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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 75
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Accession:DOID:0112211 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3. (DO)
Synonyms:exact_synonym: DEE75;   EIEE75;   PARS2-RELATED CONDITION;   early infantile epileptic encephalopathy 75
 primary_id: MIM:618437


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developmental and epileptic encephalopathy 75 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pars2 prolyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 75 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75 OMIM
ClinVar		 PMID:22237560 PMID:25629079 PMID:25705216 PMID:25741868 PMID:27290639 More... NCBI chr 5:121,433,993...121,439,158
Ensembl chr 5:126,657,700...126,676,455 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      electroclinical syndrome 1524
        developmental and epileptic encephalopathy 1145
          developmental and epileptic encephalopathy 75 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            epilepsy 2950
              electroclinical syndrome 1524
                neonatal period electroclinical syndrome 843
                  early infantile epileptic encephalopathy 820
                    developmental and epileptic encephalopathy 75 1
paths to the root