Search Ontology:
Human Disease

complement component 3 deficiency

Term ID
DOID:8354
Synonyms
  • C3 deficiency
Definition
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. https://www.omim.org/entry/613779
References
  • MIM:613779
  • NCI:C9468
  • ORDO:280133
  • SNOMEDCT_US_2023_03_01:771443008
  • UMLS_CUI:C1332655
Ontology
Human Disease   ( DOID:8354 )
Relationships
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Genes Involved
Zebrafish Models