ONTOLOGY REPORT - ANNOTATIONS


Term:glycine encephalopathy
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Accession:DOID:9268 term browser browse the term
Definition:An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.
Synonyms:exact_synonym: GCE;   Glycine Encephalopathies;   Hyperglycinemia, Nonketotic;   Non ketotic Hyperglycinemia;   Non-ketotic Hyperglycinemias;   Nonketotic Hyperglycinemias;   Type I Nonketotic Hyperglycinemia;   Type II Nonketotic Hyperglycinemia;   Type III Nonketotic Hyperglycinemia
 narrow_synonym: NKH HYPERGLYCINEMIA, TRANSIENT NEONATAL;   TNH
 primary_id: MESH:D020158;   RDO:0002539
 alt_id: OMIM:605899
 xref: GARD:7219
For additional species annotation, visit the Alliance of Genome Resources.


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glycine encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amt aminomethyltransferase JBrowse link 8 117,068,388 117,078,633 RGD:1599106
RGD:8554872
RGD:11073529
RGD:12879455
RGD:11554173
RGD:7240710
G Gcsh glycine cleavage system protein H JBrowse link 19 49,522,054 49,532,811 RGD:7240710
RGD:8554872
G Gldc glycine decarboxylase JBrowse link 1 248,295,140 248,377,122 RGD:7240710
RGD:8554872
RGD:12904646
RGD:11062733
RGD:11554173
G Kdm4c lysine demethylase 4C JBrowse link 5 90,800,139 91,012,662 RGD:8554872
G Nicn1 nicolin 1 JBrowse link 8 117,062,989 117,068,134 RGD:8554872
G Slc6a9 solute carrier family 6 member 9 JBrowse link 5 136,669,674 136,703,702 RGD:13592920
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
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lias lipoic acid synthetase JBrowse link 14 44,507,217 44,524,287 RGD:7240710
RGD:8554872
G Rpl9 ribosomal protein L9 JBrowse link 14 44,524,419 44,527,613 RGD:8554872
G Ugdh UDP-glucose 6-dehydrogenase JBrowse link 14 44,479,614 44,502,845 RGD:8554872
multiple mitochondrial dysfunctions syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bola3 bolA family member 3 JBrowse link 4 115,046,693 115,056,140 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          Metabolic Brain Diseases, Inborn 385
            glycine encephalopathy 10
              GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 1
              Hyperglycinemia, Lactic Acidosis, and Seizures 3
              Hyperglycinemia, Transient Neonatal 0
              Non Ketotic Hyperglycinemia Syndrome 0
              multiple mitochondrial dysfunctions syndrome 2 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
                  Hyperglycinemia, Lactic Acidosis, and Seizures 3
                  Hyperglycinemia, Transient Neonatal 0
                  Non Ketotic Hyperglycinemia Syndrome 0
                  multiple mitochondrial dysfunctions syndrome 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.