Medical Subject Headings

Last uploaded: January 31, 2024
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

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401

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

http://purl.bioontology.org/ontology/MESH/C000598645

http://purl.bioontology.org/ontology/MESH/C563775

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

http://purl.bioontology.org/ontology/MESH/D009135

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/G71.228 ICD10CM CUI
http://purl.bioontology.org/ontology/OMIM/160150 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/DA-51512 SNMI CUI
http://purl.bioontology.org/ontology/MSHFRE/D020914 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/X708v RCD CUI
http://purl.bioontology.org/ontology/RCD/X7094 RCD CUI
http://purl.bioontology.org/ontology/OMIM/160150 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/82077006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/602378 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU076569 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/255310 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/240084007 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D020914 MSHFRE CUI
http://purl.bioontology.org/ontology/OMIM/MTHU053095 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/240084007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/MTHU067012 OMIM CUI
http://purl.bioontology.org/ontology/RCD/X708z RCD CUI
http://purl.bioontology.org/ontology/OMIM/191030 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU032350 OMIM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004216 NDFRT CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.220 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/46804001 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/46804001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/310400 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/300415 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/DA-51528 SNMI CUI
http://purl.bioontology.org/ontology/MSHFRE/D020914 MSHFRE CUI
http://purl.bioontology.org/ontology/OMIM/160565 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/240087000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/240087000 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.228 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/716696006 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/716696006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10088268 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/DA-51520 SNMI CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.228 ICD10CM CUI
http://purl.bioontology.org/ontology/MSHFRE/D020914 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/F3902 RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10088268 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.22 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/82077006 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10088268 MDRGER CUI
http://www.phoc.org.cn/pmo/class/PMO_00037739 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.668.491.550 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.651.575 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D020914 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0020738 OMIT LOOM
http://purl.jp/bio/4/id/200906098415659047 IOBC LOOM