Term Name: renal hypomagnesemia 5 with ocular involvement
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 )

Relationships
is a type of: primary hypomagnesemia