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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:28492532 NCBI chr 5:155,261,254...155,264,101
Ensembl chr 5:155,261,250...155,264,143
JBrowse link
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: C1q deficiency
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:2894352, PMID:17513176, PMID:21654842, PMID:24160257, PMID:25741868, PMID:28492532 NCBI chr 5:155,246,444...155,251,995
Ensembl chr 5:155,246,447...155,252,003
JBrowse link
G C1qc complement C1q C chain ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: C1q deficiency
OMIM
ClinVar
PMID:7029321, PMID:7900940, PMID:8630118, PMID:21654842, PMID:24157463 NCBI chr 5:155,255,013...155,258,631
Ensembl chr 5:155,255,005...155,258,392
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      primary immunodeficiency disease 2348
        C1q Deficiency 3
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Immune & Inflammatory Diseases 3511
        immune system disease 2931
          primary immunodeficiency disease 2348
            autoimmune disease 1670
              autoimmune disease of musculoskeletal system 907
                lupus erythematosus 203
                  systemic lupus erythematosus 199
                    C1q Deficiency 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.