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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:Complement Component C1s Deficiency
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Accession:DOID:9006194 term browser browse the term
Synonyms:exact_synonym: C1SD;   C1s Deficiency;   COMPLEMENT 1S DEFICIENCY
 primary_id: MESH:C565170;   RDO:0013893
 alt_id: OMIM:613783



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Complement Component C1s Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1S complement C1s ISO ClinVar Annotator: match by term: Complement component C1s deficiency OMIM
ClinVar
PMID:9973493 PMID:11390518 PMID:19155518 PMID:25741868 PMID:28492532 NCBI chr27:37,976,196...37,985,846
Ensembl chr27:37,976,197...37,989,575
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Complement component C1s deficiency ClinVar PMID:25741868 NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17775
    syndrome 10014
      primary immunodeficiency disease 3731
        complement deficiency 49
          Complement Component C1r/C1s Deficiency 2
            Complement Component C1s Deficiency 2
Path 2
Term Annotations click to browse term
  disease 17775
    disease of anatomical entity 15136
      Immune & Inflammatory Diseases 5002
        immune system disease 4332
          primary immunodeficiency disease 3731
            complement deficiency 49
              Complement Component C1r/C1s Deficiency 2
                Complement Component C1s Deficiency 2
paths to the root