FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term renal hypomagnesemia 5 with ocular involvement ID (Ontology) DOID:0060881 (Human Disease)
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.
Also Known As "bilateral macular coloboma with hypercalciuria" ; "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement" ; "FHHNC with severe ocular involvement" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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  metal metabolism disorder
   |__primary hypomagnesemia
       |__renal hypomagnesemia 5 with ocular involvement
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Synonyms
  • "bilateral macular coloboma with hypercalciuria" EXACT
    "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement" EXACT
    "FHHNC with severe ocular involvement" EXACT
    "hypercalciuria-bilateral macular coloboma syndrome" EXACT
    "Meier-Blumberg-Imahorn syndrome" EXACT
Secondary IDs
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MESH:C536148
MIM:248190
ORDO:2196
UMLS_CUI:C2931121