Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

7 matching diseasesClear search ×

OBSOLETE: Autosomal dominant childhood-onset cortical cataract

OBSOLETE: Autosomal dominant childhood-onset progressive cortical cataract

ORPHA:306561

Autosomal dominant childhood-onset proximal spinal muscular atrophy

Kugelberg-Welander disease · Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy

ORPHA:363447

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

ORPHA:67036

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 7 · SCAR7

ORPHA:284324

OBSOLETE: Autosomal dominant coarctation of aorta

ORPHA:1455

OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness

ORPHA:255117

OBSOLETE: Autosomal recessive childhood-onset cortical cataract

ORPHA:217046