OBO ID: DOID:0060881
Term Name: renal hypomagnesemia 5 with ocular involvement Search Ontology:
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. https://www.ncbi.nlm.nih.gov/pubmed/17033971
References:
Ontology: Human Disease   ( DOID:0060881 )
Relationships
is a type of:
OTHER renal hypomagnesemia 5 with ocular involvement PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CLDN19 Hypomagnesemia 5, renal, with ocular involvement 248190
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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