Medical Subject Headings

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/MESH/D020914 http://purl.bioontology.org/ontology/MESH/D020914
Preferred Name	Myopathies, Structural, Congenital
Definitions	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.
Synonyms	Myopathies, X-Linked Myotubular Congenital Myopathy with Fiber Type Disproportion Centronuclear Myopathies, X-Linked Structural Myopathy, Congenital Autosomal Dominant Myotubular Myopathy X-Linked Myotubular Myopathies Congenital Fiber-Type Disproportion Myotubular Myopathy, Autosomal Dominant Myopathy, Myotubular Disproportion, Congenital Fiber-Type Non-Progressive Myopathies, Congenital Autosomal Recessive Centronuclear Myopathy Myopathy, Centronuclear, Autosomal Dominant Tubular Aggregate Myopathies Aggregate Myopathies, Tubular Congenital Fiber-Type Disproportions Fiber-Type Disproportion Myopathy, Congenital Fiber-Type Disproportions, Congenital Congenital Structural Myopathy CFTDM X Linked Myotubular Myopathy Myotubular Myopathies, X-Linked Non Progressive Myopathies, Congenital Centronuclear Myopathies Myopathy, Congenital Non-Progressive Fiber-Type Disproportion, Congenital Non-Progressive Myopathy, Congenital Myopathies, Congenital Non-Progressive Congenital Fiber Type Disproportion Myotubular Myopathy 1 Congenital Non Progressive Myopathies X-Linked Centronuclear Myopathy X-Linked Myotubular Myopathy Myopathy, Centronuclear X-Linked Centronuclear Myopathies Myopathy, Centronuclear, 1 Myopathy, X-Linked Myotubular Myopathies, Centronuclear Myopathies, X-Linked Centronuclear Congenital Non-Progressive Myopathies Structural Myopathies, Congenital Myopathy, X-Linked Centronuclear Centronuclear Myopathy Myopathy, Congenital Structural X Linked Centronuclear Myopathy Centronuclear Myopathy, X-Linked Myopathies, Myotubular Myotubular Myopathy, X Linked Tubular Aggregate Myopathy Congenital Structural Myopathies Myotubular Myopathies Aggregate Myopathy, Tubular Myotubular Myopathy Myopathies, Tubular Aggregate Myotubular Myopathy, X-Linked Congenital Non-Progressive Myopathy Myopathy, Congenital, With Fiber-Type Disproportion Disproportions, Congenital Fiber-Type Myopathies, Congenital Structural Myopathy, Tubular Aggregate Fiber Type Disproportion Myopathy, Congenital XLMTM See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	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.
altLabel	Myopathies, X-Linked Myotubular Congenital Myopathy with Fiber Type Disproportion Centronuclear Myopathies, X-Linked Structural Myopathy, Congenital Autosomal Dominant Myotubular Myopathy X-Linked Myotubular Myopathies Congenital Fiber-Type Disproportion Myotubular Myopathy, Autosomal Dominant Myopathy, Myotubular Disproportion, Congenital Fiber-Type Non-Progressive Myopathies, Congenital Autosomal Recessive Centronuclear Myopathy Myopathy, Centronuclear, Autosomal Dominant Tubular Aggregate Myopathies Aggregate Myopathies, Tubular Congenital Fiber-Type Disproportions Fiber-Type Disproportion Myopathy, Congenital Fiber-Type Disproportions, Congenital Congenital Structural Myopathy CFTDM X Linked Myotubular Myopathy Myotubular Myopathies, X-Linked Non Progressive Myopathies, Congenital Centronuclear Myopathies Myopathy, Congenital Non-Progressive Fiber-Type Disproportion, Congenital Non-Progressive Myopathy, Congenital Myopathies, Congenital Non-Progressive Congenital Fiber Type Disproportion Myotubular Myopathy 1 Congenital Non Progressive Myopathies X-Linked Centronuclear Myopathy X-Linked Myotubular Myopathy Myopathy, Centronuclear X-Linked Centronuclear Myopathies Myopathy, Centronuclear, 1 Myopathy, X-Linked Myotubular Myopathies, Centronuclear Myopathies, X-Linked Centronuclear Congenital Non-Progressive Myopathies Structural Myopathies, Congenital Myopathy, X-Linked Centronuclear Centronuclear Myopathy Myopathy, Congenital Structural X Linked Centronuclear Myopathy Centronuclear Myopathy, X-Linked Myopathies, Myotubular Myotubular Myopathy, X Linked Tubular Aggregate Myopathy Congenital Structural Myopathies Myotubular Myopathies Aggregate Myopathy, Tubular Myotubular Myopathy Myopathies, Tubular Aggregate Myotubular Myopathy, X-Linked Congenital Non-Progressive Myopathy Myopathy, Congenital, With Fiber-Type Disproportion Disproportions, Congenital Fiber-Type Myopathies, Congenital Structural Myopathy, Tubular Aggregate Fiber Type Disproportion Myopathy, Congenital XLMTM See more See less
prefLabel	Myopathies, Structural, Congenital
TH	OMIM (2013) OMIM (2015) NLM (2000) GHR (2014) NLM (2014) ORD (2010) See more See less
notation	D020914
DX	20000101
Machine permutation	2000
MN	C10.668.491.550 C05.651.575
MMR	20190705
Mapped from	http://purl.bioontology.org/ontology/MESH/C564968 http://purl.bioontology.org/ontology/MESH/C564969 http://purl.bioontology.org/ontology/MESH/C580316 http://purl.bioontology.org/ontology/MESH/C567843 http://purl.bioontology.org/ontology/MESH/C564561 http://purl.bioontology.org/ontology/MESH/C567594 http://purl.bioontology.org/ontology/MESH/C579969 http://purl.bioontology.org/ontology/MESH/C562934 http://purl.bioontology.org/ontology/MESH/C579880 http://purl.bioontology.org/ontology/MESH/C564883 http://purl.bioontology.org/ontology/MESH/C000598645 http://purl.bioontology.org/ontology/MESH/C563775 See more See less
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
HN	2000
subClassOf	http://purl.bioontology.org/ontology/MESH/D009135
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047 http://purl.bioontology.org/ontology/STY/T019
DC	1
MDA	19991109
type	http://www.w3.org/2002/07/owl#Class
tui	T047 T019
cui	C3645536 C4551952 C0546264 C3661489 C0752282 C0410203 C0410207 C1834558 C0175709 See more See less
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401 See more See less
TERMUI	T369294 T841091 T803121 T369299 T369300 T812368 T000888437 T000888435 T000891835 T369298 T841172 T369295 T812390 T358270 T812391 T000888438 T000888433 T369301 T369296 T841092 T000888434 T841170 T803120 T369297 T000891834 T841093 See more See less

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