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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
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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;   ICD10CM:E72.51;   NCI:C84937
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
glycine encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase susceptibility ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia
DNA:missense, deletion mutations:cds: 183delC,G955C (p.D276H)(human)
DNA:missense mutation:exon:p.H42R(human)
ClinVar Annotator: match by OMIM:605899
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:4434100 PMID:6179960 PMID:8005589 PMID:9600239 PMID:9621520 PMID:10873393 PMID:11139253 PMID:11286506 PMID:12948742 PMID:15272469 PMID:16051266 PMID:16450403 PMID:19299230 PMID:20949620 PMID:22171071 PMID:22261077 PMID:23352163 PMID:24033266 PMID:25231368 PMID:25741868 PMID:26179960 PMID:26371980 PMID:26467025 PMID:27164344 PMID:27362913 PMID:27620832 PMID:27884173 PMID:28244183 PMID:28462797 PMID:28492532 PMID:29300369 PMID:31319225, PMID:8005589, PMID:9621520, PMID:9600239 RGD:1599106, RGD:11073529, RGD:12879455 NCBI chr 8:117,068,388...117,078,633
Ensembl chr 8:117,068,582...117,077,913
JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia
ClinVar Annotator: match by OMIM:605899
OMIM
ClinVar
PMID:9536098 PMID:12402263 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr19:49,522,054...49,532,811
Ensembl chr19:49,522,054...49,532,811
JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia
DNA:deletions: :
DNA:mutation:cds: c.2607C>A(human)
ClinVar Annotator: match by OMIM:605899
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:660 PMID:445864 PMID:1634607 PMID:1996985 PMID:9536098 PMID:10798358 PMID:10873393 PMID:11286506 PMID:11592811 PMID:12126939 PMID:12402263 PMID:15192636 PMID:15236413 PMID:15272469 PMID:15670722 PMID:15791207 PMID:15824356 PMID:15851735 PMID:15864413 PMID:16404748 PMID:16450403 PMID:16601880 PMID:16802295 PMID:17361008 PMID:17576681 PMID:18581728 PMID:20691948 PMID:20933183 PMID:21411353 PMID:22171071 PMID:22633639 PMID:23349517 PMID:24033266 PMID:24123366 PMID:24407464 PMID:25231368 PMID:25326637 PMID:25525159 PMID:25741868 PMID:26179960 PMID:26467025 PMID:26539891 PMID:26749113 PMID:26947380 PMID:26969502 PMID:27362913 PMID:27535533 PMID:27617160 PMID:27799067 PMID:27884173 PMID:27896094 PMID:28116331 PMID:28244183 PMID:28302194 PMID:28468868 PMID:28492532 PMID:29153744 PMID:29205322 PMID:29232014 PMID:29239742 PMID:29988937 PMID:30609409 PMID:31028937 PMID:31319225 PMID:273629130, PMID:17361008, PMID:15851735 RGD:12904646, RGD:11062733 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
JBrowse link
G Kdm4c lysine demethylase 4C ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
JBrowse link
G Nicn1 nicolin 1 ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:8005589 PMID:9621520 PMID:16450403 PMID:19299230 PMID:23352163 PMID:25741868 PMID:26467025 PMID:27362913 PMID:27620832 PMID:28492532 NCBI chr 8:117,062,989...117,068,134
Ensembl chr 8:117,062,884...117,068,130
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Slc6a9 solute carrier family 6 member 9 ISS OMIM:605899 MouseDO NCBI chr 5:136,669,674...136,703,702
Ensembl chr 5:136,669,674...136,703,697
JBrowse link
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE term browser
Symbol Object Name Qualifiers 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
JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lias lipoic acid synthetase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
ClinVar Annotator: match by OMIM:614462
OMIM
ClinVar
PMID:2152680 PMID:9536098 PMID:17576681 PMID:22152680 PMID:24334290 PMID:25741868 PMID:26467025 PMID:27923773 PMID:28492532 NCBI chr14:44,507,217...44,524,287
Ensembl chr14:44,507,218...44,524,252
JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:44,524,419...44,527,613
Ensembl chr14:44,524,416...44,527,613
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
JBrowse link
multiple mitochondrial dysfunctions syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bola3 bolA family member 3 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:302924 PMID:11156534 PMID:21944046 PMID:22562699 PMID:24334290 PMID:25741868 PMID:28492532 NCBI chr 4:115,046,693...115,056,140
Ensembl chr 4:115,046,693...115,056,140
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          Metabolic Brain Diseases, Inborn 516
            glycine encephalopathy 11
              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 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
                  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