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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:0061081 term browser browse the term
Definition:A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11. (DO)
Synonyms:exact_synonym: IMD115;   immunodeficiency 115 with autoinflammation
 broad_synonym: RNF31-related condition
 alt_id: DOID:9005711
 xref: MIM:620632;   MONDO:0957981


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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 | ClinVar Annotator: match by term: RNF31-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26008899 PMID:28492532 More... NCBI chr15:33,053,450...33,065,285
Ensembl chr15:33,053,607...33,065,284 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      skin disease 4336
        Genetic Skin Diseases 1865
          Hereditary Autoinflammatory Diseases 365
            immunodeficiency 115 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              Genetic Skin Diseases 1865
                Hereditary Autoinflammatory Diseases 365
                  immunodeficiency 115 1
paths to the root