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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 29
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Accession:DOID:0080451 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22. (DO)
Synonyms:exact_synonym: DEE29;   EIEE29;   early infantile epileptic encephalopathy 29
 primary_id: OMIM:616339
For additional species annotation, visit the Alliance of Genome Resources.



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developmental and epileptic encephalopathy 29 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29 OMIM
ClinVar
PMID:25741868 PMID:25817015 PMID:28492532 PMID:28493438 PMID:29653220 More... NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    syndrome 9745
      electroclinical syndrome 979
        developmental and epileptic encephalopathy 748
          developmental and epileptic encephalopathy 29 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        central nervous system disease 11364
          brain disease 10660
            epilepsy 2649
              electroclinical syndrome 979
                neonatal period electroclinical syndrome 744
                  early infantile epileptic encephalopathy 724
                    developmental and epileptic encephalopathy 29 1
paths to the root