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 ×

Posterior column ataxia-retinitis pigmentosa syndrome

Autosomal recessive posterior column ataxia and retinitis pigmentosa · PCARP

ORPHA:88628

Autosomal recessive anterior segment dysgenesis

ORPHA:519388

Autosomal recessive cerebellar ataxia

ARCA

ORPHA:1172

Autosomal recessive congenital cerebellar ataxia

ORPHA:98095

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

ORPHA:314572

Autosomal recessive spastic ataxia

AR-SPAX

ORPHA:316240