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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 IB
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Accession:DOID:9004779 term browser browse the term
Synonyms:exact_synonym: ALPS1B;   autoimmune lymphoproliferative syndrome, type 1B
 primary_id: MESH:C566614



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Autoimmune Lymphoproliferative Syndrome, Type IB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Faslg Fas ligand ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b ClinVar PMID:8787672 PMID:25741868 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      primary immunodeficiency disease 4141
        lymphoproliferative syndrome 1055
          autoimmune lymphoproliferative syndrome 64
            Autoimmune Lymphoproliferative Syndrome, Type IB 1
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      Immune & Inflammatory Diseases 5560
        immune system disease 4768
          Immunoproliferative Disorders 1063
            lymphoproliferative syndrome 1055
              autoimmune lymphoproliferative syndrome 64
                Autoimmune Lymphoproliferative Syndrome, Type IB 1
paths to the root