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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: MIM: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:9590289 PMID:21654842 More... NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:154,417,087...154,427,732 		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 5:154,402,276...154,407,827
Ensembl chr 5:154,402,279...154,407,840 		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 5:154,410,845...154,414,208
Ensembl chr 5:154,410,848...154,414,468 		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 | ClinVar Annotator: match by term: C1QA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:154,417,087...154,427,732 		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 | ClinVar Annotator: match by term: C1QB-related condition OMIM
ClinVar		 PMID:2894352 PMID:24160257 PMID:25741868 PMID:28492532 NCBI chr 5:154,402,276...154,407,827
Ensembl chr 5:154,402,279...154,407,840 		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 | ClinVar Annotator: match by term: C1QC-related condition OMIM
ClinVar		 PMID:7029321 PMID:8630118 PMID:24157463 PMID:25741868 PMID:28492532 NCBI chr 5:154,410,845...154,414,208
Ensembl chr 5:154,410,848...154,414,468 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    syndrome 11394
      primary immunodeficiency disease 4489
        C1q Deficiency 3
          C1q Deficiency 1 1
          C1q Deficiency 2 1
          C1q Deficiency 3 1
Path 2
Term Annotations click to browse term
  disease 19154
    disease of anatomical entity 18461
      Immune & Inflammatory Diseases 5769
        immune system disease 5082
          primary immunodeficiency disease 4489
            autoimmune disease 2380
              autoimmune disease of musculoskeletal system 1005
                lupus erythematosus 219
                  systemic lupus erythematosus 213
                    C1q Deficiency 3
                      C1q Deficiency 1 1
                      C1q Deficiency 2 1
                      C1q Deficiency 3 1
paths to the root