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About: familial cold autoinflammatory syndrome 3     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
  • familial cold autoinflammatory syndrome 3
described by
id
  • DOID:0090064
database_cross_reference
  • ICD10CM:L50.2
  • OMIM:614468
  • ORDO:300359
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q.
is topic of
is annotatedSource of
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