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ONTOLOGY REPORT - ANNOTATIONS


Term:complement component 5 deficiency
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Accession:DOID:8158 term browser browse the term
Definition:A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system. (DO)
Synonyms:exact_synonym: C5 DEFICIENCY;   C5D;   Dysfunction of the fifth component of complement (C5);   Leiner disease
 primary_id: MESH:C537005;   RDO:0002746
 alt_id: OMIM:609536
 xref: NCI:C9469
For additional species annotation, visit the Alliance of Genome Resources.


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complement component 5 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C5 complement C5 JBrowse link 3
3
14,049,993
14,206,466
14,113,931
14,229,141
RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      primary immunodeficiency disease 957
        complement deficiency 28
          complement component 5 deficiency 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      Immune & Inflammatory Diseases 3103
        immune system disease 2524
          primary immunodeficiency disease 957
            complement deficiency 28
              complement component 5 deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.