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DOID:0060880 - renal hypomagnesemia 3
Disease Ontology 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.
Synonyms: FHHNC without severe ocular involvement, HOMG3, familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement, isolated renal hypomagnesemia, primary hypomagnesemia due to defect in renal tubular transport of magnesium, renal hypomagnesemia type 3,
Echinobase Genes
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| MIM:248250 - hypomagnesemia 3, renal; homg3 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
primary hypomagnesemia (is_a)