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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:Immunodeficiency due to Ficolin 3 Deficiency
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Accession:DOID:9003220 term browser browse the term
Synonyms:exact_synonym: FCN3 Deficiency;   Ficolin 3 Deficiency;   LCAPD3;   LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 3
 primary_id: OMIM:613860;   RDO:9000474
For additional species annotation, visit the Alliance of Genome Resources.



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Immunodeficiency due to Ficolin 3 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcna ficolin A ISO ClinVar Annotator: match by term: FICOLIN 3 DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency due to ficolin 3 deficiency OMIM
ClinVar
PMID:19535802 PMID:20971976 PMID:22226667 PMID:25662573 PMID:25741868 NCBI chr 3:8,445,904...8,449,128
Ensembl chr 3:8,445,907...8,449,105
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      primary immunodeficiency disease 3831
        Immunodeficiency due to Ficolin 3 Deficiency 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Immune & Inflammatory Diseases 5178
        immune system disease 4487
          primary immunodeficiency disease 3831
            Immunodeficiency due to Ficolin 3 Deficiency 1
paths to the root