Search Ontology:
Human Disease
PHARC syndrome
- Term ID
- DOID:0080181
- Synonyms
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- 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
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- MIM:612674
- ORDO:171848
- Ontology
- Human Disease ( DOID:0080181 )
- is a type of
-
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Other Pages
Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| ABHD12 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | PHARC syndrome | 612674 |
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Zebrafish Models