FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term familial hypocalciuric hypercalcemia 3 ID (Ontology) DOID:0060702 (Human Disease)
Definition A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13.
Also Known As "familial hypocalciuric hypercalcemia type 3" ; "FHH type 3" ; "HHC3" (for all, see Synonyms field below)
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 Genes
 familial hypocalciuric hypercalcemia 3       1
 for disease ribbon | familial hypocalciuric hypercalcemia 3       1
 model of | familial hypocalciuric hypercalcemia 3       1
Spanning Tree (Parents/Children)
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autosomal dominant disease____
hypercalcemia_________________|
inherited metabolic disorder__|
                              familial hypocalciuric hypercalcemia
                               |__familial hypocalciuric hypercalcemia 3  1 rec.
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Is a familial hypocalciuric hypercalcemia
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Synonyms
  • "familial hypocalciuric hypercalcemia type 3" EXACT
    "FHH type 3" EXACT
    "HHC3" EXACT OMO:0003012
    "hypocalciuric hypercalcemia type III" EXACT
Secondary IDs
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GARD:2878
ICD10CM:E83.5
MIM:600740
ORDO:101050