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"

103 matching diseasesClear search ×

Pyknoachondrogenesis

Camera syndrome

ORPHA:3003

Renal-hepatic-pancreatic dysplasia

Ivemark II syndrome · Renohepaticopancreatic dysplasia

ORPHA:294415

Right isomerism

Ivemark syndrome · Right atrial isomerism

ORPHA:97548

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

ORPHA:53721

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

ORPHA:689822

W syndrome

Pallister-W syndrome

ORPHA:2804

X-linked intellectual disability, Cabezas type

Cabezas syndrome

ORPHA:85293