TRPV4-related bone disorder
MONDO:0018240Mondo
Findings
No curated finding names TRPV4-related bone disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- TRPV4HGNC:18083
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · Illumina · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: TRPV4-related bone disorder
- Also called
- TRPV4-related skeletal dysplasia