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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:25741868 PMID:28492532 PMID:33586135 NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      primary immunodeficiency disease 3717
        Immunodeficiency 78 with Autoimmunity and Developmental Delay 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            disease of mental health 7449
              Neurodevelopmental Disorders 6102
                Developmental Disabilities 626
                  Immunodeficiency 78 with Autoimmunity and Developmental Delay 1
paths to the root