autosomal dominant hypocalcemia 1

Summary
Synonym
  • HYPOC1
Definition
An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21.
Super Class
autosomal dominant hypocalcemia
Disease Ontology
DOID:0090107
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
846 CASR calcium sensing receptor
Displaying 1 entry
Gene ID Gene Symbol Description Source
12374 Casr calcium-sensing receptor
Displaying 1 entry
Gene ID Gene Symbol Description Source
24247 Casr calcium-sensing receptor

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024