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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"
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
Finucane-Kurtz-Scott syndrome · Epiphyseal dysplasia-deafness-dysmorphism syndrome
Aarskog-Scott syndrome
Aarskog syndrome · Faciodigitogenital syndrome
ANE syndrome
Alopecia-progressive neurological defect-endocrinopathy syndrome
Coxopodopatellar syndrome
Ischiopubicpatellar syndrome · Ischiocoxopodopatellar syndrome
FATCO syndrome
Hecht-Scott syndrome · Fibular aplasia-tibial campomelia-oligosyndactyly syndrome
Scott syndrome