Search Ontology:
Human Disease

renal hypomagnesemia 5 with ocular involvement

Term ID
DOID:0060881
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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