Medical Subject Headings

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/MESH/D020389 http://purl.bioontology.org/ontology/MESH/D020389
Preferred Name	Muscular Dystrophy, Emery-Dreifuss
Definitions	A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations.
Synonyms	Myopathy, Myosin Storage Autosomal Recessive Emery-Dreifuss Muscular Dystrophy MYH7-Related Scapuloperoneal Myopathy Scapuloperoneal Myopathy, MYH7-Related Muscular Dystrophy, Scapuloperoneal Emery Dreifuss Muscular Dystrophy Muscular Dystrophy, Emery-Dreifuss Type Emery-Dreifuss Syndrome Myopathy, Hyaline Body, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive Muscular Dystrophy, Emery Dreifuss Storage Myopathy, Myosin Myopathy, MYH7-Related Scapuloperoneal Myosin Storage Myopathies Scapuloperoneal Myopathy, MYH7 Related Myosin Storage Myopathy Scapuloperoneal Muscular Dystrophy Autosomal Recessive Emery Dreifuss Muscular Dystrophy Emery Dreifuss Syndrome Emery Dreifuss Muscular Dystrophy, Autosomal Recessive Emery-Dreifuss Type Muscular Dystrophy Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations.
altLabel	Myopathy, Myosin Storage Autosomal Recessive Emery-Dreifuss Muscular Dystrophy MYH7-Related Scapuloperoneal Myopathy Scapuloperoneal Myopathy, MYH7-Related Muscular Dystrophy, Scapuloperoneal Emery Dreifuss Muscular Dystrophy Muscular Dystrophy, Emery-Dreifuss Type Emery-Dreifuss Syndrome Myopathy, Hyaline Body, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive Muscular Dystrophy, Emery Dreifuss Storage Myopathy, Myosin Myopathy, MYH7-Related Scapuloperoneal Myosin Storage Myopathies Scapuloperoneal Myopathy, MYH7 Related Myosin Storage Myopathy Scapuloperoneal Muscular Dystrophy Autosomal Recessive Emery Dreifuss Muscular Dystrophy Emery Dreifuss Syndrome Emery Dreifuss Muscular Dystrophy, Autosomal Recessive Emery-Dreifuss Type Muscular Dystrophy Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive See more See less
prefLabel	Muscular Dystrophy, Emery-Dreifuss
TH	OMIM (2013) NLM (2000) NLM (2005) GHR (2014) NLM (2014) ORD (2010) NLM (2025) See more See less
notation	D020389
DX	20000101
Machine permutation	2000; for MUSCULAR DYSTROPHY, SCAPULOPERONEAL see MUSCULAR DYSTROPHIES 2000-2004
MN	C16.320.322.625 C16.320.577.350 C10.668.491.175.500.350 C05.651.534.500.350
MMR	20231218
Mapped from	http://purl.bioontology.org/ontology/MESH/C535734 http://purl.bioontology.org/ontology/MESH/C567481 http://purl.bioontology.org/ontology/MESH/C536624
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
HN	2000; for MUSCULAR DYSTROPHY, SCAPULOPERONEAL use MUSCULAR DYSTROPHIES 2000-2004
subClassOf	http://purl.bioontology.org/ontology/MESH/D040181 http://purl.bioontology.org/ontology/MESH/D009136
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
DC	1
MDA	20240809
type	http://www.w3.org/2002/07/owl#Class
tui	T047
cui	C4759774 C0410189 C1450051
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 See more See less
TERMUI	T804485 T845657 T582208 T804484 T358183 T582210 T841327 T582209 T001141696 T369194 T369195 T369180 T369196 T812436 See more See less

Add comment

Add proposal

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display