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About: renal hypomagnesemia 5 with ocular involvement     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • renal hypomagnesemia 5 with ocular involvement
described by
id
  • DOID:0060881
database_cross_reference
  • MESH:C536148
  • OMIM:248190
  • ORDO:2196
  • UMLS_CUI:C2931121
has_exact_synonym
  • FHHNC with severe ocular involvement (en)
  • Meier-Blumberg-Imahorn syndrome (en)
  • bilateral macular coloboma with hypercalciuria (en)
  • hypercalciuria-bilateral macular coloboma syndrome (en)
  • familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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