Rare Disease Library

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Adult-onset autosomal dominant leukodystrophy

ADLD · Adult-onset autosomal dominant demyelinating leukodystrophy

Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant benign distal spinal muscular atrophy · Congenital benign spinal muscular atrophy with contractures

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

Autosomal dominant Emery-Dreifuss muscular dystrophy

EDMD2

Autosomal dominant hereditary axonal motor and sensory neuropathy

Autosomal dominant hereditary chronic pancreatitis

Autosomal dominant hereditary sensory and autonomic neuropathy

Autosomal dominant limb-girdle muscular dystrophy

Autosomal dominant optic atrophy

DOA · ADOA

Autosomal dominant optic atrophy and congenital deafness

Konigsmark-Knox-Hussels syndrome · Autosomal dominant optic atrophy and congenital hearing loss

Autosomal dominant severe congenital neutropenia

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

Congenital stromal corneal dystrophy

CSCD · Congenital hereditary stromal dystrophy

EDICT syndrome

Autosomal dominant keratoconus with early-onset anterior polar cataracts · Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome

Fuchs endothelial corneal dystrophy

Endoepithelial corneal dystrophy · FECD

OBSOLETE: Hemochromatosis type 4

OBSOLETE: Ferroportin disease · OBSOLETE: Hemochromatosis due to defect in ferroportin