About: centronuclear myopathy     Goto   Sponge   NotDistinct   Permalink

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myopathy characterized by abnormally located nuclei in skeletal muscle cells

AttributesValues
rdf:type
owl:sameAs
description
  • myopathy characterized by abnormally located nuclei in skeletal muscle cells (en)
  • myopathie caractérisée par des noyaux anormalement situés dans les cellules musculaires squelettiques (fr)
exact match
exact match
health specialty
Mondo ID
DiseasesDB
Disease Ontology ID
Mondo ID
Disease Ontology ID
health specialty
Mondo ID
  • MONDO_0018947
DiseasesDB
  • 31983
Disease Ontology ID
  • DOID:14717
rdfs:label
  • Miotubulska miopatija (bs)
  • centronuclear myopathy (en)
  • miopatía centronuclear (es)
  • miotubulna miopatija (sl)
  • myopathie centronucléaire (fr)
  • myotubulaire myopathie (nl)
  • myotubuläre Myopathie (de)
  • Миотубуларна миопатија (sr)
  • العضال مركزي النواة (ar)
skos:prefLabel
  • Miotubulska miopatija (bs)
  • centronuclear myopathy (en)
  • miopatía centronuclear (es)
  • miotubulna miopatija (sl)
  • myopathie centronucléaire (fr)
  • myotubulaire myopathie (nl)
  • myotubuläre Myopathie (de)
  • Миотубуларна миопатија (sr)
  • العضال مركزي النواة (ar)
name
  • Miotubulska miopatija (bs)
  • centronuclear myopathy (en)
  • miopatía centronuclear (es)
  • miotubulna miopatija (sl)
  • myopathie centronucléaire (fr)
  • myotubulaire myopathie (nl)
  • myotubuläre Myopathie (de)
  • Миотубуларна миопатија (sr)
  • العضال مركزي النواة (ar)
Freebase ID
Freebase ID
  • /m/0cx6xn
instance of
instance of
subclass of
subclass of
eMedicine ID
eMedicine ID
  • 1175852
KEGG ID
KEGG ID
KEGG ID
  • H00700
Orphanet ID
genetic association
ICD-10-CM
PatientsLikeMe condition ID
GARD rare disease ID
OMIM ID
GeneReviews ID
Genetics Home Reference Conditions ID
Orphanet ID
  • 69189
  • 595
  • 69186
  • 596
genetic association
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