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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"
Oculodentodigital dysplasia
Oculo-dento-digital dysplasia · ODOD syndrome
Ectodermal dysplasia-skin fragility syndrome
McGrath syndrome
Proximal myotonic myopathy
Myotonic dystrophy type 2 · Proximal myotonic dystrophy
Trigonocephaly-short stature-developmental delay syndrome
Say-Meyer syndrome
Urban-Rogers-Meyer syndrome
Intellectual disability-short stature-hand contractures-genital anomalies syndrome · Prader-Willi habitus-osteopenia-camptodactyly syndrome