vitamin D-dependent rickets type 1B Disease Ontology Browser

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Disease Ontology Browser

vitamin D-dependent rickets type 1B (DOID:0080887)
Alliance: disease page
Alt IDs: OMIM:600081, ORDO:289157
Definition: A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15.

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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