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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 chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      primary immunodeficiency disease 3701
        lymphoproliferative syndrome 980
          autoimmune lymphoproliferative syndrome 62
            Autoimmune Lymphoproliferative Syndrome, Type IB 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      Immune & Inflammatory Diseases 4952
        immune system disease 4289
          Immunoproliferative Disorders 989
            lymphoproliferative syndrome 980
              autoimmune lymphoproliferative syndrome 62
                Autoimmune Lymphoproliferative Syndrome, Type IB 1
paths to the root