Diseases

Name Orphanumber Description XREF(s)
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 99646 Metaphyseal chondromatosis with D-2-… Orphanet, ICD-10, OMIM
Complete androgen insensitivity syndrome 99429 Complete androgen insensitivity… Orphanet, OMIM, ICD-10
Fetal akinesia deformation sequence 994 The fetal akinesia/hypokinesia sequence… Orphanet, OMIM, OMIM, OMIM, ICD-10, OMIM, OMIM, OMIM
Familial medullary thyroid carcinoma 99361 A rare thyroid tumor characterized by a… Orphanet, MeSH, ICD-10, OMIM
Lymphedema-posterior choanal atresia syndrome 99141 A rare genetic disease characterized by… Orphanet, OMIM, ICD-10
Atrial septal defect, ostium primum type 99106 Orphanet, MeSH, ICD-10
Atrial septal defect, sinus venosus type 99105 Orphanet, MeSH, ICD-10
Atrial septal defect, ostium secundum type 99103 Orphanet, OMIM, OMIM, MedDRA, MedDRA, ICD-10, OMIM
Complete atrioventricular septal defect-tetralogy of Fallot 99068 Orphanet, ICD-10, OMIM
Complete atrioventricular septal defect with ventricular hypoplasia 99067 Orphanet, ICD-10, OMIM
Complete atrioventricular canal-left heart obstruction syndrome 99066 Orphanet
Congenitally uncorrected transposition of the great arteries with coarctation 99042 Orphanet
Adult-onset autosomal dominant leukodystrophy 99027 A rare, slowly progressive neurological… Orphanet, ICD-10, OMIM
Spastic paraplegia type 2 99015 A rare, X-linked leukodystrophy… Orphanet, ICD-10, MeSH, OMIM
X-linked Charcot-Marie-Tooth disease type 5 99014 A rare form of X-linked Charcot-Marie-… Orphanet, ICD-10, OMIM
Spastic paraplegia type 7 99013 A form of hereditary spastic ataxia… Orphanet, ICD-10, OMIM
Multifocal pattern dystrophy simulating fundus flavimaculatus 99003 A rare, patterned dystrophy of the… Orphanet, ICD-10
Reticular dystrophy of the retinal pigment epithelium 99002 A rare, patterned dystrophy of the… Orphanet, ICD-10, OMIM, OMIM, OMIM
Butterfly-shaped pigment dystrophy 99001 A rare patterned dystrophy of the… Orphanet, ICD-10, OMIM, OMIM, OMIM
Adult-onset foveomacular vitelliform dystrophy 99000 A rare, genetic, macular dystrophy… Orphanet, ICD-10, OMIM, OMIM, OMIM, OMIM
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