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Metadata
ID DOID:0110972
Name brachydactyly type E1
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.
https://www.ncbi.nlm.nih.gov/pubmed/12649808, https://www.ncbi.nlm.nih.gov/pubmed/8933344
Xrefs

OMIM:113300

Synonyms

BDE1 [EXACT]

Parent Relationships

is_a brachydactyly

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