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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 the STAT1 gene 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


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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 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ClinVar Annotator: match by term: Candidiasis, familial, 7 | ClinVar Annotator: match by term: Immunodeficiency 31C		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:21714643 PMID:21727188 PMID:22195034 More... NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    syndrome 10334
      primary immunodeficiency disease 3853
        immunodeficiency 31C 2
Path 2
Term Annotations click to browse term
  disease 18300
    Pathological Conditions, Signs and Symptoms 12356
      Signs and Symptoms 10134
        Neurologic Manifestations 9788
          sensory system disease 6744
            skin disease 3824
              Infectious Skin Diseases 252
                dermatomycosis 98
                  chronic mucocutaneous candidiasis 57
                    immunodeficiency 31C 2
paths to the root