FAM111A-related skeletal dysplasia
MONDO:1060172Mondo
Findings
No curated finding names FAM111A-related skeletal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any skeletal dysplasia in which the cause of the disease is a variation in FAM111A gene.
Definition from the Mondo Disease Ontology (MONDO:1060172), read 2026-09-29. CC BY 4.0.
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.
- FAM111AHGNC:24725
- Definitive · ClinGen · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (2)