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
Accession: DOID:0060229
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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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 PMID:22366783 PMID:23756437 PMID:25052316 PMID:25255767 PMID:25741868 PMID:26583190 PMID:27862284 PMID:28487785 PMID:28492532 PMID:28849312 PMID:29788902 PMID:31970217 More...
NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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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
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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 PMID:10928857 PMID:11311002 PMID:12325076 PMID:16685646 PMID:17576681 PMID:18414213 PMID:19252504 PMID:22366783 PMID:22495914 PMID:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25255767 PMID:25741868 PMID:25979418 PMID:26297194 PMID:26467025 PMID:26583190 PMID:27862284 PMID:27866048 PMID:28487785 PMID:28492532 PMID:28849312 PMID:29220674 PMID:29788902 PMID:31970217 PMID:32860008 More...
NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:19419963 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 PMID:26467025 PMID:27240540 PMID:28000701 PMID:28492532 PMID:29196752 PMID:29357087 PMID:29620237 PMID:29671837 PMID:29986705 PMID:30143558 More...
NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all