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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 42
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Accession:DOID:0111940 term browser browse the term
Definition:A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in RORC on chromosome 1q21.3. (DO)
Synonyms:exact_synonym: IMD42;   autosomal recessive MSMD due to complete RORgamma receptor defiency;   autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency;   autosomal recessive primary immunodeficiency due to RORC mutation
 primary_id: OMIM:616622
 xref: ORDO:477857
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
immunodeficiency 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rorc RAR-related orphan receptor C ISO ClinVar Annotator: match by term: Immunodeficiency 42 ClinVar
OMIM
PMID:26160376, PMID:28492532 NCBI chr 2:195,612,471...195,636,797
Ensembl chr 2:195,617,021...195,637,630
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      primary immunodeficiency disease 2344
        immunodeficiency 42 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 42 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.