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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 2
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Accession:DOID:0061001 term browser browse the term
Definition:A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21. (DO)
Synonyms:exact_synonym: GCE2
 alt_id: DOID:9000953
 xref: MIM:620398;   MONDO:0958192


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glycine encephalopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Glycine encephalopathy 2 OMIM
ClinVar		 PMID:3769993 PMID:4434100 PMID:8005589 PMID:9580775 PMID:9600239 More... NCBI chr 8:117,859,700...117,866,692 JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Glycine encephalopathy 2 ClinVar PMID:9621520 PMID:16450403 PMID:25741868 PMID:28492532 NCBI chr 8:117,854,210...117,860,185 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19136
    Nutritional and Metabolic Diseases 8543
      disease of metabolism 8543
        Metabolic Brain Diseases 1519
          Metabolic Brain Diseases, Inborn 1386
            glycine encephalopathy 13
              glycine encephalopathy 2 2
Path 2
Term Annotations click to browse term
  disease 19136
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        genetic disease 13377
          monogenic disease 10927
            autosomal genetic disease 10414
              autosomal recessive disease 6974
                glycine encephalopathy 13
                  glycine encephalopathy 2 2
paths to the root