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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 2B
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Accession:DOID:0110116 term browser browse the term
Definition:An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33. (DO)
Synonyms:exact_synonym: ALPS with recurrent viral infections;   ALPS2B;   CEDS;   Caspase 8 deficiency syndrome;   Caspase eight deficiency state;   autoimmune lymphoproliferative syndrome type 2B (ALPS2B);   autoimmune lymphoproliferative syndrome with recurrent viral infections;   autoimmune lymphoproliferative syndrome, type IIB;   caspase 8 deficiencies;   caspase 8 deficiency
 primary_id: OMIM:607271
 alt_id: RDO:9004333
 xref: ORDO:275517
For additional species annotation, visit the Alliance of Genome Resources.


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autoimmune lymphoproliferative syndrome type 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Caspase-8 deficiency
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
OMIM
PMID:12353035 PMID:15601643 PMID:15998955 PMID:17293864 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30267714 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      primary immunodeficiency disease 2364
        lymphoproliferative syndrome 677
          autoimmune lymphoproliferative syndrome 20
            autoimmune lymphoproliferative syndrome type 2B 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                autoimmune lymphoproliferative syndrome type 2B 1
paths to the root