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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 31B
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Accession:DOID:0111944 term browser browse the term
Definition:A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in STAT1 on chromosome 2q32.2. (DO)
Synonyms:exact_synonym: IMD31B;   IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE;   STAT1 deficiency, autosomal recessive;   predisposition to severe viral infection due to STAT1 deficiency;   susceptibility to viral and mycobacterial infections due to STAT1 deficiency
 related_synonym: MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE
 primary_id: OMIM:613796
 xref: ORDO:391311
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 31B 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 OMIM:613796
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive
OMIM
ClinVar
PMID:12590259 PMID:16585605 PMID:20841510 PMID:21714643 PMID:21727188 PMID:22195034 PMID:22208278 PMID:22730530 PMID:22847544 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25326637 PMID:25367169 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26494717 PMID:26513235 PMID:26604104 PMID:26621323 PMID:26732859 PMID:26743090 PMID:26938784 PMID:26948078 PMID:27114460 PMID:27117246 PMID:27379765 PMID:27808400 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28622416 PMID:29111217 PMID:30030262 PMID:30131873 PMID:30442829 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease by infectious agent 1808
      viral infectious disease 1493
        immunodeficiency 31B 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                immunodeficiency 31B 1
paths to the root