Dataset | OMIM Gene-Disease Associations |
Category | disease or phenotype associations |
Type | phenotype |
Description | A metal metabolism disorder that results from the inactivation of hormone-like substances (phosphatonins) that promote phosphate excretion which has_material_basis_in a X-linked mutation in the PHEX gene. (Human Disease Ontology, DOID_0050445) |
External Link | http://www.omim.org/entry/307800 |
Similar Terms | |
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1 genes associated with the hypophosphatemic rickets, x-linked dominant phenotype from the curated OMIM Gene-Disease Associations dataset.
Symbol | Name |
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PHEX | phosphate regulating endopeptidase homolog, X-linked |