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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:MASP2 Deficiency
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Accession:DOID:9002347 term browser browse the term
Synonyms:exact_synonym: LCAPD2;   LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2
 primary_id: MESH:C565360;   RDO:0014016
 alt_id: OMIM:613791
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
MASP2 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: MASP2 deficiency
ClinVar Annotator: match by OMIM:613791
OMIM
ClinVar
PMID:12904520 PMID:15086395 PMID:16029433 PMID:17137870 PMID:17252003 PMID:19234189 PMID:19307021 PMID:24033266 PMID:24332888 PMID:24658431 PMID:25741868 PMID:25930971 PMID:28492532 NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: MASP2 deficiency ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      primary immunodeficiency disease 2693
        MASP2 Deficiency 2
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      Immune & Inflammatory Diseases 3878
        immune system disease 3247
          primary immunodeficiency disease 2693
            MASP2 Deficiency 2
paths to the root