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"

10 matching diseasesClear search ×

OBSOLETE: Sakati-Nyhan syndrome

OBSOLETE: ACPS III · OBSOLETE: Sakati syndrome

ORPHA:3128

Complete atrioventricular septal defect with ventricular hypoplasia

CAVC with ventricular hypoplasia · Complete atrioventricular canal defect with ventricular hypoplasia

ORPHA:99067

OBSOLETE: Femoral agenesis/hypoplasia, bilateral

OBSOLETE: Femoral intercalary meromelia, bilateral

ORPHA:295067

OBSOLETE: Femoral agenesis/hypoplasia, unilateral

OBSOLETE: Femoral intercalary meromelia, unilateral

ORPHA:295065

OBSOLETE: Humeral agenesis/hypoplasia, bilateral

OBSOLETE: Humeral intercalary meromelia, bilateral

ORPHA:295063

OBSOLETE: Humeral agenesis/hypoplasia, unilateral

OBSOLETE: Humeral intercalary meromelia, unilateral

ORPHA:295061

OBSOLETE: Isolated optic nerve hypoplasia/aplasia

ORPHA:137902

OBSOLETE: Patella aplasia/hypoplasia, bilateral

ORPHA:295041

OBSOLETE: Patella aplasia/hypoplasia, unilateral

ORPHA:295038

OBSOLETE: Rare bone disease with limb reduction defect

OBSOLETE: Rare bone disease with limb hypoplasia

ORPHA:328269