brachydactyly
MONDO:0021004Mondo
Findings
No curated finding names brachydactyly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms.
Definition from the Mondo Disease Ontology (MONDO:0021004), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.
- BrachydactylyMondoHP:0001156
Genes
2 genes
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.
Where it sits
- Narrower terms (22)
- Ballard syndrome
- Berk-Tabatznik syndrome
- brachydactyly type A1
- brachydactyly type A1A
- brachydactyly type A1B
- brachydactyly type A1C
- brachydactyly type A1D
- brachydactyly type A2
- brachydactyly type A3
- brachydactyly type A4
- brachydactyly type A5
- brachydactyly type A7
- brachydactyly type B
- brachydactyly type C
- brachydactyly type D
- brachydactyly type E
- brachydactyly-arterial hypertension syndrome
- camptobrachydactyly
- Cooks syndrome
- non-syndromic brachydactyly
- Osebold-Remondini syndrome
Other names
1 name
Resolves to: brachydactyly
- Also called
- brachydactyly (disease)