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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 115
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Accession:DOID:9005711 term browser browse the term
Definition:An autosomal recessive disorder characterized by the onset of symptoms of immune dysregulation in early infancy. Caused by homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11.
Synonyms:exact_synonym: IMD115;   Immunodeficiency 115 with autoinflammation
 primary_id: OMIM:620632



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Immunodeficiency 115 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 115 with autoinflammation OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30936877 NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      primary immunodeficiency disease 4141
        Immunodeficiency 115 1
Path 2
Term Annotations click to browse term
  disease 21121
    Pathological Conditions, Signs and Symptoms 13300
      Signs and Symptoms 10786
        Neurologic Manifestations 10019
          sensory system disease 6932
            skin disease 3950
              Genetic Skin Diseases 1846
                Hereditary Autoinflammatory Diseases 344
                  Immunodeficiency 115 1
paths to the root