Term Name: | renal hypomagnesemia 5 with ocular involvement |
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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 |
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. |
Ontology: | Human Disease [DOID:0060881] ( DOID:0060881 ) |