Medical Subject Headings

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/MESH/D000083143
http://purl.bioontology.org/ontology/MESH/D000083143
Preferred Name

X-Linked Emery-Dreifuss Muscular Dystrophy
Definitions
Emery-Dreifuss muscular dystrophy associated with mutations on emerin (EMD gene) or four and a half LIM domains 1 (FHL1 gene) both located on X chromosome.
Synonyms
Emery-Dreifuss Muscular Dystrophy, 1
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures
X-Linked Scapuloperoneal Syndrome
Muscular Dystrophy, Emery-Dreifuss, X-Linked
Emery-Dreifuss Muscular Dystrophy 1
XMPMA
Emery-Dreifuss Muscular Dystrophy 6, X-Linked
Emerinopathy
X Linked Emery Dreifuss Muscular Dystrophy
Scapuloperoneal Syndrome, X-Linked
Myopathy, X-Linked, With Postural Muscle Atrophy
Emery Dreifuss Muscular Dystrophy, X Linked
Emery Dreifuss Muscular Dystrophy, 1
Emery-Dreifuss Muscular Dystrophy 6
Emery Dreifuss Muscular Dystrophy 6, X Linked
Emery Dreifuss Muscular Dystrophy 1
Emerinopathies
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Scapuloperoneal Syndrome, X Linked
Emery-Dreifuss Muscular Dystrophy, X-Linked
EDMD1
Emery Dreifuss Muscular Dystrophy 6
Emery Dreifuss Muscular Dystrophy 1, X Linked
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Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

Emery-Dreifuss muscular dystrophy associated with mutations on emerin (EMD gene) or four and a half LIM domains 1 (FHL1 gene) both located on X chromosome.
altLabel
Emery-Dreifuss Muscular Dystrophy, 1
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures
X-Linked Scapuloperoneal Syndrome
Muscular Dystrophy, Emery-Dreifuss, X-Linked
Emery-Dreifuss Muscular Dystrophy 1
XMPMA
Emery-Dreifuss Muscular Dystrophy 6, X-Linked
Emerinopathy
X Linked Emery Dreifuss Muscular Dystrophy
Scapuloperoneal Syndrome, X-Linked
Myopathy, X-Linked, With Postural Muscle Atrophy
Emery Dreifuss Muscular Dystrophy, X Linked
Emery Dreifuss Muscular Dystrophy, 1
Emery-Dreifuss Muscular Dystrophy 6
Emery Dreifuss Muscular Dystrophy 6, X Linked
Emery Dreifuss Muscular Dystrophy 1
Emerinopathies
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Scapuloperoneal Syndrome, X Linked
Emery-Dreifuss Muscular Dystrophy, X-Linked
EDMD1
Emery Dreifuss Muscular Dystrophy 6
Emery Dreifuss Muscular Dystrophy 1, X Linked
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prefLabel
X-Linked Emery-Dreifuss Muscular Dystrophy
Machine permutation
2021
HN
2021
type
tui
T047
TERMUI
T001004877
T001004903
T582202
T582200
T841328
T001004876
T810501
T752541
T812437
T810729
T829520
T001004898
T001004897
T582201
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TH
OMIM (2013)
NLM (2005)
NLM (2021)
NLM (2013)
NLM (2010)
GHR (2014)
NLM (2014)
ORD (2010)
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MMR
20210510
notation
D000083143
Semantic type UMLS property
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/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
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DX
20210101
cui
C2678055
C0751337
C2749106
C5243475
DC
1
MN
C05.651.534.500.350.500
C16.320.577.350.500
C16.320.322.625.500
C10.668.491.175.500.350.500
AQL
BL CF CI CL 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
MDA
20040409
subClassOf
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