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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: OMIM:619220
For additional species annotation, visit the Alliance of Genome Resources.


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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:33586135 NCBI chr 9:50,664,048...50,744,803
NCBI chr 9:50,578,868...50,628,943
Ensembl chr 9:50,581,234...50,744,803
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      primary immunodeficiency disease 2694
        Immunodeficiency 78 with Autoimmunity and Developmental Delay 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            disease of mental health 7022
              Neurodevelopmental Disorders 5664
                Developmental Disabilities 525
                  Immunodeficiency 78 with Autoimmunity and Developmental Delay 1
paths to the root