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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 31C
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Accession:DOID:0111946 term browser browse the term
Definition:A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in STAT1 on chromosome 2q32.2. (DO)
Synonyms:exact_synonym: CANDF7;   IMD31C;   autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome;   autosomal dominant immunodeficiency 31C;   familial candidiasis 7
 broad_synonym: familial chronic mucocutaneous candidiasis, autosomal dominant
 primary_id: OMIM:614162
 xref: NCI:C172099;   ORDO:391487
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
immunodeficiency 31C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il21r interleukin 21 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 31C ClinVar PMID:25741868 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome OMIM
ClinVar		 PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 More... NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    syndrome 10788
      primary immunodeficiency disease 4504
        immunodeficiency 31C 2
Path 2
Term Annotations click to browse term
  disease 20988
    Pathological Conditions, Signs and Symptoms 13308
      Signs and Symptoms 10864
        Neurologic Manifestations 10112
          sensory system disease 7132
            skin disease 4324
              Infectious Skin Diseases 432
                dermatomycosis 126
                  chronic mucocutaneous candidiasis 86
                    immunodeficiency 31C 2
paths to the root