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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:C1q Deficiency
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Accession:DOID:9007516 term browser browse the term
Synonyms:exact_synonym: C1QD;   Complement Component C1q Deficiency
 xref: OMIM:PS613652

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C1q Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qa complement C1q A chain ISO ClinVar Annotator: match by term: C1Q deficiency ClinVar PMID:7594474 PMID:8840296 PMID:9225968 PMID:9590289 PMID:21654842 More... NCBI chrNW_004936474:8,007,953...8,010,591
Ensembl chrNW_004936474:8,008,534...8,010,191 		JBrowse link
G LOC101960229 complement C1q subcomponent subunit C ISO ClinVar Annotator: match by term: C1Q deficiency ClinVar PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 More... NCBI chrNW_004936474:8,013,395...8,016,937
Ensembl chrNW_004936474:8,013,359...8,016,959 		JBrowse link
C1q Deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qa complement C1q A chain ISO ClinVar Annotator: match by term: C1Q deficiency 1 OMIM
ClinVar		 PMID:25741916 NCBI chrNW_004936474:8,007,953...8,010,591
Ensembl chrNW_004936474:8,008,534...8,010,191 		JBrowse link
C1q Deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101960229 complement C1q subcomponent subunit C ISO ClinVar Annotator: match by term: C1Q deficiency 3 OMIM
ClinVar		 PMID:7029321 PMID:8630118 PMID:24157463 PMID:28492532 NCBI chrNW_004936474:8,013,395...8,016,937
Ensembl chrNW_004936474:8,013,359...8,016,959 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      primary immunodeficiency disease 3540
        C1q Deficiency 2
          C1q Deficiency 1 1
          C1q Deficiency 2 0
          C1q Deficiency 3 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Immune & Inflammatory Diseases 4721
        immune system disease 4107
          primary immunodeficiency disease 3540
            autoimmune disease 1897
              autoimmune disease of musculoskeletal system 853
                lupus erythematosus 188
                  systemic lupus erythematosus 183
                    C1q Deficiency 2
                      C1q Deficiency 1 1
                      C1q Deficiency 2 0
                      C1q Deficiency 3 1
paths to the root