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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:Autoimmune Lymphoproliferative Syndrome, Type IA
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Accession:DOID:9005144 term browser browse the term
Synonyms:exact_synonym: ALPS1A;   Autoimmune lymphoproliferative syndrome, type 1a
 primary_id: MESH:C566613

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Autoimmune Lymphoproliferative Syndrome, Type IA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1a ClinVar PMID:4165068 PMID:4852259 PMID:7539157 PMID:7540117 PMID:8929361 More... NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9327
      primary immunodeficiency disease 3472
        lymphoproliferative syndrome 925
          autoimmune lymphoproliferative syndrome 60
            Autoimmune Lymphoproliferative Syndrome, Type IA 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Immune & Inflammatory Diseases 4634
        immune system disease 4032
          Immunoproliferative Disorders 932
            lymphoproliferative syndrome 925
              autoimmune lymphoproliferative syndrome 60
                Autoimmune Lymphoproliferative Syndrome, Type IA 1
paths to the root