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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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autoimmune lymphoproliferative syndrome type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP10 caspase 10 IAGP
EXP		 ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2A
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2A
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:10412980 PMID:11973654 PMID:16199547 PMID:16446975 More... NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G LOC129935405 ATAC-STARR-seq lymphoblastoid active region 16981 IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2A ClinVar PMID:21382177 PMID:28492532 NCBI chr 2:201,208,985...201,209,034 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    syndrome 18145
      primary immunodeficiency disease 5026
        lymphoproliferative syndrome 1349
          autoimmune lymphoproliferative syndrome 78
            autoimmune lymphoproliferative syndrome type 2A 2
Path 2
Term Annotations click to browse term
  disease 35756
    Developmental Disease 28613
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24648
        genetic disease 23840
          monogenic disease 18586
            autosomal genetic disease 16857
              autosomal dominant disease 10968
                autoimmune lymphoproliferative syndrome type 2A 2
paths to the root