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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, Brachydactyly, Intellectual Developmental Disability, and Seizures
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Accession:DOID:9002745 term browser browse the term
Synonyms:exact_synonym: SBIDDS
 primary_id: OMIM:617157
For additional species annotation, visit the Alliance of Genome Resources.


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Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures
ClinVar
OMIM
PMID:25741868, PMID:26437029, PMID:27718516, PMID:28492532 NCBI chr19:38,189,605...38,237,155
Ensembl chr19:38,189,605...38,237,308
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.