Search Ontology:
Human Disease

familial hypocalciuric hypercalcemia 1

Term ID
DOID:0060700
Synonyms
  • familial benign hypercalcemia 1
  • familial hypocalciuric hypercalcemia type I
  • FHH type 1
  • HHC1
  • hypocalciuric hypercalcemia type I
Definition
A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. https://www.ncbi.nlm.nih.gov/pubmed/7916660
References
Ontology
Human Disease   ( DOID:0060700 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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