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DO Term : renal hypomagnesemia 3 [DOID:0060880] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • primary hypomagnesemia due to defect in renal tubular transport of magnesium,
  • HOMG3,
  • FHHNC without severe ocular involvement,
  • ORDO:31043,
  • isolated renal hypomagnesemia,
  • familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,
  • ICD10CM:E83.4,
  • 248250,
  • renal hypomagnesemia type 3,
  • OMIM:248250
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