brachydactyly type E1
Information
- Disease name
- brachydactyly type E1
- Disease ID
- DOID:0110972
- Description
- "A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12649808, url:https\://www.ncbi.nlm.nih.gov/pubmed/8933344]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050581
- Cross Reference ID (Disease Ontology)
- MIM:113300
- Exact Synonym (Disease Ontology)
- BDE1