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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:GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
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Accession:DOID:9007710 term browser browse the term
Definition:A severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. (OMIM)
Synonyms:primary_id: OMIM:617301



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GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Glycine encephalopathy with normal serum glycine
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23265383 PMID:25741868 More... NCBI chr 5:131,374,562...131,408,733
Ensembl chr 5:131,374,542...131,408,728
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Nutritional and Metabolic Diseases 8231
      disease of metabolism 8231
        inherited metabolic disorder 6208
          Metabolic Brain Diseases, Inborn 1323
            glycine encephalopathy 36
              GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 1
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          brain disease 11623
            Metabolic Brain Diseases 1455
              Metabolic Brain Diseases, Inborn 1323
                glycine encephalopathy 36
                  GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 1
paths to the root