Metadata | |
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ID | DOID:0060880 |
Name | renal hypomagnesemia 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. https://www.ncbi.nlm.nih.gov/pubmed/10390358, https://www.ncbi.nlm.nih.gov/pubmed/16501001 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement [EXACT] FHHNC without severe ocular involvement [EXACT] HOMG3 [EXACT] isolated renal hypomagnesemia [EXACT] primary hypomagnesemia due to defect in renal tubular transport of magnesium [EXACT] renal hypomagnesemia type 3 [EXACT] |
Parent Relationships |