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7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
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"
Urban-Rogers-Meyer syndrome
Intellectual disability-short stature-hand contractures-genital anomalies syndrome · Prader-Willi habitus-osteopenia-camptodactyly syndrome
Camptodactyly-joint contractures-facial skeletal defects syndrome
Rozin camptodactyly syndrome
Camptodactyly-taurinuria syndrome
Familial streblodactyly with amino-aciduria
Prader-Willi syndrome
Prader-Labhart-Willi syndrome
Prader-Willi-like syndrome
PWS-like
Tel Hashomer camptodactyly syndrome
Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome