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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 79
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Accession:DOID:0112277 term browser browse the term
Definition:A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13. (DO)
Synonyms:exact_synonym: IMD79
 broad_synonym: CD4-RELATED CONDITION
 primary_id: MIM:619238


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immunodeficiency 79 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: CD4-related condition | ClinVar Annotator: match by term: Immunodeficiency 79 OMIM
ClinVar		 PMID:1708753 PMID:1961196 PMID:7689618 PMID:25741868 PMID:28492532 More... NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:159,356,337...159,381,461 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      primary immunodeficiency disease 4502
        T cell deficiency 113
          immunodeficiency 79 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                immunodeficiency 79 1
paths to the root