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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 111
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Accession:DOID:9004554 term browser browse the term
Definition:An autosomal recessive severe neurologic disorder characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech. Caused by homozygous mutation in the DEPDC5 gene on chromosome 22q12.
Synonyms:exact_synonym: DEE111
 broad_synonym: DEPDC5-RELATED CONDITION
 primary_id: OMIM:620504



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Developmental and Epileptic Encephalopathy 111 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: DEPDC5-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 111 OMIM
ClinVar
PMID:23542697 PMID:23542701 PMID:24283814 PMID:25741868 PMID:26467025 More... NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    syndrome 10776
      electroclinical syndrome 1349
        developmental and epileptic encephalopathy 975
          Developmental and Epileptic Encephalopathy 111 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        central nervous system disease 12366
          brain disease 11603
            epilepsy 2796
              electroclinical syndrome 1349
                developmental and epileptic encephalopathy 975
                  Developmental and Epileptic Encephalopathy 111 1
paths to the root