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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 Factor D Deficiency
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Accession:DOID:9001385 term browser browse the term
Synonyms:exact_synonym: CFD-RELATED CONDITION;   CFDD;   Factor D Deficiency
 primary_id: MESH:C565027
 alt_id: OMIM:613912


show annotations for term's descendants           Sort by:
Complement Factor D Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFD complement factor D ISO ClinVar Annotator: match by term: CFD-related condition | ClinVar Annotator: match by term: Complement factor d deficiency OMIM
ClinVar		 PMID:11457876 PMID:25741868 PMID:28492532 NCBI chr20:57,785,297...57,787,773
Ensembl chr20:57,657,154...57,787,713 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    syndrome 10062
      primary immunodeficiency disease 3733
        complement deficiency 49
          Complement Factor D Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      Immune & Inflammatory Diseases 5006
        immune system disease 4334
          primary immunodeficiency disease 3733
            complement deficiency 49
              Complement Factor D Deficiency 1
paths to the root