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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;   OMIM:PS243310
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISS
ISO		 OMIM:243310 | OMIM:614583
ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome		 MouseDO
ClinVar		 PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More... NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877 		JBrowse link
G Actg1 actin, gamma 1 ISS
ISO		 OMIM:243310 | OMIM:614583
ClinVar Annotator: match by term: Baraitser-Winter syndrome		 MouseDO
ClinVar		 PMID:31231230 PMID:32028042 NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 		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: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation OMIM
ClinVar		 PMID:1415343 PMID:9536098 PMID:9714430 PMID:10327243 PMID:10411937 More... NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877 		JBrowse link
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 		JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511 		JBrowse link
G Fbxl18 F-box and leucine-rich repeat protein 18 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 NCBI chr12:11,674,538...11,701,317
Ensembl chr12:11,676,115...11,699,181 		JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211 		JBrowse link
G Mmd2 monocyte to macrophage differentiation-associated 2 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 NCBI chr12:11,962,733...12,009,776
Ensembl chr12:11,962,757...12,009,773 		JBrowse link
G Papolb poly(A) polymerase beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 NCBI chr12:12,044,275...12,046,621
Ensembl chr12:12,044,480...12,046,656 		JBrowse link
G Radil Rap associating with DIL domain ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 NCBI chr12:12,024,395...12,088,540
Ensembl chr12:12,024,395...12,088,540 		JBrowse link
G Rbak RB-associated KRAB zinc finger ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 NCBI chr12:11,375,314...11,388,937
Ensembl chr12:11,375,318...11,388,934 		JBrowse link
G Rnf216 ring finger protein 216 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 NCBI chr12:11,454,752...11,576,305
Ensembl chr12:11,454,797...11,576,304 		JBrowse link
G Slc29a4 solute carrier family 29 member 4 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 NCBI chr12:11,853,540...11,884,660
Ensembl chr12:11,853,540...11,874,834 		JBrowse link
G Tnrc18 trinucleotide repeat containing 18 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 NCBI chr12:11,755,392...11,851,721
Ensembl chr12:11,755,392...11,851,384 		JBrowse link
G Wipi2 WD repeat domain, phosphoinositide interacting 2 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:22495914 PMID:26297194 PMID:27866048 PMID:28492532 NCBI chr12:11,911,369...11,939,799
Ensembl chr12:11,911,337...11,939,794 		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: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:14684684 PMID:17576681 PMID:18414213 More... NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Baraitser-Winter syndrome 13
        Baraitser-Winter Syndrome 1 13
        Baraitser-Winter Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                complex cortical dysplasia with other brain malformations 1421
                  Malformations of Cortical Development, Group II 146
                    lissencephaly 115
                      Baraitser-Winter syndrome 13
                        Baraitser-Winter Syndrome 1 13
                        Baraitser-Winter Syndrome 2 1
paths to the root