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 ×

Thrombocythemia with distal limb defects

Familial thrombocytosis with transverse limb defect · Hereditary thrombocytosis with transverse limb defect

ORPHA:329319

Adams-Oliver syndrome

AOS · Congenital scalp defects with distal limb anomalies

ORPHA:974

Familial thrombocytosis

Familial thrombocythemia · Hereditary thrombocythemia

ORPHA:71493

Non-syndromic terminal transverse limb defect

ORPHA:498461