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Metadata
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

ICD10CM:E83.4

OMIM:248250

ORDO:31043

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

is_a primary hypomagnesemia

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