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"

8 matching diseasesClear search ×

Aniridia-absent patella syndrome

ORPHA:1069

Aniridia-cerebellar ataxia-intellectual disability syndrome

Gillespie syndrome

ORPHA:1065

Aniridia-intellectual disability syndrome

Walker-Dyson syndrome

ORPHA:1068

Aniridia-ptosis-intellectual disability-familial obesity syndrome

ORPHA:1067

Aniridia-renal agenesis-psychomotor retardation syndrome

Sommer-Rathbun-Battles syndrome

ORPHA:1064

Isolated aniridia

ORPHA:250923

OBSOLETE: Aniridia

ORPHA:77

Syndromic aniridia

ORPHA:98557