brachydactyly type E1 Disease Ontology Browser

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Disease Ontology Browser

brachydactyly type E1 (DOID:0110972)
Alliance: disease page
Synonyms: BDE1
Alt IDs: OMIM:113300
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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