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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: Cerebrofrontofacial syndrome
ClinVar Annotator: match by term: Baraitser-Winter syndrome
MouseDO
ClinVar
PMID:12325076 PMID:16685646 PMID:22366783 PMID:25052316 PMID:25741868 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 OMIM:243310 | OMIM:614583 MouseDO 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 OMIM:243310
ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME
OMIM
ClinVar
PMID:1415343 PMID:9536098 PMID:10327243 PMID:10411937 PMID:10928857 More... NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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 OMIM:614583
OMIM
ClinVar
PMID:3351890 PMID:18414213 PMID:22366783 PMID:24033266 PMID:25052316 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 17251
    syndrome 8148
      Baraitser-Winter syndrome 2
        Baraitser-Winter Syndrome 1 1
        Baraitser-Winter Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            autosomal genetic disease 6315
              autosomal dominant disease 4479
                complex cortical dysplasia with other brain malformations 1194
                  Malformations of Cortical Development, Group II 142
                    lissencephaly 71
                      Baraitser-Winter syndrome 2
                        Baraitser-Winter Syndrome 1 1
                        Baraitser-Winter Syndrome 2 1
paths to the root