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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:Multisystem Autoimmune Disease, Infantile-Onset, 3
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Accession:DOID:9003588 term browser browse the term
Definition:An autosomal recessive disorder of immune dysregulation characterized by the onset of various systemic autoimmune manifestations in the first months or years of life. Caused by homozygous mutation in the CBLB gene on chromosome 3q13.
Synonyms:exact_synonym: ADMIO3;   CBLB deficiency
 primary_id: OMIM:620430


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Multisystem Autoimmune Disease, Infantile-Onset, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblb Cbl proto-oncogene B ISO ClinVar Annotator: match by term: Autoimmune disease, multisystem, infantile-onset, 3 ClinVar
OMIM		 PMID:36006710 NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      immune system disease 4782
        autoimmune disease 2325
          Multisystem Autoimmune Disease, Infantile-Onset 3
            Multisystem Autoimmune Disease, Infantile-Onset, 3 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Immune & Inflammatory Diseases 5574
        immune system disease 4782
          primary immunodeficiency disease 4152
            autoimmune disease 2325
              Multisystem Autoimmune Disease, Infantile-Onset 3
                Multisystem Autoimmune Disease, Infantile-Onset, 3 1
paths to the root