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"

4 matching diseasesClear search ×

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome

ORPHA:401777

3-methylglutaconic aciduria type 3

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

ORPHA:67047

Auditory neuropathy-optic atrophy syndrome

ORPHA:542585

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

ORPHA:1215