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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 Defect in MAPBP-Interacting Protein
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Accession:DOID:9003777 term browser browse the term
Synonyms:primary_id: MESH:C563663
 alt_id: OMIM:610798
For additional species annotation, visit the Alliance of Genome Resources.


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Immunodeficiency due to Defect in MAPBP-Interacting Protein term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Immunodeficiency due to defect in mapbp-interacting protein
OMIM
ClinVar
PMID:17195838 PMID:25741868 NCBI chr 2:187,911,530...187,914,930
Ensembl chr 2:187,911,533...187,915,596
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      primary immunodeficiency disease 2694
        Immunodeficiency due to Defect in MAPBP-Interacting Protein 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Immune & Inflammatory Diseases 3881
        immune system disease 3249
          primary immunodeficiency disease 2694
            Immunodeficiency due to Defect in MAPBP-Interacting Protein 1
paths to the root