ONTOLOGY REPORT - ANNOTATIONS


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
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GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a9 solute carrier family 6 member 9 JBrowse link 5 136,669,674 136,703,702 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        Metabolic Brain Diseases 441
          GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                glycine encephalopathy 10
                  GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.