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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 2A
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Accession:DOID:0110115 term browser browse the term
Definition:An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene. (DO)
Synonyms:exact_synonym: ALPS2;   ALPS2A;   AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II;   autoimmune lymphoproliferative syndrome type IIA
 primary_id: MESH:C565833
 alt_id: OMIM:603909;   RDO:0014370


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      primary immunodeficiency disease 4153
        lymphoproliferative syndrome 1058
          autoimmune lymphoproliferative syndrome 64
            autoimmune lymphoproliferative syndrome type 2A 0
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        genetic disease 18250
          monogenic disease 10365
            autosomal genetic disease 9518
              autosomal dominant disease 6235
                autoimmune lymphoproliferative syndrome type 2A 0
paths to the root