Search Ontology:
Human Disease

autosomal dominant hypocalcemia 1

Term ID
DOID:0090107
Synonyms
  • HYPOC1
Definition
An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21. https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia
References
Ontology
Human Disease   ( DOID:0090107 )
Relationships
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Genes Involved
Zebrafish Models