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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 78 with Autoimmunity and Developmental Delay
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Accession:DOID:9001840 term browser browse the term
Definition:An autosomal recessive systemic disorder characterized by onset of symptoms in early childhood. Caused by homozygous or compound heterozygous mutation in the TPP2 gene on chromosome 13q33. (OMIM)
Synonyms:exact_synonym: IMD78;   TPP2 deficiency
 primary_id: MIM:619220


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Immunodeficiency 78 with Autoimmunity and Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 78 with autoimmunity and developmental delay OMIM
ClinVar		 PMID:25414442 PMID:25525876 PMID:25741868 PMID:28492532 PMID:30533531 More... NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    syndrome 11271
      primary immunodeficiency disease 4310
        Immunodeficiency 78 with Autoimmunity and Developmental Delay 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            disease of mental health 8428
              Neurodevelopmental Disorders 6949
                Developmental Disabilities 780
                  Immunodeficiency 78 with Autoimmunity and Developmental Delay 1
paths to the root