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Disease Ontology Browser
renal hypomagnesemia 3 (DOID:0060880)
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
Alt IDs: OMIM:248250, ICD10CM:E83.4, ORDO:31043
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.

Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/16/2017
MGI 6.09
The Jackson Laboratory