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Baraitser-Winter cerebrofrontofacial syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Baraitser-Winter cerebrofrontofacial syndrome
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Accession:EFO:MONDO:0017579 term browser browse the term
Definition:Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients.
Synonyms:exact_synonym: Baraitser-winter syndrome;   DOID:0060229;   Orphanet:2995;   http://identifiers.org/medgen/340016;   http://identifiers.org/snomedct/702410002;   http://linkedlifedata.com/resource/umls/id/C1853623;   https://omim.org/phenotypicSeries/PS243310
 related_synonym: BRWS;   Fryns-Aftimos syndrome;   cerebro-frontofacial syndrome, type 3;   iris coloboma with ptosis hypertelorism and intellectual disability;   iris coloboma with ptosis hypertelorism and mental retardation;   trigonocephaly ptosis coloboma;   trigonocephaly ptosis intellectual disability;   trigonocephaly ptosis mental retardation
 alt_id: MONDO:0017579
 xref: DOID:0060229;   GARD:5279;   ICD9:759.89;   MEDGEN:340016;   MIM:PS243310;   ORDO:2995;   SCTID:702410002;   UMLS:C1853623
 see_also: https://rarediseases.info.nih.gov/diseases/5279/baraitser-winter-syndrome" xsd:anyURI {source="GARD:0005279

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            Baraitser-Winter cerebrofrontofacial syndrome 0
              Baraitser-Winter syndrome 1 0
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          disorder of development or morphogenesis 0
            developmental defect during embryogenesis 0
              multiple congenital anomalies/dysmorphic syndrome 0
                multiple congenital anomalies/dysmorphic syndrome-intellectual disability 0
                  Baraitser-Winter cerebrofrontofacial syndrome 0
                    Baraitser-Winter syndrome 1 0
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