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developmental and epileptic encephalopathy 31B - Ontology Report - Rat Genome Database

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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 N Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B ClinVar PMID:34172529 NCBI chrNW_004624760:6,653,710...6,672,357
Ensembl chrNW_004624760:6,654,659...6,672,237 		JBrowse link
G G CIZ1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B ClinVar PMID:34172529 NCBI chr12:9,939,984...9,961,913
Ensembl chr12:9,940,696...9,962,235 		JBrowse link
G P CIZ1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B ClinVar PMID:34172529 NCBI chr 1:268,618,972...268,642,064
Ensembl chr 1:268,617,087...268,641,893 		JBrowse link
G S Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B ClinVar PMID:34172529 NCBI chrNW_004936487:15,728,982...15,748,737 JBrowse link
G D CIZ1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B ClinVar PMID:34172529 NCBI chr 9:55,303,189...55,322,429
Ensembl chr 9:55,303,129...55,318,945 		JBrowse link
G B CIZ1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B ClinVar PMID:34172529 NCBI chr 9:99,282,821...99,325,404
Ensembl chr 9:127,956,915...127,982,449 		JBrowse link
G C Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B ClinVar PMID:34172529 NCBI chrNW_004955570:716,124...732,551
Ensembl chrNW_004955570:707,637...732,980 		JBrowse link
G R 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 3:15,658,539...15,673,762 		JBrowse link
G M Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B ClinVar PMID:34172529 NCBI chr 2:32,252,724...32,268,311
Ensembl chr 2:32,242,339...32,270,982 		JBrowse link
G H CIZ1 CDKN1A interacting zinc finger protein 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B ClinVar PMID:34172529 NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		JBrowse link
G N Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B OMIM
ClinVar		 PMID:25741868 PMID:34172529 PMID:36553519 NCBI chrNW_004624760:6,605,902...6,646,575
Ensembl chrNW_004624760:6,604,787...6,646,622 		JBrowse link
G G DNM1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B OMIM
ClinVar		 PMID:25741868 PMID:34172529 PMID:36553519 NCBI chr12:9,874,098...9,927,737
Ensembl chr12:9,878,966...9,927,744 		JBrowse link
G P DNM1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B OMIM
ClinVar		 PMID:25741868 PMID:34172529 PMID:36553519 NCBI chr 1:268,653,045...268,702,233
Ensembl chr 1:268,653,070...268,702,222 		JBrowse link
G S Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B OMIM
ClinVar		 PMID:25741868 PMID:34172529 PMID:36553519 NCBI chrNW_004936487:15,767,897...15,797,722
Ensembl chrNW_004936487:15,767,897...15,801,211 		JBrowse link
G D DNM1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B OMIM
ClinVar		 PMID:25741868 PMID:34172529 PMID:36553519 NCBI chr 9:55,252,802...55,298,244
Ensembl chr 9:55,252,347...55,298,244 		JBrowse link
G B DNM1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B OMIM
ClinVar		 PMID:25741868 PMID:34172529 PMID:36553519 NCBI chr 9:99,324,385...99,376,262
Ensembl chr 9:128,004,508...128,044,690 		JBrowse link
G C Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B OMIM
ClinVar		 PMID:25741868 PMID:34172529 PMID:36553519 NCBI chrNW_004955570:752,335...781,770
Ensembl chrNW_004955570:752,335...781,770 		JBrowse link
G R Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B OMIM
ClinVar		 PMID:25741868 PMID:34172529 PMID:36553519 NCBI chr 3:36,002,535...36,055,220
Ensembl chr 3:15,604,784...15,648,538 		JBrowse link
G M Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B OMIM
ClinVar		 PMID:25741868 PMID:34172529 PMID:36553519 NCBI chr 2:32,198,483...32,243,361
Ensembl chr 2:32,198,483...32,243,350 		JBrowse link
G H DNM1 dynamin 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B OMIM
ClinVar		 PMID:25741868 PMID:34172529 PMID:36553519 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G H LOC113839516 H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:130980103-130981059 and GRCh37_chr9:130981060-130982015 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B ClinVar PMID:36553519 NCBI chr 9:128,217,824...128,219,736 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      electroclinical syndrome 15195
        developmental and epileptic encephalopathy 11349
          developmental and epileptic encephalopathy 31B 21
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            epilepsy 29636
              electroclinical syndrome 15195
                developmental and epileptic encephalopathy 11349
                  developmental and epileptic encephalopathy 31B 21
paths to the root