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Metadata
ID DOID:0080181
Name PHARC syndrome
Definition A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract.
https://www.ncbi.nlm.nih.gov/pubmed/24697911
Xrefs

OMIM:612674

ORDO:171848

Synonyms

polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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