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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 54
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Accession:DOID:0111967 term browser browse the term
Definition:An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in MCM4 on chromosome 8q11.21. (DO)
Synonyms:exact_synonym: IMD54;   NKCD;   NKGCD;   Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect;   familial isolated natural killer cell deficiency;   primary immunodeficiency due to MCM4 deficiency;   primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
 primary_id: MESH:C566492;   OMIM:609981
 xref: NCI:C123729;   ORDO:75391
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 54 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm4 minichromosome maintenance complex component 4 ISO ClinVar Annotator: match by OMIM:609981
ClinVar Annotator: match by term: Natural killer cell and glucocorticoid deficiency with DNA repair defect
OMIM
ClinVar
PMID:16532402, PMID:22354167, PMID:22354170, PMID:22499342, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr11:89,511,191...89,524,892
Ensembl chr11:89,511,191...89,524,892
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        DNA Repair-Deficiency Disorders 258
          immunodeficiency 54 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                immunodeficiency 54 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.