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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:Baker-Gordon Syndrome
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Accession:DOID:9008596 term browser browse the term
Definition:A neurodevelopmental disorder characterized by infantile hypotonia, ophthalmic abnormalities, moderate to profound global developmental delay, poor or absent speech, behavioral abnormalities, hyperkinetic movements, and EEG abnormalities in the absence of overt seizures. (OMIM)
Synonyms:exact_synonym: BAGOS;   NEDIMAE;   neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram
 primary_id: OMIM:618218


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Baker-Gordon Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syt1 synaptotagmin 1 ISO ClinVar Annotator: match by term: BAKER-GORDON SYNDROME | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENT AND ABNORMAL ELECTROENCEPHALOGRAM OMIM
ClinVar		 PMID:25705886 PMID:25712080 PMID:25741868 PMID:30107533 PMID:32362337 More... NCBI chr 7:43,813,204...44,358,020
Ensembl chr 7:43,815,785...44,357,803 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Baker-Gordon Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              Neurodevelopmental Disorders 6848
                Baker-Gordon Syndrome 1
paths to the root