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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 31A
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Accession:DOID:0111945 term browser browse the term
Definition:A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in STAT1 on chromosome 2q32.2. (DO)
Synonyms:exact_synonym: IMD31A;   IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT;   MSMD due to partial STAT1 deficiency;   MSMD due to partial signal transducer and activator of transcription 1 deficiency;   Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency;   Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency;   STAT1 deficiency, autosomal dominant
 primary_id: OMIM:614892
 xref: ORDO:319595
For additional species annotation, visit the Alliance of Genome Resources.



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immunodeficiency 31A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency OMIM
ClinVar
PMID:9536098 PMID:11452125 PMID:16934001 PMID:17576681 PMID:19436109 More... NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      primary immunodeficiency disease 3820
        immunodeficiency 31A 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal dominant disease 5080
                immunodeficiency 31A 1
paths to the root