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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:28161409, PMID:28258222, PMID:28427548, PMID:28492532, PMID:28597685, PMID:29111217, PMID:30030262, PMID:30131873 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 16023
    disease by infectious agent 1774
      viral infectious disease 1466
        immunodeficiency 31B 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                immunodeficiency 31B 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.