Diseases

Name Orphanumber Description XREF(s)
Congenital glaucoma 98976 A rare ophthalmic disorder… Orphanet, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM
Juvenile glaucoma 98977 A primary early-onset glaucoma that is… Orphanet, ICD-10, MedDRA, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Axenfeld anomaly 98978 A rare, congenital, ocular defect… Orphanet, OMIM, OMIM, MedDRA, ICD-10
Pulverulent cataract 98984 Orphanet, ICD-10, OMIM
Early-onset sutural cataract 98985 Orphanet, OMIM, OMIM, ICD-10, OMIM
Early-onset anterior polar cataract 98988 Orphanet, MeSH, ICD-10, OMIM
Cerulean cataract 98989 A type of hereditary congenital… Orphanet, OMIM, OMIM, MeSH, ICD-10
Coralliform cataract 98990 Orphanet, OMIM, ICD-10
Early-onset nuclear cataract 98991 Orphanet, OMIM, MedDRA, OMIM, OMIM, OMIM, OMIM, ICD-10, MedDRA, OMIM
Early-onset posterior polar cataract 98993 Orphanet, OMIM, OMIM, ICD-10, OMIM
Total early-onset cataract 98994 Orphanet, OMIM, ICD-10, MeSH, OMIM, OMIM
Agnathia-holoprosencephaly-situs inversus syndrome 990 An extremely rare and fatal association… Orphanet, ICD-10, OMIM
Adult-onset foveomacular vitelliform dystrophy 99000 A rare, genetic, macular dystrophy… Orphanet, ICD-10, OMIM, OMIM, OMIM, OMIM
Butterfly-shaped pigment dystrophy 99001 A rare patterned dystrophy of the… Orphanet, ICD-10, OMIM, OMIM, OMIM
Reticular dystrophy of the retinal pigment epithelium 99002 A rare, patterned dystrophy of the… Orphanet, ICD-10, OMIM, OMIM, OMIM
Multifocal pattern dystrophy simulating fundus flavimaculatus 99003 A rare, patterned dystrophy of the… Orphanet, ICD-10
Spastic paraplegia type 7 99013 A form of hereditary spastic ataxia… Orphanet, ICD-10, 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 2 99015 A rare, X-linked leukodystrophy… Orphanet, ICD-10, MeSH, OMIM
Adult-onset autosomal dominant leukodystrophy 99027 A rare, slowly progressive neurological… Orphanet, ICD-10, OMIM
Download XLSX
Download PDF