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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
 primary_id: OMIM:617044;   RDO:9001232
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:617044 ClinVar
OMIM
PMID:27259054 NCBI chr16:6,609,670...6,634,608
Ensembl chr16:6,609,668...6,634,595
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      congenital heart disease 1074
        Short Stature, Developmental Delay, and Congenital Heart Defects 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              Neurodevelopmental Disorders 4657
                Developmental Disabilities 689
                  Short Stature, Developmental Delay, and Congenital Heart Defects 1
paths to the root