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| Term | familial hypocalciuric hypercalcemia 1 | ID (Ontology) | DOID:0060700 (Human Disease) |
| Definition | A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. | ||
| Also Known As | "familial benign hypercalcemia 1" ; "familial hypocalciuric hypercalcemia type I" ; "FHH type 1" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal dominant disease____ hypercalcemia_________________| inherited metabolic disorder__| familial hypocalciuric hypercalcemia |__familial hypocalciuric hypercalcemia 1 |
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| Is a | familial hypocalciuric hypercalcemia | ||
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ICD10CM:E83.5 MIM:145980 ORDO:93372 |
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