. "hypercalciuria-bilateral macular coloboma syndrome"@en . "FHHNC with severe ocular involvement"@en . . "DOID:0060881"^^ . "ORDO:2196"^^ . "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."^^ . "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement"@en . "renal hypomagnesemia 5 with ocular involvement"^^ . "Meier-Blumberg-Imahorn syndrome"@en . "MESH:C536148"^^ . "disease_ontology"^^ . . "UMLS_CUI:C2931121"^^ . "bilateral macular coloboma with hypercalciuria"@en . "OMIM:248190"^^ .