalovirus infection semapv:MappingInversion +MONDO:0017410 porencephaly skos:closeMatch NANDO:1201074 Porencephaly semapv:MappingInversion +MONDO:0017570 leukocyte adhesion deficiency skos:closeMatch NANDO:1200355 Leukocyte adhesion deficiency semapv:MappingInversion +MONDO:0017570 leukocyte adhesion deficiency skos:closeMatch NANDO:2200755 Leukocyte adhesion deficiency semapv:MappingInversion +MONDO:0017574 chronic intestinal pseudoobstruction skos:closeMatch NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction semapv:MappingInversion +MONDO:0017574 chronic intestinal pseudoobstruction skos:closeMatch NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction semapv:MappingInversion +MONDO:0017608 obsolete dystrophic epidermolysis bullosa skos:closeMatch NANDO:2201343 Dystrophic epidermolysis bullosa semapv:MappingInversion +MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch NANDO:1200235 Epidermolysis bullosa simplex semapv:MappingInversion +MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch NANDO:2201341 Epidermolysis bullosa simplex semapv:MappingInversion +MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex semapv:MappingInversion +MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch NANDO:1200236 Junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch NANDO:2201342 Junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency skos:closeMatch NANDO:1200824 Glycogen storage diseases type 0 semapv:MappingInversion +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:closeMatch NANDO:1200139 Classic infantile Pompe disease semapv:MappingInversion +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:closeMatch NANDO:2201229 Classic infantile Pompe disease semapv:MappingInversion +MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:closeMatch NANDO:2201159 Glycogen storage disease type IV, hepatic form semapv:MappingInversion +MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:closeMatch NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form semapv:MappingInversion +MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:closeMatch NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form semapv:MappingInversion +MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form semapv:MappingInversion +MONDO:0017708 mevalonate kinase deficiency skos:closeMatch NANDO:2200436 Hyper IgD syndrome semapv:MappingInversion +MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:closeMatch NANDO:1200969 Carnitine cycle disorders semapv:MappingInversion +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:closeMatch NANDO:2200522 Mitochondrial respiratory chain disorders semapv:MappingInversion +MONDO:0017720 GM2 gangliosidosis skos:closeMatch NANDO:1200070 GM2 gangliosidosis semapv:MappingInversion +MONDO:0017720 GM2 gangliosidosis skos:closeMatch NANDO:2200559 GM2 gangliosidosis semapv:MappingInversion +MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:closeMatch NANDO:1200079 Late infantile metachromatic leukodystrophy semapv:MappingInversion +MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:closeMatch NANDO:2201202 Metachromatic leukodystrophy, late infantile form semapv:MappingInversion +MONDO:0017730 metachromatic leukodystrophy, adult form skos:closeMatch NANDO:1200081 Adult metachromatic leukodystrophy semapv:MappingInversion +MONDO:0017730 metachromatic leukodystrophy, adult form skos:closeMatch NANDO:2201204 Metachromatic leukodystrophy, adult form semapv:MappingInversion +MONDO:0017732 alpha-mannosidosis, infantile form skos:closeMatch NANDO:1200127 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0017732 alpha-mannosidosis, infantile form skos:closeMatch NANDO:2201188 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0017733 alpha-mannosidosis, adult form skos:closeMatch NANDO:1200128 Alpha-mannosidosis, adult form semapv:MappingInversion +MONDO:0017733 alpha-mannosidosis, adult form skos:closeMatch NANDO:2201189 Alpha-mannosidosis, adult form semapv:MappingInversion +MONDO:0017734 sialidosis skos:closeMatch NANDO:1200116 Sialidosis semapv:MappingInversion +MONDO:0017734 sialidosis skos:closeMatch NANDO:2200556 Sialidosis semapv:MappingInversion +MONDO:0017737 intermediate severe Salla disease skos:closeMatch NANDO:1200148 Intermediate severe Salla disease semapv:MappingInversion +MONDO:0017737 intermediate severe Salla disease skos:closeMatch NANDO:2201238 Intermediate severe Salla disease semapv:MappingInversion +MONDO:0017746 atypical Rett syndrome skos:closeMatch NANDO:1200605 Atypical Rett syndrome semapv:MappingInversion +MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch NANDO:2200605 HDL deficiency semapv:MappingInversion +MONDO:0017778 lamellar ichthyosis skos:closeMatch NANDO:1200617 Lamellar ichthyosis semapv:MappingInversion +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:closeMatch NANDO:1200134 Schindler disease semapv:MappingInversion +MONDO:0017816 primary systemic amyloidosis skos:closeMatch NANDO:1200209 Systemic amyloidosis semapv:MappingInversion +MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch NANDO:2200102 Malignant neurinoma semapv:MappingInversion +MONDO:0017838 sclerosteosis skos:closeMatch NANDO:2201369 Sclerosteosis semapv:MappingInversion +MONDO:0017842 Senior-Loken syndrome skos:closeMatch NANDO:1201049 Senior-Loken syndrome semapv:MappingInversion +MONDO:0017858 acute erythroid leukemia skos:closeMatch NANDO:2200010 Acute erythremia semapv:MappingInversion +MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:closeMatch NANDO:1200964 Congenital pulmonary vein stenosis semapv:MappingInversion +MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:closeMatch NANDO:2200273 Pulmonary venous obstruction semapv:MappingInversion +MONDO:0017870 supravalvular pulmonary stenosis skos:closeMatch NANDO:2200278 Supravalvular pulmonary stenosis semapv:MappingInversion +MONDO:0017910 dehydrated hereditary stomatocytosis skos:closeMatch NANDO:2200633 Stomatocytic xerocytosis semapv:MappingInversion +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch NANDO:1200352 Autoimmune lymphoproliferative syndrome semapv:MappingInversion +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch NANDO:2200726 Autoimmune lymphoproliferative syndrome semapv:MappingInversion +MONDO:0017986 disorder of plasmalogens biosynthesis skos:closeMatch NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency semapv:MappingInversion +MONDO:0017987 syringomyelia skos:closeMatch NANDO:1200506 Syringomyelia semapv:MappingInversion +MONDO:0017987 syringomyelia skos:closeMatch NANDO:1200507 Symptomatic syringomyelia semapv:MappingInversion +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch NANDO:2200216 Polymorphic ventricular premature beat semapv:MappingInversion +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia semapv:MappingInversion +MONDO:0017991 Takayasu arteritis skos:closeMatch NANDO:1200251 Takayasu arteritis semapv:MappingInversion +MONDO:0017991 Takayasu arteritis skos:closeMatch NANDO:2200423 Takayasu arteritis semapv:MappingInversion +MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:closeMatch NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration semapv:MappingInversion +MONDO:0018018 wild type ATTR amyloidosis skos:closeMatch NANDO:1200212 Transthyretin-related senile systemic amyloidosis semapv:MappingInversion +MONDO:0018029 congenital factor XIII deficiency skos:closeMatch NANDO:2200681 Factor XIII deficiency semapv:MappingInversion +MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:closeMatch NANDO:2100203 Combined immunodeficiency semapv:MappingInversion +MONDO:0018037 hyper-IgE syndrome skos:closeMatch NANDO:1200340 Hyper-IgE syndrome semapv:MappingInversion +MONDO:0018037 hyper-IgE syndrome skos:closeMatch NANDO:2200713 Hyper-IgE syndrome semapv:MappingInversion +MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch NANDO:2200648 Heparin-induced thrombocytopenia semapv:MappingInversion +MONDO:0018053 trichothiodystrophy skos:closeMatch NANDO:1200627 Trichothiodystrophy semapv:MappingInversion +MONDO:0018065 isolated trigonocephaly skos:closeMatch NANDO:2201305 Non-syndromic metopic craniosynostosis semapv:MappingInversion +MONDO:0018068 trisomy 13 skos:closeMatch NANDO:2200964 Trisomy 13 semapv:MappingInversion +MONDO:0018071 trisomy 18 skos:closeMatch NANDO:2200963 Trisomy 18 semapv:MappingInversion +MONDO:0018072 persistent truncus arteriosus skos:closeMatch NANDO:1200693 Truncus arteriosus communis semapv:MappingInversion +MONDO:0018072 persistent truncus arteriosus skos:closeMatch NANDO:2200261 Truncus arteriosus communis semapv:MappingInversion +MONDO:0018088 familial Mediterranean fever skos:closeMatch NANDO:1200863 Familial Mediterranean fever semapv:MappingInversion +MONDO:0018088 familial Mediterranean fever skos:closeMatch NANDO:2200431 Familial Mediterranean fever semapv:MappingInversion +MONDO:0018089 double outlet right ventricle skos:closeMatch NANDO:1200710 Double outlet right ventricle semapv:MappingInversion +MONDO:0018089 double outlet right ventricle skos:closeMatch NANDO:2100076 Double outlet right ventricle semapv:MappingInversion +MONDO:0018089 double outlet right ventricle skos:closeMatch NANDO:2200256 Double outlet right ventricle semapv:MappingInversion +MONDO:0018090 double outlet left ventricle skos:closeMatch NANDO:2100077 Double-outlet left ventricle semapv:MappingInversion +MONDO:0018090 double outlet left ventricle skos:closeMatch NANDO:2200257 Double-outlet left ventricle semapv:MappingInversion +MONDO:0018097 West syndrome skos:closeMatch NANDO:1200592 West syndrome semapv:MappingInversion +MONDO:0018097 West syndrome skos:closeMatch NANDO:2200878 West syndrome semapv:MappingInversion +MONDO:0018105 Wolfram syndrome skos:closeMatch NANDO:1200757 Wolfram syndrome semapv:MappingInversion +MONDO:0018112 isolated scaphocephaly skos:closeMatch NANDO:2201302 Non-syndromic sagittal craniosynostosis semapv:MappingInversion +MONDO:0018149 GM1 gangliosidosis skos:closeMatch NANDO:1200066 GM1 gangliosidosis semapv:MappingInversion +MONDO:0018149 GM1 gangliosidosis skos:closeMatch NANDO:2200558 GM1 Gangliosidosis semapv:MappingInversion +MONDO:0018150 Gaucher disease skos:closeMatch NANDO:1200056 Gaucher disease semapv:MappingInversion +MONDO:0018150 Gaucher disease skos:closeMatch NANDO:2200562 Gaucher disease semapv:MappingInversion +MONDO:0018153 Erdheim-Chester disease skos:closeMatch NANDO:2200038 Erdheim-Chester disease semapv:MappingInversion +MONDO:0018155 lateral sclerosis skos:closeMatch NANDO:1200008 Primary lateral sclerosis semapv:MappingInversion +MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch NANDO:2200523 Mitochondrial DNA depletion syndrome semapv:MappingInversion +MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch NANDO:2200528 Diseases due to mitochondrial DNA deletion semapv:MappingInversion +MONDO:0018170 idiopathic nephrotic syndrome skos:closeMatch NANDO:1200719 Primary nephrotic syndrome semapv:MappingInversion +MONDO:0018175 combined deficiency of factor V and factor VIII skos:closeMatch NANDO:2200686 Combined deficiency of coagulation factors V and VIII semapv:MappingInversion +MONDO:0018177 glioblastoma skos:closeMatch NANDO:2200087 Glioblastoma semapv:MappingInversion +MONDO:0018178 intestinal lymphangiectasia skos:closeMatch NANDO:2100256 Intestinal lymphangiectasia semapv:MappingInversion +MONDO:0018178 intestinal lymphangiectasia skos:closeMatch NANDO:2200914 Intestinal lymphangiectasia semapv:MappingInversion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion +MONDO:0018209 Alexander disease type I skos:closeMatch NANDO:1200555 Alexander disease type I semapv:MappingInversion +MONDO:0018210 Alexander disease type II skos:closeMatch NANDO:1200556 Alexander disease type II semapv:MappingInversion +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch NANDO:1200245 Stevens-Johnson syndrome semapv:MappingInversion +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch NANDO:2100290 Stevens-Johnson syndrome semapv:MappingInversion +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch NANDO:2201006 Stevens-Johnson syndrome semapv:MappingInversion +MONDO:0018240 TRPV4-related bone disorder skos:closeMatch NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders semapv:MappingInversion +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:closeMatch NANDO:1201020 Hepatic glycogen storage disease type IX semapv:MappingInversion +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:closeMatch NANDO:2200544 Glycogen storage disease type IX semapv:MappingInversion +MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch NANDO:2200054 Primitive neuroectodermal tumors semapv:MappingInversion +MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch NANDO:2200055 Peripheral primitive neuroectodermal tumors semapv:MappingInversion +MONDO:0018301 interstitial cystitis skos:closeMatch NANDO:1200743 Interstitial cystitis (Hunner type) semapv:MappingInversion +MONDO:0018305 chronic granulomatous disease skos:closeMatch NANDO:1200357 Chronic granulomatous disease semapv:MappingInversion +MONDO:0018305 chronic granulomatous disease skos:closeMatch NANDO:2200757 Chronic granulomatous disease semapv:MappingInversion +MONDO:0018306 Griscelli syndrome skos:closeMatch NANDO:1200640 Griscelli syndrome semapv:MappingInversion +MONDO:0018307 neurodegeneration with brain iron accumulation skos:closeMatch NANDO:2100241 Neurodegeneration with brain iron accumulation semapv:MappingInversion +MONDO:0018309 Hirschsprung disease skos:closeMatch NANDO:1200903 Hirschsprung disease semapv:MappingInversion +MONDO:0018309 Hirschsprung disease skos:closeMatch NANDO:2200945 Hirschsprung disease semapv:MappingInversion +MONDO:0018309 Hirschsprung disease skos:closeMatch NANDO:2200948 Congenital Isolated Hypoganglionosis semapv:MappingInversion +MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion +MONDO:0018328 homozygous familial hypercholesterolemia skos:closeMatch NANDO:1200394 Homozygous familial hypercholesterolemia semapv:MappingInversion +MONDO:0018328 homozygous familial hypercholesterolemia skos:closeMatch NANDO:2201255 Homozygous familial hypercholesterolemia semapv:MappingInversion +MONDO:0018348 obsolete polyglucosan body myopathy type 1 skos:closeMatch NANDO:2200456 RBCK1 deficiency semapv:MappingInversion +MONDO:0018438 eosinophilic gastrointestinal disease skos:closeMatch NANDO:1200454 Eosinophilic gastrointestinal disorders semapv:MappingInversion +MONDO:0018438 eosinophilic gastrointestinal disease skos:closeMatch NANDO:2200807 Eosinophilic gastrointestinal disorders semapv:MappingInversion +MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch NANDO:1200162 Nephropathic cystinosis semapv:MappingInversion +MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch NANDO:2201234 Nephropathic cystinosis semapv:MappingInversion +MONDO:0018470 renal agenesis skos:closeMatch NANDO:2200156 Renal aplasia semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NANDO:1200396 Congenital adrenal enzyme deficiency semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NANDO:1200397 Congenital lipoid adrenal hyperplasia semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NANDO:2100134 Congenital adrenal hyperplasia semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NANDO:2200370 Congenital lipoid adrenal hyperplasia semapv:MappingInversion +MONDO:0018483 secondary pulmonary alveolar proteinosis skos:closeMatch NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis semapv:MappingInversion +MONDO:0018542 severe congenital neutropenia skos:closeMatch NANDO:1200353 Severe congenital neutropenia semapv:MappingInversion +MONDO:0018542 severe congenital neutropenia skos:closeMatch NANDO:2200745 Severe congenital neutropenia semapv:MappingInversion +MONDO:0018544 adrenoleukodystrophy skos:closeMatch NANDO:1200165 Adrenoleukodystrophy semapv:MappingInversion +MONDO:0018544 adrenoleukodystrophy skos:closeMatch NANDO:2200576 Adrenoleukodystrophy semapv:MappingInversion +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:closeMatch NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis semapv:MappingInversion +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:closeMatch NANDO:1200428 Pulmonary capillary hemangiomatosis semapv:MappingInversion +MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NANDO:1200388 Hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NANDO:2100138 Hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NANDO:2200382 Hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0018570 hypophosphatasia skos:closeMatch NANDO:1200656 Hypophosphatasia semapv:MappingInversion +MONDO:0018570 hypophosphatasia skos:closeMatch NANDO:2201012 Hypophosphatasia semapv:MappingInversion +MONDO:0018598 obsolete neonatal adrenoleukodystrophy skos:closeMatch NANDO:1200761 Neonatal adrenoleukodystrophy semapv:MappingInversion +MONDO:0018612 congenital hypothyroidism skos:closeMatch NANDO:2200333 Congenital hypothyroidism semapv:MappingInversion +MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome skos:closeMatch NANDO:2200325 Adipsic hypernatremia semapv:MappingInversion +MONDO:0018638 pseudohypoaldosteronism skos:closeMatch NANDO:2100133 Pseudohypoaldosteronism semapv:MappingInversion +MONDO:0018638 pseudohypoaldosteronism skos:closeMatch NANDO:2200367 Pseudohypoaldosteronism semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:closeMatch NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:closeMatch NANDO:1200311 Paroxysmal nocturnal hemoglobinuria semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:closeMatch NANDO:2100182 Paroxysmal nocturnal haemoglobinuria semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:closeMatch NANDO:2200621 Paroxysmal nocturnal hemoglobinuria semapv:MappingInversion +MONDO:0018645 IgG4-related sclerosing cholangitis skos:closeMatch NANDO:1200928 IgG4-related sclerosing cholangitis semapv:MappingInversion +MONDO:0018646 sclerosing cholangitis skos:closeMatch NANDO:1200440 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0018646 sclerosing cholangitis skos:closeMatch NANDO:2100265 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum semapv:MappingInversion +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum semapv:MappingInversion +MONDO:0018666 hepatoblastoma skos:closeMatch NANDO:2200046 Hepatoblastoma semapv:MappingInversion +MONDO:0018671 IgG4-related kidney disease skos:closeMatch NANDO:1200930 IgG4-related kidney disease semapv:MappingInversion +MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0018737 catastrophic antiphospholipid syndrome skos:closeMatch NANDO:1200270 Catastrophic antiphospholipid syndrome semapv:MappingInversion +MONDO:0018746 mucous membrane pemphigoid skos:closeMatch NANDO:1200634 Mucous membrane pemphigoid semapv:MappingInversion +MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch NANDO:1200635 Epidermolysis bullosa acquisita semapv:MappingInversion +MONDO:0018762 non-acquired combined pituitary hormone deficiency skos:closeMatch NANDO:2200312 Congenital hypopituitarism semapv:MappingInversion +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:closeMatch NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine semapv:MappingInversion +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:closeMatch NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch NANDO:1200466 Familial cold autoinflammatorysyndrome semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch NANDO:2200449 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch NANDO:2200454 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch NANDO:2201068 familial cold autoinflammatory syndrome semapv:MappingInversion +MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:closeMatch NANDO:1200019 Intermediate Charcot-Marie-Tooth disease semapv:MappingInversion +MONDO:0018781 KID syndrome skos:closeMatch NANDO:1200621 Keratitis-ichthyosis-deafness syndrome semapv:MappingInversion +MONDO:0018781 KID syndrome skos:closeMatch NANDO:2200996 Keratitis-ichthyosis-deafness syndrome semapv:MappingInversion +MONDO:0018800 Kallmann syndrome skos:closeMatch NANDO:2200381 Kallmann syndrome semapv:MappingInversion +MONDO:0018808 Caroli syndrome skos:closeMatch NANDO:2200934 Caroli disease semapv:MappingInversion +MONDO:0018824 pyoderma gangrenosum skos:closeMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch NANDO:1200574 Neuronal migration defects semapv:MappingInversion +MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch NANDO:2200817 Lissencephaly semapv:MappingInversion +MONDO:0018840 isolated congenital hepatic fibrosis skos:closeMatch NANDO:2100267 Congenital hepatic fibrosis semapv:MappingInversion +MONDO:0018840 isolated congenital hepatic fibrosis skos:closeMatch NANDO:2200936 Congenital hepatic fibrosis semapv:MappingInversion +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch NANDO:1200996 Aicardi-Goutières Syndrome semapv:MappingInversion +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch NANDO:2100244 Aicardi-Goutières Syndrome semapv:MappingInversion +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch NANDO:2200893 Aicardi-Goutières Syndrome semapv:MappingInversion +MONDO:0018868 metachromatic leukodystrophy skos:closeMatch NANDO:1200078 Metachromatic leukodystrophy semapv:MappingInversion +MONDO:0018868 metachromatic leukodystrophy skos:closeMatch NANDO:2200560 Metachromatic leukodystrophy semapv:MappingInversion +MONDO:0018869 cobblestone lissencephaly skos:closeMatch NANDO:1201072 Cobblestone brain malformation semapv:MappingInversion +MONDO:0018872 acute megakaryoblastic leukemia skos:closeMatch NANDO:2200011 Acute megakaryoblastic leukemia semapv:MappingInversion +MONDO:0018878 branchiootic syndrome skos:closeMatch NANDO:1200675 Branchio-oto-renal syndrome semapv:MappingInversion +MONDO:0018881 myelodysplastic syndrome skos:closeMatch NANDO:2100003 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0018881 myelodysplastic syndrome skos:closeMatch NANDO:2200019 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch NANDO:1200859 Generalized congenital lipodystrophy semapv:MappingInversion +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch NANDO:2200465 Lipoatrophic diabetes semapv:MappingInversion +MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch NANDO:1200316 Thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch NANDO:2100189 Thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch NANDO:2200649 Thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0018901 left ventricular noncompaction skos:closeMatch NANDO:2200231 Non-compaction of the ventricle semapv:MappingInversion +MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch NANDO:1200725 Primary membranoproliferative glomerulonephritis semapv:MappingInversion +MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch NANDO:2200123 Membranoproliferative glomerulonephritis semapv:MappingInversion +MONDO:0018907 craniopharyngioma skos:closeMatch NANDO:2200091 Craniopharyngioma semapv:MappingInversion +MONDO:0018910 oculocutaneous albinism skos:closeMatch NANDO:1200637 Oculocutaneous albinism semapv:MappingInversion +MONDO:0018910 oculocutaneous albinism skos:closeMatch NANDO:1200641 Non-syndromic oculocutaneous albinism semapv:MappingInversion +MONDO:0018910 oculocutaneous albinism skos:closeMatch NANDO:2200986 Oculocutaneous albinism semapv:MappingInversion +MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch NANDO:2200462 Maturity-onset diabetes of the young semapv:MappingInversion +MONDO:0018919 McCune-Albright syndrome skos:closeMatch NANDO:2200412 McCune-Albright syndrome semapv:MappingInversion +MONDO:0018922 cold agglutinin disease skos:closeMatch NANDO:1200307 Cold agglutinin disease semapv:MappingInversion +MONDO:0018922 cold agglutinin disease skos:closeMatch NANDO:2200618 Cold agglutinin disease semapv:MappingInversion +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch NANDO:1200125 Mucolipidosis III semapv:MappingInversion +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch NANDO:2200568 Mucolipidosis III semapv:MappingInversion +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch NANDO:1200100 Sanfilippo disease semapv:MappingInversion +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch NANDO:2200549 Mucopolysaccharidosis type III semapv:MappingInversion +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NANDO:1200105 Morquio syndrome semapv:MappingInversion +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NANDO:2200550 Mucopolysaccharidosis type IV semapv:MappingInversion +MONDO:0018940 congenital myasthenic syndrome skos:closeMatch NANDO:1200021 Congenital myasthenic syndrome semapv:MappingInversion +MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch NANDO:1200015 McLeod syndrome semapv:MappingInversion +MONDO:0018947 centronuclear myopathy skos:closeMatch NANDO:1200481 Myotubular myopathy semapv:MappingInversion +MONDO:0018947 centronuclear myopathy skos:closeMatch NANDO:1200482 Centronuclear myopathy semapv:MappingInversion +MONDO:0018947 centronuclear myopathy skos:closeMatch NANDO:2200867 Myotubular myopathy semapv:MappingInversion +MONDO:0018948 multiminicore myopathy skos:closeMatch NANDO:1200480 Minicore myopathy semapv:MappingInversion +MONDO:0018948 multiminicore myopathy skos:closeMatch NANDO:2200871 Multicore disease semapv:MappingInversion +MONDO:0018949 distal myopathy skos:closeMatch NANDO:1200216 Distal myopathy semapv:MappingInversion +MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:closeMatch NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency semapv:MappingInversion +MONDO:0018954 Loeys-Dietz syndrome skos:closeMatch NANDO:2200969 Loeys-Dietz syndrome semapv:MappingInversion +MONDO:0018958 nemaline myopathy skos:closeMatch NANDO:1200478 Nemaline myopathy semapv:MappingInversion +MONDO:0018958 nemaline myopathy skos:closeMatch NANDO:2200869 Nemaline myopathy semapv:MappingInversion +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch NANDO:1200500 Sodium channel myotonia semapv:MappingInversion +MONDO:0018960 congenital primary megaureter skos:closeMatch NANDO:2200184 Megaureter semapv:MappingInversion +MONDO:0018965 Alport syndrome skos:closeMatch NANDO:1200712 Alport's syndrome semapv:MappingInversion +MONDO:0018965 Alport syndrome skos:closeMatch NANDO:2200126 Alport syndrome semapv:MappingInversion +MONDO:0018974 paraneoplastic pemphigus skos:closeMatch NANDO:1200231 Paraneoplastic pemphigus semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch NANDO:1200225 Neurofibromatosis semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch NANDO:1200226 Neurofibromatosis type 1 semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch NANDO:2100287 von Recklinghausen's disease semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch NANDO:2201003 von Recklinghausen's disease semapv:MappingInversion +MONDO:0018979 multifocal motor neuropathy skos:closeMatch NANDO:1200031 Multifocal motor neuropathy semapv:MappingInversion +MONDO:0018982 Niemann-Pick disease type C skos:closeMatch NANDO:1200063 Niemann-Pick disease type C semapv:MappingInversion +MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:closeMatch NANDO:1200018 Charcot-Marie-Tooth disease type 2 semapv:MappingInversion +MONDO:0018997 Noonan syndrome skos:closeMatch NANDO:1200680 Noonan syndrome semapv:MappingInversion +MONDO:0018997 Noonan syndrome skos:closeMatch NANDO:2200413 Noonan syndrome semapv:MappingInversion +MONDO:0018999 LCAT deficiency skos:closeMatch NANDO:1200852 Lecithin cholesterol acyltransferase deficiency semapv:MappingInversion +MONDO:0019003 multiple endocrine neoplasia type 2 skos:closeMatch NANDO:2200406 Multiple endocrine neoplasia type 2 semapv:MappingInversion +MONDO:0019004 kidney Wilms tumor skos:closeMatch NANDO:2200043 Wilms tumour semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:closeMatch NANDO:1201036 Nephronophthisis semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:closeMatch NANDO:2100015 Nephronophthisis semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:closeMatch NANDO:2200140 Nephronophthisis semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:closeMatch NANDO:2200170 Medullary cystic kidney semapv:MappingInversion +MONDO:0019009 isolated focal cortical dysplasia skos:closeMatch NANDO:1200564 Focal cortical dysplasia semapv:MappingInversion +MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:closeMatch NANDO:1200017 Charcot-Marie-Tooth disease type 1 semapv:MappingInversion +MONDO:0019012 Carpenter syndrome skos:closeMatch NANDO:2200847 Carpenter syndrome semapv:MappingInversion +MONDO:0019019 osteogenesis imperfecta skos:closeMatch NANDO:1200873 Osteogenesis imperfecta semapv:MappingInversion +MONDO:0019019 osteogenesis imperfecta skos:closeMatch NANDO:2201011 Osteogenesis imperfecta semapv:MappingInversion +MONDO:0019029 segmental odontomaxillary dysplasia skos:closeMatch NANDO:1200561 Septo-optic dysplasia semapv:MappingInversion +MONDO:0019035 pancreatoblastoma skos:closeMatch NANDO:2200082 Pancreatoblastoma semapv:MappingInversion +MONDO:0019037 progressive supranuclear palsy skos:closeMatch NANDO:1200009 Progressive supranuclear palsy semapv:MappingInversion +MONDO:0019040 chromosomal disorder skos:closeMatch NANDO:1100014 Chromosome abnormality semapv:MappingInversion +MONDO:0019040 chromosomal disorder skos:closeMatch NANDO:2100279 Chromosome abnormality semapv:MappingInversion +MONDO:0019040 chromosomal disorder skos:closeMatch NANDO:2100280 Chromosome abnormality semapv:MappingInversion +MONDO:0019046 leukodystrophy skos:closeMatch NANDO:1200575 Congenital hypomyelinating leukodystrophy semapv:MappingInversion +MONDO:0019046 leukodystrophy skos:closeMatch NANDO:2200836 Congenital hypomyelinating leukodystrophy semapv:MappingInversion +MONDO:0019052 inborn errors of metabolism skos:closeMatch NANDO:2100159 Inborn errors of metabolism semapv:MappingInversion +MONDO:0019053 peroxisomal disease skos:closeMatch NANDO:1200758 Peroxisomal disorder semapv:MappingInversion +MONDO:0019053 peroxisomal disease skos:closeMatch NANDO:2100166 Peroxisomal disorder semapv:MappingInversion +MONDO:0019056 neuromuscular disease skos:closeMatch NANDO:1100001 Neuromuscular disease semapv:MappingInversion +MONDO:0019056 neuromuscular disease skos:closeMatch NANDO:2100214 Neuromuscular disease semapv:MappingInversion +MONDO:0019064 hereditary spastic paraplegia skos:closeMatch NANDO:1200052 Hereditary spastic paraplegia semapv:MappingInversion +MONDO:0019065 amyloidosis skos:closeMatch NANDO:2200138 Amyloid nephropathy semapv:MappingInversion +MONDO:0019079 proximal spinal muscular atrophy skos:closeMatch NANDO:2100231 Spinal muscular atrophy semapv:MappingInversion +MONDO:0019082 bullous pemphigoid skos:closeMatch NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) semapv:MappingInversion +MONDO:0019082 bullous pemphigoid skos:closeMatch NANDO:1200633 Bullous pemphigoid semapv:MappingInversion +MONDO:0019100 neuromyelitis optica skos:closeMatch NANDO:1200027 Neuromyelitis optica spectrum disorders semapv:MappingInversion +MONDO:0019100 neuromyelitis optica skos:closeMatch NANDO:2201322 Neuromyelitis optica semapv:MappingInversion +MONDO:0019123 continuous spikes and waves during sleep skos:closeMatch NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep semapv:MappingInversion +MONDO:0019124 microscopic polyangiitis skos:closeMatch NANDO:1200262 Microscopic polyangiitis semapv:MappingInversion +MONDO:0019124 microscopic polyangiitis skos:closeMatch NANDO:2200426 Microscopic polyangiitis semapv:MappingInversion +MONDO:0019125 relapsing polychondritis skos:closeMatch NANDO:1200283 Relapsing polychondritis semapv:MappingInversion +MONDO:0019125 relapsing polychondritis skos:closeMatch NANDO:2100154 Relapsing Polychondritis semapv:MappingInversion +MONDO:0019125 relapsing polychondritis skos:closeMatch NANDO:2200428 Relapsing polychondritis semapv:MappingInversion +MONDO:0019127 polymyositis skos:closeMatch NANDO:1200276 Polymyositis semapv:MappingInversion +MONDO:0019139 acquired hemophilia skos:closeMatch NANDO:1200898 Acquired hemophilia A semapv:MappingInversion +MONDO:0019142 inherited porphyria skos:closeMatch NANDO:2200610 Congenital porphyria semapv:MappingInversion +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch NANDO:1201080 Protein C deficiency semapv:MappingInversion +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch NANDO:2100197 Protein C deficiency semapv:MappingInversion +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch NANDO:2200689 Protein C deficiency semapv:MappingInversion +MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch NANDO:1200359 Mendelian susceptibility to mycobacterial disease semapv:MappingInversion +MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch NANDO:2200759 Mendelian susceptibility to mycobacterial disease semapv:MappingInversion +MONDO:0019148 Wolman disease skos:closeMatch NANDO:1200142 Acid lipase deficiency semapv:MappingInversion +MONDO:0019148 Wolman disease skos:closeMatch NANDO:1200143 Wolman disease semapv:MappingInversion +MONDO:0019148 Wolman disease skos:closeMatch NANDO:2200570 Acid lipase deficiency semapv:MappingInversion +MONDO:0019148 Wolman disease skos:closeMatch NANDO:2201232 Wolman disease semapv:MappingInversion +MONDO:0019149 cholesteryl ester storage disease skos:closeMatch NANDO:1200144 Cholesterol ester storage disease semapv:MappingInversion +MONDO:0019149 cholesteryl ester storage disease skos:closeMatch NANDO:2201233 Cholesterol ester storage disease semapv:MappingInversion +MONDO:0019154 androgen insensitivity syndrome skos:closeMatch NANDO:2200391 Androgen insensitivity syndrome semapv:MappingInversion +MONDO:0019161 pseudohypoaldosteronism type 1 skos:closeMatch NANDO:2200368 Pseudohypoaldosteronism type I semapv:MappingInversion +MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch NANDO:2200369 Pseudohypoaldosteronism type II semapv:MappingInversion +MONDO:0019165 central precocious puberty skos:closeMatch NANDO:1200381 Central precocious puberty semapv:MappingInversion +MONDO:0019165 central precocious puberty skos:closeMatch NANDO:2200377 Gonadotropin-dependent precocious puberty semapv:MappingInversion +MONDO:0019169 pyruvate dehydrogenase deficiency skos:closeMatch NANDO:2200518 Pyruvate dehydrogenase complex deficiency semapv:MappingInversion +MONDO:0019170 polyarteritis nodosa skos:closeMatch NANDO:1200261 Polyarteritis nodosa semapv:MappingInversion +MONDO:0019170 polyarteritis nodosa skos:closeMatch NANDO:2200425 Polyangiitis nodosa semapv:MappingInversion +MONDO:0019171 familial long QT syndrome skos:closeMatch NANDO:2200228 Long qt syndrome semapv:MappingInversion +MONDO:0019172 aniridia skos:closeMatch NANDO:1201001 Aniridia semapv:MappingInversion +MONDO:0019174 obsolete infantile Refsum disease skos:closeMatch NANDO:1200762 Infantile Refsum disease semapv:MappingInversion +MONDO:0019175 primary lymphedema skos:closeMatch NANDO:2201031 Primary lymphedema semapv:MappingInversion +MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch NANDO:1200744 Osler disease semapv:MappingInversion +MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch NANDO:2100296 Hereditary hemorrhagic telangiectasia semapv:MappingInversion +MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch NANDO:2201034 Hereditary hemorrhagic telangiectasia semapv:MappingInversion +MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch NANDO:1200461 Rubinstein-Taybi syndrome semapv:MappingInversion +MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch NANDO:2200955 Rubinstein-Taybi syndrome semapv:MappingInversion +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis semapv:MappingInversion +MONDO:0019193 acquired generalized lipodystrophy skos:closeMatch NANDO:1200860 Acquired generalized lipodystrophy semapv:MappingInversion +MONDO:0019200 retinitis pigmentosa skos:closeMatch NANDO:1200431 Retinitis pigmentosa semapv:MappingInversion +MONDO:0019203 acute interstitial pneumonia skos:closeMatch NANDO:1200420 Acute interstitial pneumonia semapv:MappingInversion +MONDO:0019208 Bickerstaff brainstem encephalitis skos:closeMatch NANDO:1200551 Bickerstaff's brainstem encephalitis semapv:MappingInversion +MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch NANDO:2100164 Disorder of carbohydrate metabolism semapv:MappingInversion +MONDO:0019218 inborn disorder of bile acid synthesis skos:closeMatch NANDO:2200506 Inborn errors of bile acid metabolism semapv:MappingInversion +MONDO:0019233 disorder of peroxisomal beta oxidation skos:closeMatch NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency semapv:MappingInversion +MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch NANDO:1200759 Peroxisome biogenesis disorders semapv:MappingInversion +MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch NANDO:2200575 Peroxisome biogenesis disorders semapv:MappingInversion +MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200155 Adult neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201244 Adult neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200152 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201241 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019263 autosomal erythropoietic protoporphyria skos:closeMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:closeMatch NANDO:1200137 Schindler disease type 3 semapv:MappingInversion +MONDO:0019269 ichthyosis skos:closeMatch NANDO:1200618 Ichthyosis syndrome semapv:MappingInversion +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NANDO:1200616 Congenital ichthyosiform erythroderma semapv:MappingInversion +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NANDO:1200617 Lamellar ichthyosis semapv:MappingInversion +MONDO:0019312 Hermansky-Pudlak syndrome skos:closeMatch NANDO:1200638 Hermansky-Pudlak syndrome semapv:MappingInversion +MONDO:0019322 pemphigus vegetans skos:closeMatch NANDO:1200232 Pemphigus vegetans semapv:MappingInversion +MONDO:0019323 pemphigus erythematosus skos:closeMatch NANDO:1200233 Pemphigus erythematosus semapv:MappingInversion +MONDO:0019324 pemphigus foliaceus skos:closeMatch NANDO:1200230 Pemphigus foliaceus semapv:MappingInversion +MONDO:0019328 macrocystic lymphatic malformation skos:closeMatch NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) semapv:MappingInversion +MONDO:0019338 sarcoidosis skos:closeMatch NANDO:1200415 Sarcoidosis semapv:MappingInversion +MONDO:0019341 obsolete tuberous sclerosis complex skos:closeMatch NANDO:1200607 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0019341 obsolete tuberous sclerosis complex skos:closeMatch NANDO:2200826 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0019346 sialidosis type 1 skos:closeMatch NANDO:1200117 Sialidosis type 1 semapv:MappingInversion +MONDO:0019346 sialidosis type 1 skos:closeMatch NANDO:2201191 Sialidosis type 1 semapv:MappingInversion +MONDO:0019349 Sotos syndrome skos:closeMatch NANDO:1200679 Sotos syndrome semapv:MappingInversion +MONDO:0019349 Sotos syndrome skos:closeMatch NANDO:2200953 Sotos syndrome semapv:MappingInversion +MONDO:0019350 hereditary spherocytosis skos:closeMatch NANDO:2200622 Hereditary spherocytosis semapv:MappingInversion +MONDO:0019353 Stargardt disease skos:closeMatch NANDO:1200933 Stargardt disease semapv:MappingInversion +MONDO:0019355 adult-onset Still disease skos:closeMatch NANDO:1200282 Adult Still's disease semapv:MappingInversion +MONDO:0019366 free sialic acid storage disease skos:closeMatch NANDO:1200146 Free sialic acid storage disease semapv:MappingInversion +MONDO:0019366 free sialic acid storage disease skos:closeMatch NANDO:2200572 Free Sialic Acid Storage Disease semapv:MappingInversion +MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch NANDO:2200059 Desmoplastic small round cell tumors semapv:MappingInversion +MONDO:0019391 Fanconi anemia skos:closeMatch NANDO:1200303 Fanconi anemia semapv:MappingInversion +MONDO:0019391 Fanconi anemia skos:closeMatch NANDO:1200891 Fanconi anemia semapv:MappingInversion +MONDO:0019391 Fanconi anemia skos:closeMatch NANDO:2200652 Fanconi anemia semapv:MappingInversion +MONDO:0019399 Isaac syndrome skos:closeMatch NANDO:1200510 Isaacs syndrome semapv:MappingInversion +MONDO:0019402 beta thalassemia skos:closeMatch NANDO:2201274 β-thalassemia semapv:MappingInversion +MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch NANDO:1200885 Congenital dyserythropoietic anemia semapv:MappingInversion +MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch NANDO:2100178 Congenital dyserythropoietic anemia semapv:MappingInversion +MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch NANDO:2200615 Congenital dyserythropoietic anemia semapv:MappingInversion +MONDO:0019408 Astley-Kendall dysplasia skos:closeMatch NANDO:2201362 Astley-Kendall dysplasia semapv:MappingInversion +MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:closeMatch NANDO:2200647 Neonatal alloimmune thrombocytopenia semapv:MappingInversion +MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch NANDO:1200471 Articular-type juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch NANDO:2201056 Oligoarticular juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch NANDO:1200470 Systemic juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch NANDO:2201055 Systemic juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:closeMatch NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:closeMatch NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019438 AL amyloidosis skos:closeMatch NANDO:1200211 Amyloid light-chain amyloidosis semapv:MappingInversion +MONDO:0019443 dextro-looped transposition of the great arteries skos:closeMatch NANDO:1200698 Corrected transposition of great arteries semapv:MappingInversion +MONDO:0019448 benign adult familial myoclonic epilepsy skos:closeMatch NANDO:1200956 Benign adult familial myoclonus epilepsy semapv:MappingInversion +MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch NANDO:2200017 Acute undifferentiated leukemia semapv:MappingInversion +MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch NANDO:2200018 Mixed phenotype acute leukemia semapv:MappingInversion +MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch NANDO:2200012 NK cell leukemia semapv:MappingInversion +MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type semapv:MappingInversion +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma semapv:MappingInversion +MONDO:0019480 Langerhans cell sarcoma skos:closeMatch NANDO:2200036 Langerhans cell sarcoma semapv:MappingInversion +MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:closeMatch NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome semapv:MappingInversion +MONDO:0019487 epilepsy with myoclonic absences skos:closeMatch NANDO:1200589 Myoclonic absence epilepsy semapv:MappingInversion +MONDO:0019499 Turner syndrome skos:closeMatch NANDO:2200410 Turner syndrome semapv:MappingInversion +MONDO:0019501 Usher syndrome skos:closeMatch NANDO:1200941 Usher syndrome semapv:MappingInversion +MONDO:0019503 anterior segment dysgenesis skos:closeMatch NANDO:1201000 Anterior segment dysgenesis semapv:MappingInversion +MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch NANDO:1200306 Warm antibody hemolytic anemia semapv:MappingInversion +MONDO:0019533 paroxysmal cold hemoglobinuria skos:closeMatch NANDO:1200308 Paroxysmal cold hemoglobinuria semapv:MappingInversion +MONDO:0019533 paroxysmal cold hemoglobinuria skos:closeMatch NANDO:2200619 Paroxysmal cold hemoglobinuria semapv:MappingInversion +MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:closeMatch NANDO:1200309 Mixed-type autoimmune hemolytic anemia semapv:MappingInversion +MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:closeMatch NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome semapv:MappingInversion +MONDO:0019563 CREST syndrome skos:closeMatch NANDO:1201011 Limited cutaneous systemic sclerosis semapv:MappingInversion +MONDO:0019600 xeroderma pigmentosum skos:closeMatch NANDO:1200608 Xeroderma pigmentosum semapv:MappingInversion +MONDO:0019600 xeroderma pigmentosum skos:closeMatch NANDO:2100286 Xeroderma pigmentosum semapv:MappingInversion +MONDO:0019600 xeroderma pigmentosum skos:closeMatch NANDO:2201002 Xeroderma pigmentosum semapv:MappingInversion +MONDO:0019607 unspecified juvenile idiopathic arthritis skos:closeMatch NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019609 Zellweger spectrum disorders skos:closeMatch NANDO:1200760 Zellweger syndrome semapv:MappingInversion +MONDO:0019611 TSH-secreting pituitary adenoma skos:closeMatch NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome semapv:MappingInversion +MONDO:0019622 non-specific interstitial pneumonia skos:closeMatch NANDO:1200419 Non-specific interstitial pneumonia semapv:MappingInversion +MONDO:0019623 hereditary angioedema skos:closeMatch NANDO:1200365 Hereditary angioedema semapv:MappingInversion +MONDO:0019623 hereditary angioedema skos:closeMatch NANDO:2200795 Hereditary angioedema semapv:MappingInversion +MONDO:0019637 renal hypoplasia skos:closeMatch NANDO:2200155 Hypoplastic kidney semapv:MappingInversion +MONDO:0019638 renal dysplasia skos:closeMatch NANDO:2200161 Renal dysplasia semapv:MappingInversion +MONDO:0019639 congenital megacalycosis skos:closeMatch NANDO:2200177 Megacalycosis semapv:MappingInversion +MONDO:0019642 vitamin D-dependent rickets, type 2 skos:closeMatch NANDO:1200783 Vitamin D-dependent rickets, type 2 semapv:MappingInversion +MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis skos:closeMatch NANDO:2200111 Diffuse mesangial sclerosis semapv:MappingInversion +MONDO:0019669 hypochondrogenesis skos:closeMatch NANDO:2201346 Hypochondrogenesis semapv:MappingInversion +MONDO:0019701 chondrodysplasia punctata skos:closeMatch NANDO:2201017 Chondrodysplasia punctata semapv:MappingInversion +MONDO:0019731 AApoAI amyloidosis skos:closeMatch NANDO:1201062 Familial amyloid polyneuropathy type 3 semapv:MappingInversion +MONDO:0019734 juvenile polymyositis skos:closeMatch NANDO:2200419 Juvenile polymyositis semapv:MappingInversion +MONDO:0019736 dense deposit disease skos:closeMatch NANDO:1200739 Primary membranoproliferative glomerulonephritis type II semapv:MappingInversion +MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch NANDO:1200319 Secondary thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0019751 autoinflammatory syndrome skos:closeMatch NANDO:2100156 Autoinflammatory disease semapv:MappingInversion +MONDO:0019773 myelomeningocele skos:closeMatch NANDO:1200509 Myelomeningocele semapv:MappingInversion +MONDO:0019773 myelomeningocele skos:closeMatch NANDO:2100215 Myelomeningocele semapv:MappingInversion +MONDO:0019773 myelomeningocele skos:closeMatch NANDO:2200814 Myelomeningocele semapv:MappingInversion +MONDO:0019787 autoimmune enteropathy skos:closeMatch NANDO:2200923 Autoimmune enteropathy semapv:MappingInversion +MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch NANDO:1200819 Hepatoerythropoietic porphyria semapv:MappingInversion +MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch NANDO:2201270 Hepatoerythropoietic porphyria semapv:MappingInversion +MONDO:0019804 tracheomalacia skos:closeMatch NANDO:2200195 Tracheomalacia semapv:MappingInversion +MONDO:0019810 toxic epidermal necrolysis skos:closeMatch NANDO:1200246 Toxic epidermal necrolysis semapv:MappingInversion +MONDO:0019810 toxic epidermal necrolysis skos:closeMatch NANDO:2201007 Toxic epidermal necrolysis semapv:MappingInversion +MONDO:0019813 congenital tricuspid stenosis skos:closeMatch NANDO:1200962 Congenital tricuspid stenosis semapv:MappingInversion +MONDO:0019832 acquired pituitary hormone deficiency skos:closeMatch NANDO:2200313 Acquired hypopituitarism semapv:MappingInversion +MONDO:0019854 thyroid ectopia skos:closeMatch NANDO:2200330 Ectoic thyroid semapv:MappingInversion +MONDO:0019855 athyreosis skos:closeMatch NANDO:2200331 Thyroid agenesis semapv:MappingInversion +MONDO:0019933 acromegaly skos:closeMatch NANDO:2100112 Acromegaly semapv:MappingInversion +MONDO:0019933 acromegaly skos:closeMatch NANDO:2200315 Acromegaly semapv:MappingInversion +MONDO:0019948 reducing body myopathy skos:closeMatch NANDO:2200875 Reducing body myopathy semapv:MappingInversion +MONDO:0019952 congenital myopathy skos:closeMatch NANDO:1200477 Congenital myopathy semapv:MappingInversion +MONDO:0019952 congenital myopathy skos:closeMatch NANDO:2100234 Congenital myopathy semapv:MappingInversion +MONDO:0019959 glucagonoma skos:closeMatch NANDO:2100142 Glucagonoma semapv:MappingInversion +MONDO:0019959 glucagonoma skos:closeMatch NANDO:2200397 Glucagonoma semapv:MappingInversion +MONDO:0019960 VIPoma skos:closeMatch NANDO:2200394 Vipoma semapv:MappingInversion +MONDO:0019983 multiloculated renal cyst skos:closeMatch NANDO:2200171 Multilocular cysts of the kidney semapv:MappingInversion +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch NANDO:1200776 Pseudohypoparathyroidism semapv:MappingInversion +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch NANDO:2100126 Pseudohypoparathyroidism semapv:MappingInversion +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch NANDO:2200349 Pseudohypoparathyroidism semapv:MappingInversion +MONDO:0020007 absence of the pulmonary artery skos:closeMatch NANDO:2200282 Unilateral absence of a pulmonary artery semapv:MappingInversion +MONDO:0020022 central nervous system malformation skos:closeMatch NANDO:2200118 Central nervous system malformation syndrome semapv:MappingInversion +MONDO:0020040 46,XY disorder of sex development skos:closeMatch NANDO:2200393 Disorders of sex development of 46,XX semapv:MappingInversion +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:closeMatch NANDO:2200393 Disorders of sex development of 46,XX semapv:MappingInversion +MONDO:0020064 pulmonary valve agenesis skos:closeMatch NANDO:2100095 Absent pulmonary valve semapv:MappingInversion +MONDO:0020064 pulmonary valve agenesis skos:closeMatch NANDO:2200280 Absent pulmonary valve semapv:MappingInversion +MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch NANDO:1200645 Ehlers-Danlos Syndrome semapv:MappingInversion +MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch NANDO:2200607 Ehlers-Danlos syndrome semapv:MappingInversion +MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch NANDO:1200953 Progressive myoclonus epilepsy semapv:MappingInversion +MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch NANDO:2100237 Progressive myoclonus epilepsy semapv:MappingInversion +MONDO:0020088 familial partial lipodystrophy skos:closeMatch NANDO:1200861 Familial partial lipodystrophy semapv:MappingInversion +MONDO:0020099 inherited sideroblastic anemia skos:closeMatch NANDO:1200892 Hereditary sideroblastic anemia semapv:MappingInversion +MONDO:0020102 hereditary stomatocytosis skos:closeMatch NANDO:2200623 Hereditary stomatocytosis semapv:MappingInversion +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch NANDO:1200305 Autoimmune hemolytic anemia semapv:MappingInversion +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch NANDO:2100181 Autoimmune hemolytic anemia semapv:MappingInversion +MONDO:0020121 muscular dystrophy skos:closeMatch NANDO:1200486 Muscular dystrophy semapv:MappingInversion +MONDO:0020121 muscular dystrophy skos:closeMatch NANDO:2100233 Muscular dystrophy semapv:MappingInversion +MONDO:0020242 hereditary macular dystrophy skos:closeMatch NANDO:1200931 Macular dystrophy semapv:MappingInversion +MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch NANDO:2200014 Chronic myelomonocytic leukemia semapv:MappingInversion +MONDO:0020320 acute myeloblastic leukemia with maturation skos:closeMatch NANDO:2200006 Acute myeloid leukemia with maturation semapv:MappingInversion +MONDO:0020321 acute undifferentiated leukemia skos:closeMatch NANDO:2200017 Acute undifferentiated leukemia semapv:MappingInversion +MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch NANDO:2200021 Anaplastic large cell lymphoma semapv:MappingInversion +MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:closeMatch NANDO:1200886 Congenital dyserythropoietic anemia type I semapv:MappingInversion +MONDO:0020338 adult pure red cell aplasia skos:closeMatch NANDO:1200889 Acquired pure red cell aplasia semapv:MappingInversion +MONDO:0020338 adult pure red cell aplasia skos:closeMatch NANDO:2200613 Acquired pure red cell aplasia semapv:MappingInversion +MONDO:0020341 periventricular nodular heterotopia skos:closeMatch NANDO:1201079 Periventricular nodular heterotopia semapv:MappingInversion +MONDO:0020352 multiple system atrophy, parkinsonian type skos:closeMatch NANDO:1200036 Multiple system atrophy, Parkinsonian type semapv:MappingInversion +MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation skos:closeMatch NANDO:1200703 Complete transposition of the great arteries (Group4) semapv:MappingInversion +MONDO:0020391 pulmonary artery coming from the aorta skos:closeMatch NANDO:2200281 Origin of pulmonary artery from ascending aorta semapv:MappingInversion +MONDO:0020398 congenital mitral stenosis skos:closeMatch NANDO:1200963 Congenital mitral stenosis semapv:MappingInversion +MONDO:0020400 congenital supravalvular mitral ring skos:closeMatch NANDO:2200308 Supramitral ring semapv:MappingInversion +MONDO:0020413 encircling double aortic arch skos:closeMatch NANDO:2200290 Double aortic arch disease semapv:MappingInversion +MONDO:0020428 congenital Gerbode defect skos:closeMatch NANDO:2100090 Left ventricular-right atrial communication semapv:MappingInversion +MONDO:0020428 congenital Gerbode defect skos:closeMatch NANDO:2200274 Left ventricular-right atrial communication semapv:MappingInversion +MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch NANDO:2200266 Atrial septal defect, ostium secundum type semapv:MappingInversion +MONDO:0020436 atrial septal defect, sinus venosus type skos:closeMatch NANDO:2200267 Atrial septal defect, sinus venosus type semapv:MappingInversion +MONDO:0020439 patent foramen ovale skos:closeMatch NANDO:2200266 Atrial septal defect, ostium secundum type semapv:MappingInversion +MONDO:0020453 congenital partial pulmonary venous return anomaly skos:closeMatch NANDO:2200272 Partial anomalous pulmonary venous connection semapv:MappingInversion +MONDO:0020459 unstable hemoglobin disease skos:closeMatch NANDO:2200625 Unstable hemoglobin disease semapv:MappingInversion +MONDO:0020460 acquired von willebrand syndrome skos:closeMatch NANDO:1200899 Acquired von Willebrand disease semapv:MappingInversion +MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis skos:closeMatch NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis semapv:MappingInversion +MONDO:0020479 pituitary gigantism skos:closeMatch NANDO:2100111 Pituitary gigantism semapv:MappingInversion +MONDO:0020479 pituitary gigantism skos:closeMatch NANDO:2200314 Pituitary gigantism semapv:MappingInversion +MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:closeMatch NANDO:2200365 Aldosterone synthase deficiency semapv:MappingInversion +MONDO:0020491 subcortical band heterotopia skos:closeMatch NANDO:1201070 Subcortical band heterotopia semapv:MappingInversion +MONDO:0020492 hemimegalencephaly skos:closeMatch NANDO:1200563 Hemimegalencephaly semapv:MappingInversion +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch NANDO:2200001 B-cell precursor lymphoblastic leukemia semapv:MappingInversion +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch NANDO:2200022 Precursor B lymphoblastic lymphoma semapv:MappingInversion +MONDO:0020547 chronic graft versus host disease skos:closeMatch NANDO:2100213 Chronic graft-versus-host disease semapv:MappingInversion +MONDO:0020547 chronic graft versus host disease skos:closeMatch NANDO:2200812 Chronic graft-versus-host disease semapv:MappingInversion +MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch NANDO:2200101 Atypical teratoid, rhabdoid tumour semapv:MappingInversion +MONDO:0020586 factor V deficiency skos:closeMatch NANDO:2200674 Factor V deficiency semapv:MappingInversion +MONDO:0020587 factor XI deficiency skos:closeMatch NANDO:2200679 Factor XI deficiency semapv:MappingInversion +MONDO:0020599 acquired coagulation factor deficiency skos:closeMatch NANDO:1200896 Autoimmune acquired coagulation factor deficiency semapv:MappingInversion +MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch NANDO:1200630 Conradi Hünermann Happle syndrome semapv:MappingInversion +MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type semapv:MappingInversion +MONDO:0020640 autoimmune encephalitis skos:closeMatch NANDO:2100248 Autoimmune encephalitis semapv:MappingInversion +MONDO:0020640 autoimmune encephalitis skos:closeMatch NANDO:2200902 Autoimmune encephalitis semapv:MappingInversion +MONDO:0020642 polycystic kidney disease skos:closeMatch NANDO:1200367 Polycystic kidney disease semapv:MappingInversion +MONDO:0020642 polycystic kidney disease skos:closeMatch NANDO:2200152 Polycystic kidney disease semapv:MappingInversion +MONDO:0020690 adult glioblastoma skos:closeMatch NANDO:2200087 Glioblastoma semapv:MappingInversion +MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:closeMatch NANDO:1200611 Autosomal dominant epidermolytic ichthyosis semapv:MappingInversion +MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:closeMatch NANDO:2200988 Autosomal dominant epidermolytic ichthyosis semapv:MappingInversion +MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch NANDO:2200018 Mixed phenotype acute leukemia semapv:MappingInversion +MONDO:0020793 oculopharyngodistal myopathy 1 skos:closeMatch NANDO:1200219 Oculopharyngodistal myopathy semapv:MappingInversion +MONDO:0020803 obsolete bundle branch block skos:closeMatch NANDO:2100046 Bundle branch block semapv:MappingInversion +MONDO:0020803 obsolete bundle branch block skos:closeMatch NANDO:2200215 Bundle branch block semapv:MappingInversion +MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch NANDO:2200915 Familial adenomatous polyposis semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:closeMatch NANDO:1200225 Neurofibromatosis semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:closeMatch NANDO:1200226 Neurofibromatosis type 1 semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:closeMatch NANDO:1200227 Neurofibromatosis type 2 semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:closeMatch NANDO:2201003 von Recklinghausen's disease semapv:MappingInversion +MONDO:0021081 anti-NMDA receptor encephalitis skos:closeMatch NANDO:2201317 Anti-NMDA receptor encephalitis semapv:MappingInversion +MONDO:0021094 immunodeficiency disease skos:closeMatch NANDO:2100204 Immunodeficiency semapv:MappingInversion +MONDO:0021133 acquired factor XIII deficiency skos:closeMatch NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 semapv:MappingInversion +MONDO:0021134 acquired factor X deficiency skos:closeMatch NANDO:1201048 Acquired factor X inhibitor semapv:MappingInversion +MONDO:0021209 heart neoplasm skos:closeMatch NANDO:2100061 Cardiac tumor semapv:MappingInversion +MONDO:0021209 heart neoplasm skos:closeMatch NANDO:2200236 Cardiac tumor semapv:MappingInversion +MONDO:0021902 aortopulmonary window skos:closeMatch NANDO:2100082 Aorto-pulmonary window semapv:MappingInversion +MONDO:0021902 aortopulmonary window skos:closeMatch NANDO:2200262 Aorto-pulmonary window semapv:MappingInversion +MONDO:0021915 arakawa syndrome 2 skos:closeMatch NANDO:2201111 Methylcobalamin deficiency cblG type semapv:MappingInversion +MONDO:0021969 Banti syndrome skos:closeMatch NANDO:1200438 Idiopathic portal hypertension semapv:MappingInversion +MONDO:0022205 pustular psoriasis skos:closeMatch NANDO:1200240 Pustular psoriasis semapv:MappingInversion +MONDO:0022205 pustular psoriasis skos:closeMatch NANDO:2100285 Pustular psoriasis semapv:MappingInversion +MONDO:0022205 pustular psoriasis skos:closeMatch NANDO:2201001 Pustular psoriasis semapv:MappingInversion +MONDO:0022308 corticobasal degeneration disorder skos:closeMatch NANDO:1200011 Corticobasal degeneration semapv:MappingInversion +MONDO:0022402 agyria-pachygyria type 1 skos:closeMatch NANDO:1201068 Agyria semapv:MappingInversion +MONDO:0022402 agyria-pachygyria type 1 skos:closeMatch NANDO:1201069 Pachygyria semapv:MappingInversion +MONDO:0022424 alpha-mannosidosis type 1 skos:closeMatch NANDO:1200127 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0022424 alpha-mannosidosis type 1 skos:closeMatch NANDO:2201188 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0022800 type 2 collagenopathy skos:closeMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion +MONDO:0022858 continuous spike-wave during slow sleep syndrome skos:closeMatch NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep semapv:MappingInversion +MONDO:0022880 obsolete corticobasal degeneration skos:closeMatch NANDO:1200011 Corticobasal degeneration semapv:MappingInversion +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:closeMatch NANDO:1200841 Hepatic glycogen storage disease type Ib semapv:MappingInversion +MONDO:0023419 hyperprolinemia skos:closeMatch NANDO:2200471 Hyperprolinemia semapv:MappingInversion +MONDO:0024291 vascular malformation skos:closeMatch NANDO:2100295 Vascular malformation semapv:MappingInversion +MONDO:0024299 vitamin D-dependent rickets skos:closeMatch NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia semapv:MappingInversion +MONDO:0024299 vitamin D-dependent rickets skos:closeMatch NANDO:2100144 Vitamin D-dependent rickets semapv:MappingInversion +MONDO:0024299 vitamin D-dependent rickets skos:closeMatch NANDO:2200401 Vitamin D-dependent rickets semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NANDO:1200780 Vitamin D-resistant osteomalacia semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NANDO:2200402 Vitamin D-resistant osteomalacia semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NANDO:2200403 Primary hypophosphatemic rickets semapv:MappingInversion +MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:closeMatch NANDO:1200643 Pseudoxanthoma elasticum semapv:MappingInversion +MONDO:0024327 chronic renal failure syndrome skos:closeMatch NANDO:2100023 Chronic renal failure semapv:MappingInversion +MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A semapv:MappingInversion +MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch NANDO:1200408 MC2R deficiency semapv:MappingInversion +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch NANDO:1200208 Familial idiopathic basal ganglia calcification semapv:MappingInversion +MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch NANDO:2200682 Von Willebrand disease semapv:MappingInversion +MONDO:0024623 otorhinolaryngologic disease skos:closeMatch NANDO:1100015 Otorhinolaryngological disease semapv:MappingInversion +MONDO:0024644 myocardial ischemia skos:closeMatch NANDO:2100070 Ischemic heart disease semapv:MappingInversion +MONDO:0024677 pancreatic insulinoma skos:closeMatch NANDO:2200398 Insulinoma semapv:MappingInversion +MONDO:0024746 immature teratoma skos:closeMatch NANDO:2200106 Immature teratoma semapv:MappingInversion +MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch NANDO:1200219 Oculopharyngodistal myopathy semapv:MappingInversion +MONDO:0028737 obsolete biliary atresia disorder skos:closeMatch NANDO:1200913 Biliary atresia semapv:MappingInversion +MONDO:0028737 obsolete biliary atresia disorder skos:closeMatch NANDO:2200930 biliary atresia semapv:MappingInversion +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:closeMatch NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:closeMatch NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0037792 carbohydrate metabolism disease skos:closeMatch NANDO:2100164 Disorder of carbohydrate metabolism semapv:MappingInversion +MONDO:0037858 inherited fatty acid metabolism disorder skos:closeMatch NANDO:2100162 Disorder of fatty-acid metabolism semapv:MappingInversion +MONDO:0037871 amino acid metabolism disease skos:closeMatch NANDO:2100160 Disorder of amino acid metabolism semapv:MappingInversion +MONDO:0037939 porphyria skos:closeMatch NANDO:1200811 Porphyria semapv:MappingInversion +MONDO:0042727 sacrococcygeal teratoma skos:closeMatch NANDO:2100216 Sacrococcygeal teratoma semapv:MappingInversion +MONDO:0042727 sacrococcygeal teratoma skos:closeMatch NANDO:2200816 Sacrococcygeal teratoma semapv:MappingInversion +MONDO:0042727 sacrococcygeal teratoma skos:closeMatch NANDO:2201287 Altman type IV sacrococcygeal teratoma semapv:MappingInversion +MONDO:0042981 aortic valve stenosis skos:closeMatch NANDO:2200306 Aortic valve stenosis semapv:MappingInversion +MONDO:0042983 neurocutaneous syndrome skos:closeMatch NANDO:2100220 Neurocutaneous syndrome semapv:MappingInversion +MONDO:0043094 ichthyosis, follicular skos:closeMatch NANDO:1200628 Ichthyosis follicularis semapv:MappingInversion +MONDO:0043152 negative rheumatoid factor polyarthritis skos:closeMatch NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0043267 rheumatoid vasculitis skos:closeMatch NANDO:1200265 Rheumatoid vasculitis semapv:MappingInversion +MONDO:0043317 amyopathic dermatomyositis skos:closeMatch NANDO:1200275 Amyopathic dermatomyositis semapv:MappingInversion +MONDO:0043472 ectopic ACTH secretion syndrome skos:closeMatch NANDO:2200351 Ectopic ACTH syndrome semapv:MappingInversion +MONDO:0043768 thrombocytopenic purpura skos:closeMatch NANDO:2100188 Thrombocytopenic purpura semapv:MappingInversion +MONDO:0044354 obsolete Rosai-Dorfman disease skos:closeMatch NANDO:2200039 Rosai-Dorfman disease semapv:MappingInversion +MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:closeMatch NANDO:1200612 Autosomal recessive epidermolytic ichthyosis semapv:MappingInversion +MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:closeMatch NANDO:2200989 Autosomal recessive epidermolytic ichthyosis semapv:MappingInversion +MONDO:0044744 prekallikrein deficiency skos:closeMatch NANDO:2200684 Congenital prekallikrein deficiency semapv:MappingInversion +MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:closeMatch NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma semapv:MappingInversion +MONDO:0044807 inherited dystonia skos:closeMatch NANDO:1200511 Hereditary dystonia semapv:MappingInversion +MONDO:0044808 obsolete early onset primary dystonia skos:closeMatch NANDO:1200512 Dystonia 1 semapv:MappingInversion +MONDO:0044873 childhood myelodysplastic syndrome skos:closeMatch NANDO:2100003 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0044873 childhood myelodysplastic syndrome skos:closeMatch NANDO:2200019 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0044903 myelofibrosis skos:closeMatch NANDO:2100200 Myelofibrosis semapv:MappingInversion +MONDO:0044903 myelofibrosis skos:closeMatch NANDO:2200692 Myelofibrosis semapv:MappingInversion +MONDO:0044917 T-lymphoblastic lymphoma skos:closeMatch NANDO:2200023 Precursor T lymphoblastic lymphoma semapv:MappingInversion +MONDO:0044970 mitochondrial disease skos:closeMatch NANDO:1200173 Mitochondrial diseases semapv:MappingInversion +MONDO:0044970 mitochondrial disease skos:closeMatch NANDO:2100163 Mitochondrial diseases semapv:MappingInversion +MONDO:0045022 disorder of organic acid metabolism skos:closeMatch NANDO:2100161 Disorder of organic acid metabolism semapv:MappingInversion +MONDO:0045045 selective IgG immunodeficiency skos:closeMatch NANDO:1200346 IgG subclass deficiency semapv:MappingInversion +MONDO:0100025 epilepsy of infancy with migrating focal seizures skos:closeMatch NANDO:1200595 Epilepsy of infancy with migrating focal seizures semapv:MappingInversion +MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch NANDO:1200593 Ohtahara syndrome semapv:MappingInversion +MONDO:0100064 tyrosine hydroxylase deficiency skos:closeMatch NANDO:2200595 Tyrosine hydroxylase deficiency semapv:MappingInversion +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch NANDO:2200662 Familial platelet disorder with propensity to myeloid. semapv:MappingInversion +MONDO:0100133 mitochondrial complex I deficiency skos:closeMatch NANDO:1200180 Mitochondrial complex I deficiency semapv:MappingInversion +MONDO:0100135 Dravet syndrome skos:closeMatch NANDO:1200587 Dravet syndrome semapv:MappingInversion +MONDO:0100135 Dravet syndrome skos:closeMatch NANDO:2200877 Severe myoclonic epilepsy in infancy semapv:MappingInversion +MONDO:0100151 nephropathic cystinosis skos:closeMatch NANDO:1200162 Nephropathic cystinosis semapv:MappingInversion +MONDO:0100151 nephropathic cystinosis skos:closeMatch NANDO:2201234 Nephropathic cystinosis semapv:MappingInversion +MONDO:0100189 apolipoprotein A-I deficiency skos:closeMatch NANDO:2200605 HDL deficiency semapv:MappingInversion +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch NANDO:2200737 STAT5b deficiency semapv:MappingInversion +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome semapv:MappingInversion +MONDO:0100222 A20 haploinsufficiency skos:closeMatch NANDO:1200997 A20 haploinsufficiency semapv:MappingInversion +MONDO:0100222 A20 haploinsufficiency skos:closeMatch NANDO:2200458 A20 haploinsufficiency semapv:MappingInversion +MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch NANDO:1200180 Mitochondrial complex I deficiency semapv:MappingInversion + diff --git a/src/mappings/nando-mondo.sssom.tsv b/src/mappings/nando-mondo.sssom.tsv new file mode 100644 index 00000000..80fce8c4 --- /dev/null +++ b/src/mappings/nando-mondo.sssom.tsv @@ -0,0 +1,2357 @@ +#curie_map: +# NANDO: "http://nanbyodata.jp/ontology/NANDO_" +# MONDO: "http://purl.obolibrary.org/obo/MONDO_" +# orcid: "https://orcid.org/" +#creator_id: +# - "orcid:0000-0003-0011-764X" +# - "orcid:0000-0002-0170-9172" +#license: "https://creativecommons.org/licenses/by/4.0/" +#mapping_set_title: "NANDO - Mondo mappings provided by nanbyodata.jp" +#mapping_set_description: "This mapping set is manually curated by the NANDO team at nanbyodata.jp." +#mapping_provider: "http://nanbyodata.jp" +subject_id subject_label predicate_id object_id object_label mapping_justification +NANDO:1100001 Neuromuscular disease skos:closeMatch MONDO:0019056 neuromuscular disease semapv:ManualMappingCuration +NANDO:1100002 Metabolic disease skos:closeMatch MONDO:0004955 obsolete metabolic syndrome semapv:ManualMappingCuration +NANDO:1100002 Metabolic disease skos:closeMatch MONDO:0005066 metabolic disease semapv:ManualMappingCuration +NANDO:1100004 Immune system disease skos:closeMatch MONDO:0005046 immune system disorder semapv:ManualMappingCuration +NANDO:1100005 Cardiovascular disease skos:closeMatch MONDO:0004995 cardiovascular disorder semapv:ManualMappingCuration +NANDO:1100006 Blood disease skos:closeMatch MONDO:0005570 hematologic disorder semapv:ManualMappingCuration +NANDO:1100009 Endocrine disease skos:closeMatch MONDO:0005151 endocrine system disorder semapv:ManualMappingCuration +NANDO:1100010 Respiratory disease skos:closeMatch MONDO:0005087 respiratory system disorder semapv:ManualMappingCuration +NANDO:1100013 Gastrointestinal disease skos:closeMatch MONDO:0004335 digestive system disorder semapv:ManualMappingCuration +NANDO:1100014 Chromosome abnormality skos:closeMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration +NANDO:1100015 Otorhinolaryngological disease skos:closeMatch MONDO:0024623 otorhinolaryngologic disease semapv:ManualMappingCuration +NANDO:1200001 Spinal and bulbar muscular atrophy skos:closeMatch MONDO:0010735 Kennedy disease semapv:ManualMappingCuration +NANDO:1200001 Spinal and bulbar muscular atrophy skos:closeMatch MONDO:0016113 bulbospinal muscular atrophy semapv:ManualMappingCuration +NANDO:1200002 Amyotrophic lateral sclerosis skos:closeMatch MONDO:0004976 amyotrophic lateral sclerosis semapv:ManualMappingCuration +NANDO:1200003 Spinal muscular atrophy skos:closeMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration +NANDO:1200004 Spinal muscular atrophy type I skos:closeMatch MONDO:0009669 spinal muscular atrophy, type 1 semapv:ManualMappingCuration +NANDO:1200005 Spinal muscular atrophy type II skos:closeMatch MONDO:0009673 spinal muscular atrophy, type II semapv:ManualMappingCuration +NANDO:1200006 Spinal muscular atrophy type III skos:closeMatch MONDO:0009672 spinal muscular atrophy, type III semapv:ManualMappingCuration +NANDO:1200007 Spinal muscular atrophy type IV skos:closeMatch MONDO:0010056 spinal muscular atrophy, type IV semapv:ManualMappingCuration +NANDO:1200008 Primary lateral sclerosis skos:closeMatch MONDO:0018155 lateral sclerosis semapv:ManualMappingCuration +NANDO:1200009 Progressive supranuclear palsy skos:closeMatch MONDO:0019037 progressive supranuclear palsy semapv:ManualMappingCuration +NANDO:1200010 Parkinson's disease skos:closeMatch MONDO:0005180 Parkinson disease semapv:ManualMappingCuration +NANDO:1200011 Corticobasal degeneration skos:closeMatch MONDO:0022308 corticobasal degeneration disorder semapv:ManualMappingCuration +NANDO:1200011 Corticobasal degeneration skos:closeMatch MONDO:0022880 obsolete corticobasal degeneration semapv:ManualMappingCuration +NANDO:1200012 Huntington's disease skos:closeMatch MONDO:0007739 Huntington disease semapv:ManualMappingCuration +NANDO:1200013 Neuroacanthocytosis skos:closeMatch MONDO:0016987 neuroacanthocytosis semapv:ManualMappingCuration +NANDO:1200014 Chorea-acanthocytosis skos:closeMatch MONDO:0008695 chorea-acanthocytosis semapv:ManualMappingCuration +NANDO:1200015 McLeod syndrome skos:closeMatch MONDO:0018945 McLeod neuroacanthocytosis syndrome semapv:ManualMappingCuration +NANDO:1200016 Charcot-Marie-Tooth disease skos:closeMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualMappingCuration +NANDO:1200017 Charcot-Marie-Tooth disease type 1 skos:closeMatch MONDO:0019011 Charcot-Marie-Tooth disease type 1 semapv:ManualMappingCuration +NANDO:1200018 Charcot-Marie-Tooth disease type 2 skos:closeMatch MONDO:0018993 Charcot-Marie-Tooth disease type 2 semapv:ManualMappingCuration +NANDO:1200019 Intermediate Charcot-Marie-Tooth disease skos:closeMatch MONDO:0018778 intermediate Charcot-Marie-Tooth disease semapv:ManualMappingCuration +NANDO:1200020 Myasthenia gravis skos:closeMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration +NANDO:1200021 Congenital myasthenic syndrome skos:closeMatch MONDO:0018940 congenital myasthenic syndrome semapv:ManualMappingCuration +NANDO:1200023 Multiple sclerosis skos:closeMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration +NANDO:1200024 Relapsing-remitting multiple sclerosis skos:closeMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualMappingCuration +NANDO:1200025 Primary progressive multiple sclerosis skos:closeMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:1200026 Secondary progressive multiple sclerosis skos:closeMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:1200027 Neuromyelitis optica spectrum disorders skos:closeMatch MONDO:0019100 neuromyelitis optica semapv:ManualMappingCuration +NANDO:1200028 Baló concentric sclerosis skos:closeMatch MONDO:0016430 Balo concentric sclerosis semapv:ManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration +NANDO:1200031 Multifocal motor neuropathy skos:closeMatch MONDO:0018979 multifocal motor neuropathy semapv:ManualMappingCuration +NANDO:1200032 Sporadic inclusion body myositis skos:closeMatch MONDO:0007827 inclusion body myositis semapv:ManualMappingCuration +NANDO:1200033 Crow-Fukase syndrome skos:closeMatch MONDO:0017364 POEMS syndrome semapv:ManualMappingCuration +NANDO:1200034 Multiple system atrophy skos:closeMatch MONDO:0007803 multiple system atrophy semapv:ManualMappingCuration +NANDO:1200035 Multiple system atrophy, cerebellar type skos:closeMatch MONDO:0016418 multiple system atrophy, cerebellar type semapv:ManualMappingCuration +NANDO:1200036 Multiple system atrophy, Parkinsonian type skos:closeMatch MONDO:0020352 multiple system atrophy, parkinsonian type semapv:ManualMappingCuration +NANDO:1200037 Spinocerebellar degeneration skos:closeMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration +NANDO:1200041 Spinocerebellar ataxia type 3 skos:closeMatch MONDO:0007182 Machado-Joseph disease semapv:ManualMappingCuration +NANDO:1200042 Spinocerebellar ataxia type 6 skos:closeMatch MONDO:0008457 spinocerebellar ataxia type 6 semapv:ManualMappingCuration +NANDO:1200043 Dentatorubropallidoluysian atrophy skos:closeMatch MONDO:0007435 dentatorubral-pallidoluysian atrophy semapv:ManualMappingCuration +NANDO:1200044 Spinocerebellar ataxia type 31 skos:closeMatch MONDO:0007296 spinocerebellar ataxia type 31 semapv:ManualMappingCuration +NANDO:1200045 Spinocerebellar ataxia type 1 skos:closeMatch MONDO:0008119 spinocerebellar ataxia type 1 semapv:ManualMappingCuration +NANDO:1200046 Spinocerebellar ataxia type 2 skos:closeMatch MONDO:0008458 spinocerebellar ataxia type 2 semapv:ManualMappingCuration +NANDO:1200047 Spinocerebellar ataxia type 7 skos:closeMatch MONDO:0008120 obsolete spinocerebellar ataxia type 7 semapv:ManualMappingCuration +NANDO:1200048 Spinocerebellar ataxia type 36 skos:closeMatch MONDO:0013594 spinocerebellar ataxia type 36 semapv:ManualMappingCuration +NANDO:1200050 Ataxia with isolated vitamin E deficiency skos:closeMatch MONDO:0010188 familial isolated deficiency of vitamin E semapv:ManualMappingCuration +NANDO:1200051 Ataxia-oculomotor apraxia type 1 skos:closeMatch MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:ManualMappingCuration +NANDO:1200052 Hereditary spastic paraplegia skos:closeMatch MONDO:0019064 hereditary spastic paraplegia semapv:ManualMappingCuration +NANDO:1200053 Pure hereditary spastic paraplegia skos:closeMatch MONDO:0015149 pure hereditary spastic paraplegia semapv:ManualMappingCuration +NANDO:1200054 Complex hereditary spastic paraplegia skos:closeMatch MONDO:0015150 complex hereditary spastic paraplegia semapv:ManualMappingCuration +NANDO:1200055 Lysosomal storage disease skos:closeMatch MONDO:0002561 lysosomal storage disease semapv:ManualMappingCuration +NANDO:1200056 Gaucher disease skos:closeMatch MONDO:0018150 Gaucher disease semapv:ManualMappingCuration +NANDO:1200057 Gaucher disease type 1 skos:closeMatch MONDO:0009265 Gaucher disease type I semapv:ManualMappingCuration +NANDO:1200058 Gaucher disease type 2 skos:closeMatch MONDO:0009266 Gaucher disease type II semapv:ManualMappingCuration +NANDO:1200059 Gaucher disease type 3 skos:closeMatch MONDO:0009267 Gaucher disease type III semapv:ManualMappingCuration +NANDO:1200061 Niemann-Pick disease type A skos:closeMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualMappingCuration +NANDO:1200062 Niemann-Pick disease type B skos:closeMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualMappingCuration +NANDO:1200063 Niemann-Pick disease type C skos:closeMatch MONDO:0018982 Niemann-Pick disease type C semapv:ManualMappingCuration +NANDO:1200065 Adult-onset Niemann-Pick disease type C skos:closeMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualMappingCuration +NANDO:1200066 GM1 gangliosidosis skos:closeMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualMappingCuration +NANDO:1200067 Infantile GM1 gangliosidosis skos:closeMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualMappingCuration +NANDO:1200068 Juvenile GM1 gangliosidosis skos:closeMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualMappingCuration +NANDO:1200069 Adult GM1 gangliosidosis skos:closeMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualMappingCuration +NANDO:1200070 GM2 gangliosidosis skos:closeMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualMappingCuration +NANDO:1200071 Tay-Sachs disease skos:closeMatch MONDO:0010100 Tay-Sachs disease semapv:ManualMappingCuration +NANDO:1200072 Sandhoff disease skos:closeMatch MONDO:0010006 Sandhoff disease semapv:ManualMappingCuration +NANDO:1200073 GM2 gangliosidosis AB variant skos:closeMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualMappingCuration +NANDO:1200074 Krabbe disease skos:closeMatch MONDO:0009499 Krabbe disease semapv:ManualMappingCuration +NANDO:1200075 Infantile Krabbe disease skos:closeMatch MONDO:0016089 infantile Krabbe disease semapv:ManualMappingCuration +NANDO:1200077 Adult Krabbe disease skos:closeMatch MONDO:0016091 adult Krabbe disease semapv:ManualMappingCuration +NANDO:1200078 Metachromatic leukodystrophy skos:closeMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualMappingCuration +NANDO:1200080 Juvenile ｍetachromatic leukodystrophy skos:closeMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualMappingCuration +NANDO:1200082 Saposin B deficiency skos:closeMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualMappingCuration +NANDO:1200083 Multiple sulfatase deficiency skos:closeMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration +NANDO:1200086 Farber disease skos:closeMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualMappingCuration +NANDO:1200094 Hurler syndrome skos:closeMatch MONDO:0011758 Hurler syndrome semapv:ManualMappingCuration +NANDO:1200095 Scheie syndrome skos:closeMatch MONDO:0011760 Scheie syndrome semapv:ManualMappingCuration +NANDO:1200096 Hurler-Scheie syndrome skos:closeMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualMappingCuration +NANDO:1200097 Hunter syndrome skos:closeMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualMappingCuration +NANDO:1200098 Hunter syndrome type A skos:closeMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualMappingCuration +NANDO:1200099 Hunter syndrome type B skos:closeMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration +NANDO:1200100 Sanfilippo disease skos:closeMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualMappingCuration +NANDO:1200101 Sanfilippo disease type A skos:closeMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualMappingCuration +NANDO:1200102 Sanfilippo disease type B skos:closeMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualMappingCuration +NANDO:1200103 Sanfilippo disease type C skos:closeMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualMappingCuration +NANDO:1200104 Sanfilippo disease type D skos:closeMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualMappingCuration +NANDO:1200105 Morquio syndrome skos:closeMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualMappingCuration +NANDO:1200106 Morquio syndrome type A skos:closeMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualMappingCuration +NANDO:1200107 Morquio syndrome type B skos:closeMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualMappingCuration +NANDO:1200108 Maroteaux-Lamy syndrome skos:closeMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form skos:closeMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form skos:closeMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:1200111 Sly syndrome skos:closeMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualMappingCuration +NANDO:1200115 Hyaluronidase deficiency skos:closeMatch MONDO:0011093 mucopolysaccharidosis type 9 semapv:ManualMappingCuration +NANDO:1200116 Sialidosis skos:closeMatch MONDO:0017734 sialidosis semapv:ManualMappingCuration +NANDO:1200117 Sialidosis type 1 skos:closeMatch MONDO:0019346 sialidosis type 1 semapv:ManualMappingCuration +NANDO:1200118 Sialidosis type 2 skos:closeMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:1200119 Galactosialidosis skos:closeMatch MONDO:0009737 galactosialidosis semapv:ManualMappingCuration +NANDO:1200120 Galactosialidosis, early infantile form skos:closeMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:1200124 Mucolipidosis II skos:closeMatch MONDO:0009650 mucolipidosis type II semapv:ManualMappingCuration +NANDO:1200125 Mucolipidosis III skos:closeMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualMappingCuration +NANDO:1200126 Alpha-mannosidosis skos:closeMatch MONDO:0009561 alpha-mannosidosis semapv:ManualMappingCuration +NANDO:1200127 Alpha-mannosidosis, infantile form skos:closeMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualMappingCuration +NANDO:1200127 Alpha-mannosidosis, infantile form skos:closeMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualMappingCuration +NANDO:1200128 Alpha-mannosidosis, adult form skos:closeMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualMappingCuration +NANDO:1200129 Beta-mannosidosis skos:closeMatch MONDO:0009562 beta-mannosidosis semapv:ManualMappingCuration +NANDO:1200130 Fucosidosis skos:closeMatch MONDO:0009254 fucosidosis semapv:ManualMappingCuration +NANDO:1200133 Aspartylglucosaminuria skos:closeMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualMappingCuration +NANDO:1200134 Schindler disease skos:closeMatch MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency semapv:ManualMappingCuration +NANDO:1200135 Schindler disease type I skos:closeMatch MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 semapv:ManualMappingCuration +NANDO:1200136 Schindler disease type 2 skos:closeMatch MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 semapv:ManualMappingCuration +NANDO:1200137 Schindler disease type 3 skos:closeMatch MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 semapv:ManualMappingCuration +NANDO:1200138 Pompe disease skos:closeMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration +NANDO:1200139 Classic infantile Pompe disease skos:closeMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualMappingCuration +NANDO:1200142 Acid lipase deficiency skos:closeMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:1200143 Wolman disease skos:closeMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:1200144 Cholesterol ester storage disease skos:closeMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualMappingCuration +NANDO:1200145 Danon disease skos:closeMatch MONDO:0010281 Danon disease semapv:ManualMappingCuration +NANDO:1200146 Free sialic acid storage disease skos:closeMatch MONDO:0019366 free sialic acid storage disease semapv:ManualMappingCuration +NANDO:1200147 Infantile free sialic acid storage disease skos:closeMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualMappingCuration +NANDO:1200148 Intermediate severe Salla disease skos:closeMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualMappingCuration +NANDO:1200149 Salla disease skos:closeMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration +NANDO:1200150 Neuronal ceroid-lipofuscinosis skos:closeMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200151 Congenital neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualMappingCuration +NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualMappingCuration +NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200155 Adult neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200157 Fabry disease skos:closeMatch MONDO:0010526 Fabry disease semapv:ManualMappingCuration +NANDO:1200161 Cystinosis skos:closeMatch MONDO:0016239 cystinosis semapv:ManualMappingCuration +NANDO:1200162 Nephropathic cystinosis skos:closeMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualMappingCuration +NANDO:1200162 Nephropathic cystinosis skos:closeMatch MONDO:0100151 nephropathic cystinosis semapv:ManualMappingCuration +NANDO:1200163 Intermediate cystinosis skos:closeMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualMappingCuration +NANDO:1200164 Non-nephropathic cystinosis skos:closeMatch MONDO:0009064 ocular cystinosis semapv:ManualMappingCuration +NANDO:1200165 Adrenoleukodystrophy skos:closeMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200166 Childhood cerebral adrenoleukodystrophy skos:closeMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200168 Adrenomyeloneuropathy skos:closeMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualMappingCuration +NANDO:1200173 Mitochondrial diseases skos:closeMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualMappingCuration +NANDO:1200173 Mitochondrial diseases skos:closeMatch MONDO:0044970 mitochondrial disease semapv:ManualMappingCuration +NANDO:1200175 Leigh's encephalomyelopathy skos:closeMatch MONDO:0009723 Leigh syndrome semapv:ManualMappingCuration +NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome skos:closeMatch MONDO:0010789 MELAS syndrome semapv:ManualMappingCuration +NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers skos:closeMatch MONDO:0010790 MERRF syndrome semapv:ManualMappingCuration +NANDO:1200178 Leber hereditary optic neuropathy skos:closeMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualMappingCuration +NANDO:1200180 Mitochondrial complex I deficiency skos:closeMatch MONDO:0100133 mitochondrial complex I deficiency semapv:ManualMappingCuration +NANDO:1200180 Mitochondrial complex I deficiency skos:closeMatch MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 semapv:ManualMappingCuration +NANDO:1200181 Mitochondrial complex II deficiency skos:closeMatch MONDO:0009641 obsolete mitochondrial complex II deficiency semapv:ManualMappingCuration +NANDO:1200183 Moyamoya disease skos:closeMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration +NANDO:1200186 Prion disease skos:closeMatch MONDO:0005429 prion disease semapv:ManualMappingCuration +NANDO:1200187 Sporadic Creutzfeldt-Jakob disease skos:closeMatch MONDO:0016079 sporadic Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200188 Genetic prion diseases skos:closeMatch MONDO:0017234 inherited prion disease semapv:ManualMappingCuration +NANDO:1200189 Familial Creutzfeldt-Jakob disease skos:closeMatch MONDO:0007403 inherited Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome semapv:ManualMappingCuration +NANDO:1200191 Fatal familial insomnia skos:closeMatch MONDO:0010808 fatal familial insomnia semapv:ManualMappingCuration +NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease skos:closeMatch MONDO:0018686 acquired Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease skos:closeMatch MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200194 Variant Creutzfeldt-Jakob disease skos:closeMatch MONDO:0007012 variant Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200195 Subacute sclerosing panencephalitis skos:closeMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:1200196 Typical subacute sclerosing panencephalitis skos:closeMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:1200198 Subacute progressive sclerosing panencephalitis skos:closeMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:1200205 Progressive multifocal leukoencephalopathy skos:closeMatch MONDO:0016318 progressive multifocal leukoencephalopathy semapv:ManualMappingCuration +NANDO:1200206 HTLV-1-associated myelopathy skos:closeMatch MONDO:0008039 tropical spastic paraparesis semapv:ManualMappingCuration +NANDO:1200207 Idiopathic basal ganglia calcification skos:closeMatch MONDO:0008947 bilateral striopallidodentate calcinosis semapv:ManualMappingCuration +NANDO:1200208 Familial idiopathic basal ganglia calcification skos:closeMatch MONDO:0024538 basal ganglia calcification, idiopathic, 1 semapv:ManualMappingCuration +NANDO:1200209 Systemic amyloidosis skos:closeMatch MONDO:0017816 primary systemic amyloidosis semapv:ManualMappingCuration +NANDO:1200211 Amyloid light-chain amyloidosis skos:closeMatch MONDO:0019438 AL amyloidosis semapv:ManualMappingCuration +NANDO:1200212 Transthyretin-related senile systemic amyloidosis skos:closeMatch MONDO:0018018 wild type ATTR amyloidosis semapv:ManualMappingCuration +NANDO:1200214 Familial amyloid polyneuropathy skos:closeMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualMappingCuration +NANDO:1200215 Ullrich disease skos:closeMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualMappingCuration +NANDO:1200215 Ullrich disease skos:closeMatch MONDO:0009681 Ullrich congenital muscular dystrophy 1 semapv:ManualMappingCuration +NANDO:1200216 Distal myopathy skos:closeMatch MONDO:0018949 distal myopathy semapv:ManualMappingCuration +NANDO:1200217 Miyoshi myopathy skos:closeMatch MONDO:0009685 Miyoshi myopathy semapv:ManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:closeMatch MONDO:0007827 inclusion body myositis semapv:ManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:closeMatch MONDO:0011603 GNE myopathy semapv:ManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:closeMatch MONDO:0014945 myopathy, distal, with rimmed vacuoles semapv:ManualMappingCuration +NANDO:1200219 Oculopharyngodistal myopathy skos:closeMatch MONDO:0020793 oculopharyngodistal myopathy 1 semapv:ManualMappingCuration +NANDO:1200219 Oculopharyngodistal myopathy skos:closeMatch MONDO:0025193 oculopharyngodistal myopathy semapv:ManualMappingCuration +NANDO:1200220 Bethlem Myopathy skos:closeMatch MONDO:0008029 Bethlem myopathy semapv:ManualMappingCuration +NANDO:1200222 Danon disease skos:closeMatch MONDO:0010281 Danon disease semapv:ManualMappingCuration +NANDO:1200223 X-linked Myopathy with excessive autophagy skos:closeMatch MONDO:0010684 X-linked myopathy with excessive autophagy semapv:ManualMappingCuration +NANDO:1200224 Schwartz-Jampel syndrome skos:closeMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration +NANDO:1200225 Neurofibromatosis skos:closeMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:1200225 Neurofibromatosis skos:closeMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:1200226 Neurofibromatosis type 1 skos:closeMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:1200226 Neurofibromatosis type 1 skos:closeMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:1200227 Neurofibromatosis type 2 skos:closeMatch MONDO:0007039 neurofibromatosis type 2 semapv:ManualMappingCuration +NANDO:1200227 Neurofibromatosis type 2 skos:closeMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:1200228 Pemphigus skos:closeMatch MONDO:0006594 pemphigus semapv:ManualMappingCuration +NANDO:1200229 Pemphigus vulgaris skos:closeMatch MONDO:0008219 pemphigus vulgaris semapv:ManualMappingCuration +NANDO:1200230 Pemphigus foliaceus skos:closeMatch MONDO:0019324 pemphigus foliaceus semapv:ManualMappingCuration +NANDO:1200231 Paraneoplastic pemphigus skos:closeMatch MONDO:0018974 paraneoplastic pemphigus semapv:ManualMappingCuration +NANDO:1200232 Pemphigus vegetans skos:closeMatch MONDO:0019322 pemphigus vegetans semapv:ManualMappingCuration +NANDO:1200233 Pemphigus erythematosus skos:closeMatch MONDO:0019323 pemphigus erythematosus semapv:ManualMappingCuration +NANDO:1200234 Epidermolysis bullosa skos:closeMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200235 Epidermolysis bullosa simplex skos:closeMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration +NANDO:1200236 Junctional epidermolysis bullosa skos:closeMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200238 Recessive dystrophic epidermolysis bullosa skos:closeMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200239 Kindler syndrome skos:closeMatch MONDO:0008260 Kindler syndrome semapv:ManualMappingCuration +NANDO:1200240 Pustular psoriasis skos:closeMatch MONDO:0016597 obsolete generalized pustular psoriasis semapv:ManualMappingCuration +NANDO:1200240 Pustular psoriasis skos:closeMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration +NANDO:1200243 Impetigo herpetiformis skos:closeMatch MONDO:0004591 impetigo herpetiformis semapv:ManualMappingCuration +NANDO:1200244 Acrodermatitis continua of Hallopeau skos:closeMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualMappingCuration +NANDO:1200245 Stevens-Johnson syndrome skos:closeMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration +NANDO:1200246 Toxic epidermal necrolysis skos:closeMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualMappingCuration +NANDO:1200251 Takayasu arteritis skos:closeMatch MONDO:0006656 aortitis semapv:ManualMappingCuration +NANDO:1200251 Takayasu arteritis skos:closeMatch MONDO:0017991 Takayasu arteritis semapv:ManualMappingCuration +NANDO:1200258 Giant cell arteritis skos:closeMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration +NANDO:1200259 Cranial giant cell arteritis skos:closeMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration +NANDO:1200260 Large-vessel giant cell arteritis skos:closeMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration +NANDO:1200261 Polyarteritis nodosa skos:closeMatch MONDO:0019170 polyarteritis nodosa semapv:ManualMappingCuration +NANDO:1200262 Microscopic polyangiitis skos:closeMatch MONDO:0019124 microscopic polyangiitis semapv:ManualMappingCuration +NANDO:1200263 Granulomatosis with polyangiitis skos:closeMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:1200264 Eosinophilic granulomatosis with polyangiitis skos:closeMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:1200265 Rheumatoid vasculitis skos:closeMatch MONDO:0043267 rheumatoid vasculitis semapv:ManualMappingCuration +NANDO:1200266 Buerger's disease skos:closeMatch MONDO:0008889 thromboangiitis obliterans semapv:ManualMappingCuration +NANDO:1200267 Primary antiphospholipid antibody syndrome skos:closeMatch MONDO:0005204 primary antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:1200270 Catastrophic antiphospholipid syndrome skos:closeMatch MONDO:0018737 catastrophic antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:1200271 Antiphospholipid antibody-related disease skos:closeMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:1200272 Systemic lupus erythematosus skos:closeMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualMappingCuration +NANDO:1200274 Dermatomyositis skos:closeMatch MONDO:0016367 dermatomyositis semapv:ManualMappingCuration +NANDO:1200275 Amyopathic dermatomyositis skos:closeMatch MONDO:0043317 amyopathic dermatomyositis semapv:ManualMappingCuration +NANDO:1200276 Polymyositis skos:closeMatch MONDO:0019127 polymyositis semapv:ManualMappingCuration +NANDO:1200277 Systemic sclerosis skos:closeMatch MONDO:0005100 systemic sclerosis semapv:ManualMappingCuration +NANDO:1200278 Mixed connective tissue disease skos:closeMatch MONDO:0005854 mixed connective tissue disease semapv:ManualMappingCuration +NANDO:1200279 Sjogren's syndrome skos:closeMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration +NANDO:1200280 Primary Sjogren's syndrome skos:closeMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration +NANDO:1200282 Adult Still's disease skos:closeMatch MONDO:0019355 adult-onset Still disease semapv:ManualMappingCuration +NANDO:1200283 Relapsing polychondritis skos:closeMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration +NANDO:1200284 Behcet's disease skos:closeMatch MONDO:0007191 Behcet disease semapv:ManualMappingCuration +NANDO:1200286 Hypertrophic cardiomyopathy skos:closeMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:1200288 Hypertrophic obstructive cardiomyopathy skos:closeMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:1200292 Restrictive cardiomyopathy skos:closeMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:1200293 Idiopathic restrictive cardiomyopathy skos:closeMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:1200294 Secondary restrictive cardiomyopathy skos:closeMatch MONDO:0016345 non-familial restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:1200295 Aplastic anemia skos:closeMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:1200296 Idiopathic aplastic anemia skos:closeMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualMappingCuration +NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome skos:closeMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:1200301 Borderline between aplastic anemia and MDS skos:closeMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:1200302 Congenital aplastic anemia skos:closeMatch MONDO:0001713 inherited aplastic anemia semapv:ManualMappingCuration +NANDO:1200303 Fanconi anemia skos:closeMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration +NANDO:1200304 Dyskeratosis congenita skos:closeMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration +NANDO:1200305 Autoimmune hemolytic anemia skos:closeMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualMappingCuration +NANDO:1200306 Warm antibody hemolytic anemia skos:closeMatch MONDO:0019532 autoimmune hemolytic anemia, warm type semapv:ManualMappingCuration +NANDO:1200307 Cold agglutinin disease skos:closeMatch MONDO:0018922 cold agglutinin disease semapv:ManualMappingCuration +NANDO:1200308 Paroxysmal cold hemoglobinuria skos:closeMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualMappingCuration +NANDO:1200309 Mixed-type autoimmune hemolytic anemia skos:closeMatch MONDO:0019534 mixed-type autoimmune hemolytic anemia semapv:ManualMappingCuration +NANDO:1200310 Evans syndrome skos:closeMatch MONDO:0016030 Evans syndrome semapv:ManualMappingCuration +NANDO:1200311 Paroxysmal nocturnal hemoglobinuria skos:closeMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:1200315 Idiopathic thrombocytopenic purpura skos:closeMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200316 Thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200317 Congenital thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0010122 congenital thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200319 Secondary thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200320 Primary immunodeficiency syndrome skos:closeMatch MONDO:0003778 inborn error of immunity semapv:ManualMappingCuration +NANDO:1200321 X-linked severe combined immunodeficiency skos:closeMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualMappingCuration +NANDO:1200322 Reticular dysgenesis skos:closeMatch MONDO:0009973 reticular dysgenesis semapv:ManualMappingCuration +NANDO:1200323 Adenosine deaminase deficiency skos:closeMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualMappingCuration +NANDO:1200324 Omenn syndrome skos:closeMatch MONDO:0011338 Omenn syndrome semapv:ManualMappingCuration +NANDO:1200325 Purine nucleoside phosphorylase deficiency skos:closeMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualMappingCuration +NANDO:1200326 CD8 deficiency skos:closeMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualMappingCuration +NANDO:1200327 Zap-70 deficiency skos:closeMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualMappingCuration +NANDO:1200328 MHC class I deficiency skos:closeMatch MONDO:0011476 MHC class I deficiency semapv:ManualMappingCuration +NANDO:1200329 MHC class II deficiency skos:closeMatch MONDO:0008855 MHC class II deficiency semapv:ManualMappingCuration +NANDO:1200330 Wiskott-Aldrich syndrome skos:closeMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualMappingCuration +NANDO:1200331 Ataxia telangiectasia skos:closeMatch MONDO:0008840 ataxia telangiectasia semapv:ManualMappingCuration +NANDO:1200332 Nijmegen breakage syndrome skos:closeMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualMappingCuration +NANDO:1200333 Bloom syndrome skos:closeMatch MONDO:0008876 Bloom syndrome semapv:ManualMappingCuration +NANDO:1200334 ICF syndrome skos:closeMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualMappingCuration +NANDO:1200336 RIDDLE syndrome skos:closeMatch MONDO:0012764 RIDDLE syndrome semapv:ManualMappingCuration +NANDO:1200337 Schimke syndrome skos:closeMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualMappingCuration +NANDO:1200338 Netherton syndrome skos:closeMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:closeMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:closeMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:closeMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration +NANDO:1200340 Hyper-IgE syndrome skos:closeMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualMappingCuration +NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency skos:closeMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualMappingCuration +NANDO:1200342 Dyskeratosis congenita skos:closeMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration +NANDO:1200343 X-linked agammaglobulinemia skos:closeMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualMappingCuration +NANDO:1200344 Common variable immunodeficiency skos:closeMatch MONDO:0015517 common variable immunodeficiency semapv:ManualMappingCuration +NANDO:1200345 Hyper-IgM syndrome skos:closeMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualMappingCuration +NANDO:1200346 IgG subclass deficiency skos:closeMatch MONDO:0045045 selective IgG immunodeficiency semapv:ManualMappingCuration +NANDO:1200347 Selective IgA deficiency skos:closeMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualMappingCuration +NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:closeMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualMappingCuration +NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:closeMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualMappingCuration +NANDO:1200350 Chédiak-Higashi syndrome skos:closeMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration +NANDO:1200351 X-linked lymphoproliferative syndrome skos:closeMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:1200352 Autoimmune lymphoproliferative syndrome skos:closeMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:1200353 Severe congenital neutropenia skos:closeMatch MONDO:0018542 severe congenital neutropenia semapv:ManualMappingCuration +NANDO:1200354 Cyclic neutropenia skos:closeMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualMappingCuration +NANDO:1200355 Leukocyte adhesion deficiency skos:closeMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualMappingCuration +NANDO:1200356 Shwachman-Diamond syndrome skos:closeMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualMappingCuration +NANDO:1200357 Chronic granulomatous disease skos:closeMatch MONDO:0018305 chronic granulomatous disease semapv:ManualMappingCuration +NANDO:1200358 Myeloperoxidase deficiency skos:closeMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualMappingCuration +NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency skos:closeMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualMappingCuration +NANDO:1200361 IRAK4 deficiency skos:closeMatch MONDO:0011888 immunodeficiency 67 semapv:ManualMappingCuration +NANDO:1200362 MyD88 deficiency skos:closeMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualMappingCuration +NANDO:1200363 Chronic mucocutaneous candidiasis skos:closeMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualMappingCuration +NANDO:1200364 Inherited deficiency of complement system skos:closeMatch MONDO:0003832 complement deficiency semapv:ManualMappingCuration +NANDO:1200365 Hereditary angioedema skos:closeMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualMappingCuration +NANDO:1200365 Hereditary angioedema skos:closeMatch MONDO:0019623 hereditary angioedema semapv:ManualMappingCuration +NANDO:1200366 IgA nephropathy skos:closeMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualMappingCuration +NANDO:1200367 Polycystic kidney disease skos:closeMatch MONDO:0020642 polycystic kidney disease semapv:ManualMappingCuration +NANDO:1200368 Autosomal dominant polycystic kidney disease skos:closeMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualMappingCuration +NANDO:1200369 Autosomal recessive polycystic kidney disease skos:closeMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualMappingCuration +NANDO:1200371 Ossification of posterior longitudinal ligament skos:closeMatch MONDO:0011230 ossification of the posterior longitudinal ligament of the spine semapv:ManualMappingCuration +NANDO:1200372 Coexisting cervical and lumbar spinal stenosis skos:closeMatch MONDO:0005965 spinal stenosis semapv:ManualMappingCuration +NANDO:1200373 Idiopathic osteonecrosis of femoral head skos:closeMatch MONDO:0012126 familial avascular necrosis of femoral head semapv:ManualMappingCuration +NANDO:1200375 Central diabetes insipidus skos:closeMatch MONDO:0015790 central diabetes insipidus semapv:ManualMappingCuration +NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone skos:closeMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration +NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome skos:closeMatch MONDO:0019611 TSH-secreting pituitary adenoma semapv:ManualMappingCuration +NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome skos:closeMatch MONDO:0010911 prolactin-producing pituitary gland adenoma semapv:ManualMappingCuration +NANDO:1200379 Cushing disease skos:closeMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualMappingCuration +NANDO:1200381 Central precocious puberty skos:closeMatch MONDO:0019165 central precocious puberty semapv:ManualMappingCuration +NANDO:1200382 Idiopathic hypogonadotropic hypogonadism skos:closeMatch MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia semapv:ManualMappingCuration +NANDO:1200383 Congenital hypogonadotropic hypogonadism skos:closeMatch MONDO:0015770 congenital hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:1200385 Growth hormone secreting pituitary adenoma skos:closeMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualMappingCuration +NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone skos:closeMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualMappingCuration +NANDO:1200387 Hypopituitarism syndrome skos:closeMatch MONDO:0005152 hypopituitarism semapv:ManualMappingCuration +NANDO:1200388 Hypogonadotropic hypogonadism skos:closeMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:1200390 Thyroid-stimulating hormone deficiency skos:closeMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration +NANDO:1200394 Homozygous familial hypercholesterolemia skos:closeMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualMappingCuration +NANDO:1200395 Resistance to thyroid hormone skos:closeMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration +NANDO:1200395 Resistance to thyroid hormone skos:closeMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration +NANDO:1200396 Congenital adrenal enzyme deficiency skos:closeMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:1200397 Congenital lipoid adrenal hyperplasia skos:closeMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency skos:closeMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:1200399 21-Hydroxylase deficiency skos:closeMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:1200400 11-β-Hydroxylase deficiency skos:closeMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:1200401 17-α-Hydroxylase deficiency skos:closeMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:1200402 P450 oxidoreductase deficiency skos:closeMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualMappingCuration +NANDO:1200403 Congenital adrenal hypoplasia skos:closeMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualMappingCuration +NANDO:1200403 Congenital adrenal hypoplasia skos:closeMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:1200404 DAX1 abnormality skos:closeMatch MONDO:0010226 46,XY sex reversal 2 semapv:ManualMappingCuration +NANDO:1200405 SF-1 abnormality skos:closeMatch MONDO:0013066 46,XY sex reversal 3 semapv:ManualMappingCuration +NANDO:1200406 IMAge syndrome skos:closeMatch MONDO:0013873 IMAGe syndrome semapv:ManualMappingCuration +NANDO:1200408 MC2R deficiency skos:closeMatch MONDO:0024536 glucocorticoid deficiency 1 semapv:ManualMappingCuration +NANDO:1200409 MRAP deficiency skos:closeMatch MONDO:0011826 glucocorticoid deficiency 2 semapv:ManualMappingCuration +NANDO:1200410 Allgrove syndrome skos:closeMatch MONDO:0009279 triple-A syndrome semapv:ManualMappingCuration +NANDO:1200411 Addison's disease skos:closeMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:1200411 Addison's disease skos:closeMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration +NANDO:1200412 Autoimmune Addison's disease skos:closeMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:1200415 Sarcoidosis skos:closeMatch MONDO:0019338 sarcoidosis semapv:ManualMappingCuration +NANDO:1200416 Idiopathic interstitial pneumonia skos:closeMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200417 Idiopathic pulmonary fibrosis skos:closeMatch MONDO:0008345 obsolete idiopathic pulmonary fibrosis semapv:ManualMappingCuration +NANDO:1200419 Non-specific interstitial pneumonia skos:closeMatch MONDO:0019622 non-specific interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200420 Acute interstitial pneumonia skos:closeMatch MONDO:0019203 acute interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200421 Cryptogenic organizing pneumonia skos:closeMatch MONDO:0015264 cryptogenic organizing pneumonia semapv:ManualMappingCuration +NANDO:1200422 Desquamative interstitial pneumonia skos:closeMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease skos:closeMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200424 Lymphoid interstitial pneumonia skos:closeMatch MONDO:0009537 lymphoid interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200425 Pulmonary arterial hypertension skos:closeMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis skos:closeMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualMappingCuration +NANDO:1200427 Pulmonary veno-occlusive disease skos:closeMatch MONDO:0009937 pulmonary venoocclusive disease semapv:ManualMappingCuration +NANDO:1200429 Chronic thromboembolic pulmonary hypertension skos:closeMatch MONDO:0013024 chronic thromboembolic pulmonary hypertension semapv:ManualMappingCuration +NANDO:1200430 Lymphangioleiomyomatosis skos:closeMatch MONDO:0011705 lymphangioleiomyomatosis semapv:ManualMappingCuration +NANDO:1200431 Retinitis pigmentosa skos:closeMatch MONDO:0019200 retinitis pigmentosa semapv:ManualMappingCuration +NANDO:1200437 Budd-Chiari syndrome skos:closeMatch MONDO:0010947 Budd-Chiari syndrome semapv:ManualMappingCuration +NANDO:1200438 Idiopathic portal hypertension skos:closeMatch MONDO:0021969 Banti syndrome semapv:ManualMappingCuration +NANDO:1200439 Primary biliary cholangitis skos:closeMatch MONDO:0005388 primary biliary cholangitis semapv:ManualMappingCuration +NANDO:1200440 Primary sclerosing cholangitis skos:closeMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualMappingCuration +NANDO:1200440 Primary sclerosing cholangitis skos:closeMatch MONDO:0018646 sclerosing cholangitis semapv:ManualMappingCuration +NANDO:1200441 Autoimmune hepatitis skos:closeMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration +NANDO:1200442 Typical autoimmune hepatitis skos:closeMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration +NANDO:1200444 Crohn's disease skos:closeMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration +NANDO:1200445 small bowel Crohn disease skos:closeMatch MONDO:0005539 small bowel Crohn disease semapv:ManualMappingCuration +NANDO:1200446 Colonic Crohn's disease skos:closeMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration +NANDO:1200446 Colonic Crohn's disease skos:closeMatch MONDO:0005532 Crohn's colitis semapv:ManualMappingCuration +NANDO:1200447 Crohn ileocolitis skos:closeMatch MONDO:0005534 ileocolitis semapv:ManualMappingCuration +NANDO:1200449 Ulcerative colitis skos:closeMatch MONDO:0005101 ulcerative colitis semapv:ManualMappingCuration +NANDO:1200450 Pan-ulcerative colitis skos:closeMatch MONDO:0005536 pancolitis semapv:ManualMappingCuration +NANDO:1200451 Left-sided colitis skos:closeMatch MONDO:0005533 distal colitis semapv:ManualMappingCuration +NANDO:1200454 Eosinophilic gastrointestinal disorders skos:closeMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualMappingCuration +NANDO:1200456 Eosinophilic esophagitis skos:closeMatch MONDO:0005361 eosinophilic esophagitis semapv:ManualMappingCuration +NANDO:1200457 Eosinophilic gastroenteritis skos:closeMatch MONDO:0016129 eosinophilic gastroenteritis semapv:ManualMappingCuration +NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction skos:closeMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualMappingCuration +NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:closeMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualMappingCuration +NANDO:1200460 Congenital isolated hypoganglionosis skos:closeMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualMappingCuration +NANDO:1200461 Rubinstein-Taybi syndrome skos:closeMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualMappingCuration +NANDO:1200462 CFC Syndrome skos:closeMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualMappingCuration +NANDO:1200463 Costello syndrome skos:closeMatch MONDO:0009026 Costello syndrome semapv:ManualMappingCuration +NANDO:1200464 CHARGE syndrome skos:closeMatch MONDO:0008965 CHARGE syndrome semapv:ManualMappingCuration +NANDO:1200465 Cryopyrin-associated periodic syndrome skos:closeMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualMappingCuration +NANDO:1200466 Familial cold autoinflammatorysyndrome skos:closeMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:1200467 Muckle-Wells syndrome skos:closeMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualMappingCuration +NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome skos:closeMatch MONDO:0011776 CINCA syndrome semapv:ManualMappingCuration +NANDO:1200469 Juvenile idiopathic arthritis skos:closeMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:1200470 Systemic juvenile idiopathic arthritis skos:closeMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:1200471 Articular-type juvenile idiopathic arthritis skos:closeMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:1200472 TNF receptor-associated periodic fever syndrome skos:closeMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualMappingCuration +NANDO:1200473 Atypical hemolytic uremic syndrome skos:closeMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:1200474 Congenital atypical hemolytic uremic syndrome skos:closeMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:1200476 Blau syndrome skos:closeMatch MONDO:0008523 Blau syndrome semapv:ManualMappingCuration +NANDO:1200477 Congenital myopathy skos:closeMatch MONDO:0019952 congenital myopathy semapv:ManualMappingCuration +NANDO:1200478 Nemaline myopathy skos:closeMatch MONDO:0018958 nemaline myopathy semapv:ManualMappingCuration +NANDO:1200479 Central core disease skos:closeMatch MONDO:0007294 central core myopathy semapv:ManualMappingCuration +NANDO:1200481 Myotubular myopathy skos:closeMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration +NANDO:1200482 Centronuclear myopathy skos:closeMatch MONDO:0002921 congenital structural myopathy semapv:ManualMappingCuration +NANDO:1200482 Centronuclear myopathy skos:closeMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration +NANDO:1200483 Congenital fiber-type disproportion myopathy skos:closeMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualMappingCuration +NANDO:1200485 Marinesco-Sjogren syndrome skos:closeMatch MONDO:0009567 Marinesco-Sjogren syndrome semapv:ManualMappingCuration +NANDO:1200486 Muscular dystrophy skos:closeMatch MONDO:0020121 muscular dystrophy semapv:ManualMappingCuration +NANDO:1200487 Dystrophinopathies skos:closeMatch MONDO:0016147 qualitative or quantitative defects of dystrophin semapv:ManualMappingCuration +NANDO:1200488 Duchenne muscular dystrophy skos:closeMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualMappingCuration +NANDO:1200489 Becker muscular dystrophy skos:closeMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualMappingCuration +NANDO:1200490 Limb-girdle muscular dystrophy skos:closeMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualMappingCuration +NANDO:1200491 Facioscapulohumeral muscular dystrophy skos:closeMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualMappingCuration +NANDO:1200492 Emery-Dreifuss muscular dystrophy skos:closeMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualMappingCuration +NANDO:1200493 Oculopharyngeal muscular dystrophy skos:closeMatch MONDO:0008116 oculopharyngeal muscular dystrophy semapv:ManualMappingCuration +NANDO:1200494 Fukuyama type congenital muscular dystrophy skos:closeMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualMappingCuration +NANDO:1200495 Myotonic dystrophy skos:closeMatch MONDO:0016107 myotonic dystrophy semapv:ManualMappingCuration +NANDO:1200496 Non-dystrophic myotonia skos:closeMatch MONDO:0016110 obsolete non-dystrophic myopathy semapv:ManualMappingCuration +NANDO:1200497 Myotonia congenita skos:closeMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualMappingCuration +NANDO:1200498 Thomsen disease skos:closeMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualMappingCuration +NANDO:1200499 Becker disease skos:closeMatch MONDO:0009715 myotonia congenita, autosomal recessive semapv:ManualMappingCuration +NANDO:1200500 Sodium channel myotonia skos:closeMatch MONDO:0018959 potassium-aggravated myotonia semapv:ManualMappingCuration +NANDO:1200501 Paramyotonia congenita skos:closeMatch MONDO:0008195 paramyotonia congenita of Von Eulenburg semapv:ManualMappingCuration +NANDO:1200502 Hereditary periodic paralysis skos:closeMatch MONDO:0000995 familial periodic paralysis semapv:ManualMappingCuration +NANDO:1200503 Hereditary hypokalemic periodic paralysis skos:closeMatch MONDO:0008223 hypokalemic periodic paralysis semapv:ManualMappingCuration +NANDO:1200504 Hereditary hyperkalemic periodic paralysis skos:closeMatch MONDO:0008224 hyperkalemic periodic paralysis semapv:ManualMappingCuration +NANDO:1200506 Syringomyelia skos:closeMatch MONDO:0017987 syringomyelia semapv:ManualMappingCuration +NANDO:1200507 Symptomatic syringomyelia skos:closeMatch MONDO:0017987 syringomyelia semapv:ManualMappingCuration +NANDO:1200509 Myelomeningocele skos:closeMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration +NANDO:1200509 Myelomeningocele skos:closeMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration +NANDO:1200510 Isaacs syndrome skos:closeMatch MONDO:0019399 Isaac syndrome semapv:ManualMappingCuration +NANDO:1200511 Hereditary dystonia skos:closeMatch MONDO:0044807 inherited dystonia semapv:ManualMappingCuration +NANDO:1200512 Dystonia 1 skos:closeMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration +NANDO:1200512 Dystonia 1 skos:closeMatch MONDO:0044808 obsolete early onset primary dystonia semapv:ManualMappingCuration +NANDO:1200513 Dystonia 2 skos:closeMatch MONDO:0009141 torsion dystonia 2 semapv:ManualMappingCuration +NANDO:1200514 Dystonia 3 skos:closeMatch MONDO:0010747 X-linked dystonia-parkinsonism semapv:ManualMappingCuration +NANDO:1200515 Dystonia 4 skos:closeMatch MONDO:0007493 torsion dystonia 4 semapv:ManualMappingCuration +NANDO:1200516 Dystonia 5 skos:closeMatch MONDO:0007495 dystonia 5 semapv:ManualMappingCuration +NANDO:1200516 Dystonia 5 skos:closeMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualMappingCuration +NANDO:1200517 Dystonia 6 skos:closeMatch MONDO:0011264 torsion dystonia 6 semapv:ManualMappingCuration +NANDO:1200518 Dystonia 7 skos:closeMatch MONDO:0011200 torsion dystonia 7 semapv:ManualMappingCuration +NANDO:1200519 Dystonia 8 skos:closeMatch MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 semapv:ManualMappingCuration +NANDO:1200520 Dystonia 9 skos:closeMatch MONDO:0010983 dystonia 9 semapv:ManualMappingCuration +NANDO:1200521 Dystonia 10 skos:closeMatch MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 semapv:ManualMappingCuration +NANDO:1200522 Dystonia 11 skos:closeMatch MONDO:0000903 myoclonus-dystonia syndrome semapv:ManualMappingCuration +NANDO:1200523 Dystonia 12 skos:closeMatch MONDO:0007496 dystonia 12 semapv:ManualMappingCuration +NANDO:1200524 Rapid-onset dystonia-parkinsonism skos:closeMatch MONDO:0007496 dystonia 12 semapv:ManualMappingCuration +NANDO:1200525 Alternating hemiplegia of childhood skos:closeMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss skos:closeMatch MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:ManualMappingCuration +NANDO:1200527 Dystonia 13 skos:closeMatch MONDO:0011886 torsion dystonia 13 semapv:ManualMappingCuration +NANDO:1200528 Dystonia 15 skos:closeMatch MONDO:0011844 myoclonic dystonia 15 semapv:ManualMappingCuration +NANDO:1200529 Dystonia 16 skos:closeMatch MONDO:0012789 dystonia 16 semapv:ManualMappingCuration +NANDO:1200530 Dystonia 17 skos:closeMatch MONDO:0012895 torsion dystonia 17 semapv:ManualMappingCuration +NANDO:1200531 Dystonia 18 skos:closeMatch MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 semapv:ManualMappingCuration +NANDO:1200532 Dystonia 19 skos:closeMatch MONDO:0012603 episodic kinesigenic dyskinesia 2 semapv:ManualMappingCuration +NANDO:1200533 Dystonia 20 skos:closeMatch MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 semapv:ManualMappingCuration +NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 skos:closeMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration skos:closeMatch MONDO:0016304 classic pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration skos:closeMatch MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A skos:closeMatch MONDO:0024457 neurodegeneration with brain iron accumulation 2A semapv:ManualMappingCuration +NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B skos:closeMatch MONDO:0012444 neurodegeneration with brain iron accumulation 2B semapv:ManualMappingCuration +NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 skos:closeMatch MONDO:0011638 neuroferritinopathy semapv:ManualMappingCuration +NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:closeMatch MONDO:0011426 aceruloplasminemia semapv:ManualMappingCuration +NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:closeMatch MONDO:0013674 neurodegeneration with brain iron accumulation 4 semapv:ManualMappingCuration +NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:closeMatch MONDO:0012866 hereditary spastic paraplegia 35 semapv:ManualMappingCuration +NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:closeMatch MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200542 Neuroferritinopathy skos:closeMatch MONDO:0011638 neuroferritinopathy semapv:ManualMappingCuration +NANDO:1200543 Superficial siderosis skos:closeMatch MONDO:0016594 superficial siderosis semapv:ManualMappingCuration +NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy skos:closeMatch MONDO:0010829 CARASIL syndrome semapv:ManualMappingCuration +NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy skos:closeMatch MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy semapv:ManualMappingCuration +NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid skos:closeMatch MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:ManualMappingCuration +NANDO:1200547 Perry syndrome skos:closeMatch MONDO:0008201 Perry syndrome semapv:ManualMappingCuration +NANDO:1200548 Frontotemporal lobar degeneration skos:closeMatch MONDO:0017276 frontotemporal dementia semapv:ManualMappingCuration +NANDO:1200549 Behavioral variant frontotemporal dementia skos:closeMatch MONDO:0017160 behavioral variant of frontotemporal dementia semapv:ManualMappingCuration +NANDO:1200550 Semantic dementia skos:closeMatch MONDO:0010857 semantic dementia semapv:ManualMappingCuration +NANDO:1200551 Bickerstaff's brainstem encephalitis skos:closeMatch MONDO:0019208 Bickerstaff brainstem encephalitis semapv:ManualMappingCuration +NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration +NANDO:1200553 Congenital insensitivity to pain with anhidrosis skos:closeMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualMappingCuration +NANDO:1200554 Alexander disease skos:closeMatch MONDO:0008752 Alexander disease semapv:ManualMappingCuration +NANDO:1200555 Alexander disease type I skos:closeMatch MONDO:0018209 Alexander disease type I semapv:ManualMappingCuration +NANDO:1200556 Alexander disease type II skos:closeMatch MONDO:0018210 Alexander disease type II semapv:ManualMappingCuration +NANDO:1200558 Congenital suprabulbar paresis skos:closeMatch MONDO:0008503 Worster-Drought syndrome semapv:ManualMappingCuration +NANDO:1200559 Moebius syndrome skos:closeMatch MONDO:0008006 Mobius syndrome semapv:ManualMappingCuration +NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome skos:closeMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration +NANDO:1200561 Septo-optic dysplasia skos:closeMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration +NANDO:1200561 Septo-optic dysplasia skos:closeMatch MONDO:0019029 segmental odontomaxillary dysplasia semapv:ManualMappingCuration +NANDO:1200562 Aicardi syndrome skos:closeMatch MONDO:0010568 Aicardi syndrome semapv:ManualMappingCuration +NANDO:1200563 Hemimegalencephaly skos:closeMatch MONDO:0020492 hemimegalencephaly semapv:ManualMappingCuration +NANDO:1200564 Focal cortical dysplasia skos:closeMatch MONDO:0019009 isolated focal cortical dysplasia semapv:ManualMappingCuration +NANDO:1200565 Focal cortical dysplasia type 1a skos:closeMatch MONDO:0017096 isolated focal cortical dysplasia type Ia semapv:ManualMappingCuration +NANDO:1200566 Focal cortical dysplasia type 1b skos:closeMatch MONDO:0017097 isolated focal cortical dysplasia type Ib semapv:ManualMappingCuration +NANDO:1200567 Focal cortical dysplasia type 1c skos:closeMatch MONDO:0017098 isolated focal cortical dysplasia type Ic semapv:ManualMappingCuration +NANDO:1200574 Neuronal migration defects skos:closeMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualMappingCuration +NANDO:1200575 Congenital hypomyelinating leukodystrophy skos:closeMatch MONDO:0019046 leukodystrophy semapv:ManualMappingCuration +NANDO:1200576 Pelizaeus-Merzbacher disease skos:closeMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualMappingCuration +NANDO:1200577 Pelizaeus-Merzbacher like disease skos:closeMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualMappingCuration +NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:closeMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualMappingCuration +NANDO:1200579 18q-syndrome skos:closeMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualMappingCuration +NANDO:1200580 Allan-Herndon-Dudley syndrome skos:closeMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualMappingCuration +NANDO:1200581 Mitochondrial Hsp60 chaperonopathy skos:closeMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualMappingCuration +NANDO:1200582 Salla disease skos:closeMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration +NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:closeMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualMappingCuration +NANDO:1200584 Hypomyelination and congenital cataract skos:closeMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualMappingCuration +NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome skos:closeMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualMappingCuration +NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:closeMatch MONDO:0012198 PCWH syndrome semapv:ManualMappingCuration +NANDO:1200587 Dravet syndrome skos:closeMatch MONDO:0100135 Dravet syndrome semapv:ManualMappingCuration +NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis skos:closeMatch MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis semapv:ManualMappingCuration +NANDO:1200589 Myoclonic absence epilepsy skos:closeMatch MONDO:0019487 epilepsy with myoclonic absences semapv:ManualMappingCuration +NANDO:1200590 Epilepsy with myoclonic atonic seizures skos:closeMatch MONDO:0016025 myoclonic-astatic epilepsy semapv:ManualMappingCuration +NANDO:1200591 Lennox-Gastaut syndrome skos:closeMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualMappingCuration +NANDO:1200592 West syndrome skos:closeMatch MONDO:0018097 West syndrome semapv:ManualMappingCuration +NANDO:1200593 Ohtahara syndrome skos:closeMatch MONDO:0100062 developmental and epileptic encephalopathy semapv:ManualMappingCuration +NANDO:1200594 Early myoclonic encephalopathy skos:closeMatch MONDO:0016022 early myoclonic encephalopathy semapv:ManualMappingCuration +NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:closeMatch MONDO:0017385 malignant migrating partial seizures of infancy semapv:ManualMappingCuration +NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:closeMatch MONDO:0100025 epilepsy of infancy with migrating focal seizures semapv:ManualMappingCuration +NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome skos:closeMatch MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome semapv:ManualMappingCuration +NANDO:1200597 Ring chromosome 20 syndrome skos:closeMatch MONDO:0015436 ring chromosome 20 semapv:ManualMappingCuration +NANDO:1200598 Rasmussen's encephalitis skos:closeMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration +NANDO:1200599 PCDH19-related syndrome skos:closeMatch MONDO:0010246 developmental and epileptic encephalopathy, 9 semapv:ManualMappingCuration +NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures skos:closeMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration +NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:closeMatch MONDO:0019123 continuous spikes and waves during sleep semapv:ManualMappingCuration +NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:closeMatch MONDO:0022858 continuous spike-wave during slow sleep syndrome semapv:ManualMappingCuration +NANDO:1200602 Landau-Kleffner syndrome skos:closeMatch MONDO:0009509 Landau-Kleffner syndrome semapv:ManualMappingCuration +NANDO:1200603 Rett syndrome skos:closeMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:1200604 Typical Rett syndrome skos:closeMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:1200605 Atypical Rett syndrome skos:closeMatch MONDO:0017746 atypical Rett syndrome semapv:ManualMappingCuration +NANDO:1200606 Sturge-Weber syndrome skos:closeMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualMappingCuration +NANDO:1200607 Tuberous sclerosis complex skos:closeMatch MONDO:0001734 tuberous sclerosis semapv:ManualMappingCuration +NANDO:1200607 Tuberous sclerosis complex skos:closeMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualMappingCuration +NANDO:1200608 Xeroderma pigmentosum skos:closeMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration +NANDO:1200609 Congenital ichthyosis skos:closeMatch MONDO:0015947 inherited ichthyosis semapv:ManualMappingCuration +NANDO:1200610 Keratinopathic ichthyosis skos:closeMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualMappingCuration +NANDO:1200611 Autosomal dominant epidermolytic ichthyosis skos:closeMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:1200612 Autosomal recessive epidermolytic ichthyosis skos:closeMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:1200613 Superficial epidermolytic ichthyosis skos:closeMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:1200614 Harlequin ichthyosis skos:closeMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualMappingCuration +NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis skos:closeMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualMappingCuration +NANDO:1200616 Congenital ichthyosiform erythroderma skos:closeMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualMappingCuration +NANDO:1200617 Lamellar ichthyosis skos:closeMatch MONDO:0017778 lamellar ichthyosis semapv:ManualMappingCuration +NANDO:1200617 Lamellar ichthyosis skos:closeMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualMappingCuration +NANDO:1200618 Ichthyosis syndrome skos:closeMatch MONDO:0019269 ichthyosis semapv:ManualMappingCuration +NANDO:1200619 Netherton syndrome skos:closeMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration +NANDO:1200620 Sjögren-Larsson syndrome skos:closeMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualMappingCuration +NANDO:1200621 Keratitis-ichthyosis-deafness syndrome skos:closeMatch MONDO:0018781 KID syndrome semapv:ManualMappingCuration +NANDO:1200622 Dorfman-Chanarin syndrome skos:closeMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration +NANDO:1200622 Dorfman-Chanarin syndrome skos:closeMatch MONDO:0015611 neutral lipid storage disease semapv:ManualMappingCuration +NANDO:1200623 Neutral lipid storage disease with ichthyosis skos:closeMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration +NANDO:1200624 Multiple sulfatase deficiency skos:closeMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration +NANDO:1200625 Recessive X-linked ichtyosis skos:closeMatch MONDO:0010622 recessive X-linked ichthyosis semapv:ManualMappingCuration +NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature skos:closeMatch MONDO:0002470 photosensitive trichothiodystrophy semapv:ManualMappingCuration +NANDO:1200627 Trichothiodystrophy skos:closeMatch MONDO:0018053 trichothiodystrophy semapv:ManualMappingCuration +NANDO:1200628 Ichthyosis follicularis skos:closeMatch MONDO:0043094 ichthyosis, follicular semapv:ManualMappingCuration +NANDO:1200629 CHILD syndrome skos:closeMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration +NANDO:1200630 Conradi Hünermann Happle syndrome skos:closeMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualMappingCuration +NANDO:1200631 Benign familial pemphigus skos:closeMatch MONDO:0008218 Hailey-Hailey disease semapv:ManualMappingCuration +NANDO:1200633 Bullous pemphigoid skos:closeMatch MONDO:0019082 bullous pemphigoid semapv:ManualMappingCuration +NANDO:1200634 Mucous membrane pemphigoid skos:closeMatch MONDO:0018746 mucous membrane pemphigoid semapv:ManualMappingCuration +NANDO:1200635 Epidermolysis bullosa acquisita skos:closeMatch MONDO:0018747 acquired epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200637 Oculocutaneous albinism skos:closeMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration +NANDO:1200638 Hermansky-Pudlak syndrome skos:closeMatch MONDO:0019312 Hermansky-Pudlak syndrome semapv:ManualMappingCuration +NANDO:1200639 Chédiak-Higashi syndrome skos:closeMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration +NANDO:1200640 Griscelli syndrome skos:closeMatch MONDO:0018306 Griscelli syndrome semapv:ManualMappingCuration +NANDO:1200641 Non-syndromic oculocutaneous albinism skos:closeMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration +NANDO:1200642 Pachydermoperiostosis skos:closeMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration +NANDO:1200642 Pachydermoperiostosis skos:closeMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration +NANDO:1200643 Pseudoxanthoma elasticum skos:closeMatch MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) semapv:ManualMappingCuration +NANDO:1200644 Marfan syndrome skos:closeMatch MONDO:0007947 Marfan syndrome semapv:ManualMappingCuration +NANDO:1200645 Ehlers-Danlos Syndrome skos:closeMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:1200646 Ehlers-Danlos syndrome, classical type skos:closeMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualMappingCuration +NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualMappingCuration +NANDO:1200648 Ehlers-Danlos syndrome, vascular type skos:closeMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualMappingCuration +NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:closeMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualMappingCuration +NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:closeMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualMappingCuration +NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualMappingCuration +NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:closeMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualMappingCuration +NANDO:1200653 Menkes disease skos:closeMatch MONDO:0010651 Menkes disease semapv:ManualMappingCuration +NANDO:1200654 Occipital horn syndrome skos:closeMatch MONDO:0010572 occipital horn syndrome semapv:ManualMappingCuration +NANDO:1200655 Wilson disease skos:closeMatch MONDO:0010200 Wilson disease semapv:ManualMappingCuration +NANDO:1200656 Hypophosphatasia skos:closeMatch MONDO:0018570 hypophosphatasia semapv:ManualMappingCuration +NANDO:1200657 VATER syndrome skos:closeMatch MONDO:0008642 VACTERL/vater association semapv:ManualMappingCuration +NANDO:1200658 Nasu-Hakola disease skos:closeMatch MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly semapv:ManualMappingCuration +NANDO:1200659 Weaver syndrome skos:closeMatch MONDO:0010193 Weaver syndrome semapv:ManualMappingCuration +NANDO:1200660 Coffin-Lowry syndrome skos:closeMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualMappingCuration +NANDO:1200661 Joubert syndrome and related disorders skos:closeMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration +NANDO:1200662 Arima syndrome skos:closeMatch MONDO:0009480 Joubert syndrome with oculorenal defect semapv:ManualMappingCuration +NANDO:1200663 Mowat-Wilson syndrome skos:closeMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualMappingCuration +NANDO:1200664 Williams syndrome skos:closeMatch MONDO:0008678 Williams syndrome semapv:ManualMappingCuration +NANDO:1200665 ATR-X syndrome skos:closeMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration +NANDO:1200666 Crouzon's syndrome skos:closeMatch MONDO:0007405 Crouzon syndrome semapv:ManualMappingCuration +NANDO:1200667 Apert syndrome skos:closeMatch MONDO:0007041 Apert syndrome semapv:ManualMappingCuration +NANDO:1200668 Pfeiffer syndrome skos:closeMatch MONDO:0005810 infectious mononucleosis semapv:ManualMappingCuration +NANDO:1200668 Pfeiffer syndrome skos:closeMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualMappingCuration +NANDO:1200669 Antley-Bixler syndrome skos:closeMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualMappingCuration +NANDO:1200670 Coffin-Siris syndrome skos:closeMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualMappingCuration +NANDO:1200671 Rothmund-Thomson syndrome skos:closeMatch MONDO:0010002 Rothmund-Thomson syndrome semapv:ManualMappingCuration +NANDO:1200672 Kabuki syndrome skos:closeMatch MONDO:0016512 Kabuki syndrome semapv:ManualMappingCuration +NANDO:1200675 Branchio-oto-renal syndrome skos:closeMatch MONDO:0007029 branchio-oto-renal syndrome semapv:ManualMappingCuration +NANDO:1200675 Branchio-oto-renal syndrome skos:closeMatch MONDO:0018878 branchiootic syndrome semapv:ManualMappingCuration +NANDO:1200676 Werner syndrome skos:closeMatch MONDO:0010196 Werner syndrome semapv:ManualMappingCuration +NANDO:1200677 Cockayne syndrome skos:closeMatch MONDO:0016006 Cockayne syndrome semapv:ManualMappingCuration +NANDO:1200678 Prader-Willi syndrome skos:closeMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualMappingCuration +NANDO:1200679 Sotos syndrome skos:closeMatch MONDO:0019349 Sotos syndrome semapv:ManualMappingCuration +NANDO:1200680 Noonan syndrome skos:closeMatch MONDO:0018997 Noonan syndrome semapv:ManualMappingCuration +NANDO:1200681 Young-Simpson syndrome skos:closeMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualMappingCuration +NANDO:1200682 1p36 deletion syndrome skos:closeMatch MONDO:0011929 chromosome 1p36 deletion syndrome semapv:ManualMappingCuration +NANDO:1200683 4p deletion syndrome skos:closeMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualMappingCuration +NANDO:1200684 5p deletion syndrome skos:closeMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualMappingCuration +NANDO:1200685 Paternal uniparental disomy of chromosome 14 skos:closeMatch MONDO:0011975 paternal uniparental disomy of chromosome 14 semapv:ManualMappingCuration +NANDO:1200686 Angelman syndrome skos:closeMatch MONDO:0007113 Angelman syndrome semapv:ManualMappingCuration +NANDO:1200687 Smith-Magenis syndrome skos:closeMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:closeMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:closeMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:closeMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration +NANDO:1200689 Emanuel syndrome skos:closeMatch MONDO:0012176 Emanuel syndrome semapv:ManualMappingCuration +NANDO:1200690 Fragile X syndrome related diseases skos:closeMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualMappingCuration +NANDO:1200691 Fragile X tremor/ataxia syndrome skos:closeMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualMappingCuration +NANDO:1200692 Fragile X syndrome skos:closeMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration +NANDO:1200698 Corrected transposition of great arteries skos:closeMatch MONDO:0019443 dextro-looped transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200699 Complete transposition of the great arteries skos:closeMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200701 Complete transposition of the great arteries (Group2) skos:closeMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200703 Complete transposition of the great arteries (Group4) skos:closeMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200704 Single ventricle skos:closeMatch MONDO:0015451 univentricular heart semapv:ManualMappingCuration +NANDO:1200705 Hypoplastic left heart syndrome skos:closeMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration +NANDO:1200706 Tricuspid atresia skos:closeMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:1200707 Pulmonary atresia with intact ventricular septum skos:closeMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualMappingCuration +NANDO:1200708 Pulmonary atresia with ventricular septal defect skos:closeMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualMappingCuration +NANDO:1200709 Tetralogy of Fallot skos:closeMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration +NANDO:1200710 Double outlet right ventricle skos:closeMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration +NANDO:1200711 Ebstein's anomaly skos:closeMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration +NANDO:1200712 Alport's syndrome skos:closeMatch MONDO:0018965 Alport syndrome semapv:ManualMappingCuration +NANDO:1200713 Galloway-Mowat syndrome skos:closeMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration +NANDO:1200714 Rapidly progressive glomerulonephritis skos:closeMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualMappingCuration +NANDO:1200714 Rapidly progressive glomerulonephritis skos:closeMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualMappingCuration +NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:closeMatch MONDO:0003136 anti-basement membrane glomerulonephritis semapv:ManualMappingCuration +NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:closeMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration +NANDO:1200718 Goodpasture syndrome skos:closeMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration +NANDO:1200719 Primary nephrotic syndrome skos:closeMatch MONDO:0018170 idiopathic nephrotic syndrome semapv:ManualMappingCuration +NANDO:1200720 Minimal change nephrotic syndrome skos:closeMatch MONDO:0006835 lipoid nephrosis semapv:ManualMappingCuration +NANDO:1200721 Membranous nephropathy skos:closeMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualMappingCuration +NANDO:1200722 Focal segmental glomerulosclerosis skos:closeMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualMappingCuration +NANDO:1200723 Crescentic glomerulonephritis skos:closeMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualMappingCuration +NANDO:1200723 Crescentic glomerulonephritis skos:closeMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualMappingCuration +NANDO:1200725 Primary membranoproliferative glomerulonephritis skos:closeMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:1200726 Primary membranoproliferative glomerulonephritis type I skos:closeMatch MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I skos:closeMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:1200739 Primary membranoproliferative glomerulonephritis type II skos:closeMatch MONDO:0019736 dense deposit disease semapv:ManualMappingCuration +NANDO:1200741 Henoch-Schonlein purpura nephritis skos:closeMatch MONDO:0006785 obsolete Henoch-Schoenlein purpura semapv:ManualMappingCuration +NANDO:1200742 Congenital nephrogenic diabetes insipidus skos:closeMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualMappingCuration +NANDO:1200743 Interstitial cystitis (Hunner type) skos:closeMatch MONDO:0018301 interstitial cystitis semapv:ManualMappingCuration +NANDO:1200744 Osler disease skos:closeMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration +NANDO:1200745 Bronchiolitis obliterans skos:closeMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration +NANDO:1200746 Pulmonary alveolar proteinosis skos:closeMatch MONDO:0001437 pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200746 Pulmonary alveolar proteinosis skos:closeMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200747 Autoimmune pulmonary alveolar proteinosis skos:closeMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200748 Idiopathic pulmonary alveolar proteinosis skos:closeMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis skos:closeMatch MONDO:0018483 secondary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200750 Congenital alveolar proteinosis skos:closeMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200752 Obesity hypoventilation syndrome skos:closeMatch MONDO:0009763 obesity-hypoventilation syndrome semapv:ManualMappingCuration +NANDO:1200753 Congenital central hypoventilation syndrome skos:closeMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration +NANDO:1200755 Alpha-1-antitrypsin deficiency skos:closeMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration +NANDO:1200756 Carney complex skos:closeMatch MONDO:0015285 Carney complex semapv:ManualMappingCuration +NANDO:1200757 Wolfram syndrome skos:closeMatch MONDO:0018105 Wolfram syndrome semapv:ManualMappingCuration +NANDO:1200758 Peroxisomal disorder skos:closeMatch MONDO:0019053 peroxisomal disease semapv:ManualMappingCuration +NANDO:1200759 Peroxisome biogenesis disorders skos:closeMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualMappingCuration +NANDO:1200760 Zellweger syndrome skos:closeMatch MONDO:0019609 Zellweger spectrum disorders semapv:ManualMappingCuration +NANDO:1200761 Neonatal adrenoleukodystrophy skos:closeMatch MONDO:0018598 obsolete neonatal adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200762 Infantile Refsum disease skos:closeMatch MONDO:0019174 obsolete infantile Refsum disease semapv:ManualMappingCuration +NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 skos:closeMatch MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 semapv:ManualMappingCuration +NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency skos:closeMatch MONDO:0019233 disorder of peroxisomal beta oxidation semapv:ManualMappingCuration +NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency skos:closeMatch MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency semapv:ManualMappingCuration +NANDO:1200766 D-bifunctional protein deficiency skos:closeMatch MONDO:0009855 d-bifunctional protein deficiency semapv:ManualMappingCuration +NANDO:1200767 Sterol carrier protein 2 deficiency skos:closeMatch MONDO:0013391 sterol carrier protein 2 deficiency semapv:ManualMappingCuration +NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency skos:closeMatch MONDO:0013681 alpha-methylacyl-CoA racemase deficiency semapv:ManualMappingCuration +NANDO:1200769 Refsum disease skos:closeMatch MONDO:0009958 adult Refsum disease semapv:ManualMappingCuration +NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency skos:closeMatch MONDO:0017986 disorder of plasmalogens biosynthesis semapv:ManualMappingCuration +NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 skos:closeMatch MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 semapv:ManualMappingCuration +NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 skos:closeMatch MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 semapv:ManualMappingCuration +NANDO:1200773 Primary hyperoxaluria type 1 skos:closeMatch MONDO:0009823 primary hyperoxaluria type 1 semapv:ManualMappingCuration +NANDO:1200774 Acatalasemia skos:closeMatch MONDO:0013571 acatalasia semapv:ManualMappingCuration +NANDO:1200775 Hypoparathyroidism skos:closeMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration +NANDO:1200775 Hypoparathyroidism skos:closeMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration +NANDO:1200776 Pseudohypoparathyroidism skos:closeMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia skos:closeMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:1200779 Vitamin D-resistant rickets skos:closeMatch MONDO:0010619 X-linked dominant hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:1200779 Vitamin D-resistant rickets skos:closeMatch MONDO:0010931 vitamin D-dependent rickets, type 2B semapv:ManualMappingCuration +NANDO:1200780 Vitamin D-resistant osteomalacia skos:closeMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia skos:closeMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration +NANDO:1200782 Vitamin D-dependent rickets, type 1 skos:closeMatch MONDO:0009924 vitamin D-dependent rickets, type 1 semapv:ManualMappingCuration +NANDO:1200783 Vitamin D-dependent rickets, type 2 skos:closeMatch MONDO:0019642 vitamin D-dependent rickets, type 2 semapv:ManualMappingCuration +NANDO:1200784 Phenylketonuria skos:closeMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:1200785 Phenylalanine hydroxylase deficiency skos:closeMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:1200786 Tetrahydrobiopterin deficiency skos:closeMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration +NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia skos:closeMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualMappingCuration +NANDO:1200788 Tyrosinemia type 1 skos:closeMatch MONDO:0010161 tyrosinemia type I semapv:ManualMappingCuration +NANDO:1200789 Tyrosinemia type 2 skos:closeMatch MONDO:0010160 tyrosinemia type II semapv:ManualMappingCuration +NANDO:1200790 Tyrosinemia type 3 skos:closeMatch MONDO:0010162 tyrosinemia type III semapv:ManualMappingCuration +NANDO:1200791 Maple syrup urine disease skos:closeMatch MONDO:0009563 maple syrup urine disease semapv:ManualMappingCuration +NANDO:1200792 Propionic acidemia skos:closeMatch MONDO:0011628 propionic acidemia semapv:ManualMappingCuration +NANDO:1200793 Methylmalonic acidemia skos:closeMatch MONDO:0002012 methylmalonic acidemia semapv:ManualMappingCuration +NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency skos:closeMatch MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency semapv:ManualMappingCuration +NANDO:1200795 Methylmalonic acidemia cblA type skos:closeMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualMappingCuration +NANDO:1200796 Methylmalonic acidemia cblB type skos:closeMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualMappingCuration +NANDO:1200797 Methylmalonic acidemia CblD type skos:closeMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualMappingCuration +NANDO:1200798 Isovaleric acidemia skos:closeMatch MONDO:0009475 isovaleric acidemia semapv:ManualMappingCuration +NANDO:1200799 Glucose transporter 1 deficiency skos:closeMatch MONDO:0000188 GLUT1 deficiency syndrome semapv:ManualMappingCuration +NANDO:1200799 Glucose transporter 1 deficiency skos:closeMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualMappingCuration +NANDO:1200800 Glutaric acidemia type 1 skos:closeMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:1200801 Glutaric acidemia type 2 skos:closeMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:1200802 Urea cycle disorder skos:closeMatch MONDO:0004739 urea cycle disorder semapv:ManualMappingCuration +NANDO:1200803 Carbamoyl phosphate synthetase I deficiency skos:closeMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualMappingCuration +NANDO:1200804 Ornithine transcarbamylase deficiency skos:closeMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualMappingCuration +NANDO:1200805 Classic citrullinemia skos:closeMatch MONDO:0008988 citrullinemia type I semapv:ManualMappingCuration +NANDO:1200806 Argininosuccinic aciduria skos:closeMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualMappingCuration +NANDO:1200807 Argininemia skos:closeMatch MONDO:0008814 hyperargininemia semapv:ManualMappingCuration +NANDO:1200808 NAGS deficiency skos:closeMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration +NANDO:1200809 Lysinuric protein intolerance skos:closeMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualMappingCuration +NANDO:1200810 Hereditary folate malabsorption skos:closeMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualMappingCuration +NANDO:1200811 Porphyria skos:closeMatch MONDO:0037939 porphyria semapv:ManualMappingCuration +NANDO:1200812 Acute intermittent porphyria skos:closeMatch MONDO:0008294 acute intermittent porphyria semapv:ManualMappingCuration +NANDO:1200813 Hereditary coproporphyria skos:closeMatch MONDO:0007369 hereditary coproporphyria semapv:ManualMappingCuration +NANDO:1200814 Variegate porphyria skos:closeMatch MONDO:0008297 variegate porphyria semapv:ManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:closeMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:closeMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:closeMatch MONDO:0019263 autosomal erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:1200816 Porphyria cutanea tarda skos:closeMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualMappingCuration +NANDO:1200818 X-linked dominant protoporphyria skos:closeMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:1200819 Hepatoerythropoietic porphyria skos:closeMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualMappingCuration +NANDO:1200820 Multiple carboxylase deficiency skos:closeMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualMappingCuration +NANDO:1200821 Holocarboxylase synthetase deficiency skos:closeMatch MONDO:0009666 holocarboxylase synthetase deficiency semapv:ManualMappingCuration +NANDO:1200822 Biotinidase deficiency skos:closeMatch MONDO:0009665 biotinidase deficiency semapv:ManualMappingCuration +NANDO:1200823 Muscle glycogen storage disease skos:closeMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration +NANDO:1200823 Muscle glycogen storage disease skos:closeMatch MONDO:0016118 obsolete muscular glycogenosis semapv:ManualMappingCuration +NANDO:1200824 Glycogen storage diseases type 0 skos:closeMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:1200824 Glycogen storage diseases type 0 skos:closeMatch MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:1200825 Glycogen storage diseases type II skos:closeMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration +NANDO:1200826 Glycogen storage diseases type III skos:closeMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:1200827 Glycogen storage diseases type IV skos:closeMatch MONDO:0008222 Andersen-Tawil syndrome semapv:ManualMappingCuration +NANDO:1200827 Glycogen storage diseases type IV skos:closeMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration +NANDO:1200828 Glycogen storage diseases type V skos:closeMatch MONDO:0009293 glycogen storage disease V semapv:ManualMappingCuration +NANDO:1200829 Glycogen storage diseases type VII skos:closeMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration +NANDO:1200830 Glycogen storage diseases type IXd skos:closeMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualMappingCuration +NANDO:1200832 Glycogen storage diseases type X skos:closeMatch MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency semapv:ManualMappingCuration +NANDO:1200833 Glycogen storage diseases type XI skos:closeMatch MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:ManualMappingCuration +NANDO:1200834 Glycogen storage diseases type XII skos:closeMatch MONDO:0012747 glycogen storage disease due to aldolase A deficiency semapv:ManualMappingCuration +NANDO:1200835 Glycogen storage diseases type XIII skos:closeMatch MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency semapv:ManualMappingCuration +NANDO:1200836 Glycogen storage diseases type XIV skos:closeMatch MONDO:0013968 PGM1-congenital disorder of glycosylation semapv:ManualMappingCuration +NANDO:1200837 Glycogen storage diseases type XV skos:closeMatch MONDO:0013291 glycogen storage disease XV semapv:ManualMappingCuration +NANDO:1200838 Hepatic glycogen storage disease skos:closeMatch MONDO:0002412 disorder of glycogen metabolism semapv:ManualMappingCuration +NANDO:1200840 Hepatic glycogen storage disease type Ia skos:closeMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration +NANDO:1200841 Hepatic glycogen storage disease type Ib skos:closeMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration +NANDO:1200841 Hepatic glycogen storage disease type Ib skos:closeMatch MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation semapv:ManualMappingCuration +NANDO:1200844 Hepatic GSD type IIIc skos:closeMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:1200846 Hepatic glycogen storage disease type VI skos:closeMatch MONDO:0009294 glycogen storage disease VI semapv:ManualMappingCuration +NANDO:1200847 Hepatic glycogen storage disease type IXa skos:closeMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualMappingCuration +NANDO:1200848 Hepatic glycogen storage disease type IXb skos:closeMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualMappingCuration +NANDO:1200849 Hepatic glycogen storage disease type IXc skos:closeMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualMappingCuration +NANDO:1200850 Hepatic glycogen storage disease type IV skos:closeMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration +NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency skos:closeMatch MONDO:0009258 classic galactosemia semapv:ManualMappingCuration +NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:closeMatch MONDO:0009515 Norum disease semapv:ManualMappingCuration +NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:closeMatch MONDO:0018999 LCAT deficiency semapv:ManualMappingCuration +NANDO:1200853 Sitosterolemia skos:closeMatch MONDO:0008863 sitosterolemia semapv:ManualMappingCuration +NANDO:1200854 Tangier disease skos:closeMatch MONDO:0008783 Tangier disease semapv:ManualMappingCuration +NANDO:1200856 Cerebrotendinous xanthomatosis skos:closeMatch MONDO:0008948 cerebrotendinous xanthomatosis semapv:ManualMappingCuration +NANDO:1200857 Abetalipoproteinemia skos:closeMatch MONDO:0008692 abetalipoproteinemia semapv:ManualMappingCuration +NANDO:1200858 Lipodystrophy skos:closeMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration +NANDO:1200859 Generalized congenital lipodystrophy skos:closeMatch MONDO:0006536 congenital generalized lipodystrophy semapv:ManualMappingCuration +NANDO:1200859 Generalized congenital lipodystrophy skos:closeMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualMappingCuration +NANDO:1200860 Acquired generalized lipodystrophy skos:closeMatch MONDO:0019193 acquired generalized lipodystrophy semapv:ManualMappingCuration +NANDO:1200861 Familial partial lipodystrophy skos:closeMatch MONDO:0020088 familial partial lipodystrophy semapv:ManualMappingCuration +NANDO:1200862 Acquired partial lipodystrophy skos:closeMatch MONDO:0012104 acquired partial lipodystrophy semapv:ManualMappingCuration +NANDO:1200863 Familial Mediterranean fever skos:closeMatch MONDO:0018088 familial Mediterranean fever semapv:ManualMappingCuration +NANDO:1200864 Typical familial Mediterranean fever skos:closeMatch MONDO:0009572 autosomal recessive familial Mediterranean fever semapv:ManualMappingCuration +NANDO:1200866 Hyper IgD syndrome skos:closeMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualMappingCuration +NANDO:1200866 Hyper IgD syndrome skos:closeMatch MONDO:0012481 mevalonic aciduria semapv:ManualMappingCuration +NANDO:1200867 Nakajo-Nishimura syndrome skos:closeMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:closeMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualMappingCuration +NANDO:1200869 Chronic recurrent multifocal osteomyelitis skos:closeMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualMappingCuration +NANDO:1200870 Ankylosing spondylitis skos:closeMatch MONDO:0005306 ankylosing spondylitis semapv:ManualMappingCuration +NANDO:1200871 Fibrodysplasia ossificans progressiva skos:closeMatch MONDO:0003964 myositis ossificans semapv:ManualMappingCuration +NANDO:1200871 Fibrodysplasia ossificans progressiva skos:closeMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualMappingCuration +NANDO:1200873 Osteogenesis imperfecta skos:closeMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualMappingCuration +NANDO:1200874 Thanatophoric dysplasia skos:closeMatch MONDO:0017042 thanatophoric dysplasia semapv:ManualMappingCuration +NANDO:1200875 Thanatophoric dysplasia type 1 skos:closeMatch MONDO:0008546 thanatophoric dysplasia type 1 semapv:ManualMappingCuration +NANDO:1200876 Thanatophoric dysplasia type 2 skos:closeMatch MONDO:0008547 thanatophoric dysplasia type 2 semapv:ManualMappingCuration +NANDO:1200877 Achondroplasia skos:closeMatch MONDO:0007037 Achondroplasia semapv:ManualMappingCuration +NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:closeMatch MONDO:0003157 disappearing bone disease semapv:ManualMappingCuration +NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:closeMatch MONDO:0007414 Gorham-Stout disease semapv:ManualMappingCuration +NANDO:1200879 obsolete Lymphangiomatosis skos:closeMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualMappingCuration +NANDO:1200880 obsolete Gorham disease skos:closeMatch MONDO:0003157 disappearing bone disease semapv:ManualMappingCuration +NANDO:1200880 obsolete Gorham disease skos:closeMatch MONDO:0007414 Gorham-Stout disease semapv:ManualMappingCuration +NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:closeMatch MONDO:0016233 obsolete rare lymphatic system malformation semapv:ManualMappingCuration +NANDO:1200884 Klippel-Trenaunay-Weber syndrome skos:closeMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualMappingCuration +NANDO:1200885 Congenital dyserythropoietic anemia skos:closeMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration +NANDO:1200886 Congenital dyserythropoietic anemia type I skos:closeMatch MONDO:0020337 congenital dyserythropoietic anemia type 1 semapv:ManualMappingCuration +NANDO:1200887 Congenital dyserythropoietic anemia type II skos:closeMatch MONDO:0009134 congenital dyserythropoietic anemia type 2 semapv:ManualMappingCuration +NANDO:1200888 Congenital dyserythropoietic anemia type III skos:closeMatch MONDO:0007109 congenital dyserythropoietic anemia type 3 semapv:ManualMappingCuration +NANDO:1200890 Diamond-Blackfan anemia skos:closeMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualMappingCuration +NANDO:1200891 Fanconi anemia skos:closeMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration +NANDO:1200893 Epstein syndrome skos:closeMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:1200896 Autoimmune acquired coagulation factor deficiency skos:closeMatch MONDO:0020599 acquired coagulation factor deficiency semapv:ManualMappingCuration +NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 skos:closeMatch MONDO:0021133 acquired factor XIII deficiency semapv:ManualMappingCuration +NANDO:1200898 Acquired hemophilia A skos:closeMatch MONDO:0019139 acquired hemophilia semapv:ManualMappingCuration +NANDO:1200899 Acquired von Willebrand disease skos:closeMatch MONDO:0020460 acquired von willebrand syndrome semapv:ManualMappingCuration +NANDO:1200901 Cronkhite-Canada syndrome skos:closeMatch MONDO:0008283 Cronkhite-Canada syndrome semapv:ManualMappingCuration +NANDO:1200903 Hirschsprung disease skos:closeMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration +NANDO:1200909 Cloacal exstrophy skos:closeMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:1200910 Persistent cloaca skos:closeMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:1200911 Congenital diaphragmatic hernia skos:closeMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration +NANDO:1200913 Biliary atresia skos:closeMatch MONDO:0008867 biliary atresia semapv:ManualMappingCuration +NANDO:1200913 Biliary atresia skos:closeMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualMappingCuration +NANDO:1200918 Alagille syndrome skos:closeMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration +NANDO:1200919 Typical Alagille syndrome skos:closeMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration +NANDO:1200921 Hereditary pancreatitis skos:closeMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualMappingCuration +NANDO:1200922 Cystic fibrosis skos:closeMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:1200923 IgG4-related disease skos:closeMatch MONDO:0017287 IgG4-related disease semapv:ManualMappingCuration +NANDO:1200924 IgG4-related disease skos:closeMatch MONDO:0017287 IgG4-related disease semapv:ManualMappingCuration +NANDO:1200925 Autoimmune pancreatitis skos:closeMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualMappingCuration +NANDO:1200928 IgG4-related sclerosing cholangitis skos:closeMatch MONDO:0018645 IgG4-related sclerosing cholangitis semapv:ManualMappingCuration +NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis semapv:ManualMappingCuration +NANDO:1200930 IgG4-related kidney disease skos:closeMatch MONDO:0018671 IgG4-related kidney disease semapv:ManualMappingCuration +NANDO:1200931 Macular dystrophy skos:closeMatch MONDO:0020242 hereditary macular dystrophy semapv:ManualMappingCuration +NANDO:1200932 Vitelliform macular dystrophy skos:closeMatch MONDO:0000390 vitelliform macular dystrophy semapv:ManualMappingCuration +NANDO:1200933 Stargardt disease skos:closeMatch MONDO:0019353 Stargardt disease semapv:ManualMappingCuration +NANDO:1200934 Occult macular dystrophy skos:closeMatch MONDO:0013316 occult macular dystrophy semapv:ManualMappingCuration +NANDO:1200936 Cone dystrophy skos:closeMatch MONDO:0000455 cone dystrophy semapv:ManualMappingCuration +NANDO:1200937 Cone-rod dystrophy skos:closeMatch MONDO:0015993 cone-rod dystrophy semapv:ManualMappingCuration +NANDO:1200938 X-linked juvenile retinoschisis skos:closeMatch MONDO:0010725 X-linked retinoschisis semapv:ManualMappingCuration +NANDO:1200939 Central areolar choroidal dystrophy skos:closeMatch MONDO:0004890 partial central choroid dystrophy semapv:ManualMappingCuration +NANDO:1200939 Central areolar choroidal dystrophy skos:closeMatch MONDO:0008982 central areolar choroidal dystrophy semapv:ManualMappingCuration +NANDO:1200940 Leber hereditary optic neuropathy skos:closeMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualMappingCuration +NANDO:1200941 Usher syndrome skos:closeMatch MONDO:0019501 Usher syndrome semapv:ManualMappingCuration +NANDO:1200942 Usher syndrome type I skos:closeMatch MONDO:0010168 Usher syndrome type 1 semapv:ManualMappingCuration +NANDO:1200943 Usher syndrome Type II skos:closeMatch MONDO:0016484 Usher syndrome type 2 semapv:ManualMappingCuration +NANDO:1200944 Usher syndrome Type III skos:closeMatch MONDO:0016485 Usher syndrome type 3 semapv:ManualMappingCuration +NANDO:1200948 Canavan disease skos:closeMatch MONDO:0010079 Canavan disease semapv:ManualMappingCuration +NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts skos:closeMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualMappingCuration +NANDO:1200951 Vanishing white matter disease skos:closeMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualMappingCuration +NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure skos:closeMatch MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure semapv:ManualMappingCuration +NANDO:1200953 Progressive myoclonus epilepsy skos:closeMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualMappingCuration +NANDO:1200954 Unverricht-Lundborg disease skos:closeMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualMappingCuration +NANDO:1200955 Lafora disease skos:closeMatch MONDO:0009697 Lafora disease semapv:ManualMappingCuration +NANDO:1200956 Benign adult familial myoclonus epilepsy skos:closeMatch MONDO:0019448 benign adult familial myoclonic epilepsy semapv:ManualMappingCuration +NANDO:1200957 Congenital anomalies syndrome skos:closeMatch MONDO:0000839 obsolete congenital abnormality semapv:ManualMappingCuration +NANDO:1200958 Partial trisomy 1q skos:closeMatch MONDO:0016952 partial duplication of the long arm of chromosome 1 semapv:ManualMappingCuration +NANDO:1200959 9q34 deletion syndrome skos:closeMatch MONDO:0012455 Kleefstra syndrome semapv:ManualMappingCuration +NANDO:1200960 Cornelia de lange syndrome skos:closeMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualMappingCuration +NANDO:1200961 Smith-lemli-opitz syndrome skos:closeMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualMappingCuration +NANDO:1200962 Congenital tricuspid stenosis skos:closeMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:1200962 Congenital tricuspid stenosis skos:closeMatch MONDO:0019813 congenital tricuspid stenosis semapv:ManualMappingCuration +NANDO:1200963 Congenital mitral stenosis skos:closeMatch MONDO:0005852 mitral valve stenosis semapv:ManualMappingCuration +NANDO:1200963 Congenital mitral stenosis skos:closeMatch MONDO:0020398 congenital mitral stenosis semapv:ManualMappingCuration +NANDO:1200964 Congenital pulmonary vein stenosis skos:closeMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualMappingCuration +NANDO:1200967 Nail-patella syndrome skos:closeMatch MONDO:0008061 nail-patella syndrome semapv:ManualMappingCuration +NANDO:1200969 Carnitine cycle disorders skos:closeMatch MONDO:0017716 disorder of carnitine cycle and carnitine transport semapv:ManualMappingCuration +NANDO:1200970 Carnitine palmitoyltransferase I deficiency skos:closeMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualMappingCuration +NANDO:1200971 Carnitine palmitoyltransferase II deficiency skos:closeMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:1200972 Carnitine-acylcarnitine translocase deficiency skos:closeMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualMappingCuration +NANDO:1200973 Systemic primary carnitine deficiency skos:closeMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualMappingCuration +NANDO:1200974 Trifunctional protein deficiency skos:closeMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration +NANDO:1200978 Citrin deficiency skos:closeMatch MONDO:0016602 citrin deficiency semapv:ManualMappingCuration +NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency skos:closeMatch MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency semapv:ManualMappingCuration +NANDO:1200980 Adult-onset type II citrullinemia skos:closeMatch MONDO:0011326 citrullinemia, type II, adult-onset semapv:ManualMappingCuration +NANDO:1200980 Adult-onset type II citrullinemia skos:closeMatch MONDO:0016603 citrullinemia type II semapv:ManualMappingCuration +NANDO:1200982 Sepiapterin reductase deficiency skos:closeMatch MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:ManualMappingCuration +NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency skos:closeMatch MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:ManualMappingCuration +NANDO:1200984 Nonketotic hyperglycinemia skos:closeMatch MONDO:0011612 glycine encephalopathy semapv:ManualMappingCuration +NANDO:1200985 Neonatal nonketotic hyperglycinemia skos:closeMatch MONDO:0017353 neonatal glycine encephalopathy semapv:ManualMappingCuration +NANDO:1200986 Infantile nonketotic hyperglycinemia skos:closeMatch MONDO:0017354 infantile glycine encephalopathy semapv:ManualMappingCuration +NANDO:1200987 Beta-ketothiolase deficiency skos:closeMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualMappingCuration +NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency skos:closeMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualMappingCuration +NANDO:1200989 Methylglutaconic aciduria skos:closeMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualMappingCuration +NANDO:1200990 3-methylglutaconic aciduria type I skos:closeMatch MONDO:0009610 3-methylglutaconic aciduria type 1 semapv:ManualMappingCuration +NANDO:1200991 3-methylglutaconicaciduria type II skos:closeMatch MONDO:0010543 Barth syndrome semapv:ManualMappingCuration +NANDO:1200992 3-methylglutaconic aciduria type III skos:closeMatch MONDO:0009787 3-methylglutaconic aciduria type 3 semapv:ManualMappingCuration +NANDO:1200994 NLRC4 mutation skos:closeMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:1200996 Aicardi-Goutières Syndrome skos:closeMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration +NANDO:1200997 A20 haploinsufficiency skos:closeMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualMappingCuration +NANDO:1200998 Osteopetrosis skos:closeMatch MONDO:0017198 osteopetrosis semapv:ManualMappingCuration +NANDO:1201000 Anterior segment dysgenesis skos:closeMatch MONDO:0019503 anterior segment dysgenesis semapv:ManualMappingCuration +NANDO:1201001 Aniridia skos:closeMatch MONDO:0019172 aniridia semapv:ManualMappingCuration +NANDO:1201003 Congenital tracheal stenosis skos:closeMatch MONDO:0011340 congenital tracheal stenosis semapv:ManualMappingCuration +NANDO:1201004 Congenital subglottic stenosis skos:closeMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualMappingCuration +NANDO:1201006 Gelatinous drop-like corneal dystrophy skos:closeMatch MONDO:0008777 gelatinous drop-like corneal dystrophy semapv:ManualMappingCuration +NANDO:1201007 Hutchinson-Gilford syndrome skos:closeMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualMappingCuration +NANDO:1201009 Systemic granulomatosis with polyangiitis skos:closeMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:1201010 Diffuse cutaneous systemic sclerosis skos:closeMatch MONDO:0016356 diffuse cutaneous systemic sclerosis semapv:ManualMappingCuration +NANDO:1201011 Limited cutaneous systemic sclerosis skos:closeMatch MONDO:0016358 limited cutaneous systemic sclerosis semapv:ManualMappingCuration +NANDO:1201011 Limited cutaneous systemic sclerosis skos:closeMatch MONDO:0019563 CREST syndrome semapv:ManualMappingCuration +NANDO:1201018 Hepatic glycogen storage disease type I skos:closeMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration +NANDO:1201019 Hepatic glycogen storage disease type III skos:closeMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:1201020 Hepatic glycogen storage disease type IX skos:closeMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualMappingCuration +NANDO:1201021 Cystic fibrosis skos:closeMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:1201029 Mesangial proliferative glomerulonephritis skos:closeMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2100002 Leukemia skos:closeMatch MONDO:0004355 childhood leukemia semapv:ManualMappingCuration +NANDO:2100002 Leukemia skos:closeMatch MONDO:0005059 leukemia semapv:ManualMappingCuration +NANDO:2100003 Myelodysplastic syndrome skos:closeMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2100003 Myelodysplastic syndrome skos:closeMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2100004 Lymphoma skos:closeMatch MONDO:0003659 pediatric lymphoma semapv:ManualMappingCuration +NANDO:2100004 Lymphoma skos:closeMatch MONDO:0003660 adult lymphoma semapv:ManualMappingCuration +NANDO:2100004 Lymphoma skos:closeMatch MONDO:0005062 lymphoma semapv:ManualMappingCuration +NANDO:2100005 Histiocytosis skos:closeMatch MONDO:0002637 histiocytosis semapv:ManualMappingCuration +NANDO:2100007 Central nervous system tumors skos:closeMatch MONDO:0002714 central nervous system cancer semapv:ManualMappingCuration +NANDO:2100008 Chronic kidney disease skos:closeMatch MONDO:0005300 chronic kidney disease semapv:ManualMappingCuration +NANDO:2100009 Nephrotic syndrome skos:closeMatch MONDO:0005377 nephrotic syndrome semapv:ManualMappingCuration +NANDO:2100012 Chronic pyelonephritis skos:closeMatch MONDO:0001110 chronic pyelonephritis semapv:ManualMappingCuration +NANDO:2100014 Familial juvenile hyperuricemic nephropathy skos:closeMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualMappingCuration +NANDO:2100015 Nephronophthisis skos:closeMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:2100016 Renovascular hypertension skos:closeMatch MONDO:0001105 renal hypertension semapv:ManualMappingCuration +NANDO:2100016 Renovascular hypertension skos:closeMatch MONDO:0006947 renovascular hypertension semapv:ManualMappingCuration +NANDO:2100019 Renal tubular acidosis skos:closeMatch MONDO:0001909 renal tubular acidosis semapv:ManualMappingCuration +NANDO:2100020 Gitelman syndrome skos:closeMatch MONDO:0009904 Gitelman syndrome semapv:ManualMappingCuration +NANDO:2100021 Bartter syndrome skos:closeMatch MONDO:0015231 Bartter syndrome semapv:ManualMappingCuration +NANDO:2100023 Chronic renal failure skos:closeMatch MONDO:0005300 chronic kidney disease semapv:ManualMappingCuration +NANDO:2100023 Chronic renal failure skos:closeMatch MONDO:0024327 chronic renal failure syndrome semapv:ManualMappingCuration +NANDO:2100027 Fanconi syndrome skos:closeMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualMappingCuration +NANDO:2100028 Lowe syndrome skos:closeMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualMappingCuration +NANDO:2100031 Bronchial asthma skos:closeMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualMappingCuration +NANDO:2100032 Congenital central hypoventilation syndrome skos:closeMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration +NANDO:2100034 Primary ciliary dyskinesia skos:closeMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration +NANDO:2100035 Cystic fibrosis skos:closeMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:2100036 Bronchiectasis skos:closeMatch MONDO:0004822 bronchiectasis semapv:ManualMappingCuration +NANDO:2100037 Idiopathic pulmonary hemosiderosis skos:closeMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration +NANDO:2100039 Bronchiolitis obliterans skos:closeMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration +NANDO:2100040 Congenital diaphragmatic hernia skos:closeMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration +NANDO:2100043 Sick sinus syndrome skos:closeMatch MONDO:0001823 sick sinus syndrome semapv:ManualMappingCuration +NANDO:2100044 Mobitz type II second degree atrioventricular block skos:closeMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualMappingCuration +NANDO:2100046 Bundle branch block skos:closeMatch MONDO:0020803 obsolete bundle branch block semapv:ManualMappingCuration +NANDO:2100049 Ventricular tachycardia skos:closeMatch MONDO:0005477 ventricular tachycardia semapv:ManualMappingCuration +NANDO:2100050 Atrial flutter skos:closeMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration +NANDO:2100051 Atrial fibrillation skos:closeMatch MONDO:0004981 atrial fibrillation semapv:ManualMappingCuration +NANDO:2100052 Ventricular fibrillation skos:closeMatch MONDO:0000190 ventricular fibrillation semapv:ManualMappingCuration +NANDO:2100053 Long QT syndrome skos:closeMatch MONDO:0002442 long QT syndrome semapv:ManualMappingCuration +NANDO:2100054 Hypertrophic cardiomyopathy skos:closeMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:closeMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualMappingCuration +NANDO:2100057 Dilated cardiomyopathy skos:closeMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualMappingCuration +NANDO:2100058 Restrictive cardiomyopathy skos:closeMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:2100060 Endocardial fibroelastosis skos:closeMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualMappingCuration +NANDO:2100061 Cardiac tumor skos:closeMatch MONDO:0021209 heart neoplasm semapv:ManualMappingCuration +NANDO:2100064 Constrictive pericarditis skos:closeMatch MONDO:0006711 constrictive pericarditis semapv:ManualMappingCuration +NANDO:2100070 Ischemic heart disease skos:closeMatch MONDO:0024644 myocardial ischemia semapv:ManualMappingCuration +NANDO:2100071 Hypoplastic left heart syndrome skos:closeMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration +NANDO:2100073 Tricuspid atresia skos:closeMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:2100075 Tetralogy of Fallot skos:closeMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration +NANDO:2100076 Double outlet right ventricle skos:closeMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration +NANDO:2100077 Double-outlet left ventricle skos:closeMatch MONDO:0018090 double outlet left ventricle semapv:ManualMappingCuration +NANDO:2100079 Congenitally corrected transposition of the great arteries skos:closeMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:2100080 Ebstein's anomaly skos:closeMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration +NANDO:2100082 Aorto-pulmonary window skos:closeMatch MONDO:0021902 aortopulmonary window semapv:ManualMappingCuration +NANDO:2100083 Cor triatriatum skos:closeMatch MONDO:0015450 triatrial heart semapv:ManualMappingCuration +NANDO:2100084 Patent ductus arteriosus skos:closeMatch MONDO:0011827 patent ductus arteriosus semapv:ManualMappingCuration +NANDO:2100085 Atrial septal defect skos:closeMatch MONDO:0006664 atrial septal defect semapv:ManualMappingCuration +NANDO:2100086 Complete atrioventricular septal defect skos:closeMatch MONDO:0015273 complete atrioventricular canal semapv:ManualMappingCuration +NANDO:2100087 Ventricular septal defect skos:closeMatch MONDO:0002070 ventricular septal defect semapv:ManualMappingCuration +NANDO:2100090 Left ventricular-right atrial communication skos:closeMatch MONDO:0020428 congenital Gerbode defect semapv:ManualMappingCuration +NANDO:2100092 Subvalvular pulmonary stenosis skos:closeMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualMappingCuration +NANDO:2100093 Subvalvular aortic stenosis skos:closeMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualMappingCuration +NANDO:2100095 Absent pulmonary valve skos:closeMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualMappingCuration +NANDO:2100098 Aortic stenosis skos:closeMatch MONDO:0004978 obsolete aortic stenosis semapv:ManualMappingCuration +NANDO:2100101 Aortic aneurysm skos:closeMatch MONDO:0005160 aortic aneurysm semapv:ManualMappingCuration +NANDO:2100103 Pulmonary arterial hypertension skos:closeMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2100105 Valvular heart disease skos:closeMatch MONDO:0002869 heart valve disorder semapv:ManualMappingCuration +NANDO:2100109 Endocrine disease skos:closeMatch MONDO:0005151 endocrine system disorder semapv:ManualMappingCuration +NANDO:2100110 Hypopituitarism skos:closeMatch MONDO:0005152 hypopituitarism semapv:ManualMappingCuration +NANDO:2100111 Pituitary gigantism skos:closeMatch MONDO:0020479 pituitary gigantism semapv:ManualMappingCuration +NANDO:2100112 Acromegaly skos:closeMatch MONDO:0019933 acromegaly semapv:ManualMappingCuration +NANDO:2100114 Growth hormone insensitivity skos:closeMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualMappingCuration +NANDO:2100115 Hyperprolactinemia skos:closeMatch MONDO:0005804 hyperprolactinemia semapv:ManualMappingCuration +NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone skos:closeMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration +NANDO:2100117 Diabetes insipidus skos:closeMatch MONDO:0004782 diabetes insipidus semapv:ManualMappingCuration +NANDO:2100119 Hyperthyroidism skos:closeMatch MONDO:0004425 hyperthyroidism semapv:ManualMappingCuration +NANDO:2100120 Hypothyroidism skos:closeMatch MONDO:0005420 hypothyroidism semapv:ManualMappingCuration +NANDO:2100121 Resistance to thyroid hormone skos:closeMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration +NANDO:2100121 Resistance to thyroid hormone skos:closeMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration +NANDO:2100123 Hyperparathyroidism skos:closeMatch MONDO:0001741 hyperparathyroidism semapv:ManualMappingCuration +NANDO:2100124 Hypoparathyroidism skos:closeMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration +NANDO:2100124 Hypoparathyroidism skos:closeMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration +NANDO:2100125 Autoimmune polyendocrinopathy skos:closeMatch MONDO:0017278 autoimmune polyendocrinopathy semapv:ManualMappingCuration +NANDO:2100126 Pseudohypoparathyroidism skos:closeMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:closeMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualMappingCuration +NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:closeMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualMappingCuration +NANDO:2100131 Liddle syndrome skos:closeMatch MONDO:0008323 Liddle syndrome semapv:ManualMappingCuration +NANDO:2100132 Hypoaldosteronism skos:closeMatch MONDO:0015900 hypoaldosteronism disease semapv:ManualMappingCuration +NANDO:2100133 Pseudohypoaldosteronism skos:closeMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualMappingCuration +NANDO:2100134 Congenital adrenal hyperplasia skos:closeMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:2100135 Precocious puberty skos:closeMatch MONDO:0000088 precocious puberty semapv:ManualMappingCuration +NANDO:2100138 Hypogonadotropic hypogonadism skos:closeMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:2100139 Hypergonadotropic hypogonadism skos:closeMatch MONDO:0005387 primary ovarian failure semapv:ManualMappingCuration +NANDO:2100140 Disorders of sex development skos:closeMatch MONDO:0002145 disorder of sexual differentiation semapv:ManualMappingCuration +NANDO:2100142 Glucagonoma skos:closeMatch MONDO:0019959 glucagonoma semapv:ManualMappingCuration +NANDO:2100143 Hyperinsulinemic hypoglycemia skos:closeMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualMappingCuration +NANDO:2100143 Hyperinsulinemic hypoglycemia skos:closeMatch MONDO:0017182 familial hyperinsulinism semapv:ManualMappingCuration +NANDO:2100144 Vitamin D-dependent rickets skos:closeMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration +NANDO:2100147 Lipodystrophy skos:closeMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration +NANDO:2100148 Multiple endocrine neoplasia skos:closeMatch MONDO:0017169 multiple endocrine neoplasia semapv:ManualMappingCuration +NANDO:2100149 Polycystic ovary syndrome skos:closeMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualMappingCuration +NANDO:2100151 Collagen disease skos:closeMatch MONDO:0005554 rheumatic disorder semapv:ManualMappingCuration +NANDO:2100152 Collagen disease skos:closeMatch MONDO:0005554 rheumatic disorder semapv:ManualMappingCuration +NANDO:2100154 Relapsing Polychondritis skos:closeMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration +NANDO:2100156 Autoinflammatory disease skos:closeMatch MONDO:0019751 autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2100157 Diabetes skos:closeMatch MONDO:0005015 diabetes mellitus semapv:ManualMappingCuration +NANDO:2100158 Diabetes skos:closeMatch MONDO:0005015 diabetes mellitus semapv:ManualMappingCuration +NANDO:2100159 Inborn errors of metabolism skos:closeMatch MONDO:0019052 inborn errors of metabolism semapv:ManualMappingCuration +NANDO:2100160 Disorder of amino acid metabolism skos:closeMatch MONDO:0037871 amino acid metabolism disease semapv:ManualMappingCuration +NANDO:2100161 Disorder of organic acid metabolism skos:closeMatch MONDO:0045022 disorder of organic acid metabolism semapv:ManualMappingCuration +NANDO:2100162 Disorder of fatty-acid metabolism skos:closeMatch MONDO:0037858 inherited fatty acid metabolism disorder semapv:ManualMappingCuration +NANDO:2100163 Mitochondrial diseases skos:closeMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualMappingCuration +NANDO:2100163 Mitochondrial diseases skos:closeMatch MONDO:0044970 mitochondrial disease semapv:ManualMappingCuration +NANDO:2100164 Disorder of carbohydrate metabolism skos:closeMatch MONDO:0019214 inborn carbohydrate metabolic disorder semapv:ManualMappingCuration +NANDO:2100164 Disorder of carbohydrate metabolism skos:closeMatch MONDO:0037792 carbohydrate metabolism disease semapv:ManualMappingCuration +NANDO:2100165 Lysosomal storage disease skos:closeMatch MONDO:0002561 lysosomal storage disease semapv:ManualMappingCuration +NANDO:2100166 Peroxisomal disorder skos:closeMatch MONDO:0019053 peroxisomal disease semapv:ManualMappingCuration +NANDO:2100172 Connective tissue disorder skos:closeMatch MONDO:0003900 connective tissue disorder semapv:ManualMappingCuration +NANDO:2100174 Alpha-1-antitrypsin deficiency skos:closeMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration +NANDO:2100175 Blood disease skos:closeMatch MONDO:0005570 hematologic disorder semapv:ManualMappingCuration +NANDO:2100176 Megaloblastic anemia skos:closeMatch MONDO:0001700 megaloblastic anemia semapv:ManualMappingCuration +NANDO:2100177 Pure red cell aplasia skos:closeMatch MONDO:0001705 pure red-cell aplasia semapv:ManualMappingCuration +NANDO:2100178 Congenital dyserythropoietic anemia skos:closeMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration +NANDO:2100179 Sideroblastic anemia skos:closeMatch MONDO:0015194 sideroblastic anemia semapv:ManualMappingCuration +NANDO:2100180 Congenital atransferrinemia skos:closeMatch MONDO:0008846 atransferrinemia semapv:ManualMappingCuration +NANDO:2100181 Autoimmune hemolytic anemia skos:closeMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualMappingCuration +NANDO:2100182 Paroxysmal nocturnal haemoglobinuria skos:closeMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:2100183 Hereditary hemolytic anemia skos:closeMatch MONDO:0003689 familial hemolytic anemia semapv:ManualMappingCuration +NANDO:2100186 Polycythemia vera skos:closeMatch MONDO:0009891 acquired polycythemia vera semapv:ManualMappingCuration +NANDO:2100187 Familial polycythemia skos:closeMatch MONDO:0001115 familial polycythemia semapv:ManualMappingCuration +NANDO:2100188 Thrombocytopenic purpura skos:closeMatch MONDO:0043768 thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2100189 Thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2100192 Cyclic thrombocytopenia skos:closeMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualMappingCuration +NANDO:2100193 May-Hegglin anomaly skos:closeMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:2100194 Essential thrombocythemia skos:closeMatch MONDO:0005029 essential thrombocythemia semapv:ManualMappingCuration +NANDO:2100197 Protein C deficiency skos:closeMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration +NANDO:2100198 Protein S deficiency skos:closeMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration +NANDO:2100200 Myelofibrosis skos:closeMatch MONDO:0044903 myelofibrosis semapv:ManualMappingCuration +NANDO:2100201 Aplastic anemia skos:closeMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:2100202 Immune system disease skos:closeMatch MONDO:0005046 immune system disorder semapv:ManualMappingCuration +NANDO:2100203 Combined immunodeficiency skos:closeMatch MONDO:0015131 combined immunodeficiency semapv:ManualMappingCuration +NANDO:2100203 Combined immunodeficiency skos:closeMatch MONDO:0018035 obsolete syndrome with combined immunodeficiency semapv:ManualMappingCuration +NANDO:2100204 Immunodeficiency skos:closeMatch MONDO:0003778 inborn error of immunity semapv:ManualMappingCuration +NANDO:2100204 Immunodeficiency skos:closeMatch MONDO:0021094 immunodeficiency disease semapv:ManualMappingCuration +NANDO:2100212 Acquired immune deficiency syndrome skos:closeMatch MONDO:0012268 AIDS semapv:ManualMappingCuration +NANDO:2100213 Chronic graft-versus-host disease skos:closeMatch MONDO:0020547 chronic graft versus host disease semapv:ManualMappingCuration +NANDO:2100214 Neuromuscular disease skos:closeMatch MONDO:0019056 neuromuscular disease semapv:ManualMappingCuration +NANDO:2100215 Myelomeningocele skos:closeMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration +NANDO:2100215 Myelomeningocele skos:closeMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration +NANDO:2100216 Sacrococcygeal teratoma skos:closeMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration +NANDO:2100217 Brain malformation skos:closeMatch MONDO:0016054 cerebral malformation semapv:ManualMappingCuration +NANDO:2100218 Joubert syndrome related disorders skos:closeMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration +NANDO:2100219 Rett syndrome skos:closeMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:2100220 Neurocutaneous syndrome skos:closeMatch MONDO:0042983 neurocutaneous syndrome semapv:ManualMappingCuration +NANDO:2100221 Progeroid syndromes skos:closeMatch MONDO:0015333 progeroid syndrome semapv:ManualMappingCuration +NANDO:2100223 ATR-X syndrome skos:closeMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration +NANDO:2100224 Fragile X syndrome skos:closeMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration +NANDO:2100226 Cerebral creatine deficiency syndromes skos:closeMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration +NANDO:2100227 Craniosynostosis skos:closeMatch MONDO:0015469 craniosynostosis semapv:ManualMappingCuration +NANDO:2100228 Moyamoya disease skos:closeMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration +NANDO:2100229 Cerebral arteriovenous malformation skos:closeMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualMappingCuration +NANDO:2100231 Spinal muscular atrophy skos:closeMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration +NANDO:2100231 Spinal muscular atrophy skos:closeMatch MONDO:0019079 proximal spinal muscular atrophy semapv:ManualMappingCuration +NANDO:2100233 Muscular dystrophy skos:closeMatch MONDO:0020121 muscular dystrophy semapv:ManualMappingCuration +NANDO:2100234 Congenital myopathy skos:closeMatch MONDO:0019952 congenital myopathy semapv:ManualMappingCuration +NANDO:2100235 Schwartz-Jampel syndrome skos:closeMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration +NANDO:2100237 Progressive myoclonus epilepsy skos:closeMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualMappingCuration +NANDO:2100238 Spinocerebellar degeneration skos:closeMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration +NANDO:2100239 Alternating hemiplegia of childhood skos:closeMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:2100240 Dystonia musculorum deformans skos:closeMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration +NANDO:2100241 Neurodegeneration with brain iron accumulation skos:closeMatch MONDO:0018307 neurodegeneration with brain iron accumulation semapv:ManualMappingCuration +NANDO:2100242 Infantile bilateral striatal necrosis skos:closeMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualMappingCuration +NANDO:2100244 Aicardi-Goutières Syndrome skos:closeMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration +NANDO:2100245 Subacute sclerosing panencephalitis skos:closeMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:2100246 Rasmussen's encephalitis skos:closeMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration +NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration +NANDO:2100248 Autoimmune encephalitis skos:closeMatch MONDO:0020640 autoimmune encephalitis semapv:ManualMappingCuration +NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures skos:closeMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration +NANDO:2100250 Multiple sclerosis skos:closeMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration +NANDO:2100252 Myasthenia gravis skos:closeMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration +NANDO:2100255 Microvillus inclusion disease skos:closeMatch MONDO:0009635 microvillus inclusion disease semapv:ManualMappingCuration +NANDO:2100256 Intestinal lymphangiectasia skos:closeMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualMappingCuration +NANDO:2100257 Polyposis skos:closeMatch MONDO:0000147 polyposis semapv:ManualMappingCuration +NANDO:2100258 Cyclic vomiting syndrome skos:closeMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualMappingCuration +NANDO:2100259 Inflammatory bowel disease skos:closeMatch MONDO:0005265 inflammatory bowel disease semapv:ManualMappingCuration +NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine skos:closeMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualMappingCuration +NANDO:2100264 Autoimmune hepatitis skos:closeMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration +NANDO:2100265 Primary sclerosing cholangitis skos:closeMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualMappingCuration +NANDO:2100265 Primary sclerosing cholangitis skos:closeMatch MONDO:0018646 sclerosing cholangitis semapv:ManualMappingCuration +NANDO:2100267 Congenital hepatic fibrosis skos:closeMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualMappingCuration +NANDO:2100268 Liver cirrhosis skos:closeMatch MONDO:0005155 cirrhosis of liver semapv:ManualMappingCuration +NANDO:2100272 Crigler-Najjar syndrome skos:closeMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualMappingCuration +NANDO:2100274 Short bowel syndrome skos:closeMatch MONDO:0015183 short bowel syndrome semapv:ManualMappingCuration +NANDO:2100279 Chromosome abnormality skos:closeMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration +NANDO:2100280 Chromosome abnormality skos:closeMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration +NANDO:2100281 Skin disease skos:closeMatch MONDO:0005093 skin disorder semapv:ManualMappingCuration +NANDO:2100283 Congenital ichthyosis skos:closeMatch MONDO:0015947 inherited ichthyosis semapv:ManualMappingCuration +NANDO:2100284 Epidermolysis bullosa skos:closeMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2100285 Pustular psoriasis skos:closeMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration +NANDO:2100286 Xeroderma pigmentosum skos:closeMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration +NANDO:2100287 von Recklinghausen's disease skos:closeMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:2100288 Pachydermoperiostosis skos:closeMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration +NANDO:2100288 Pachydermoperiostosis skos:closeMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration +NANDO:2100290 Stevens-Johnson syndrome skos:closeMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration +NANDO:2100291 Bone disease skos:closeMatch MONDO:0005381 bone disorder semapv:ManualMappingCuration +NANDO:2100293 Bone disease skos:closeMatch MONDO:0005381 bone disorder semapv:ManualMappingCuration +NANDO:2100294 Vascular disease skos:closeMatch MONDO:0005385 vascular disorder semapv:ManualMappingCuration +NANDO:2100295 Vascular malformation skos:closeMatch MONDO:0024291 vascular malformation semapv:ManualMappingCuration +NANDO:2100296 Hereditary hemorrhagic telangiectasia skos:closeMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration +NANDO:2100297 Kasabach-Merritt syndrome skos:closeMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualMappingCuration +NANDO:2200001 B-cell precursor lymphoblastic leukemia skos:closeMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200002 Mature B-cell lymphoblastic leukemia skos:closeMatch MONDO:0000872 B-cell childhood acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200003 T-cell lymphoblastic leukemia skos:closeMatch MONDO:0004963 T-cell acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200004 Acute myeloid leukemia with minimal differentiation skos:closeMatch MONDO:0005223 acute myeloid leukemia with minimal differentiation semapv:ManualMappingCuration +NANDO:2200005 Acute myeloid leukemia without maturation skos:closeMatch MONDO:0005224 acute myeloblastic leukemia without maturation semapv:ManualMappingCuration +NANDO:2200006 Acute myeloid leukemia with maturation skos:closeMatch MONDO:0020320 acute myeloblastic leukemia with maturation semapv:ManualMappingCuration +NANDO:2200007 Acute promyelocytic leukemia skos:closeMatch MONDO:0012883 acute promyelocytic leukemia semapv:ManualMappingCuration +NANDO:2200008 Acute monocytic leukemia skos:closeMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200008 Acute monocytic leukemia skos:closeMatch MONDO:0007896 acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200009 Acute monocytic leukemia skos:closeMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200009 Acute monocytic leukemia skos:closeMatch MONDO:0007896 acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200010 Acute erythremia skos:closeMatch MONDO:0017858 acute erythroid leukemia semapv:ManualMappingCuration +NANDO:2200011 Acute megakaryoblastic leukemia skos:closeMatch MONDO:0018872 acute megakaryoblastic leukemia semapv:ManualMappingCuration +NANDO:2200012 NK cell leukemia skos:closeMatch MONDO:0019470 aggressive NK-cell leukemia semapv:ManualMappingCuration +NANDO:2200013 Chronic myeloid leukemia skos:closeMatch MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive semapv:ManualMappingCuration +NANDO:2200014 Chronic myelomonocytic leukemia skos:closeMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualMappingCuration +NANDO:2200014 Chronic myelomonocytic leukemia skos:closeMatch MONDO:0020311 chronic myelomonocytic leukemia semapv:ManualMappingCuration +NANDO:2200015 Juvenile myelomonocytic leukemia skos:closeMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualMappingCuration +NANDO:2200017 Acute undifferentiated leukemia skos:closeMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualMappingCuration +NANDO:2200017 Acute undifferentiated leukemia skos:closeMatch MONDO:0020321 acute undifferentiated leukemia semapv:ManualMappingCuration +NANDO:2200018 Mixed phenotype acute leukemia skos:closeMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualMappingCuration +NANDO:2200018 Mixed phenotype acute leukemia skos:closeMatch MONDO:0020743 mixed phenotype acute leukemia semapv:ManualMappingCuration +NANDO:2200019 Myelodysplastic syndrome skos:closeMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2200019 Myelodysplastic syndrome skos:closeMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2200020 Mature B-cell lymphoma skos:closeMatch MONDO:0015759 B-cell non-Hodgkin lymphoma semapv:ManualMappingCuration +NANDO:2200021 Anaplastic large cell lymphoma skos:closeMatch MONDO:0020325 anaplastic large cell lymphoma semapv:ManualMappingCuration +NANDO:2200022 Precursor B lymphoblastic lymphoma skos:closeMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200023 Precursor T lymphoblastic lymphoma skos:closeMatch MONDO:0044917 T-lymphoblastic lymphoma semapv:ManualMappingCuration +NANDO:2200024 Hodgkin lymphoma skos:closeMatch MONDO:0004952 Hodgkins lymphoma semapv:ManualMappingCuration +NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type skos:closeMatch MONDO:0019472 extranodal nasal NK/T cell lymphoma semapv:ManualMappingCuration +NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified skos:closeMatch MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified semapv:ManualMappingCuration +NANDO:2200029 Angioimmunoblastic T-cell lymphoma skos:closeMatch MONDO:0004977 angioimmunoblastic T-cell lymphoma semapv:ManualMappingCuration +NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma skos:closeMatch MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma semapv:ManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:closeMatch MONDO:0017025 Langerhans cell histiocytosis specific to childhood semapv:ManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:closeMatch MONDO:0017029 Langerhans cell histiocytosis specific to adulthood semapv:ManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:closeMatch MONDO:0018310 Langerhans cell histiocytosis semapv:ManualMappingCuration +NANDO:2200032 Hemophagocytic lymphohistiocytosis skos:closeMatch MONDO:0015540 hemophagocytic syndrome semapv:ManualMappingCuration +NANDO:2200034 Follicular dendritic cell sarcoma skos:closeMatch MONDO:0005764 follicular dendritic cell sarcoma semapv:ManualMappingCuration +NANDO:2200035 Interdigitating dendritic cell sarcoma skos:closeMatch MONDO:0005813 interdigitating dendritic cell sarcoma semapv:ManualMappingCuration +NANDO:2200036 Langerhans cell sarcoma skos:closeMatch MONDO:0019480 Langerhans cell sarcoma semapv:ManualMappingCuration +NANDO:2200037 Juvenile xanthogranuloma skos:closeMatch MONDO:0015534 juvenile xanthogranuloma semapv:ManualMappingCuration +NANDO:2200038 Erdheim-Chester disease skos:closeMatch MONDO:0018153 Erdheim-Chester disease semapv:ManualMappingCuration +NANDO:2200039 Rosai-Dorfman disease skos:closeMatch MONDO:0006412 sinus histiocytosis with massive lymphadenopathy semapv:ManualMappingCuration +NANDO:2200039 Rosai-Dorfman disease skos:closeMatch MONDO:0044354 obsolete Rosai-Dorfman disease semapv:ManualMappingCuration +NANDO:2200040 Neuroblastoma skos:closeMatch MONDO:0005072 neuroblastoma semapv:ManualMappingCuration +NANDO:2200041 Ganglioneuroblastoma skos:closeMatch MONDO:0005035 ganglioneuroblastoma semapv:ManualMappingCuration +NANDO:2200042 Retinoblastoma skos:closeMatch MONDO:0008380 retinoblastoma semapv:ManualMappingCuration +NANDO:2200043 Wilms tumour skos:closeMatch MONDO:0019004 kidney Wilms tumor semapv:ManualMappingCuration +NANDO:2200044 Clear cell sarcoma of the kidney skos:closeMatch MONDO:0005006 clear cell sarcoma of kidney semapv:ManualMappingCuration +NANDO:2200045 Renal cell carcinoma skos:closeMatch MONDO:0005086 renal cell carcinoma semapv:ManualMappingCuration +NANDO:2200045 Renal cell carcinoma skos:closeMatch MONDO:0005549 renal cell adenocarcinoma semapv:ManualMappingCuration +NANDO:2200046 Hepatoblastoma skos:closeMatch MONDO:0018666 hepatoblastoma semapv:ManualMappingCuration +NANDO:2200047 Hepatocellular carcinoma skos:closeMatch MONDO:0007256 hepatocellular carcinoma semapv:ManualMappingCuration +NANDO:2200048 Osteosarcoma skos:closeMatch MONDO:0002623 pediatric osteosarcoma semapv:ManualMappingCuration +NANDO:2200048 Osteosarcoma skos:closeMatch MONDO:0009807 osteosarcoma semapv:ManualMappingCuration +NANDO:2200049 Osteochondromatosis skos:closeMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration +NANDO:2200049 Osteochondromatosis skos:closeMatch MONDO:0008145 Ollier disease semapv:ManualMappingCuration +NANDO:2200050 Chondrosarcoma skos:closeMatch MONDO:0008977 chondrosarcoma semapv:ManualMappingCuration +NANDO:2200051 Chondroblastoma skos:closeMatch MONDO:0004997 chondroblastoma semapv:ManualMappingCuration +NANDO:2200052 Malignancy in giant cell tumour of bone skos:closeMatch MONDO:0006287 malignancy in giant cell tumor of bone semapv:ManualMappingCuration +NANDO:2200053 Ewing's sarcoma skos:closeMatch MONDO:0012817 Ewing sarcoma semapv:ManualMappingCuration +NANDO:2200055 Peripheral primitive neuroectodermal tumors skos:closeMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualMappingCuration +NANDO:2200056 Rhabdomyosarcoma skos:closeMatch MONDO:0005212 rhabdomyosarcoma semapv:ManualMappingCuration +NANDO:2200057 Malignant rhabdoid tumour skos:closeMatch MONDO:0002728 rhabdoid tumor semapv:ManualMappingCuration +NANDO:2200058 Undifferentiated sarcoma skos:closeMatch MONDO:0005102 undifferentiated (embryonal) sarcoma semapv:ManualMappingCuration +NANDO:2200059 Desmoplastic small round cell tumors skos:closeMatch MONDO:0019373 desmoplastic small round cell tumor semapv:ManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:closeMatch MONDO:0002676 adult fibrosarcoma semapv:ManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:closeMatch MONDO:0002678 pediatric fibrosarcoma semapv:ManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:closeMatch MONDO:0005164 fibrosarcoma semapv:ManualMappingCuration +NANDO:2200061 Synovial sarcoma skos:closeMatch MONDO:0010434 synovial sarcoma semapv:ManualMappingCuration +NANDO:2200062 Clear cell sarcoma skos:closeMatch MONDO:0002926 clear cell sarcoma semapv:ManualMappingCuration +NANDO:2200063 Alveolar soft part sarcoma skos:closeMatch MONDO:0011655 alveolar soft part sarcoma semapv:ManualMappingCuration +NANDO:2200064 Leiomyosarcoma skos:closeMatch MONDO:0005058 leiomyosarcoma semapv:ManualMappingCuration +NANDO:2200065 Liposarcoma skos:closeMatch MONDO:0003585 adult liposarcoma semapv:ManualMappingCuration +NANDO:2200065 Liposarcoma skos:closeMatch MONDO:0003587 pediatric liposarcoma semapv:ManualMappingCuration +NANDO:2200065 Liposarcoma skos:closeMatch MONDO:0005060 liposarcoma semapv:ManualMappingCuration +NANDO:2200066 Dysgerminoma skos:closeMatch MONDO:0003002 dysgerminoma semapv:ManualMappingCuration +NANDO:2200067 Embryonal carcinoma skos:closeMatch MONDO:0005440 embryonal carcinoma semapv:ManualMappingCuration +NANDO:2200068 Polyembryoma skos:closeMatch MONDO:0015863 polyembryoma semapv:ManualMappingCuration +NANDO:2200069 Yolk sac tumour skos:closeMatch MONDO:0005744 yolk sac tumor semapv:ManualMappingCuration +NANDO:2200070 Choriocarcinoma skos:closeMatch MONDO:0005207 choriocarcinoma semapv:ManualMappingCuration +NANDO:2200071 Mixed germ cell tumour skos:closeMatch MONDO:0015864 mixed germ cell tumor semapv:ManualMappingCuration +NANDO:2200072 Sex-cord stromal tumour skos:closeMatch MONDO:0006055 sex cord-stromal tumor semapv:ManualMappingCuration +NANDO:2200073 Adrenocortical carcinoma skos:closeMatch MONDO:0006639 adrenal cortex carcinoma semapv:ManualMappingCuration +NANDO:2200074 Thyroid cancer skos:closeMatch MONDO:0002108 thyroid cancer semapv:ManualMappingCuration +NANDO:2200074 Thyroid cancer skos:closeMatch MONDO:0015075 thyroid gland carcinoma semapv:ManualMappingCuration +NANDO:2200076 Salivary grand carcinoma skos:closeMatch MONDO:0000521 salivary gland carcinoma semapv:ManualMappingCuration +NANDO:2200077 Malignant melanoma skos:closeMatch MONDO:0005105 melanoma semapv:ManualMappingCuration +NANDO:2200078 Pheochromocytoma skos:closeMatch MONDO:0004974 adrenal gland pheochromocytoma semapv:ManualMappingCuration +NANDO:2200079 Malignant thymoma skos:closeMatch MONDO:0006451 thymic carcinoma semapv:ManualMappingCuration +NANDO:2200080 Pleuropulmonaryblastoma skos:closeMatch MONDO:0011014 pleuropulmonary blastoma semapv:ManualMappingCuration +NANDO:2200081 Bronchial tumour skos:closeMatch MONDO:0002807 bronchial neoplasm semapv:ManualMappingCuration +NANDO:2200082 Pancreatoblastoma skos:closeMatch MONDO:0019035 pancreatoblastoma semapv:ManualMappingCuration +NANDO:2200084 Pilocytic astrocytoma skos:closeMatch MONDO:0004000 childhood pilocytic astrocytoma semapv:ManualMappingCuration +NANDO:2200084 Pilocytic astrocytoma skos:closeMatch MONDO:0016691 pilocytic astrocytoma semapv:ManualMappingCuration +NANDO:2200085 Diffuse astrocytoma skos:closeMatch MONDO:0016686 diffuse astrocytoma semapv:ManualMappingCuration +NANDO:2200086 Anaplastic astrocytoma skos:closeMatch MONDO:0016684 anaplastic astrocytoma semapv:ManualMappingCuration +NANDO:2200087 Glioblastoma skos:closeMatch MONDO:0018177 glioblastoma semapv:ManualMappingCuration +NANDO:2200087 Glioblastoma skos:closeMatch MONDO:0020690 adult glioblastoma semapv:ManualMappingCuration +NANDO:2200088 Ependymoma skos:closeMatch MONDO:0016698 ependymoma semapv:ManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:closeMatch MONDO:0002540 childhood oligodendroglioma semapv:ManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:closeMatch MONDO:0002543 adult oligodendroglioma semapv:ManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:closeMatch MONDO:0016695 oligodendroglioma semapv:ManualMappingCuration +NANDO:2200090 Medulloblastoma skos:closeMatch MONDO:0002794 adult medulloblastoma semapv:ManualMappingCuration +NANDO:2200090 Medulloblastoma skos:closeMatch MONDO:0002797 childhood medulloblastoma semapv:ManualMappingCuration +NANDO:2200090 Medulloblastoma skos:closeMatch MONDO:0007959 medulloblastoma semapv:ManualMappingCuration +NANDO:2200091 Craniopharyngioma skos:closeMatch MONDO:0018907 craniopharyngioma semapv:ManualMappingCuration +NANDO:2200092 Pineocytoma skos:closeMatch MONDO:0016723 pineocytoma semapv:ManualMappingCuration +NANDO:2200093 Choroid plexus papilloma skos:closeMatch MONDO:0009837 choroid plexus papilloma semapv:ManualMappingCuration +NANDO:2200094 Meningioma skos:closeMatch MONDO:0003057 pediatric meningioma semapv:ManualMappingCuration +NANDO:2200094 Meningioma skos:closeMatch MONDO:0016642 meningioma semapv:ManualMappingCuration +NANDO:2200095 Pituitary adenoma skos:closeMatch MONDO:0006373 pituitary gland adenoma semapv:ManualMappingCuration +NANDO:2200096 Ganglioglioma skos:closeMatch MONDO:0016733 ganglioglioma semapv:ManualMappingCuration +NANDO:2200097 Gangliocytoma skos:closeMatch MONDO:0016730 gangliocytoma semapv:ManualMappingCuration +NANDO:2200098 Chordoma skos:closeMatch MONDO:0008978 chordoma semapv:ManualMappingCuration +NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system skos:closeMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualMappingCuration +NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system skos:closeMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualMappingCuration +NANDO:2200101 Atypical teratoid, rhabdoid tumour skos:closeMatch MONDO:0020560 atypical teratoid rhabdoid tumor semapv:ManualMappingCuration +NANDO:2200102 Malignant neurinoma skos:closeMatch MONDO:0017827 malignant peripheral nerve sheath tumor semapv:ManualMappingCuration +NANDO:2200103 Neurinoma skos:closeMatch MONDO:0002546 schwannoma semapv:ManualMappingCuration +NANDO:2200104 Teratoma of the central nervous system skos:closeMatch MONDO:0002718 central nervous system teratoma semapv:ManualMappingCuration +NANDO:2200105 Mature teratoma skos:closeMatch MONDO:0003517 mature teratoma semapv:ManualMappingCuration +NANDO:2200106 Immature teratoma skos:closeMatch MONDO:0024746 immature teratoma semapv:ManualMappingCuration +NANDO:2200107 Teratoma with malignant transformation skos:closeMatch MONDO:0006444 teratoma with malignant transformation semapv:ManualMappingCuration +NANDO:2200108 Intracranial germ cell tumour skos:closeMatch MONDO:0004218 childhood germ cell brain tumor semapv:ManualMappingCuration +NANDO:2200110 Congenital nephrotic syndrome of the Finnish type skos:closeMatch MONDO:0009732 congenital nephrotic syndrome, Finnish type semapv:ManualMappingCuration +NANDO:2200112 Minimal change nephrotic syndrome skos:closeMatch MONDO:0006835 lipoid nephrosis semapv:ManualMappingCuration +NANDO:2200113 Focal segmental glomerulosclerosis skos:closeMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualMappingCuration +NANDO:2200114 Membranous nephropathy skos:closeMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualMappingCuration +NANDO:2200116 Denys-Drash syndrome skos:closeMatch MONDO:0008682 Denys-Drash syndrome semapv:ManualMappingCuration +NANDO:2200117 Pierson syndrome skos:closeMatch MONDO:0012184 Pierson syndrome semapv:ManualMappingCuration +NANDO:2200118 Central nervous system malformation syndrome skos:closeMatch MONDO:0020022 central nervous system malformation semapv:ManualMappingCuration +NANDO:2200119 Herlitz junctional epidermolysis bullosa skos:closeMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration +NANDO:2200120 Galloway-Mowat syndrome skos:closeMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration +NANDO:2200121 IgA nephropathy skos:closeMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualMappingCuration +NANDO:2200122 Mesangial proliferative glomerulonephritis skos:closeMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2200123 Membranoproliferative glomerulonephritis skos:closeMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2200123 Membranoproliferative glomerulonephritis skos:closeMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2200125 Goodpasture syndrome skos:closeMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration +NANDO:2200126 Alport syndrome skos:closeMatch MONDO:0018965 Alport syndrome semapv:ManualMappingCuration +NANDO:2200127 Epstein syndrome skos:closeMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:2200128 Lupus nephritis skos:closeMatch MONDO:0005556 lupus nephritis semapv:ManualMappingCuration +NANDO:2200131 Atypical hemolytic uremic syndrome skos:closeMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:2200132 Nail-patella syndrome skos:closeMatch MONDO:0008061 nail-patella syndrome semapv:ManualMappingCuration +NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy skos:closeMatch MONDO:0007671 fibronectin glomerulopathy semapv:ManualMappingCuration +NANDO:2200134 Lipoprotein glomerulopathy skos:closeMatch MONDO:0012725 lipoprotein glomerulopathy semapv:ManualMappingCuration +NANDO:2200136 Tubulointerstitial nephritis skos:closeMatch MONDO:0001085 interstitial nephritis semapv:ManualMappingCuration +NANDO:2200137 Chronic pyelonephritis skos:closeMatch MONDO:0001110 chronic pyelonephritis semapv:ManualMappingCuration +NANDO:2200138 Amyloid nephropathy skos:closeMatch MONDO:0019065 amyloidosis semapv:ManualMappingCuration +NANDO:2200139 Familial juvenile hyperuricemic nephropathy skos:closeMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualMappingCuration +NANDO:2200140 Nephronophthisis skos:closeMatch MONDO:0009728 nephronophthisis 1 semapv:ManualMappingCuration +NANDO:2200140 Nephronophthisis skos:closeMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:2200141 Renovascular hypertension skos:closeMatch MONDO:0001105 renal hypertension semapv:ManualMappingCuration +NANDO:2200141 Renovascular hypertension skos:closeMatch MONDO:0006947 renovascular hypertension semapv:ManualMappingCuration +NANDO:2200144 Renal tubular acidosis skos:closeMatch MONDO:0001909 renal tubular acidosis semapv:ManualMappingCuration +NANDO:2200145 Gitelman syndrome skos:closeMatch MONDO:0009904 Gitelman syndrome semapv:ManualMappingCuration +NANDO:2200146 Bartter syndrome skos:closeMatch MONDO:0015231 Bartter syndrome semapv:ManualMappingCuration +NANDO:2200152 Polycystic kidney disease skos:closeMatch MONDO:0020642 polycystic kidney disease semapv:ManualMappingCuration +NANDO:2200153 Autosomal dominant polycystic kidney disease skos:closeMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualMappingCuration +NANDO:2200154 Autosomal recessive polycystic kidney disease skos:closeMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualMappingCuration +NANDO:2200155 Hypoplastic kidney skos:closeMatch MONDO:0019637 renal hypoplasia semapv:ManualMappingCuration +NANDO:2200156 Renal aplasia skos:closeMatch MONDO:0018470 renal agenesis semapv:ManualMappingCuration +NANDO:2200157 Potter syndrome skos:closeMatch MONDO:0001558 Potter sequence semapv:ManualMappingCuration +NANDO:2200158 Multicystic dysplastic kidney skos:closeMatch MONDO:0015988 multicystic dysplastic kidney semapv:ManualMappingCuration +NANDO:2200159 Oligomeganephronia skos:closeMatch MONDO:0016407 oligomeganephronia semapv:ManualMappingCuration +NANDO:2200161 Renal dysplasia skos:closeMatch MONDO:0019638 renal dysplasia semapv:ManualMappingCuration +NANDO:2200170 Medullary cystic kidney skos:closeMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:2200171 Multilocular cysts of the kidney skos:closeMatch MONDO:0019983 multiloculated renal cyst semapv:ManualMappingCuration +NANDO:2200172 Simple renal cyst skos:closeMatch MONDO:0002473 cystic kidney disease semapv:ManualMappingCuration +NANDO:2200173 Medullary sponge kidney skos:closeMatch MONDO:0015268 medullary sponge kidney semapv:ManualMappingCuration +NANDO:2200176 Ureteropelvic junction obstruction skos:closeMatch MONDO:0007741 congenital hydronephrosis semapv:ManualMappingCuration +NANDO:2200177 Megacalycosis skos:closeMatch MONDO:0019639 congenital megacalycosis semapv:ManualMappingCuration +NANDO:2200178 Obstructive uropathy skos:closeMatch MONDO:0003330 urinary tract obstruction semapv:ManualMappingCuration +NANDO:2200179 Vesicoureteral reflux skos:closeMatch MONDO:0006007 vesicoureteral reflux semapv:ManualMappingCuration +NANDO:2200183 Ureteroceles skos:closeMatch MONDO:0008628 ureterocele semapv:ManualMappingCuration +NANDO:2200184 Megaureter skos:closeMatch MONDO:0018960 congenital primary megaureter semapv:ManualMappingCuration +NANDO:2200185 Prune belly syndrome skos:closeMatch MONDO:0007032 prune belly syndrome semapv:ManualMappingCuration +NANDO:2200187 Fanconi syndrome skos:closeMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualMappingCuration +NANDO:2200188 Lowe syndrome skos:closeMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualMappingCuration +NANDO:2200190 Laryngeal stenosis skos:closeMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualMappingCuration +NANDO:2200194 Tracheal stenosis skos:closeMatch MONDO:0002568 tracheal stenosis semapv:ManualMappingCuration +NANDO:2200195 Tracheomalacia skos:closeMatch MONDO:0019804 tracheomalacia semapv:ManualMappingCuration +NANDO:2200198 Congenital central hypoventilation syndrome skos:closeMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration +NANDO:2200199 Idiopathic interstitial pneumonia skos:closeMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualMappingCuration +NANDO:2200200 Congenital alveolar proteinosis skos:closeMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:2200202 Pulmonary alveolar microlithiasis skos:closeMatch MONDO:0009928 pulmonary alveolar microlithiasis semapv:ManualMappingCuration +NANDO:2200203 Primary ciliary dyskinesia skos:closeMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration +NANDO:2200204 Kartagener syndrome skos:closeMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration +NANDO:2200205 Cystic fibrosis skos:closeMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:2200206 Bronchiectasis skos:closeMatch MONDO:0004822 bronchiectasis semapv:ManualMappingCuration +NANDO:2200207 Idiopathic pulmonary hemosiderosis skos:closeMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration +NANDO:2200209 Bronchiolitis obliterans skos:closeMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration +NANDO:2200210 Congenital diaphragmatic hernia skos:closeMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration +NANDO:2200212 Sick sinus syndrome skos:closeMatch MONDO:0001823 sick sinus syndrome semapv:ManualMappingCuration +NANDO:2200213 Mobitz type II second degree atrioventricular block skos:closeMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualMappingCuration +NANDO:2200214 Complete atrio-ventricular block skos:closeMatch MONDO:0000468 third-degree atrioventricular block semapv:ManualMappingCuration +NANDO:2200215 Bundle branch block skos:closeMatch MONDO:0020803 obsolete bundle branch block semapv:ManualMappingCuration +NANDO:2200216 Polymorphic ventricular premature beat skos:closeMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualMappingCuration +NANDO:2200217 Supraventricular tachycardia due to WPW syndrome skos:closeMatch MONDO:0008685 Wolff-Parkinson-White syndrome semapv:ManualMappingCuration +NANDO:2200218 Multiple atrial tachycardia skos:closeMatch MONDO:0005479 atrial tachycardia semapv:ManualMappingCuration +NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia skos:closeMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualMappingCuration +NANDO:2200225 Atrial flutter skos:closeMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration +NANDO:2200226 Atrial fibrillation skos:closeMatch MONDO:0004981 atrial fibrillation semapv:ManualMappingCuration +NANDO:2200227 Ventricular fibrillation skos:closeMatch MONDO:0000190 ventricular fibrillation semapv:ManualMappingCuration +NANDO:2200228 Long qt syndrome skos:closeMatch MONDO:0002442 long QT syndrome semapv:ManualMappingCuration +NANDO:2200228 Long qt syndrome skos:closeMatch MONDO:0019171 familial long QT syndrome semapv:ManualMappingCuration +NANDO:2200229 Hypertrophic cardiomyopathy skos:closeMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:closeMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualMappingCuration +NANDO:2200231 Non-compaction of the ventricle skos:closeMatch MONDO:0018901 left ventricular noncompaction semapv:ManualMappingCuration +NANDO:2200232 Dilated cardiomyopathy skos:closeMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualMappingCuration +NANDO:2200233 Restrictive cardiomyopathy skos:closeMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:2200234 Aneurysm of ventricle skos:closeMatch MONDO:0006779 heart aneurysm semapv:ManualMappingCuration +NANDO:2200234 Aneurysm of ventricle skos:closeMatch MONDO:0015677 cardiac diverticulum semapv:ManualMappingCuration +NANDO:2200235 Endocardial fibroelastosis skos:closeMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualMappingCuration +NANDO:2200236 Cardiac tumor skos:closeMatch MONDO:0021209 heart neoplasm semapv:ManualMappingCuration +NANDO:2200239 Constrictive pericarditis skos:closeMatch MONDO:0006711 constrictive pericarditis semapv:ManualMappingCuration +NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery skos:closeMatch MONDO:0000811 anomalous left coronary artery from the pulmonary artery semapv:ManualMappingCuration +NANDO:2200246 Stenosis or atresia of coronary artery skos:closeMatch MONDO:0006715 coronary stenosis semapv:ManualMappingCuration +NANDO:2200248 Myocardial infarction skos:closeMatch MONDO:0005068 myocardial infarction semapv:ManualMappingCuration +NANDO:2200249 Hypoplastic left heart syndrome skos:closeMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration +NANDO:2200250 Single ventricle skos:closeMatch MONDO:0015451 univentricular heart semapv:ManualMappingCuration +NANDO:2200251 Tricuspid atresia skos:closeMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:2200252 Pulmonary atresia with ventricular septal defect skos:closeMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualMappingCuration +NANDO:2200253 Pulmonary atresia with intact ventricular septum skos:closeMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualMappingCuration +NANDO:2200254 Tetralogy of Fallot skos:closeMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration +NANDO:2200256 Double outlet right ventricle skos:closeMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration +NANDO:2200257 Double-outlet left ventricle skos:closeMatch MONDO:0018090 double outlet left ventricle semapv:ManualMappingCuration +NANDO:2200258 Complete transposition of the great arteries skos:closeMatch MONDO:0000153 transposition of the great arteries semapv:ManualMappingCuration +NANDO:2200259 Congenitally corrected transposition of the great arteries skos:closeMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:2200260 Ebstein's anomaly skos:closeMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration +NANDO:2200262 Aorto-pulmonary window skos:closeMatch MONDO:0021902 aortopulmonary window semapv:ManualMappingCuration +NANDO:2200263 Cor triatriatum skos:closeMatch MONDO:0015450 triatrial heart semapv:ManualMappingCuration +NANDO:2200264 Patent ductus arteriosus skos:closeMatch MONDO:0011827 patent ductus arteriosus semapv:ManualMappingCuration +NANDO:2200266 Atrial septal defect, ostium secundum type skos:closeMatch MONDO:0020434 atrial septal defect, ostium secundum type semapv:ManualMappingCuration +NANDO:2200266 Atrial septal defect, ostium secundum type skos:closeMatch MONDO:0020439 patent foramen ovale semapv:ManualMappingCuration +NANDO:2200267 Atrial septal defect, sinus venosus type skos:closeMatch MONDO:0020436 atrial septal defect, sinus venosus type semapv:ManualMappingCuration +NANDO:2200268 Incomplete atrioventricular septal defect skos:closeMatch MONDO:0015275 partial atrioventricular canal semapv:ManualMappingCuration +NANDO:2200269 Complete atrioventricular septal defect skos:closeMatch MONDO:0015273 complete atrioventricular canal semapv:ManualMappingCuration +NANDO:2200270 Ventricular septal defect skos:closeMatch MONDO:0002070 ventricular septal defect semapv:ManualMappingCuration +NANDO:2200271 Total anomalous pulmonary venous connection skos:closeMatch MONDO:0007130 congenital total pulmonary venous return anomaly semapv:ManualMappingCuration +NANDO:2200272 Partial anomalous pulmonary venous connection skos:closeMatch MONDO:0020453 congenital partial pulmonary venous return anomaly semapv:ManualMappingCuration +NANDO:2200273 Pulmonary venous obstruction skos:closeMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualMappingCuration +NANDO:2200274 Left ventricular-right atrial communication skos:closeMatch MONDO:0020428 congenital Gerbode defect semapv:ManualMappingCuration +NANDO:2200275 Double-chambered right ventricle skos:closeMatch MONDO:0016581 conotruncal heart malformations semapv:ManualMappingCuration +NANDO:2200276 Subvalvular pulmonary stenosis skos:closeMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualMappingCuration +NANDO:2200277 Subvalvular aortic stenosis skos:closeMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualMappingCuration +NANDO:2200278 Supravalvular pulmonary stenosis skos:closeMatch MONDO:0017870 supravalvular pulmonary stenosis semapv:ManualMappingCuration +NANDO:2200280 Absent pulmonary valve skos:closeMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualMappingCuration +NANDO:2200281 Origin of pulmonary artery from ascending aorta skos:closeMatch MONDO:0020391 pulmonary artery coming from the aorta semapv:ManualMappingCuration +NANDO:2200282 Unilateral absence of a pulmonary artery skos:closeMatch MONDO:0020007 absence of the pulmonary artery semapv:ManualMappingCuration +NANDO:2200283 Coarctation of the aorta skos:closeMatch MONDO:0007345 aorta coarctation semapv:ManualMappingCuration +NANDO:2200284 Coarctation complex skos:closeMatch MONDO:0007345 aorta coarctation semapv:ManualMappingCuration +NANDO:2200285 Supravalvular aortic stenosis skos:closeMatch MONDO:0008504 supravalvular aortic stenosis semapv:ManualMappingCuration +NANDO:2200286 Williams syndrome skos:closeMatch MONDO:0008678 Williams syndrome semapv:ManualMappingCuration +NANDO:2200288 Interruption of aortic arch complex skos:closeMatch MONDO:0009010 aortic arch interruption semapv:ManualMappingCuration +NANDO:2200290 Double aortic arch disease skos:closeMatch MONDO:0020413 encircling double aortic arch semapv:ManualMappingCuration +NANDO:2200293 Aneurysm of sinus valsalva skos:closeMatch MONDO:0015197 aneurysm of sinus of Valsalva semapv:ManualMappingCuration +NANDO:2200294 Aortic aneurysm skos:closeMatch MONDO:0005160 aortic aneurysm semapv:ManualMappingCuration +NANDO:2200295 Pulmonary arteriovenous fistulae skos:closeMatch MONDO:0009930 obsolete pulmonary arteriovenous malformation semapv:ManualMappingCuration +NANDO:2200296 Coronary artery fistula skos:closeMatch MONDO:0016081 coronary arterial fistulas semapv:ManualMappingCuration +NANDO:2200298 Pulmonary arterial hypertension skos:closeMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2200299 Chronic cor pulmonale skos:closeMatch MONDO:0001493 chronic pulmonary heart disease semapv:ManualMappingCuration +NANDO:2200300 Tricuspid valve stenosis skos:closeMatch MONDO:0005997 tricuspid valve stenosis semapv:ManualMappingCuration +NANDO:2200301 Tricuspid valve regurgitation skos:closeMatch MONDO:0002870 tricuspid valve insufficiency semapv:ManualMappingCuration +NANDO:2200302 Mitral valve stenosis skos:closeMatch MONDO:0005852 mitral valve stenosis semapv:ManualMappingCuration +NANDO:2200303 Mitral regurgitation skos:closeMatch MONDO:0001298 congenital mitral valve insufficiency semapv:ManualMappingCuration +NANDO:2200304 Pulmonary valve stenosis skos:closeMatch MONDO:0006936 pulmonary valve stenosis semapv:ManualMappingCuration +NANDO:2200305 Pulmonary valve regurgitation skos:closeMatch MONDO:0001927 pulmonary valve insufficiency semapv:ManualMappingCuration +NANDO:2200306 Aortic valve stenosis skos:closeMatch MONDO:0042981 aortic valve stenosis semapv:ManualMappingCuration +NANDO:2200307 Aortic valve regurgitation skos:closeMatch MONDO:0005648 aortic valve insufficiency semapv:ManualMappingCuration +NANDO:2200308 Supramitral ring skos:closeMatch MONDO:0020400 congenital supravalvular mitral ring semapv:ManualMappingCuration +NANDO:2200312 Congenital hypopituitarism skos:closeMatch MONDO:0018762 non-acquired combined pituitary hormone deficiency semapv:ManualMappingCuration +NANDO:2200313 Acquired hypopituitarism skos:closeMatch MONDO:0019832 acquired pituitary hormone deficiency semapv:ManualMappingCuration +NANDO:2200314 Pituitary gigantism skos:closeMatch MONDO:0020479 pituitary gigantism semapv:ManualMappingCuration +NANDO:2200315 Acromegaly skos:closeMatch MONDO:0019933 acromegaly semapv:ManualMappingCuration +NANDO:2200317 Congenital growth hormone deficiency skos:closeMatch MONDO:0000050 isolated congenital growth hormone deficiency semapv:ManualMappingCuration +NANDO:2200320 IGF1 insensitivity skos:closeMatch MONDO:0010038 growth delay due to insulin-like growth factor I resistance semapv:ManualMappingCuration +NANDO:2200321 Growth hormone insensitivity skos:closeMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualMappingCuration +NANDO:2200322 Hyperprolactinemia skos:closeMatch MONDO:0005804 hyperprolactinemia semapv:ManualMappingCuration +NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone skos:closeMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration +NANDO:2200324 Central diabetes insipidus skos:closeMatch MONDO:0015790 central diabetes insipidus semapv:ManualMappingCuration +NANDO:2200325 Adipsic hypernatremia skos:closeMatch MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome semapv:ManualMappingCuration +NANDO:2200326 Nephrogenic diabetes insipidus skos:closeMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualMappingCuration +NANDO:2200328 Basedow disease skos:closeMatch MONDO:0005364 Graves disease semapv:ManualMappingCuration +NANDO:2200329 Hyperthyroidism skos:closeMatch MONDO:0004425 hyperthyroidism semapv:ManualMappingCuration +NANDO:2200330 Ectoic thyroid skos:closeMatch MONDO:0019854 thyroid ectopia semapv:ManualMappingCuration +NANDO:2200331 Thyroid agenesis skos:closeMatch MONDO:0019855 athyreosis semapv:ManualMappingCuration +NANDO:2200332 Thyroid-stimulating hormone deficiency skos:closeMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration +NANDO:2200333 Congenital hypothyroidism skos:closeMatch MONDO:0018612 congenital hypothyroidism semapv:ManualMappingCuration +NANDO:2200335 Hashimoto disease skos:closeMatch MONDO:0007699 Hashimoto thyroiditis semapv:ManualMappingCuration +NANDO:2200336 Atrophic thyroiditis skos:closeMatch MONDO:0005624 atrophic thyroiditis semapv:ManualMappingCuration +NANDO:2200340 Central hypothyroidism skos:closeMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration +NANDO:2200341 Resistance to thyroid hormone skos:closeMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration +NANDO:2200341 Resistance to thyroid hormone skos:closeMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration +NANDO:2200343 Hyperparathyroidism skos:closeMatch MONDO:0001741 hyperparathyroidism semapv:ManualMappingCuration +NANDO:2200345 Hypoparathyroidism skos:closeMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration +NANDO:2200345 Hypoparathyroidism skos:closeMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration +NANDO:2200346 Autoimmune polyendocrinopathy type 1 skos:closeMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualMappingCuration +NANDO:2200347 Autoimmune polyendocrinopathy type 2 skos:closeMatch MONDO:0010012 autoimmune polyendocrinopathy type 2 semapv:ManualMappingCuration +NANDO:2200348 Pseudopseudohypoparathyroidism skos:closeMatch MONDO:0012912 pseudopseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:2200349 Pseudohypoparathyroidism skos:closeMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:2200350 Cushing disease skos:closeMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualMappingCuration +NANDO:2200351 Ectopic ACTH syndrome skos:closeMatch MONDO:0043472 ectopic ACTH secretion syndrome semapv:ManualMappingCuration +NANDO:2200352 Adrenal adenoma skos:closeMatch MONDO:0003924 adrenal cortex adenoma semapv:ManualMappingCuration +NANDO:2200357 Congenital adrenal hypoplasia skos:closeMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualMappingCuration +NANDO:2200357 Congenital adrenal hypoplasia skos:closeMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:2200358 Glucocorticoid resistance skos:closeMatch MONDO:0014421 glucocorticoid resistance semapv:ManualMappingCuration +NANDO:2200359 Other chronic adrenal insufficiency skos:closeMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:2200359 Other chronic adrenal insufficiency skos:closeMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration +NANDO:2200360 Addison's disease skos:closeMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:2200360 Addison's disease skos:closeMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration +NANDO:2200361 Aldosteronism skos:closeMatch MONDO:0001422 primary aldosteronism semapv:ManualMappingCuration +NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:closeMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualMappingCuration +NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:closeMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualMappingCuration +NANDO:2200363 Liddle syndrome skos:closeMatch MONDO:0008323 Liddle syndrome semapv:ManualMappingCuration +NANDO:2200365 Aldosterone synthase deficiency skos:closeMatch MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 semapv:ManualMappingCuration +NANDO:2200367 Pseudohypoaldosteronism skos:closeMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualMappingCuration +NANDO:2200368 Pseudohypoaldosteronism type I skos:closeMatch MONDO:0019161 pseudohypoaldosteronism type 1 semapv:ManualMappingCuration +NANDO:2200369 Pseudohypoaldosteronism type II skos:closeMatch MONDO:0019162 pseudohypoaldosteronism type 2 semapv:ManualMappingCuration +NANDO:2200370 Congenital lipoid adrenal hyperplasia skos:closeMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200372 11-β-Hydroxylase deficiency skos:closeMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200373 17 alpha-hydroxylase deficiency skos:closeMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200375 P450 oxidoreductase deficiency skos:closeMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualMappingCuration +NANDO:2200377 Gonadotropin-dependent precocious puberty skos:closeMatch MONDO:0019165 central precocious puberty semapv:ManualMappingCuration +NANDO:2200378 Non-gonadotropin-dependent precocious puberty skos:closeMatch MONDO:0015791 peripheral precocious puberty semapv:ManualMappingCuration +NANDO:2200379 Hyperestrogenism skos:closeMatch MONDO:0001946 obsolete hyperestrogenism semapv:ManualMappingCuration +NANDO:2200380 Hyperandrogenism skos:closeMatch MONDO:0001324 obsolete hyperandrogenism semapv:ManualMappingCuration +NANDO:2200381 Kallmann syndrome skos:closeMatch MONDO:0018800 Kallmann syndrome semapv:ManualMappingCuration +NANDO:2200382 Hypogonadotropic hypogonadism skos:closeMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:2200383 Testicular dysgenesis skos:closeMatch MONDO:0005437 testicular dysgenesis syndrome semapv:ManualMappingCuration +NANDO:2200386 Klinefelter syndrome skos:closeMatch MONDO:0006823 Klinefelter syndrome semapv:ManualMappingCuration +NANDO:2200387 Ovotesticular dsd skos:closeMatch MONDO:0016281 46,XX ovotesticular disorder of sex development semapv:ManualMappingCuration +NANDO:2200388 Mixed gonadal dysgenesis skos:closeMatch MONDO:0001969 mixed gonadal dysgenesis semapv:ManualMappingCuration +NANDO:2200388 Mixed gonadal dysgenesis skos:closeMatch MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis semapv:ManualMappingCuration +NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:ManualMappingCuration +NANDO:2200391 Androgen insensitivity syndrome skos:closeMatch MONDO:0019154 androgen insensitivity syndrome semapv:ManualMappingCuration +NANDO:2200393 Disorders of sex development of 46,XX skos:closeMatch MONDO:0020040 46,XY disorder of sex development semapv:ManualMappingCuration +NANDO:2200393 Disorders of sex development of 46,XX skos:closeMatch MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development semapv:ManualMappingCuration +NANDO:2200394 Vipoma skos:closeMatch MONDO:0019960 VIPoma semapv:ManualMappingCuration +NANDO:2200395 Gastrinoma skos:closeMatch MONDO:0003523 gastrin-producing neuroendocrine tumor semapv:ManualMappingCuration +NANDO:2200396 Carcinoid syndrome skos:closeMatch MONDO:0005369 carcinoid tumor semapv:ManualMappingCuration +NANDO:2200396 Carcinoid syndrome skos:closeMatch MONDO:0006689 obsolete carcinoid syndrome semapv:ManualMappingCuration +NANDO:2200397 Glucagonoma skos:closeMatch MONDO:0019959 glucagonoma semapv:ManualMappingCuration +NANDO:2200398 Insulinoma skos:closeMatch MONDO:0024677 pancreatic insulinoma semapv:ManualMappingCuration +NANDO:2200399 Congenital hyperinsulinemia skos:closeMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualMappingCuration +NANDO:2200399 Congenital hyperinsulinemia skos:closeMatch MONDO:0017182 familial hyperinsulinism semapv:ManualMappingCuration +NANDO:2200401 Vitamin D-dependent rickets skos:closeMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration +NANDO:2200402 Vitamin D-resistant osteomalacia skos:closeMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:2200403 Primary hypophosphatemic rickets skos:closeMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:2200404 Lipodystrophy skos:closeMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration +NANDO:2200405 Multiple endocrine neoplasia type 1 skos:closeMatch MONDO:0007540 multiple endocrine neoplasia type 1 semapv:ManualMappingCuration +NANDO:2200406 Multiple endocrine neoplasia type 2 skos:closeMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualMappingCuration +NANDO:2200406 Multiple endocrine neoplasia type 2 skos:closeMatch MONDO:0019003 multiple endocrine neoplasia type 2 semapv:ManualMappingCuration +NANDO:2200408 Von Hippel-Lindau disease skos:closeMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualMappingCuration +NANDO:2200409 Polycystic ovary syndrome skos:closeMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualMappingCuration +NANDO:2200410 Turner syndrome skos:closeMatch MONDO:0019499 Turner syndrome semapv:ManualMappingCuration +NANDO:2200411 Prader-Willi syndrome skos:closeMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualMappingCuration +NANDO:2200412 McCune-Albright syndrome skos:closeMatch MONDO:0018919 McCune-Albright syndrome semapv:ManualMappingCuration +NANDO:2200413 Noonan syndrome skos:closeMatch MONDO:0018997 Noonan syndrome semapv:ManualMappingCuration +NANDO:2200414 Bardet-Biedl syndrome skos:closeMatch MONDO:0015229 Bardet-Biedl syndrome semapv:ManualMappingCuration +NANDO:2200415 Juvenile idiopathic arthritis skos:closeMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2200416 Systemic lupus erythematosus skos:closeMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualMappingCuration +NANDO:2200418 Juvenile dermatomyositis skos:closeMatch MONDO:0008054 juvenile dermatomyositis semapv:ManualMappingCuration +NANDO:2200419 Juvenile polymyositis skos:closeMatch MONDO:0019734 juvenile polymyositis semapv:ManualMappingCuration +NANDO:2200420 Sjogren's syndrome skos:closeMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration +NANDO:2200421 Anti-phospholipid antibody syndrome skos:closeMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:2200422 Behcet's disease skos:closeMatch MONDO:0007191 Behcet disease semapv:ManualMappingCuration +NANDO:2200423 Takayasu arteritis skos:closeMatch MONDO:0006656 aortitis semapv:ManualMappingCuration +NANDO:2200423 Takayasu arteritis skos:closeMatch MONDO:0017991 Takayasu arteritis semapv:ManualMappingCuration +NANDO:2200424 Granulomatosis with polyangiitis skos:closeMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:2200426 Microscopic polyangiitis skos:closeMatch MONDO:0019124 microscopic polyangiitis semapv:ManualMappingCuration +NANDO:2200427 Eosinophilic granulomatosis with polyangiitis skos:closeMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:2200428 Relapsing polychondritis skos:closeMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration +NANDO:2200429 Systemic sclerosis skos:closeMatch MONDO:0005100 systemic sclerosis semapv:ManualMappingCuration +NANDO:2200430 Mixed connective tissue disease skos:closeMatch MONDO:0005854 mixed connective tissue disease semapv:ManualMappingCuration +NANDO:2200431 Familial Mediterranean fever skos:closeMatch MONDO:0018088 familial Mediterranean fever semapv:ManualMappingCuration +NANDO:2200432 Cryopyrin-associated periodic syndrome skos:closeMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualMappingCuration +NANDO:2200433 TNF receptor-associated periodic fever syndrome skos:closeMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualMappingCuration +NANDO:2200434 Blau syndrome, early onset sarcoidosis skos:closeMatch MONDO:0008523 Blau syndrome semapv:ManualMappingCuration +NANDO:2200435 Nakajo-Nishimura syndrome skos:closeMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200436 Hyper IgD syndrome skos:closeMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualMappingCuration +NANDO:2200436 Hyper IgD syndrome skos:closeMatch MONDO:0017708 mevalonate kinase deficiency semapv:ManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:closeMatch MONDO:0004471 bacterial arthritis semapv:ManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:closeMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:closeMatch MONDO:0018824 pyoderma gangrenosum semapv:ManualMappingCuration +NANDO:2200438 Chronic recurrent multifocal osteomyelitis skos:closeMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualMappingCuration +NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist skos:closeMatch MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis semapv:ManualMappingCuration +NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation skos:closeMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualMappingCuration +NANDO:2200443 CARD14 deficiency skos:closeMatch MONDO:0011269 psoriasis 2 semapv:ManualMappingCuration +NANDO:2200444 Cherubism skos:closeMatch MONDO:0007315 cherubism semapv:ManualMappingCuration +NANDO:2200446 IL10 deficiency skos:closeMatch MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:ManualMappingCuration +NANDO:2200447 IL-10RA deficiency skos:closeMatch MONDO:0013153 inflammatory bowel disease 28 semapv:ManualMappingCuration +NANDO:2200448 IL-10RB deficiency skos:closeMatch MONDO:0012941 inflammatory bowel disease 25 semapv:ManualMappingCuration +NANDO:2200449 NLRP12-associated periodic syndrome skos:closeMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualMappingCuration +NANDO:2200449 NLRP12-associated periodic syndrome skos:closeMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200451 PLCg2 deficiency skos:closeMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualMappingCuration +NANDO:2200452 IL36RN deficiency skos:closeMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualMappingCuration +NANDO:2200453 Majeed syndrome skos:closeMatch MONDO:0012316 Majeed syndrome semapv:ManualMappingCuration +NANDO:2200454 NLRP12-associated periodic syndrome skos:closeMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualMappingCuration +NANDO:2200454 NLRP12-associated periodic syndrome skos:closeMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation skos:closeMatch MONDO:0013766 familial cold autoinflammatory syndrome 3 semapv:ManualMappingCuration +NANDO:2200456 RBCK1 deficiency skos:closeMatch MONDO:0018348 obsolete polyglucosan body myopathy type 1 semapv:ManualMappingCuration +NANDO:2200457 SLC29A3 deficiency skos:closeMatch MONDO:0011273 H syndrome semapv:ManualMappingCuration +NANDO:2200458 A20 haploinsufficiency skos:closeMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualMappingCuration +NANDO:2200460 Diabetes mellitus type 1 skos:closeMatch MONDO:0005147 type 1 diabetes mellitus semapv:ManualMappingCuration +NANDO:2200461 Diabetes mellitus type 2 skos:closeMatch MONDO:0005148 type 2 diabetes mellitus semapv:ManualMappingCuration +NANDO:2200461 Diabetes mellitus type 2 skos:closeMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualMappingCuration +NANDO:2200462 Maturity-onset diabetes of the young skos:closeMatch MONDO:0018911 maturity-onset diabetes of the young semapv:ManualMappingCuration +NANDO:2200463 Neonatal diabetes mellitus skos:closeMatch MONDO:0016391 neonatal diabetes mellitus semapv:ManualMappingCuration +NANDO:2200465 Lipoatrophic diabetes skos:closeMatch MONDO:0005827 lipoatrophic diabetes semapv:ManualMappingCuration +NANDO:2200465 Lipoatrophic diabetes skos:closeMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualMappingCuration +NANDO:2200467 Phenylketonuria skos:closeMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:2200468 Tyrosinemia type 1 skos:closeMatch MONDO:0010161 tyrosinemia type I semapv:ManualMappingCuration +NANDO:2200469 Tyrosinemia type 2 skos:closeMatch MONDO:0010160 tyrosinemia type II semapv:ManualMappingCuration +NANDO:2200470 Tyrosinemia type 3 skos:closeMatch MONDO:0010162 tyrosinemia type III semapv:ManualMappingCuration +NANDO:2200471 Hyperprolinemia skos:closeMatch MONDO:0023419 hyperprolinemia semapv:ManualMappingCuration +NANDO:2200472 Prolidase deficiency skos:closeMatch MONDO:0008221 prolidase deficiency semapv:ManualMappingCuration +NANDO:2200473 Maple syrup urine disease skos:closeMatch MONDO:0009563 maple syrup urine disease semapv:ManualMappingCuration +NANDO:2200474 Homocystinuria skos:closeMatch MONDO:0004737 homocystinuria semapv:ManualMappingCuration +NANDO:2200475 Hypermethioninemia skos:closeMatch MONDO:0000351 disorder of methionine catabolism semapv:ManualMappingCuration +NANDO:2200476 Nonketotic hyperglycinemia skos:closeMatch MONDO:0011612 glycine encephalopathy semapv:ManualMappingCuration +NANDO:2200477 N-acetylglutamate synthetase deficiency skos:closeMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration +NANDO:2200478 Carbamoylphosphate synthetase deficiency skos:closeMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualMappingCuration +NANDO:2200479 Ornithine transcarbamylase deficiency skos:closeMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualMappingCuration +NANDO:2200480 Argininosuccinate synthetase deficiency skos:closeMatch MONDO:0008988 citrullinemia type I semapv:ManualMappingCuration +NANDO:2200481 Argininosuccinic aciduria skos:closeMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualMappingCuration +NANDO:2200482 Hyperargininemia skos:closeMatch MONDO:0008814 hyperargininemia semapv:ManualMappingCuration +NANDO:2200483 Citrin deficiency skos:closeMatch MONDO:0016602 citrin deficiency semapv:ManualMappingCuration +NANDO:2200484 Hyperornithinemia skos:closeMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualMappingCuration +NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:closeMatch MONDO:0009393 ornithine translocase deficiency semapv:ManualMappingCuration +NANDO:2200486 Gyrate atrophy of choroid and retina skos:closeMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualMappingCuration +NANDO:2200487 Hartnup disease skos:closeMatch MONDO:0009324 Hartnup disease semapv:ManualMappingCuration +NANDO:2200488 Lysinuric protein intolerance skos:closeMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualMappingCuration +NANDO:2200489 Cystinuria skos:closeMatch MONDO:0009067 cystinuria semapv:ManualMappingCuration +NANDO:2200491 Methylmalonic acidemia skos:closeMatch MONDO:0002012 methylmalonic acidemia semapv:ManualMappingCuration +NANDO:2200492 Propionic acidemia skos:closeMatch MONDO:0011628 propionic acidemia semapv:ManualMappingCuration +NANDO:2200493 Beta-ketothiolase deficiency skos:closeMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualMappingCuration +NANDO:2200494 Isovaleric acidemia skos:closeMatch MONDO:0009475 isovaleric acidemia semapv:ManualMappingCuration +NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency skos:closeMatch MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency semapv:ManualMappingCuration +NANDO:2200496 Methylglutaconic aciduria skos:closeMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualMappingCuration +NANDO:2200497 3-hydroxy-3-methylglutaric acidemia skos:closeMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualMappingCuration +NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:ManualMappingCuration +NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:ManualMappingCuration +NANDO:2200500 Multiple carboxylase deficiency skos:closeMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualMappingCuration +NANDO:2200501 Glutaric acidemia type 1 skos:closeMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200502 Glutaric acidemia type 2 skos:closeMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200503 Primary hyperoxaluria skos:closeMatch MONDO:0002474 primary hyperoxaluria semapv:ManualMappingCuration +NANDO:2200504 Alkaptonuria skos:closeMatch MONDO:0008753 alkaptonuria semapv:ManualMappingCuration +NANDO:2200505 Glycerol kinase deficiency skos:closeMatch MONDO:0010613 inborn glycerol kinase deficiency semapv:ManualMappingCuration +NANDO:2200506 Inborn errors of bile acid metabolism skos:closeMatch MONDO:0019218 inborn disorder of bile acid synthesis semapv:ManualMappingCuration +NANDO:2200508 Organic cation transporter 2 deficiency skos:closeMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualMappingCuration +NANDO:2200509 Carnitine palmitoyltransferase I deficiency skos:closeMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualMappingCuration +NANDO:2200510 Carnitine palmitoyltransferase II deficiency skos:closeMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:2200511 Carnitine-acylcarnitine translocase deficiency skos:closeMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualMappingCuration +NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency skos:closeMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency skos:closeMatch MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency skos:closeMatch MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200515 Trifunctional protein deficiency skos:closeMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration +NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency skos:closeMatch MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200518 Pyruvate dehydrogenase complex deficiency skos:closeMatch MONDO:0019169 pyruvate dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200519 Pyruvate carboxylase deficiency skos:closeMatch MONDO:0009949 pyruvate carboxylase deficiency disease semapv:ManualMappingCuration +NANDO:2200520 Fumarase deficiency skos:closeMatch MONDO:0011730 fumaric aciduria semapv:ManualMappingCuration +NANDO:2200522 Mitochondrial respiratory chain disorders skos:closeMatch MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:ManualMappingCuration +NANDO:2200523 Mitochondrial DNA depletion syndrome skos:closeMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualMappingCuration +NANDO:2200524 Diseases due to mitochondrial DNA mutation skos:closeMatch MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:ManualMappingCuration +NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) skos:closeMatch MONDO:0010789 MELAS syndrome semapv:ManualMappingCuration +NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers skos:closeMatch MONDO:0010790 MERRF syndrome semapv:ManualMappingCuration +NANDO:2200527 Leigh syndrome skos:closeMatch MONDO:0009723 Leigh syndrome semapv:ManualMappingCuration +NANDO:2200528 Diseases due to mitochondrial DNA deletion skos:closeMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualMappingCuration +NANDO:2200529 Kearns-Sayre syndrome skos:closeMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualMappingCuration +NANDO:2200531 Hereditary fructose intolerance skos:closeMatch MONDO:0009249 hereditary fructose intolerance semapv:ManualMappingCuration +NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency skos:closeMatch MONDO:0009258 classic galactosemia semapv:ManualMappingCuration +NANDO:2200533 Galactokinase deficiency skos:closeMatch MONDO:0009255 galactokinase deficiency semapv:ManualMappingCuration +NANDO:2200534 UDP-galactose-4-epimerase deficiency skos:closeMatch MONDO:0009257 galactose epimerase deficiency semapv:ManualMappingCuration +NANDO:2200535 Fructose-1,6-bisphosphatase deficiency skos:closeMatch MONDO:0009251 fructose-1,6-bisphosphatase deficiency semapv:ManualMappingCuration +NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency skos:closeMatch MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency semapv:ManualMappingCuration +NANDO:2200537 Glycogen synthase deficiency skos:closeMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:2200538 Glycogen storage disease type I skos:closeMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration +NANDO:2200539 Glycogen storage disease type III skos:closeMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:2200540 Glycogen storage disease type IV skos:closeMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration +NANDO:2200541 Glycogen storage disease type V skos:closeMatch MONDO:0009293 glycogen storage disease V semapv:ManualMappingCuration +NANDO:2200542 Glycogen storage disease type VI skos:closeMatch MONDO:0009294 glycogen storage disease VI semapv:ManualMappingCuration +NANDO:2200543 Glycogen storage disease type VII skos:closeMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration +NANDO:2200544 Glycogen storage disease type IX skos:closeMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualMappingCuration +NANDO:2200545 Glucose transporter 1 deficiency skos:closeMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualMappingCuration +NANDO:2200547 Mucopolysaccharidosis type I skos:closeMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualMappingCuration +NANDO:2200548 Mucopolysaccharidosis type II skos:closeMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualMappingCuration +NANDO:2200549 Mucopolysaccharidosis type III skos:closeMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualMappingCuration +NANDO:2200550 Mucopolysaccharidosis type IV skos:closeMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualMappingCuration +NANDO:2200551 Mucopolysaccharidosis type VI skos:closeMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:2200552 Mucopolysaccharidosis type VII skos:closeMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualMappingCuration +NANDO:2200553 Fucosidosis skos:closeMatch MONDO:0009254 fucosidosis semapv:ManualMappingCuration +NANDO:2200555 Aspartylglucosaminuria skos:closeMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualMappingCuration +NANDO:2200556 Sialidosis skos:closeMatch MONDO:0017734 sialidosis semapv:ManualMappingCuration +NANDO:2200557 Galactosialidosis skos:closeMatch MONDO:0009737 galactosialidosis semapv:ManualMappingCuration +NANDO:2200558 GM1 Gangliosidosis skos:closeMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualMappingCuration +NANDO:2200559 GM2 gangliosidosis skos:closeMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualMappingCuration +NANDO:2200560 Metachromatic leukodystrophy skos:closeMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualMappingCuration +NANDO:2200561 Niemann-Pick disease skos:closeMatch MONDO:0001982 Niemann-Pick disease semapv:ManualMappingCuration +NANDO:2200562 Gaucher disease skos:closeMatch MONDO:0018150 Gaucher disease semapv:ManualMappingCuration +NANDO:2200563 Fabry disease skos:closeMatch MONDO:0010526 Fabry disease semapv:ManualMappingCuration +NANDO:2200564 Krabbe disease skos:closeMatch MONDO:0009499 Krabbe disease semapv:ManualMappingCuration +NANDO:2200565 Farber disease skos:closeMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualMappingCuration +NANDO:2200566 Multiple sulfatase deficiency skos:closeMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration +NANDO:2200567 Mucolipidosis II skos:closeMatch MONDO:0009650 mucolipidosis type II semapv:ManualMappingCuration +NANDO:2200568 Mucolipidosis III skos:closeMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualMappingCuration +NANDO:2200569 Pompe disease skos:closeMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration +NANDO:2200570 Acid lipase deficiency skos:closeMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:2200571 Cystinosis skos:closeMatch MONDO:0016239 cystinosis semapv:ManualMappingCuration +NANDO:2200572 Free Sialic Acid Storage Disease skos:closeMatch MONDO:0019366 free sialic acid storage disease semapv:ManualMappingCuration +NANDO:2200573 Neuronal ceroid lipofuscinoses skos:closeMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2200575 Peroxisome biogenesis disorders skos:closeMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualMappingCuration +NANDO:2200576 Adrenoleukodystrophy skos:closeMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:2200577 Refsum disease skos:closeMatch MONDO:0009958 adult Refsum disease semapv:ManualMappingCuration +NANDO:2200579 Wilson disease skos:closeMatch MONDO:0010200 Wilson disease semapv:ManualMappingCuration +NANDO:2200580 Menkes disease skos:closeMatch MONDO:0010651 Menkes disease semapv:ManualMappingCuration +NANDO:2200581 Occipital horn syndrome skos:closeMatch MONDO:0010572 occipital horn syndrome semapv:ManualMappingCuration +NANDO:2200582 Aceruloplasminemia skos:closeMatch MONDO:0011426 aceruloplasminemia semapv:ManualMappingCuration +NANDO:2200583 Sulfite oxidase deficiency skos:closeMatch MONDO:0010089 isolated sulfite oxidase deficiency semapv:ManualMappingCuration +NANDO:2200584 Acrodermatitis enteropathica skos:closeMatch MONDO:0008713 acrodermatitis enteropathica semapv:ManualMappingCuration +NANDO:2200586 Lesch-Nyhan syndrome skos:closeMatch MONDO:0010298 Lesch-Nyhan syndrome semapv:ManualMappingCuration +NANDO:2200586 Lesch-Nyhan syndrome skos:closeMatch MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:ManualMappingCuration +NANDO:2200587 Adenine phosphoribosyltransferase deficiency skos:closeMatch MONDO:0013869 adenine phosphoribosyltransferase deficiency semapv:ManualMappingCuration +NANDO:2200588 Xanthinuria skos:closeMatch MONDO:0000721 xanthinuria semapv:ManualMappingCuration +NANDO:2200590 Orotic aciduria skos:closeMatch MONDO:0009797 orotic aciduria semapv:ManualMappingCuration +NANDO:2200592 Hereditary folate malabsorption skos:closeMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualMappingCuration +NANDO:2200594 Tetrahydrobiopterin deficiency skos:closeMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration +NANDO:2200595 Tyrosine hydroxylase deficiency skos:closeMatch MONDO:0100064 tyrosine hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency skos:closeMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualMappingCuration +NANDO:2200597 Dopamine beta hydroxylase deficiency skos:closeMatch MONDO:0009123 orthostatic hypotension 1 semapv:ManualMappingCuration +NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency skos:closeMatch MONDO:0013166 GABA aminotransaminase deficiency semapv:ManualMappingCuration +NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency skos:closeMatch MONDO:0010083 succinic semialdehyde dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:closeMatch MONDO:0005439 familial hypercholesterolemia semapv:ManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:closeMatch MONDO:0007750 hypercholesterolemia, familial, 1 semapv:ManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:closeMatch MONDO:0016525 familial hyperaldosteronism semapv:ManualMappingCuration +NANDO:2200604 Abetalipoproteinemia skos:closeMatch MONDO:0008692 abetalipoproteinemia semapv:ManualMappingCuration +NANDO:2200605 HDL deficiency skos:closeMatch MONDO:0017773 hypoalphalipoproteinemia semapv:ManualMappingCuration +NANDO:2200607 Ehlers-Danlos syndrome skos:closeMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:2200608 Lipoid proteinosis skos:closeMatch MONDO:0009530 lipoid proteinosis semapv:ManualMappingCuration +NANDO:2200611 Alpha-1-antitrypsin deficiency skos:closeMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration +NANDO:2200612 Megaloblastic anemia skos:closeMatch MONDO:0001700 megaloblastic anemia semapv:ManualMappingCuration +NANDO:2200614 Congenital red cell aplasia skos:closeMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualMappingCuration +NANDO:2200615 Congenital dyserythropoietic anemia skos:closeMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration +NANDO:2200616 Sideroblastic anemia skos:closeMatch MONDO:0015194 sideroblastic anemia semapv:ManualMappingCuration +NANDO:2200617 Congenital atransferrinemia skos:closeMatch MONDO:0008846 atransferrinemia semapv:ManualMappingCuration +NANDO:2200618 Cold agglutinin disease skos:closeMatch MONDO:0018922 cold agglutinin disease semapv:ManualMappingCuration +NANDO:2200619 Paroxysmal cold hemoglobinuria skos:closeMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualMappingCuration +NANDO:2200621 Paroxysmal nocturnal hemoglobinuria skos:closeMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:2200622 Hereditary spherocytosis skos:closeMatch MONDO:0019350 hereditary spherocytosis semapv:ManualMappingCuration +NANDO:2200623 Hereditary stomatocytosis skos:closeMatch MONDO:0020102 hereditary stomatocytosis semapv:ManualMappingCuration +NANDO:2200624 Sickle cell disease skos:closeMatch MONDO:0011382 sickle cell anemia semapv:ManualMappingCuration +NANDO:2200625 Unstable hemoglobin disease skos:closeMatch MONDO:0020459 unstable hemoglobin disease semapv:ManualMappingCuration +NANDO:2200626 Thalassemia skos:closeMatch MONDO:0000984 thalassemia semapv:ManualMappingCuration +NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency skos:closeMatch MONDO:0005775 G6PD deficiency semapv:ManualMappingCuration +NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:closeMatch MONDO:0009950 pyruvate kinase deficiency of red cells semapv:ManualMappingCuration +NANDO:2200630 Hereditary elliptocytosis skos:closeMatch MONDO:0017319 hereditary elliptocytosis semapv:ManualMappingCuration +NANDO:2200631 Hereditary pyropoikilocytosis skos:closeMatch MONDO:0009948 pyropoikilocytosis, hereditary semapv:ManualMappingCuration +NANDO:2200633 Stomatocytic xerocytosis skos:closeMatch MONDO:0017910 dehydrated hereditary stomatocytosis semapv:ManualMappingCuration +NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia skos:closeMatch MONDO:0008367 red cell phospholipid defect with hemolysis semapv:ManualMappingCuration +NANDO:2200635 Hemoglobin C disease skos:closeMatch MONDO:0016242 hemoglobin C disease semapv:ManualMappingCuration +NANDO:2200636 Hemolytic anemia skos:closeMatch MONDO:0003664 hemolytic anemia semapv:ManualMappingCuration +NANDO:2200637 Hypersplenism skos:closeMatch MONDO:0006795 hypersplenism semapv:ManualMappingCuration +NANDO:2200639 Disseminated intravascular coagulation skos:closeMatch MONDO:0001243 disseminated intravascular coagulation semapv:ManualMappingCuration +NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome skos:closeMatch MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome semapv:ManualMappingCuration +NANDO:2200641 Atypical hemolytic uremic syndrome skos:closeMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:2200643 Polycythemia vera skos:closeMatch MONDO:0009891 acquired polycythemia vera semapv:ManualMappingCuration +NANDO:2200644 Familial polycythemia skos:closeMatch MONDO:0001115 familial polycythemia semapv:ManualMappingCuration +NANDO:2200645 Immune thrombocytopenic purpura skos:closeMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2200647 Neonatal alloimmune thrombocytopenia skos:closeMatch MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia semapv:ManualMappingCuration +NANDO:2200648 Heparin-induced thrombocytopenia skos:closeMatch MONDO:0018048 heparin-induced thrombocytopenia semapv:ManualMappingCuration +NANDO:2200649 Thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2200651 Congenital amegakaryocytic thrombocytopenia skos:closeMatch MONDO:0011469 congenital amegakaryocytic thrombocytopenia semapv:ManualMappingCuration +NANDO:2200652 Fanconi anemia skos:closeMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration +NANDO:2200653 Cyclic thrombocytopenia skos:closeMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualMappingCuration +NANDO:2200654 May-Hegglin anomaly skos:closeMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:2200655 Essential thrombocythemia skos:closeMatch MONDO:0005029 essential thrombocythemia semapv:ManualMappingCuration +NANDO:2200656 Bernard-Soulier syndrome skos:closeMatch MONDO:0009276 Bernard-Soulier syndrome semapv:ManualMappingCuration +NANDO:2200657 Thrombasthenia skos:closeMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualMappingCuration +NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis skos:closeMatch MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:ManualMappingCuration +NANDO:2200661 Thrombocytopenia with absent radii skos:closeMatch MONDO:0010121 thrombocytopenia-absent radius syndrome semapv:ManualMappingCuration +NANDO:2200662 Familial platelet disorder with propensity to myeloid. skos:closeMatch MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 semapv:ManualMappingCuration +NANDO:2200663 Autosomal dominant thrombocytopenia 2 skos:closeMatch MONDO:0008555 thrombocytopenia 2 semapv:ManualMappingCuration +NANDO:2200664 ITGA2B/ITGB3 mutations skos:closeMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualMappingCuration +NANDO:2200665 ACTN1 mutations skos:closeMatch MONDO:0014078 platelet-type bleeding disorder 15 semapv:ManualMappingCuration +NANDO:2200667 β-1 tubulin disorders skos:closeMatch MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related semapv:ManualMappingCuration +NANDO:2200668 Platelet-type von Willebrand disease skos:closeMatch MONDO:0008332 platelet-type von Willebrand disease semapv:ManualMappingCuration +NANDO:2200669 ADP receptor deficiencies skos:closeMatch MONDO:0012354 platelet-type bleeding disorder 8 semapv:ManualMappingCuration +NANDO:2200670 Abnormalities in platelet collagen receptors skos:closeMatch MONDO:0013623 platelet-type bleeding disorder 11 semapv:ManualMappingCuration +NANDO:2200671 Scott syndrome skos:closeMatch MONDO:0009885 Scott syndrome semapv:ManualMappingCuration +NANDO:2200674 Factor V deficiency skos:closeMatch MONDO:0020586 factor V deficiency semapv:ManualMappingCuration +NANDO:2200675 Factor VII deficiency skos:closeMatch MONDO:0002244 factor VII deficiency semapv:ManualMappingCuration +NANDO:2200676 Hemophilia A skos:closeMatch MONDO:0010602 hemophilia A semapv:ManualMappingCuration +NANDO:2200677 Hemophilia B skos:closeMatch MONDO:0010604 hemophilia B semapv:ManualMappingCuration +NANDO:2200678 Factor X deficiency skos:closeMatch MONDO:0002247 factor X deficiency semapv:ManualMappingCuration +NANDO:2200679 Factor XI deficiency skos:closeMatch MONDO:0020587 factor XI deficiency semapv:ManualMappingCuration +NANDO:2200680 Factor XII deficiency skos:closeMatch MONDO:0009315 congenital factor XII deficiency semapv:ManualMappingCuration +NANDO:2200681 Factor XIII deficiency skos:closeMatch MONDO:0002241 factor XIII deficiency semapv:ManualMappingCuration +NANDO:2200681 Factor XIII deficiency skos:closeMatch MONDO:0018029 congenital factor XIII deficiency semapv:ManualMappingCuration +NANDO:2200682 Von Willebrand disease skos:closeMatch MONDO:0024574 von Willebrand disease (hereditary or acquired) semapv:ManualMappingCuration +NANDO:2200684 Congenital prekallikrein deficiency skos:closeMatch MONDO:0012901 inherited prekallikrein deficiency semapv:ManualMappingCuration +NANDO:2200684 Congenital prekallikrein deficiency skos:closeMatch MONDO:0044744 prekallikrein deficiency semapv:ManualMappingCuration +NANDO:2200685 High molecular weight kininogen deficiency skos:closeMatch MONDO:0009234 congenital high-molecular-weight kininogen deficiency semapv:ManualMappingCuration +NANDO:2200686 Combined deficiency of coagulation factors V and VIII skos:closeMatch MONDO:0018175 combined deficiency of factor V and factor VIII semapv:ManualMappingCuration +NANDO:2200687 Alpha-2-plasmin inhibitor deficiency skos:closeMatch MONDO:0009883 alpha-2-plasmin inhibitor deficiency semapv:ManualMappingCuration +NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency skos:closeMatch MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency semapv:ManualMappingCuration +NANDO:2200689 Protein C deficiency skos:closeMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration +NANDO:2200690 Protein S deficiency skos:closeMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration +NANDO:2200692 Myelofibrosis skos:closeMatch MONDO:0044903 myelofibrosis semapv:ManualMappingCuration +NANDO:2200693 Aplastic anemia skos:closeMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:2200694 X-linked severe combined immunodeficiency skos:closeMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualMappingCuration +NANDO:2200695 Reticular dysgenesis skos:closeMatch MONDO:0009973 reticular dysgenesis semapv:ManualMappingCuration +NANDO:2200696 Adenosine deaminase deficiency skos:closeMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualMappingCuration +NANDO:2200697 Omenn syndrome skos:closeMatch MONDO:0011338 Omenn syndrome semapv:ManualMappingCuration +NANDO:2200698 Purine nucleoside phosphorylase deficiency skos:closeMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualMappingCuration +NANDO:2200699 CD8 deficiency skos:closeMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualMappingCuration +NANDO:2200701 MHC class I deficiency skos:closeMatch MONDO:0011476 MHC class I deficiency semapv:ManualMappingCuration +NANDO:2200702 MHC class II deficiency skos:closeMatch MONDO:0008855 MHC class II deficiency semapv:ManualMappingCuration +NANDO:2200704 Wiskott-Aldrich syndrome skos:closeMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualMappingCuration +NANDO:2200705 Ataxia telangiectasia skos:closeMatch MONDO:0008840 ataxia telangiectasia semapv:ManualMappingCuration +NANDO:2200706 Nijmegen breakage syndrome skos:closeMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualMappingCuration +NANDO:2200707 Bloom syndrome skos:closeMatch MONDO:0008876 Bloom syndrome semapv:ManualMappingCuration +NANDO:2200708 ICF syndrome skos:closeMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualMappingCuration +NANDO:2200710 RIDDLE syndrome skos:closeMatch MONDO:0012764 RIDDLE syndrome semapv:ManualMappingCuration +NANDO:2200711 Schimke syndrome skos:closeMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:closeMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:closeMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:closeMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration +NANDO:2200713 Hyper-IgE syndrome skos:closeMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualMappingCuration +NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency skos:closeMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualMappingCuration +NANDO:2200715 Dyskeratosis congenita skos:closeMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration +NANDO:2200716 X-linked agammaglobulinemia skos:closeMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualMappingCuration +NANDO:2200717 Common variable immunodeficiency skos:closeMatch MONDO:0015517 common variable immunodeficiency semapv:ManualMappingCuration +NANDO:2200718 Hyper-IgM syndrome skos:closeMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualMappingCuration +NANDO:2200719 Isolated IgG subclass deficiency skos:closeMatch MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:ManualMappingCuration +NANDO:2200720 Selective IgA deficiency skos:closeMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualMappingCuration +NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:closeMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualMappingCuration +NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:closeMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualMappingCuration +NANDO:2200724 Chédiak-Higashi syndrome skos:closeMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration +NANDO:2200725 X-linked lymphoproliferative syndrome skos:closeMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:2200726 Autoimmune lymphoproliferative syndrome skos:closeMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:2200728 Perforin deficiency skos:closeMatch MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 semapv:ManualMappingCuration +NANDO:2200729 UNC13D/Munc13-4 deficiency skos:closeMatch MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 semapv:ManualMappingCuration +NANDO:2200730 Syntaxin 11 deficiency skos:closeMatch MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 semapv:ManualMappingCuration +NANDO:2200731 STXBP2/Munc18-2 deficiency skos:closeMatch MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 semapv:ManualMappingCuration +NANDO:2200732 Griscelli syndrome type 2 skos:closeMatch MONDO:0011872 Griscelli syndrome type 2 semapv:ManualMappingCuration +NANDO:2200733 Hermansky-Pudlak syndrome type 2 skos:closeMatch MONDO:0011997 Hermansky-Pudlak syndrome 2 semapv:ManualMappingCuration +NANDO:2200734 IL-2-inducible T-cell kinase deficiency skos:closeMatch MONDO:0013081 lymphoproliferative syndrome 1 semapv:ManualMappingCuration +NANDO:2200735 CD27 deficiency skos:closeMatch MONDO:0016536 autosomal recessive lymphoproliferative disease semapv:ManualMappingCuration +NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity skos:closeMatch MONDO:0011664 immunodeficiency due to CD25 deficiency semapv:ManualMappingCuration +NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy skos:closeMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualMappingCuration +NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency skos:closeMatch MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency semapv:ManualMappingCuration +NANDO:2200740 Caspase-8 deficiency skos:closeMatch MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B semapv:ManualMappingCuration +NANDO:2200741 Fas-associated death domain protein deficiency skos:closeMatch MONDO:0013408 FADD-related immunodeficiency semapv:ManualMappingCuration +NANDO:2200743 PKC-δ deficiency skos:closeMatch MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 semapv:ManualMappingCuration +NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation skos:closeMatch MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation semapv:ManualMappingCuration +NANDO:2200745 Severe congenital neutropenia skos:closeMatch MONDO:0018542 severe congenital neutropenia semapv:ManualMappingCuration +NANDO:2200746 Cyclic neutropenia skos:closeMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualMappingCuration +NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome skos:closeMatch MONDO:0011405 poikiloderma with neutropenia semapv:ManualMappingCuration +NANDO:2200750 Cohen syndrome skos:closeMatch MONDO:0008999 Cohen syndrome semapv:ManualMappingCuration +NANDO:2200751 Barth syndrome skos:closeMatch MONDO:0010543 Barth syndrome semapv:ManualMappingCuration +NANDO:2200752 P14 deficiency skos:closeMatch MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency semapv:ManualMappingCuration +NANDO:2200753 X linked severe congenital neutropenia skos:closeMatch MONDO:0010294 X-linked severe congenital neutropenia semapv:ManualMappingCuration +NANDO:2200754 Glycogen storage disease type 1b skos:closeMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration +NANDO:2200755 Leukocyte adhesion deficiency skos:closeMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualMappingCuration +NANDO:2200756 Shwachman-Diamond syndrome skos:closeMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualMappingCuration +NANDO:2200757 Chronic granulomatous disease skos:closeMatch MONDO:0018305 chronic granulomatous disease semapv:ManualMappingCuration +NANDO:2200758 Myeloperoxidase deficiency skos:closeMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualMappingCuration +NANDO:2200759 Mendelian susceptibility to mycobacterial disease skos:closeMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualMappingCuration +NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency skos:closeMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualMappingCuration +NANDO:2200762 IRAK4 deficiency skos:closeMatch MONDO:0011888 immunodeficiency 67 semapv:ManualMappingCuration +NANDO:2200763 MyD88 deficiency skos:closeMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualMappingCuration +NANDO:2200764 Chronic mucocutaneous candidiasis skos:closeMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualMappingCuration +NANDO:2200766 HOIL-1 deficiency skos:closeMatch MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency semapv:ManualMappingCuration +NANDO:2200767 WHIM syndrome skos:closeMatch MONDO:0008674 obsolete WHIM syndrome semapv:ManualMappingCuration +NANDO:2200768 Epidermodysplasia verruciformis skos:closeMatch MONDO:0009176 epidermodysplasia verruciformis semapv:ManualMappingCuration +NANDO:2200770 STAT2 deficiency skos:closeMatch MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:ManualMappingCuration +NANDO:2200771 MCM4 mutation skos:closeMatch MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:ManualMappingCuration +NANDO:2200772 Herpes simplex encephalitis skos:closeMatch MONDO:0012521 herpes simplex encephalitis semapv:ManualMappingCuration +NANDO:2200774 Trypanosomiasis skos:closeMatch MONDO:0000940 trypanosomiasis semapv:ManualMappingCuration +NANDO:2200775 Isolated congenital asplenia skos:closeMatch MONDO:0010066 familial isolated congenital asplenia semapv:ManualMappingCuration +NANDO:2200776 Inherited deficiency of complement system skos:closeMatch MONDO:0003832 complement deficiency semapv:ManualMappingCuration +NANDO:2200777 C1q deficiency skos:closeMatch MONDO:0013343 C1Q deficiency semapv:ManualMappingCuration +NANDO:2200779 C1s deficiency skos:closeMatch MONDO:0013419 complement component C1s deficiency semapv:ManualMappingCuration +NANDO:2200781 C2 deficiency skos:closeMatch MONDO:0009006 complement component 2 deficiency semapv:ManualMappingCuration +NANDO:2200782 C3 deficiency skos:closeMatch MONDO:0013417 complement component 3 deficiency semapv:ManualMappingCuration +NANDO:2200783 C5 deficiency skos:closeMatch MONDO:0012295 complement component 5 deficiency semapv:ManualMappingCuration +NANDO:2200784 C6 deficiency skos:closeMatch MONDO:0012908 complement component 6 deficiency semapv:ManualMappingCuration +NANDO:2200785 C7 deficiency skos:closeMatch MONDO:0012412 complement component 7 deficiency semapv:ManualMappingCuration +NANDO:2200787 C9 deficiency skos:closeMatch MONDO:0013445 complement component 9 deficiency semapv:ManualMappingCuration +NANDO:2200789 Properdin deficiency skos:closeMatch MONDO:0010713 properdin deficiency, X-linked semapv:ManualMappingCuration +NANDO:2200791 Factor H deficiency skos:closeMatch MONDO:0012350 complement factor H deficiency semapv:ManualMappingCuration +NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome skos:closeMatch MONDO:0017398 3MC syndrome semapv:ManualMappingCuration +NANDO:2200795 Hereditary angioedema skos:closeMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualMappingCuration +NANDO:2200795 Hereditary angioedema skos:closeMatch MONDO:0019623 hereditary angioedema semapv:ManualMappingCuration +NANDO:2200797 Factor B deficiency skos:closeMatch MONDO:0014255 complement factor b deficiency semapv:ManualMappingCuration +NANDO:2200801 CD21 deficiency skos:closeMatch MONDO:0013862 immunodeficiency, common variable, 7 semapv:ManualMappingCuration +NANDO:2200803 CD46 deficiency skos:closeMatch MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly semapv:ManualMappingCuration +NANDO:2200804 Primary CD59 deficiency skos:closeMatch MONDO:0012858 primary CD59 deficiency semapv:ManualMappingCuration +NANDO:2200805 Hyper eosinophilic syndrome skos:closeMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualMappingCuration +NANDO:2200806 Hypereosinophilic syndrome skos:closeMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualMappingCuration +NANDO:2200807 Eosinophilic gastrointestinal disorders skos:closeMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualMappingCuration +NANDO:2200808 Chronic active EB virus infection skos:closeMatch MONDO:0009194 immunodeficiency 32B semapv:ManualMappingCuration +NANDO:2200809 Acquired immune deficiency syndrome skos:closeMatch MONDO:0012268 AIDS semapv:ManualMappingCuration +NANDO:2200810 HIV infection skos:closeMatch MONDO:0005109 HIV infectious disease semapv:ManualMappingCuration +NANDO:2200812 Chronic graft-versus-host disease skos:closeMatch MONDO:0020547 chronic graft versus host disease semapv:ManualMappingCuration +NANDO:2200813 Meningoencephalocele skos:closeMatch MONDO:0017079 meningoencephalocele semapv:ManualMappingCuration +NANDO:2200814 Myelomeningocele skos:closeMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration +NANDO:2200814 Myelomeningocele skos:closeMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration +NANDO:2200815 Spinal lipoma skos:closeMatch MONDO:0001790 spinal cord lipoma semapv:ManualMappingCuration +NANDO:2200816 Sacrococcygeal teratoma skos:closeMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration +NANDO:2200817 Lissencephaly skos:closeMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualMappingCuration +NANDO:2200818 Schizencephaly skos:closeMatch MONDO:0010011 schizencephaly semapv:ManualMappingCuration +NANDO:2200819 Holoprosencephaly skos:closeMatch MONDO:0016296 holoprosencephaly semapv:ManualMappingCuration +NANDO:2200820 Septo-optic dysplasia skos:closeMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration +NANDO:2200821 Dandy-Walker syndrome skos:closeMatch MONDO:0009072 Dandy-Walker syndrome semapv:ManualMappingCuration +NANDO:2200822 Congenital hydrocephalus skos:closeMatch MONDO:0016349 congenital hydrocephalus semapv:ManualMappingCuration +NANDO:2200823 Megalencephaly-capillary malformation syndrome skos:closeMatch MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:ManualMappingCuration +NANDO:2200824 Joubert syndrome related disorders skos:closeMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration +NANDO:2200825 Rett syndrome skos:closeMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:2200826 Tuberous sclerosis complex skos:closeMatch MONDO:0001734 tuberous sclerosis semapv:ManualMappingCuration +NANDO:2200826 Tuberous sclerosis complex skos:closeMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualMappingCuration +NANDO:2200827 Neurocutaneous melanosis skos:closeMatch MONDO:0009578 neurocutaneous melanocytosis semapv:ManualMappingCuration +NANDO:2200828 Gorlin syndrome skos:closeMatch MONDO:0007187 nevoid basal cell carcinoma syndrome semapv:ManualMappingCuration +NANDO:2200829 von Hippel-Lindau disease skos:closeMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualMappingCuration +NANDO:2200830 Sturge-Weber syndrome skos:closeMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualMappingCuration +NANDO:2200831 Werner syndrome skos:closeMatch MONDO:0010196 Werner syndrome semapv:ManualMappingCuration +NANDO:2200832 Cockayne syndrome skos:closeMatch MONDO:0016006 Cockayne syndrome semapv:ManualMappingCuration +NANDO:2200833 Hutchinson-Gilford syndrome skos:closeMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualMappingCuration +NANDO:2200834 Canavan disease skos:closeMatch MONDO:0010079 Canavan disease semapv:ManualMappingCuration +NANDO:2200835 Alexander disease skos:closeMatch MONDO:0008752 Alexander disease semapv:ManualMappingCuration +NANDO:2200836 Congenital hypomyelinating leukodystrophy skos:closeMatch MONDO:0019046 leukodystrophy semapv:ManualMappingCuration +NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts skos:closeMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualMappingCuration +NANDO:2200838 Vanishing white matter disease skos:closeMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualMappingCuration +NANDO:2200839 ATR-X syndrome skos:closeMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration +NANDO:2200840 Fragile X syndrome skos:closeMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration +NANDO:2200842 Cerebral creatine deficiency syndrome skos:closeMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration +NANDO:2200843 Non-syndromic craniosynostosis skos:closeMatch MONDO:0015337 isolated craniosynostosis semapv:ManualMappingCuration +NANDO:2200844 Apert syndrome skos:closeMatch MONDO:0007041 Apert syndrome semapv:ManualMappingCuration +NANDO:2200845 Crouzon disease skos:closeMatch MONDO:0007405 Crouzon syndrome semapv:ManualMappingCuration +NANDO:2200847 Carpenter syndrome skos:closeMatch MONDO:0019012 Carpenter syndrome semapv:ManualMappingCuration +NANDO:2200848 Saethre-Chotzen syndrome skos:closeMatch MONDO:0007042 Saethre-Chotzen syndrome semapv:ManualMappingCuration +NANDO:2200850 Moyamoya disease skos:closeMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration +NANDO:2200851 Cerebral arteriovenous malformation skos:closeMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualMappingCuration +NANDO:2200852 Cavernous angioma of the brain and spinal cord skos:closeMatch MONDO:0002327 intracranial cavernous angioma semapv:ManualMappingCuration +NANDO:2200853 Spinal muscular atrophy skos:closeMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration +NANDO:2200854 Congenital insensitivity to pain with anhidrosis skos:closeMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualMappingCuration +NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:closeMatch MONDO:0015358 hereditary motor and sensory neuropathy semapv:ManualMappingCuration +NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:closeMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualMappingCuration +NANDO:2200856 Duchenne muscular dystrophy skos:closeMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualMappingCuration +NANDO:2200857 Emery-Dreifuss muscular dystrophy skos:closeMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualMappingCuration +NANDO:2200858 Limb-girdle muscular dystrophy skos:closeMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualMappingCuration +NANDO:2200859 Facioscapulohumeral muscular dystrophy skos:closeMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualMappingCuration +NANDO:2200860 Fukuyama type congenital muscular dystrophy skos:closeMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualMappingCuration +NANDO:2200861 Merosin-deficient congenital muscular dystrophy skos:closeMatch MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A semapv:ManualMappingCuration +NANDO:2200862 Ullrich congenital muscular dystrophy skos:closeMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualMappingCuration +NANDO:2200864 Myotonic dystrophy skos:closeMatch MONDO:0016107 myotonic dystrophy semapv:ManualMappingCuration +NANDO:2200865 Becker muscular dystrophy skos:closeMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualMappingCuration +NANDO:2200866 LMNA-related congenital muscular dystrophy skos:closeMatch MONDO:0013178 congenital muscular dystrophy due to LMNA mutation semapv:ManualMappingCuration +NANDO:2200867 Myotubular myopathy skos:closeMatch MONDO:0002921 congenital structural myopathy semapv:ManualMappingCuration +NANDO:2200867 Myotubular myopathy skos:closeMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration +NANDO:2200868 Congenital fiber-type disproportion myopathy skos:closeMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualMappingCuration +NANDO:2200869 Nemaline myopathy skos:closeMatch MONDO:0018958 nemaline myopathy semapv:ManualMappingCuration +NANDO:2200870 Central core disease skos:closeMatch MONDO:0007294 central core myopathy semapv:ManualMappingCuration +NANDO:2200871 Multicore disease skos:closeMatch MONDO:0018948 multiminicore myopathy semapv:ManualMappingCuration +NANDO:2200875 Reducing body myopathy skos:closeMatch MONDO:0019948 reducing body myopathy semapv:ManualMappingCuration +NANDO:2200876 Schwartz-Jampel syndrome skos:closeMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration +NANDO:2200877 Severe myoclonic epilepsy in infancy skos:closeMatch MONDO:0100135 Dravet syndrome semapv:ManualMappingCuration +NANDO:2200878 West syndrome skos:closeMatch MONDO:0018097 West syndrome semapv:ManualMappingCuration +NANDO:2200879 Lennox-Gastaut syndrome skos:closeMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualMappingCuration +NANDO:2200880 Unverricht-Lundborg disease skos:closeMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualMappingCuration +NANDO:2200881 Lafora disease skos:closeMatch MONDO:0009697 Lafora disease semapv:ManualMappingCuration +NANDO:2200882 Spinocerebellar degeneration skos:closeMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration +NANDO:2200883 Alternating hemiplegia of childhood skos:closeMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:2200884 Dystonia musculorum deformans skos:closeMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration +NANDO:2200885 Segawa syndrome skos:closeMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualMappingCuration +NANDO:2200886 Pantothenate kinase-associated neurodegeneration skos:closeMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:2200887 Infantile neuroaxonal dystrophy skos:closeMatch MONDO:0009739 obsolete infantile neuroaxonal dystrophy semapv:ManualMappingCuration +NANDO:2200888 Infantile bilateral striatal necrosis skos:closeMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualMappingCuration +NANDO:2200889 Congenital herpes simplex virus infection skos:closeMatch MONDO:0017381 congenital herpes simplex virus infection semapv:ManualMappingCuration +NANDO:2200890 Congenital rubella syndrome skos:closeMatch MONDO:0005713 obsolete MONDO:0005713 semapv:ManualMappingCuration +NANDO:2200890 Congenital rubella syndrome skos:closeMatch MONDO:0017361 congenital rubella syndrome semapv:ManualMappingCuration +NANDO:2200891 Congenital cytomegalovirus infection skos:closeMatch MONDO:0017409 fetal cytomegalovirus syndrome semapv:ManualMappingCuration +NANDO:2200892 Congenital toxoplasmosis skos:closeMatch MONDO:0005715 congenital toxoplasmosis semapv:ManualMappingCuration +NANDO:2200893 Aicardi-Goutières Syndrome skos:closeMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration +NANDO:2200894 Aicardi-Goutieres syndrome 2 skos:closeMatch MONDO:0012429 Aicardi-Goutieres syndrome 2 semapv:ManualMappingCuration +NANDO:2200895 Aicardi-Goutieres syndrome 3 skos:closeMatch MONDO:0012471 Aicardi-Goutieres syndrome 3 semapv:ManualMappingCuration +NANDO:2200897 Aicardi-Goutieres syndrome 5 skos:closeMatch MONDO:0013059 Aicardi-Goutieres syndrome 5 semapv:ManualMappingCuration +NANDO:2200898 Aicardi-Goutieres syndrome 6 skos:closeMatch MONDO:0014007 Aicardi-Goutieres syndrome 6 semapv:ManualMappingCuration +NANDO:2200899 Subacute sclerosing panencephalitis skos:closeMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:2200900 Rasmussen's encephalitis skos:closeMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration +NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration +NANDO:2200902 Autoimmune encephalitis skos:closeMatch MONDO:0020640 autoimmune encephalitis semapv:ManualMappingCuration +NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures skos:closeMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration +NANDO:2200904 Multiple sclerosis skos:closeMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration +NANDO:2200906 Myasthenia gravis skos:closeMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration +NANDO:2200907 Lactose intolerance skos:closeMatch MONDO:0009116 obsolete lactose intolerance semapv:ManualMappingCuration +NANDO:2200908 Congenital sucrase-isomaltase deficiency skos:closeMatch MONDO:0009114 congenital sucrase-isomaltase deficiency semapv:ManualMappingCuration +NANDO:2200909 Glucose-galactose malabsorption skos:closeMatch MONDO:0011731 glucose-galactose malabsorption semapv:ManualMappingCuration +NANDO:2200910 Enterokinase deficiency skos:closeMatch MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency semapv:ManualMappingCuration +NANDO:2200911 Amylase deficiency skos:closeMatch MONDO:0015169 chronic diarrhea due to glucoamylase deficiency semapv:ManualMappingCuration +NANDO:2200912 Lipase deficiency skos:closeMatch MONDO:0013700 pancreatic triacylglycerol lipase deficiency semapv:ManualMappingCuration +NANDO:2200913 Microvillus inclusion disease skos:closeMatch MONDO:0009635 microvillus inclusion disease semapv:ManualMappingCuration +NANDO:2200914 Intestinal lymphangiectasia skos:closeMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualMappingCuration +NANDO:2200915 Familial adenomatous polyposis skos:closeMatch MONDO:0021055 classic familial adenomatous polyposis semapv:ManualMappingCuration +NANDO:2200916 Juvenile polyposis skos:closeMatch MONDO:0017380 juvenile polyposis syndrome semapv:ManualMappingCuration +NANDO:2200917 Peutz-Jeghers syndrome skos:closeMatch MONDO:0008280 Peutz-Jeghers syndrome semapv:ManualMappingCuration +NANDO:2200918 Cowden syndrome skos:closeMatch MONDO:0016063 Cowden disease semapv:ManualMappingCuration +NANDO:2200919 Cyclic vomiting syndrome skos:closeMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualMappingCuration +NANDO:2200920 Ulcerative colitis skos:closeMatch MONDO:0005101 ulcerative colitis semapv:ManualMappingCuration +NANDO:2200921 Crohn's disease skos:closeMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration +NANDO:2200923 Autoimmune enteropathy skos:closeMatch MONDO:0019787 autoimmune enteropathy semapv:ManualMappingCuration +NANDO:2200924 IPEX syndrome skos:closeMatch MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:ManualMappingCuration +NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine skos:closeMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualMappingCuration +NANDO:2200930 biliary atresia skos:closeMatch MONDO:0008867 biliary atresia semapv:ManualMappingCuration +NANDO:2200930 biliary atresia skos:closeMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualMappingCuration +NANDO:2200931 Alagille syndrome skos:closeMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration +NANDO:2200933 Progressive familial intrahepatic cholestasis skos:closeMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualMappingCuration +NANDO:2200934 Caroli disease skos:closeMatch MONDO:0010913 Caroli disease semapv:ManualMappingCuration +NANDO:2200934 Caroli disease skos:closeMatch MONDO:0018808 Caroli syndrome semapv:ManualMappingCuration +NANDO:2200936 Congenital hepatic fibrosis skos:closeMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualMappingCuration +NANDO:2200937 Liver cirrhosis skos:closeMatch MONDO:0005155 cirrhosis of liver semapv:ManualMappingCuration +NANDO:2200941 Crigler-Najjar syndrome skos:closeMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualMappingCuration +NANDO:2200942 Hereditary pancreatitis skos:closeMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualMappingCuration +NANDO:2200943 Autoimmune pancreatitis skos:closeMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualMappingCuration +NANDO:2200944 Short bowel syndrome skos:closeMatch MONDO:0015183 short bowel syndrome semapv:ManualMappingCuration +NANDO:2200945 Hirschsprung disease skos:closeMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration +NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction skos:closeMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualMappingCuration +NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:closeMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualMappingCuration +NANDO:2200948 Congenital Isolated Hypoganglionosis skos:closeMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration +NANDO:2200950 Persistent cloaca skos:closeMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:2200951 Cloacal exstrophy skos:closeMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:2200952 Coffin-Lowry syndrome skos:closeMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualMappingCuration +NANDO:2200953 Sotos syndrome skos:closeMatch MONDO:0019349 Sotos syndrome semapv:ManualMappingCuration +NANDO:2200954 Smith-Magenis syndrome skos:closeMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualMappingCuration +NANDO:2200955 Rubinstein-Taybi syndrome skos:closeMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualMappingCuration +NANDO:2200956 Kabuki syndrome skos:closeMatch MONDO:0016512 Kabuki syndrome semapv:ManualMappingCuration +NANDO:2200957 Weaver syndrome skos:closeMatch MONDO:0010193 Weaver syndrome semapv:ManualMappingCuration +NANDO:2200958 Cornelia de Lange syndrome skos:closeMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualMappingCuration +NANDO:2200959 Beckwith-Wiedemann syndrome skos:closeMatch MONDO:0007534 Beckwith-Wiedemann syndrome semapv:ManualMappingCuration +NANDO:2200960 Angelman syndrome skos:closeMatch MONDO:0007113 Angelman syndrome semapv:ManualMappingCuration +NANDO:2200961 5p- syndrome skos:closeMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualMappingCuration +NANDO:2200962 4p- Syndrome skos:closeMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualMappingCuration +NANDO:2200963 Trisomy 18 skos:closeMatch MONDO:0018071 trisomy 18 semapv:ManualMappingCuration +NANDO:2200964 Trisomy 13 skos:closeMatch MONDO:0018068 trisomy 13 semapv:ManualMappingCuration +NANDO:2200965 Down syndrome skos:closeMatch MONDO:0008608 Down syndrome semapv:ManualMappingCuration +NANDO:2200967 CFC Syndrome skos:closeMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualMappingCuration +NANDO:2200968 Marfan syndrome skos:closeMatch MONDO:0007947 Marfan syndrome semapv:ManualMappingCuration +NANDO:2200969 Loeys-Dietz syndrome skos:closeMatch MONDO:0018954 Loeys-Dietz syndrome semapv:ManualMappingCuration +NANDO:2200970 Camurati-Engelmann disease skos:closeMatch MONDO:0007542 Camurati-Engelmann disease semapv:ManualMappingCuration +NANDO:2200971 Costello syndrome skos:closeMatch MONDO:0009026 Costello syndrome semapv:ManualMappingCuration +NANDO:2200972 CHARGE syndrome skos:closeMatch MONDO:0008965 CHARGE syndrome semapv:ManualMappingCuration +NANDO:2200973 Hallermann-Streiff syndrome skos:closeMatch MONDO:0009318 Hallermann-Streiff syndrome semapv:ManualMappingCuration +NANDO:2200974 Incontinentia pigmenti skos:closeMatch MONDO:0010631 incontinentia pigmenti semapv:ManualMappingCuration +NANDO:2200975 Antley-Bixler syndrome skos:closeMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualMappingCuration +NANDO:2200976 Pfeiffer syndrome skos:closeMatch MONDO:0005810 infectious mononucleosis semapv:ManualMappingCuration +NANDO:2200976 Pfeiffer syndrome skos:closeMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualMappingCuration +NANDO:2200977 Coffin-Siris syndrome skos:closeMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualMappingCuration +NANDO:2200978 Simpson-Golabi-Behmel syndrome skos:closeMatch MONDO:0010731 Simpson-Golabi-Behmel syndrome semapv:ManualMappingCuration +NANDO:2200979 Smith-Lemli-Opitz syndrome skos:closeMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualMappingCuration +NANDO:2200980 Moebius syndrome skos:closeMatch MONDO:0008006 Mobius syndrome semapv:ManualMappingCuration +NANDO:2200981 Mowat-Wilson syndrome skos:closeMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualMappingCuration +NANDO:2200982 Young-Simpson syndrome skos:closeMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualMappingCuration +NANDO:2200983 VATER syndrome skos:closeMatch MONDO:0008642 VACTERL/vater association semapv:ManualMappingCuration +NANDO:2200984 MECP2 duplication syndrome skos:closeMatch MONDO:0010283 syndromic X-linked intellectual disability Lubs type semapv:ManualMappingCuration +NANDO:2200985 Takenouchi-Kosaki syndrome skos:closeMatch MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:ManualMappingCuration +NANDO:2200986 Oculocutaneous albinism skos:closeMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration +NANDO:2200987 Keratinopathic ichthyosis skos:closeMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualMappingCuration +NANDO:2200988 Autosomal dominant epidermolytic ichthyosis skos:closeMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:2200989 Autosomal recessive epidermolytic ichthyosis skos:closeMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:2200990 Superficial epidermolytic ichthyosis skos:closeMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:2200991 Autosomal recessive congenital ichthyosis skos:closeMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualMappingCuration +NANDO:2200992 Harlequin ichthyosis skos:closeMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualMappingCuration +NANDO:2200993 Netherton syndrome skos:closeMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration +NANDO:2200994 Sjögren-Larsson syndrome skos:closeMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualMappingCuration +NANDO:2200996 Keratitis-ichthyosis-deafness syndrome skos:closeMatch MONDO:0018781 KID syndrome semapv:ManualMappingCuration +NANDO:2200997 Dorfman-Chanarin syndrome skos:closeMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration +NANDO:2200997 Dorfman-Chanarin syndrome skos:closeMatch MONDO:0015611 neutral lipid storage disease semapv:ManualMappingCuration +NANDO:2200998 CHILD syndrome skos:closeMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration +NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome skos:closeMatch MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome semapv:ManualMappingCuration +NANDO:2201000 Epidermolysis bullosa skos:closeMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2201001 Pustular psoriasis skos:closeMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration +NANDO:2201002 Xeroderma pigmentosum skos:closeMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration +NANDO:2201003 von Recklinghausen's disease skos:closeMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:2201003 von Recklinghausen's disease skos:closeMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:2201004 Pachydermoperiostosis skos:closeMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration +NANDO:2201004 Pachydermoperiostosis skos:closeMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration +NANDO:2201005 Anhidrotic ectodermal dysplasia skos:closeMatch MONDO:0016535 hypohidrotic ectodermal dysplasia semapv:ManualMappingCuration +NANDO:2201006 Stevens-Johnson syndrome skos:closeMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration +NANDO:2201007 Toxic epidermal necrolysis skos:closeMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualMappingCuration +NANDO:2201008 Thoracic insufficiency syndrome skos:closeMatch MONDO:0015929 thoracic malformation semapv:ManualMappingCuration +NANDO:2201009 Achondroplasia skos:closeMatch MONDO:0007037 Achondroplasia semapv:ManualMappingCuration +NANDO:2201010 Hypochondroplasia skos:closeMatch MONDO:0007793 hypochondroplasia semapv:ManualMappingCuration +NANDO:2201011 Osteogenesis imperfecta skos:closeMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualMappingCuration +NANDO:2201012 Hypophosphatasia skos:closeMatch MONDO:0018570 hypophosphatasia semapv:ManualMappingCuration +NANDO:2201013 Osteopetrosis skos:closeMatch MONDO:0017198 osteopetrosis semapv:ManualMappingCuration +NANDO:2201014 Multiple cartilaginous exostosis skos:closeMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration +NANDO:2201015 Enchondromatosis skos:closeMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration +NANDO:2201015 Enchondromatosis skos:closeMatch MONDO:0008145 Ollier disease semapv:ManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:closeMatch MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:ManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:closeMatch MONDO:0016068 fibrochondrogenesis semapv:ManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:closeMatch MONDO:0022800 type 2 collagenopathy semapv:ManualMappingCuration +NANDO:2201017 Chondrodysplasia punctata skos:closeMatch MONDO:0019701 chondrodysplasia punctata semapv:ManualMappingCuration +NANDO:2201018 Pseudoachondroplasia skos:closeMatch MONDO:0008322 pseudoachondroplasia semapv:ManualMappingCuration +NANDO:2201019 Larsen syndrome skos:closeMatch MONDO:0007875 Larsen syndrome semapv:ManualMappingCuration +NANDO:2201020 Fibrodysplasia ossificans progressiva skos:closeMatch MONDO:0003964 myositis ossificans semapv:ManualMappingCuration +NANDO:2201020 Fibrodysplasia ossificans progressiva skos:closeMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualMappingCuration +NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders skos:closeMatch MONDO:0018240 TRPV4-related bone disorder semapv:ManualMappingCuration +NANDO:2201022 Osteosclerotic diseases skos:closeMatch MONDO:0002933 osteosclerosis semapv:ManualMappingCuration +NANDO:2201023 Pycnodysostosis skos:closeMatch MONDO:0009940 pycnodysostosis semapv:ManualMappingCuration +NANDO:2201024 Osteopoikilosis skos:closeMatch MONDO:0001414 osteopoikilosis semapv:ManualMappingCuration +NANDO:2201026 Beals syndrome skos:closeMatch MONDO:0007363 congenital contractural arachnodactyly semapv:ManualMappingCuration +NANDO:2201027 Blue rubber bleb nevus syndrome skos:closeMatch MONDO:0007203 blue rubber bleb nevus semapv:ManualMappingCuration +NANDO:2201030 Klippel-Trenaunay-Weber syndrome skos:closeMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualMappingCuration +NANDO:2201031 Primary lymphedema skos:closeMatch MONDO:0019175 primary lymphedema semapv:ManualMappingCuration +NANDO:2201032 Lymphangioma skos:closeMatch MONDO:0002013 lymphangioma semapv:ManualMappingCuration +NANDO:2201033 Lymphangiomatosis skos:closeMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualMappingCuration +NANDO:2201034 Hereditary hemorrhagic telangiectasia skos:closeMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration +NANDO:2201035 Kasabach-Merritt syndrome skos:closeMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualMappingCuration +NANDO:2201038 Bilateral retinoblastoma skos:closeMatch MONDO:0003075 bilateral retinoblastoma semapv:ManualMappingCuration +NANDO:2201040 Bronchomalacia skos:closeMatch MONDO:0008888 Williams-Campbell syndrome semapv:ManualMappingCuration +NANDO:2201042 Hypertrophic obstructive cardiomyopathy skos:closeMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:2201046 Idiopathic pulmonary arterial hypertension skos:closeMatch MONDO:0017147 idiopathic pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2201047 Familial pulmonary arterial hypertension skos:closeMatch MONDO:0017148 heritable pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2201048 Secondary pulmonary arterial hypertension skos:closeMatch MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease semapv:ManualMappingCuration +NANDO:2201050 Familial central diabetes insipidus skos:closeMatch MONDO:0007450 neurohypophyseal diabetes insipidus semapv:ManualMappingCuration +NANDO:2201052 Multiple endocrine neoplasia type 2A skos:closeMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualMappingCuration +NANDO:2201053 Multiple endocrine neoplasia type 2B skos:closeMatch MONDO:0008082 multiple endocrine neoplasia type 2B semapv:ManualMappingCuration +NANDO:2201054 Medullary thyroid carcinoma skos:closeMatch MONDO:0015277 medullary thyroid gland carcinoma semapv:ManualMappingCuration +NANDO:2201055 Systemic juvenile idiopathic arthritis skos:closeMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201056 Oligoarticular juvenile idiopathic arthritis skos:closeMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis skos:closeMatch MONDO:0043152 negative rheumatoid factor polyarthritis semapv:ManualMappingCuration +NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis skos:closeMatch MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201059 Psoriatic juvenile idiopathic arthritis skos:closeMatch MONDO:0011849 psoriatic arthritis semapv:ManualMappingCuration +NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis skos:closeMatch MONDO:0019607 unspecified juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome skos:closeMatch MONDO:0011776 CINCA syndrome semapv:ManualMappingCuration +NANDO:2201067 Muckle-Wells syndrome skos:closeMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualMappingCuration +NANDO:2201068 familial cold autoinflammatory syndrome skos:closeMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2201069 Maturity-onset diabetes of the young type 1 skos:closeMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualMappingCuration +NANDO:2201070 Maturity-onset diabetes of the young type 2 skos:closeMatch MONDO:0007453 maturity-onset diabetes of the young type 2 semapv:ManualMappingCuration +NANDO:2201071 Maturity-onset diabetes of the young type 3 skos:closeMatch MONDO:0010894 maturity-onset diabetes of the young type 3 semapv:ManualMappingCuration +NANDO:2201072 Maturity-onset diabetes of the young type 4 skos:closeMatch MONDO:0011667 maturity-onset diabetes of the young type 4 semapv:ManualMappingCuration +NANDO:2201073 Maturity-onset diabetes of the young type 5 skos:closeMatch MONDO:0007669 renal cysts and diabetes syndrome semapv:ManualMappingCuration +NANDO:2201075 Phenylalanine hydroxylase deficiency skos:closeMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:2201076 BH4 deficiency skos:closeMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration +NANDO:2201077 BH4-responsive hyperphenylalaninemia skos:closeMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualMappingCuration +NANDO:2201078 Classic form maple syrup urine disease skos:closeMatch MONDO:0017051 classic maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201079 Intermediate maple syrup urine disease skos:closeMatch MONDO:0017052 intermediate maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201080 Intermittent maple syrup urine disease skos:closeMatch MONDO:0017053 intermittent maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201081 Thiamine-responsive maple syrup urine disease skos:closeMatch MONDO:0017054 thiamine-responsive maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency skos:closeMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration +NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency skos:closeMatch MONDO:0016600 acute neonatal citrullinemia type I semapv:ManualMappingCuration +NANDO:2201095 Late-onset argininosuccinate synthetase deficiency skos:closeMatch MONDO:0016601 adult-onset citrullinemia type I semapv:ManualMappingCuration +NANDO:2201105 Methylmalonic acidemia cblA type skos:closeMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualMappingCuration +NANDO:2201106 Methylmalonic acidemia cblB type skos:closeMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualMappingCuration +NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type skos:closeMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualMappingCuration +NANDO:2201108 Methylmalonic acidemia CblD type skos:closeMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualMappingCuration +NANDO:2201109 Methylcobalamin deficiency cblE type skos:closeMatch MONDO:0009354 methylcobalamin deficiency type cblE semapv:ManualMappingCuration +NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type skos:closeMatch MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF semapv:ManualMappingCuration +NANDO:2201111 Methylcobalamin deficiency cblG type skos:closeMatch MONDO:0009609 methylcobalamin deficiency type cblG semapv:ManualMappingCuration +NANDO:2201111 Methylcobalamin deficiency cblG type skos:closeMatch MONDO:0021915 arakawa syndrome 2 semapv:ManualMappingCuration +NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia skos:closeMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualMappingCuration +NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency skos:closeMatch MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form semapv:ManualMappingCuration +NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency skos:closeMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency skos:closeMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency skos:closeMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2201147 Presymptomatic trifunctional protein deficiency skos:closeMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration +NANDO:2201151 Glycogen storage disease type 0a skos:closeMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:2201152 Glycogen storage disease type 0b skos:closeMatch MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:2201153 Glycogen storage disease type 1a skos:closeMatch MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA semapv:ManualMappingCuration +NANDO:2201154 Glycogen storage disease type 1b skos:closeMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration +NANDO:2201159 Glycogen storage disease type IV, hepatic form skos:closeMatch MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:ManualMappingCuration +NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form skos:closeMatch MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:ManualMappingCuration +NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form skos:closeMatch MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:ManualMappingCuration +NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form skos:closeMatch MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:ManualMappingCuration +NANDO:2201163 Glycogen storage disease type IV, adult form skos:closeMatch MONDO:0009897 adult polyglucosan body disease semapv:ManualMappingCuration +NANDO:2201164 Glycogen storage disease type IXa skos:closeMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualMappingCuration +NANDO:2201165 Glycogen storage disease type IXb skos:closeMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualMappingCuration +NANDO:2201166 Glycogen storage disease type IXc skos:closeMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualMappingCuration +NANDO:2201167 Glycogen storage disease type IXd skos:closeMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualMappingCuration +NANDO:2201168 Hurler Disease skos:closeMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualMappingCuration +NANDO:2201168 Hurler Disease skos:closeMatch MONDO:0011758 Hurler syndrome semapv:ManualMappingCuration +NANDO:2201169 Scheie disease skos:closeMatch MONDO:0011760 Scheie syndrome semapv:ManualMappingCuration +NANDO:2201170 Hurler-Scheie disease skos:closeMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualMappingCuration +NANDO:2201171 Mucopolysaccharidosis type II, attenuated form skos:closeMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration +NANDO:2201172 Mucopolysaccharidosis type II, intermediate form skos:closeMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration +NANDO:2201173 Mucopolysaccharidosis type II, severe form skos:closeMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualMappingCuration +NANDO:2201174 Mucopolysaccharidosis type III A skos:closeMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualMappingCuration +NANDO:2201175 Mucopolysaccharidosis type III B skos:closeMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualMappingCuration +NANDO:2201176 Mucopolysaccharidosis type III C skos:closeMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualMappingCuration +NANDO:2201177 Mucopolysaccharidosis type III D skos:closeMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualMappingCuration +NANDO:2201178 Mucopolysaccharidosis type IV A skos:closeMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualMappingCuration +NANDO:2201179 Mucopolysaccharidosis type IV B skos:closeMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualMappingCuration +NANDO:2201188 Alpha-mannosidosis, infantile form skos:closeMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualMappingCuration +NANDO:2201188 Alpha-mannosidosis, infantile form skos:closeMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualMappingCuration +NANDO:2201189 Alpha-mannosidosis, adult form skos:closeMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualMappingCuration +NANDO:2201190 Beta-mannosidosis skos:closeMatch MONDO:0009562 beta-mannosidosis semapv:ManualMappingCuration +NANDO:2201191 Sialidosis type 1 skos:closeMatch MONDO:0019346 sialidosis type 1 semapv:ManualMappingCuration +NANDO:2201192 Sialidosis type 2 skos:closeMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:2201193 Galactosialidosis, early infantile form skos:closeMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:2201196 GM1 gangliosidosis, infantile form skos:closeMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualMappingCuration +NANDO:2201197 GM1 gangliosidosis, juvenile form skos:closeMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualMappingCuration +NANDO:2201198 GM1 gangliosidosis, adult form skos:closeMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualMappingCuration +NANDO:2201199 Tay-Sachs disease skos:closeMatch MONDO:0010100 Tay-Sachs disease semapv:ManualMappingCuration +NANDO:2201200 Sandhoff disease skos:closeMatch MONDO:0010006 Sandhoff disease semapv:ManualMappingCuration +NANDO:2201201 GM2 gangliosidosis AB variant skos:closeMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualMappingCuration +NANDO:2201202 Metachromatic leukodystrophy, late infantile form skos:closeMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualMappingCuration +NANDO:2201203 Metachromatic leukodystrophy, juvenile form skos:closeMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualMappingCuration +NANDO:2201204 Metachromatic leukodystrophy, adult form skos:closeMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualMappingCuration +NANDO:2201205 Saposin B deficiency skos:closeMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualMappingCuration +NANDO:2201206 Niemann-Pick disease type A skos:closeMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualMappingCuration +NANDO:2201207 Niemann-Pick disease type B skos:closeMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualMappingCuration +NANDO:2201209 Adult-onset Niemann-Pick disease type C skos:closeMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualMappingCuration +NANDO:2201210 Gaucher disease type 1 skos:closeMatch MONDO:0009265 Gaucher disease type I semapv:ManualMappingCuration +NANDO:2201211 Gaucher disease type 2 skos:closeMatch MONDO:0009266 Gaucher disease type II semapv:ManualMappingCuration +NANDO:2201212 Gaucher disease type 3 skos:closeMatch MONDO:0009267 Gaucher disease type III semapv:ManualMappingCuration +NANDO:2201216 Infantile Krabbe disease skos:closeMatch MONDO:0016089 infantile Krabbe disease semapv:ManualMappingCuration +NANDO:2201219 Adult Krabbe disease skos:closeMatch MONDO:0016091 adult Krabbe disease semapv:ManualMappingCuration +NANDO:2201229 Classic infantile Pompe disease skos:closeMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualMappingCuration +NANDO:2201232 Wolman disease skos:closeMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:2201233 Cholesterol ester storage disease skos:closeMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualMappingCuration +NANDO:2201234 Nephropathic cystinosis skos:closeMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualMappingCuration +NANDO:2201234 Nephropathic cystinosis skos:closeMatch MONDO:0100151 nephropathic cystinosis semapv:ManualMappingCuration +NANDO:2201235 Intermediate cystinosis skos:closeMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualMappingCuration +NANDO:2201236 Non-nephropathic cystinosis skos:closeMatch MONDO:0009064 ocular cystinosis semapv:ManualMappingCuration +NANDO:2201237 Infantile free sialic acid storage disease skos:closeMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualMappingCuration +NANDO:2201238 Intermediate severe Salla disease skos:closeMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualMappingCuration +NANDO:2201240 Congenital neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualMappingCuration +NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualMappingCuration +NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201244 Adult neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201248 Adrenomyeloneuropathy skos:closeMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualMappingCuration +NANDO:2201255 Homozygous familial hypercholesterolemia skos:closeMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualMappingCuration +NANDO:2201256 Ehlers-Danlos syndrome, classical type skos:closeMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualMappingCuration +NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualMappingCuration +NANDO:2201258 Ehlers-Danlos syndrome, vascular type skos:closeMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualMappingCuration +NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:closeMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualMappingCuration +NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:closeMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualMappingCuration +NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualMappingCuration +NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:closeMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualMappingCuration +NANDO:2201263 Acute intermittent porphyria skos:closeMatch MONDO:0008294 acute intermittent porphyria semapv:ManualMappingCuration +NANDO:2201264 Hereditary coproporphyria skos:closeMatch MONDO:0007369 hereditary coproporphyria semapv:ManualMappingCuration +NANDO:2201265 Variegate porphyria skos:closeMatch MONDO:0008297 variegate porphyria semapv:ManualMappingCuration +NANDO:2201266 Erythropoietic protoporphyria skos:closeMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:2201266 Erythropoietic protoporphyria skos:closeMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualMappingCuration +NANDO:2201267 Porphyria cutanea tarda skos:closeMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualMappingCuration +NANDO:2201269 X-linked dominant protoporphyria skos:closeMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:2201270 Hepatoerythropoietic porphyria skos:closeMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualMappingCuration +NANDO:2201273 α-thalassemia skos:closeMatch MONDO:0011399 alpha thalassemia semapv:ManualMappingCuration +NANDO:2201274 β-thalassemia skos:closeMatch MONDO:0019402 beta thalassemia semapv:ManualMappingCuration +NANDO:2201275 Congenital aplastic anemia skos:closeMatch MONDO:0001713 inherited aplastic anemia semapv:ManualMappingCuration +NANDO:2201276 Idiopathic aplastic anemia skos:closeMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualMappingCuration +NANDO:2201279 gp91phox-deficient chronic granulomatous disease skos:closeMatch MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:ManualMappingCuration +NANDO:2201280 p22phox-deficient chronic granulomatous disease skos:closeMatch MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative semapv:ManualMappingCuration +NANDO:2201281 p47phox-deficient chronic granulomatous disease skos:closeMatch MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 semapv:ManualMappingCuration +NANDO:2201282 p67phox-deficient chronic granulomatous disease skos:closeMatch MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 semapv:ManualMappingCuration +NANDO:2201283 p40phox-deficient chronic granulomatous disease skos:closeMatch MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 semapv:ManualMappingCuration +NANDO:2201287 Altman type IV sacrococcygeal teratoma skos:closeMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration +NANDO:2201288 Pelizaeus-Merzbacher disease skos:closeMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualMappingCuration +NANDO:2201289 Pelizaeus-Merzbacher like disease skos:closeMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualMappingCuration +NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:closeMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualMappingCuration +NANDO:2201291 18q-syndrome skos:closeMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualMappingCuration +NANDO:2201292 Allan-Herndon-Dudley syndrome skos:closeMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualMappingCuration +NANDO:2201293 Mitochondrial Hsp60 chaperonopathy skos:closeMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualMappingCuration +NANDO:2201294 Salla disease skos:closeMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration +NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:closeMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualMappingCuration +NANDO:2201296 Hypomyelination and congenital cataract skos:closeMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualMappingCuration +NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome skos:closeMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualMappingCuration +NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:closeMatch MONDO:0012198 PCWH syndrome semapv:ManualMappingCuration +NANDO:2201299 AGAT deficiency skos:closeMatch MONDO:0012996 AGAT deficiency semapv:ManualMappingCuration +NANDO:2201300 GAMT deficiency skos:closeMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualMappingCuration +NANDO:2201301 SLC6A8 deficiency skos:closeMatch MONDO:0010305 creatine transporter deficiency semapv:ManualMappingCuration +NANDO:2201302 Non-syndromic sagittal craniosynostosis skos:closeMatch MONDO:0018112 isolated scaphocephaly semapv:ManualMappingCuration +NANDO:2201305 Non-syndromic metopic craniosynostosis skos:closeMatch MONDO:0018065 isolated trigonocephaly semapv:ManualMappingCuration +NANDO:2201317 Anti-NMDA receptor encephalitis skos:closeMatch MONDO:0021081 anti-NMDA receptor encephalitis semapv:ManualMappingCuration +NANDO:2201319 Relapsing-remitting multiple sclerosis skos:closeMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualMappingCuration +NANDO:2201320 Primary progressive multiple sclerosis skos:closeMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:2201321 Secondary progressive multiple sclerosis skos:closeMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:2201322 Neuromyelitis optica skos:closeMatch MONDO:0019100 neuromyelitis optica semapv:ManualMappingCuration +NANDO:2201341 Epidermolysis bullosa simplex skos:closeMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration +NANDO:2201342 Junctional epidermolysis bullosa skos:closeMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2201343 Dystrophic epidermolysis bullosa skos:closeMatch MONDO:0017608 obsolete dystrophic epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2201345 Achondrogenesis type 2 skos:closeMatch MONDO:0008702 achondrogenesis type II semapv:ManualMappingCuration +NANDO:2201345 Achondrogenesis type 2 skos:closeMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualMappingCuration +NANDO:2201346 Hypochondrogenesis skos:closeMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualMappingCuration +NANDO:2201346 Hypochondrogenesis skos:closeMatch MONDO:0019669 hypochondrogenesis semapv:ManualMappingCuration +NANDO:2201347 Platyspondylic dysplasia, Torrance type skos:closeMatch MONDO:0007895 platyspondylic dysplasia, Torrance type semapv:ManualMappingCuration +NANDO:2201348 Spondyloepiphyseal dysplasia congenita skos:closeMatch MONDO:0008471 spondyloepiphyseal dysplasia congenita semapv:ManualMappingCuration +NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type semapv:ManualMappingCuration +NANDO:2201350 Kniest dysplasia skos:closeMatch MONDO:0007987 Kniest dysplasia semapv:ManualMappingCuration +NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis skos:closeMatch MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:ManualMappingCuration +NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening skos:closeMatch MONDO:0012206 Czech dysplasia, metatarsal type semapv:ManualMappingCuration +NANDO:2201354 Stickler syndrome type 1 skos:closeMatch MONDO:0007160 Stickler syndrome type 1 semapv:ManualMappingCuration +NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata skos:closeMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualMappingCuration +NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type skos:closeMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualMappingCuration +NANDO:2201358 CHILD syndrome skos:closeMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration +NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type semapv:ManualMappingCuration +NANDO:2201360 Brachytelephalangic chondrodysplasia punctata skos:closeMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualMappingCuration +NANDO:2201361 Greenberg dysplasia skos:closeMatch MONDO:0008974 Greenberg dysplasia semapv:ManualMappingCuration +NANDO:2201362 Astley-Kendall dysplasia skos:closeMatch MONDO:0019408 Astley-Kendall dysplasia semapv:ManualMappingCuration +NANDO:2201364 Melorheostosis skos:closeMatch MONDO:0007970 melorheostosis semapv:ManualMappingCuration +NANDO:2201365 Dysosteosclerosis skos:closeMatch MONDO:0009138 dysosteosclerosis semapv:ManualMappingCuration +NANDO:2201366 Craniometaphyseal dysplasia skos:closeMatch MONDO:0015465 craniometaphyseal dysplasia semapv:ManualMappingCuration +NANDO:2201367 Metaphyseal dysplasias skos:closeMatch MONDO:0009943 Pyle disease semapv:ManualMappingCuration +NANDO:2201368 Craniodiaphyseal dysplasia skos:closeMatch MONDO:0009031 craniodiaphyseal dysplasia semapv:ManualMappingCuration +NANDO:2201369 Sclerosteosis skos:closeMatch MONDO:0017838 sclerosteosis semapv:ManualMappingCuration +NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex skos:closeMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration +NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy skos:closeMatch MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy semapv:ManualMappingCuration +NANDO:2201378 Herlitz junctional epidermolysis bullosa skos:closeMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration +NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa skos:closeMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualMappingCuration +NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia skos:closeMatch MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia semapv:ManualMappingCuration +NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe skos:closeMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2200069 Yolk sac tumour skos:closeMatch MONDO:0003759 childhood ovarian yolk sac tumor semapv:ManualMappingCuration +NANDO:2200214 Complete atrio-ventricular block skos:closeMatch MONDO:0009326 congenital heart block semapv:ManualMappingCuration +NANDO:2200801 CD21 deficiency skos:closeMatch MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 semapv:ManualMappingCuration +NANDO:1200301 Borderline between aplastic anemia and MDS skos:closeMatch MONDO:0013851 autosomal dominant aplasia and myelodysplasia semapv:ManualMappingCuration +NANDO:1200701 Complete transposition of the great arteries (Group2) skos:closeMatch MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:ManualMappingCuration +NANDO:1200703 Complete transposition of the great arteries (Group4) skos:closeMatch MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation semapv:ManualMappingCuration +NANDO:1200838 Hepatic glycogen storage disease skos:closeMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:closeMatch MONDO:0019328 macrocystic lymphatic malformation semapv:ManualMappingCuration +NANDO:2200138 Amyloid nephropathy skos:closeMatch MONDO:0007099 familial visceral amyloidosis semapv:ManualMappingCuration +NANDO:2200190 Laryngeal stenosis skos:closeMatch MONDO:0007879 larynx atresia semapv:ManualMappingCuration +NANDO:2200218 Multiple atrial tachycardia skos:closeMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration +NANDO:2200284 Coarctation complex skos:closeMatch MONDO:0015446 atypical coarctation of aorta semapv:ManualMappingCuration +NANDO:2200605 HDL deficiency skos:closeMatch MONDO:0100189 apolipoprotein A-I deficiency semapv:ManualMappingCuration +NANDO:2200948 Congenital Isolated Hypoganglionosis skos:closeMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualMappingCuration +NANDO:2201246 Childhood cerebral adrenoleukodystrophy skos:closeMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200174 Chronic progressive external ophthalmoplegia skos:closeMatch MONDO:0005181 progressive external ophthalmoplegia semapv:ManualMappingCuration +NANDO:1201032 Cerebral creatine deficiency syndromes skos:closeMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration +NANDO:1201033 Arginine:glycine amidinotransferase deficiency skos:closeMatch MONDO:0012996 AGAT deficiency semapv:ManualMappingCuration +NANDO:1201034 Guanidinoacetate methyltransferase deficiency skos:closeMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualMappingCuration +NANDO:1201035 Creatine transporter deficiency skos:closeMatch MONDO:0010305 creatine transporter deficiency semapv:ManualMappingCuration +NANDO:1201036 Nephronophthisis skos:closeMatch MONDO:0009728 nephronophthisis 1 semapv:ManualMappingCuration +NANDO:1201036 Nephronophthisis skos:closeMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 skos:closeMatch MONDO:0014252 familial hypobetalipoproteinemia 1 semapv:ManualMappingCuration +NANDO:1201038 Homocystinuria skos:closeMatch MONDO:0004737 homocystinuria semapv:ManualMappingCuration +NANDO:1201039 Homocystinuria type 1 skos:closeMatch MONDO:0009352 classic homocystinuria semapv:ManualMappingCuration +NANDO:1201040 Homocystinuria type 2 skos:closeMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualMappingCuration +NANDO:1201041 Homocystinuria type 3 skos:closeMatch MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:ManualMappingCuration +NANDO:1201042 Progressive familial intrahepatic cholestasis skos:closeMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualMappingCuration +NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 skos:closeMatch MONDO:0008892 progressive familial intrahepatic cholestasis type 1 semapv:ManualMappingCuration +NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 skos:closeMatch MONDO:0011156 progressive familial intrahepatic cholestasis type 2 semapv:ManualMappingCuration +NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 skos:closeMatch MONDO:0011214 progressive familial intrahepatic cholestasis type 3 semapv:ManualMappingCuration +NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 skos:closeMatch MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 semapv:ManualMappingCuration +NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 skos:closeMatch MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 semapv:ManualMappingCuration +NANDO:1201048 Acquired factor X inhibitor skos:closeMatch MONDO:0021134 acquired factor X deficiency semapv:ManualMappingCuration +NANDO:1201049 Senior-Loken syndrome skos:closeMatch MONDO:0017842 Senior-Loken syndrome semapv:ManualMappingCuration +NANDO:1201050 COACH syndrome skos:closeMatch MONDO:0008996 obsolete COACH syndrome 1 semapv:ManualMappingCuration +NANDO:1201051 Oral-facial-digital syndrome skos:closeMatch MONDO:0015375 orofaciodigital syndrome semapv:ManualMappingCuration +NANDO:1201056 End-plate acetylcholine esterase deficiency skos:closeMatch MONDO:0011281 congenital myasthenic syndrome 5 semapv:ManualMappingCuration +NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea skos:closeMatch MONDO:0009689 congenital myasthenic syndrome 6 semapv:ManualMappingCuration +NANDO:1201058 RAPADILINO syndrome skos:closeMatch MONDO:0009955 rapadilino syndrome semapv:ManualMappingCuration +NANDO:1201059 Baller-Gerold syndrome skos:closeMatch MONDO:0009039 Baller-Gerold syndrome semapv:ManualMappingCuration +NANDO:1201060 Familial amyloid polyneuropathy type 1 skos:closeMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualMappingCuration +NANDO:1201062 Familial amyloid polyneuropathy type 3 skos:closeMatch MONDO:0019731 AApoAI amyloidosis semapv:ManualMappingCuration +NANDO:1201063 Familial amyloid polyneuropathy type 4 skos:closeMatch MONDO:0007097 Finnish type amyloidosis semapv:ManualMappingCuration +NANDO:1201064 Kearns-Sayre syndrome skos:closeMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualMappingCuration +NANDO:1201065 Herlitz junctional epidermolysis bullosa skos:closeMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration +NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa skos:closeMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualMappingCuration +NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma skos:closeMatch MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma semapv:ManualMappingCuration +NANDO:1201068 Agyria skos:closeMatch MONDO:0015146 classic lissencephaly semapv:ManualMappingCuration +NANDO:1201068 Agyria skos:closeMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualMappingCuration +NANDO:1201069 Pachygyria skos:closeMatch MONDO:0015146 classic lissencephaly semapv:ManualMappingCuration +NANDO:1201069 Pachygyria skos:closeMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualMappingCuration +NANDO:1201070 Subcortical band heterotopia skos:closeMatch MONDO:0020491 subcortical band heterotopia semapv:ManualMappingCuration +NANDO:1201079 Periventricular nodular heterotopia skos:closeMatch MONDO:0020341 periventricular nodular heterotopia semapv:ManualMappingCuration +NANDO:1201071 Polymicrogyria skos:closeMatch MONDO:0000087 polymicrogyria semapv:ManualMappingCuration +NANDO:1201072 Cobblestone brain malformation skos:closeMatch MONDO:0018869 cobblestone lissencephaly semapv:ManualMappingCuration +NANDO:1201073 Schizencephaly skos:closeMatch MONDO:0010011 schizencephaly semapv:ManualMappingCuration +NANDO:1201074 Porencephaly skos:closeMatch MONDO:0017410 porencephaly semapv:ManualMappingCuration +NANDO:1201080 Protein C deficiency skos:closeMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration +NANDO:1201081 Protein S deficiency skos:closeMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration +NANDO:1201083 Miller Dieker syndrome skos:closeMatch MONDO:0009532 Miller-Dieker lissencephaly syndrome semapv:ManualMappingCuration +NANDO:1201075 Pseudohypoparathyroidism type 1A skos:closeMatch MONDO:0007078 Pseudohypoparathyroidism type 1A semapv:ManualMappingCuration +NANDO:1201076 Pseudohypoparathyroidism type 1B skos:closeMatch MONDO:0011301 pseudohypoparathyroidism type 1B semapv:ManualMappingCuration +NANDO:1201077 Pseudohypoparathyroidism type 1C skos:closeMatch MONDO:0012911 pseudohypoparathyroidism type 1C semapv:ManualMappingCuration +NANDO:1201078 Pseudohypoparathyroidism type 2 skos:closeMatch MONDO:0008749 pseudohypoparathyroidism type 2 semapv:ManualMappingCuration +NANDO:2201385 Galloway-Mowat syndrome skos:closeMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration +NANDO:1200892 Hereditary sideroblastic anemia skos:closeMatch MONDO:0020099 inherited sideroblastic anemia semapv:ManualMappingCuration +NANDO:1200079 Late infantile metachromatic leukodystrophy skos:closeMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualMappingCuration +NANDO:1200081 Adult metachromatic leukodystrophy skos:closeMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualMappingCuration +NANDO:1200359 Mendelian susceptibility to mycobacterial disease skos:closeMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualMappingCuration +NANDO:1200428 Pulmonary capillary hemangiomatosis skos:closeMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualMappingCuration +NANDO:1200480 Minicore myopathy skos:closeMatch MONDO:0018948 multiminicore myopathy semapv:ManualMappingCuration +NANDO:1200568 Focal cortical dysplasia type 2a skos:closeMatch MONDO:0017101 isolated focal cortical dysplasia type IIa semapv:ManualMappingCuration +NANDO:1200569 Focal cortical dysplasia type 2b skos:closeMatch MONDO:0017102 isolated focal cortical dysplasia type IIb semapv:ManualMappingCuration +NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) skos:closeMatch MONDO:0019082 bullous pemphigoid semapv:ManualMappingCuration +NANDO:1200693 Truncus arteriosus communis skos:closeMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualMappingCuration +NANDO:1200751 Alveolar hypoventilation syndrome skos:closeMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration +NANDO:1200817 Congenital erythropoietic porphyria skos:closeMatch MONDO:0009902 cutaneous porphyria semapv:ManualMappingCuration +NANDO:1200831 Phosphoglycerate kinase deficiency skos:closeMatch MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:ManualMappingCuration +NANDO:1200889 Acquired pure red cell aplasia skos:closeMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualMappingCuration +NANDO:1200995 Adenosine deaminase 2 deficiency skos:closeMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration +NANDO:2200054 Primitive neuroectodermal tumors skos:closeMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualMappingCuration +NANDO:2200111 Diffuse mesangial sclerosis skos:closeMatch MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis semapv:ManualMappingCuration +NANDO:2200197 Bronchial asthma skos:closeMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualMappingCuration +NANDO:2200261 Truncus arteriosus communis skos:closeMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualMappingCuration +NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia skos:closeMatch MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia semapv:ManualMappingCuration +NANDO:2200374 21-Hydroxylase deficiency skos:closeMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200384 Ovarian dysgenesis skos:closeMatch MONDO:0009299 46 XX gonadal dysgenesis semapv:ManualMappingCuration +NANDO:2200389 5 alpha-reductase deficiency skos:closeMatch MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:ManualMappingCuration +NANDO:2200425 Polyangiitis nodosa skos:closeMatch MONDO:0019170 polyarteritis nodosa semapv:ManualMappingCuration +NANDO:2200441 Adenosine deaminase 2 deficiency skos:closeMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration +NANDO:2200450 Deficiency of the enzyme ADA2 skos:closeMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration +NANDO:2200459 NLRC4 mutation skos:closeMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200603 Familial combined hyperlipidemia skos:closeMatch MONDO:0001336 familial hyperlipidemia semapv:ManualMappingCuration +NANDO:2200610 Congenital porphyria skos:closeMatch MONDO:0019142 inherited porphyria semapv:ManualMappingCuration +NANDO:2200613 Acquired pure red cell aplasia skos:closeMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualMappingCuration +NANDO:2200672 Afibrinogenemia skos:closeMatch MONDO:0008737 congenital afibrinogenemia semapv:ManualMappingCuration +NANDO:2200673 Hypoprothrombinemia skos:closeMatch MONDO:0013361 congenital prothrombin deficiency semapv:ManualMappingCuration +NANDO:2200700 ZAP-70 deficiency skos:closeMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualMappingCuration +NANDO:2200737 STAT5b deficiency skos:closeMatch MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive semapv:ManualMappingCuration +NANDO:2200773 CARD9 deficiency skos:closeMatch MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency semapv:ManualMappingCuration +NANDO:2200788 Factor D deficiency skos:closeMatch MONDO:0013487 recurrent Neisseria infections due to factor D deficiency semapv:ManualMappingCuration +NANDO:2200790 Factor I deficiency skos:closeMatch MONDO:0012594 complement factor I deficiency semapv:ManualMappingCuration +NANDO:2200793 MASP2 deficiency skos:closeMatch MONDO:0013423 immunodeficiency due to MASP-2 deficiency semapv:ManualMappingCuration +NANDO:2200794 Ficolin 3 Deficiency skos:closeMatch MONDO:0013467 immunodeficiency due to ficolin3 deficiency semapv:ManualMappingCuration +NANDO:2200798 Factor I deficiency skos:closeMatch MONDO:0012594 complement factor I deficiency semapv:ManualMappingCuration +NANDO:2200872 Minicore myopathy skos:closeMatch MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia semapv:ManualMappingCuration +NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis skos:closeMatch MONDO:0019437 enthesitis-related juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201268 Congenital erythropoietic porphyria skos:closeMatch MONDO:0009902 cutaneous porphyria semapv:ManualMappingCuration +NANDO:2201277 Secondary aplastic anemia skos:closeMatch MONDO:0015610 acquired aplastic anemia semapv:ManualMappingCuration +NANDO:2201351 Spondyloperipheral dysplasia skos:closeMatch MONDO:0010078 spondyloperipheral dysplasia semapv:ManualMappingCuration diff --git a/src/ontology/external/nando-mappings.robot.owl b/src/ontology/external/nando-mappings.robot.owl new file mode 100644 index 00000000..248a59cb --- /dev/null +++ b/src/ontology/external/nando-mappings.robot.owl @@ -0,0 +1,32161 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + NANDO:2200317 + + + + + NANDO:2200317 + + + MONDO:NANDO + + + + + + + + NANDO:1201071 + + + + + NANDO:1201071 + + + MONDO:NANDO + + + + + + + + NANDO:2100135 + + + + + NANDO:2100135 + + + MONDO:NANDO + + + + + + + + NANDO:1200334 + NANDO:2200708 + + + + + NANDO:1200334 + + + MONDO:NANDO + + + + + NANDO:2200708 + + + MONDO:NANDO + + + + + + + + NANDO:2100257 + + + + + NANDO:2100257 + + + MONDO:NANDO + + + + + + + + NANDO:2200258 + + + + + NANDO:2200258 + + + MONDO:NANDO + + + + + + + + NANDO:1200799 + + + + + NANDO:1200799 + + + MONDO:NANDO + + + + + + + + NANDO:2100052 + NANDO:2200227 + + + + + NANDO:2200227 + + + MONDO:NANDO + + + + + NANDO:2100052 + + + MONDO:NANDO + + + + + + + + NANDO:2200475 + + + + + NANDO:2200475 + + + MONDO:NANDO + + + + + + + + NANDO:1200215 + NANDO:2200862 + + + + + NANDO:1200215 + + + MONDO:NANDO + + + + + NANDO:2200862 + + + MONDO:NANDO + + + + + + + + NANDO:1200932 + + + + + NANDO:1200932 + + + MONDO:NANDO + + + + + + + + NANDO:1200037 + NANDO:2100238 + NANDO:2200882 + + + + + NANDO:1200037 + + + MONDO:NANDO + + + + + NANDO:2100238 + + + MONDO:NANDO + + + + + NANDO:2200882 + + + MONDO:NANDO + + + + + + + + NANDO:1200026 + NANDO:2201321 + + + + + NANDO:1200026 + + + MONDO:NANDO + + + + + NANDO:2201321 + + + MONDO:NANDO + + + + + + + + NANDO:1200025 + NANDO:2201320 + + + + + NANDO:1200025 + + + MONDO:NANDO + + + + + NANDO:2201320 + + + MONDO:NANDO + + + + + + + + NANDO:1200936 + + + + + NANDO:1200936 + + + MONDO:NANDO + + + + + + + + NANDO:1201032 + NANDO:2100226 + NANDO:2200842 + + + + + NANDO:1201032 + + + 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NANDO:1200811 + + + MONDO:NANDO + + + + + + + + NANDO:2100216 + NANDO:2200816 + NANDO:2201287 + + + + + NANDO:2100216 + + + MONDO:NANDO + + + + + NANDO:2200816 + + + MONDO:NANDO + + + + + NANDO:2201287 + + + MONDO:NANDO + + + + + + + + NANDO:2200306 + + + + + NANDO:2200306 + + + MONDO:NANDO + + + + + + + + NANDO:2100220 + + + + + NANDO:2100220 + + + MONDO:NANDO + + + + + + + + NANDO:1200628 + + + + + NANDO:1200628 + + + MONDO:NANDO + + + + + + + + NANDO:2201057 + + + + + NANDO:2201057 + + + MONDO:NANDO + + + + + + + + NANDO:1200265 + + + + + NANDO:1200265 + + + MONDO:NANDO + + + + + + + + NANDO:1200275 + + + + + NANDO:1200275 + + + MONDO:NANDO + + + + + + + + NANDO:2200351 + + + + + NANDO:2200351 + + + MONDO:NANDO + + + + + + + + NANDO:2100188 + + + + + NANDO:2100188 + + + MONDO:NANDO + + + + + + + + NANDO:2200039 + + + + + NANDO:2200039 + + + MONDO:NANDO + + + + + + + + NANDO:1200612 + NANDO:2200989 + + + + + NANDO:1200612 + + + MONDO:NANDO + + + + + NANDO:2200989 + + + MONDO:NANDO + 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a/src/ontology/external/nando-mappings.robot.tsv b/src/ontology/external/nando-mappings.robot.tsv new file mode 100644 index 00000000..cd275f15 --- /dev/null +++ b/src/ontology/external/nando-mappings.robot.tsv @@ -0,0 +1,2347 @@ +subject_id subject_label object_id equivalence author_id mapping_provider object_label +ID A oboInOwl:hasDbXref >A oboInOwl:source >AI oboInOwl:source SPLIT=| >A oboInOwl:source +MONDO:0000050 isolated congenital growth hormone deficiency NANDO:2200317 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital growth hormone deficiency +MONDO:0000087 polymicrogyria NANDO:1201071 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polymicrogyria +MONDO:0000088 precocious puberty NANDO:2100135 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Precocious puberty +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome NANDO:1200334 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ICF syndrome +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome NANDO:2200708 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ICF syndrome +MONDO:0000147 polyposis NANDO:2100257 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polyposis +MONDO:0000153 transposition of the great arteries NANDO:2200258 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete transposition of the great arteries +MONDO:0000188 GLUT1 deficiency syndrome NANDO:1200799 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glucose transporter 1 deficiency +MONDO:0000190 ventricular fibrillation NANDO:2100052 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ventricular fibrillation +MONDO:0000190 ventricular fibrillation NANDO:2200227 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ventricular fibrillation +MONDO:0000351 disorder of methionine catabolism NANDO:2200475 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypermethioninemia +MONDO:0000355 Ullrich congenital muscular dystrophy NANDO:1200215 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ullrich disease +MONDO:0000355 Ullrich congenital muscular dystrophy NANDO:2200862 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ullrich congenital muscular dystrophy +MONDO:0000390 vitelliform macular dystrophy NANDO:1200932 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitelliform macular dystrophy +MONDO:0000437 cerebellar ataxia NANDO:1200037 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar degeneration +MONDO:0000437 cerebellar ataxia NANDO:2100238 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar degeneration +MONDO:0000437 cerebellar ataxia NANDO:2200882 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar degeneration +MONDO:0000450 secondary progressive multiple sclerosis NANDO:1200026 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Secondary progressive multiple sclerosis +MONDO:0000450 secondary progressive multiple sclerosis NANDO:2201321 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Secondary progressive multiple sclerosis +MONDO:0000451 primary progressive multiple sclerosis NANDO:1200025 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary progressive multiple sclerosis +MONDO:0000451 primary progressive multiple sclerosis NANDO:2201320 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary progressive multiple sclerosis +MONDO:0000455 cone dystrophy NANDO:1200936 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cone dystrophy +MONDO:0000456 cerebral creatine deficiency syndrome NANDO:1201032 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebral creatine deficiency syndromes +MONDO:0000456 cerebral creatine deficiency syndrome NANDO:2100226 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebral creatine deficiency syndromes +MONDO:0000456 cerebral creatine deficiency syndrome NANDO:2200842 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebral creatine deficiency syndrome +MONDO:0000468 third-degree atrioventricular block NANDO:2200214 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete atrio-ventricular block +MONDO:0000521 salivary gland carcinoma NANDO:2200076 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Salivary grand carcinoma +MONDO:0000608 familial juvenile hyperuricemic nephropathy NANDO:2100014 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial juvenile hyperuricemic nephropathy +MONDO:0000608 familial juvenile hyperuricemic nephropathy NANDO:2200139 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial juvenile hyperuricemic nephropathy +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm NANDO:2200099 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primitive neuroectodermal tumour of the central nervous system +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm NANDO:2200100 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primitive neuroectodermal tumour of the central nervous system +MONDO:0000721 xanthinuria NANDO:2200588 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Xanthinuria +MONDO:0000811 anomalous left coronary artery from the pulmonary artery NANDO:2200242 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Abnormal origin of left coronary artery from pulmonary artery +MONDO:0000839 obsolete congenital abnormality NANDO:1200957 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital anomalies syndrome +MONDO:0000872 B-cell childhood acute lymphoblastic leukemia NANDO:2200002 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mature B-cell lymphoblastic leukemia +MONDO:0000875 adult acute monocytic leukemia NANDO:2200008 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute monocytic leukemia +MONDO:0000875 adult acute monocytic leukemia NANDO:2200009 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute monocytic leukemia +MONDO:0000903 myoclonus-dystonia syndrome NANDO:1200522 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 11 +MONDO:0000940 trypanosomiasis NANDO:2200774 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Trypanosomiasis +MONDO:0000984 thalassemia NANDO:2200626 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thalassemia +MONDO:0000995 familial periodic paralysis NANDO:1200502 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary periodic paralysis +MONDO:0001083 Fanconi renotubular syndrome NANDO:2100027 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fanconi syndrome +MONDO:0001083 Fanconi renotubular syndrome NANDO:2200187 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fanconi syndrome +MONDO:0001085 interstitial nephritis NANDO:2200136 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tubulointerstitial nephritis +MONDO:0001105 renal hypertension NANDO:2100016 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renovascular hypertension +MONDO:0001105 renal hypertension NANDO:2200141 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renovascular hypertension +MONDO:0001110 chronic pyelonephritis NANDO:2100012 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic pyelonephritis +MONDO:0001110 chronic pyelonephritis NANDO:2200137 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic pyelonephritis +MONDO:0001115 familial polycythemia NANDO:2100187 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial polycythemia +MONDO:0001115 familial polycythemia NANDO:2200644 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial polycythemia +MONDO:0001220 hypoparathyroidism NANDO:1200775 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoparathyroidism +MONDO:0001220 hypoparathyroidism NANDO:2100124 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoparathyroidism +MONDO:0001220 hypoparathyroidism NANDO:2200345 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoparathyroidism +MONDO:0001243 disseminated intravascular coagulation NANDO:2200639 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disseminated intravascular coagulation +MONDO:0001261 Mobitz type II atrioventricular block NANDO:2100044 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mobitz type II second degree atrioventricular block +MONDO:0001261 Mobitz type II atrioventricular block NANDO:2200213 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mobitz type II second degree atrioventricular block +MONDO:0001298 congenital mitral valve insufficiency NANDO:2200303 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitral regurgitation +MONDO:0001324 obsolete hyperandrogenism NANDO:2200380 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperandrogenism +MONDO:0001328 thyroid hormone resistance syndrome NANDO:1200395 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Resistance to thyroid hormone +MONDO:0001328 thyroid hormone resistance syndrome NANDO:2100121 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Resistance to thyroid hormone +MONDO:0001328 thyroid hormone resistance syndrome NANDO:2200341 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Resistance to thyroid hormone +MONDO:0001336 familial hyperlipidemia NANDO:2200603 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial combined hyperlipidemia +MONDO:0001341 selective IgA deficiency disease NANDO:1200347 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Selective IgA deficiency +MONDO:0001341 selective IgA deficiency disease NANDO:2200720 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Selective IgA deficiency +MONDO:0001347 facioscapulohumeral muscular dystrophy NANDO:1200491 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Facioscapulohumeral muscular dystrophy +MONDO:0001347 facioscapulohumeral muscular dystrophy NANDO:2200859 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Facioscapulohumeral muscular dystrophy +MONDO:0001414 osteopoikilosis NANDO:2201024 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteopoikilosis +MONDO:0001422 primary aldosteronism NANDO:2200361 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aldosteronism +MONDO:0001437 pulmonary alveolar proteinosis NANDO:1200746 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary alveolar proteinosis +MONDO:0001493 chronic pulmonary heart disease NANDO:2200299 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic cor pulmonale +MONDO:0001516 spinal muscular atrophy NANDO:1200003 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal muscular atrophy +MONDO:0001516 spinal muscular atrophy NANDO:2100231 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal muscular atrophy +MONDO:0001516 spinal muscular atrophy NANDO:2200853 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal muscular atrophy +MONDO:0001558 Potter sequence NANDO:2200157 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Potter syndrome +MONDO:0001586 mucopolysaccharidosis type 1 NANDO:2200547 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type I +MONDO:0001586 mucopolysaccharidosis type 1 NANDO:2201168 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hurler Disease +MONDO:0001645 crescentic glomerulonephritis NANDO:1200714 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rapidly progressive glomerulonephritis +MONDO:0001645 crescentic glomerulonephritis NANDO:1200723 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crescentic glomerulonephritis +MONDO:0001676 erythropoietic protoporphyria NANDO:1200815 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Erythropoietic protoporphyria +MONDO:0001676 erythropoietic protoporphyria NANDO:2201266 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Erythropoietic protoporphyria +MONDO:0001700 megaloblastic anemia NANDO:2100176 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megaloblastic anemia +MONDO:0001700 megaloblastic anemia NANDO:2200612 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megaloblastic anemia +MONDO:0001705 pure red-cell aplasia NANDO:2100177 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pure red cell aplasia +MONDO:0001713 inherited aplastic anemia NANDO:1200302 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital aplastic anemia +MONDO:0001713 inherited aplastic anemia NANDO:2201275 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital aplastic anemia +MONDO:0001734 tuberous sclerosis NANDO:1200607 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tuberous sclerosis complex +MONDO:0001734 tuberous sclerosis NANDO:2200826 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tuberous sclerosis complex +MONDO:0001741 hyperparathyroidism NANDO:2100123 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperparathyroidism +MONDO:0001741 hyperparathyroidism NANDO:2200343 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperparathyroidism +MONDO:0001790 spinal cord lipoma NANDO:2200815 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal lipoma +MONDO:0001823 sick sinus syndrome NANDO:2100043 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sick sinus syndrome +MONDO:0001823 sick sinus syndrome NANDO:2200212 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sick sinus syndrome +MONDO:0001909 renal tubular acidosis NANDO:2100019 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renal tubular acidosis +MONDO:0001909 renal tubular acidosis NANDO:2200144 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renal tubular acidosis +MONDO:0001927 pulmonary valve insufficiency NANDO:2200305 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary valve regurgitation +MONDO:0001946 obsolete hyperestrogenism NANDO:2200379 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperestrogenism +MONDO:0001969 mixed gonadal dysgenesis NANDO:2200388 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mixed gonadal dysgenesis +MONDO:0001982 Niemann-Pick disease NANDO:2200561 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Niemann-Pick disease +MONDO:0002012 methylmalonic acidemia NANDO:1200793 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia +MONDO:0002012 methylmalonic acidemia NANDO:2200491 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia +MONDO:0002013 lymphangioma NANDO:2201032 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphangioma +MONDO:0002070 ventricular septal defect NANDO:2100087 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ventricular septal defect +MONDO:0002070 ventricular septal defect NANDO:2200270 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ventricular septal defect +MONDO:0002108 thyroid cancer NANDO:2200074 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thyroid cancer +MONDO:0002145 disorder of sexual differentiation NANDO:2100140 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disorders of sex development +MONDO:0002241 factor XIII deficiency NANDO:2200681 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor XIII deficiency +MONDO:0002244 factor VII deficiency NANDO:2200675 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor VII deficiency +MONDO:0002247 factor X deficiency NANDO:2200678 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor X deficiency +MONDO:0002304 protein S deficiency NANDO:1201081 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Protein S deficiency +MONDO:0002304 protein S deficiency NANDO:2100198 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Protein S deficiency +MONDO:0002304 protein S deficiency NANDO:2200690 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Protein S deficiency +MONDO:0002327 intracranial cavernous angioma NANDO:2200852 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cavernous angioma of the brain and spinal cord +MONDO:0002335 chronic inflammatory demyelinating polyneuritis NANDO:1200030 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0002335 chronic inflammatory demyelinating polyneuritis NANDO:2100251 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0002335 chronic inflammatory demyelinating polyneuritis NANDO:2200905 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0002412 disorder of glycogen metabolism NANDO:1200838 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease +MONDO:0002413 glycogen storage disease I NANDO:1200840 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type Ia +MONDO:0002413 glycogen storage disease I NANDO:1201018 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type I +MONDO:0002413 glycogen storage disease I NANDO:2200538 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type I +MONDO:0002429 idiopathic interstitial pneumonia NANDO:1200416 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic interstitial pneumonia +MONDO:0002429 idiopathic interstitial pneumonia NANDO:2200199 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic interstitial pneumonia +MONDO:0002442 long QT syndrome NANDO:2100053 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Long QT syndrome +MONDO:0002442 long QT syndrome NANDO:2200228 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Long qt syndrome +MONDO:0002461 membranoproliferative glomerulonephritis NANDO:1200737 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lobular membranoproliferative glomerulonephritis type I +MONDO:0002461 membranoproliferative glomerulonephritis NANDO:2200123 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Membranoproliferative glomerulonephritis +MONDO:0002470 photosensitive trichothiodystrophy NANDO:1200626 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature +MONDO:0002473 cystic kidney disease NANDO:2200172 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Simple renal cyst +MONDO:0002474 primary hyperoxaluria NANDO:2200503 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary hyperoxaluria +MONDO:0002540 childhood oligodendroglioma NANDO:2200089 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oligodendroglioma +MONDO:0002543 adult oligodendroglioma NANDO:2200089 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oligodendroglioma +MONDO:0002546 schwannoma NANDO:2200103 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurinoma +MONDO:0002561 lysosomal storage disease NANDO:1200055 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lysosomal storage disease +MONDO:0002561 lysosomal storage disease NANDO:2100165 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lysosomal storage disease +MONDO:0002568 tracheal stenosis NANDO:2200194 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tracheal stenosis +MONDO:0002623 pediatric osteosarcoma NANDO:2200048 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteosarcoma +MONDO:0002637 histiocytosis NANDO:2100005 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Histiocytosis +MONDO:0002676 adult fibrosarcoma NANDO:2200060 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fibrosarcoma +MONDO:0002678 pediatric fibrosarcoma NANDO:2200060 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fibrosarcoma +MONDO:0002714 central nervous system cancer NANDO:2100007 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central nervous system tumors +MONDO:0002718 central nervous system teratoma NANDO:2200104 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Teratoma of the central nervous system +MONDO:0002728 rhabdoid tumor NANDO:2200057 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Malignant rhabdoid tumour +MONDO:0002794 adult medulloblastoma NANDO:2200090 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Medulloblastoma +MONDO:0002797 childhood medulloblastoma NANDO:2200090 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Medulloblastoma +MONDO:0002807 bronchial neoplasm NANDO:2200081 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchial tumour +MONDO:0002869 heart valve disorder NANDO:2100105 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Valvular heart disease +MONDO:0002870 tricuspid valve insufficiency NANDO:2200301 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tricuspid valve regurgitation +MONDO:0002921 congenital structural myopathy NANDO:1200482 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Centronuclear myopathy +MONDO:0002921 congenital structural myopathy NANDO:2200867 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myotubular myopathy +MONDO:0002926 clear cell sarcoma NANDO:2200062 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Clear cell sarcoma +MONDO:0002933 osteosclerosis NANDO:2201022 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteosclerotic diseases +MONDO:0003002 dysgerminoma NANDO:2200066 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dysgerminoma +MONDO:0003057 pediatric meningioma NANDO:2200094 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Meningioma +MONDO:0003075 bilateral retinoblastoma NANDO:2201038 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bilateral retinoblastoma +MONDO:0003136 anti-basement membrane glomerulonephritis NANDO:1200717 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anti-GBM rapidly progressive glomerulonephritis +MONDO:0003139 mesangial proliferative glomerulonephritis NANDO:1201029 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mesangial proliferative glomerulonephritis +MONDO:0003139 mesangial proliferative glomerulonephritis NANDO:2200122 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mesangial proliferative glomerulonephritis +MONDO:0003157 disappearing bone disease NANDO:1200878 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphangiomatosis / Gorham-Stout disease +MONDO:0003157 disappearing bone disease NANDO:1200880 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO obsolete Gorham disease +MONDO:0003330 urinary tract obstruction NANDO:2200178 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Obstructive uropathy +MONDO:0003517 mature teratoma NANDO:2200105 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mature teratoma +MONDO:0003523 gastrin-producing neuroendocrine tumor NANDO:2200395 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gastrinoma +MONDO:0003585 adult liposarcoma NANDO:2200065 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Liposarcoma +MONDO:0003587 pediatric liposarcoma NANDO:2200065 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Liposarcoma +MONDO:0003659 pediatric lymphoma NANDO:2100004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphoma +MONDO:0003660 adult lymphoma NANDO:2100004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphoma +MONDO:0003664 hemolytic anemia NANDO:2200636 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hemolytic anemia +MONDO:0003689 familial hemolytic anemia NANDO:2100183 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary hemolytic anemia +MONDO:0003759 childhood ovarian yolk sac tumor NANDO:2200069 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Yolk sac tumour +MONDO:0003778 inborn error of immunity NANDO:1200320 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary immunodeficiency syndrome +MONDO:0003778 inborn error of immunity NANDO:2100204 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Immunodeficiency +MONDO:0003832 complement deficiency NANDO:1200364 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Inherited deficiency of complement system +MONDO:0003832 complement deficiency NANDO:2200776 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Inherited deficiency of complement system +MONDO:0003900 connective tissue disorder NANDO:2100172 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Connective tissue disorder +MONDO:0003924 adrenal cortex adenoma NANDO:2200352 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adrenal adenoma +MONDO:0003947 hyper-IgM syndrome NANDO:1200345 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper-IgM syndrome +MONDO:0003947 hyper-IgM syndrome NANDO:2200718 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper-IgM syndrome +MONDO:0003964 myositis ossificans NANDO:1200871 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fibrodysplasia ossificans progressiva +MONDO:0003964 myositis ossificans NANDO:2201020 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fibrodysplasia ossificans progressiva +MONDO:0004000 childhood pilocytic astrocytoma NANDO:2200084 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pilocytic astrocytoma +MONDO:0004069 inborn mitochondrial metabolism disorder NANDO:1200173 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial diseases +MONDO:0004069 inborn mitochondrial metabolism disorder NANDO:2100163 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial diseases +MONDO:0004218 childhood germ cell brain tumor NANDO:2200108 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intracranial germ cell tumour +MONDO:0004335 digestive system disorder NANDO:1100013 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gastrointestinal disease +MONDO:0004355 childhood leukemia NANDO:2100002 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leukemia +MONDO:0004425 hyperthyroidism NANDO:2100119 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperthyroidism +MONDO:0004425 hyperthyroidism NANDO:2200329 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperthyroidism +MONDO:0004471 bacterial arthritis NANDO:2200437 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pyogenic arthritis, pyoderma gangrenosum, acne syndrome +MONDO:0004591 impetigo herpetiformis NANDO:1200243 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Impetigo herpetiformis +MONDO:0004691 autosomal dominant polycystic kidney disease NANDO:1200368 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal dominant polycystic kidney disease +MONDO:0004691 autosomal dominant polycystic kidney disease NANDO:2200153 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal dominant polycystic kidney disease +MONDO:0004737 homocystinuria NANDO:1201038 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Homocystinuria +MONDO:0004737 homocystinuria NANDO:2200474 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Homocystinuria +MONDO:0004739 urea cycle disorder NANDO:1200802 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Urea cycle disorder +MONDO:0004782 diabetes insipidus NANDO:2100117 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diabetes insipidus +MONDO:0004822 bronchiectasis NANDO:2100036 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchiectasis +MONDO:0004822 bronchiectasis NANDO:2200206 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchiectasis +MONDO:0004890 partial central choroid dystrophy NANDO:1200939 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central areolar choroidal dystrophy +MONDO:0004933 hypoplastic left heart syndrome NANDO:1200705 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoplastic left heart syndrome +MONDO:0004933 hypoplastic left heart syndrome NANDO:2100071 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoplastic left heart syndrome +MONDO:0004933 hypoplastic left heart syndrome NANDO:2200249 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoplastic left heart syndrome +MONDO:0004952 Hodgkins lymphoma NANDO:2200024 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hodgkin lymphoma +MONDO:0004955 obsolete metabolic syndrome NANDO:1100002 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Metabolic disease +MONDO:0004963 T-cell acute lymphoblastic leukemia NANDO:2200003 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO T-cell lymphoblastic leukemia +MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified NANDO:2200028 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peripheral T-cell lymphoma, not otherwise specified +MONDO:0004974 adrenal gland pheochromocytoma NANDO:2200078 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pheochromocytoma +MONDO:0004976 amyotrophic lateral sclerosis NANDO:1200002 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Amyotrophic lateral sclerosis +MONDO:0004977 angioimmunoblastic T-cell lymphoma NANDO:2200029 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Angioimmunoblastic T-cell lymphoma +MONDO:0004978 obsolete aortic stenosis NANDO:2100098 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aortic stenosis +MONDO:0004981 atrial fibrillation NANDO:2100051 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrial fibrillation +MONDO:0004981 atrial fibrillation NANDO:2200226 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrial fibrillation +MONDO:0004995 cardiovascular disorder NANDO:1100005 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cardiovascular disease +MONDO:0004997 chondroblastoma NANDO:2200051 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chondroblastoma +MONDO:0005006 clear cell sarcoma of kidney NANDO:2200044 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Clear cell sarcoma of the kidney +MONDO:0005011 Crohn disease NANDO:1200444 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crohn's disease +MONDO:0005011 Crohn disease NANDO:1200446 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Colonic Crohn's disease +MONDO:0005011 Crohn disease NANDO:2200921 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crohn's disease +MONDO:0005015 diabetes mellitus NANDO:2100157 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diabetes +MONDO:0005015 diabetes mellitus NANDO:2100158 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diabetes +MONDO:0005021 dilated cardiomyopathy NANDO:2100057 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dilated cardiomyopathy +MONDO:0005021 dilated cardiomyopathy NANDO:2200232 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dilated cardiomyopathy +MONDO:0005029 essential thrombocythemia NANDO:2100194 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Essential thrombocythemia +MONDO:0005029 essential thrombocythemia NANDO:2200655 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Essential thrombocythemia +MONDO:0005035 ganglioneuroblastoma NANDO:2200041 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ganglioneuroblastoma +MONDO:0005045 hypertrophic cardiomyopathy NANDO:1200286 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypertrophic cardiomyopathy +MONDO:0005045 hypertrophic cardiomyopathy NANDO:1200288 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypertrophic obstructive cardiomyopathy +MONDO:0005045 hypertrophic cardiomyopathy NANDO:2100054 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypertrophic cardiomyopathy +MONDO:0005045 hypertrophic cardiomyopathy NANDO:2200229 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypertrophic cardiomyopathy +MONDO:0005045 hypertrophic cardiomyopathy NANDO:2201042 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypertrophic obstructive cardiomyopathy +MONDO:0005046 immune system disorder NANDO:1100004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Immune system disease +MONDO:0005046 immune system disorder NANDO:2100202 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Immune system disease +MONDO:0005058 leiomyosarcoma NANDO:2200064 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leiomyosarcoma +MONDO:0005059 leukemia NANDO:2100002 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leukemia +MONDO:0005060 liposarcoma NANDO:2200065 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Liposarcoma +MONDO:0005062 lymphoma NANDO:2100004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphoma +MONDO:0005066 metabolic disease NANDO:1100002 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Metabolic disease +MONDO:0005068 myocardial infarction NANDO:2200248 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myocardial infarction +MONDO:0005072 neuroblastoma NANDO:2200040 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuroblastoma +MONDO:0005086 renal cell carcinoma NANDO:2200045 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renal cell carcinoma +MONDO:0005087 respiratory system disorder NANDO:1100010 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Respiratory disease +MONDO:0005093 skin disorder NANDO:2100281 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Skin disease +MONDO:0005100 systemic sclerosis NANDO:1200277 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic sclerosis +MONDO:0005100 systemic sclerosis NANDO:2200429 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic sclerosis +MONDO:0005101 ulcerative colitis NANDO:1200449 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ulcerative colitis +MONDO:0005101 ulcerative colitis NANDO:2200920 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ulcerative colitis +MONDO:0005102 undifferentiated (embryonal) sarcoma NANDO:2200058 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Undifferentiated sarcoma +MONDO:0005105 melanoma NANDO:2200077 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Malignant melanoma +MONDO:0005109 HIV infectious disease NANDO:2200810 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO HIV infection +MONDO:0005147 type 1 diabetes mellitus NANDO:2200460 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diabetes mellitus type 1 +MONDO:0005148 type 2 diabetes mellitus NANDO:2200461 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diabetes mellitus type 2 +MONDO:0005151 endocrine system disorder NANDO:1100009 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Endocrine disease +MONDO:0005151 endocrine system disorder NANDO:2100109 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Endocrine disease +MONDO:0005152 hypopituitarism NANDO:1200387 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypopituitarism syndrome +MONDO:0005152 hypopituitarism NANDO:2100110 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypopituitarism +MONDO:0005155 cirrhosis of liver NANDO:2100268 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Liver cirrhosis +MONDO:0005155 cirrhosis of liver NANDO:2200937 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Liver cirrhosis +MONDO:0005160 aortic aneurysm NANDO:2100101 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aortic aneurysm +MONDO:0005160 aortic aneurysm NANDO:2200294 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aortic aneurysm +MONDO:0005164 fibrosarcoma NANDO:2200060 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fibrosarcoma +MONDO:0005180 Parkinson disease NANDO:1200010 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Parkinson's disease +MONDO:0005181 progressive external ophthalmoplegia NANDO:1200174 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic progressive external ophthalmoplegia +MONDO:0005201 restrictive cardiomyopathy NANDO:1200292 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Restrictive cardiomyopathy +MONDO:0005201 restrictive cardiomyopathy NANDO:1200293 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic restrictive cardiomyopathy +MONDO:0005201 restrictive cardiomyopathy NANDO:2100058 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Restrictive cardiomyopathy +MONDO:0005201 restrictive cardiomyopathy NANDO:2200233 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Restrictive cardiomyopathy +MONDO:0005204 primary antiphospholipid syndrome NANDO:1200267 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary antiphospholipid antibody syndrome +MONDO:0005207 choriocarcinoma NANDO:2200070 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Choriocarcinoma +MONDO:0005212 rhabdomyosarcoma NANDO:2200056 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rhabdomyosarcoma +MONDO:0005223 acute myeloid leukemia with minimal differentiation NANDO:2200004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute myeloid leukemia with minimal differentiation +MONDO:0005224 acute myeloblastic leukemia without maturation NANDO:2200005 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute myeloid leukemia without maturation +MONDO:0005265 inflammatory bowel disease NANDO:2100259 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Inflammatory bowel disease +MONDO:0005300 chronic kidney disease NANDO:2100008 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic kidney disease +MONDO:0005300 chronic kidney disease NANDO:2100023 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic renal failure +MONDO:0005301 multiple sclerosis NANDO:1200023 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple sclerosis +MONDO:0005301 multiple sclerosis NANDO:2100250 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple sclerosis +MONDO:0005301 multiple sclerosis NANDO:2200904 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple sclerosis +MONDO:0005306 ankylosing spondylitis NANDO:1200870 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ankylosing spondylitis +MONDO:0005310 atrial flutter NANDO:2100050 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrial flutter +MONDO:0005310 atrial flutter NANDO:2200218 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple atrial tachycardia +MONDO:0005310 atrial flutter NANDO:2200225 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrial flutter +MONDO:0005314 relapsing-remitting multiple sclerosis NANDO:1200024 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Relapsing-remitting multiple sclerosis +MONDO:0005314 relapsing-remitting multiple sclerosis NANDO:2201319 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Relapsing-remitting multiple sclerosis +MONDO:0005342 IgA glomerulonephritis NANDO:1200366 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IgA nephropathy +MONDO:0005342 IgA glomerulonephritis NANDO:2200121 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IgA nephropathy +MONDO:0005361 eosinophilic esophagitis NANDO:1200456 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Eosinophilic esophagitis +MONDO:0005363 inherited focal segmental glomerulosclerosis NANDO:1200722 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Focal segmental glomerulosclerosis +MONDO:0005363 inherited focal segmental glomerulosclerosis NANDO:2200113 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Focal segmental glomerulosclerosis +MONDO:0005364 Graves disease NANDO:2200328 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Basedow disease +MONDO:0005369 carcinoid tumor NANDO:2200396 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carcinoid syndrome +MONDO:0005376 membranous glomerulonephritis NANDO:1200721 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Membranous nephropathy +MONDO:0005376 membranous glomerulonephritis NANDO:2200114 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Membranous nephropathy +MONDO:0005377 nephrotic syndrome NANDO:2100009 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephrotic syndrome +MONDO:0005381 bone disorder NANDO:2100291 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bone disease +MONDO:0005381 bone disorder NANDO:2100293 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bone disease +MONDO:0005385 vascular disorder NANDO:2100294 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vascular disease +MONDO:0005387 primary ovarian failure NANDO:2100139 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypergonadotropic hypogonadism +MONDO:0005388 primary biliary cholangitis NANDO:1200439 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary biliary cholangitis +MONDO:0005420 hypothyroidism NANDO:2100120 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypothyroidism +MONDO:0005429 prion disease NANDO:1200186 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Prion disease +MONDO:0005437 testicular dysgenesis syndrome NANDO:2200383 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Testicular dysgenesis +MONDO:0005439 familial hypercholesterolemia NANDO:2200602 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial hypercholesterolemia +MONDO:0005440 embryonal carcinoma NANDO:2200067 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Embryonal carcinoma +MONDO:0005477 ventricular tachycardia NANDO:2100049 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ventricular tachycardia +MONDO:0005479 atrial tachycardia NANDO:2200218 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple atrial tachycardia +MONDO:0005508 hereditary multiple osteochondromas NANDO:2200049 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteochondromatosis +MONDO:0005508 hereditary multiple osteochondromas NANDO:2201014 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple cartilaginous exostosis +MONDO:0005508 hereditary multiple osteochondromas NANDO:2201015 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Enchondromatosis +MONDO:0005532 Crohn's colitis NANDO:1200446 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Colonic Crohn's disease +MONDO:0005533 distal colitis NANDO:1200451 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Left-sided colitis +MONDO:0005534 ileocolitis NANDO:1200447 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crohn ileocolitis +MONDO:0005536 pancolitis NANDO:1200450 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pan-ulcerative colitis +MONDO:0005539 small bowel Crohn disease NANDO:1200445 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO small bowel Crohn disease +MONDO:0005549 renal cell adenocarcinoma NANDO:2200045 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renal cell carcinoma +MONDO:0005554 rheumatic disorder NANDO:2100151 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Collagen disease +MONDO:0005554 rheumatic disorder NANDO:2100152 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Collagen disease +MONDO:0005556 lupus nephritis NANDO:2200128 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lupus nephritis +MONDO:0005570 hematologic disorder NANDO:1100006 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Blood disease +MONDO:0005570 hematologic disorder NANDO:2100175 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Blood disease +MONDO:0005624 atrophic thyroiditis NANDO:2200336 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrophic thyroiditis +MONDO:0005648 aortic valve insufficiency NANDO:2200307 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aortic valve regurgitation +MONDO:0005711 congenital diaphragmatic hernia NANDO:1200911 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital diaphragmatic hernia +MONDO:0005711 congenital diaphragmatic hernia NANDO:2100040 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital diaphragmatic hernia +MONDO:0005711 congenital diaphragmatic hernia NANDO:2200210 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital diaphragmatic hernia +MONDO:0005713 obsolete MONDO:0005713 NANDO:2200890 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital rubella syndrome +MONDO:0005715 congenital toxoplasmosis NANDO:2200892 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital toxoplasmosis +MONDO:0005744 yolk sac tumor NANDO:2200069 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Yolk sac tumour +MONDO:0005764 follicular dendritic cell sarcoma NANDO:2200034 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Follicular dendritic cell sarcoma +MONDO:0005775 G6PD deficiency NANDO:2200627 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glucose-6-phosphate dehydrogenase deficiency +MONDO:0005803 hyperinsulinemic hypoglycemia NANDO:2100143 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperinsulinemic hypoglycemia +MONDO:0005803 hyperinsulinemic hypoglycemia NANDO:2200399 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hyperinsulinemia +MONDO:0005804 hyperprolactinemia NANDO:2100115 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperprolactinemia +MONDO:0005804 hyperprolactinemia NANDO:2200322 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperprolactinemia +MONDO:0005810 infectious mononucleosis NANDO:1200668 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pfeiffer syndrome +MONDO:0005810 infectious mononucleosis NANDO:2200976 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pfeiffer syndrome +MONDO:0005813 interdigitating dendritic cell sarcoma NANDO:2200035 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Interdigitating dendritic cell sarcoma +MONDO:0005827 lipoatrophic diabetes NANDO:2200465 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lipoatrophic diabetes +MONDO:0005852 mitral valve stenosis NANDO:1200963 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital mitral stenosis +MONDO:0005852 mitral valve stenosis NANDO:2200302 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitral valve stenosis +MONDO:0005854 mixed connective tissue disease NANDO:1200278 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mixed connective tissue disease +MONDO:0005854 mixed connective tissue disease NANDO:2200430 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mixed connective tissue disease +MONDO:0005965 spinal stenosis NANDO:1200372 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coexisting cervical and lumbar spinal stenosis +MONDO:0005997 tricuspid valve stenosis NANDO:2200300 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tricuspid valve stenosis +MONDO:0006007 vesicoureteral reflux NANDO:2200179 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vesicoureteral reflux +MONDO:0006055 sex cord-stromal tumor NANDO:2200072 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sex-cord stromal tumour +MONDO:0006238 growth hormone-producing pituitary gland adenoma NANDO:1200385 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Growth hormone secreting pituitary adenoma +MONDO:0006238 growth hormone-producing pituitary gland adenoma NANDO:1200386 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone +MONDO:0006287 malignancy in giant cell tumor of bone NANDO:2200052 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Malignancy in giant cell tumour of bone +MONDO:0006373 pituitary gland adenoma NANDO:2200095 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pituitary adenoma +MONDO:0006412 sinus histiocytosis with massive lymphadenopathy NANDO:2200039 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rosai-Dorfman disease +MONDO:0006444 teratoma with malignant transformation NANDO:2200107 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Teratoma with malignant transformation +MONDO:0006451 thymic carcinoma NANDO:2200079 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Malignant thymoma +MONDO:0006536 congenital generalized lipodystrophy NANDO:1200859 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Generalized congenital lipodystrophy +MONDO:0006541 epidermolysis bullosa NANDO:1200234 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epidermolysis bullosa +MONDO:0006541 epidermolysis bullosa NANDO:2100284 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epidermolysis bullosa +MONDO:0006541 epidermolysis bullosa NANDO:2201000 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epidermolysis bullosa +MONDO:0006573 lipodystrophy NANDO:1200858 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lipodystrophy +MONDO:0006573 lipodystrophy NANDO:2100147 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lipodystrophy +MONDO:0006573 lipodystrophy NANDO:2200404 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lipodystrophy +MONDO:0006594 pemphigus NANDO:1200228 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pemphigus +MONDO:0006639 adrenal cortex carcinoma NANDO:2200073 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adrenocortical carcinoma +MONDO:0006656 aortitis NANDO:1200251 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Takayasu arteritis +MONDO:0006656 aortitis NANDO:2200423 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Takayasu arteritis +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome NANDO:2100130 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Apparent mineralocorticoid excess syndrome +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome NANDO:2200362 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Apparent mineralocorticoid excess syndrome +MONDO:0006664 atrial septal defect NANDO:2100085 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrial septal defect +MONDO:0006689 obsolete carcinoid syndrome NANDO:2200396 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carcinoid syndrome +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy NANDO:1200030 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy NANDO:2100251 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy NANDO:2200905 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0006711 constrictive pericarditis NANDO:2100064 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Constrictive pericarditis +MONDO:0006711 constrictive pericarditis NANDO:2200239 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Constrictive pericarditis +MONDO:0006715 coronary stenosis NANDO:2200246 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Stenosis or atresia of coronary artery +MONDO:0006779 heart aneurysm NANDO:2200234 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aneurysm of ventricle +MONDO:0006785 obsolete Henoch-Schoenlein purpura NANDO:1200741 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Henoch-Schonlein purpura nephritis +MONDO:0006795 hypersplenism NANDO:2200637 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypersplenism +MONDO:0006802 inappropriate ADH syndrome NANDO:1200376 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Syndrome of inappropriate secretion of antidiuretic hormone +MONDO:0006802 inappropriate ADH syndrome NANDO:2100116 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Syndrome of inappropriate secretion of antidiuretic hormone +MONDO:0006802 inappropriate ADH syndrome NANDO:2200323 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Syndrome of inappropriate secretion of antidiuretic hormone +MONDO:0006823 Klinefelter syndrome NANDO:2200386 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Klinefelter syndrome +MONDO:0006835 lipoid nephrosis NANDO:1200720 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Minimal change nephrotic syndrome +MONDO:0006835 lipoid nephrosis NANDO:2200112 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Minimal change nephrotic syndrome +MONDO:0006935 pulmonary subvalvular stenosis NANDO:2100092 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subvalvular pulmonary stenosis +MONDO:0006935 pulmonary subvalvular stenosis NANDO:2200276 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subvalvular pulmonary stenosis +MONDO:0006936 pulmonary valve stenosis NANDO:2200304 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary valve stenosis +MONDO:0006947 renovascular hypertension NANDO:2100016 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renovascular hypertension +MONDO:0006947 renovascular hypertension NANDO:2200141 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renovascular hypertension +MONDO:0006987 subvalvular aortic stenosis NANDO:2100093 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subvalvular aortic stenosis +MONDO:0006987 subvalvular aortic stenosis NANDO:2200277 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subvalvular aortic stenosis +MONDO:0007012 variant Creutzfeldt-Jakob disease NANDO:1200194 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Variant Creutzfeldt-Jakob disease +MONDO:0007029 branchio-oto-renal syndrome NANDO:1200675 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Branchio-oto-renal syndrome +MONDO:0007032 prune belly syndrome NANDO:2200185 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Prune belly syndrome +MONDO:0007037 Achondroplasia NANDO:1200877 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Achondroplasia +MONDO:0007037 Achondroplasia NANDO:2201009 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Achondroplasia +MONDO:0007039 neurofibromatosis type 2 NANDO:1200227 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurofibromatosis type 2 +MONDO:0007041 Apert syndrome NANDO:1200667 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Apert syndrome +MONDO:0007041 Apert syndrome NANDO:2200844 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Apert syndrome +MONDO:0007042 Saethre-Chotzen syndrome NANDO:2200848 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Saethre-Chotzen syndrome +MONDO:0007043 Pfeiffer syndrome NANDO:1200668 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pfeiffer syndrome +MONDO:0007043 Pfeiffer syndrome NANDO:2200976 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pfeiffer syndrome +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency NANDO:1200323 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adenosine deaminase deficiency +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency NANDO:2200696 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adenosine deaminase deficiency +MONDO:0007078 Pseudohypoparathyroidism type 1A NANDO:1201075 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoparathyroidism type 1A +MONDO:0007097 Finnish type amyloidosis NANDO:1201063 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial amyloid polyneuropathy type 4 +MONDO:0007099 familial visceral amyloidosis NANDO:2200138 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Amyloid nephropathy +MONDO:0007100 familial amyloid neuropathy NANDO:1200214 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial amyloid polyneuropathy +MONDO:0007100 familial amyloid neuropathy NANDO:1201060 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial amyloid polyneuropathy type 1 +MONDO:0007109 congenital dyserythropoietic anemia type 3 NANDO:1200888 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital dyserythropoietic anemia type III +MONDO:0007113 Angelman syndrome NANDO:1200686 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Angelman syndrome +MONDO:0007113 Angelman syndrome NANDO:2200960 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Angelman syndrome +MONDO:0007130 congenital total pulmonary venous return anomaly NANDO:2200271 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Total anomalous pulmonary venous connection +MONDO:0007140 obsolete antiphospholipid syndrome NANDO:1200271 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Antiphospholipid antibody-related disease +MONDO:0007140 obsolete antiphospholipid syndrome NANDO:2200421 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anti-phospholipid antibody syndrome +MONDO:0007154 arteriovenous malformations of the brain NANDO:2100229 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebral arteriovenous malformation +MONDO:0007154 arteriovenous malformations of the brain NANDO:2200851 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebral arteriovenous malformation +MONDO:0007160 Stickler syndrome type 1 NANDO:2201354 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Stickler syndrome type 1 +MONDO:0007182 Machado-Joseph disease NANDO:1200041 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar ataxia type 3 +MONDO:0007187 nevoid basal cell carcinoma syndrome NANDO:2200828 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gorlin syndrome +MONDO:0007191 Behcet disease NANDO:1200284 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Behcet's disease +MONDO:0007191 Behcet disease NANDO:2200422 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Behcet's disease +MONDO:0007203 blue rubber bleb nevus NANDO:2201027 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Blue rubber bleb nevus syndrome +MONDO:0007256 hepatocellular carcinoma NANDO:2200047 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatocellular carcinoma +MONDO:0007294 central core myopathy NANDO:1200479 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central core disease +MONDO:0007294 central core myopathy NANDO:2200870 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central core disease +MONDO:0007296 spinocerebellar ataxia type 31 NANDO:1200044 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar ataxia type 31 +MONDO:0007315 cherubism NANDO:2200444 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cherubism +MONDO:0007318 Alagille syndrome NANDO:1200918 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alagille syndrome +MONDO:0007318 Alagille syndrome NANDO:1200919 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Typical Alagille syndrome +MONDO:0007318 Alagille syndrome NANDO:2200931 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alagille syndrome +MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type NANDO:2201359 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chondrodysplasia punctata, tibial-metacarpal type +MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 NANDO:1200519 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 8 +MONDO:0007345 aorta coarctation NANDO:2200283 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coarctation of the aorta +MONDO:0007345 aorta coarctation NANDO:2200284 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coarctation complex +MONDO:0007361 C1 inhibitor deficiency NANDO:1200365 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary angioedema +MONDO:0007361 C1 inhibitor deficiency NANDO:2200795 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary angioedema +MONDO:0007363 congenital contractural arachnodactyly NANDO:2201026 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Beals syndrome +MONDO:0007369 hereditary coproporphyria NANDO:1200813 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary coproporphyria +MONDO:0007369 hereditary coproporphyria NANDO:2201264 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary coproporphyria +MONDO:0007403 inherited Creutzfeldt-Jakob disease NANDO:1200189 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial Creutzfeldt-Jakob disease +MONDO:0007404 Cri-du-chat syndrome NANDO:1200684 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 5p deletion syndrome +MONDO:0007404 Cri-du-chat syndrome NANDO:2200961 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 5p- syndrome +MONDO:0007405 Crouzon syndrome NANDO:1200666 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crouzon's syndrome +MONDO:0007405 Crouzon syndrome NANDO:2200845 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crouzon disease +MONDO:0007414 Gorham-Stout disease NANDO:1200878 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphangiomatosis / Gorham-Stout disease +MONDO:0007414 Gorham-Stout disease NANDO:1200880 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO obsolete Gorham disease +MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy NANDO:1200545 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy +MONDO:0007435 dentatorubral-pallidoluysian atrophy NANDO:1200043 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dentatorubropallidoluysian atrophy +MONDO:0007450 neurohypophyseal diabetes insipidus NANDO:2201050 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial central diabetes insipidus +MONDO:0007452 maturity-onset diabetes of the young type 1 NANDO:2200461 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diabetes mellitus type 2 +MONDO:0007452 maturity-onset diabetes of the young type 1 NANDO:2201069 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maturity-onset diabetes of the young type 1 +MONDO:0007453 maturity-onset diabetes of the young type 2 NANDO:2201070 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maturity-onset diabetes of the young type 2 +MONDO:0007492 early-onset generalized limb-onset dystonia NANDO:1200512 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 1 +MONDO:0007492 early-onset generalized limb-onset dystonia NANDO:2100240 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia musculorum deformans +MONDO:0007492 early-onset generalized limb-onset dystonia NANDO:2200884 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia musculorum deformans +MONDO:0007493 torsion dystonia 4 NANDO:1200515 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 4 +MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 NANDO:1200521 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 10 +MONDO:0007495 dystonia 5 NANDO:1200516 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 5 +MONDO:0007496 dystonia 12 NANDO:1200523 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 12 +MONDO:0007496 dystonia 12 NANDO:1200524 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rapid-onset dystonia-parkinsonism +MONDO:0007522 Ehlers-Danlos syndrome, classic type NANDO:1200646 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, classical type +MONDO:0007522 Ehlers-Danlos syndrome, classic type NANDO:2201256 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, classical type +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type NANDO:1200647 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, hypermobility type +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type NANDO:2201257 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, hypermobility type +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type NANDO:1200650 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, arthrochalasis type +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type NANDO:2201260 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, arthrochalasis type +MONDO:0007534 Beckwith-Wiedemann syndrome NANDO:2200959 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Beckwith-Wiedemann syndrome +MONDO:0007540 multiple endocrine neoplasia type 1 NANDO:2200405 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple endocrine neoplasia type 1 +MONDO:0007542 Camurati-Engelmann disease NANDO:2200970 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Camurati-Engelmann disease +MONDO:0007606 fibrodysplasia ossificans progressiva NANDO:1200871 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fibrodysplasia ossificans progressiva +MONDO:0007606 fibrodysplasia ossificans progressiva NANDO:2201020 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fibrodysplasia ossificans progressiva +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome NANDO:1200190 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gerstmann-Straussler-Scheinker syndrome +MONDO:0007669 renal cysts and diabetes syndrome NANDO:2201073 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maturity-onset diabetes of the young type 5 +MONDO:0007671 fibronectin glomerulopathy NANDO:2200133 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glomerulopathy with fibronectin deposits, fibronectin nephropathy +MONDO:0007691 Guillain-Barre syndrome, familial NANDO:1200030 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0007691 Guillain-Barre syndrome, familial NANDO:2100251 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0007691 Guillain-Barre syndrome, familial NANDO:2200905 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0007699 Hashimoto thyroiditis NANDO:2200335 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hashimoto disease +MONDO:0007708 Kasabach-Merritt syndrome NANDO:2100297 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kasabach-Merritt syndrome +MONDO:0007708 Kasabach-Merritt syndrome NANDO:2201035 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kasabach-Merritt syndrome +MONDO:0007727 autosomal dominant familial periodic fever NANDO:1200472 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO TNF receptor-associated periodic fever syndrome +MONDO:0007727 autosomal dominant familial periodic fever NANDO:2200433 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO TNF receptor-associated periodic fever syndrome +MONDO:0007739 Huntington disease NANDO:1200012 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Huntington's disease +MONDO:0007741 congenital hydronephrosis NANDO:2200176 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ureteropelvic junction obstruction +MONDO:0007750 hypercholesterolemia, familial, 1 NANDO:2200602 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial hypercholesterolemia +MONDO:0007793 hypochondroplasia NANDO:2201010 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypochondroplasia +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia NANDO:1200382 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic hypogonadotropic hypogonadism +MONDO:0007803 multiple system atrophy NANDO:1200034 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple system atrophy +MONDO:0007813 superficial epidermolytic ichthyosis NANDO:1200613 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Superficial epidermolytic ichthyosis +MONDO:0007813 superficial epidermolytic ichthyosis NANDO:2200990 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Superficial epidermolytic ichthyosis +MONDO:0007827 inclusion body myositis NANDO:1200032 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sporadic inclusion body myositis +MONDO:0007827 inclusion body myositis NANDO:1200218 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Distal myopathy with rimmed vacuoles +MONDO:0007864 angioosteohypertrophic syndrome NANDO:1200884 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Klippel-Trenaunay-Weber syndrome +MONDO:0007864 angioosteohypertrophic syndrome NANDO:2201030 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Klippel-Trenaunay-Weber syndrome +MONDO:0007875 Larsen syndrome NANDO:2201019 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Larsen syndrome +MONDO:0007879 larynx atresia NANDO:2200190 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Laryngeal stenosis +MONDO:0007895 platyspondylic dysplasia, Torrance type NANDO:2201347 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Platyspondylic dysplasia, Torrance type +MONDO:0007896 acute monocytic leukemia NANDO:2200008 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute monocytic leukemia +MONDO:0007896 acute monocytic leukemia NANDO:2200009 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute monocytic leukemia +MONDO:0007915 systemic lupus erythematosus NANDO:1200272 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic lupus erythematosus +MONDO:0007915 systemic lupus erythematosus NANDO:2200416 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic lupus erythematosus +MONDO:0007947 Marfan syndrome NANDO:1200644 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Marfan syndrome +MONDO:0007947 Marfan syndrome NANDO:2200968 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Marfan syndrome +MONDO:0007954 obsolete May-Hegglin anomaly NANDO:1200893 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epstein syndrome +MONDO:0007954 obsolete May-Hegglin anomaly NANDO:2100193 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO May-Hegglin anomaly +MONDO:0007954 obsolete May-Hegglin anomaly NANDO:2200127 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epstein syndrome +MONDO:0007954 obsolete May-Hegglin anomaly NANDO:2200654 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO May-Hegglin anomaly +MONDO:0007959 medulloblastoma NANDO:2200090 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Medulloblastoma +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome NANDO:1200459 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megacystis-microcolon-intestinal hypoperistalsis syndrome +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome NANDO:2200947 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megacystis-microcolon-intestinal hypoperistalsis syndrome +MONDO:0007970 melorheostosis NANDO:2201364 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Melorheostosis +MONDO:0007987 Kniest dysplasia NANDO:2201350 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kniest dysplasia +MONDO:0008006 Mobius syndrome NANDO:1200559 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Moebius syndrome +MONDO:0008006 Mobius syndrome NANDO:2200980 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Moebius syndrome +MONDO:0008029 Bethlem myopathy NANDO:1200220 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bethlem Myopathy +MONDO:0008039 tropical spastic paraparesis NANDO:1200206 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO HTLV-1-associated myelopathy +MONDO:0008054 juvenile dermatomyositis NANDO:2200418 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile dermatomyositis +MONDO:0008061 nail-patella syndrome NANDO:1200967 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nail-patella syndrome +MONDO:0008061 nail-patella syndrome NANDO:2200132 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nail-patella syndrome +MONDO:0008082 multiple endocrine neoplasia type 2B NANDO:2201053 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple endocrine neoplasia type 2B +MONDO:0008090 cyclic hematopoiesis NANDO:1200354 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cyclic neutropenia +MONDO:0008090 cyclic hematopoiesis NANDO:2200746 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cyclic neutropenia +MONDO:0008116 oculopharyngeal muscular dystrophy NANDO:1200493 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oculopharyngeal muscular dystrophy +MONDO:0008119 spinocerebellar ataxia type 1 NANDO:1200045 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar ataxia type 1 +MONDO:0008120 obsolete spinocerebellar ataxia type 7 NANDO:1200047 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar ataxia type 7 +MONDO:0008145 Ollier disease NANDO:2200049 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteochondromatosis +MONDO:0008145 Ollier disease NANDO:2201015 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Enchondromatosis +MONDO:0008185 hereditary chronic pancreatitis NANDO:1200921 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary pancreatitis +MONDO:0008185 hereditary chronic pancreatitis NANDO:2200942 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary pancreatitis +MONDO:0008195 paramyotonia congenita of Von Eulenburg NANDO:1200501 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Paramyotonia congenita +MONDO:0008201 Perry syndrome NANDO:1200547 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Perry syndrome +MONDO:0008218 Hailey-Hailey disease NANDO:1200631 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Benign familial pemphigus +MONDO:0008219 pemphigus vulgaris NANDO:1200229 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pemphigus vulgaris +MONDO:0008221 prolidase deficiency NANDO:2200472 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Prolidase deficiency +MONDO:0008222 Andersen-Tawil syndrome NANDO:1200827 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type IV +MONDO:0008223 hypokalemic periodic paralysis NANDO:1200503 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary hypokalemic periodic paralysis +MONDO:0008224 hyperkalemic periodic paralysis NANDO:1200504 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary hyperkalemic periodic paralysis +MONDO:0008234 multiple endocrine neoplasia type 2A NANDO:2200406 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple endocrine neoplasia type 2 +MONDO:0008234 multiple endocrine neoplasia type 2A NANDO:2201052 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple endocrine neoplasia type 2A +MONDO:0008260 Kindler syndrome NANDO:1200239 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kindler syndrome +MONDO:0008280 Peutz-Jeghers syndrome NANDO:2200917 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peutz-Jeghers syndrome +MONDO:0008283 Cronkhite-Canada syndrome NANDO:1200901 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cronkhite-Canada syndrome +MONDO:0008294 acute intermittent porphyria NANDO:1200812 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute intermittent porphyria +MONDO:0008294 acute intermittent porphyria NANDO:2201263 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute intermittent porphyria +MONDO:0008297 variegate porphyria NANDO:1200814 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Variegate porphyria +MONDO:0008297 variegate porphyria NANDO:2201265 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Variegate porphyria +MONDO:0008300 Prader-Willi syndrome NANDO:1200678 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Prader-Willi syndrome +MONDO:0008300 Prader-Willi syndrome NANDO:2200411 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Prader-Willi syndrome +MONDO:0008310 Hutchinson-Gilford progeria syndrome NANDO:1201007 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hutchinson-Gilford syndrome +MONDO:0008310 Hutchinson-Gilford progeria syndrome NANDO:2200833 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hutchinson-Gilford syndrome +MONDO:0008319 protoporphyria, erythropoietic, 1 NANDO:1200815 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Erythropoietic protoporphyria +MONDO:0008319 protoporphyria, erythropoietic, 1 NANDO:2201266 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Erythropoietic protoporphyria +MONDO:0008322 pseudoachondroplasia NANDO:2201018 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudoachondroplasia +MONDO:0008323 Liddle syndrome NANDO:2100131 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Liddle syndrome +MONDO:0008323 Liddle syndrome NANDO:2200363 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Liddle syndrome +MONDO:0008332 platelet-type von Willebrand disease NANDO:2200668 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Platelet-type von Willebrand disease +MONDO:0008343 pulmonary atresia with ventricular septal defect NANDO:1200708 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary atresia with ventricular septal defect +MONDO:0008343 pulmonary atresia with ventricular septal defect NANDO:2200252 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary atresia with ventricular septal defect +MONDO:0008345 obsolete idiopathic pulmonary fibrosis NANDO:1200417 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic pulmonary fibrosis +MONDO:0008346 pulmonary hemosiderosis NANDO:1200751 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alveolar hypoventilation syndrome +MONDO:0008346 pulmonary hemosiderosis NANDO:2100037 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic pulmonary hemosiderosis +MONDO:0008346 pulmonary hemosiderosis NANDO:2200207 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic pulmonary hemosiderosis +MONDO:0008367 red cell phospholipid defect with hemolysis NANDO:2200634 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Xerocytosis with high phosphatidylcholine hemolytic anemia +MONDO:0008380 retinoblastoma NANDO:2200042 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Retinoblastoma +MONDO:0008428 septooptic dysplasia NANDO:1200560 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Septo-optic dysplasia / De Morsier syndrome +MONDO:0008428 septooptic dysplasia NANDO:1200561 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Septo-optic dysplasia +MONDO:0008428 septooptic dysplasia NANDO:2200820 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Septo-optic dysplasia +MONDO:0008434 Smith-Magenis syndrome NANDO:1200687 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Smith-Magenis syndrome +MONDO:0008434 Smith-Magenis syndrome NANDO:2200954 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Smith-Magenis syndrome +MONDO:0008457 spinocerebellar ataxia type 6 NANDO:1200042 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar ataxia type 6 +MONDO:0008458 spinocerebellar ataxia type 2 NANDO:1200046 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar ataxia type 2 +MONDO:0008471 spondyloepiphyseal dysplasia congenita NANDO:2201348 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spondyloepiphyseal dysplasia congenita +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type NANDO:2201349 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spondyloepimetaphyseal dysplasia, Strudwick type +MONDO:0008487 polycystic ovary syndrome NANDO:2100149 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polycystic ovary syndrome +MONDO:0008487 polycystic ovary syndrome NANDO:2200409 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polycystic ovary syndrome +MONDO:0008501 Sturge-Weber syndrome NANDO:1200606 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sturge-Weber syndrome +MONDO:0008501 Sturge-Weber syndrome NANDO:2200830 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sturge-Weber syndrome +MONDO:0008503 Worster-Drought syndrome NANDO:1200558 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital suprabulbar paresis +MONDO:0008504 supravalvular aortic stenosis NANDO:2200285 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Supravalvular aortic stenosis +MONDO:0008523 Blau syndrome NANDO:1200476 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Blau syndrome +MONDO:0008523 Blau syndrome NANDO:2200434 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Blau syndrome, early onset sarcoidosis +MONDO:0008538 temporal arteritis NANDO:1200258 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Giant cell arteritis +MONDO:0008538 temporal arteritis NANDO:1200259 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cranial giant cell arteritis +MONDO:0008538 temporal arteritis NANDO:1200260 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Large-vessel giant cell arteritis +MONDO:0008542 tetralogy of fallot NANDO:1200709 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tetralogy of Fallot +MONDO:0008542 tetralogy of fallot NANDO:2100075 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tetralogy of Fallot +MONDO:0008542 tetralogy of fallot NANDO:2200254 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tetralogy of Fallot +MONDO:0008546 thanatophoric dysplasia type 1 NANDO:1200875 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thanatophoric dysplasia type 1 +MONDO:0008547 thanatophoric dysplasia type 2 NANDO:1200876 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thanatophoric dysplasia type 2 +MONDO:0008555 thrombocytopenia 2 NANDO:2200663 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal dominant thrombocytopenia 2 +MONDO:0008556 thrombocytopenia, cyclic NANDO:2100192 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cyclic thrombocytopenia +MONDO:0008556 thrombocytopenia, cyclic NANDO:2200653 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cyclic thrombocytopenia +MONDO:0008558 autoimmune thrombocytopenic purpura NANDO:1200315 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic thrombocytopenic purpura +MONDO:0008558 autoimmune thrombocytopenic purpura NANDO:2200645 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Immune thrombocytopenic purpura +MONDO:0008564 DiGeorge syndrome NANDO:1200339 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thymus hypoplasia +MONDO:0008564 DiGeorge syndrome NANDO:1200688 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 22q11.2 deletion syndrome +MONDO:0008564 DiGeorge syndrome NANDO:2200712 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thymus hypoplasia +MONDO:0008608 Down syndrome NANDO:2200965 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Down syndrome +MONDO:0008628 ureterocele NANDO:2200183 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ureteroceles +MONDO:0008633 Muckle-Wells syndrome NANDO:1200467 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Muckle-Wells syndrome +MONDO:0008633 Muckle-Wells syndrome NANDO:2201067 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Muckle-Wells syndrome +MONDO:0008642 VACTERL/vater association NANDO:1200657 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO VATER syndrome +MONDO:0008642 VACTERL/vater association NANDO:2200983 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO VATER syndrome +MONDO:0008644 velocardiofacial syndrome NANDO:1200339 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thymus hypoplasia +MONDO:0008644 velocardiofacial syndrome NANDO:1200688 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 22q11.2 deletion syndrome +MONDO:0008644 velocardiofacial syndrome NANDO:2200712 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thymus hypoplasia +MONDO:0008667 von Hippel-Lindau disease NANDO:2200408 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Von Hippel-Lindau disease +MONDO:0008667 von Hippel-Lindau disease NANDO:2200829 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO von Hippel-Lindau disease +MONDO:0008674 obsolete WHIM syndrome NANDO:2200767 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO WHIM syndrome +MONDO:0008678 Williams syndrome NANDO:1200664 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Williams syndrome +MONDO:0008678 Williams syndrome NANDO:2200286 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Williams syndrome +MONDO:0008682 Denys-Drash syndrome NANDO:2200116 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Denys-Drash syndrome +MONDO:0008684 Wolf-Hirschhorn syndrome NANDO:1200683 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 4p deletion syndrome +MONDO:0008684 Wolf-Hirschhorn syndrome NANDO:2200962 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 4p- Syndrome +MONDO:0008685 Wolff-Parkinson-White syndrome NANDO:2200217 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Supraventricular tachycardia due to WPW syndrome +MONDO:0008692 abetalipoproteinemia NANDO:1200857 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Abetalipoproteinemia +MONDO:0008692 abetalipoproteinemia NANDO:2200604 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Abetalipoproteinemia +MONDO:0008695 chorea-acanthocytosis NANDO:1200014 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chorea-acanthocytosis +MONDO:0008702 achondrogenesis type II NANDO:2201345 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Achondrogenesis type 2 +MONDO:0008703 acromesomelic dysplasia 2A NANDO:2201345 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Achondrogenesis type 2 +MONDO:0008703 acromesomelic dysplasia 2A NANDO:2201346 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypochondrogenesis +MONDO:0008713 acrodermatitis enteropathica NANDO:2200584 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acrodermatitis enteropathica +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency NANDO:2200513 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Medium-chain acyl-CoA dehydrogenase deficiency +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency NANDO:2200514 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Short-chain acyl-CoA dehydrogenase deficiency +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency NANDO:2200512 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Very-long-chain acyl-CoA dehydrogenase deficiency +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency NANDO:2201139 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency NANDO:1200398 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3-β-Hydroxysteroid dehydrogenase deficiency +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency NANDO:2200371 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3 beta-hydroxysteroid dehydrogenase deficiency +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency NANDO:1200399 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 21-Hydroxylase deficiency +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency NANDO:2200374 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 21-Hydroxylase deficiency +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency NANDO:1200400 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 11-β-Hydroxylase deficiency +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency NANDO:2200372 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 11-β-Hydroxylase deficiency +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency NANDO:1200401 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 17-α-Hydroxylase deficiency +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency NANDO:2200373 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 17 alpha-hydroxylase deficiency +MONDO:0008737 congenital afibrinogenemia NANDO:2200672 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Afibrinogenemia +MONDO:0008738 aganglionosis, total intestinal NANDO:1200460 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital isolated hypoganglionosis +MONDO:0008738 aganglionosis, total intestinal NANDO:2200948 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital Isolated Hypoganglionosis +MONDO:0008749 pseudohypoparathyroidism type 2 NANDO:1201078 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoparathyroidism type 2 +MONDO:0008752 Alexander disease NANDO:1200554 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alexander disease +MONDO:0008752 Alexander disease NANDO:2200835 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alexander disease +MONDO:0008753 alkaptonuria NANDO:2200504 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alkaptonuria +MONDO:0008760 beta-ketothiolase deficiency NANDO:1200987 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Beta-ketothiolase deficiency +MONDO:0008760 beta-ketothiolase deficiency NANDO:2200493 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Beta-ketothiolase deficiency +MONDO:0008769 neuronal ceroid lipofuscinosis 2 NANDO:1200153 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Late infantile neuronal ceroid lipofuscinosis +MONDO:0008769 neuronal ceroid lipofuscinosis 2 NANDO:2201242 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Late infantile neuronal ceroid lipofuscinosis +MONDO:0008777 gelatinous drop-like corneal dystrophy NANDO:1201006 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gelatinous drop-like corneal dystrophy +MONDO:0008783 Tangier disease NANDO:1200854 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tangier disease +MONDO:0008803 Antley-Bixler syndrome NANDO:1200669 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Antley-Bixler syndrome +MONDO:0008803 Antley-Bixler syndrome NANDO:2200975 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Antley-Bixler syndrome +MONDO:0008814 hyperargininemia NANDO:1200807 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Argininemia +MONDO:0008814 hyperargininemia NANDO:2200482 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperargininemia +MONDO:0008815 argininosuccinic aciduria NANDO:1200806 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Argininosuccinic aciduria +MONDO:0008815 argininosuccinic aciduria NANDO:2200481 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Argininosuccinic aciduria +MONDO:0008830 aspartylglucosaminuria NANDO:1200133 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aspartylglucosaminuria +MONDO:0008830 aspartylglucosaminuria NANDO:2200555 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aspartylglucosaminuria +MONDO:0008840 ataxia telangiectasia NANDO:1200331 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ataxia telangiectasia +MONDO:0008840 ataxia telangiectasia NANDO:2200705 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ataxia telangiectasia +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia NANDO:1200051 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ataxia-oculomotor apraxia type 1 +MONDO:0008846 atransferrinemia NANDO:2100180 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital atransferrinemia +MONDO:0008846 atransferrinemia NANDO:2200617 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital atransferrinemia +MONDO:0008852 obsolete congenital central hypoventilation syndrome NANDO:1200753 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital central hypoventilation syndrome +MONDO:0008852 obsolete congenital central hypoventilation syndrome NANDO:2100032 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital central hypoventilation syndrome +MONDO:0008852 obsolete congenital central hypoventilation syndrome NANDO:2200198 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital central hypoventilation syndrome +MONDO:0008855 MHC class II deficiency NANDO:1200329 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MHC class II deficiency +MONDO:0008855 MHC class II deficiency NANDO:2200702 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MHC class II deficiency +MONDO:0008863 sitosterolemia NANDO:1200853 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sitosterolemia +MONDO:0008867 biliary atresia NANDO:1200913 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Biliary atresia +MONDO:0008867 biliary atresia NANDO:2200930 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO biliary atresia +MONDO:0008876 Bloom syndrome NANDO:1200333 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bloom syndrome +MONDO:0008876 Bloom syndrome NANDO:2200707 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bloom syndrome +MONDO:0008888 Williams-Campbell syndrome NANDO:2201040 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchomalacia +MONDO:0008889 thromboangiitis obliterans NANDO:1200266 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Buerger's disease +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 NANDO:1201043 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive familial intrahepatic cholestasis type 1 +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency NANDO:2200773 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CARD9 deficiency +MONDO:0008918 carnitine-acylcarnitine translocase deficiency NANDO:1200972 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carnitine-acylcarnitine translocase deficiency +MONDO:0008918 carnitine-acylcarnitine translocase deficiency NANDO:2200511 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carnitine-acylcarnitine translocase deficiency +MONDO:0008919 systemic primary carnitine deficiency disease NANDO:1200973 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic primary carnitine deficiency +MONDO:0008919 systemic primary carnitine deficiency disease NANDO:2200508 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Organic cation transporter 2 deficiency +MONDO:0008947 bilateral striopallidodentate calcinosis NANDO:1200207 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic basal ganglia calcification +MONDO:0008948 cerebrotendinous xanthomatosis NANDO:1200856 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebrotendinous xanthomatosis +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis NANDO:1200151 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital neuronal ceroid lipofuscinosis +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis NANDO:2201240 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital neuronal ceroid lipofuscinosis +MONDO:0008963 Chediak-Higashi syndrome NANDO:1200350 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chédiak-Higashi syndrome +MONDO:0008963 Chediak-Higashi syndrome NANDO:1200639 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chédiak-Higashi syndrome +MONDO:0008963 Chediak-Higashi syndrome NANDO:2200724 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chédiak-Higashi syndrome +MONDO:0008965 CHARGE syndrome NANDO:1200464 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CHARGE syndrome +MONDO:0008965 CHARGE syndrome NANDO:2200972 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CHARGE syndrome +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 NANDO:1200763 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rhizomelic chondrodysplasia punctata type 1 +MONDO:0008974 Greenberg dysplasia NANDO:2201361 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Greenberg dysplasia +MONDO:0008977 chondrosarcoma NANDO:2200050 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chondrosarcoma +MONDO:0008978 chordoma NANDO:2200098 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chordoma +MONDO:0008982 central areolar choroidal dystrophy NANDO:1200939 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central areolar choroidal dystrophy +MONDO:0008988 citrullinemia type I NANDO:1200805 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Classic citrullinemia +MONDO:0008988 citrullinemia type I NANDO:2200480 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Argininosuccinate synthetase deficiency +MONDO:0008996 obsolete COACH syndrome 1 NANDO:1201050 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO COACH syndrome +MONDO:0008999 Cohen syndrome NANDO:2200750 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cohen syndrome +MONDO:0009006 complement component 2 deficiency NANDO:2200781 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO C2 deficiency +MONDO:0009010 aortic arch interruption NANDO:2200288 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Interruption of aortic arch complex +MONDO:0009025 apparent mineralocorticoid excess NANDO:2100130 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Apparent mineralocorticoid excess syndrome +MONDO:0009025 apparent mineralocorticoid excess NANDO:2200362 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Apparent mineralocorticoid excess syndrome +MONDO:0009026 Costello syndrome NANDO:1200463 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Costello syndrome +MONDO:0009026 Costello syndrome NANDO:2200971 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Costello syndrome +MONDO:0009031 craniodiaphyseal dysplasia NANDO:2201368 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Craniodiaphyseal dysplasia +MONDO:0009039 Baller-Gerold syndrome NANDO:1201059 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Baller-Gerold syndrome +MONDO:0009044 Crigler-Najjar syndrome NANDO:2100272 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crigler-Najjar syndrome +MONDO:0009044 Crigler-Najjar syndrome NANDO:2200941 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crigler-Najjar syndrome +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia NANDO:2200353 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ACTH-independent macronodular adrenal hyperplasia +MONDO:0009050 Cushing disease due to pituitary adenoma NANDO:1200379 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cushing disease +MONDO:0009050 Cushing disease due to pituitary adenoma NANDO:2200350 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cushing disease +MONDO:0009061 cystic fibrosis NANDO:1200922 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cystic fibrosis +MONDO:0009061 cystic fibrosis NANDO:1201021 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cystic fibrosis +MONDO:0009061 cystic fibrosis NANDO:2100035 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cystic fibrosis +MONDO:0009061 cystic fibrosis NANDO:2200205 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cystic fibrosis +MONDO:0009064 ocular cystinosis NANDO:1200164 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-nephropathic cystinosis +MONDO:0009064 ocular cystinosis NANDO:2201236 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-nephropathic cystinosis +MONDO:0009066 juvenile nephropathic cystinosis NANDO:1200163 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intermediate cystinosis +MONDO:0009066 juvenile nephropathic cystinosis NANDO:2201235 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intermediate cystinosis +MONDO:0009067 cystinuria NANDO:2200489 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cystinuria +MONDO:0009072 Dandy-Walker syndrome NANDO:2200821 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dandy-Walker syndrome +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly NANDO:1200658 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nasu-Hakola disease +MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia NANDO:1200546 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary diffuse leukoencephalopathy with spheroid +MONDO:0009109 lysinuric protein intolerance NANDO:1200809 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lysinuric protein intolerance +MONDO:0009109 lysinuric protein intolerance NANDO:2200488 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lysinuric protein intolerance +MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 NANDO:1200771 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rhizomelic chondrodysplasia punctata type 2 +MONDO:0009114 congenital sucrase-isomaltase deficiency NANDO:2200908 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital sucrase-isomaltase deficiency +MONDO:0009116 obsolete lactose intolerance NANDO:2200907 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lactose intolerance +MONDO:0009123 orthostatic hypotension 1 NANDO:2200597 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dopamine beta hydroxylase deficiency +MONDO:0009134 congenital dyserythropoietic anemia type 2 NANDO:1200887 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital dyserythropoietic anemia type II +MONDO:0009138 dysosteosclerosis NANDO:2201365 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dysosteosclerosis +MONDO:0009141 torsion dystonia 2 NANDO:1200513 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 2 +MONDO:0009144 Ebstein anomaly NANDO:1200711 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ebstein's anomaly +MONDO:0009144 Ebstein anomaly NANDO:2100080 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ebstein's anomaly +MONDO:0009144 Ebstein anomaly NANDO:2200260 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ebstein's anomaly +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type NANDO:1200651 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, dermatosparaxis type +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type NANDO:2201261 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, dermatosparaxis type +MONDO:0009169 endocardial fibroelastosis NANDO:2100060 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Endocardial fibroelastosis +MONDO:0009169 endocardial fibroelastosis NANDO:2200235 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Endocardial fibroelastosis +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency NANDO:2200910 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Enterokinase deficiency +MONDO:0009176 epidermodysplasia verruciformis NANDO:2200768 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epidermodysplasia verruciformis +MONDO:0009179 recessive dystrophic epidermolysis bullosa NANDO:1200238 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Recessive dystrophic epidermolysis bullosa +MONDO:0009179 recessive dystrophic epidermolysis bullosa NANDO:2201383 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Recessive dystrophic epidermolysis bullosa, generalized severe +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type NANDO:1201066 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-Herlitz junctional epidermolysis bullosa +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type NANDO:2201379 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-Herlitz junctional epidermolysis bullosa +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy NANDO:2201376 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epidermolysis bullosa simplex with muscular dystrophy +MONDO:0009182 junctional epidermolysis bullosa Herlitz type NANDO:1201065 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Herlitz junctional epidermolysis bullosa +MONDO:0009182 junctional epidermolysis bullosa Herlitz type NANDO:2200119 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Herlitz junctional epidermolysis bullosa +MONDO:0009182 junctional epidermolysis bullosa Herlitz type NANDO:2201378 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Herlitz junctional epidermolysis bullosa +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia NANDO:2201380 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Junctional epidermolysis bullosa with pyloric atresia +MONDO:0009194 immunodeficiency 32B NANDO:2200808 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic active EB virus infection +MONDO:0009218 Farber lipogranulomatosis NANDO:1200086 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Farber disease +MONDO:0009218 Farber lipogranulomatosis NANDO:2200565 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Farber disease +MONDO:0009234 congenital high-molecular-weight kininogen deficiency NANDO:2200685 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO High molecular weight kininogen deficiency +MONDO:0009238 hereditary folate malabsorption NANDO:1200810 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary folate malabsorption +MONDO:0009238 hereditary folate malabsorption NANDO:2200592 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary folate malabsorption +MONDO:0009249 hereditary fructose intolerance NANDO:2200531 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary fructose intolerance +MONDO:0009251 fructose-1,6-bisphosphatase deficiency NANDO:2200535 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fructose-1,6-bisphosphatase deficiency +MONDO:0009254 fucosidosis NANDO:1200130 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fucosidosis +MONDO:0009254 fucosidosis NANDO:2200553 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fucosidosis +MONDO:0009255 galactokinase deficiency NANDO:2200533 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galactokinase deficiency +MONDO:0009257 galactose epimerase deficiency NANDO:2200534 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO UDP-galactose-4-epimerase deficiency +MONDO:0009258 classic galactosemia NANDO:1200851 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galactose-1-phosphate uridyltransferase deficiency +MONDO:0009258 classic galactosemia NANDO:2200532 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galactose-1-phosphate uridyltransferase deficiency +MONDO:0009260 GM1 gangliosidosis type 1 NANDO:1200067 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile GM1 gangliosidosis +MONDO:0009260 GM1 gangliosidosis type 1 NANDO:2201196 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM1 gangliosidosis, infantile form +MONDO:0009261 GM1 gangliosidosis type 2 NANDO:1200068 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile GM1 gangliosidosis +MONDO:0009261 GM1 gangliosidosis type 2 NANDO:2201197 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM1 gangliosidosis, juvenile form +MONDO:0009262 GM1 gangliosidosis type 3 NANDO:1200069 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult GM1 gangliosidosis +MONDO:0009262 GM1 gangliosidosis type 3 NANDO:2201198 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM1 gangliosidosis, adult form +MONDO:0009265 Gaucher disease type I NANDO:1200057 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gaucher disease type 1 +MONDO:0009265 Gaucher disease type I NANDO:2201210 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gaucher disease type 1 +MONDO:0009266 Gaucher disease type II NANDO:1200058 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gaucher disease type 2 +MONDO:0009266 Gaucher disease type II NANDO:2201211 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gaucher disease type 2 +MONDO:0009267 Gaucher disease type III NANDO:1200059 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gaucher disease type 3 +MONDO:0009267 Gaucher disease type III NANDO:2201212 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gaucher disease type 3 +MONDO:0009276 Bernard-Soulier syndrome NANDO:2200656 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bernard-Soulier syndrome +MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency NANDO:2200516 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3-hydroxy acyl-CoA dehydrogenase deficiency +MONDO:0009279 triple-A syndrome NANDO:1200410 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Allgrove syndrome +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency NANDO:1200800 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glutaric acidemia type 1 +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency NANDO:2200501 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glutaric acidemia type 1 +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency NANDO:1200801 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glutaric acidemia type 2 +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency NANDO:2200502 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glutaric acidemia type 2 +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA NANDO:2201153 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type 1a +MONDO:0009288 glycogen storage disease Ib NANDO:1200841 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type Ib +MONDO:0009288 glycogen storage disease Ib NANDO:2200754 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type 1b +MONDO:0009288 glycogen storage disease Ib NANDO:2201154 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type 1b +MONDO:0009290 glycogen storage disease II NANDO:1200138 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pompe disease +MONDO:0009290 glycogen storage disease II NANDO:1200825 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type II +MONDO:0009290 glycogen storage disease II NANDO:2200569 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pompe disease +MONDO:0009291 glycogen storage disease III NANDO:1200826 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type III +MONDO:0009291 glycogen storage disease III NANDO:1200844 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic GSD type IIIc +MONDO:0009291 glycogen storage disease III NANDO:1201019 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type III +MONDO:0009291 glycogen storage disease III NANDO:2200539 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type III +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency NANDO:1200827 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type IV +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency NANDO:1200850 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type IV +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency NANDO:2200540 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IV +MONDO:0009293 glycogen storage disease V NANDO:1200828 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type V +MONDO:0009293 glycogen storage disease V NANDO:2200541 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type V +MONDO:0009294 glycogen storage disease VI NANDO:1200846 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type VI +MONDO:0009294 glycogen storage disease VI NANDO:2200542 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type VI +MONDO:0009295 glycogen storage disease VII NANDO:1200823 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Muscle glycogen storage disease +MONDO:0009295 glycogen storage disease VII NANDO:1200829 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type VII +MONDO:0009295 glycogen storage disease VII NANDO:2200543 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type VII +MONDO:0009299 46 XX gonadal dysgenesis NANDO:2200384 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ovarian dysgenesis +MONDO:0009303 anti-glomerular basement membrane disease NANDO:1200717 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anti-GBM rapidly progressive glomerulonephritis +MONDO:0009303 anti-glomerular basement membrane disease NANDO:1200718 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Goodpasture syndrome +MONDO:0009303 anti-glomerular basement membrane disease NANDO:2200125 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Goodpasture syndrome +MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NANDO:2201280 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO p22phox-deficient chronic granulomatous disease +MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 NANDO:2201281 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO p47phox-deficient chronic granulomatous disease +MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 NANDO:2201282 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO p67phox-deficient chronic granulomatous disease +MONDO:0009315 congenital factor XII deficiency NANDO:2200680 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor XII deficiency +MONDO:0009318 Hallermann-Streiff syndrome NANDO:2200973 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hallermann-Streiff syndrome +MONDO:0009319 pantothenate kinase-associated neurodegeneration NANDO:1200534 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurodegeneration with brain iron accumulation type 1 +MONDO:0009319 pantothenate kinase-associated neurodegeneration NANDO:2200886 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pantothenate kinase-associated neurodegeneration +MONDO:0009324 Hartnup disease NANDO:2200487 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hartnup disease +MONDO:0009326 congenital heart block NANDO:2200214 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete atrio-ventricular block +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome NANDO:1200341 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic veno-occlusive disease with immunodeficiency +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome NANDO:2200714 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic veno-occlusive disease with immunodeficiency +MONDO:0009341 Mowat-Wilson syndrome NANDO:1200663 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mowat-Wilson syndrome +MONDO:0009341 Mowat-Wilson syndrome NANDO:2200981 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mowat-Wilson syndrome +MONDO:0009352 classic homocystinuria NANDO:1201039 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Homocystinuria type 1 +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency NANDO:1201041 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Homocystinuria type 3 +MONDO:0009354 methylcobalamin deficiency type cblE NANDO:2201109 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylcobalamin deficiency cblE type +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease NANDO:1200803 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carbamoyl phosphate synthetase I deficiency +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease NANDO:2200478 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carbamoylphosphate synthetase deficiency +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency NANDO:1200808 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO NAGS deficiency +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency NANDO:2200477 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO N-acetylglutamate synthetase deficiency +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency NANDO:2201084 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Presymptomatic N-acetylglutamate synthetase deficiency +MONDO:0009393 ornithine translocase deficiency NANDO:2200485 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +MONDO:0009410 obsolete Addison disease NANDO:1200411 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Addison's disease +MONDO:0009410 obsolete Addison disease NANDO:1200412 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune Addison's disease +MONDO:0009410 obsolete Addison disease NANDO:2200359 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Other chronic adrenal insufficiency +MONDO:0009410 obsolete Addison disease NANDO:2200360 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Addison's disease +MONDO:0009411 autoimmune polyendocrine syndrome type 1 NANDO:2200346 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune polyendocrinopathy type 1 +MONDO:0009411 autoimmune polyendocrine syndrome type 1 NANDO:2200738 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:1200824 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type 0 +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:1200838 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:2200537 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen synthase deficiency +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:2201151 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type 0a +MONDO:0009443 autosomal recessive congenital ichthyosis 4B NANDO:1200614 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Harlequin ichthyosis +MONDO:0009443 autosomal recessive congenital ichthyosis 4B NANDO:2200992 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Harlequin ichthyosis +MONDO:0009458 Schimke immuno-osseous dysplasia NANDO:1200337 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schimke syndrome +MONDO:0009458 Schimke immuno-osseous dysplasia NANDO:2200711 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schimke syndrome +MONDO:0009475 isovaleric acidemia NANDO:1200798 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Isovaleric acidemia +MONDO:0009475 isovaleric acidemia NANDO:2200494 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Isovaleric acidemia +MONDO:0009480 Joubert syndrome with oculorenal defect NANDO:1200662 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Arima syndrome +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency NANDO:2200499 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Succinyl-CoA:3-ketoacid CoA transferase deficiency +MONDO:0009499 Krabbe disease NANDO:1200074 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Krabbe disease +MONDO:0009499 Krabbe disease NANDO:2200564 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Krabbe disease +MONDO:0009509 Landau-Kleffner syndrome NANDO:1200602 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Landau-Kleffner syndrome +MONDO:0009515 Norum disease NANDO:1200852 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lecithin cholesterol acyltransferase deficiency +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria NANDO:2200497 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3-hydroxy-3-methylglutaric acidemia +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria NANDO:2201119 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Presymptomatic 3-hydroxy-3-methylglutaric acidemia +MONDO:0009530 lipoid proteinosis NANDO:2200608 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lipoid proteinosis +MONDO:0009532 Miller-Dieker lissencephaly syndrome NANDO:1201083 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Miller Dieker syndrome +MONDO:0009537 lymphoid interstitial pneumonia NANDO:1200424 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphoid interstitial pneumonia +MONDO:0009561 alpha-mannosidosis NANDO:1200126 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-mannosidosis +MONDO:0009562 beta-mannosidosis NANDO:1200129 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Beta-mannosidosis +MONDO:0009562 beta-mannosidosis NANDO:2201190 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Beta-mannosidosis +MONDO:0009563 maple syrup urine disease NANDO:1200791 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maple syrup urine disease +MONDO:0009563 maple syrup urine disease NANDO:2200473 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maple syrup urine disease +MONDO:0009567 Marinesco-Sjogren syndrome NANDO:1200485 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Marinesco-Sjogren syndrome +MONDO:0009572 autosomal recessive familial Mediterranean fever NANDO:1200864 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Typical familial Mediterranean fever +MONDO:0009578 neurocutaneous melanocytosis NANDO:2200827 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurocutaneous melanosis +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency NANDO:1200082 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Saposin B deficiency +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency NANDO:2201205 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Saposin B deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form NANDO:1200080 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile ｍetachromatic leukodystrophy +MONDO:0009591 metachromatic leukodystrophy, juvenile form NANDO:2201203 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Metachromatic leukodystrophy, juvenile form +MONDO:0009609 methylcobalamin deficiency type cblG NANDO:2201111 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylcobalamin deficiency cblG type +MONDO:0009610 3-methylglutaconic aciduria type 1 NANDO:1200990 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3-methylglutaconic aciduria type I +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NANDO:1200794 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonyl-Coenzyme A mutase deficiency +MONDO:0009613 methylmalonic aciduria, cblA type NANDO:1200795 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia cblA type +MONDO:0009613 methylmalonic aciduria, cblA type NANDO:2201105 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia cblA type +MONDO:0009614 methylmalonic aciduria, cblB type NANDO:1200796 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia cblB type +MONDO:0009614 methylmalonic aciduria, cblB type NANDO:2201106 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia cblB type +MONDO:0009623 Nijmegen breakage syndrome NANDO:1200332 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nijmegen breakage syndrome +MONDO:0009623 Nijmegen breakage syndrome NANDO:2200706 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nijmegen breakage syndrome +MONDO:0009627 Galloway-Mowat syndrome NANDO:1200713 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galloway-Mowat syndrome +MONDO:0009627 Galloway-Mowat syndrome NANDO:2200120 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galloway-Mowat syndrome +MONDO:0009627 Galloway-Mowat syndrome NANDO:2201385 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galloway-Mowat syndrome +MONDO:0009635 microvillus inclusion disease NANDO:2100255 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Microvillus inclusion disease +MONDO:0009635 microvillus inclusion disease NANDO:2200913 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Microvillus inclusion disease +MONDO:0009641 obsolete mitochondrial complex II deficiency NANDO:1200181 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial complex II deficiency +MONDO:0009650 mucolipidosis type II NANDO:1200124 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucolipidosis II +MONDO:0009650 mucolipidosis type II NANDO:2200567 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucolipidosis II +MONDO:0009655 mucopolysaccharidosis type 3A NANDO:1200101 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sanfilippo disease type A +MONDO:0009655 mucopolysaccharidosis type 3A NANDO:2201174 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type III A +MONDO:0009656 mucopolysaccharidosis type 3B NANDO:1200102 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sanfilippo disease type B +MONDO:0009656 mucopolysaccharidosis type 3B NANDO:2201175 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type III B +MONDO:0009657 mucopolysaccharidosis type 3C NANDO:1200103 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sanfilippo disease type C +MONDO:0009657 mucopolysaccharidosis type 3C NANDO:2201176 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type III C +MONDO:0009658 mucopolysaccharidosis type 3D NANDO:1200104 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sanfilippo disease type D +MONDO:0009658 mucopolysaccharidosis type 3D NANDO:2201177 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type III D +MONDO:0009659 mucopolysaccharidosis type 4A NANDO:1200106 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Morquio syndrome type A +MONDO:0009659 mucopolysaccharidosis type 4A NANDO:2201178 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type IV A +MONDO:0009660 mucopolysaccharidosis type 4B NANDO:1200107 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Morquio syndrome type B +MONDO:0009660 mucopolysaccharidosis type 4B NANDO:2201179 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type IV B +MONDO:0009661 mucopolysaccharidosis type 6 NANDO:1200108 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maroteaux-Lamy syndrome +MONDO:0009661 mucopolysaccharidosis type 6 NANDO:1200109 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maroteaux Lamy syndrome, rapidly progressing form +MONDO:0009661 mucopolysaccharidosis type 6 NANDO:1200110 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maroteaux Lamy syndrome, slowly progressing form +MONDO:0009661 mucopolysaccharidosis type 6 NANDO:2200551 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type VI +MONDO:0009662 mucopolysaccharidosis type 7 NANDO:1200111 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sly syndrome +MONDO:0009662 mucopolysaccharidosis type 7 NANDO:2200552 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type VII +MONDO:0009665 biotinidase deficiency NANDO:1200822 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Biotinidase deficiency +MONDO:0009666 holocarboxylase synthetase deficiency NANDO:1200821 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Holocarboxylase synthetase deficiency +MONDO:0009669 spinal muscular atrophy, type 1 NANDO:1200004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal muscular atrophy type I +MONDO:0009672 spinal muscular atrophy, type III NANDO:1200006 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal muscular atrophy type III +MONDO:0009673 spinal muscular atrophy, type II NANDO:1200005 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal muscular atrophy type II +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 NANDO:1200494 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fukuyama type congenital muscular dystrophy +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 NANDO:2200860 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fukuyama type congenital muscular dystrophy +MONDO:0009681 Ullrich congenital muscular dystrophy 1 NANDO:1200215 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ullrich disease +MONDO:0009685 Miyoshi myopathy NANDO:1200217 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Miyoshi myopathy +MONDO:0009688 myasthenia gravis NANDO:1200020 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myasthenia gravis +MONDO:0009688 myasthenia gravis NANDO:2100252 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myasthenia gravis +MONDO:0009688 myasthenia gravis NANDO:2200906 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myasthenia gravis +MONDO:0009689 congenital myasthenic syndrome 6 NANDO:1201057 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital myasthenic syndrome with episodic apnoea +MONDO:0009694 myeloperoxidase deficiency NANDO:1200358 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myeloperoxidase deficiency +MONDO:0009694 myeloperoxidase deficiency NANDO:2200758 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myeloperoxidase deficiency +MONDO:0009697 Lafora disease NANDO:1200955 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lafora disease +MONDO:0009697 Lafora disease NANDO:2200881 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lafora disease +MONDO:0009698 Unverricht-Lundborg syndrome NANDO:1200954 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Unverricht-Lundborg disease +MONDO:0009698 Unverricht-Lundborg syndrome NANDO:2200880 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Unverricht-Lundborg disease +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency NANDO:1200970 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carnitine palmitoyltransferase I deficiency +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency NANDO:2200509 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carnitine palmitoyltransferase I deficiency +MONDO:0009710 Thomsen and Becker disease NANDO:1200497 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myotonia congenita +MONDO:0009710 Thomsen and Becker disease NANDO:1200498 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thomsen disease +MONDO:0009711 congenital fiber-type disproportion myopathy NANDO:1200483 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital fiber-type disproportion myopathy +MONDO:0009711 congenital fiber-type disproportion myopathy NANDO:2200868 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital fiber-type disproportion myopathy +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia NANDO:2200872 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Minicore myopathy +MONDO:0009715 myotonia congenita, autosomal recessive NANDO:1200499 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Becker disease +MONDO:0009717 Schwartz-Jampel syndrome NANDO:1200224 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schwartz-Jampel syndrome +MONDO:0009717 Schwartz-Jampel syndrome NANDO:2100235 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schwartz-Jampel syndrome +MONDO:0009717 Schwartz-Jampel syndrome NANDO:2200876 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schwartz-Jampel syndrome +MONDO:0009723 Leigh syndrome NANDO:1200175 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leigh's encephalomyelopathy +MONDO:0009723 Leigh syndrome NANDO:2200527 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leigh syndrome +MONDO:0009726 proteosome-associated autoinflammatory syndrome NANDO:1200867 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nakajo-Nishimura syndrome +MONDO:0009726 proteosome-associated autoinflammatory syndrome NANDO:2200435 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nakajo-Nishimura syndrome +MONDO:0009728 nephronophthisis 1 NANDO:1201036 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephronophthisis +MONDO:0009728 nephronophthisis 1 NANDO:2200140 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephronophthisis +MONDO:0009732 congenital nephrotic syndrome, Finnish type NANDO:2200110 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital nephrotic syndrome of the Finnish type +MONDO:0009735 Netherton syndrome NANDO:1200338 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Netherton syndrome +MONDO:0009735 Netherton syndrome NANDO:1200619 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Netherton syndrome +MONDO:0009735 Netherton syndrome NANDO:2200993 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Netherton syndrome +MONDO:0009737 galactosialidosis NANDO:1200119 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galactosialidosis +MONDO:0009737 galactosialidosis NANDO:2200557 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galactosialidosis +MONDO:0009738 sialidosis type 2 NANDO:1200118 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sialidosis type 2 +MONDO:0009738 sialidosis type 2 NANDO:1200120 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galactosialidosis, early infantile form +MONDO:0009738 sialidosis type 2 NANDO:2201192 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sialidosis type 2 +MONDO:0009738 sialidosis type 2 NANDO:2201193 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galactosialidosis, early infantile form +MONDO:0009739 obsolete infantile neuroaxonal dystrophy NANDO:2200887 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile neuroaxonal dystrophy +MONDO:0009744 neuronal ceroid lipofuscinosis 1 NANDO:1200152 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile neuronal ceroid lipofuscinosis +MONDO:0009744 neuronal ceroid lipofuscinosis 1 NANDO:2201241 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile neuronal ceroid lipofuscinosis +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 NANDO:1200553 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital insensitivity to pain with anhidrosis +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 NANDO:2200854 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital insensitivity to pain with anhidrosis +MONDO:0009756 Niemann-Pick disease type A NANDO:1200061 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Niemann-Pick disease type A +MONDO:0009756 Niemann-Pick disease type A NANDO:2201206 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Niemann-Pick disease type A +MONDO:0009763 obesity-hypoventilation syndrome NANDO:1200752 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Obesity hypoventilation syndrome +MONDO:0009774 cloacal exstrophy NANDO:1200909 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cloacal exstrophy +MONDO:0009774 cloacal exstrophy NANDO:1200910 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Persistent cloaca +MONDO:0009774 cloacal exstrophy NANDO:2200950 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Persistent cloaca +MONDO:0009774 cloacal exstrophy NANDO:2200951 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cloacal exstrophy +MONDO:0009787 3-methylglutaconic aciduria type 3 NANDO:1200992 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3-methylglutaconic aciduria type III +MONDO:0009796 ornithine aminotransferase deficiency NANDO:2200484 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperornithinemia +MONDO:0009796 ornithine aminotransferase deficiency NANDO:2200486 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gyrate atrophy of choroid and retina +MONDO:0009797 orotic aciduria NANDO:2200590 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Orotic aciduria +MONDO:0009799 obsolete pachydermoperiostosis NANDO:1200642 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pachydermoperiostosis +MONDO:0009799 obsolete pachydermoperiostosis NANDO:2100288 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pachydermoperiostosis +MONDO:0009799 obsolete pachydermoperiostosis NANDO:2201004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pachydermoperiostosis +MONDO:0009807 osteosarcoma NANDO:2200048 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteosarcoma +MONDO:0009813 chronic recurrent multifocal osteomyelitis NANDO:1200869 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic recurrent multifocal osteomyelitis +MONDO:0009813 chronic recurrent multifocal osteomyelitis NANDO:2200438 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic recurrent multifocal osteomyelitis +MONDO:0009823 primary hyperoxaluria type 1 NANDO:1200773 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary hyperoxaluria type 1 +MONDO:0009833 Shwachman-Diamond syndrome NANDO:1200356 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Shwachman-Diamond syndrome +MONDO:0009833 Shwachman-Diamond syndrome NANDO:2200756 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Shwachman-Diamond syndrome +MONDO:0009835 subacute sclerosing panencephalitis NANDO:1200195 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subacute sclerosing panencephalitis +MONDO:0009835 subacute sclerosing panencephalitis NANDO:1200196 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Typical subacute sclerosing panencephalitis +MONDO:0009835 subacute sclerosing panencephalitis NANDO:1200198 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subacute progressive sclerosing panencephalitis +MONDO:0009835 subacute sclerosing panencephalitis NANDO:2100245 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subacute sclerosing panencephalitis +MONDO:0009835 subacute sclerosing panencephalitis NANDO:2200899 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subacute sclerosing panencephalitis +MONDO:0009837 choroid plexus papilloma NANDO:2200093 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Choroid plexus papilloma +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever NANDO:1200866 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper IgD syndrome +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever NANDO:2200436 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper IgD syndrome +MONDO:0009855 d-bifunctional protein deficiency NANDO:1200766 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO D-bifunctional protein deficiency +MONDO:0009861 phenylketonuria NANDO:1200784 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Phenylketonuria +MONDO:0009861 phenylketonuria NANDO:1200785 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Phenylalanine hydroxylase deficiency +MONDO:0009861 phenylketonuria NANDO:2200467 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Phenylketonuria +MONDO:0009861 phenylketonuria NANDO:2201075 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Phenylalanine hydroxylase deficiency +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency NANDO:1200832 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type X +MONDO:0009868 glycogen storage disease IXb NANDO:1200848 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type IXb +MONDO:0009868 glycogen storage disease IXb NANDO:2201165 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IXb +MONDO:0009883 alpha-2-plasmin inhibitor deficiency NANDO:2200687 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-2-plasmin inhibitor deficiency +MONDO:0009885 Scott syndrome NANDO:2200671 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Scott syndrome +MONDO:0009887 desquamative interstitial pneumonia NANDO:1200422 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Desquamative interstitial pneumonia +MONDO:0009887 desquamative interstitial pneumonia NANDO:1200423 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Respiratory bronchiolitis-associated interstitial lung disease +MONDO:0009889 autosomal recessive polycystic kidney disease NANDO:1200369 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal recessive polycystic kidney disease +MONDO:0009889 autosomal recessive polycystic kidney disease NANDO:2200154 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal recessive polycystic kidney disease +MONDO:0009891 acquired polycythemia vera NANDO:2100186 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polycythemia vera +MONDO:0009891 acquired polycythemia vera NANDO:2200643 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polycythemia vera +MONDO:0009897 adult polyglucosan body disease NANDO:2201163 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IV, adult form +MONDO:0009902 cutaneous porphyria NANDO:1200817 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital erythropoietic porphyria +MONDO:0009902 cutaneous porphyria NANDO:2201268 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital erythropoietic porphyria +MONDO:0009904 Gitelman syndrome NANDO:2100020 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gitelman syndrome +MONDO:0009904 Gitelman syndrome NANDO:2200145 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gitelman syndrome +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency NANDO:2200390 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 17 beta-hydroxysteroid dehydrogenase deficiency +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency NANDO:1200765 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peroxisomal acyl-CoA oxidase deficiency +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency NANDO:2200389 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 5 alpha-reductase deficiency +MONDO:0009924 vitamin D-dependent rickets, type 1 NANDO:1200782 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-dependent rickets, type 1 +MONDO:0009928 pulmonary alveolar microlithiasis NANDO:2200202 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary alveolar microlithiasis +MONDO:0009930 obsolete pulmonary arteriovenous malformation NANDO:2200295 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary arteriovenous fistulae +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome NANDO:1200707 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary atresia with intact ventricular septum +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome NANDO:2200253 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary atresia with intact ventricular septum +MONDO:0009937 pulmonary venoocclusive disease NANDO:1200427 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary veno-occlusive disease +MONDO:0009940 pycnodysostosis NANDO:2201023 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pycnodysostosis +MONDO:0009943 Pyle disease NANDO:2201367 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Metaphyseal dysplasias +MONDO:0009948 pyropoikilocytosis, hereditary NANDO:2200631 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary pyropoikilocytosis +MONDO:0009949 pyruvate carboxylase deficiency disease NANDO:2200519 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pyruvate carboxylase deficiency +MONDO:0009950 pyruvate kinase deficiency of red cells NANDO:2200628 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hemolytic anemia due to red cell pyruvate kinase deficiency +MONDO:0009955 rapadilino syndrome NANDO:1201058 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO RAPADILINO syndrome +MONDO:0009958 adult Refsum disease NANDO:1200769 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Refsum disease +MONDO:0009958 adult Refsum disease NANDO:2200577 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Refsum disease +MONDO:0009973 reticular dysgenesis NANDO:1200322 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Reticular dysgenesis +MONDO:0009973 reticular dysgenesis NANDO:2200695 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Reticular dysgenesis +MONDO:0010002 Rothmund-Thomson syndrome NANDO:1200671 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rothmund-Thomson syndrome +MONDO:0010006 Sandhoff disease NANDO:1200072 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sandhoff disease +MONDO:0010006 Sandhoff disease NANDO:2201200 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sandhoff disease +MONDO:0010011 schizencephaly NANDO:1201073 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schizencephaly +MONDO:0010011 schizencephaly NANDO:2200818 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schizencephaly +MONDO:0010012 autoimmune polyendocrinopathy type 2 NANDO:2200347 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune polyendocrinopathy type 2 +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency NANDO:1200327 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Zap-70 deficiency +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency NANDO:2200700 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ZAP-70 deficiency +MONDO:0010027 free sialic acid storage disease, infantile form NANDO:1200147 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile free sialic acid storage disease +MONDO:0010027 free sialic acid storage disease, infantile form NANDO:2201237 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile free sialic acid storage disease +MONDO:0010030 Sjogren syndrome NANDO:1200279 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sjogren's syndrome +MONDO:0010030 Sjogren syndrome NANDO:1200280 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary Sjogren's syndrome +MONDO:0010030 Sjogren syndrome NANDO:2200420 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sjogren's syndrome +MONDO:0010031 Sjogren-Larsson syndrome NANDO:1200620 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sjögren-Larsson syndrome +MONDO:0010031 Sjogren-Larsson syndrome NANDO:2200994 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sjögren-Larsson syndrome +MONDO:0010035 Smith-Lemli-Opitz syndrome NANDO:1200961 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Smith-lemli-opitz syndrome +MONDO:0010035 Smith-Lemli-Opitz syndrome NANDO:2200979 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Smith-Lemli-Opitz syndrome +MONDO:0010038 growth delay due to insulin-like growth factor I resistance NANDO:2200320 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IGF1 insensitivity +MONDO:0010056 spinal muscular atrophy, type IV NANDO:1200007 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal muscular atrophy type IV +MONDO:0010066 familial isolated congenital asplenia NANDO:2200775 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Isolated congenital asplenia +MONDO:0010078 spondyloperipheral dysplasia NANDO:2201351 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spondyloperipheral dysplasia +MONDO:0010079 Canavan disease NANDO:1200948 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Canavan disease +MONDO:0010079 Canavan disease NANDO:2200834 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Canavan disease +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency NANDO:2200599 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Succinic semialdehyde dehydrogenase deficiency +MONDO:0010088 mucosulfatidosis NANDO:1200083 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple sulfatase deficiency +MONDO:0010088 mucosulfatidosis NANDO:1200624 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple sulfatase deficiency +MONDO:0010088 mucosulfatidosis NANDO:2200566 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple sulfatase deficiency +MONDO:0010089 isolated sulfite oxidase deficiency NANDO:2200583 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sulfite oxidase deficiency +MONDO:0010099 Tay-Sachs disease AB variant NANDO:1200073 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM2 gangliosidosis AB variant +MONDO:0010099 Tay-Sachs disease AB variant NANDO:2201201 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM2 gangliosidosis AB variant +MONDO:0010100 Tay-Sachs disease NANDO:1200071 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tay-Sachs disease +MONDO:0010100 Tay-Sachs disease NANDO:2201199 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tay-Sachs disease +MONDO:0010119 obsolete Glanzmann's thrombasthenia NANDO:2200657 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thrombasthenia +MONDO:0010119 obsolete Glanzmann's thrombasthenia NANDO:2200664 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ITGA2B/ITGB3 mutations +MONDO:0010121 thrombocytopenia-absent radius syndrome NANDO:2200661 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thrombocytopenia with absent radii +MONDO:0010122 congenital thrombotic thrombocytopenic purpura NANDO:1200317 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital thrombotic thrombocytopenic purpura +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive NANDO:1200395 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Resistance to thyroid hormone +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive NANDO:2100121 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Resistance to thyroid hormone +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive NANDO:2200341 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Resistance to thyroid hormone +MONDO:0010155 Dorfman-Chanarin disease NANDO:1200622 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dorfman-Chanarin syndrome +MONDO:0010155 Dorfman-Chanarin disease NANDO:1200623 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neutral lipid storage disease with ichthyosis +MONDO:0010155 Dorfman-Chanarin disease NANDO:2200997 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dorfman-Chanarin syndrome +MONDO:0010160 tyrosinemia type II NANDO:1200789 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tyrosinemia type 2 +MONDO:0010160 tyrosinemia type II NANDO:2200469 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tyrosinemia type 2 +MONDO:0010161 tyrosinemia type I NANDO:1200788 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tyrosinemia type 1 +MONDO:0010161 tyrosinemia type I NANDO:2200468 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tyrosinemia type 1 +MONDO:0010162 tyrosinemia type III NANDO:1200790 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tyrosinemia type 3 +MONDO:0010162 tyrosinemia type III NANDO:2200470 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tyrosinemia type 3 +MONDO:0010168 Usher syndrome type 1 NANDO:1200942 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Usher syndrome type I +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF NANDO:2201110 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia and homocystinuria cblF type +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC NANDO:1201040 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Homocystinuria type 2 +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC NANDO:2201107 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic aciduria and homocystinuria, cblC type +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD NANDO:1200797 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia CblD type +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD NANDO:2201108 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia CblD type +MONDO:0010188 familial isolated deficiency of vitamin E NANDO:1200050 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ataxia with isolated vitamin E deficiency +MONDO:0010193 Weaver syndrome NANDO:1200659 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Weaver syndrome +MONDO:0010193 Weaver syndrome NANDO:2200957 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Weaver syndrome +MONDO:0010196 Werner syndrome NANDO:1200676 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Werner syndrome +MONDO:0010196 Werner syndrome NANDO:2200831 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Werner syndrome +MONDO:0010200 Wilson disease NANDO:1200655 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Wilson disease +MONDO:0010200 Wilson disease NANDO:2200579 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Wilson disease +MONDO:0010226 46,XY sex reversal 2 NANDO:1200404 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO DAX1 abnormality +MONDO:0010246 developmental and epileptic encephalopathy, 9 NANDO:1200599 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO PCDH19-related syndrome +MONDO:0010247 X-linked cerebral adrenoleukodystrophy NANDO:1200166 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Childhood cerebral adrenoleukodystrophy +MONDO:0010247 X-linked cerebral adrenoleukodystrophy NANDO:2201246 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Childhood cerebral adrenoleukodystrophy +MONDO:0010264 X-linked adrenal hypoplasia congenita NANDO:1200403 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital adrenal hypoplasia +MONDO:0010264 X-linked adrenal hypoplasia congenita NANDO:2200357 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital adrenal hypoplasia +MONDO:0010281 Danon disease NANDO:1200145 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Danon disease +MONDO:0010281 Danon disease NANDO:1200222 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Danon disease +MONDO:0010283 syndromic X-linked intellectual disability Lubs type NANDO:2200984 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MECP2 duplication syndrome +MONDO:0010293 ectodermal dysplasia and immune deficiency NANDO:1200360 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anhidrotic ectodermal dysplasia with immunodeficiency +MONDO:0010293 ectodermal dysplasia and immune deficiency NANDO:2200761 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anhidrotic ectodermal dysplasia with immunodeficiency +MONDO:0010294 X-linked severe congenital neutropenia NANDO:2200753 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X linked severe congenital neutropenia +MONDO:0010298 Lesch-Nyhan syndrome NANDO:2200586 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lesch-Nyhan syndrome +MONDO:0010305 creatine transporter deficiency NANDO:1201035 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Creatine transporter deficiency +MONDO:0010305 creatine transporter deficiency NANDO:2201301 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO SLC6A8 deficiency +MONDO:0010311 Becker muscular dystrophy NANDO:1200489 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Becker muscular dystrophy +MONDO:0010311 Becker muscular dystrophy NANDO:2200865 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Becker muscular dystrophy +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency NANDO:1200321 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked severe combined immunodeficiency +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency NANDO:2200694 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked severe combined immunodeficiency +MONDO:0010354 Allan-Herndon-Dudley syndrome NANDO:1200580 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Allan-Herndon-Dudley syndrome +MONDO:0010354 Allan-Herndon-Dudley syndrome NANDO:2201292 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Allan-Herndon-Dudley syndrome +MONDO:0010362 glycogen storage disease IXd NANDO:1200830 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type IXd +MONDO:0010362 glycogen storage disease IXd NANDO:2201167 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IXd +MONDO:0010382 fragile X-associated tremor/ataxia syndrome NANDO:1200690 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fragile X syndrome related diseases +MONDO:0010382 fragile X-associated tremor/ataxia syndrome NANDO:1200691 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fragile X tremor/ataxia syndrome +MONDO:0010383 fragile X syndrome NANDO:1200692 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fragile X syndrome +MONDO:0010383 fragile X syndrome NANDO:2100224 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fragile X syndrome +MONDO:0010383 fragile X syndrome NANDO:2200840 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fragile X syndrome +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency NANDO:2201279 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO gp91phox-deficient chronic granulomatous disease +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency NANDO:1200831 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Phosphoglycerate kinase deficiency +MONDO:0010420 X-linked erythropoietic protoporphyria NANDO:1200818 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked dominant protoporphyria +MONDO:0010420 X-linked erythropoietic protoporphyria NANDO:2201269 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked dominant protoporphyria +MONDO:0010421 Bruton-type agammaglobulinemia NANDO:1200343 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked agammaglobulinemia +MONDO:0010421 Bruton-type agammaglobulinemia NANDO:2200716 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked agammaglobulinemia +MONDO:0010434 synovial sarcoma NANDO:2200061 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Synovial sarcoma +MONDO:0010518 Wiskott-Aldrich syndrome NANDO:1200330 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Wiskott-Aldrich syndrome +MONDO:0010518 Wiskott-Aldrich syndrome NANDO:2200704 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Wiskott-Aldrich syndrome +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome NANDO:1200665 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ATR-X syndrome +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome NANDO:2100223 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ATR-X syndrome +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome NANDO:2200839 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ATR-X syndrome +MONDO:0010526 Fabry disease NANDO:1200157 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fabry disease +MONDO:0010526 Fabry disease NANDO:2200563 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fabry disease +MONDO:0010543 Barth syndrome NANDO:1200991 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3-methylglutaconicaciduria type II +MONDO:0010543 Barth syndrome NANDO:2200751 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Barth syndrome +MONDO:0010555 X-linked chondrodysplasia punctata 1 NANDO:2201356 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked recessive brachytelephalangic chondrodysplasia punctata +MONDO:0010555 X-linked chondrodysplasia punctata 1 NANDO:2201360 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Brachytelephalangic chondrodysplasia punctata +MONDO:0010561 Coffin-Lowry syndrome NANDO:1200660 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coffin-Lowry syndrome +MONDO:0010561 Coffin-Lowry syndrome NANDO:2200952 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coffin-Lowry syndrome +MONDO:0010568 Aicardi syndrome NANDO:1200562 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aicardi syndrome +MONDO:0010572 occipital horn syndrome NANDO:1200654 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Occipital horn syndrome +MONDO:0010572 occipital horn syndrome NANDO:2200581 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Occipital horn syndrome +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome NANDO:2200924 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IPEX syndrome +MONDO:0010598 glycogen storage disease IXa1 NANDO:1200847 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type IXa +MONDO:0010598 glycogen storage disease IXa1 NANDO:2201164 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IXa +MONDO:0010602 hemophilia A NANDO:2200676 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hemophilia A +MONDO:0010604 hemophilia B NANDO:2200677 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hemophilia B +MONDO:0010613 inborn glycerol kinase deficiency NANDO:2200505 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycerol kinase deficiency +MONDO:0010619 X-linked dominant hypophosphatemic rickets NANDO:1200779 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-resistant rickets +MONDO:0010621 CHILD syndrome NANDO:1200629 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CHILD syndrome +MONDO:0010621 CHILD syndrome NANDO:2200998 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CHILD syndrome +MONDO:0010621 CHILD syndrome NANDO:2201358 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CHILD syndrome +MONDO:0010622 recessive X-linked ichthyosis NANDO:1200625 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Recessive X-linked ichtyosis +MONDO:0010627 X-linked lymphoproliferative syndrome NANDO:1200351 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked lymphoproliferative syndrome +MONDO:0010627 X-linked lymphoproliferative syndrome NANDO:2200725 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked lymphoproliferative syndrome +MONDO:0010631 incontinentia pigmenti NANDO:2200974 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Incontinentia pigmenti +MONDO:0010645 oculocerebrorenal syndrome NANDO:2100028 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lowe syndrome +MONDO:0010645 oculocerebrorenal syndrome NANDO:2200188 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lowe syndrome +MONDO:0010651 Menkes disease NANDO:1200653 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Menkes disease +MONDO:0010651 Menkes disease NANDO:2200580 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Menkes disease +MONDO:0010674 mucopolysaccharidosis type 2 NANDO:1200097 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hunter syndrome +MONDO:0010674 mucopolysaccharidosis type 2 NANDO:2200548 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type II +MONDO:0010679 Duchenne muscular dystrophy NANDO:1200488 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Duchenne muscular dystrophy +MONDO:0010679 Duchenne muscular dystrophy NANDO:2200856 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Duchenne muscular dystrophy +MONDO:0010684 X-linked myopathy with excessive autophagy NANDO:1200223 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked Myopathy with excessive autophagy +MONDO:0010703 ornithine carbamoyltransferase deficiency NANDO:1200804 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ornithine transcarbamylase deficiency +MONDO:0010703 ornithine carbamoyltransferase deficiency NANDO:2200479 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ornithine transcarbamylase deficiency +MONDO:0010713 properdin deficiency, X-linked NANDO:2200789 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Properdin deficiency +MONDO:0010714 Pelizaeus-Merzbacher disease NANDO:1200576 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pelizaeus-Merzbacher disease +MONDO:0010714 Pelizaeus-Merzbacher disease NANDO:2201288 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pelizaeus-Merzbacher disease +MONDO:0010725 X-linked retinoschisis NANDO:1200938 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked juvenile retinoschisis +MONDO:0010726 Rett syndrome NANDO:1200603 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rett syndrome +MONDO:0010726 Rett syndrome NANDO:1200604 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Typical Rett syndrome +MONDO:0010726 Rett syndrome NANDO:2100219 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rett syndrome +MONDO:0010726 Rett syndrome NANDO:2200825 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rett syndrome +MONDO:0010731 Simpson-Golabi-Behmel syndrome NANDO:2200978 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Simpson-Golabi-Behmel syndrome +MONDO:0010735 Kennedy disease NANDO:1200001 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal and bulbar muscular atrophy +MONDO:0010747 X-linked dystonia-parkinsonism NANDO:1200514 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 3 +MONDO:0010778 cyclic vomiting syndrome NANDO:2100258 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cyclic vomiting syndrome +MONDO:0010778 cyclic vomiting syndrome NANDO:2200919 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cyclic vomiting syndrome +MONDO:0010787 Kearns-Sayre syndrome NANDO:1201064 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kearns-Sayre syndrome +MONDO:0010787 Kearns-Sayre syndrome NANDO:2200529 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kearns-Sayre syndrome +MONDO:0010788 Leber hereditary optic neuropathy NANDO:1200178 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leber hereditary optic neuropathy +MONDO:0010788 Leber hereditary optic neuropathy NANDO:1200940 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leber hereditary optic neuropathy +MONDO:0010789 MELAS syndrome NANDO:1200176 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome +MONDO:0010789 MELAS syndrome NANDO:2200525 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) +MONDO:0010790 MERRF syndrome NANDO:1200177 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myoclonus epilepsy associated with ragged-red fibers +MONDO:0010790 MERRF syndrome NANDO:2200526 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myoclonus epilepsy associated with ragged-red fibers +MONDO:0010808 fatal familial insomnia NANDO:1200191 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fatal familial insomnia +MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 NANDO:1200772 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rhizomelic chondrodysplasia punctata type 3 +MONDO:0010829 CARASIL syndrome NANDO:1200544 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy +MONDO:0010857 semantic dementia NANDO:1200550 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Semantic dementia +MONDO:0010894 maturity-onset diabetes of the young type 3 NANDO:2201071 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maturity-onset diabetes of the young type 3 +MONDO:0010911 prolactin-producing pituitary gland adenoma NANDO:1200378 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome +MONDO:0010913 Caroli disease NANDO:2200934 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Caroli disease +MONDO:0010931 vitamin D-dependent rickets, type 2B NANDO:1200779 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-resistant rickets +MONDO:0010940 inherited susceptibility to asthma NANDO:2100031 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchial asthma +MONDO:0010940 inherited susceptibility to asthma NANDO:2200197 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchial asthma +MONDO:0010947 Budd-Chiari syndrome NANDO:1200437 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Budd-Chiari syndrome +MONDO:0010983 dystonia 9 NANDO:1200520 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 9 +MONDO:0011014 pleuropulmonary blastoma NANDO:2200080 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pleuropulmonaryblastoma +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome NANDO:1200526 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss +MONDO:0011093 mucopolysaccharidosis type 9 NANDO:1200115 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyaluronidase deficiency +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type NANDO:1200652 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type NANDO:2201262 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome +MONDO:0011147 chromosome 18q deletion syndrome NANDO:1200579 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 18q-syndrome +MONDO:0011147 chromosome 18q deletion syndrome NANDO:2201291 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 18q-syndrome +MONDO:0011156 progressive familial intrahepatic cholestasis type 2 NANDO:1201044 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive familial intrahepatic cholestasis type 2 +MONDO:0011200 torsion dystonia 7 NANDO:1200518 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 7 +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 NANDO:1201045 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive familial intrahepatic cholestasis type 3 +MONDO:0011230 ossification of the posterior longitudinal ligament of the spine NANDO:1200371 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ossification of posterior longitudinal ligament +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome NANDO:2200823 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megalencephaly-capillary malformation syndrome +MONDO:0011264 torsion dystonia 6 NANDO:1200517 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 6 +MONDO:0011269 psoriasis 2 NANDO:2200443 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CARD14 deficiency +MONDO:0011273 H syndrome NANDO:2200457 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO SLC29A3 deficiency +MONDO:0011281 congenital myasthenic syndrome 5 NANDO:1201056 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO End-plate acetylcholine esterase deficiency +MONDO:0011301 pseudohypoparathyroidism type 1B NANDO:1201076 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoparathyroidism type 1B +MONDO:0011326 citrullinemia, type II, adult-onset NANDO:1200980 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult-onset type II citrullinemia +MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 NANDO:2200730 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Syntaxin 11 deficiency +MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 NANDO:2200728 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Perforin deficiency +MONDO:0011338 Omenn syndrome NANDO:1200324 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Omenn syndrome +MONDO:0011338 Omenn syndrome NANDO:2200697 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Omenn syndrome +MONDO:0011340 congenital tracheal stenosis NANDO:1201003 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital tracheal stenosis +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type NANDO:1200681 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Young-Simpson syndrome +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type NANDO:2200982 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Young-Simpson syndrome +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter NANDO:1200951 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vanishing white matter disease +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter NANDO:2200838 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vanishing white matter disease +MONDO:0011382 sickle cell anemia NANDO:2200624 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sickle cell disease +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts NANDO:1200950 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megaloencephalic leukoencephalopathy with subcortical cysts +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts NANDO:2200837 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megaloencephalic leukoencephalopathy with subcortical cysts +MONDO:0011399 alpha thalassemia NANDO:2201273 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO α-thalassemia +MONDO:0011405 poikiloderma with neutropenia NANDO:2200749 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Clericuzio-type poikiloderma with neutropenia syndrome +MONDO:0011426 aceruloplasminemia NANDO:1200540 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurodegeneration with brain iron accumulation type 4 +MONDO:0011426 aceruloplasminemia NANDO:2200582 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aceruloplasminemia +MONDO:0011429 juvenile idiopathic arthritis NANDO:1200469 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile idiopathic arthritis +MONDO:0011429 juvenile idiopathic arthritis NANDO:2200415 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile idiopathic arthritis +MONDO:0011449 Salla disease NANDO:1200149 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Salla disease +MONDO:0011449 Salla disease NANDO:1200582 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Salla disease +MONDO:0011449 Salla disease NANDO:2201294 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Salla disease +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome NANDO:1200868 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pyogenic arthritis, pyoderma gangrenosum, acne syndrome +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome NANDO:2200437 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pyogenic arthritis, pyoderma gangrenosum, acne syndrome +MONDO:0011469 congenital amegakaryocytic thrombocytopenia NANDO:2200651 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital amegakaryocytic thrombocytopenia +MONDO:0011476 MHC class I deficiency NANDO:1200328 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MHC class I deficiency +MONDO:0011476 MHC class I deficiency NANDO:2200701 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MHC class I deficiency +MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis NANDO:2201352 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mild spondyloepiphyseal dysplasia with premature-onset arthrosis +MONDO:0011514 tricuspid atresia NANDO:1200706 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tricuspid atresia +MONDO:0011514 tricuspid atresia NANDO:1200962 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital tricuspid stenosis +MONDO:0011514 tricuspid atresia NANDO:2100073 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tricuspid atresia +MONDO:0011514 tricuspid atresia NANDO:2200251 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tricuspid atresia +MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome NANDO:2200660 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital thrombocytopenia with radio-ulnar synostosis +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency NANDO:1200979 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neonatal intrahepatic cholestasis caused by citrin deficiency +MONDO:0011603 GNE myopathy NANDO:1200218 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Distal myopathy with rimmed vacuoles +MONDO:0011612 glycine encephalopathy NANDO:1200984 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nonketotic hyperglycinemia +MONDO:0011612 glycine encephalopathy NANDO:2200476 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nonketotic hyperglycinemia +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency NANDO:2200498 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3-hydroxy-3-methylglutaryl-CoA synthase deficiency +MONDO:0011628 propionic acidemia NANDO:1200792 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Propionic acidemia +MONDO:0011628 propionic acidemia NANDO:2200492 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Propionic acidemia +MONDO:0011638 neuroferritinopathy NANDO:1200539 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurodegeneration with brain iron accumulation type 3 +MONDO:0011638 neuroferritinopathy NANDO:1200542 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuroferritinopathy +MONDO:0011655 alveolar soft part sarcoma NANDO:2200063 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alveolar soft part sarcoma +MONDO:0011664 immunodeficiency due to CD25 deficiency NANDO:2200736 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Immunodeficiency 41 with lymphoproliferation and autoimmunity +MONDO:0011667 maturity-onset diabetes of the young type 4 NANDO:2201072 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maturity-onset diabetes of the young type 4 +MONDO:0011705 lymphangioleiomyomatosis NANDO:1200430 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphangioleiomyomatosis +MONDO:0011724 encephalopathy due to GLUT1 deficiency NANDO:1200799 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glucose transporter 1 deficiency +MONDO:0011724 encephalopathy due to GLUT1 deficiency NANDO:2200545 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glucose transporter 1 deficiency +MONDO:0011730 fumaric aciduria NANDO:2200520 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fumarase deficiency +MONDO:0011731 glucose-galactose malabsorption NANDO:2200909 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glucose-galactose malabsorption +MONDO:0011758 Hurler syndrome NANDO:1200094 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hurler syndrome +MONDO:0011758 Hurler syndrome NANDO:2201168 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hurler Disease +MONDO:0011759 Hurler-Scheie syndrome NANDO:1200096 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hurler-Scheie syndrome +MONDO:0011759 Hurler-Scheie syndrome NANDO:2201170 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hurler-Scheie disease +MONDO:0011760 Scheie syndrome NANDO:1200095 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Scheie syndrome +MONDO:0011760 Scheie syndrome NANDO:2201169 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Scheie disease +MONDO:0011776 CINCA syndrome NANDO:1200468 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic infantile neurological cutaneous articular syndrome +MONDO:0011776 CINCA syndrome NANDO:2201066 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic infantile neurological cutaneous articular syndrome +MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B NANDO:2200740 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Caspase-8 deficiency +MONDO:0011826 glucocorticoid deficiency 2 NANDO:1200409 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MRAP deficiency +MONDO:0011827 patent ductus arteriosus NANDO:2100084 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Patent ductus arteriosus +MONDO:0011827 patent ductus arteriosus NANDO:2200264 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Patent ductus arteriosus +MONDO:0011844 myoclonic dystonia 15 NANDO:1200528 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 15 +MONDO:0011849 psoriatic arthritis NANDO:2201059 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Psoriatic juvenile idiopathic arthritis +MONDO:0011871 Niemann-Pick disease type B NANDO:1200062 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Niemann-Pick disease type B +MONDO:0011871 Niemann-Pick disease type B NANDO:2201207 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Niemann-Pick disease type B +MONDO:0011872 Griscelli syndrome type 2 NANDO:2200732 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Griscelli syndrome type 2 +MONDO:0011886 torsion dystonia 13 NANDO:1200527 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 13 +MONDO:0011888 immunodeficiency 67 NANDO:1200361 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IRAK4 deficiency +MONDO:0011888 immunodeficiency 67 NANDO:2200762 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IRAK4 deficiency +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome NANDO:1200585 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ataxia, delayed dentition, and hypomyelination syndrome +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome NANDO:2201297 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ataxia, delayed dentition, and hypomyelination syndrome +MONDO:0011908 juvenile myelomonocytic leukemia NANDO:2200014 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic myelomonocytic leukemia +MONDO:0011908 juvenile myelomonocytic leukemia NANDO:2200015 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile myelomonocytic leukemia +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A NANDO:2200861 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Merosin-deficient congenital muscular dystrophy +MONDO:0011929 chromosome 1p36 deletion syndrome NANDO:1200682 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 1p36 deletion syndrome +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation NANDO:2200744 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spondylo enchondro-dysplasiawith immune dysregulation +MONDO:0011975 paternal uniparental disomy of chromosome 14 NANDO:1200685 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Paternal uniparental disomy of chromosome 14 +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive NANDO:2200013 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic myeloid leukemia +MONDO:0011997 Hermansky-Pudlak syndrome 2 NANDO:2200733 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hermansky-Pudlak syndrome type 2 +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency NANDO:1200988 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aromatic L-amino acid decarboxylase deficiency +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency NANDO:2200596 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aromatic L-amino acid decarboxylase deficiency +MONDO:0012104 acquired partial lipodystrophy NANDO:1200862 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired partial lipodystrophy +MONDO:0012105 granulomatosis with polyangiitis NANDO:1200263 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Granulomatosis with polyangiitis +MONDO:0012105 granulomatosis with polyangiitis NANDO:1201009 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic granulomatosis with polyangiitis +MONDO:0012105 granulomatosis with polyangiitis NANDO:2200424 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Granulomatosis with polyangiitis +MONDO:0012126 familial avascular necrosis of femoral head NANDO:1200373 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic osteonecrosis of femoral head +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form NANDO:2201132 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neonatal-onset carnitine palmitoyltransferase II deficiency +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 NANDO:2200729 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO UNC13D/Munc13-4 deficiency +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation NANDO:1200326 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CD8 deficiency +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation NANDO:2200699 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CD8 deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency NANDO:1200974 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Trifunctional protein deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency NANDO:2200515 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Trifunctional protein deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency NANDO:2201147 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Presymptomatic trifunctional protein deficiency +MONDO:0012176 Emanuel syndrome NANDO:1200689 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Emanuel syndrome +MONDO:0012184 Pierson syndrome NANDO:2200117 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pierson syndrome +MONDO:0012197 idiopathic aplastic anemia NANDO:1200296 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic aplastic anemia +MONDO:0012197 idiopathic aplastic anemia NANDO:2201276 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic aplastic anemia +MONDO:0012198 PCWH syndrome NANDO:1200586 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease +MONDO:0012198 PCWH syndrome NANDO:2201298 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease +MONDO:0012206 Czech dysplasia, metatarsal type NANDO:2201353 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spondyloepiphyseal dysplasia with metatarsal shortening +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 NANDO:1200135 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schindler disease type I +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 NANDO:1200136 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schindler disease type 2 +MONDO:0012268 AIDS NANDO:2100212 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired immune deficiency syndrome +MONDO:0012268 AIDS NANDO:2200809 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired immune deficiency syndrome +MONDO:0012295 complement component 5 deficiency NANDO:2200783 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO C5 deficiency +MONDO:0012316 Majeed syndrome NANDO:2200453 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Majeed syndrome +MONDO:0012350 complement factor H deficiency NANDO:2200791 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor H deficiency +MONDO:0012354 platelet-type bleeding disorder 8 NANDO:2200669 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ADP receptor deficiencies +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency NANDO:2200771 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MCM4 mutation +MONDO:0012412 complement component 7 deficiency NANDO:2200785 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO C7 deficiency +MONDO:0012429 Aicardi-Goutieres syndrome 2 NANDO:2200894 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aicardi-Goutieres syndrome 2 +MONDO:0012444 neurodegeneration with brain iron accumulation 2B NANDO:1200538 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurodegeneration with brain iron accumulation type 2B +MONDO:0012455 Kleefstra syndrome NANDO:1200959 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 9q34 deletion syndrome +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency NANDO:1200983 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Inherited glycosylphosphatidylinositol deficiency +MONDO:0012471 Aicardi-Goutieres syndrome 3 NANDO:2200895 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aicardi-Goutieres syndrome 3 +MONDO:0012481 mevalonic aciduria NANDO:1200866 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper IgD syndrome +MONDO:0012514 hypomyelinating leukodystrophy 5 NANDO:1200584 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypomyelination and congenital cataract +MONDO:0012514 hypomyelinating leukodystrophy 5 NANDO:2201296 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypomyelination and congenital cataract +MONDO:0012521 herpes simplex encephalitis NANDO:2200772 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Herpes simplex encephalitis +MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency NANDO:2200752 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO P14 deficiency +MONDO:0012579 autoimmune pulmonary alveolar proteinosis NANDO:1200747 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune pulmonary alveolar proteinosis +MONDO:0012579 autoimmune pulmonary alveolar proteinosis NANDO:1200748 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic pulmonary alveolar proteinosis +MONDO:0012580 hereditary pulmonary alveolar proteinosis NANDO:1200746 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary alveolar proteinosis +MONDO:0012580 hereditary pulmonary alveolar proteinosis NANDO:1200750 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital alveolar proteinosis +MONDO:0012580 hereditary pulmonary alveolar proteinosis NANDO:2200200 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital alveolar proteinosis +MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 NANDO:2200801 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CD21 deficiency +MONDO:0012594 complement factor I deficiency NANDO:2200790 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor I deficiency +MONDO:0012594 complement factor I deficiency NANDO:2200798 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor I deficiency +MONDO:0012603 episodic kinesigenic dyskinesia 2 NANDO:1200532 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 19 +MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 NANDO:1200533 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 20 +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency NANDO:2201152 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type 0b +MONDO:0012724 familial cold autoinflammatory syndrome 2 NANDO:2200449 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO NLRP12-associated periodic syndrome +MONDO:0012724 familial cold autoinflammatory syndrome 2 NANDO:2200454 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO NLRP12-associated periodic syndrome +MONDO:0012725 lipoprotein glomerulopathy NANDO:2200134 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lipoprotein glomerulopathy +MONDO:0012747 glycogen storage disease due to aldolase A deficiency NANDO:1200834 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type XII +MONDO:0012764 RIDDLE syndrome NANDO:1200336 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO RIDDLE syndrome +MONDO:0012764 RIDDLE syndrome NANDO:2200710 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO RIDDLE syndrome +MONDO:0012789 dystonia 16 NANDO:1200529 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 16 +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 NANDO:1200531 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 18 +MONDO:0012817 Ewing sarcoma NANDO:2200053 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ewing's sarcoma +MONDO:0012824 hypomyelinating leukodystrophy 4 NANDO:1200581 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial Hsp60 chaperonopathy +MONDO:0012824 hypomyelinating leukodystrophy 4 NANDO:2201293 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial Hsp60 chaperonopathy +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency NANDO:1200362 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MyD88 deficiency +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency NANDO:2200763 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MyD88 deficiency +MONDO:0012858 primary CD59 deficiency NANDO:2200804 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary CD59 deficiency +MONDO:0012866 hereditary spastic paraplegia 35 NANDO:1200541 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fatty acid hydroxylase-associated neurodegeneration +MONDO:0012883 acute promyelocytic leukemia NANDO:2200007 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute promyelocytic leukemia +MONDO:0012895 torsion dystonia 17 NANDO:1200530 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 17 +MONDO:0012901 inherited prekallikrein deficiency NANDO:2200684 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital prekallikrein deficiency +MONDO:0012905 hypomyelinating leukodystrophy 6 NANDO:1200578 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypomyelination with atrophy of the basal ganglia and cerebellum +MONDO:0012905 hypomyelinating leukodystrophy 6 NANDO:2201290 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypomyelination with atrophy of the basal ganglia and cerebellum +MONDO:0012908 complement component 6 deficiency NANDO:2200784 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO C6 deficiency +MONDO:0012911 pseudohypoparathyroidism type 1C NANDO:1201077 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoparathyroidism type 1C +MONDO:0012912 pseudopseudohypoparathyroidism NANDO:2200348 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudopseudohypoparathyroidism +MONDO:0012941 inflammatory bowel disease 25 NANDO:2200448 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IL-10RB deficiency +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency NANDO:1200982 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sepiapterin reductase deficiency +MONDO:0012996 AGAT deficiency NANDO:1201033 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Arginine:glycine amidinotransferase deficiency +MONDO:0012996 AGAT deficiency NANDO:2201299 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO AGAT deficiency +MONDO:0012999 guanidinoacetate methyltransferase deficiency NANDO:1201034 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Guanidinoacetate methyltransferase deficiency +MONDO:0012999 guanidinoacetate methyltransferase deficiency NANDO:2201300 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GAMT deficiency +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis NANDO:2200439 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Deficiency of the interleukin-1-receptor antagonist +MONDO:0013024 chronic thromboembolic pulmonary hypertension NANDO:1200429 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic thromboembolic pulmonary hypertension +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly NANDO:2200803 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CD46 deficiency +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency NANDO:1200835 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type XIII +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency NANDO:1200833 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type XI +MONDO:0013059 Aicardi-Goutieres syndrome 5 NANDO:2200897 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aicardi-Goutieres syndrome 5 +MONDO:0013066 46,XY sex reversal 3 NANDO:1200405 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO SF-1 abnormality +MONDO:0013081 lymphoproliferative syndrome 1 NANDO:2200734 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IL-2-inducible T-cell kinase deficiency +MONDO:0013091 glycogen storage disease IXc NANDO:1200849 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type IXc +MONDO:0013091 glycogen storage disease IXc NANDO:2201166 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IXc +MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 NANDO:2200731 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO STXBP2/Munc18-2 deficiency +MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related NANDO:2200667 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO β-1 tubulin disorders +MONDO:0013153 inflammatory bowel disease 28 NANDO:2200447 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IL-10RA deficiency +MONDO:0013166 GABA aminotransaminase deficiency NANDO:2200598 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gamma-amino butyrate aminotransferase deficiency +MONDO:0013171 purine nucleoside phosphorylase deficiency NANDO:1200325 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Purine nucleoside phosphorylase deficiency +MONDO:0013171 purine nucleoside phosphorylase deficiency NANDO:2200698 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Purine nucleoside phosphorylase deficiency +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation NANDO:2200866 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO LMNA-related congenital muscular dystrophy +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency NANDO:2200688 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital plasminogen activator inhibitor-1 deficiency +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency NANDO:2200739 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Syndromic multisystem autoimmune disease due to Itch deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency NANDO:1200755 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-1-antitrypsin deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency NANDO:2100174 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-1-antitrypsin deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency NANDO:2200611 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-1-antitrypsin deficiency +MONDO:0013291 glycogen storage disease XV NANDO:1200837 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type XV +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NANDO:1200402 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO P450 oxidoreductase deficiency +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NANDO:2200375 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO P450 oxidoreductase deficiency +MONDO:0013316 occult macular dystrophy NANDO:1200934 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Occult macular dystrophy +MONDO:0013343 C1Q deficiency NANDO:2200777 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO C1q deficiency +MONDO:0013361 congenital prothrombin deficiency NANDO:2200673 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoprothrombinemia +MONDO:0013391 sterol carrier protein 2 deficiency NANDO:1200767 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sterol carrier protein 2 deficiency +MONDO:0013408 FADD-related immunodeficiency NANDO:2200741 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fas-associated death domain protein deficiency +MONDO:0013417 complement component 3 deficiency NANDO:2200782 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO C3 deficiency +MONDO:0013419 complement component C1s deficiency NANDO:2200779 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO C1s deficiency +MONDO:0013423 immunodeficiency due to MASP-2 deficiency NANDO:2200793 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MASP2 deficiency +MONDO:0013433 primary sclerosing cholangitis NANDO:1200440 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary sclerosing cholangitis +MONDO:0013433 primary sclerosing cholangitis NANDO:2100265 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary sclerosing cholangitis +MONDO:0013445 complement component 9 deficiency NANDO:2200787 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO C9 deficiency +MONDO:0013467 immunodeficiency due to ficolin3 deficiency NANDO:2200794 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ficolin 3 Deficiency +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency NANDO:2200788 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor D deficiency +MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 NANDO:2201283 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO p40phox-deficient chronic granulomatous disease +MONDO:0013571 acatalasia NANDO:1200774 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acatalasemia +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency NANDO:2200719 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Isolated IgG subclass deficiency +MONDO:0013594 spinocerebellar ataxia type 36 NANDO:1200048 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar ataxia type 36 +MONDO:0013623 platelet-type bleeding disorder 11 NANDO:2200670 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Abnormalities in platelet collagen receptors +MONDO:0013626 psoriasis 14, pustular NANDO:1200244 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acrodermatitis continua of Hallopeau +MONDO:0013626 psoriasis 14, pustular NANDO:2200452 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IL36RN deficiency +MONDO:0013674 neurodegeneration with brain iron accumulation 4 NANDO:1200540 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurodegeneration with brain iron accumulation type 4 +MONDO:0013681 alpha-methylacyl-CoA racemase deficiency NANDO:1200768 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-methylacyl-CoA racemase deficiency +MONDO:0013700 pancreatic triacylglycerol lipase deficiency NANDO:2200912 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lipase deficiency +MONDO:0013766 familial cold autoinflammatory syndrome 3 NANDO:2200455 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO PLCG2-associated antibody deficiency and immune dysregulation +MONDO:0013851 autosomal dominant aplasia and myelodysplasia NANDO:1200301 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Borderline between aplastic anemia and MDS +MONDO:0013862 immunodeficiency, common variable, 7 NANDO:2200801 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CD21 deficiency +MONDO:0013869 adenine phosphoribosyltransferase deficiency NANDO:2200587 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adenine phosphoribosyltransferase deficiency +MONDO:0013873 IMAGe syndrome NANDO:1200406 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IMAge syndrome +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation NANDO:2200442 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation NANDO:2200451 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO PLCg2 deficiency +MONDO:0013968 PGM1-congenital disorder of glycosylation NANDO:1200836 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type XIV +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis NANDO:1200726 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary membranoproliferative glomerulonephritis type I +MONDO:0014007 Aicardi-Goutieres syndrome 6 NANDO:2200898 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aicardi-Goutieres syndrome 6 +MONDO:0014078 platelet-type bleeding disorder 15 NANDO:2200665 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ACTN1 mutations +MONDO:0014252 familial hypobetalipoproteinemia 1 NANDO:1201037 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Homozygous familial hypobetalipoproteinemia 1 +MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 NANDO:2200743 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO PKC-δ deficiency +MONDO:0014255 complement factor b deficiency NANDO:2200797 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor B deficiency +MONDO:0014306 vasculitis due to ADA2 deficiency NANDO:1200995 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adenosine deaminase 2 deficiency +MONDO:0014306 vasculitis due to ADA2 deficiency NANDO:2200441 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adenosine deaminase 2 deficiency +MONDO:0014306 vasculitis due to ADA2 deficiency NANDO:2200450 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Deficiency of the enzyme ADA2 +MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 NANDO:1201046 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive familial intrahepatic cholestasis type 4 +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure NANDO:1200952 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leukoencephalopathy, progressive, with ovarian failure +MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency NANDO:2200766 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO HOIL-1 deficiency +MONDO:0014421 glucocorticoid resistance NANDO:2200358 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glucocorticoid resistance +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome NANDO:1200994 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO NLRC4 mutation +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome NANDO:2200459 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO NLRC4 mutation +MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection NANDO:2200770 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO STAT2 deficiency +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome NANDO:2200985 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Takenouchi-Kosaki syndrome +MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 NANDO:1201047 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive familial intrahepatic cholestasis type 5 +MONDO:0014945 myopathy, distal, with rimmed vacuoles NANDO:1200218 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Distal myopathy with rimmed vacuoles +MONDO:0015075 thyroid gland carcinoma NANDO:2200074 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thyroid cancer +MONDO:0015104 porphyria cutanea tarda NANDO:1200816 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Porphyria cutanea tarda +MONDO:0015104 porphyria cutanea tarda NANDO:2201267 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Porphyria cutanea tarda +MONDO:0015129 chronic primary adrenal insufficiency NANDO:1200411 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Addison's disease +MONDO:0015129 chronic primary adrenal insufficiency NANDO:2200359 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Other chronic adrenal insufficiency +MONDO:0015129 chronic primary adrenal insufficiency NANDO:2200360 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Addison's disease +MONDO:0015131 combined immunodeficiency NANDO:2100203 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Combined immunodeficiency +MONDO:0015146 classic lissencephaly NANDO:1201068 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Agyria +MONDO:0015146 classic lissencephaly NANDO:1201069 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pachygyria +MONDO:0015149 pure hereditary spastic paraplegia NANDO:1200053 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pure hereditary spastic paraplegia +MONDO:0015150 complex hereditary spastic paraplegia NANDO:1200054 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complex hereditary spastic paraplegia +MONDO:0015169 chronic diarrhea due to glucoamylase deficiency NANDO:2200911 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Amylase deficiency +MONDO:0015175 autoimmune pancreatitis NANDO:1200925 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune pancreatitis +MONDO:0015175 autoimmune pancreatitis NANDO:2200943 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune pancreatitis +MONDO:0015183 short bowel syndrome NANDO:2100274 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Short bowel syndrome +MONDO:0015183 short bowel syndrome NANDO:2200944 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Short bowel syndrome +MONDO:0015194 sideroblastic anemia NANDO:2100179 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sideroblastic anemia +MONDO:0015194 sideroblastic anemia NANDO:2200616 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sideroblastic anemia +MONDO:0015197 aneurysm of sinus of Valsalva NANDO:2200293 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aneurysm of sinus valsalva +MONDO:0015229 Bardet-Biedl syndrome NANDO:2200414 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bardet-Biedl syndrome +MONDO:0015231 Bartter syndrome NANDO:2100021 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bartter syndrome +MONDO:0015231 Bartter syndrome NANDO:2200146 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bartter syndrome +MONDO:0015253 Diamond-Blackfan anemia NANDO:1200890 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diamond-Blackfan anemia +MONDO:0015253 Diamond-Blackfan anemia NANDO:2200614 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital red cell aplasia +MONDO:0015264 cryptogenic organizing pneumonia NANDO:1200421 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cryptogenic organizing pneumonia +MONDO:0015265 bronchiolitis obliterans syndrome NANDO:1200745 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchiolitis obliterans +MONDO:0015265 bronchiolitis obliterans syndrome NANDO:2100039 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchiolitis obliterans +MONDO:0015265 bronchiolitis obliterans syndrome NANDO:2200209 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchiolitis obliterans +MONDO:0015268 medullary sponge kidney NANDO:2200173 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Medullary sponge kidney +MONDO:0015273 complete atrioventricular canal NANDO:2100086 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete atrioventricular septal defect +MONDO:0015273 complete atrioventricular canal NANDO:2200269 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete atrioventricular septal defect +MONDO:0015275 partial atrioventricular canal NANDO:2200268 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Incomplete atrioventricular septal defect +MONDO:0015277 medullary thyroid gland carcinoma NANDO:2201054 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Medullary thyroid carcinoma +MONDO:0015279 chronic mucocutaneous candidiasis NANDO:1200363 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic mucocutaneous candidiasis +MONDO:0015279 chronic mucocutaneous candidiasis NANDO:2200764 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic mucocutaneous candidiasis +MONDO:0015280 cardiofaciocutaneous syndrome NANDO:1200462 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CFC Syndrome +MONDO:0015280 cardiofaciocutaneous syndrome NANDO:2200967 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CFC Syndrome +MONDO:0015285 Carney complex NANDO:1200756 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carney complex +MONDO:0015333 progeroid syndrome NANDO:2100221 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progeroid syndromes +MONDO:0015337 isolated craniosynostosis NANDO:2200843 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-syndromic craniosynostosis +MONDO:0015339 adrenomyeloneuropathy NANDO:1200168 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adrenomyeloneuropathy +MONDO:0015339 adrenomyeloneuropathy NANDO:2201248 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adrenomyeloneuropathy +MONDO:0015358 hereditary motor and sensory neuropathy NANDO:2200855 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary Motor and Sensory Neuropathy +MONDO:0015369 Joubert syndrome and related disorders NANDO:1200661 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Joubert syndrome and related disorders +MONDO:0015369 Joubert syndrome and related disorders NANDO:2100218 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Joubert syndrome related disorders +MONDO:0015369 Joubert syndrome and related disorders NANDO:2200824 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Joubert syndrome related disorders +MONDO:0015375 orofaciodigital syndrome NANDO:1201051 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oral-facial-digital syndrome +MONDO:0015395 congenital subglottic stenosis NANDO:1201004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital subglottic stenosis +MONDO:0015395 congenital subglottic stenosis NANDO:2200190 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Laryngeal stenosis +MONDO:0015408 diffuse lymphatic malformation NANDO:1200879 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO obsolete Lymphangiomatosis +MONDO:0015408 diffuse lymphatic malformation NANDO:2201033 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphangiomatosis +MONDO:0015436 ring chromosome 20 NANDO:1200597 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ring chromosome 20 syndrome +MONDO:0015446 atypical coarctation of aorta NANDO:2200284 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coarctation complex +MONDO:0015450 triatrial heart NANDO:2100083 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cor triatriatum +MONDO:0015450 triatrial heart NANDO:2200263 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cor triatriatum +MONDO:0015451 univentricular heart NANDO:1200704 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Single ventricle +MONDO:0015451 univentricular heart NANDO:2200250 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Single ventricle +MONDO:0015452 Coffin-Siris syndrome NANDO:1200670 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coffin-Siris syndrome +MONDO:0015452 Coffin-Siris syndrome NANDO:2200977 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coffin-Siris syndrome +MONDO:0015454 multiple carboxylase deficiency NANDO:1200820 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple carboxylase deficiency +MONDO:0015454 multiple carboxylase deficiency NANDO:2200500 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple carboxylase deficiency +MONDO:0015465 craniometaphyseal dysplasia NANDO:2201366 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Craniometaphyseal dysplasia +MONDO:0015469 craniosynostosis NANDO:2100227 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Craniosynostosis +MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:1200971 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carnitine palmitoyltransferase II deficiency +MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:2200510 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carnitine palmitoyltransferase II deficiency +MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:2201133 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile-onset carnitine palmitoyl transferase II deficiency +MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:2201134 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Late-onset carnitine palmitoyltransferase II deficiency +MONDO:0015517 common variable immunodeficiency NANDO:1200344 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Common variable immunodeficiency +MONDO:0015517 common variable immunodeficiency NANDO:2200717 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Common variable immunodeficiency +MONDO:0015518 infantile bilateral striatal necrosis NANDO:2100242 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile bilateral striatal necrosis +MONDO:0015518 infantile bilateral striatal necrosis NANDO:2200888 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile bilateral striatal necrosis +MONDO:0015534 juvenile xanthogranuloma NANDO:2200037 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile xanthogranuloma +MONDO:0015540 hemophagocytic syndrome NANDO:2200032 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hemophagocytic lymphohistiocytosis +MONDO:0015584 febrile infection-related epilepsy syndrome NANDO:1200600 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute encephalitis with refractory, repetitive partial seizures +MONDO:0015584 febrile infection-related epilepsy syndrome NANDO:2100249 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute encephalitis with refractory, repetitive partial seizures +MONDO:0015584 febrile infection-related epilepsy syndrome NANDO:2200903 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute encephalitis with refractory, repetitive partial seizures +MONDO:0015610 acquired aplastic anemia NANDO:2201277 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Secondary aplastic anemia +MONDO:0015611 neutral lipid storage disease NANDO:1200622 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dorfman-Chanarin syndrome +MONDO:0015611 neutral lipid storage disease NANDO:2200997 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dorfman-Chanarin syndrome +MONDO:0015626 Charcot-Marie-Tooth disease NANDO:1200016 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Charcot-Marie-Tooth disease +MONDO:0015626 Charcot-Marie-Tooth disease NANDO:2200855 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary Motor and Sensory Neuropathy +MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly NANDO:2201016 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Type II collagenopathy +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis NANDO:1200153 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Late infantile neuronal ceroid lipofuscinosis +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis NANDO:2201242 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Late infantile neuronal ceroid lipofuscinosis +MONDO:0015677 cardiac diverticulum NANDO:2200234 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aneurysm of ventricle +MONDO:0015691 hypereosinophilic syndrome NANDO:2200805 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper eosinophilic syndrome +MONDO:0015691 hypereosinophilic syndrome NANDO:2200806 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypereosinophilic syndrome +MONDO:0015698 transient hypogammaglobulinemia of infancy NANDO:1200349 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Transient hypogammaglobulinemia of infancy with normal numbers of B cells +MONDO:0015698 transient hypogammaglobulinemia of infancy NANDO:2200722 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Transient hypogammaglobulinemia of infancy with normal numbers of B cells +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells NANDO:1200348 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells NANDO:2200721 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells +MONDO:0015759 B-cell non-Hodgkin lymphoma NANDO:2200020 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mature B-cell lymphoma +MONDO:0015762 progressive familial intrahepatic cholestasis NANDO:1201042 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive familial intrahepatic cholestasis +MONDO:0015762 progressive familial intrahepatic cholestasis NANDO:2200933 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive familial intrahepatic cholestasis +MONDO:0015770 congenital hypogonadotropic hypogonadism NANDO:1200383 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hypogonadotropic hypogonadism +MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis NANDO:2200388 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mixed gonadal dysgenesis +MONDO:0015780 dyskeratosis congenita NANDO:1200304 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dyskeratosis congenita +MONDO:0015780 dyskeratosis congenita NANDO:1200342 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dyskeratosis congenita +MONDO:0015780 dyskeratosis congenita NANDO:2200715 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dyskeratosis congenita +MONDO:0015790 central diabetes insipidus NANDO:1200375 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central diabetes insipidus +MONDO:0015790 central diabetes insipidus NANDO:2200324 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central diabetes insipidus +MONDO:0015791 peripheral precocious puberty NANDO:2200378 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-gonadotropin-dependent precocious puberty +MONDO:0015863 polyembryoma NANDO:2200068 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polyembryoma +MONDO:0015864 mixed germ cell tumor NANDO:2200071 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mixed germ cell tumour +MONDO:0015892 growth hormone insensitivity syndrome NANDO:2100114 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Growth hormone insensitivity +MONDO:0015892 growth hormone insensitivity syndrome NANDO:2200321 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Growth hormone insensitivity +MONDO:0015895 obsolete syndrome with hypoparathyroidism NANDO:1200775 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoparathyroidism +MONDO:0015895 obsolete syndrome with hypoparathyroidism NANDO:2100124 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoparathyroidism +MONDO:0015895 obsolete syndrome with hypoparathyroidism NANDO:2200345 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoparathyroidism +MONDO:0015900 hypoaldosteronism disease NANDO:2100132 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoaldosteronism +MONDO:0015909 aplastic anemia NANDO:1200295 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aplastic anemia +MONDO:0015909 aplastic anemia NANDO:1200301 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Borderline between aplastic anemia and MDS +MONDO:0015909 aplastic anemia NANDO:2100201 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aplastic anemia +MONDO:0015909 aplastic anemia NANDO:2200693 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aplastic anemia +MONDO:0015924 pulmonary arterial hypertension NANDO:1200425 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary arterial hypertension +MONDO:0015924 pulmonary arterial hypertension NANDO:2100103 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary arterial hypertension +MONDO:0015924 pulmonary arterial hypertension NANDO:2200298 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary arterial hypertension +MONDO:0015929 thoracic malformation NANDO:2201008 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thoracic insufficiency syndrome +MONDO:0015943 eosinophilic granulomatosis with polyangiitis NANDO:1200264 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Eosinophilic granulomatosis with polyangiitis +MONDO:0015943 eosinophilic granulomatosis with polyangiitis NANDO:2200427 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Eosinophilic granulomatosis with polyangiitis +MONDO:0015947 inherited ichthyosis NANDO:1200609 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital ichthyosis +MONDO:0015947 inherited ichthyosis NANDO:2100283 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital ichthyosis +MONDO:0015988 multicystic dysplastic kidney NANDO:2200158 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multicystic dysplastic kidney +MONDO:0015993 cone-rod dystrophy NANDO:1200937 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cone-rod dystrophy +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 NANDO:1200649 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, kyphoscoliotic type +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 NANDO:2201259 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, kyphoscoliotic type +MONDO:0016006 Cockayne syndrome NANDO:1200677 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cockayne syndrome +MONDO:0016006 Cockayne syndrome NANDO:2200832 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cockayne syndrome +MONDO:0016019 Rasmussen subacute encephalitis NANDO:1200598 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rasmussen's encephalitis +MONDO:0016019 Rasmussen subacute encephalitis NANDO:2100246 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rasmussen's encephalitis +MONDO:0016019 Rasmussen subacute encephalitis NANDO:2200900 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rasmussen's encephalitis +MONDO:0016022 early myoclonic encephalopathy NANDO:1200594 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Early myoclonic encephalopathy +MONDO:0016025 myoclonic-astatic epilepsy NANDO:1200590 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epilepsy with myoclonic atonic seizures +MONDO:0016030 Evans syndrome NANDO:1200310 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Evans syndrome +MONDO:0016033 Cornelia de Lange syndrome NANDO:1200960 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cornelia de lange syndrome +MONDO:0016033 Cornelia de Lange syndrome NANDO:2200958 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cornelia de Lange syndrome +MONDO:0016054 cerebral malformation NANDO:2100217 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Brain malformation +MONDO:0016063 Cowden disease NANDO:2200918 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cowden syndrome +MONDO:0016068 fibrochondrogenesis NANDO:2201016 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Type II collagenopathy +MONDO:0016079 sporadic Creutzfeldt-Jakob disease NANDO:1200187 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sporadic Creutzfeldt-Jakob disease +MONDO:0016081 coronary arterial fistulas NANDO:2200296 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coronary artery fistula +MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency NANDO:2200586 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lesch-Nyhan syndrome +MONDO:0016089 infantile Krabbe disease NANDO:1200075 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile Krabbe disease +MONDO:0016089 infantile Krabbe disease NANDO:2201216 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile Krabbe disease +MONDO:0016091 adult Krabbe disease NANDO:1200077 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult Krabbe disease +MONDO:0016091 adult Krabbe disease NANDO:2201219 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult Krabbe disease +MONDO:0016107 myotonic dystrophy NANDO:1200495 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myotonic dystrophy +MONDO:0016107 myotonic dystrophy NANDO:2200864 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myotonic dystrophy +MONDO:0016110 obsolete non-dystrophic myopathy NANDO:1200496 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-dystrophic myotonia +MONDO:0016113 bulbospinal muscular atrophy NANDO:1200001 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal and bulbar muscular atrophy +MONDO:0016118 obsolete muscular glycogenosis NANDO:1200823 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Muscle glycogen storage disease +MONDO:0016129 eosinophilic gastroenteritis NANDO:1200457 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Eosinophilic gastroenteritis +MONDO:0016147 qualitative or quantitative defects of dystrophin NANDO:1200487 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystrophinopathies +MONDO:0016168 cryopyrin-associated periodic syndrome NANDO:1200465 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cryopyrin-associated periodic syndrome +MONDO:0016168 cryopyrin-associated periodic syndrome NANDO:2200432 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cryopyrin-associated periodic syndrome +MONDO:0016233 obsolete rare lymphatic system malformation NANDO:1200881 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Giant lymphatic malformation (cervicofacial lesion) +MONDO:0016239 cystinosis NANDO:1200161 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cystinosis +MONDO:0016239 cystinosis NANDO:2200571 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cystinosis +MONDO:0016241 alternating hemiplegia of childhood NANDO:1200403 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital adrenal hypoplasia +MONDO:0016241 alternating hemiplegia of childhood NANDO:1200525 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alternating hemiplegia of childhood +MONDO:0016241 alternating hemiplegia of childhood NANDO:2100239 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alternating hemiplegia of childhood +MONDO:0016241 alternating hemiplegia of childhood NANDO:2200357 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital adrenal hypoplasia +MONDO:0016241 alternating hemiplegia of childhood NANDO:2200883 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alternating hemiplegia of childhood +MONDO:0016242 hemoglobin C disease NANDO:2200635 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hemoglobin C disease +MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:1200473 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atypical hemolytic uremic syndrome +MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:1200474 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital atypical hemolytic uremic syndrome +MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:2200131 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atypical hemolytic uremic syndrome +MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:2200641 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atypical hemolytic uremic syndrome +MONDO:0016264 autoimmune hepatitis NANDO:1200441 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune hepatitis +MONDO:0016264 autoimmune hepatitis NANDO:1200442 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Typical autoimmune hepatitis +MONDO:0016264 autoimmune hepatitis NANDO:2100264 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune hepatitis +MONDO:0016281 46,XX ovotesticular disorder of sex development NANDO:2200387 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ovotesticular dsd +MONDO:0016295 neuronal ceroid lipofuscinosis NANDO:1200150 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuronal ceroid-lipofuscinosis +MONDO:0016295 neuronal ceroid lipofuscinosis NANDO:2200573 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuronal ceroid lipofuscinoses +MONDO:0016296 holoprosencephaly NANDO:2200819 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Holoprosencephaly +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:1200699 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete transposition of the great arteries +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:1200701 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete transposition of the great arteries (Group2) +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:1200703 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete transposition of the great arteries (Group4) +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:2100079 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenitally corrected transposition of the great arteries +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:2200259 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenitally corrected transposition of the great arteries +MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation NANDO:1200701 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete transposition of the great arteries (Group2) +MONDO:0016304 classic pantothenate kinase-associated neurodegeneration NANDO:1200535 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Classic pantothenate kinase-associated neurodegeneration +MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration NANDO:1200536 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atypical pantothenate kinase-associated neurodegeneration +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset NANDO:1200065 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult-onset Niemann-Pick disease type C +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset NANDO:2201209 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult-onset Niemann-Pick disease type C +MONDO:0016315 mucopolysaccharidosis type 2, severe form NANDO:1200098 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hunter syndrome type A +MONDO:0016315 mucopolysaccharidosis type 2, severe form NANDO:2201173 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type II, severe form +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form NANDO:1200099 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hunter syndrome type B +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form NANDO:2201171 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type II, attenuated form +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form NANDO:2201172 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type II, intermediate form +MONDO:0016318 progressive multifocal leukoencephalopathy NANDO:1200205 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive multifocal leukoencephalopathy +MONDO:0016345 non-familial restrictive cardiomyopathy NANDO:1200294 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Secondary restrictive cardiomyopathy +MONDO:0016349 congenital hydrocephalus NANDO:2200822 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hydrocephalus +MONDO:0016356 diffuse cutaneous systemic sclerosis NANDO:1201010 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diffuse cutaneous systemic sclerosis +MONDO:0016358 limited cutaneous systemic sclerosis NANDO:1201011 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Limited cutaneous systemic sclerosis +MONDO:0016367 dermatomyositis NANDO:1200274 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dermatomyositis +MONDO:0016383 nephrogenic diabetes insipidus NANDO:1200742 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital nephrogenic diabetes insipidus +MONDO:0016383 nephrogenic diabetes insipidus NANDO:2200326 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephrogenic diabetes insipidus +MONDO:0016391 neonatal diabetes mellitus NANDO:2200463 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neonatal diabetes mellitus +MONDO:0016407 oligomeganephronia NANDO:2200159 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oligomeganephronia +MONDO:0016410 central congenital hypothyroidism NANDO:1200390 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thyroid-stimulating hormone deficiency +MONDO:0016410 central congenital hypothyroidism NANDO:2200332 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thyroid-stimulating hormone deficiency +MONDO:0016410 central congenital hypothyroidism NANDO:2200340 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central hypothyroidism +MONDO:0016418 multiple system atrophy, cerebellar type NANDO:1200035 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple system atrophy, cerebellar type +MONDO:0016430 Balo concentric sclerosis NANDO:1200028 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Baló concentric sclerosis +MONDO:0016484 Usher syndrome type 2 NANDO:1200943 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Usher syndrome Type II +MONDO:0016485 Usher syndrome type 3 NANDO:1200944 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Usher syndrome Type III +MONDO:0016512 Kabuki syndrome NANDO:1200672 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kabuki syndrome +MONDO:0016512 Kabuki syndrome NANDO:2200956 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kabuki syndrome +MONDO:0016525 familial hyperaldosteronism NANDO:2200602 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial hypercholesterolemia +MONDO:0016532 Lennox-Gastaut syndrome NANDO:1200591 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lennox-Gastaut syndrome +MONDO:0016532 Lennox-Gastaut syndrome NANDO:2200879 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lennox-Gastaut syndrome +MONDO:0016535 hypohidrotic ectodermal dysplasia NANDO:2201005 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anhidrotic ectodermal dysplasia +MONDO:0016536 autosomal recessive lymphoproliferative disease NANDO:2200735 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CD27 deficiency +MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome NANDO:2200446 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IL10 deficiency +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency NANDO:1200786 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tetrahydrobiopterin deficiency +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency NANDO:2200594 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tetrahydrobiopterin deficiency +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency NANDO:2201076 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO BH4 deficiency +MONDO:0016575 primary ciliary dyskinesia NANDO:2100034 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary ciliary dyskinesia +MONDO:0016575 primary ciliary dyskinesia NANDO:2200203 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary ciliary dyskinesia +MONDO:0016575 primary ciliary dyskinesia NANDO:2200204 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kartagener syndrome +MONDO:0016581 conotruncal heart malformations NANDO:2200275 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Double-chambered right ventricle +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy NANDO:2100055 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Arrhythmogenic right ventricular cardiomyopathy or dysplasia +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy NANDO:2200230 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Arrhythmogenic right ventricular cardiomyopathy or dysplasia +MONDO:0016594 superficial siderosis NANDO:1200543 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Superficial siderosis +MONDO:0016597 obsolete generalized pustular psoriasis NANDO:1200240 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pustular psoriasis +MONDO:0016600 acute neonatal citrullinemia type I NANDO:2201094 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neonatal-onset argininosuccinate synthetase deficiency +MONDO:0016601 adult-onset citrullinemia type I NANDO:2201095 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Late-onset argininosuccinate synthetase deficiency +MONDO:0016602 citrin deficiency NANDO:1200978 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Citrin deficiency +MONDO:0016602 citrin deficiency NANDO:2200483 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Citrin deficiency +MONDO:0016603 citrullinemia type II NANDO:1200980 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult-onset type II citrullinemia +MONDO:0016620 primary hypertrophic osteoarthropathy NANDO:1200642 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pachydermoperiostosis +MONDO:0016620 primary hypertrophic osteoarthropathy NANDO:2100288 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pachydermoperiostosis +MONDO:0016620 primary hypertrophic osteoarthropathy NANDO:2201004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pachydermoperiostosis +MONDO:0016642 meningioma NANDO:2200094 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Meningioma +MONDO:0016684 anaplastic astrocytoma NANDO:2200086 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anaplastic astrocytoma +MONDO:0016686 diffuse astrocytoma NANDO:2200085 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diffuse astrocytoma +MONDO:0016691 pilocytic astrocytoma NANDO:2200084 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pilocytic astrocytoma +MONDO:0016695 oligodendroglioma NANDO:2200089 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oligodendroglioma +MONDO:0016698 ependymoma NANDO:2200088 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ependymoma +MONDO:0016723 pineocytoma NANDO:2200092 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pineocytoma +MONDO:0016730 gangliocytoma NANDO:2200097 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gangliocytoma +MONDO:0016733 ganglioglioma NANDO:2200096 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ganglioglioma +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA NANDO:2200524 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diseases due to mitochondrial DNA mutation +MONDO:0016812 dopa-responsive dystonia NANDO:1200516 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 5 +MONDO:0016812 dopa-responsive dystonia NANDO:2200885 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Segawa syndrome +MONDO:0016820 Moyamoya disease NANDO:1200183 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Moyamoya disease +MONDO:0016820 Moyamoya disease NANDO:2100228 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Moyamoya disease +MONDO:0016820 Moyamoya disease NANDO:2200850 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Moyamoya disease +MONDO:0016830 Emery-Dreifuss muscular dystrophy NANDO:1200492 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Emery-Dreifuss muscular dystrophy +MONDO:0016830 Emery-Dreifuss muscular dystrophy NANDO:2200857 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Emery-Dreifuss muscular dystrophy +MONDO:0016952 partial duplication of the long arm of chromosome 1 NANDO:1200958 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Partial trisomy 1q +MONDO:0016971 limb-girdle muscular dystrophy NANDO:1200490 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Limb-girdle muscular dystrophy +MONDO:0016971 limb-girdle muscular dystrophy NANDO:2200858 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Limb-girdle muscular dystrophy +MONDO:0016987 neuroacanthocytosis NANDO:1200013 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuroacanthocytosis +MONDO:0017025 Langerhans cell histiocytosis specific to childhood NANDO:2200031 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Langerhans cell histiocytosis +MONDO:0017029 Langerhans cell histiocytosis specific to adulthood NANDO:2200031 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Langerhans cell histiocytosis +MONDO:0017042 thanatophoric dysplasia NANDO:1200874 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thanatophoric dysplasia +MONDO:0017051 classic maple syrup urine disease NANDO:2201078 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Classic form maple syrup urine disease +MONDO:0017052 intermediate maple syrup urine disease NANDO:2201079 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intermediate maple syrup urine disease +MONDO:0017053 intermittent maple syrup urine disease NANDO:2201080 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intermittent maple syrup urine disease +MONDO:0017054 thiamine-responsive maple syrup urine disease NANDO:2201081 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thiamine-responsive maple syrup urine disease +MONDO:0017069 spina bifida cystica NANDO:1200509 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelomeningocele +MONDO:0017069 spina bifida cystica NANDO:2100215 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelomeningocele +MONDO:0017069 spina bifida cystica NANDO:2200814 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelomeningocele +MONDO:0017079 meningoencephalocele NANDO:2200813 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Meningoencephalocele +MONDO:0017096 isolated focal cortical dysplasia type Ia NANDO:1200565 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Focal cortical dysplasia type 1a +MONDO:0017097 isolated focal cortical dysplasia type Ib NANDO:1200566 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Focal cortical dysplasia type 1b +MONDO:0017098 isolated focal cortical dysplasia type Ic NANDO:1200567 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Focal cortical dysplasia type 1c +MONDO:0017101 isolated focal cortical dysplasia type IIa NANDO:1200568 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Focal cortical dysplasia type 2a +MONDO:0017102 isolated focal cortical dysplasia type IIb NANDO:1200569 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Focal cortical dysplasia type 2b +MONDO:0017147 idiopathic pulmonary arterial hypertension NANDO:2201046 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic pulmonary arterial hypertension +MONDO:0017148 heritable pulmonary arterial hypertension NANDO:2201047 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial pulmonary arterial hypertension +MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease NANDO:2201048 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Secondary pulmonary arterial hypertension +MONDO:0017160 behavioral variant of frontotemporal dementia NANDO:1200549 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Behavioral variant frontotemporal dementia +MONDO:0017169 multiple endocrine neoplasia NANDO:2100148 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple endocrine neoplasia +MONDO:0017182 familial hyperinsulinism NANDO:2100143 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperinsulinemic hypoglycemia +MONDO:0017182 familial hyperinsulinism NANDO:2200399 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hyperinsulinemia +MONDO:0017198 osteopetrosis NANDO:1200998 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteopetrosis +MONDO:0017198 osteopetrosis NANDO:2201013 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteopetrosis +MONDO:0017226 Pelizaeus-Merzbacher-like disease NANDO:1200577 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pelizaeus-Merzbacher like disease +MONDO:0017226 Pelizaeus-Merzbacher-like disease NANDO:2201289 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pelizaeus-Merzbacher like disease +MONDO:0017234 inherited prion disease NANDO:1200188 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Genetic prion diseases +MONDO:0017236 rapidly progressive glomerulonephritis NANDO:1200714 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rapidly progressive glomerulonephritis +MONDO:0017236 rapidly progressive glomerulonephritis NANDO:1200723 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crescentic glomerulonephritis +MONDO:0017265 autosomal recessive congenital ichthyosis NANDO:1200615 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis +MONDO:0017265 autosomal recessive congenital ichthyosis NANDO:2200991 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal recessive congenital ichthyosis +MONDO:0017266 keratinopathic ichthyosis NANDO:1200610 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Keratinopathic ichthyosis +MONDO:0017266 keratinopathic ichthyosis NANDO:2200987 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Keratinopathic ichthyosis +MONDO:0017276 frontotemporal dementia NANDO:1200548 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Frontotemporal lobar degeneration +MONDO:0017278 autoimmune polyendocrinopathy NANDO:2100125 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune polyendocrinopathy +MONDO:0017287 IgG4-related disease NANDO:1200923 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IgG4-related disease +MONDO:0017287 IgG4-related disease NANDO:1200924 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IgG4-related disease +MONDO:0017314 Ehlers-Danlos syndrome, vascular type NANDO:1200648 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, vascular type +MONDO:0017314 Ehlers-Danlos syndrome, vascular type NANDO:2201258 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, vascular type +MONDO:0017319 hereditary elliptocytosis NANDO:2200630 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary elliptocytosis +MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency NANDO:2200536 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Phosphoenolpyruvate carboxykinase deficiency +MONDO:0017353 neonatal glycine encephalopathy NANDO:1200985 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neonatal nonketotic hyperglycinemia +MONDO:0017354 infantile glycine encephalopathy NANDO:1200986 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile nonketotic hyperglycinemia +MONDO:0017359 3-methylglutaconic aciduria NANDO:1200989 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylglutaconic aciduria +MONDO:0017359 3-methylglutaconic aciduria NANDO:2200496 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylglutaconic aciduria +MONDO:0017361 congenital rubella syndrome NANDO:2200890 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital rubella syndrome +MONDO:0017364 POEMS syndrome NANDO:1200033 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crow-Fukase syndrome +MONDO:0017380 juvenile polyposis syndrome NANDO:2200916 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile polyposis +MONDO:0017381 congenital herpes simplex virus infection NANDO:2200889 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital herpes simplex virus infection +MONDO:0017385 malignant migrating partial seizures of infancy NANDO:1200595 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epilepsy of infancy with migrating focal seizures +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria NANDO:1200787 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tetrahydrobiopterin-responsive hyperphenylalaninemia +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria NANDO:2201077 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO BH4-responsive hyperphenylalaninemia +MONDO:0017398 3MC syndrome NANDO:2200792 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Malpuech-Michels-Mingarelli-Carnevale syndrome +MONDO:0017409 fetal cytomegalovirus syndrome NANDO:2200891 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital cytomegalovirus infection +MONDO:0017410 porencephaly NANDO:1201074 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Porencephaly +MONDO:0017570 leukocyte adhesion deficiency NANDO:1200355 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leukocyte adhesion deficiency +MONDO:0017570 leukocyte adhesion deficiency NANDO:2200755 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leukocyte adhesion deficiency +MONDO:0017574 chronic intestinal pseudoobstruction NANDO:1200458 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic idiopathic intestinal pseudo-obstruction +MONDO:0017574 chronic intestinal pseudoobstruction NANDO:2200946 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic idiopathic intestinal pseudo-obstruction +MONDO:0017608 obsolete dystrophic epidermolysis bullosa NANDO:2201343 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystrophic epidermolysis bullosa +MONDO:0017610 epidermolysis bullosa simplex NANDO:1200235 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epidermolysis bullosa simplex +MONDO:0017610 epidermolysis bullosa simplex NANDO:2201341 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epidermolysis bullosa simplex +MONDO:0017610 epidermolysis bullosa simplex NANDO:2201375 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal dominant epidermolysis bullosa simplex +MONDO:0017612 junctional epidermolysis bullosa NANDO:1200236 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Junctional epidermolysis bullosa +MONDO:0017612 junctional epidermolysis bullosa NANDO:2201342 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Junctional epidermolysis bullosa +MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency NANDO:1200824 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type 0 +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset NANDO:1200139 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Classic infantile Pompe disease +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset NANDO:2201229 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Classic infantile Pompe disease +MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form NANDO:2201159 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IV, hepatic form +MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form NANDO:2201160 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IV, non-progressive hepatic form +MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form NANDO:2201161 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IV, fatal neuromuscular form +MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form NANDO:2201162 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IV, childhood combined hepatic and myopathic form +MONDO:0017708 mevalonate kinase deficiency NANDO:2200436 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper IgD syndrome +MONDO:0017716 disorder of carnitine cycle and carnitine transport NANDO:1200969 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carnitine cycle disorders +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes NANDO:2200522 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial respiratory chain disorders +MONDO:0017720 GM2 gangliosidosis NANDO:1200070 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM2 gangliosidosis +MONDO:0017720 GM2 gangliosidosis NANDO:2200559 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM2 gangliosidosis +MONDO:0017729 metachromatic leukodystrophy, late infantile form NANDO:1200079 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Late infantile metachromatic leukodystrophy +MONDO:0017729 metachromatic leukodystrophy, late infantile form NANDO:2201202 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Metachromatic leukodystrophy, late infantile form +MONDO:0017730 metachromatic leukodystrophy, adult form NANDO:1200081 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult metachromatic leukodystrophy +MONDO:0017730 metachromatic leukodystrophy, adult form NANDO:2201204 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Metachromatic leukodystrophy, adult form +MONDO:0017732 alpha-mannosidosis, infantile form NANDO:1200127 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-mannosidosis, infantile form +MONDO:0017732 alpha-mannosidosis, infantile form NANDO:2201188 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-mannosidosis, infantile form +MONDO:0017733 alpha-mannosidosis, adult form NANDO:1200128 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-mannosidosis, adult form +MONDO:0017733 alpha-mannosidosis, adult form NANDO:2201189 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-mannosidosis, adult form +MONDO:0017734 sialidosis NANDO:1200116 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sialidosis +MONDO:0017734 sialidosis NANDO:2200556 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sialidosis +MONDO:0017737 intermediate severe Salla disease NANDO:1200148 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intermediate severe Salla disease +MONDO:0017737 intermediate severe Salla disease NANDO:2201238 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intermediate severe Salla disease +MONDO:0017746 atypical Rett syndrome NANDO:1200605 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atypical Rett syndrome +MONDO:0017773 hypoalphalipoproteinemia NANDO:2200605 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO HDL deficiency +MONDO:0017778 lamellar ichthyosis NANDO:1200617 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lamellar ichthyosis +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency NANDO:1200134 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schindler disease +MONDO:0017816 primary systemic amyloidosis NANDO:1200209 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic amyloidosis +MONDO:0017827 malignant peripheral nerve sheath tumor NANDO:2200102 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Malignant neurinoma +MONDO:0017838 sclerosteosis NANDO:2201369 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sclerosteosis +MONDO:0017842 Senior-Loken syndrome NANDO:1201049 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Senior-Loken syndrome +MONDO:0017858 acute erythroid leukemia NANDO:2200010 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute erythremia +MONDO:0017864 congenital pulmonary veins atresia or stenosis NANDO:1200964 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital pulmonary vein stenosis +MONDO:0017864 congenital pulmonary veins atresia or stenosis NANDO:2200273 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary venous obstruction +MONDO:0017870 supravalvular pulmonary stenosis NANDO:2200278 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Supravalvular pulmonary stenosis +MONDO:0017910 dehydrated hereditary stomatocytosis NANDO:2200633 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Stomatocytic xerocytosis +MONDO:0017979 autoimmune lymphoproliferative syndrome NANDO:1200352 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune lymphoproliferative syndrome +MONDO:0017979 autoimmune lymphoproliferative syndrome NANDO:2200726 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune lymphoproliferative syndrome +MONDO:0017986 disorder of plasmalogens biosynthesis NANDO:1200770 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Plasmalogen biosynthesis enzyme deficiency +MONDO:0017987 syringomyelia NANDO:1200506 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Syringomyelia +MONDO:0017987 syringomyelia NANDO:1200507 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Symptomatic syringomyelia +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia NANDO:2200216 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polymorphic ventricular premature beat +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia NANDO:2200221 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Catecholaminergic polymorphic ventricular tachycardia +MONDO:0017991 Takayasu arteritis NANDO:1200251 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Takayasu arteritis +MONDO:0017991 Takayasu arteritis NANDO:2200423 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Takayasu arteritis +MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration NANDO:1200541 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fatty acid hydroxylase-associated neurodegeneration +MONDO:0018018 wild type ATTR amyloidosis NANDO:1200212 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Transthyretin-related senile systemic amyloidosis +MONDO:0018029 congenital factor XIII deficiency NANDO:2200681 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor XIII deficiency +MONDO:0018035 obsolete syndrome with combined immunodeficiency NANDO:2100203 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Combined immunodeficiency +MONDO:0018037 hyper-IgE syndrome NANDO:1200340 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper-IgE syndrome +MONDO:0018037 hyper-IgE syndrome NANDO:2200713 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper-IgE syndrome +MONDO:0018048 heparin-induced thrombocytopenia NANDO:2200648 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Heparin-induced thrombocytopenia +MONDO:0018053 trichothiodystrophy NANDO:1200627 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Trichothiodystrophy +MONDO:0018065 isolated trigonocephaly NANDO:2201305 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-syndromic metopic craniosynostosis +MONDO:0018068 trisomy 13 NANDO:2200964 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Trisomy 13 +MONDO:0018071 trisomy 18 NANDO:2200963 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Trisomy 18 +MONDO:0018072 persistent truncus arteriosus NANDO:1200693 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Truncus arteriosus communis +MONDO:0018072 persistent truncus arteriosus NANDO:2200261 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Truncus arteriosus communis +MONDO:0018088 familial Mediterranean fever NANDO:1200863 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial Mediterranean fever +MONDO:0018088 familial Mediterranean fever NANDO:2200431 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial Mediterranean fever +MONDO:0018089 double outlet right ventricle NANDO:1200710 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Double outlet right ventricle +MONDO:0018089 double outlet right ventricle NANDO:2100076 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Double outlet right ventricle +MONDO:0018089 double outlet right ventricle NANDO:2200256 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Double outlet right ventricle +MONDO:0018090 double outlet left ventricle NANDO:2100077 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Double-outlet left ventricle +MONDO:0018090 double outlet left ventricle NANDO:2200257 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Double-outlet left ventricle +MONDO:0018097 West syndrome NANDO:1200592 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO West syndrome +MONDO:0018097 West syndrome NANDO:2200878 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO West syndrome +MONDO:0018105 Wolfram syndrome NANDO:1200757 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Wolfram syndrome +MONDO:0018112 isolated scaphocephaly NANDO:2201302 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-syndromic sagittal craniosynostosis +MONDO:0018149 GM1 gangliosidosis NANDO:1200066 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM1 gangliosidosis +MONDO:0018149 GM1 gangliosidosis NANDO:2200558 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM1 Gangliosidosis +MONDO:0018150 Gaucher disease NANDO:1200056 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gaucher disease +MONDO:0018150 Gaucher disease NANDO:2200562 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gaucher disease +MONDO:0018153 Erdheim-Chester disease NANDO:2200038 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Erdheim-Chester disease +MONDO:0018155 lateral sclerosis NANDO:1200008 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary lateral sclerosis +MONDO:0018158 mitochondrial DNA depletion syndrome NANDO:2200523 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial DNA depletion syndrome +MONDO:0018158 mitochondrial DNA depletion syndrome NANDO:2200528 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diseases due to mitochondrial DNA deletion +MONDO:0018170 idiopathic nephrotic syndrome NANDO:1200719 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary nephrotic syndrome +MONDO:0018175 combined deficiency of factor V and factor VIII NANDO:2200686 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Combined deficiency of coagulation factors V and VIII +MONDO:0018177 glioblastoma NANDO:2200087 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glioblastoma +MONDO:0018178 intestinal lymphangiectasia NANDO:2100256 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intestinal lymphangiectasia +MONDO:0018178 intestinal lymphangiectasia NANDO:2200914 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intestinal lymphangiectasia +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion NANDO:1200552 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute encephalopathy with biphasic seizures and late reduced diffusion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion NANDO:2100247 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute encephalopathy with biphasic seizures and late reduced diffusion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion NANDO:2200901 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute encephalopathy with biphasic seizures and late reduced diffusion +MONDO:0018209 Alexander disease type I NANDO:1200555 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alexander disease type I +MONDO:0018210 Alexander disease type II NANDO:1200556 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alexander disease type II +MONDO:0018229 Stevens-Johnson syndrome NANDO:1200245 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Stevens-Johnson syndrome +MONDO:0018229 Stevens-Johnson syndrome NANDO:2100290 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Stevens-Johnson syndrome +MONDO:0018229 Stevens-Johnson syndrome NANDO:2201006 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Stevens-Johnson syndrome +MONDO:0018240 TRPV4-related bone disorder NANDO:2201021 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency NANDO:1201020 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type IX +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency NANDO:2200544 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IX +MONDO:0018271 peripheral primitive neuroectodermal tumor NANDO:2200054 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primitive neuroectodermal tumors +MONDO:0018271 peripheral primitive neuroectodermal tumor NANDO:2200055 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peripheral primitive neuroectodermal tumors +MONDO:0018301 interstitial cystitis NANDO:1200743 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Interstitial cystitis (Hunner type) +MONDO:0018305 chronic granulomatous disease NANDO:1200357 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic granulomatous disease +MONDO:0018305 chronic granulomatous disease NANDO:2200757 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic granulomatous disease +MONDO:0018306 Griscelli syndrome NANDO:1200640 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Griscelli syndrome +MONDO:0018307 neurodegeneration with brain iron accumulation NANDO:2100241 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurodegeneration with brain iron accumulation +MONDO:0018309 Hirschsprung disease NANDO:1200903 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hirschsprung disease +MONDO:0018309 Hirschsprung disease NANDO:2200945 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hirschsprung disease +MONDO:0018309 Hirschsprung disease NANDO:2200948 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital Isolated Hypoganglionosis +MONDO:0018310 Langerhans cell histiocytosis NANDO:2200031 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Langerhans cell histiocytosis +MONDO:0018328 homozygous familial hypercholesterolemia NANDO:1200394 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Homozygous familial hypercholesterolemia +MONDO:0018328 homozygous familial hypercholesterolemia NANDO:2201255 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Homozygous familial hypercholesterolemia +MONDO:0018348 obsolete polyglucosan body myopathy type 1 NANDO:2200456 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO RBCK1 deficiency +MONDO:0018438 eosinophilic gastrointestinal disease NANDO:1200454 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Eosinophilic gastrointestinal disorders +MONDO:0018438 eosinophilic gastrointestinal disease NANDO:2200807 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Eosinophilic gastrointestinal disorders +MONDO:0018467 nephropathic infantile cystinosis NANDO:1200162 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephropathic cystinosis +MONDO:0018467 nephropathic infantile cystinosis NANDO:2201234 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephropathic cystinosis +MONDO:0018470 renal agenesis NANDO:2200156 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renal aplasia +MONDO:0018479 congenital adrenal hyperplasia NANDO:1200396 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital adrenal enzyme deficiency +MONDO:0018479 congenital adrenal hyperplasia NANDO:1200397 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital lipoid adrenal hyperplasia +MONDO:0018479 congenital adrenal hyperplasia NANDO:2100134 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital adrenal hyperplasia +MONDO:0018479 congenital adrenal hyperplasia NANDO:2200370 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital lipoid adrenal hyperplasia +MONDO:0018483 secondary pulmonary alveolar proteinosis NANDO:1200749 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Secondary Pulmonary Alveolar Proteinosis +MONDO:0018542 severe congenital neutropenia NANDO:1200353 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Severe congenital neutropenia +MONDO:0018542 severe congenital neutropenia NANDO:2200745 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Severe congenital neutropenia +MONDO:0018544 adrenoleukodystrophy NANDO:1200165 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adrenoleukodystrophy +MONDO:0018544 adrenoleukodystrophy NANDO:2200576 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adrenoleukodystrophy +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis NANDO:1200426 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis NANDO:1200428 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary capillary hemangiomatosis +MONDO:0018555 hypogonadotropic hypogonadism NANDO:1200388 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypogonadotropic hypogonadism +MONDO:0018555 hypogonadotropic hypogonadism NANDO:2100138 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypogonadotropic hypogonadism +MONDO:0018555 hypogonadotropic hypogonadism NANDO:2200382 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypogonadotropic hypogonadism +MONDO:0018570 hypophosphatasia NANDO:1200656 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypophosphatasia +MONDO:0018570 hypophosphatasia NANDO:2201012 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypophosphatasia +MONDO:0018598 obsolete neonatal adrenoleukodystrophy NANDO:1200761 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neonatal adrenoleukodystrophy +MONDO:0018612 congenital hypothyroidism NANDO:2200333 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hypothyroidism +MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome NANDO:2200325 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adipsic hypernatremia +MONDO:0018638 pseudohypoaldosteronism NANDO:2100133 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoaldosteronism +MONDO:0018638 pseudohypoaldosteronism NANDO:2200367 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoaldosteronism +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:1200300 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:1200311 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Paroxysmal nocturnal hemoglobinuria +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:2100182 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Paroxysmal nocturnal haemoglobinuria +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:2200621 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Paroxysmal nocturnal hemoglobinuria +MONDO:0018645 IgG4-related sclerosing cholangitis NANDO:1200928 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IgG4-related sclerosing cholangitis +MONDO:0018646 sclerosing cholangitis NANDO:1200440 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary sclerosing cholangitis +MONDO:0018646 sclerosing cholangitis NANDO:2100265 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary sclerosing cholangitis +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome NANDO:1200583 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome NANDO:2201295 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum +MONDO:0018666 hepatoblastoma NANDO:2200046 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatoblastoma +MONDO:0018671 IgG4-related kidney disease NANDO:1200930 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IgG4-related kidney disease +MONDO:0018686 acquired Creutzfeldt-Jakob disease NANDO:1200192 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Environmentally acquired Creutzfeldt-Jakob disease +MONDO:0018737 catastrophic antiphospholipid syndrome NANDO:1200270 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Catastrophic antiphospholipid syndrome +MONDO:0018746 mucous membrane pemphigoid NANDO:1200634 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucous membrane pemphigoid +MONDO:0018747 acquired epidermolysis bullosa NANDO:1200635 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epidermolysis bullosa acquisita +MONDO:0018762 non-acquired combined pituitary hormone deficiency NANDO:2200312 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hypopituitarism +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene NANDO:2100261 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic nonspecific multiple ulcers of the small intestine +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene NANDO:2200925 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic nonspecific multiple ulcers of the small intestine +MONDO:0018768 familial cold autoinflammatory syndrome NANDO:1200466 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial cold autoinflammatorysyndrome +MONDO:0018768 familial cold autoinflammatory syndrome NANDO:2200449 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO NLRP12-associated periodic syndrome +MONDO:0018768 familial cold autoinflammatory syndrome NANDO:2200454 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO NLRP12-associated periodic syndrome +MONDO:0018768 familial cold autoinflammatory syndrome NANDO:2201068 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO familial cold autoinflammatory syndrome +MONDO:0018778 intermediate Charcot-Marie-Tooth disease NANDO:1200019 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intermediate Charcot-Marie-Tooth disease +MONDO:0018781 KID syndrome NANDO:1200621 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Keratitis-ichthyosis-deafness syndrome +MONDO:0018781 KID syndrome NANDO:2200996 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Keratitis-ichthyosis-deafness syndrome +MONDO:0018800 Kallmann syndrome NANDO:2200381 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kallmann syndrome +MONDO:0018808 Caroli syndrome NANDO:2200934 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Caroli disease +MONDO:0018824 pyoderma gangrenosum NANDO:2200437 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pyogenic arthritis, pyoderma gangrenosum, acne syndrome +MONDO:0018838 lissencephaly spectrum disorders NANDO:1200574 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuronal migration defects +MONDO:0018838 lissencephaly spectrum disorders NANDO:2200817 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lissencephaly +MONDO:0018840 isolated congenital hepatic fibrosis NANDO:2100267 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hepatic fibrosis +MONDO:0018840 isolated congenital hepatic fibrosis NANDO:2200936 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hepatic fibrosis +MONDO:0018866 Aicardi-Goutieres syndrome NANDO:1200996 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aicardi-Goutières Syndrome +MONDO:0018866 Aicardi-Goutieres syndrome NANDO:2100244 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aicardi-Goutières Syndrome +MONDO:0018866 Aicardi-Goutieres syndrome NANDO:2200893 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aicardi-Goutières Syndrome +MONDO:0018868 metachromatic leukodystrophy NANDO:1200078 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Metachromatic leukodystrophy +MONDO:0018868 metachromatic leukodystrophy NANDO:2200560 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Metachromatic leukodystrophy +MONDO:0018869 cobblestone lissencephaly NANDO:1201072 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cobblestone brain malformation +MONDO:0018872 acute megakaryoblastic leukemia NANDO:2200011 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute megakaryoblastic leukemia +MONDO:0018878 branchiootic syndrome NANDO:1200675 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Branchio-oto-renal syndrome +MONDO:0018881 myelodysplastic syndrome NANDO:2100003 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelodysplastic syndrome +MONDO:0018881 myelodysplastic syndrome NANDO:2200019 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelodysplastic syndrome +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy NANDO:1200859 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Generalized congenital lipodystrophy +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy NANDO:2200465 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lipoatrophic diabetes +MONDO:0018896 thrombotic thrombocytopenic purpura NANDO:1200316 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thrombotic thrombocytopenic purpura +MONDO:0018896 thrombotic thrombocytopenic purpura NANDO:2100189 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thrombotic thrombocytopenic purpura +MONDO:0018896 thrombotic thrombocytopenic purpura NANDO:2200649 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thrombotic thrombocytopenic purpura +MONDO:0018901 left ventricular noncompaction NANDO:2200231 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-compaction of the ventricle +MONDO:0018904 primary membranoproliferative glomerulonephritis NANDO:1200725 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary membranoproliferative glomerulonephritis +MONDO:0018904 primary membranoproliferative glomerulonephritis NANDO:2200123 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Membranoproliferative glomerulonephritis +MONDO:0018907 craniopharyngioma NANDO:2200091 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Craniopharyngioma +MONDO:0018910 oculocutaneous albinism NANDO:1200637 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oculocutaneous albinism +MONDO:0018910 oculocutaneous albinism NANDO:1200641 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-syndromic oculocutaneous albinism +MONDO:0018910 oculocutaneous albinism NANDO:2200986 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oculocutaneous albinism +MONDO:0018911 maturity-onset diabetes of the young NANDO:2200462 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maturity-onset diabetes of the young +MONDO:0018919 McCune-Albright syndrome NANDO:2200412 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO McCune-Albright syndrome +MONDO:0018922 cold agglutinin disease NANDO:1200307 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cold agglutinin disease +MONDO:0018922 cold agglutinin disease NANDO:2200618 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cold agglutinin disease +MONDO:0018923 22q11.2 deletion syndrome NANDO:1200339 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thymus hypoplasia +MONDO:0018923 22q11.2 deletion syndrome NANDO:1200688 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 22q11.2 deletion syndrome +MONDO:0018923 22q11.2 deletion syndrome NANDO:2200712 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thymus hypoplasia +MONDO:0018931 mucolipidosis type III, alpha/beta NANDO:1200125 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucolipidosis III +MONDO:0018931 mucolipidosis type III, alpha/beta NANDO:2200568 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucolipidosis III +MONDO:0018937 mucopolysaccharidosis type 3 NANDO:1200100 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sanfilippo disease +MONDO:0018937 mucopolysaccharidosis type 3 NANDO:2200549 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type III +MONDO:0018938 mucopolysaccharidosis type 4 NANDO:1200105 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Morquio syndrome +MONDO:0018938 mucopolysaccharidosis type 4 NANDO:2200550 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type IV +MONDO:0018940 congenital myasthenic syndrome NANDO:1200021 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital myasthenic syndrome +MONDO:0018945 McLeod neuroacanthocytosis syndrome NANDO:1200015 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO McLeod syndrome +MONDO:0018947 centronuclear myopathy NANDO:1200481 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myotubular myopathy +MONDO:0018947 centronuclear myopathy NANDO:1200482 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Centronuclear myopathy +MONDO:0018947 centronuclear myopathy NANDO:2200867 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myotubular myopathy +MONDO:0018948 multiminicore myopathy NANDO:1200480 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Minicore myopathy +MONDO:0018948 multiminicore myopathy NANDO:2200871 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multicore disease +MONDO:0018949 distal myopathy NANDO:1200216 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Distal myopathy +MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency NANDO:2200495 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3-methylcrotonyl-CoA carboxylase deficiency +MONDO:0018954 Loeys-Dietz syndrome NANDO:2200969 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Loeys-Dietz syndrome +MONDO:0018958 nemaline myopathy NANDO:1200478 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nemaline myopathy +MONDO:0018958 nemaline myopathy NANDO:2200869 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nemaline myopathy +MONDO:0018959 potassium-aggravated myotonia NANDO:1200500 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sodium channel myotonia +MONDO:0018960 congenital primary megaureter NANDO:2200184 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megaureter +MONDO:0018965 Alport syndrome NANDO:1200712 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alport's syndrome +MONDO:0018965 Alport syndrome NANDO:2200126 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alport syndrome +MONDO:0018974 paraneoplastic pemphigus NANDO:1200231 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Paraneoplastic pemphigus +MONDO:0018975 neurofibromatosis type 1 NANDO:1200225 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurofibromatosis +MONDO:0018975 neurofibromatosis type 1 NANDO:1200226 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurofibromatosis type 1 +MONDO:0018975 neurofibromatosis type 1 NANDO:2100287 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO von Recklinghausen's disease +MONDO:0018975 neurofibromatosis type 1 NANDO:2201003 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO von Recklinghausen's disease +MONDO:0018979 multifocal motor neuropathy NANDO:1200031 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multifocal motor neuropathy +MONDO:0018982 Niemann-Pick disease type C NANDO:1200063 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Niemann-Pick disease type C +MONDO:0018993 Charcot-Marie-Tooth disease type 2 NANDO:1200018 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Charcot-Marie-Tooth disease type 2 +MONDO:0018997 Noonan syndrome NANDO:1200680 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Noonan syndrome +MONDO:0018997 Noonan syndrome NANDO:2200413 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Noonan syndrome +MONDO:0018999 LCAT deficiency NANDO:1200852 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lecithin cholesterol acyltransferase deficiency +MONDO:0019003 multiple endocrine neoplasia type 2 NANDO:2200406 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple endocrine neoplasia type 2 +MONDO:0019004 kidney Wilms tumor NANDO:2200043 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Wilms tumour +MONDO:0019005 nephronophthisis NANDO:1201036 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephronophthisis +MONDO:0019005 nephronophthisis NANDO:2100015 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephronophthisis +MONDO:0019005 nephronophthisis NANDO:2200140 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephronophthisis +MONDO:0019005 nephronophthisis NANDO:2200170 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Medullary cystic kidney +MONDO:0019009 isolated focal cortical dysplasia NANDO:1200564 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Focal cortical dysplasia +MONDO:0019011 Charcot-Marie-Tooth disease type 1 NANDO:1200017 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Charcot-Marie-Tooth disease type 1 +MONDO:0019012 Carpenter syndrome NANDO:2200847 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carpenter syndrome +MONDO:0019019 osteogenesis imperfecta NANDO:1200873 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteogenesis imperfecta +MONDO:0019019 osteogenesis imperfecta NANDO:2201011 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteogenesis imperfecta +MONDO:0019029 segmental odontomaxillary dysplasia NANDO:1200561 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Septo-optic dysplasia +MONDO:0019035 pancreatoblastoma NANDO:2200082 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pancreatoblastoma +MONDO:0019037 progressive supranuclear palsy NANDO:1200009 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive supranuclear palsy +MONDO:0019040 chromosomal disorder NANDO:1100014 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chromosome abnormality +MONDO:0019040 chromosomal disorder NANDO:2100279 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chromosome abnormality +MONDO:0019040 chromosomal disorder NANDO:2100280 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chromosome abnormality +MONDO:0019046 leukodystrophy NANDO:1200575 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hypomyelinating leukodystrophy +MONDO:0019046 leukodystrophy NANDO:2200836 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hypomyelinating leukodystrophy +MONDO:0019052 inborn errors of metabolism NANDO:2100159 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Inborn errors of metabolism +MONDO:0019053 peroxisomal disease NANDO:1200758 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peroxisomal disorder +MONDO:0019053 peroxisomal disease NANDO:2100166 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peroxisomal disorder +MONDO:0019056 neuromuscular disease NANDO:1100001 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuromuscular disease +MONDO:0019056 neuromuscular disease NANDO:2100214 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuromuscular disease +MONDO:0019064 hereditary spastic paraplegia NANDO:1200052 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary spastic paraplegia +MONDO:0019065 amyloidosis NANDO:2200138 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Amyloid nephropathy +MONDO:0019079 proximal spinal muscular atrophy NANDO:2100231 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal muscular atrophy +MONDO:0019082 bullous pemphigoid NANDO:1200632 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pemphigoid (including Epidermolysis bullosa acquisita) +MONDO:0019082 bullous pemphigoid NANDO:1200633 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bullous pemphigoid +MONDO:0019100 neuromyelitis optica NANDO:1200027 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuromyelitis optica spectrum disorders +MONDO:0019100 neuromyelitis optica NANDO:2201322 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuromyelitis optica +MONDO:0019123 continuous spikes and waves during sleep NANDO:1200601 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epileptic encephalopathy with continuous spike-and-wave during sleep +MONDO:0019124 microscopic polyangiitis NANDO:1200262 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Microscopic polyangiitis +MONDO:0019124 microscopic polyangiitis NANDO:2200426 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Microscopic polyangiitis +MONDO:0019125 relapsing polychondritis NANDO:1200283 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Relapsing polychondritis +MONDO:0019125 relapsing polychondritis NANDO:2100154 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Relapsing Polychondritis +MONDO:0019125 relapsing polychondritis NANDO:2200428 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Relapsing polychondritis +MONDO:0019127 polymyositis NANDO:1200276 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polymyositis +MONDO:0019139 acquired hemophilia NANDO:1200898 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired hemophilia A +MONDO:0019142 inherited porphyria NANDO:2200610 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital porphyria +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency NANDO:1201080 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Protein C deficiency +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency NANDO:2100197 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Protein C deficiency +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency NANDO:2200689 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Protein C deficiency +MONDO:0019146 inherited susceptibility to mycobacterial diseases NANDO:1200359 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mendelian susceptibility to mycobacterial disease +MONDO:0019146 inherited susceptibility to mycobacterial diseases NANDO:2200759 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mendelian susceptibility to mycobacterial disease +MONDO:0019148 Wolman disease NANDO:1200142 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acid lipase deficiency +MONDO:0019148 Wolman disease NANDO:1200143 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Wolman disease +MONDO:0019148 Wolman disease NANDO:2200570 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acid lipase deficiency +MONDO:0019148 Wolman disease NANDO:2201232 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Wolman disease +MONDO:0019149 cholesteryl ester storage disease NANDO:1200144 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cholesterol ester storage disease +MONDO:0019149 cholesteryl ester storage disease NANDO:2201233 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cholesterol ester storage disease +MONDO:0019154 androgen insensitivity syndrome NANDO:2200391 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Androgen insensitivity syndrome +MONDO:0019161 pseudohypoaldosteronism type 1 NANDO:2200368 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoaldosteronism type I +MONDO:0019162 pseudohypoaldosteronism type 2 NANDO:2200369 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoaldosteronism type II +MONDO:0019165 central precocious puberty NANDO:1200381 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central precocious puberty +MONDO:0019165 central precocious puberty NANDO:2200377 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gonadotropin-dependent precocious puberty +MONDO:0019169 pyruvate dehydrogenase deficiency NANDO:2200518 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pyruvate dehydrogenase complex deficiency +MONDO:0019170 polyarteritis nodosa NANDO:1200261 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polyarteritis nodosa +MONDO:0019170 polyarteritis nodosa NANDO:2200425 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polyangiitis nodosa +MONDO:0019171 familial long QT syndrome NANDO:2200228 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Long qt syndrome +MONDO:0019172 aniridia NANDO:1201001 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aniridia +MONDO:0019174 obsolete infantile Refsum disease NANDO:1200762 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile Refsum disease +MONDO:0019175 primary lymphedema NANDO:2201031 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary lymphedema +MONDO:0019180 hereditary hemorrhagic telangiectasia NANDO:1200744 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osler disease +MONDO:0019180 hereditary hemorrhagic telangiectasia NANDO:2100296 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary hemorrhagic telangiectasia +MONDO:0019180 hereditary hemorrhagic telangiectasia NANDO:2201034 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary hemorrhagic telangiectasia +MONDO:0019188 Rubinstein-Taybi syndrome NANDO:1200461 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rubinstein-Taybi syndrome +MONDO:0019188 Rubinstein-Taybi syndrome NANDO:2200955 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rubinstein-Taybi syndrome +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis NANDO:1200929 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IgG4-related dacryoadenitis and sialadenitis +MONDO:0019193 acquired generalized lipodystrophy NANDO:1200860 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired generalized lipodystrophy +MONDO:0019200 retinitis pigmentosa NANDO:1200431 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Retinitis pigmentosa +MONDO:0019203 acute interstitial pneumonia NANDO:1200420 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute interstitial pneumonia +MONDO:0019208 Bickerstaff brainstem encephalitis NANDO:1200551 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bickerstaff's brainstem encephalitis +MONDO:0019214 inborn carbohydrate metabolic disorder NANDO:2100164 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disorder of carbohydrate metabolism +MONDO:0019218 inborn disorder of bile acid synthesis NANDO:2200506 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Inborn errors of bile acid metabolism +MONDO:0019233 disorder of peroxisomal beta oxidation NANDO:1200764 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peroxisomal beta-oxidation enzyme deficiency +MONDO:0019234 peroxisome biogenesis disorder NANDO:1200759 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peroxisome biogenesis disorders +MONDO:0019234 peroxisome biogenesis disorder NANDO:2200575 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peroxisome biogenesis disorders +MONDO:0019260 adult neuronal ceroid lipofuscinosis NANDO:1200155 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult neuronal ceroid lipofuscinosis +MONDO:0019260 adult neuronal ceroid lipofuscinosis NANDO:2201244 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult neuronal ceroid lipofuscinosis +MONDO:0019261 infantile neuronal ceroid lipofuscinosis NANDO:1200152 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile neuronal ceroid lipofuscinosis +MONDO:0019261 infantile neuronal ceroid lipofuscinosis NANDO:2201241 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile neuronal ceroid lipofuscinosis +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis NANDO:1200154 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile neuronal ceroid lipofuscinosis +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis NANDO:2201243 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile neuronal ceroid lipofuscinosis +MONDO:0019263 autosomal erythropoietic protoporphyria NANDO:1200815 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Erythropoietic protoporphyria +MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 NANDO:1200137 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schindler disease type 3 +MONDO:0019269 ichthyosis NANDO:1200618 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ichthyosis syndrome +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma NANDO:1200616 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital ichthyosiform erythroderma +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma NANDO:1200617 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lamellar ichthyosis +MONDO:0019312 Hermansky-Pudlak syndrome NANDO:1200638 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hermansky-Pudlak syndrome +MONDO:0019322 pemphigus vegetans NANDO:1200232 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pemphigus vegetans +MONDO:0019323 pemphigus erythematosus NANDO:1200233 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pemphigus erythematosus +MONDO:0019324 pemphigus foliaceus NANDO:1200230 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pemphigus foliaceus +MONDO:0019328 macrocystic lymphatic malformation NANDO:1200881 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Giant lymphatic malformation (cervicofacial lesion) +MONDO:0019338 sarcoidosis NANDO:1200415 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sarcoidosis +MONDO:0019341 obsolete tuberous sclerosis complex NANDO:1200607 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tuberous sclerosis complex +MONDO:0019341 obsolete tuberous sclerosis complex NANDO:2200826 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tuberous sclerosis complex +MONDO:0019346 sialidosis type 1 NANDO:1200117 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sialidosis type 1 +MONDO:0019346 sialidosis type 1 NANDO:2201191 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sialidosis type 1 +MONDO:0019349 Sotos syndrome NANDO:1200679 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sotos syndrome +MONDO:0019349 Sotos syndrome NANDO:2200953 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sotos syndrome +MONDO:0019350 hereditary spherocytosis NANDO:2200622 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary spherocytosis +MONDO:0019353 Stargardt disease NANDO:1200933 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Stargardt disease +MONDO:0019355 adult-onset Still disease NANDO:1200282 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult Still's disease +MONDO:0019366 free sialic acid storage disease NANDO:1200146 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Free sialic acid storage disease +MONDO:0019366 free sialic acid storage disease NANDO:2200572 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Free Sialic Acid Storage Disease +MONDO:0019373 desmoplastic small round cell tumor NANDO:2200059 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Desmoplastic small round cell tumors +MONDO:0019391 Fanconi anemia NANDO:1200303 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fanconi anemia +MONDO:0019391 Fanconi anemia NANDO:1200891 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fanconi anemia +MONDO:0019391 Fanconi anemia NANDO:2200652 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fanconi anemia +MONDO:0019399 Isaac syndrome NANDO:1200510 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Isaacs syndrome +MONDO:0019402 beta thalassemia NANDO:2201274 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO β-thalassemia +MONDO:0019403 congenital dyserythropoietic anemia NANDO:1200885 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital dyserythropoietic anemia +MONDO:0019403 congenital dyserythropoietic anemia NANDO:2100178 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital dyserythropoietic anemia +MONDO:0019403 congenital dyserythropoietic anemia NANDO:2200615 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital dyserythropoietic anemia +MONDO:0019408 Astley-Kendall dysplasia NANDO:2201362 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Astley-Kendall dysplasia +MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia NANDO:2200647 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neonatal alloimmune thrombocytopenia +MONDO:0019433 oligoarticular juvenile idiopathic arthritis NANDO:1200471 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Articular-type juvenile idiopathic arthritis +MONDO:0019433 oligoarticular juvenile idiopathic arthritis NANDO:2201056 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oligoarticular juvenile idiopathic arthritis +MONDO:0019434 systemic-onset juvenile idiopathic arthritis NANDO:1200470 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic juvenile idiopathic arthritis +MONDO:0019434 systemic-onset juvenile idiopathic arthritis NANDO:2201055 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic juvenile idiopathic arthritis +MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis NANDO:2201058 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rheumatoid factor-positive juvenile idiopathic arthritis +MONDO:0019437 enthesitis-related juvenile idiopathic arthritis NANDO:2201060 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Enthesitis-related juvenile idiopathic arthritis +MONDO:0019438 AL amyloidosis NANDO:1200211 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Amyloid light-chain amyloidosis +MONDO:0019443 dextro-looped transposition of the great arteries NANDO:1200698 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Corrected transposition of great arteries +MONDO:0019448 benign adult familial myoclonic epilepsy NANDO:1200956 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Benign adult familial myoclonus epilepsy +MONDO:0019460 acute leukemia of ambiguous lineage NANDO:2200017 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute undifferentiated leukemia +MONDO:0019460 acute leukemia of ambiguous lineage NANDO:2200018 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mixed phenotype acute leukemia +MONDO:0019470 aggressive NK-cell leukemia NANDO:2200012 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO NK cell leukemia +MONDO:0019472 extranodal nasal NK/T cell lymphoma NANDO:2200027 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Extranodal NK/T-cell lymphoma, nasal type +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma NANDO:2200030 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sucutaneous panniculitis-like T-cell lymphoma +MONDO:0019480 Langerhans cell sarcoma NANDO:2200036 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Langerhans cell sarcoma +MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome NANDO:1200596 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hemiconvulsion-hemiplegia-epilepsy syndrome +MONDO:0019487 epilepsy with myoclonic absences NANDO:1200589 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myoclonic absence epilepsy +MONDO:0019499 Turner syndrome NANDO:2200410 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Turner syndrome +MONDO:0019501 Usher syndrome NANDO:1200941 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Usher syndrome +MONDO:0019503 anterior segment dysgenesis NANDO:1201000 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anterior segment dysgenesis +MONDO:0019532 autoimmune hemolytic anemia, warm type NANDO:1200306 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Warm antibody hemolytic anemia +MONDO:0019533 paroxysmal cold hemoglobinuria NANDO:1200308 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Paroxysmal cold hemoglobinuria +MONDO:0019533 paroxysmal cold hemoglobinuria NANDO:2200619 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Paroxysmal cold hemoglobinuria +MONDO:0019534 mixed-type autoimmune hemolytic anemia NANDO:1200309 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mixed-type autoimmune hemolytic anemia +MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome NANDO:2200640 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Shiga toxin-producing escherichia coli hemolytic uremic syndrome +MONDO:0019563 CREST syndrome NANDO:1201011 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Limited cutaneous systemic sclerosis +MONDO:0019600 xeroderma pigmentosum NANDO:1200608 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Xeroderma pigmentosum +MONDO:0019600 xeroderma pigmentosum NANDO:2100286 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Xeroderma pigmentosum +MONDO:0019600 xeroderma pigmentosum NANDO:2201002 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Xeroderma pigmentosum +MONDO:0019607 unspecified juvenile idiopathic arthritis NANDO:2201061 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Unclassifiable Juvenile idiopathic arthritis +MONDO:0019609 Zellweger spectrum disorders NANDO:1200760 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Zellweger syndrome +MONDO:0019611 TSH-secreting pituitary adenoma NANDO:1200377 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome +MONDO:0019622 non-specific interstitial pneumonia NANDO:1200419 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-specific interstitial pneumonia +MONDO:0019623 hereditary angioedema NANDO:1200365 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary angioedema +MONDO:0019623 hereditary angioedema NANDO:2200795 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary angioedema +MONDO:0019637 renal hypoplasia NANDO:2200155 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoplastic kidney +MONDO:0019638 renal dysplasia NANDO:2200161 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renal dysplasia +MONDO:0019639 congenital megacalycosis NANDO:2200177 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megacalycosis +MONDO:0019642 vitamin D-dependent rickets, type 2 NANDO:1200783 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-dependent rickets, type 2 +MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis NANDO:2200111 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diffuse mesangial sclerosis +MONDO:0019669 hypochondrogenesis NANDO:2201346 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypochondrogenesis +MONDO:0019701 chondrodysplasia punctata NANDO:2201017 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chondrodysplasia punctata +MONDO:0019731 AApoAI amyloidosis NANDO:1201062 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial amyloid polyneuropathy type 3 +MONDO:0019734 juvenile polymyositis NANDO:2200419 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile polymyositis +MONDO:0019736 dense deposit disease NANDO:1200739 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary membranoproliferative glomerulonephritis type II +MONDO:0019740 acquired thrombotic thrombocytopenic purpura NANDO:1200318 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired idiopathic thrombotic thrombocytopenic purpura +MONDO:0019740 acquired thrombotic thrombocytopenic purpura NANDO:1200319 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Secondary thrombotic thrombocytopenic purpura +MONDO:0019751 autoinflammatory syndrome NANDO:2100156 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoinflammatory disease +MONDO:0019773 myelomeningocele NANDO:1200509 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelomeningocele +MONDO:0019773 myelomeningocele NANDO:2100215 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelomeningocele +MONDO:0019773 myelomeningocele NANDO:2200814 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelomeningocele +MONDO:0019787 autoimmune enteropathy NANDO:2200923 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune enteropathy +MONDO:0019799 hepatoerythropoietic porphyria NANDO:1200819 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatoerythropoietic porphyria +MONDO:0019799 hepatoerythropoietic porphyria NANDO:2201270 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatoerythropoietic porphyria +MONDO:0019804 tracheomalacia NANDO:2200195 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tracheomalacia +MONDO:0019810 toxic epidermal necrolysis NANDO:1200246 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Toxic epidermal necrolysis +MONDO:0019810 toxic epidermal necrolysis NANDO:2201007 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Toxic epidermal necrolysis +MONDO:0019813 congenital tricuspid stenosis NANDO:1200962 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital tricuspid stenosis +MONDO:0019832 acquired pituitary hormone deficiency NANDO:2200313 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired hypopituitarism +MONDO:0019854 thyroid ectopia NANDO:2200330 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ectoic thyroid +MONDO:0019855 athyreosis NANDO:2200331 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thyroid agenesis +MONDO:0019933 acromegaly NANDO:2100112 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acromegaly +MONDO:0019933 acromegaly NANDO:2200315 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acromegaly +MONDO:0019948 reducing body myopathy NANDO:2200875 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Reducing body myopathy +MONDO:0019952 congenital myopathy NANDO:1200477 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital myopathy +MONDO:0019952 congenital myopathy NANDO:2100234 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital myopathy +MONDO:0019959 glucagonoma NANDO:2100142 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glucagonoma +MONDO:0019959 glucagonoma NANDO:2200397 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glucagonoma +MONDO:0019960 VIPoma NANDO:2200394 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vipoma +MONDO:0019983 multiloculated renal cyst NANDO:2200171 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multilocular cysts of the kidney +MONDO:0019992 pseudohypoparathyroidism NANDO:1200776 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoparathyroidism +MONDO:0019992 pseudohypoparathyroidism NANDO:2100126 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoparathyroidism +MONDO:0019992 pseudohypoparathyroidism NANDO:2200349 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoparathyroidism +MONDO:0020007 absence of the pulmonary artery NANDO:2200282 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Unilateral absence of a pulmonary artery +MONDO:0020022 central nervous system malformation NANDO:2200118 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central nervous system malformation syndrome +MONDO:0020040 46,XY disorder of sex development NANDO:2200393 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disorders of sex development of 46,XX +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development NANDO:2200393 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disorders of sex development of 46,XX +MONDO:0020064 pulmonary valve agenesis NANDO:2100095 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Absent pulmonary valve +MONDO:0020064 pulmonary valve agenesis NANDO:2200280 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Absent pulmonary valve +MONDO:0020066 Ehlers-Danlos syndrome NANDO:1200645 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos Syndrome +MONDO:0020066 Ehlers-Danlos syndrome NANDO:2200607 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome +MONDO:0020074 progressive myoclonus epilepsy NANDO:1200953 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive myoclonus epilepsy +MONDO:0020074 progressive myoclonus epilepsy NANDO:2100237 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive myoclonus epilepsy +MONDO:0020088 familial partial lipodystrophy NANDO:1200861 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial partial lipodystrophy +MONDO:0020099 inherited sideroblastic anemia NANDO:1200892 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary sideroblastic anemia +MONDO:0020102 hereditary stomatocytosis NANDO:2200623 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary stomatocytosis +MONDO:0020108 autoimmune hemolytic anemia NANDO:1200305 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune hemolytic anemia +MONDO:0020108 autoimmune hemolytic anemia NANDO:2100181 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune hemolytic anemia +MONDO:0020121 muscular dystrophy NANDO:1200486 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Muscular dystrophy +MONDO:0020121 muscular dystrophy NANDO:2100233 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Muscular dystrophy +MONDO:0020242 hereditary macular dystrophy NANDO:1200931 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Macular dystrophy +MONDO:0020311 chronic myelomonocytic leukemia NANDO:2200014 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic myelomonocytic leukemia +MONDO:0020320 acute myeloblastic leukemia with maturation NANDO:2200006 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute myeloid leukemia with maturation +MONDO:0020321 acute undifferentiated leukemia NANDO:2200017 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute undifferentiated leukemia +MONDO:0020325 anaplastic large cell lymphoma NANDO:2200021 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anaplastic large cell lymphoma +MONDO:0020337 congenital dyserythropoietic anemia type 1 NANDO:1200886 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital dyserythropoietic anemia type I +MONDO:0020338 adult pure red cell aplasia NANDO:1200889 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired pure red cell aplasia +MONDO:0020338 adult pure red cell aplasia NANDO:2200613 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired pure red cell aplasia +MONDO:0020341 periventricular nodular heterotopia NANDO:1201079 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Periventricular nodular heterotopia +MONDO:0020352 multiple system atrophy, parkinsonian type NANDO:1200036 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple system atrophy, Parkinsonian type +MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation NANDO:1200703 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete transposition of the great arteries (Group4) +MONDO:0020391 pulmonary artery coming from the aorta NANDO:2200281 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Origin of pulmonary artery from ascending aorta +MONDO:0020398 congenital mitral stenosis NANDO:1200963 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital mitral stenosis +MONDO:0020400 congenital supravalvular mitral ring NANDO:2200308 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Supramitral ring +MONDO:0020413 encircling double aortic arch NANDO:2200290 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Double aortic arch disease +MONDO:0020428 congenital Gerbode defect NANDO:2100090 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Left ventricular-right atrial communication +MONDO:0020428 congenital Gerbode defect NANDO:2200274 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Left ventricular-right atrial communication +MONDO:0020434 atrial septal defect, ostium secundum type NANDO:2200266 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrial septal defect, ostium secundum type +MONDO:0020436 atrial septal defect, sinus venosus type NANDO:2200267 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrial septal defect, sinus venosus type +MONDO:0020439 patent foramen ovale NANDO:2200266 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrial septal defect, ostium secundum type +MONDO:0020453 congenital partial pulmonary venous return anomaly NANDO:2200272 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Partial anomalous pulmonary venous connection +MONDO:0020459 unstable hemoglobin disease NANDO:2200625 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Unstable hemoglobin disease +MONDO:0020460 acquired von willebrand syndrome NANDO:1200899 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired von Willebrand disease +MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis NANDO:1200588 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis +MONDO:0020479 pituitary gigantism NANDO:2100111 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pituitary gigantism +MONDO:0020479 pituitary gigantism NANDO:2200314 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pituitary gigantism +MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 NANDO:2200365 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aldosterone synthase deficiency +MONDO:0020491 subcortical band heterotopia NANDO:1201070 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subcortical band heterotopia +MONDO:0020492 hemimegalencephaly NANDO:1200563 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hemimegalencephaly +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia NANDO:2200001 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO B-cell precursor lymphoblastic leukemia +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia NANDO:2200022 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Precursor B lymphoblastic lymphoma +MONDO:0020547 chronic graft versus host disease NANDO:2100213 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic graft-versus-host disease +MONDO:0020547 chronic graft versus host disease NANDO:2200812 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic graft-versus-host disease +MONDO:0020560 atypical teratoid rhabdoid tumor NANDO:2200101 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atypical teratoid, rhabdoid tumour +MONDO:0020586 factor V deficiency NANDO:2200674 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor V deficiency +MONDO:0020587 factor XI deficiency NANDO:2200679 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor XI deficiency +MONDO:0020599 acquired coagulation factor deficiency NANDO:1200896 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune acquired coagulation factor deficiency +MONDO:0020603 X-linked chondrodysplasia punctata 2 NANDO:1200630 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Conradi Hünermann Happle syndrome +MONDO:0020603 X-linked chondrodysplasia punctata 2 NANDO:2201357 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type +MONDO:0020640 autoimmune encephalitis NANDO:2100248 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune encephalitis +MONDO:0020640 autoimmune encephalitis NANDO:2200902 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune encephalitis +MONDO:0020642 polycystic kidney disease NANDO:1200367 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polycystic kidney disease +MONDO:0020642 polycystic kidney disease NANDO:2200152 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polycystic kidney disease +MONDO:0020690 adult glioblastoma NANDO:2200087 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glioblastoma +MONDO:0020702 autosomal dominant epidermolytic ichthyosis NANDO:1200611 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal dominant epidermolytic ichthyosis +MONDO:0020702 autosomal dominant epidermolytic ichthyosis NANDO:2200988 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal dominant epidermolytic ichthyosis +MONDO:0020743 mixed phenotype acute leukemia NANDO:2200018 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mixed phenotype acute leukemia +MONDO:0020793 oculopharyngodistal myopathy 1 NANDO:1200219 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oculopharyngodistal myopathy +MONDO:0020803 obsolete bundle branch block NANDO:2100046 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bundle branch block +MONDO:0020803 obsolete bundle branch block NANDO:2200215 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bundle branch block +MONDO:0021055 classic familial adenomatous polyposis NANDO:2200915 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial adenomatous polyposis +MONDO:0021061 neurofibromatosis NANDO:1200225 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurofibromatosis +MONDO:0021061 neurofibromatosis NANDO:1200226 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurofibromatosis type 1 +MONDO:0021061 neurofibromatosis NANDO:1200227 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurofibromatosis type 2 +MONDO:0021061 neurofibromatosis NANDO:2201003 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO von Recklinghausen's disease +MONDO:0021081 anti-NMDA receptor encephalitis NANDO:2201317 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anti-NMDA receptor encephalitis +MONDO:0021094 immunodeficiency disease NANDO:2100204 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Immunodeficiency +MONDO:0021133 acquired factor XIII deficiency NANDO:1200897 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune hemorrhaphilia XIII/13 +MONDO:0021134 acquired factor X deficiency NANDO:1201048 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired factor X inhibitor +MONDO:0021209 heart neoplasm NANDO:2100061 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cardiac tumor +MONDO:0021209 heart neoplasm NANDO:2200236 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cardiac tumor +MONDO:0021902 aortopulmonary window NANDO:2100082 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aorto-pulmonary window +MONDO:0021902 aortopulmonary window NANDO:2200262 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aorto-pulmonary window +MONDO:0021915 arakawa syndrome 2 NANDO:2201111 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylcobalamin deficiency cblG type +MONDO:0021969 Banti syndrome NANDO:1200438 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic portal hypertension +MONDO:0022205 pustular psoriasis NANDO:1200240 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pustular psoriasis +MONDO:0022205 pustular psoriasis NANDO:2100285 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pustular psoriasis +MONDO:0022205 pustular psoriasis NANDO:2201001 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pustular psoriasis +MONDO:0022308 corticobasal degeneration disorder NANDO:1200011 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Corticobasal degeneration +MONDO:0022402 agyria-pachygyria type 1 NANDO:1201068 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Agyria +MONDO:0022402 agyria-pachygyria type 1 NANDO:1201069 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pachygyria +MONDO:0022424 alpha-mannosidosis type 1 NANDO:1200127 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-mannosidosis, infantile form +MONDO:0022424 alpha-mannosidosis type 1 NANDO:2201188 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-mannosidosis, infantile form +MONDO:0022800 type 2 collagenopathy NANDO:2201016 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Type II collagenopathy +MONDO:0022858 continuous spike-wave during slow sleep syndrome NANDO:1200601 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epileptic encephalopathy with continuous spike-and-wave during sleep +MONDO:0022880 obsolete corticobasal degeneration NANDO:1200011 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Corticobasal degeneration +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation NANDO:1200841 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type Ib +MONDO:0023419 hyperprolinemia NANDO:2200471 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperprolinemia +MONDO:0024291 vascular malformation NANDO:2100295 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vascular malformation +MONDO:0024299 vitamin D-dependent rickets NANDO:1200781 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-dependent rickets / Osteomalacia +MONDO:0024299 vitamin D-dependent rickets NANDO:2100144 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-dependent rickets +MONDO:0024299 vitamin D-dependent rickets NANDO:2200401 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-dependent rickets +MONDO:0024300 hypophosphatemic rickets NANDO:1200778 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia +MONDO:0024300 hypophosphatemic rickets NANDO:1200780 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-resistant osteomalacia +MONDO:0024300 hypophosphatemic rickets NANDO:2200402 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-resistant osteomalacia +MONDO:0024300 hypophosphatemic rickets NANDO:2200403 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary hypophosphatemic rickets +MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) NANDO:1200643 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudoxanthoma elasticum +MONDO:0024327 chronic renal failure syndrome NANDO:2100023 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic renal failure +MONDO:0024457 neurodegeneration with brain iron accumulation 2A NANDO:1200537 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurodegeneration with brain iron accumulation type 2A +MONDO:0024536 glucocorticoid deficiency 1 NANDO:1200408 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MC2R deficiency +MONDO:0024538 basal ganglia calcification, idiopathic, 1 NANDO:1200208 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial idiopathic basal ganglia calcification +MONDO:0024574 von Willebrand disease (hereditary or acquired) NANDO:2200682 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Von Willebrand disease +MONDO:0024623 otorhinolaryngologic disease NANDO:1100015 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Otorhinolaryngological disease +MONDO:0024644 myocardial ischemia NANDO:2100070 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ischemic heart disease +MONDO:0024677 pancreatic insulinoma NANDO:2200398 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Insulinoma +MONDO:0024746 immature teratoma NANDO:2200106 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Immature teratoma +MONDO:0025193 oculopharyngodistal myopathy NANDO:1200219 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oculopharyngodistal myopathy +MONDO:0028737 obsolete biliary atresia disorder NANDO:1200913 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Biliary atresia +MONDO:0028737 obsolete biliary atresia disorder NANDO:2200930 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO biliary atresia +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome NANDO:1200649 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, kyphoscoliotic type +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome NANDO:2201259 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, kyphoscoliotic type +MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease NANDO:1200193 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Iatrogenic Creutzfeldt-Jakob disease +MONDO:0037792 carbohydrate metabolism disease NANDO:2100164 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disorder of carbohydrate metabolism +MONDO:0037858 inherited fatty acid metabolism disorder NANDO:2100162 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disorder of fatty-acid metabolism +MONDO:0037871 amino acid metabolism disease NANDO:2100160 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disorder of amino acid metabolism +MONDO:0037939 porphyria NANDO:1200811 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Porphyria +MONDO:0042727 sacrococcygeal teratoma NANDO:2100216 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sacrococcygeal teratoma +MONDO:0042727 sacrococcygeal teratoma NANDO:2200816 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sacrococcygeal teratoma +MONDO:0042727 sacrococcygeal teratoma NANDO:2201287 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Altman type IV sacrococcygeal teratoma +MONDO:0042981 aortic valve stenosis NANDO:2200306 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aortic valve stenosis +MONDO:0042983 neurocutaneous syndrome NANDO:2100220 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurocutaneous syndrome +MONDO:0043094 ichthyosis, follicular NANDO:1200628 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ichthyosis follicularis +MONDO:0043152 negative rheumatoid factor polyarthritis NANDO:2201057 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rheumatoid factor-negative juvenile idiopathic arthritis +MONDO:0043267 rheumatoid vasculitis NANDO:1200265 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rheumatoid vasculitis +MONDO:0043317 amyopathic dermatomyositis NANDO:1200275 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Amyopathic dermatomyositis +MONDO:0043472 ectopic ACTH secretion syndrome NANDO:2200351 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ectopic ACTH syndrome +MONDO:0043768 thrombocytopenic purpura NANDO:2100188 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thrombocytopenic purpura +MONDO:0044354 obsolete Rosai-Dorfman disease NANDO:2200039 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rosai-Dorfman disease +MONDO:0044742 autosomal recessive epidermolytic ichthyosis NANDO:1200612 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal recessive epidermolytic ichthyosis +MONDO:0044742 autosomal recessive epidermolytic ichthyosis NANDO:2200989 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal recessive epidermolytic ichthyosis +MONDO:0044744 prekallikrein deficiency NANDO:2200684 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital prekallikrein deficiency +MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma NANDO:1201067 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nodular lymphocyte predominance Hodgkin lymphoma +MONDO:0044807 inherited dystonia NANDO:1200511 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary dystonia +MONDO:0044808 obsolete early onset primary dystonia NANDO:1200512 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 1 +MONDO:0044873 childhood myelodysplastic syndrome NANDO:2100003 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelodysplastic syndrome +MONDO:0044873 childhood myelodysplastic syndrome NANDO:2200019 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelodysplastic syndrome +MONDO:0044903 myelofibrosis NANDO:2100200 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelofibrosis +MONDO:0044903 myelofibrosis NANDO:2200692 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelofibrosis +MONDO:0044917 T-lymphoblastic lymphoma NANDO:2200023 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Precursor T lymphoblastic lymphoma +MONDO:0044970 mitochondrial disease NANDO:1200173 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial diseases +MONDO:0044970 mitochondrial disease NANDO:2100163 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial diseases +MONDO:0045022 disorder of organic acid metabolism NANDO:2100161 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disorder of organic acid metabolism +MONDO:0045045 selective IgG immunodeficiency NANDO:1200346 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IgG subclass deficiency +MONDO:0100025 epilepsy of infancy with migrating focal seizures NANDO:1200595 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epilepsy of infancy with migrating focal seizures +MONDO:0100062 developmental and epileptic encephalopathy NANDO:1200593 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ohtahara syndrome +MONDO:0100064 tyrosine hydroxylase deficiency NANDO:2200595 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tyrosine hydroxylase deficiency +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 NANDO:2200662 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial platelet disorder with propensity to myeloid. +MONDO:0100133 mitochondrial complex I deficiency NANDO:1200180 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial complex I deficiency +MONDO:0100135 Dravet syndrome NANDO:1200587 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dravet syndrome +MONDO:0100135 Dravet syndrome NANDO:2200877 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Severe myoclonic epilepsy in infancy +MONDO:0100151 nephropathic cystinosis NANDO:1200162 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephropathic cystinosis +MONDO:0100151 nephropathic cystinosis NANDO:2201234 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephropathic cystinosis +MONDO:0100189 apolipoprotein A-I deficiency NANDO:2200605 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO HDL deficiency +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive NANDO:2200737 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO STAT5b deficiency +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome NANDO:2200999 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ichthyosis-follicularis-atrichia-photophobia syndrome +MONDO:0100222 A20 haploinsufficiency NANDO:1200997 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO A20 haploinsufficiency +MONDO:0100222 A20 haploinsufficiency NANDO:2200458 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO A20 haploinsufficiency +MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 NANDO:1200180 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial complex I deficiency diff --git a/src/ontology/mondo-ingest.Makefile b/src/ontology/mondo-ingest.Makefile index 4331bd58..34e8c267 100644 --- a/src/ontology/mondo-ingest.Makefile +++ b/src/ontology/mondo-ingest.Makefile @@ -183,8 +183,9 @@ $(TMPDIR)/component-%.json: $(COMPONENTSDIR)/%.owl $(ROBOT) convert -i $< -f json -o $@ .PRECIOUS: $(TMPDIR)/component-%.json -$(MAPPINGSDIR)/%.sssom.tsv: $(TMPDIR)/component-%.json metadata/mondo.sssom.config.yml - sssom parse $< -I obographs-json --prefix-map-mode merged -m metadata/mondo.sssom.config.yml -o $@ +$(MAPPINGSDIR)/%.sssom.tsv: + $(MAKE) $(TMPDIR)/component-$*.json metadata/mondo.sssom.config.yml + sssom parse $(TMPDIR)/component-$*.json -I obographs-json --prefix-map-mode merged -m metadata/mondo.sssom.config.yml -o $@ sssom sort $@ -o $@ $(MAPPINGSDIR)/ordo.sssom.tsv: $(TMPDIR)/component-ordo.json @@ -199,6 +200,9 @@ $(MAPPINGSDIR)/omim.sssom.tsv: $(TMPDIR)/component-omim.json sssom parse $< -I obographs-json --prefix-map-mode merged -m metadata/omim.metadata.sssom.yml -o $@ sssom sort $@ -o $@ +$(MAPPINGSDIR)/nando-mondo.sssom.tsv: + @echo "$@ is manually curated" + mappings: $(ALL_MAPPINGS) #################################### @@ -556,7 +560,9 @@ $(TMPDIR)/nord.tsv: wget "https://rdbdev.wpengine.com/wp-content/uploads/mondo-export/rare_export.tsv" -O $@ $(EXTERNAL_CONTENT_DIR)/%.robot.owl: $(EXTERNAL_CONTENT_DIR)/%.robot.tsv - $(ROBOT) template --template $< \ + $(ROBOT) template \ + --template $< \ + --prefix "orcid: https://orcid.org/" \ annotate \ --ontology-iri $(URIBASE)/mondo/external/nord.robot.owl \ --version-iri $(URIBASE)/mondo/external/$(TODAY)/nord.robot.owl \ @@ -586,7 +592,20 @@ $(EXTERNAL_CONTENT_DIR)/ordo-subsets.robot.tsv: tmp/ordo-subsets.tsv tmp/mondo.s .PHONY: external-content-ordo external-content-ordo: $(EXTERNAL_CONTENT_DIR)/ordo-subsets.robot.owl $(EXTERNAL_CONTENT_DIR)/ordo-subsets.robot.tsv -update-externally-managed-content: external-content-nord external-content-ordo +$(MAPPINGSDIR)/mondo-nando.sssom.tsv: $(MAPPINGSDIR)/nando-mondo.sssom.tsv + sssom invert $(MAPPINGSDIR)/nando-mondo.sssom.tsv --no-merge-inverted -o $@ + sssom annotate $@ --mapping_provider "MONDO:NANDO" -o $@ + +$(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.tsv: $(MAPPINGSDIR)/mondo-nando.sssom.tsv + mkdir -p $(EXTERNAL_CONTENT_DIR) + python ../scripts/sssom_to_robot_template.py --inpath $< --outpath $@ +.PRECIOUS: $(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.tsv + +.PHONY: external-content-nord external-content-nando +external-content-nord: $(EXTERNAL_CONTENT_DIR)/nord.robot.owl +external-content-nando: $(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.owl + +update-externally-managed-content: external-content-nord external-content-nando external-content-ordo ############################# ######### Analysis ########## diff --git a/src/scripts/sssom_to_robot_template.py b/src/scripts/sssom_to_robot_template.py new file mode 100644 index 00000000..8a0fd622 --- /dev/null +++ b/src/scripts/sssom_to_robot_template.py @@ -0,0 +1,57 @@ +"""Convert SSSOM to ROBOT template.""" +from argparse import ArgumentParser +from pathlib import Path +from typing import Dict, Union + +import pandas as pd +from sssom import MappingSetDataFrame +from sssom.parsers import parse_sssom_table + +ROBOT_ROW = { + 'subject_id': 'ID', + 'subject_label': '', + 'object_id': 'A oboInOwl:hasDbXref', + 'equivalence': '>A oboInOwl:source', + 'author_id': '>AI oboInOwl:source SPLIT=|', + 'mapping_provider': '>A oboInOwl:source', + 'object_label': '', +} +PRED_MAP = { + 'skos:relatedMatch': 'MONDO:relatedTo', + 'skos:exactMatch': 'MONDO:equivalentTo', + 'skos:broadMatch': 'MONDO:mondoIsNarrowerThanSource', +} + + +def sssom_to_robot_template(inpath: Union[str, Path], outpath: Union[str, Path]): + """Convert SSSOM to ROBOT template.""" + msdf: MappingSetDataFrame = parse_sssom_table(inpath) + df: pd.DataFrame = msdf.df + + # Conversion + df['equivalence'] = df['predicate_id'].map(lambda pred: PRED_MAP.get(pred, '')) + df = df[['subject_id', 'subject_label', 'object_id', 'equivalence', 'object_label']]\ + .sort_values(['subject_id', 'object_id']) + df['author_id'] = '|'.join(msdf.metadata['creator_id']) + df['mapping_provider'] = msdf.metadata['mapping_provider'] + df = pd.concat([pd.DataFrame([ROBOT_ROW]), df]) + + # Write + df.to_csv(outpath, sep='\t', index=False) + + +def cli(): + """Command line interface""" + parser = ArgumentParser( + prog='sssom-to-robot-template', + description='Convert SSSOM to ROBOT template.') + parser.add_argument( + '-i', '--inpath', required=True, help='Path to input SSSOM TSV.') + parser.add_argument( + '-o', '--outpath', required=True, help='Path to output ROBOT template TSV.') + d: Dict = vars(parser.parse_args()) + sssom_to_robot_template(**d) + + +if __name__ == '__main__': + cli() \ No newline at end of file