vitamin D-dependent rickets type 2A Disease Ontology Browser

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Disease Ontology Browser

vitamin D-dependent rickets type 2A (DOID:0080884)
Alliance: disease page
Alt IDs: OMIM:277440, ORDO:93160
Definition: A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q.

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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