Term Name: | renal hypomagnesemia 3 |
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Synonyms: | familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement, FHHNC without severe ocular involvement, HOMG3, isolated renal hypomagnesemia, primary hypomagnesemia due to defect in renal tubular transport of magnesium, renal hypomagnesemia type 3 |
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. |
Ontology: | Human Disease [DOID:0060880] ( DOID:0060880 ) |