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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:developmental and epileptic encephalopathy 39
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Accession:DOID:0080349 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: AGC1 deficiency;   DEE39;   EIEE39;   aspartate-glutamate carrier 1 deficiency;   early infantile epileptic encephalopathy 39;   epileptic encephalopathy with global cerebral demyelination;   global cerebral hypomyelination;   mitochondrial aspartate-glutamate carrier 1 deficiency
 primary_id: MESH:C567847
 alt_id: OMIM:612949
 xref: ORDO:353217


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developmental and epileptic encephalopathy 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A12 solute carrier family 25 member 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39 | ClinVar Annotator: match by term: Hypomyelination, global cerebral OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19641205 PMID:24515575 PMID:25741868 More... NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,938...78,098,383 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Nutritional and Metabolic Diseases 7080
      disease of metabolism 7080
        mitochondrial metabolism disease 798
          developmental and epileptic encephalopathy 39 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        central nervous system disease 11610
          brain disease 10899
            epilepsy 2736
              electroclinical syndrome 1317
                neonatal period electroclinical syndrome 934
                  early infantile epileptic encephalopathy 913
                    developmental and epileptic encephalopathy 39 1
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