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DO Term : complement component 3 deficiency [DOID:8354] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections.
  • synonyms:
  • C3 deficiency,
  • ORDO:280133,
  • SNOMEDCT_US_2023_03_01:771443008,
  • NCI:C9468,
  • 613779,
  • UMLS_CUI:C1332655,
  • OMIM:613779
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