Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, 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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
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
PMID:25705886 PMID:25712080 PMID:25741868 PMID:30107533 NCBI chr 7:50,084,063...50,638,996
Ensembl chr 7:50,084,060...50,638,798
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Baker-Gordon Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            disease of mental health 6921
              Neurodevelopmental Disorders 5563
                Baker-Gordon Syndrome 1
paths to the root