# hypotrichosis with juvenile macular dystrophy

> a hypotrichosis that has material basis in a autosomal recessive mutation of CDH3 on chromosome 16q22.1.

**Wikidata**: [Q22132220](https://www.wikidata.org/wiki/Q22132220)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Hypotrichosis_with_juvenile_macular_dystrophy)  
**Source**: https://4ort.xyz/entity/hypotrichosis-with-juvenile-macular-dystrophy


## References

1. Monarch Disease Ontology release 2018-06-29
2. Splice Site Mutations in the P-Cadherin Gene Underlie Hypotrichosis with Juvenile Macular Dystrophy
3. Disease Ontology
4. UniProt
5. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000062038/MONDO_0011107)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000062038/Orphanet_1573)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)