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Human disease

Property Value
dbo:description
  • human disease (en)
  • մարդու հիվանդություն (hy)
  • хвороба людини (uk)
  • מצב רפואי (iw)
dbo:diseasesDB
  • 29326
dbo:geneReviewsId
  • NBK1386
dbo:geneReviewsName
  • Congenital Contractural Arachnodactyly (en)
dbo:gradName
  • congenital-contractural-arachnodactyly
dbo:gradNum
  • 5899
dbo:icd10
  • Q87.8
dbo:meshId
  • C536211
dbo:omim
  • 121050 (xsd:integer)
dbo:orpha
  • 115
dbo:symptom
dbo:thumbnail
dbo:wikiPageWikiLink
dbp:causes
  • Mutation of FBN2 gene (en)
dbp:diseasesdb
  • 29326 (xsd:integer)
dbp:gardname
  • congenital-contractural-arachnodactyly (en)
dbp:gardnum
  • 5899 (xsd:integer)
dbp:genereviewsname
  • Congenital Contractural Arachnodactyly (en)
dbp:genereviewsnbk
  • NBK1386 (en)
dbp:icd
  • Q87.8 (en)
dbp:meshid
  • 536211.0 (dbd:nicaraguanCórdoba)
dbp:name
  • Congenital contractural arachnodactyly (en)
dbp:omim
  • 121050 (xsd:integer)
dbp:onset
  • Conception (en)
dbp:orphanet
  • 115 (xsd:integer)
dbp:prognosis
  • Life expectancy depends on severity of symptoms but typically it is not shortened (en)
dbp:symptoms
  • Tall, slender body; arm span exceeds height; long, slender fingers and toes; kyphoscoliosis; crumpled ear; joint stiffness (en)
dbp:synonyms
  • Beals syndrome; Beals–Hecht syndrome; Arachnodactyly, contractural Beals type; multiple with arachnodactyly; Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis; Distal arthrogryposis type 9 (en)
dbp:treatment
  • Physical therapy for joint contractures; bracing and/or surgical correction for kyphoscoliosis (en)
dbp:wikiPageUsesTemplate
dct:subject
gold:hypernym
rdf:type
rdfs:label
  • Congenital contractural arachnodactyly (en)
  • Kongenitale Kontrakturale Arachnodaktylie (de)
  • Syndrome de Beals (fr)
  • Sindrome di Beals (it)
  • Zespół Bealsa (pl)
  • Beals syndrom (sv)
  • 先天性攣縮細長指 (zh)
owl:sameAs
prov:wasDerivedFrom
foaf:depiction
foaf:isPrimaryTopicOf
foaf:name
  • Congenital contractural arachnodactyly (en)
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