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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
 alt_id: OMIM:613791



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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: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2 | ClinVar Annotator: match by term: MASP2 deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12904520 PMID:15086395 PMID:16029433 PMID:17137870 PMID:17252003 More... NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2 | ClinVar Annotator: match by term: MASP2 deficiency ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    syndrome 10776
      primary immunodeficiency disease 4140
        complement deficiency 49
          Lectin Complement Activation Pathway Defects 3
            MASP2 Deficiency 2
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      Immune & Inflammatory Diseases 5558
        immune system disease 4767
          primary immunodeficiency disease 4140
            complement deficiency 49
              Lectin Complement Activation Pathway Defects 3
                MASP2 Deficiency 2
paths to the root