About: oculopharyngeal muscular dystrophy     Goto   Sponge   NotDistinct   Permalink

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Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness

AttributesValues
rdf:type
owl:sameAs
description
  • Krankheit (de)
  • مرض يصيب الإنسان (ar)
  • хвороба (uk)
  • onemocnění svalů (cs)
  • maladie génétique se manifestant après 45 ans par un abaissement de la paupière supérieure ou ptosis et par des troubles de la déglutition (fr)
  • disturbo autosmico a carattere dominante, una malattia genetica che riguarda la vista. Non deve essere confusa con una malattia simile, la distrofia oculare (it)
  • Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness (en)
  • צורה נדירה של ניוון שרירים (he)
exact match
exact match
health specialty
Mondo ID
DiseasesDB
Disease Ontology ID
symptoms and signs
Mondo ID
Disease Ontology ID
health specialty
Mondo ID
  • MONDO_0008116
DiseasesDB
  • 29869
Disease Ontology ID
  • DOID:11719
symptoms and signs
rdfs:label
  • Okulopharyngeale Muskeldystrophie (de)
  • distrofia muscular oculofaríngea (es)
  • distrofia oculofaringea (it)
  • dystrophie musculaire oculo-pharyngée (fr)
  • oculopharyngeal muscular dystrophy (en)
  • okulofaryngeal muskeldystrofi (nn)
  • okulofaryngeální muskulární dystrofie (cs)
  • ניוון שרירים אוקולופרינגיאלי (he)
  • حثل عضلي عيني بلعومي (ar)
  • 眼咽肌营养不良 (zh)
  • 眼咽肌营养不良 (zh-cn)
  • 眼咽肌营养不良 (zh-hans)
  • 眼咽頭型筋ジストロフィー (ja)
  • 眼嚥肌營養不良 (zh-hant)
skos:prefLabel
  • Okulopharyngeale Muskeldystrophie (de)
  • distrofia muscular oculofaríngea (es)
  • distrofia oculofaringea (it)
  • dystrophie musculaire oculo-pharyngée (fr)
  • oculopharyngeal muscular dystrophy (en)
  • okulofaryngeal muskeldystrofi (nn)
  • okulofaryngeální muskulární dystrofie (cs)
  • ניוון שרירים אוקולופרינגיאלי (he)
  • حثل عضلي عيني بلعومي (ar)
  • 眼咽肌营养不良 (zh)
  • 眼咽肌营养不良 (zh-cn)
  • 眼咽肌营养不良 (zh-hans)
  • 眼咽頭型筋ジストロフィー (ja)
  • 眼嚥肌營養不良 (zh-hant)
name
  • Okulopharyngeale Muskeldystrophie (de)
  • distrofia muscular oculofaríngea (es)
  • distrofia oculofaringea (it)
  • dystrophie musculaire oculo-pharyngée (fr)
  • oculopharyngeal muscular dystrophy (en)
  • okulofaryngeal muskeldystrofi (nn)
  • okulofaryngeální muskulární dystrofie (cs)
  • ניוון שרירים אוקולופרינגיאלי (he)
  • حثل عضلي عيني بلعومي (ar)
  • 眼咽肌营养不良 (zh)
  • 眼咽肌营养不良 (zh-cn)
  • 眼咽肌营养不良 (zh-hans)
  • 眼咽頭型筋ジストロフィー (ja)
  • 眼嚥肌營養不良 (zh-hant)
instance of
instance of
subclass of
subclass of
Encyclopædia Britannica Online ID
Encyclopædia Britannica Online ID
  • science/oculopharyngeal-muscular-dystrophy
KEGG ID
has cause
KEGG ID
KEGG ID
  • H00704
has cause
UniProt disease ID
prevalence
Orphanet ID
genetic association
ICD-10-CM
PatientsLikeMe condition ID
GARD rare disease ID
OMIM ID
GeneReviews ID
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