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 ×

Urban-Rogers-Meyer syndrome

Intellectual disability-short stature-hand contractures-genital anomalies syndrome · Prader-Willi habitus-osteopenia-camptodactyly syndrome

ORPHA:3409

Camptodactyly-joint contractures-facial skeletal defects syndrome

Rozin camptodactyly syndrome

ORPHA:1323

Camptodactyly-taurinuria syndrome

Familial streblodactyly with amino-aciduria

ORPHA:1325

Prader-Willi syndrome

Prader-Labhart-Willi syndrome

ORPHA:739

Prader-Willi-like syndrome

PWS-like

ORPHA:398073

Tel Hashomer camptodactyly syndrome

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

ORPHA:3292