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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 66
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Accession:DOID:0111998 term browser browse the term
Definition:A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2. (DO)
Synonyms:exact_synonym: IMD66
 primary_id: OMIM:618847



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immunodeficiency 66 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrtfa myocardin related transcription factor A ISO ClinVar Annotator: match by term: Immunodeficiency 66 OMIM
ClinVar
PMID:25741868 PMID:26224645 PMID:27479822 PMID:28492532 NCBI chr 7:112,544,305...112,714,418
Ensembl chr 7:112,544,312...112,714,418
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      primary immunodeficiency disease 4141
        immunodeficiency 66 1
Path 2
Term Annotations click to browse term
  disease 21121
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18299
        genetic disease 18243
          monogenic disease 10326
            autosomal genetic disease 9476
              autosomal recessive disease 6551
                immunodeficiency 66 1
paths to the root