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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 Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 16 ClinVar PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31465090 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
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 21120
    syndrome 10776
      electroclinical syndrome 1349
        developmental and epileptic encephalopathy 975
          developmental and epileptic encephalopathy 16 2
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
                neonatal period electroclinical syndrome 948
                  early infantile epileptic encephalopathy 928
                    developmental and epileptic encephalopathy 16 2
paths to the root