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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
 primary_id: OMIM:613652;   RDO:9000204
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM
ClinVar
PMID:7594474 PMID:8840296 PMID:9225968 PMID:21654842 PMID:25741868 More... NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
JBrowse link
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: C1Q deficiency OMIM
ClinVar
PMID:2894352 PMID:17513176 PMID:21654842 PMID:24160257 PMID:25741868 More... NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
JBrowse link
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: C1Q deficiency OMIM
ClinVar
PMID:7029321 PMID:7900940 PMID:8630118 PMID:21654842 PMID:24157463 More... NCBI chr 5:149,127,424...149,130,732
Ensembl chr 5:149,127,415...149,131,017
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      primary immunodeficiency disease 3820
        C1q Deficiency 3
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Immune & Inflammatory Diseases 5154
        immune system disease 4479
          primary immunodeficiency disease 3820
            autoimmune disease 2286
              autoimmune disease of musculoskeletal system 964
                lupus erythematosus 208
                  systemic lupus erythematosus 202
                    C1q Deficiency 3
paths to the root