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ONTOLOGY REPORT - ANNOTATIONS


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
 alt_id: DOID:9007532;   DOID:9008448;   RDO:0013037;   RDO:0013950;   RDO:9004936
 xref: GARD:5279
For additional species annotation, visit the Alliance of Genome Resources.


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Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:13592920
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:13592920
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:7240710
RGD:8554872
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Baraitser-Winter syndrome 2
        Baraitser-Winter Syndrome 1 1
        Baraitser-Winter Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Baraitser-Winter syndrome 2
                      Baraitser-Winter Syndrome 1 1
                      Baraitser-Winter Syndrome 2 1
paths to the root