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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:exact_synonym: LAMTOR2-RELATED CONDITION
 primary_id: MESH:C563663
 alt_id: MIM:610798


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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 term: Immunodeficiency due to defect in mapbp-interacting protein | ClinVar Annotator: match by term: LAMTOR2-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:17195838 PMID:22968171 PMID:25741868 PMID:28492532 NCBI chr 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    syndrome 11406
      primary immunodeficiency disease 4483
        Immunodeficiency due to Defect in MAPBP-Interacting Protein 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      Immune & Inflammatory Diseases 5759
        immune system disease 5077
          primary immunodeficiency disease 4483
            Immunodeficiency due to Defect in MAPBP-Interacting Protein 1
paths to the root