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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:2786228 PMID:3445035 PMID:9536098 PMID:9714430 More... NCBI chrNW_004955460:10,358,100...10,361,585
Ensembl chrNW_004955460:10,356,699...10,361,585 		JBrowse link
G Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chrNW_004955506:1,546,678...1,549,611
Ensembl chrNW_004955506:1,546,678...1,552,105 		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 chrNW_004955460:10,997,554...11,009,435
Ensembl chrNW_004955460:10,996,796...11,009,525 		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 chrNW_004955460:10,318,089...10,349,135
Ensembl chrNW_004955460:10,322,092...10,349,225 		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 chrNW_004955460:10,402,855...10,412,459
Ensembl chrNW_004955460:10,402,855...10,412,710 		JBrowse link
G Mmd2 monocyte to macrophage differentiation associated 2 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chrNW_004955460:10,872,898...10,932,767
Ensembl chrNW_004955460:10,893,683...10,911,768 		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 chrNW_004955460:10,941,776...10,946,235
Ensembl chrNW_004955460:10,872,735...10,946,235 		JBrowse link
G Radil Rap associating with DIL domain ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chrNW_004955460:10,906,944...10,990,369
Ensembl chrNW_004955460:10,931,901...10,994,178 		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 chrNW_004955460:10,423,736...10,578,421
Ensembl chrNW_004955460:10,425,885...10,551,295 		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 chrNW_004955460:10,155,916...10,181,974
Ensembl chrNW_004955460:10,155,899...10,181,974 		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 chrNW_004955460:10,183,836...10,270,626
Ensembl chrNW_004955460:10,184,871...10,268,072 		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 chrNW_004955460:10,090,343...10,132,724
Ensembl chrNW_004955460:10,090,349...10,130,384 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    syndrome 9817
      Baraitser-Winter syndrome 12
        Baraitser-Winter syndrome 1 12
Path 2
Term Annotations click to browse term
  disease 14336
    Developmental Disease 12608
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11871
        genetic disease 11599
          monogenic disease 9961
            autosomal genetic disease 9565
              autosomal dominant disease 6244
                complex cortical dysplasia with other brain malformations 1578
                  Malformations of Cortical Development, Group II 192
                    lissencephaly 123
                      Baraitser-Winter syndrome 12
                        Baraitser-Winter syndrome 1 12
paths to the root