Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Muscular Dystrophy, Facioscapulohumeral

Synonyms

Facioscapulohumeral Atrophies

Definitions

An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)

ID

http://purl.bioontology.org/ontology/MESH/D020391

altLabel

Facioscapulohumeral Atrophies

Facioscapuloperoneal Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophies

Dystrophy, Landouzy-Dejerine

Progressive Muscular Dystrophy, Facioscapulohumeral Type

Atrophies, Facioscapulohumeral

Dystrophy, Facioscapulohumeral Muscular

Landouzy-Dejerine Dystrophies

Facioscapulohumeral Atrophy

Facio-Scapulo-Humeral Dystrophy

Facioscapulohumeral Muscular Dystrophy

Muscular Dystrophy, Landouzy Dejerine

FSH Muscular Dystrophy

Dystrophies, Landouzy-Dejerine

Landouzy Dejerine Dystrophy

Atrophy, Facioscapulohumeral

Dystrophies, Facioscapulohumeral Muscular

Muscular Dystrophies, Facioscapulohumeral

Facioscapulohumeral Type Progressive Muscular Dystrophy

Landouzy-Dejerine Dystrophy

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 VI

cui

C0238288

DC

1

definition

An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)

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/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/C563557

http://purl.bioontology.org/ontology/MESH/C563542

http://purl.bioontology.org/ontology/MESH/C562932

http://purl.bioontology.org/ontology/MESH/C536391

MDA

19991103

MMR

20130708

MN

C05.651.534.500.400

C10.668.491.175.500.400

C16.320.577.400

notation

D020391

prefLabel

Muscular Dystrophy, Facioscapulohumeral

TERMUI

T369199

T841355

T369200

T841354

T369198

T369197

T369201

T841357

T358187

T843496

TH

OMIM (2013)

NLM (2000)

GHR (2014)

NLM (2014)

ORD (2010)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D009136

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/RCD/F3914 RCD CUI
http://purl.bioontology.org/ontology/SNMI/DA-51240 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10064087 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/1849-6662 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10064087 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/158900 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/399091004 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.02 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10064087 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/399091004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004133 NDFRT CUI
http://purl.bioontology.org/ontology/OMIM/MTHU074134 OMIM CUI
http://purl.bioontology.org/ontology/MSHFRE/D020391 MSHFRE CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.668.491.175.500.400 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D020391 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0020277 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.577.400 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036715 PMAPP-PMO LOOM
urn:agi-pathway:uuid-0a156b93-ca58-4016-8fe8-b8a8002320ca BPT LOOM
urn:agi-folder:muscular_dystrophy,_facioscapulohumeral BPT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.651.534.500.400 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D020391 MDM LOOM
http://purl.jp/bio/4/id/200906006206520323 IOBC LOOM