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DO Term : renal hypomagnesemia 5 with ocular involvement [DOID:0060881] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • MESH:C536148,
  • hypercalciuria-bilateral macular coloboma syndrome,
  • UMLS_CUI:C2931121,
  • ORDO:2196,
  • OMIM:248190,
  • FHHNC with severe ocular involvement,
  • bilateral macular coloboma with hypercalciuria,
  • 248190,
  • familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement,
  • Meier-Blumberg-Imahorn syndrome
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