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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:complement component 9 deficiency
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Accession:DOID:0060303 term browser browse the term
Definition:A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene. (DO)
Synonyms:exact_synonym: C9 deficiency;   C9D
 broad_synonym: C9-RELATED CONDITION
 primary_id: MESH:C565165
 alt_id: OMIM:613825
 xref: ICD10CM:D84.1;   ORDO:169150


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complement component 9 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9 complement C9 susceptibility ISO ClinVar Annotator: match by term: C9-related condition | ClinVar Annotator: match by term: Complement component 9 deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2241452 PMID:9144525 PMID:9182899 PMID:9570574 PMID:9634479 More... NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        complement deficiency 49
          complement component 9 deficiency 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Immune & Inflammatory Diseases 5566
        immune system disease 4773
          primary immunodeficiency disease 4146
            complement deficiency 49
              complement component 9 deficiency 1
paths to the root