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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 PMID:34244600 NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      bone development disease 1425
        Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 1
paths to the root