brachydactyly type E1
MONDO:0007223Mondo
Findings
No curated finding names brachydactyly type E1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.
Definition from the Mondo Disease Ontology (MONDO:0007223), 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.
- HOXD13HGNC:5136
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: brachydactyly type E1
- Also called
- BDE1brachydactyly type E caused by mutation in HOXD13HOXD13 brachydactyly type E