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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 16 OMIM
ClinVar
PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:25169651 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26371875 PMID:27281533 PMID:28292732 PMID:28428906 PMID:28492532 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      electroclinical syndrome 655
        developmental and epileptic encephalopathy 493
          developmental and epileptic encephalopathy 16 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            epilepsy 1877
              electroclinical syndrome 655
                neonatal period electroclinical syndrome 495
                  early infantile epileptic encephalopathy 486
                    developmental and epileptic encephalopathy 16 1
paths to the root