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 |
|
Machine permutation |
2000 |
|
Mapped from |
http://purl.bioontology.org/ontology/MESH/C563557 http://purl.bioontology.org/ontology/MESH/C563542 |
|
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 |