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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 105
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Accession:DOID:0070391 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: DEE105;   Developmental and Epileptic Encephalopathy 105 with Hypopituitarism;   early infantile epileptic encephalopathy 105
 primary_id: OMIM:619983
 alt_id: DOID:9002700


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developmental and epileptic encephalopathy 105 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hid1 HID1 domain containing ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 105 with hypopituitarism OMIM
ClinVar		 PMID:28600779 PMID:33999436 NCBI chr10:100,589,555...100,610,050
Ensembl chr10:100,589,555...100,610,041 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      electroclinical syndrome 1351
        developmental and epileptic encephalopathy 976
          developmental and epileptic encephalopathy 105 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            epilepsy 2802
              electroclinical syndrome 1351
                developmental and epileptic encephalopathy 976
                  developmental and epileptic encephalopathy 105 1
paths to the root