# PHARC syndrome

> autosomal recessive disease that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract

**Wikidata**: [Q32137273](https://www.wikidata.org/wiki/Q32137273)  
**Source**: https://4ort.xyz/entity/pharc-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/ccd68c20-2024-4239-be51-26697e19a6b4--2018-06-28T16:45:15)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccd68c20-2024-4239-be51-26697e19a6b4-2018-06-28T164515.791Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000100997/MONDO_0012984)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000100997/Orphanet_171848)
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)
10. UMLS 2023