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"

8 matching diseasesClear search ×

Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

Pericarditis-arthropathy-camptodactyly syndrome · Arthropathy-camptodactyly syndrome

ORPHA:2848

Camptodactyly-joint contractures-facial skeletal defects syndrome

Rozin camptodactyly syndrome

ORPHA:1323

Camptodactyly-taurinuria syndrome

Familial streblodactyly with amino-aciduria

ORPHA:1325

Ectrodactyly-spina bifida-cardiopathy syndrome

Kasznica-Carlson-Coppedge syndrome

ORPHA:1894

Eye defects-arachnodactyly-cardiopathy syndrome

Al Gazali-Al Talabani syndrome · Al Gazali-Lytle syndrome

ORPHA:2725

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

ORPHA:376

Spondylocamptodactyly syndrome

ORPHA:3180

Tel Hashomer camptodactyly syndrome

Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome

ORPHA:3292