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 )
Relationships
is a type of:
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
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.