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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


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 chr13:35,348,921...35,377,518
Ensembl chr13:35,348,915...35,377,587 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      congenital heart disease 1321
        Short Stature, Developmental Delay, and Congenital Heart Defects 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        central nervous system disease 11612
          brain disease 10901
            disease of mental health 7881
              Neurodevelopmental Disorders 6636
                Developmental Disabilities 770
                  Short Stature, Developmental Delay, and Congenital Heart Defects 1
paths to the root