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Ontology Browser
Term:
Duchenne muscular dystrophy (DOID:11723)
Annotations: Rat: (22) Mouse: (18) Human: (20) Chinchilla: (17) Bonobo: (18) Dog: (18) Squirrel: (17) Pig: (18)
Parent Terms Term With Siblings Child Terms
Aarskog syndrome +   
adrenoleukodystrophy +   
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
Alpha-B Crystallinopathy with Cataract 
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Barth syndrome +   
Bassoe Syndrome 
Becker muscular dystrophy +   
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Brunner syndrome  
CD40 ligand deficiency +   
Charcot-Marie-Tooth disease X-linked recessive 2 
Charcot-Marie-Tooth disease X-linked recessive 3 
Charcot-Marie-Tooth disease X-linked recessive 4  
Charcot-Marie-Tooth disease X-linked recessive 5  
congenital disorder of glycosylation Iy  
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
congenital muscular dystrophy +   
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
Dent disease +   
distal myopathy +   
Duchenne muscular dystrophy +   
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
Emery-Dreifuss muscular dystrophy +   
facioscapulohumeral muscular dystrophy +   
factor VIII deficiency +   
Fanconi anemia complementation group B  
FG syndrome  
glycogen storage disease IXa  
glycogen storage disease IXd  
glycogen storage disease VII  
hemophilia B  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
hypogonadotropic hypogonadism 1 with or without anosmia  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Kennedy's disease  
Lesch-Nyhan syndrome +   
limb-girdle muscular dystrophy +   
MASA syndrome  
megalocornea +   
MEHMO syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Muscular Dystrophy, Animal +   
Muscular Dystrophy, Barnes Type 
Muscular Dystrophy, Cardiac Type 
Muscular Dystrophy, Mabry Type 
Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 
Myofibrillar Myopathy, ZASP-Related  
Myopathy with Abnormal Lipid Metabolism  
MYOPATHY, SCAPULOHUMEROPERONEAL  
myotonic disease +   
Norrie disease  
occipital horn syndrome  
oculocerebrorenal syndrome +   
oculopharyngeal muscular dystrophy +   
Oculopharyngodistal Myopathy  
Ogden syndrome  
Opitz-GBBB syndrome +   
Partington syndrome  
Pelizaeus-Merzbacher disease +   
phosphoribosylpyrophosphate synthetase superactivity  
Prieto syndrome 
Progressive Muscular Dystrophy, Pectorodorsal 
Renpenning syndrome  
retinitis pigmentosa 23  
rigid spine muscular dystrophy 1  
Ritscher-Schinzel syndrome 2  
scapuloperoneal myopathy +   
sideroblastic anemia 1  
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
spondyloepiphyseal dysplasia tarda +   
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
syndromic X-linked intellectual disability Turner type  
Vacuolar Neuromyopathy 
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
X-linked adrenal hypoplasia congenita  
X-linked agammaglobulinemia  
X-linked chondrodysplasia punctata 1  
X-linked chronic granulomatous disease  
X-linked cone-rod dystrophy 3  
X-linked dyskeratosis congenita +   
X-linked dystonia-parkinsonism  
X-linked Emery-Dreifuss muscular dystrophy 1  
X-linked Emery-Dreifuss muscular dystrophy 6  
X-linked hyper IgM syndrome  
X-linked ichthyosis +   
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked juvenile retinoschisis 1  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-linked myopathy with excessive autophagy  
X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities  
X-linked recessive hypophosphatemic rickets  
X-Linked Recessive Nephrolithiasis with Renal Failure  
X-linked severe combined immunodeficiency  
X-linked sideroblastic anemia with ataxia  
X-linked spermatogenic failure 2  

Synonyms
Exact Synonyms: DMD ;   Duchenne Becker Muscular Dystrophy ;   Duchenne Type Progressive Muscular Dystrophy ;   Duchenne and Becker muscular dystrophy ;   Muscular Dystrophy, Duchenne Type ;   Muscular Dystrophy, Duchenne and Becker Types ;   childhood pseudohypertrophic muscular dystrophy ;   pseudohypertrophic muscular dystrophy ;   pseudohypertrophic progressive muscular dystrophy, Becker type ;   pseudohypertrophic progressive muscular dystrophy, Duchenne type
Narrow Synonyms: BECKER MUSCULAR DYSTROPHY, ATYPICAL ;   INTERMEDIATE MUSCULAR DYSTROPHY
Primary IDs: MESH:D020388
Alternate IDs: OMIA:001081 ;   OMIM:310200 ;   RDO:0003545
Xrefs: GARD:6291 ;   NCI:C75482
Definition Sources: MESH:D020388, http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy, http://omim.org/entry/300377, http://www.genome.gov/19518854

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