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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;   RDO:9001368
 alt_id: RDO:9001367
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27481395 PMID:27773429 PMID:28492532 PMID:29190063 NCBI chr 5:136,669,674...136,703,702
Ensembl chr 5:136,669,674...136,703,697
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        Metabolic Brain Diseases 586
          GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 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
            Metabolic Brain Diseases 586
              Metabolic Brain Diseases, Inborn 516
                glycine encephalopathy 11
                  GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 1
paths to the root