OBO ID: DOID:0060702
Term Name: familial hypocalciuric hypercalcemia 3 Search Ontology:
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)
OTHER familial hypocalciuric hypercalcemia 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AP2S1 Hypocalciuric hypercalcemia, type III 600740
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None