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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 88
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Accession:DOID:0112222 term browser browse the term
Definition:A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15. (DO)
Synonyms:exact_synonym: DEE88;   EIEE88;   early infantile epileptic encephalopathy 88
 primary_id: OMIM:618959


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developmental and epileptic encephalopathy 88 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MDH1 malate dehydrogenase 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 88 ClinVar
OMIM		 PMID:31538237 NCBI chr 2:63,588,963...63,607,197
Ensembl chr 2:63,588,609...63,607,197 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 88 ClinVar PMID:31538237 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    syndrome 18145
      electroclinical syndrome 1766
        developmental and epileptic encephalopathy 1321
          developmental and epileptic encephalopathy 88 2
Path 2
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      nervous system disease 26373
        central nervous system disease 23608
          brain disease 22047
            epilepsy 3694
              electroclinical syndrome 1766
                neonatal period electroclinical syndrome 1282
                  early infantile epileptic encephalopathy 1257
                    developmental and epileptic encephalopathy 88 2
paths to the root