OBO ID: DOID:8354
Term Name: complement component 3 deficiency Search Ontology:
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:
  • NCI:C9468
  • OMIM:613779
  • ORDO:280133
  • SNOMEDCT_US_2020_09_01:771443008
  • UMLS_CUI:C1332655
Ontology: Human Disease   (DOID:8354)
OTHER complement component 3 deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
C3 C3 deficiency 613779
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None