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Metadata
ID DOID:0060701
Name familial hypocalciuric hypercalcemia 2
Definition A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13.
https://www.ncbi.nlm.nih.gov/pubmed/23802516
Xrefs

GARD:9758

ICD10CM:E83.5

OMIM:145981

ORDO:101049

Subsets

DO_rare_slim

Synonyms

familial hypocalciuric hypercalcemia type 2 [EXACT]

FHH type 2 [EXACT]

HHC2 [EXACT]

hypocalciuric hypercalcemia type II [EXACT]

Parent Relationships

is_a familial hypocalciuric hypercalcemia

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