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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:Short Stature, Developmental Delay, and Congenital Heart Defects
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Accession:DOID:9008862 term browser browse the term
Synonyms:exact_synonym: SDDHD;   TKT deficiency;   transketolase deficiency
 primary_id: OMIM:617044
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Short Stature, Developmental Delay, and Congenital Heart Defects term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tkt transketolase ISO ClinVar Annotator: match by term: Transketolase deficiency OMIM
ClinVar
PMID:25741868 PMID:27259054 PMID:28492532 NCBI chr16:5,723,764...5,748,702
Ensembl chr16:5,723,762...5,748,698
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      congenital heart disease 1140
        Short Stature, Developmental Delay, and Congenital Heart Defects 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
                  Short Stature, Developmental Delay, and Congenital Heart Defects 1
paths to the root