X-linked hypoparathyroidism

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Summary

Literature (0)

DOID:0111388 - X-linked hypoparathyroidism

Disease Ontology Definition:A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3.

Synonyms: HYPX, agenesis of parathyroid glands,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): X-linked monogenic disease (is_a), hypoparathyroidism (is_a)