Search Ontology:
Human Disease
brachydactyly type E1
- Term ID
- DOID:0110972
- Synonyms
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- BDE1
- Definition
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0110972 )
- is a type of
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Genes Involved
Zebrafish Models