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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:early infantile epileptic encephalopathy 39
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Accession:DOID:0080349 term browser browse the term
Definition:An early infantile epileptic encephalopathy 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;   developmental and 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
For additional species annotation, visit the Alliance of Genome Resources.


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early infantile 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 OMIM:612949
ClinVar Annotator: match by term: Hypomyelination, global cerebral
OMIM
ClinVar
PMID:19641205, PMID:24515575, PMID:24973975, PMID:25741868, PMID:28492532 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        mitochondrial metabolism disease 345
          early infantile epileptic encephalopathy 39 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            epilepsy 1532
              electroclinical syndrome 395
                neonatal period electroclinical syndrome 254
                  early infantile epileptic encephalopathy 245
                    early infantile epileptic encephalopathy 39 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.