Search Ontology:
Human Disease

familial hypocalciuric hypercalcemia 3

Term ID
DOID:0060702
Synonyms
  • familial hypocalciuric hypercalcemia type 3
  • FHH type 3
  • HHC3
  • hypocalciuric hypercalcemia type III
Definition
A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/23222959
References
Ontology
Human Disease   ( DOID:0060702 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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