brachydactyly type D
MONDO:0007222Mondo
Findings
No curated finding names brachydactyly type D yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.
Definition from the Mondo Disease Ontology (MONDO:0007222), 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
1 name
Resolves to: brachydactyly type D
- Also called
- BDD