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Disease Ontology Browser
brachydactyly type C (DOID:0110970)
Alliance: disease page
Synonyms: BDC
Alt IDs: OMIM:113100, MESH:C537093, ORDO:93384, UMLS_CUI:C1300268, UMLS_CUI:C1862103
Definition: A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.

Disease References using Mouse Models (1)
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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory