Diseases

Name Orphanumber Description XREF(s)
Agnathia-holoprosencephaly-situs inversus syndrome 990 An extremely rare and fatal association… Orphanet, ICD-10, OMIM
Total early-onset cataract 98994 Orphanet, OMIM, ICD-10, MeSH, OMIM, OMIM
Early-onset posterior polar cataract 98993 Orphanet, OMIM, OMIM, ICD-10, OMIM
Early-onset nuclear cataract 98991 Orphanet, OMIM, MedDRA, OMIM, OMIM, OMIM, OMIM, ICD-10, MedDRA, OMIM
Coralliform cataract 98990 Orphanet, OMIM, ICD-10
Cerulean cataract 98989 A type of hereditary congenital… Orphanet, OMIM, OMIM, MeSH, ICD-10
Early-onset anterior polar cataract 98988 Orphanet, MeSH, ICD-10, OMIM
Early-onset sutural cataract 98985 Orphanet, OMIM, OMIM, ICD-10, OMIM
Pulverulent cataract 98984 Orphanet, ICD-10, OMIM
Axenfeld anomaly 98978 A rare, congenital, ocular defect… Orphanet, OMIM, OMIM, MedDRA, ICD-10
Juvenile glaucoma 98977 A primary early-onset glaucoma that is… Orphanet, ICD-10, MedDRA, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Congenital glaucoma 98976 A rare ophthalmic disorder… Orphanet, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM
Congenital hereditary endothelial dystrophy type I 98975 A rare subtype of posterior corneal… Orphanet, OMIM, ICD-10
Fuchs endothelial corneal dystrophy 98974 A disorder that is the most frequent… Orphanet, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, ICD-10
Posterior polymorphous corneal dystrophy 98973 A rare mild subtype of posterior… Orphanet, OMIM, OMIM, ICD-10, OMIM
Fleck corneal dystrophy 98970 Fleck corneal dystrophy (FCD) is a rare… Orphanet, OMIM, ICD-10
Macular corneal dystrophy 98969 Macular corneal dystrophy (MCD) is a… Orphanet, OMIM, MedDRA, ICD-10
Schnyder corneal dystrophy 98967 Schnyder corneal dystrophy (SCD) is a… Orphanet, MeSH, ICD-10, OMIM
Lattice corneal dystrophy type I 98964 Type I lattice corneal dystrophy (LCDI… Orphanet, ICD-10, OMIM, OMIM, MeSH
Granular corneal dystrophy type II 98963 Type II granular corneal dystrophy (… Orphanet, MeSH, OMIM, ICD-10
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