Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract

Preferred Label : Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract;

NCIt synonyms : PHARC;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the ABHD12 gene, encoding lysophosphatidylserine lipase ABHD12. It is characterized by polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract.;

Details

Origin ID

C206116;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ABHD12 Gene [NCIt concept]

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