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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 the MCM4 gene on chromosome 8q11.21. (DO)
Synonyms:exact_synonym: IMD54;   MCM4-RELATED CONDITION;   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


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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 term: MCM4-related condition | ClinVar Annotator: match by term: Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16532402 PMID:17576681 PMID:22354167 More... NCBI chr11:85,258,443...85,272,144
Ensembl chr11:85,258,443...85,272,144 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8247
      disease of metabolism 8247
        DNA Repair-Deficiency Disorders 1327
          immunodeficiency 54 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                immunodeficiency 54 1
paths to the root