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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 1
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Accession:DOID:0081112 term browser browse the term
Definition:A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome. (DO)
Synonyms:exact_synonym: BRWS1;   COFLS;   cerebrooculofacial lymphatic syndrome;   iris coloboma with ptosis, hypertelorism, and mental retardation
 broad_synonym: ACTB-RELATED BAFOPATHY
 primary_id: MESH:C565462
 alt_id: DOID:9004677;   MIM:243310


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Baraitser-Winter syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta ISO ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation OMIM
ClinVar		 PMID:1415343 PMID:3445035 PMID:9536098 PMID:9714430 PMID:10327243 More... NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845 		JBrowse link
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328 		JBrowse link
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,847,699...12,858,769
Ensembl chr 6:12,847,713...12,858,681 		JBrowse link
G FBXL18 F-box and leucine rich repeat protein 18 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,434,983...12,479,702
Ensembl chr 6:12,435,115...12,475,292 		JBrowse link
G FSCN1 fascin actin-bundling protein 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,360,849...12,370,906
Ensembl chr 6:12,354,599...12,370,808 		JBrowse link
G LOC479761 monocyte to macrophage differentiation factor 2 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,718,243...12,845,186
Ensembl chr 6:12,717,693...12,845,196 		JBrowse link
G PAPOLB poly(A) polymerase beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,792,167...12,795,557 JBrowse link
G RBAK RB associated KRAB zinc finger ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,072,465...12,097,422
Ensembl chr 6:12,073,368...12,093,811 		JBrowse link
G RNF216 ring finger protein 216 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,185,870...12,347,461
Ensembl chr 6:12,185,846...12,361,869 		JBrowse link
G SLC29A4 solute carrier family 29 member 4 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,607,708...12,634,572
Ensembl chr 6:12,608,713...12,622,478 		JBrowse link
G TNRC18 trinucleotide repeat containing 18 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,520,979...12,606,489
Ensembl chr 6:12,520,770...12,605,859 		JBrowse link
G WIPI2 WD repeat domain, phosphoinositide interacting 2 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,656,469...12,698,623
Ensembl chr 6:12,658,239...12,698,734 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15721
    syndrome 10494
      Baraitser-Winter syndrome 12
        Baraitser-Winter syndrome 1 12
Path 2
Term Annotations click to browse term
  disease 15721
    Developmental Disease 13694
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12736
        genetic disease 12430
          monogenic disease 10585
            autosomal genetic disease 10117
              autosomal dominant disease 6545
                complex cortical dysplasia with other brain malformations 1631
                  Malformations of Cortical Development, Group II 204
                    lissencephaly 128
                      Baraitser-Winter syndrome 12
                        Baraitser-Winter syndrome 1 12
paths to the root