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Baraitser-Winter syndrome 2 - 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:Baraitser-Winter syndrome 2
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Accession:DOID:0081113 term browser browse the term
Definition:A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: BRWS2
 broad_synonym: ACTG1-RELATED CONDITION;   ACTG1-RELATED DISORDER
 primary_id: MIM:614583
 alt_id: DOID:9000005

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Baraitser-Winter syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chrNW_004624801:10,496,876...10,499,737
Ensembl chrNW_004624801:10,496,718...10,499,637 		JBrowse link
G G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr16:73,456,907...73,459,777 JBrowse link
G P ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217 		JBrowse link
G S Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chrNW_004936594:5,170,711...5,173,251
Ensembl chrNW_004936594:5,170,711...5,173,247 		JBrowse link
G D ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328 		JBrowse link
G B ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087 		JBrowse link
G C Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chrNW_004955506:1,546,678...1,549,611
Ensembl chrNW_004955506:1,546,678...1,552,105 		JBrowse link
G R Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr10:106,118,106...106,120,951
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		JBrowse link
G M Actg1 actin, gamma, cytoplasmic 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368 		JBrowse link
G H ACTG1 actin gamma 1 IAGP ClinVar Annotator: match by term: Baraitser-winter syndrome 2
ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2
ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-winter syndrome 2		 ClinVar
OMIM		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G H LOC130061940 ATAC-STARR-seq lymphoblastoid active region 12964 IAGP ClinVar Annotator: match by term: Baraitser-winter syndrome 2
ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-winter syndrome 2
ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2		 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29357087 More... NCBI chr17:81,512,245...81,512,334 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      Baraitser-Winter syndrome 129
        Baraitser-Winter syndrome 2 11
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal dominant disease 157513
                complex cortical dysplasia with other brain malformations 16799
                  Malformations of Cortical Development, Group II 2086
                    lissencephaly 1323
                      Baraitser-Winter syndrome 129
                        Baraitser-Winter syndrome 2 11
paths to the root