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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: FHHNC with severe ocular involvement, Meier-Blumberg-Imahorn syndrome, bilateral macular coloboma with hypercalciuria, familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement, hypercalciuria-bilateral macular coloboma syndrome,
Xenbase Genes
:
cldn19
| MONDO:0009548 - renal hypomagnesemia 5 with ocular involvement |
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)