OBO ID: DOID:0080181
Term Name: PHARC syndrome Search Ontology:
Synonyms:
  • polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
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
References:
Ontology: Human Disease   (DOID:0080181)
OTHER PHARC syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674
PHENOTYPE No data available

CITATIONS (1)