# BOSMA Arhinia Microphthalmia Syndrome

> hereditary disease

**Wikidata**: [Q55783319](https://www.wikidata.org/wiki/Q55783319)  
**Source**: https://4ort.xyz/entity/bosma-arhinia-microphthalmia-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
3. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2f2b442-3afa-4427-8e9b-3dc2485790aa-2022-05-20T042139.263Z)
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000101596/MONDO_0011323)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000101596/Orphanet_1135)