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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 16
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Accession:DOID:0080449 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: DEE16;   EIEE16;   early infantile epileptic encephalopathy 16
 primary_id: OMIM:615338
 xref: ORDO:352596


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developmental and epileptic encephalopathy 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO
ISS		 OMIM:615338
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 16 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 16		 OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:17576681 PMID:23526554 PMID:23806086 PMID:24033266 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		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 16 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
                neonatal period electroclinical syndrome 950
                  early infantile epileptic encephalopathy 929
                    developmental and epileptic encephalopathy 16 1
paths to the root