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Metadata
ID DOID:0060700
Name familial hypocalciuric hypercalcemia 1
Definition A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.
https://www.ncbi.nlm.nih.gov/pubmed/7916660
Xrefs

ICD10CM:E83.5

OMIM:145980

ORDO:93372

Subsets

DO_rare_slim

Synonyms

familial benign hypercalcemia 1 [EXACT]

familial hypocalciuric hypercalcemia type I [EXACT]

FHH type 1 [EXACT]

HHC1 [EXACT]

hypocalciuric hypercalcemia type I [EXACT]

Parent Relationships

is_a familial hypocalciuric hypercalcemia

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