|  Help  |  About  |  Contact Us

DO Term : type I complement component 8 deficiency [DOID:0060301] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes.
  • synonyms:
  • 613790,
  • OMIM:613790,
  • ICD10CM:D84.1,
  • ORDO:169150
Quick Links:
 
Quick Links:
 

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