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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 47
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Accession:DOID:0112002 term browser browse the term
Definition:A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in ATP6AP1 on chromosome Xq28. (DO)
Synonyms:exact_synonym: CDG IIs;   CDG2S;   CDGIIs;   IMD47;   congenital disorder of glycosylation, type IIs;   immunodeficiency and hepatopathy with or without neurologic features
 primary_id: OMIM:300972
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 47 OMIM
ClinVar
PMID:25741868 PMID:27231034 PMID:29192153 PMID:29396028 PMID:32058063 PMID:32216104 NCBI chr  X:156,407,973...156,415,053
Ensembl chr  X:156,407,937...156,415,145
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      primary immunodeficiency disease 2693
        immunodeficiency 47 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          inherited metabolic disorder 2606
            carbohydrate metabolic disorder 524
              congenital disorder of glycosylation 210
                congenital disorder of glycosylation type II 100
                  immunodeficiency 47 1
paths to the root