orofacial cleft 5
MONDO:0012142Mondo
Findings
No curated finding names orofacial cleft 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012142), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cleft palateHPOHP:0000175
- Congenital onset
- Cleft upper lipHPOHP:0000204
- Congenital onset
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MSX1HGNC:7391
- Definitive · G2P · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: orofacial cleft 5
- Also called
- MSX1 orofacial cleftorofacial cleft caused by mutation in MSX1orofacial cleft type 5