# urofacial syndrome

> autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding

**Wikidata**: [Q4352832](https://www.wikidata.org/wiki/Q4352832)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Urofacial_syndrome)  
**Source**: https://4ort.xyz/entity/urofacial-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000172987/MONDO_0000463)
6. LRIG2 mutations cause urofacial syndrome
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000198799/MONDO_0000463)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)