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PHARC syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0080181
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001761 | Pes cavus |
| HP:0000762 | Decreased nerve conduction velocity |
| HP:0007108 | Demyelinating peripheral neuropathy |
| HP:0000518 | Cataract |
| HP:0003487 | Babinski sign |
| HP:0001265 | Hyporeflexia |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0001310 | Dysmetria |
| HP:0003677 | Slowly progressive |
| HP:0000639 | Nystagmus |
