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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
familial hypocalciuric hypercalcemia 1  
familial hypocalciuric hypercalcemia 2  
familial hypocalciuric hypercalcemia 3  
A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. (DO)

Synonyms
Exact Synonyms: FBH3 ;   FHH type 3 ;   HHC3 ;   familial benign hypercalcemia, Oklahoma type ;   familial benign hypercalcemia, Oklahoma variant ;   familial benign hypercalcemia, type III ;   familial hypocalciuric hypercalcemia type 3 ;   familial hypocalciuric hypercalcemia type III ;   hypocalciuric hypercalcemia type III
Primary IDs: MESH:C537147
Alternate IDs: OMIM:600740
Xrefs: GARD:2878 ;   ORDO:101050
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23222959 "DO" "DO"

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