Search Ontology:
Human Disease

brachydactyly type E1

Term ID
DOID:0110972
Synonyms
  • 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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models