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Myopathies, Structural, Congenital

Go to external page http://purl.bioontology.org/ontology/MESH/D020914

A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.

Term info

Label

Myopathies, Structural, Congenital

Synonyms
  • Aggregate Myopathies, Tubular
  • Aggregate Myopathy, Tubular
  • Autosomal Dominant Myotubular Myopathy
  • Autosomal Recessive Centronuclear Myopathy
  • CFTDM
  • Centronuclear Myopathies
  • Centronuclear Myopathies, X-Linked
  • Centronuclear Myopathy
  • Centronuclear Myopathy, X-Linked
  • Congenital Fiber Type Disproportion
  • Congenital Fiber-Type Disproportion
  • Congenital Fiber-Type Disproportions
  • Congenital Myopathy with Fiber Type Disproportion
  • Congenital Non Progressive Myopathies
  • Congenital Non-Progressive Myopathies
  • Congenital Non-Progressive Myopathy
  • Congenital Structural Myopathies
  • Congenital Structural Myopathy
  • Disproportion, Congenital Fiber-Type
  • Disproportions, Congenital Fiber-Type
  • Fiber Type Disproportion Myopathy, Congenital
  • Fiber-Type Disproportion Myopathy, Congenital
  • Fiber-Type Disproportion, Congenital
  • Fiber-Type Disproportions, Congenital
  • Kongenitale Fasertyp-Disproportion (DE)
  • Kongenitale Fasertypendisproportion (DE)
  • Myopathie mit tubulären Aggregaten (DE)
  • Myopathie, myotubuläre (DE)
  • Myopathien, strukturelle, angeborene (DE)
  • Myopathies, Centronuclear
  • Myopathies, Congenital Non-Progressive
  • Myopathies, Congenital Structural
  • Myopathies, Myotubular
  • Myopathies, Tubular Aggregate
  • Myopathies, X-Linked Centronuclear
  • Myopathies, X-Linked Myotubular
  • Myopathy, Centronuclear
  • Myopathy, Centronuclear, 1
  • Myopathy, Centronuclear, Autosomal Dominant
  • Myopathy, Congenital Non-Progressive
  • Myopathy, Congenital Structural
  • Myopathy, Congenital, With Fiber-Type Disproportion
  • Myopathy, Myotubular
  • Myopathy, Tubular Aggregate
  • Myopathy, X-Linked Centronuclear
  • Myopathy, X-Linked Myotubular
  • Myotubular Myopathies
  • Myotubular Myopathies, X-Linked
  • Myotubular Myopathy
  • Myotubular Myopathy 1
  • Myotubular Myopathy, Autosomal Dominant
  • Myotubular Myopathy, X Linked
  • Myotubular Myopathy, X-Linked
  • Non Progressive Myopathies, Congenital
  • Non-Progressive Myopathies, Congenital
  • Non-Progressive Myopathy, Congenital
  • Structural Myopathies, Congenital
  • Structural Myopathy, Congenital
  • Tubular Aggregate Myopathies
  • Tubular Aggregate Myopathy
  • X Linked Centronuclear Myopathy
  • X Linked Myotubular Myopathy
  • X-Linked Centronuclear Myopathies
  • X-Linked Centronuclear Myopathy
  • X-Linked Myotubular Myopathies
  • X-Linked Myotubular Myopathy
  • XLMTM
  • Zentronukleäre Myopathie (DE)
AQL

BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

20000101

HN

2000

MDA

19991109

MMR

20160119

MN

C05.651.575, C10.668.491.550

PM

2000

QB

http://purl.bioontology.org/ontology/MESH/Q000175, http://purl.bioontology.org/ontology/MESH/Q000097, http://purl.bioontology.org/ontology/MESH/Q000196, http://purl.bioontology.org/ontology/MESH/Q000151, http://purl.bioontology.org/ontology/MESH/Q000150, http://purl.bioontology.org/ontology/MESH/Q000191, http://purl.bioontology.org/ontology/MESH/Q000139, http://purl.bioontology.org/ontology/MESH/Q000534, http://purl.bioontology.org/ontology/MESH/Q000532, http://purl.bioontology.org/ontology/MESH/Q000235, http://purl.bioontology.org/ontology/MESH/Q000378, http://purl.bioontology.org/ontology/MESH/Q000652, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000821, http://purl.bioontology.org/ontology/MESH/Q000469, http://purl.bioontology.org/ontology/MESH/Q000601, http://purl.bioontology.org/ontology/MESH/Q000523, http://purl.bioontology.org/ontology/MESH/Q000401, http://purl.bioontology.org/ontology/MESH/Q000201, http://purl.bioontology.org/ontology/MESH/Q000662, http://purl.bioontology.org/ontology/MESH/Q000266, http://purl.bioontology.org/ontology/MESH/Q000145, http://purl.bioontology.org/ontology/MESH/Q000188, http://purl.bioontology.org/ontology/MESH/Q000628, http://purl.bioontology.org/ontology/MESH/Q000209, http://purl.bioontology.org/ontology/MESH/Q000208, http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D011111, http://purl.bioontology.org/ontology/MESH/D016603, http://purl.bioontology.org/ontology/MESH/D010245, http://purl.bioontology.org/ontology/MESH/D015673, http://purl.bioontology.org/ontology/MESH/D058923, http://purl.bioontology.org/ontology/MESH/D018908, http://purl.bioontology.org/ontology/MESH/D012206, http://purl.bioontology.org/ontology/MESH/D019042, http://purl.bioontology.org/ontology/MESH/D052256, http://purl.bioontology.org/ontology/MESH/D020386, http://purl.bioontology.org/ontology/MESH/D003286, http://purl.bioontology.org/ontology/MESH/D009127, http://purl.bioontology.org/ontology/MESH/D009128, http://purl.bioontology.org/ontology/MESH/D017240, http://purl.bioontology.org/ontology/MESH/D020966, http://purl.bioontology.org/ontology/MESH/D020967, http://purl.bioontology.org/ontology/MESH/D009209, http://purl.bioontology.org/ontology/MESH/D009220, http://purl.bioontology.org/ontology/MESH/D009120, http://purl.bioontology.org/ontology/MESH/D003161, http://purl.bioontology.org/ontology/MESH/D001176, http://purl.bioontology.org/ontology/MESH/D063806, http://purl.bioontology.org/ontology/MESH/D005356, http://purl.bioontology.org/ontology/MESH/D017271, http://purl.bioontology.org/ontology/MESH/D059352

TERMUI

T812390, T812391, T841172, T841092, T841170, T841093, T369297, T841091, T369298, T369295, T369296, T369294, T369299, T358270, T000888433, T000888434, T000888435, T000888437, T000888438, T369301, T812368, T369300, T000891835, T803121, T000891834, T803120

TH

GHR (2014), OMIM (2015), ORD (2010), OMIM (2013), NLM (2000), NLM (2014)

cui

C0410203, C0752282, C4551952, C3661489, C3645536, C0546264, C0175709, C1834558, C0410207

hasSTY

http://purl.bioontology.org/ontology/STY/T047, http://purl.bioontology.org/ontology/STY/T019

mapped from

http://purl.bioontology.org/ontology/MESH/C564561, http://purl.bioontology.org/ontology/MESH/C567594, http://purl.bioontology.org/ontology/MESH/C564968, http://purl.bioontology.org/ontology/MESH/C579880, http://purl.bioontology.org/ontology/MESH/C580316, http://purl.bioontology.org/ontology/MESH/C564969, http://purl.bioontology.org/ontology/MESH/C562934, http://purl.bioontology.org/ontology/MESH/C579969, http://purl.bioontology.org/ontology/MESH/C000598645, http://purl.bioontology.org/ontology/MESH/C563775, http://purl.bioontology.org/ontology/MESH/C567843, http://purl.bioontology.org/ontology/MESH/C564883

tui

T019, T047

Term relations

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