FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term renal hypomagnesemia 3 ID (Ontology) DOID:0060880 (Human Disease)
Definition A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28.
Also Known As "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement" ; "FHHNC without severe ocular involvement" ; "HOMG3" (for all, see Synonyms field below)
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  metal metabolism disorder
   |__primary hypomagnesemia
       |__renal hypomagnesemia 3
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Synonyms
  • "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement" EXACT
    "FHHNC without severe ocular involvement" EXACT
    "HOMG3" EXACT OMO:0003012
    "isolated renal hypomagnesemia" EXACT
    "primary hypomagnesemia due to defect in renal tubular transport of magnesium" EXACT
    "renal hypomagnesemia type 3" EXACT
Secondary IDs
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ICD10CM:E83.4
MIM:248250
ORDO:31043