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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: MIM:617157


show annotations for term's descendants           Sort by:
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 OMIM
ClinVar		 PMID:2643702 PMID:16199547 PMID:25741868 PMID:26437029 PMID:27718516 More... NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    Developmental Disease 14522
      bone development disease 2370
        Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 1
Path 2
Term Annotations click to browse term
  disease 19051
    Pathological Conditions, Signs and Symptoms 13531
      Signs and Symptoms 11088
        Neurologic Manifestations 10339
          sensory system disease 7253
            eye disease 3732
              visual pathway disease 342
                visual cortex disease 339
                  visual epilepsy 339
                    Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 1
paths to the root