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"

3 matching diseasesClear search ×

Coxopodopatellar syndrome

Ischiopubicpatellar syndrome · Ischiocoxopodopatellar syndrome

ORPHA:1509

Genitopatellar syndrome

Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

ORPHA:85201

Nail-patella syndrome

Onychoosteodysplasia · Turner-Kieser syndrome

ORPHA:2614