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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: Epileptic encephalopathy, early infantile, 35 OMIM
ClinVar
PMID:25741868 PMID:26224535 PMID:28492532 PMID:30856165 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      electroclinical syndrome 655
        developmental and epileptic encephalopathy 494
          developmental and epileptic encephalopathy 35 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        central nervous system disease 10202
          brain disease 9574
            epilepsy 1879
              electroclinical syndrome 655
                neonatal period electroclinical syndrome 495
                  early infantile epileptic encephalopathy 486
                    developmental and epileptic encephalopathy 35 1
paths to the root