familial isolated hypoparathyroidism

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Summary

Literature (0)

DOID:0111387 - familial isolated hypoparathyroidism

Disease Ontology Definition:A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in the GCM2 gene on chromosome 11p15.3.

Synonyms: FIH,

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

: gcm2, pth, casr

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

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

Parent(s): hypoparathyroidism (is_a)