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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


show annotations for term's descendants           Sort by:
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: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 ClinVar PMID:17513176 PMID:21654842 PMID:25741868 PMID:28492532 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 ClinVar PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 More... NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017 		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 CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534 		JBrowse link
C1q Deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: C1q deficiency 2 OMIM
ClinVar		 PMID:2894352 PMID:24160257 PMID:25741868 NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407 		JBrowse link
C1q Deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: C1q deficiency 3 OMIM
ClinVar		 PMID:7029321 PMID:8630118 PMID:24157463 PMID:28492532 NCBI chr 5:149,127,412...149,130,757
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 21112
    syndrome 10710
      primary immunodeficiency disease 4124
        C1q Deficiency 3
          C1q Deficiency 1 1
          C1q Deficiency 2 1
          C1q Deficiency 3 1
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      Immune & Inflammatory Diseases 5535
        immune system disease 4747
          primary immunodeficiency disease 4124
            autoimmune disease 2307
              autoimmune disease of musculoskeletal system 990
                lupus erythematosus 214
                  systemic lupus erythematosus 208
                    C1q Deficiency 3
                      C1q Deficiency 1 1
                      C1q Deficiency 2 1
                      C1q Deficiency 3 1
paths to the root