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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"
Perrault syndrome type 2
XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations
Gingival fibromatosis-progressive deafness syndrome
Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome
Pellagra-like skin rash-neurological manifestations syndrome
Perrault syndrome
XX gonadal dysgenesis-hearing loss syndrome · XX gonadal dysgenesis-deafness syndrome
Perrault syndrome type 1
XX gonadal dysgenesis-deafness syndrome-without neurological manifestations