loading...| Preferred Name |
Myopathies, Structural, Congenital |
| Synonyms |
X-Linked Centronuclear Myopathy |
| 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 |
X-Linked Centronuclear Myopathy Myopathy, X-Linked Myotubular Tubular Aggregate Myopathies Myopathies, X-Linked Centronuclear Myopathy, Centronuclear, Autosomal Dominant X Linked Centronuclear Myopathy Congenital Fiber Type Disproportion Myopathies, Congenital Non-Progressive Myopathy, Centronuclear, 1 Congenital Fiber-Type Disproportion XLMTM Aggregate Myopathy, Tubular Myotubular Myopathy, X Linked Myotubular Myopathy, X-Linked Myopathies, Tubular Aggregate Congenital Non Progressive Myopathies Aggregate Myopathies, Tubular Congenital Non-Progressive Myopathy Structural Myopathy, Congenital Myopathy, Centronuclear Fiber-Type Disproportions, Congenital X-Linked Centronuclear Myopathies Myotubular Myopathy 1 Autosomal Dominant Myotubular Myopathy Centronuclear Myopathy Myopathies, Myotubular Congenital Non-Progressive Myopathies Myopathy, Myotubular Structural Myopathies, Congenital Myopathy, Tubular Aggregate Myotubular Myopathy, Autosomal Dominant X-Linked Myotubular Myopathy Myotubular Myopathy Congenital Myopathy with Fiber Type Disproportion Myopathy, Congenital, With Fiber-Type Disproportion Centronuclear Myopathies Autosomal Recessive Centronuclear Myopathy X-Linked Myotubular Myopathies Non Progressive Myopathies, Congenital Congenital Structural Myopathy Centronuclear Myopathies, X-Linked Congenital Structural Myopathies Disproportions, Congenital Fiber-Type X Linked Myotubular Myopathy Tubular Aggregate Myopathy Congenital Fiber-Type Disproportions Myopathies, Congenital Structural Centronuclear Myopathy, X-Linked Non-Progressive Myopathy, Congenital Myopathy, Congenital Non-Progressive Myopathies, X-Linked Myotubular Fiber-Type Disproportion, Congenital Myopathy, Congenital Structural Fiber-Type Disproportion Myopathy, Congenital Myotubular Myopathies Myopathies, Centronuclear Fiber Type Disproportion Myopathy, Congenital Disproportion, Congenital Fiber-Type Myopathy, X-Linked Centronuclear CFTDM Myotubular Myopathies, X-Linked Non-Progressive Myopathies, Congenital |
| 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 |
C0175709 C4551952 C1834558 C3661489 C3645536 C0410203 C0546264 C0410207 C0752282 |
| 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/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of SIB |
http://purl.bioontology.org/ontology/MESH/D018908 http://purl.bioontology.org/ontology/MESH/D059352 http://purl.bioontology.org/ontology/MESH/D020386 http://purl.bioontology.org/ontology/MESH/D003286 http://purl.bioontology.org/ontology/MESH/D003161 http://purl.bioontology.org/ontology/MESH/D016603 http://purl.bioontology.org/ontology/MESH/D011111 http://purl.bioontology.org/ontology/MESH/D020967 http://purl.bioontology.org/ontology/MESH/D017271 http://purl.bioontology.org/ontology/MESH/D010245 http://purl.bioontology.org/ontology/MESH/D005356 http://purl.bioontology.org/ontology/MESH/D009128 http://purl.bioontology.org/ontology/MESH/D009209 http://purl.bioontology.org/ontology/MESH/D012206 http://purl.bioontology.org/ontology/MESH/D058923 http://purl.bioontology.org/ontology/MESH/D052256 http://purl.bioontology.org/ontology/MESH/D063806 http://purl.bioontology.org/ontology/MESH/D020966 http://purl.bioontology.org/ontology/MESH/D009220 http://purl.bioontology.org/ontology/MESH/D015673 http://purl.bioontology.org/ontology/MESH/D009120 http://purl.bioontology.org/ontology/MESH/D001176 http://purl.bioontology.org/ontology/MESH/D017240 |
| Machine permutation |
2000 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C000598645 http://purl.bioontology.org/ontology/MESH/C579880 http://purl.bioontology.org/ontology/MESH/C563775 http://purl.bioontology.org/ontology/MESH/C564968 http://purl.bioontology.org/ontology/MESH/C567843 http://purl.bioontology.org/ontology/MESH/C567594 http://purl.bioontology.org/ontology/MESH/C564561 http://purl.bioontology.org/ontology/MESH/C564969 http://purl.bioontology.org/ontology/MESH/C579969 http://purl.bioontology.org/ontology/MESH/C580316 |
| MDA |
19991109 |
| MMR |
20160119 |
| MN |
C10.668.491.550 C05.651.575 |
| notation |
D020914 |
| prefLabel |
Myopathies, Structural, Congenital |
| TERMUI |
T812368 T369299 T812390 T000888433 T841093 T841172 T369297 T841091 T803120 T000891835 T000888434 T358270 T000888437 T369296 T369300 T369298 T000888435 T812391 T000888438 T841092 T369294 T841170 T000891834 T369295 T369301 T803121 |
| TH |
NLM (2000) NLM (2014) OMIM (2015) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T019 T047 |
| subClassOf |