Send us a Message



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

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
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 Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENT AND ABNORMAL ELECTROENCEPHALOGRAM
ClinVar
OMIM
PMID:25705886 PMID:25712080 PMID:25741868 PMID:30107533 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 17435
    syndrome 8262
      Baker-Gordon Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            disease of mental health 7119
              Neurodevelopmental Disorders 5760
                Baker-Gordon Syndrome 1
paths to the root