preaxial polydactyly I Disease Ontology Browser

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Disease Ontology Browser

preaxial polydactyly I (DOID:0060987)
Alliance: disease page
Alt IDs: OMIM:174400, ORDO:93339
Definition: A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13.

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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