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Disease Ontology Browser
renal hypomagnesemia 3 (DOID:0060880)
Alliance: disease page
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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory