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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
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Accession:DOID:0060229 term browser browse the term
Definition:A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. (DO)
Synonyms:exact_synonym: Fryns-Aftimos Syndrome;   cerebrofrontofacial syndrome;   cerebrooculofacial lymphatic syndrome;   mental retardation with epilepsy and characteristic facies;   pachygyria, mental retardation, epilepsy, and characteristic facies
 primary_id: MESH:C563904;   MESH:C565258
 xref: GARD:5279;   MIM:PS243310;   ORDO:2995

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Baraitser-Winter syndrome 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: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More... NCBI chrNW_004936765:667,107...670,627
Ensembl chrNW_004936765:667,053...670,672 		JBrowse link
G Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chrNW_004936594:5,170,711...5,173,251
Ensembl chrNW_004936594:5,170,711...5,173,247 		JBrowse link
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 chrNW_004936765:667,107...670,627
Ensembl chrNW_004936765:667,053...670,672 		JBrowse link
G Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chrNW_004936594:5,170,711...5,173,251
Ensembl chrNW_004936594:5,170,711...5,173,247 		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_004936765:1,112,333...1,123,244
Ensembl chrNW_004936765:1,111,882...1,123,316 		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_004936765:679,643...721,379
Ensembl chrNW_004936765:679,554...721,411 		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_004936765:609,894...619,417
Ensembl chrNW_004936765:609,861...619,456 		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_004936765:1,013,959...1,034,736
Ensembl chrNW_004936765:1,016,065...1,032,407 		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_004936765:1,061,846...1,066,002 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_004936765:1,050,471...1,104,117
Ensembl chrNW_004936765:1,051,351...1,104,618 		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 chrNW_004936765:312,474...327,089
Ensembl chrNW_004936765:315,255...326,409 		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_004936765:452,755...592,358
Ensembl chrNW_004936765:473,025...589,681 		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_004936765:854,712...868,001
Ensembl chrNW_004936765:855,667...864,900 		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_004936765:763,111...854,645
Ensembl chrNW_004936765:765,639...852,215 		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_004936765:909,118...946,788
Ensembl chrNW_004936765:907,877...946,822 		JBrowse link
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 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    syndrome 9901
      Baraitser-Winter syndrome 13
        Baraitser-Winter syndrome 1 13
        Baraitser-Winter syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14615
    Developmental Disease 12800
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12006
        genetic disease 11722
          monogenic disease 10033
            autosomal genetic disease 9621
              autosomal dominant disease 6204
                complex cortical dysplasia with other brain malformations 1592
                  Malformations of Cortical Development, Group II 199
                    lissencephaly 126
                      Baraitser-Winter syndrome 13
                        Baraitser-Winter syndrome 1 13
                        Baraitser-Winter syndrome 2 1
paths to the root