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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:Immunodeficiency 98 with Autoinflammation, X-Linked
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Accession:DOID:9004058 term browser browse the term
Definition:Characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Caused by hemizygous mutation in the TLR8 gene on chromosome Xp22.
Synonyms:exact_synonym: IMD98;   INFLTR8;   inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8
 primary_id: OMIM:301078



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Immunodeficiency 98 with Autoinflammation, X-Linked 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: Immunodeficiency 98 with autoinflammation, X-linked ClinVar PMID:28492532 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G Tlr8 toll-like receptor 8 ISO ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33512449 PMID:34981838 NCBI chr  X:27,091,780...27,116,092
Ensembl chr  X:27,091,778...27,116,549
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        Immunodeficiency 98 with Autoinflammation, X-Linked 2
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Genetic Skin Diseases 1850
                Hereditary Autoinflammatory Diseases 344
                  Immunodeficiency 98 with Autoinflammation, X-Linked 2
paths to the root