About: Joubert syndrome

An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones

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dbo:alias
  • CPD IV (en)
dbo:description
  • مرض من الأمراض (ar)
  • Krankheit (de)
  • хвороба (uk)
  • ritka genetikai rendellenesség (hu)
  • rzadki zespół wad genetycznych (pl)
  • syndrome commençant en période néonatale (fr)
  • rara malattia genetica che interessa il cervelletto, area del cervello deputata al controllo di equilibrio e coordinazione. (it)
  • Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones (en)
dbo:diseasesDB
  • 30688
dbo:geneReviewsId
  • NBK1325
dbo:geneReviewsName
  • Joubert Syndrome and Related Disorders (en)
dbo:icd10
  • Q04.3
dbo:icd9
  • 742.2
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  • 213300 (xsd:integer)
dbo:orpha
  • 475
dbo:thumbnail
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dbo:wikiPageWikiLink
dbp:caption
  • Photo of the person with Joubert syndrome, with hypertelorism, ptosis, arched eyebrows, and a broad forehead. Also, Duane syndrome can be seen. (en)
dbp:date
  • 2008-09-06 (xsd:date)
  • 2016-07-04 (xsd:date)
dbp:differential
  • Dandy–Walker malformation, ataxia with oculomotor apraxia, 3C syndrome, Meckel–Gruber syndrome (en)
dbp:diseasesdb
  • 30688 (xsd:integer)
dbp:frequency
  • Between 1:80,000 and 1:100,000 (en)
dbp:genereviewsname
  • Joubert Syndrome and Related Disorders (en)
dbp:genereviewsnbk
  • NBK1325 (en)
dbp:icd
  • 742.200000 (xsd:double)
  • (en)
  • Q04.3 (en)
dbp:mesh
  • 536293.0 (dbd:nicaraguanCórdoba)
dbp:omim
  • 213300 (xsd:integer)
dbp:orphanet
  • 475 (xsd:integer)
dbp:synonyms
  • CPD IV (en)
dbp:url
dbp:wikiPageUsesTemplate
dbp:wordnet_type
dct:subject
gold:hypernym
rdf:type
rdfs:label
  • Joubert syndrome (en)
  • Síndrome de Joubert (ca)
  • متلازمة جيوبرت (ar)
  • Joubert-Syndrom (de)
  • Síndrome de Joubert (es)
  • Syndrome de Joubert (fr)
  • Sindrome di Joubert (it)
  • ジュベール症候群 (ja)
  • Zespół Joubert (pl)
  • 茹贝尔综合征 (zh)
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foaf:depiction
foaf:isPrimaryTopicOf
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