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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 23
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Accession:DOID:0080415 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. (DO)
Synonyms:exact_synonym: DEE23;   EIEE23;   early infantile epileptic encephalopathy 23;   early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome;   epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
 primary_id: OMIM:615859
 xref: ORDO:411986
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angptl3 angiopoietin-like 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 23 ClinVar PMID:28492532 NCBI chr 5:117,698,590...117,706,729
Ensembl chr 5:117,698,764...117,705,808
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G Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 23
ClinVar Annotator: match by OMIM:615859
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24814191 PMID:25363768 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr 5:117,595,194...117,780,844
Ensembl chr 5:117,596,136...117,780,777
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    syndrome 7744
      electroclinical syndrome 690
        developmental and epileptic encephalopathy 529
          developmental and epileptic encephalopathy 23 2
Path 2
Term Annotations click to browse term
  disease 16977
    disease of anatomical entity 16343
      nervous system disease 11927
        central nervous system disease 10245
          brain disease 9612
            epilepsy 2135
              electroclinical syndrome 690
                neonatal period electroclinical syndrome 530
                  early infantile epileptic encephalopathy 521
                    developmental and epileptic encephalopathy 23 2
paths to the root