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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 112
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Accession:DOID:9001786 term browser browse the term
Definition:An autosomal recessive primary immunologic disorder with variable manifestations beginning in early childhood. Caused by homozygous mutation in the MAP3K14 gene on chromosome 17q21.
Synonyms:exact_synonym: IMD112
 primary_id: OMIM:620449



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Immunodeficiency 112 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k14 mitogen-activated protein kinase kinase kinase 14 ISO OMIM NCBI chr10:88,165,349...88,215,558
Ensembl chr10:88,165,351...88,215,523
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        Immunodeficiency 112 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Immune & Inflammatory Diseases 5566
        immune system disease 4773
          primary immunodeficiency disease 4146
            Immunodeficiency 112 1
paths to the root