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DO Term : familial cold autoinflammatory syndrome 3 [DOID:0090064] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • FCAS3,
  • 614468,
  • PLCG2-associated antibody deficiency and immune dysregulation,
  • ICD10CM:L50.2,
  • ORDO:300359,
  • OMIM:614468,
  • familial atypical cold urticaria,
  • PLAID,
  • FACU,
  • phospholipase C gamma 2-associated antibody deficiency and immune dysregulation
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents