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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 2
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Accession:DOID:9006341 term browser browse the term
Definition:A C1q deficiency caused by homozygous mutation in the C1QB gene on chromosome 1p36.
Synonyms:exact_synonym: C1QD2
 primary_id: MIM:620321

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Path 1
Term Annotations click to browse term
  disease 14620
    syndrome 9906
      primary immunodeficiency disease 3807
        C1q Deficiency 2
          C1q Deficiency 2 0
Path 2
Term Annotations click to browse term
  disease 14620
    disease of anatomical entity 14324
      Immune & Inflammatory Diseases 4907
        immune system disease 4363
          primary immunodeficiency disease 3807
            autoimmune disease 1942
              autoimmune disease of musculoskeletal system 860
                lupus erythematosus 191
                  systemic lupus erythematosus 186
                    C1q Deficiency 2
                      C1q Deficiency 2 0
paths to the root