autosomal dominant hypocalcemia 1

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Summary

Literature (0)

DOID:0090107 - autosomal dominant hypocalcemia 1

Disease Ontology Definition:An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21.

Synonyms: HYPOC1

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

: casr

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011013 - autosomal dominant hypocalcemia 1

MONDO:0011013 - autosomal dominant hypocalcemia 1

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

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

Parent(s): autosomal dominant hypocalcemia (is_a)