# Oliver–McFarlane syndrome

> autosomal recessive disease characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has material basis in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2

**Wikidata**: [Q7087988](https://www.wikidata.org/wiki/Q7087988)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Oliver–McFarlane_syndrome)  
**Source**: https://4ort.xyz/entity/oliver-mcfarlane-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000032444/MONDO_0010152)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000032444/Orphanet_3363)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)