Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   RNF31-RELATED CONDITION
 primary_id: MIM:620632



show annotations for term's descendants           Sort by:
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 chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    syndrome 11372
      primary immunodeficiency disease 4432
        Immunodeficiency 115 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        Neurologic Manifestations 10450
          sensory system disease 7375
            skin disease 4319
              Genetic Skin Diseases 1889
                Hereditary Autoinflammatory Diseases 364
                  Immunodeficiency 115 1
paths to the root