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DOID:0060881 - renal hypomagnesemia 5 with ocular involvement
Disease Ontology Definition:A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2.
Synonyms: bilateral macular coloboma with hypercalciuria, familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement, FHHNC with severe ocular involvement, hypercalciuria-bilateral macular coloboma syndrome, Meier-Blumberg-Imahorn syndrome
Xenbase Genes
:
cldn19
| MONDO:0009548 - hepatic sinusoid of left of lobe of liver |
| MIM:248190 - HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT; HOMG5 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
primary hypomagnesemia (is_a)