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Ontology Browser

Term:
congenital muscular dystrophy (DOID:0050557)
Annotations: Rat: (116) Mouse: (116) Human: (137) Chinchilla: (114) Bonobo: (119) Dog: (115) Squirrel: (113) Pig: (114)
Parent Terms Term With Siblings Child Terms
muscular dystrophy +     
physical disorder +     
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
agnathia-otocephaly complex  
Alpha-B Crystallinopathy with Cataract 
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
autosomal dominant congenital deafness with onychodystrophy  
autosomal recessive congenital ichthyosis +   
Bassoe Syndrome 
Becker muscular dystrophy  
bladder exstrophy-epispadias-cloacal exstrophy complex +   
blepharophimosis +   
caudal regression syndrome  
cleft palate-lateral synechia syndrome  
congenital adrenal hyperplasia +   
congenital adrenal insufficiency  
congenital afibrinogenemia +   
congenital amegakaryocytic thrombocytopenia  
congenital aphakia  
congenital bilateral absence of vas deferens +   
congenital bile acid synthesis defect +   
congenital central hypoventilation syndrome +   
congenital chylothorax  
congenital contractural arachnodactyly  
congenital diaphragmatic hernia +   
congenital diarrhea +   
congenital disorder of glycosylation +   
congenital epulis 
congenital fibrosarcoma 
congenital fibrosis of the extraocular muscles +   
Congenital Foot Deformities +   
congenital generalized lipodystrophy +   
congenital granular cell tumor 
congenital heart block +   
congenital heart disease +   
congenital hemolytic anemia +   
congenital hereditary endothelial dystrophy of cornea  
congenital hypogammaglobulinemia 
congenital hypoplastic anemia +   
congenital hypothyroidism +   
congenital hypotrichosis with juvenile macular dystrophy  
congenital intrinsic factor deficiency  
congenital lactase deficiency  
congenital leptin deficiency  
congenital megabladder  
congenital mesoblastic nephroma +   
congenital mirror movement disorder +   
congenital muscular dystrophy +   
A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. (DO)
congenital myasthenic syndrome +   
congenital myopathy +   
congenital nervous system abnormality +   
congenital nystagmus +   
congenital ptosis +   
congenital stationary night blindness +   
congenital stromal corneal dystrophy  
congenital structural myopathy +   
congenital sucrase-isomaltase deficiency  
congenital syphilis +  
congenital toxoplasmosis  
cryptophthalmia +   
developmental cardiac valvular defect  
distal myopathy +   
Duchenne muscular dystrophy +   
Emery-Dreifuss muscular dystrophy +   
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
facioscapulohumeral muscular dystrophy +   
gastroschisis +   
glycogen storage disease VII  
Hereditary Motor Neuropathy with Myopathic Features  
hypospadias +   
imperforate anus +   
Klippel-Feil syndrome +   
large congenital melanocytic nevus  
laryngomalacia +   
Leber congenital amaurosis +   
lethal congenital contracture syndrome +   
lethal congenital glycogen storage disease of heart  
limb-girdle muscular dystrophy +   
Meckel's diverticulum 
MLS syndrome +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
Muscular Dystrophy, Animal +   
Muscular Dystrophy, Barnes Type 
Muscular Dystrophy, Cardiac Type 
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME  
Muscular Dystrophy, Mabry Type 
Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 
Myofibrillar Myopathy, ZASP-Related  
Myopathy with Abnormal Lipid Metabolism  
myotonic disease +   
neural tube defect +   
non-congenital cyst of kidney 
nonsyndromic congenital nail disorder +   
oculopharyngeal muscular dystrophy +   
Oculopharyngodistal Myopathy +   
omphalocele  
orofacial cleft +   
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
Poland syndrome 
polydactyly +   
primary congenital glaucoma +   
Progressive Muscular Dystrophy, Pectorodorsal 
radioulnar synostosis +   
rapidly involuting congenital hemangioma 
Scapulohumeroperoneal Myopathy  
scapuloperoneal myopathy +   
severe congenital encephalopathy due to MECP2 mutation  
severe congenital neutropenia +   
Silver-Russell syndrome +   
spondyloepiphyseal dysplasia with congenital joint dislocations  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
TORCH syndrome 
Vacuolar Neuromyopathy 
visceral heterotaxy +   
Zika virus congenital syndrome 

Synonyms
Exact Synonyms: CMD
Narrow Synonyms: congenital muscular dystrophy, alpha-dystroglycan related
Xrefs: GARD:9138 ;   ICD9CM:359.0 ;   ORDO:97242
Definition Sources: http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/ "DO" "DO", https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page "DO" "DO"

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