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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 35
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Accession:DOID:0080458 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. (DO)
Synonyms:exact_synonym: DEE35;   EIEE35;   ITPA-related encephalopathy;   early infantile epileptic encephalopathy 35
 primary_id: OMIM:616647
 xref: ORDO:457375
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 35 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 35 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 35 OMIM
ClinVar		 PMID:12384777 PMID:20173735 PMID:20547162 PMID:21274861 PMID:22992668 More... NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      electroclinical syndrome 925
        developmental and epileptic encephalopathy 738
          developmental and epileptic encephalopathy 35 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            epilepsy 2588
              electroclinical syndrome 925
                neonatal period electroclinical syndrome 737
                  early infantile epileptic encephalopathy 717
                    developmental and epileptic encephalopathy 35 1
paths to the root