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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 81
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Accession:DOID:9008093 term browser browse the term
Definition:An autosomal recessive complex disorder with onset of recurrent infections, including fungal infections, in early infancy, associated with T-cell, neutrophil, and NK dysfunction. Caused by homozygous mutation in the SLP76 gene (LCP2) on chromosome 5q33. (OMIM)
Synonyms:exact_synonym: IMD81
 primary_id: MIM:619374


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Immunodeficiency 81 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h5orf58 similar to human chromosome 5 open reading frame 58 ISO ClinVar Annotator: match by term: Immunodeficiency 81 ClinVar PMID:25741868 NCBI chr10:18,690,958...18,697,224
Ensembl chr10:18,688,847...18,697,220 		JBrowse link
G Lcp2 lymphocyte cytosolic protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 81 OMIM
ClinVar		 PMID:25741868 PMID:33231617 NCBI chr10:18,642,600...18,689,562
Ensembl chr10:18,642,658...18,689,559 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    syndrome 11180
      primary immunodeficiency disease 4306
        Immunodeficiency 81 2
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      Immune & Inflammatory Diseases 5742
        immune system disease 4930
          primary immunodeficiency disease 4306
            Immunodeficiency 81 2
paths to the root