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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 31B
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Accession:DOID:0070376 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: DEE31B;   developmental and epileptic encephalopathy 31B, autosomal recessive
 primary_id: MIM:620352


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developmental and epileptic encephalopathy 31B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B ClinVar PMID:34172529 NCBI chr 3:15,658,479...15,673,762
Ensembl chr 3:36,056,370...36,075,192 		JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B OMIM
ClinVar		 PMID:25741868 PMID:34172529 PMID:36553519 NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:36,002,064...36,046,289 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      electroclinical syndrome 1524
        developmental and epileptic encephalopathy 1145
          developmental and epileptic encephalopathy 31B 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            epilepsy 2950
              electroclinical syndrome 1524
                developmental and epileptic encephalopathy 1145
                  developmental and epileptic encephalopathy 31B 2
paths to the root