Preferred Name |
Myopathies, Structural, Congenital |
|
Synonyms |
Myopathies, X-Linked Myotubular XLMTM |
|
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. |
|
ID |
http://purl.bioontology.org/ontology/MESH/D020914 |
|
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 |
|
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 |
|
cui |
C3645536 C4551952 C0546264 C3661489 C0752282 C0410203 C0410207 C1834558 C0175709 |
|
DC |
1 |
|
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. |
|
DX |
20000101 |
|
HN |
2000 |
|
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 |
|
Machine permutation |
2000 |
|
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 |
|
MDA |
19991109 |
|
MMR |
20190705 |
|
MN |
C10.668.491.550 C05.651.575 |
|
notation |
D020914 |
|
prefLabel |
Myopathies, Structural, Congenital |
|
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 |
|
TH |
OMIM (2013) OMIM (2015) NLM (2000) GHR (2014) NLM (2014) ORD (2010) |
|
tui |
T047 T019 |
|
subClassOf |