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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: OMIM: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 Actg1 actin, gamma 1 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      Baraitser-Winter syndrome 2
        Baraitser-Winter syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal dominant disease 6310
                complex cortical dysplasia with other brain malformations 1595
                  Malformations of Cortical Development, Group II 185
                    lissencephaly 116
                      Baraitser-Winter syndrome 2
                        Baraitser-Winter syndrome 2 1
paths to the root