COMP-related skeletal dysplasia
MONDO:0100593Mondo
Findings
No curated finding names COMP-related skeletal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any skeletal disorder in which the cause of the disease is a variant in the COMP gene. This includes pseudoachondroplasia and multiple epiphyseal dysplasia.
Definition from the Mondo Disease Ontology (MONDO:0100593), 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.
- COMPHGNC:2227
- Definitive · ClinGen · Autosomal dominant · 2025
- Definitive · G2P · Autosomal dominant · 2026
Where it sits
- A kind of
- Narrower terms (2)