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"

6 matching diseasesClear search ×

Cardiospondylocarpofacial syndrome

Forney-Robinson-Pascoe syndrome · Mitral regurgitation-deafness-skeletal anomalies syndrome

ORPHA:3238

PASH syndrome

Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome

ORPHA:289478

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

ORPHA:641385

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

ORPHA:97360

Robinow-like syndrome

Saal-Greenstein syndrome

ORPHA:3105

X-linked intellectual disability, Snyder type

Snyder-Robinson syndrome

ORPHA:3063