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"

6 matching diseasesClear search ×

Autosomal dominant optic atrophy, classic form

Autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy

ORPHA:98673

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

ORPHA:67047

Autosomal dominant optic atrophy

DOA · ADOA

ORPHA:98672

Early-onset X-linked optic atrophy

Non-Leber type optic atrophy with early-onset · OPA2

ORPHA:98890

Leber hereditary optic neuropathy

LHON · Leber optic atrophy

ORPHA:104

OBSOLETE: Genetic optic atrophy

ORPHA:103