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"

200 matching diseasesClear search ×

OBSOLETE: Microcephaly-seizures-developmental delay syndrome

OBSOLETE: MCSZ

ORPHA:228418

OBSOLETE: Sporadic Leigh syndrome

OBSOLETE: Sporadic Leigh disease · OBSOLETE: Sporadic infantile subacute necrotizing encephalopathy

ORPHA:255199

Orbital leiomyoma

ORPHA:52994

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Al Gazali-Nair syndrome

ORPHA:2773

Panuveitis

Total uveitis

ORPHA:280898

Paraneoplastic uveitis

ORPHA:279928

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

PLACK syndrome

ORPHA:444138

Pfeiffer syndrome

ACS5 · Acrocephalosyndactyly type 5

ORPHA:710