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About: hyperekplexia 2     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
  • hyperekplexia 2
described by
id
  • DOID:0060697
database_cross_reference
  • ICD10CM:G25.8
  • OMIM:614619
  • ORDO:3197
has_exact_synonym
  • HKPX2 (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.
is topic of
is annotatedSource of
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