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About: autosomal dominant hypocalcemia 1     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
  • autosomal dominant hypocalcemia 1
described by
id
  • DOID:0090107
database_cross_reference
  • OMIM:601198
has_exact_synonym
  • HYPOC1 (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21.
is topic of
is annotatedSource of
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