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Ontology Browser

Term:
congenital muscular dystrophy (DOID:0050557)
Annotations: Rat: (70) Mouse: (70) Human: (79) Chinchilla: (68) Bonobo: (69) Dog: (68) Squirrel: (69) Pig: (69)
Parent Terms Term With Siblings Child Terms
genetic disease +     
muscular dystrophy +     
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
Alpha-B Crystallinopathy with Cataract 
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
apparent mineralocorticoid excess syndrome  
Aquaporin 1 Deficiency 
aspartylglucosaminuria  
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
Bassoe Syndrome 
Becker muscular dystrophy +   
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
CADASIL +   
CAKUT2  
cataract 23  
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Cenani-Lenz syndactyly syndrome  
CHARGE syndrome  
chromosomal disease +   
complement factor I deficiency  
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
complex cortical dysplasia with other brain malformations 7  
congenital diarrhea +   
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
congenital hypoplastic anemia +   
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
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 Pain Insensitivity +   
desquamative interstitial pneumonia  
distal myopathy +   
Duchenne muscular dystrophy +   
Dwarfism +   
Emery-Dreifuss muscular dystrophy +   
facioscapulohumeral muscular dystrophy +   
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
frontotemporal dementia and/or amyotrophic lateral sclerosis-3  
frontotemporal dementia and/or amyotrophic lateral sclerosis-4  
Genetic Skin Diseases +   
glycogen storage disease VII  
hereditary angioedema +   
Hereditary Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
hypogonadotropic hypogonadism 5 with or without anosmia +   
inherited metabolic disorder +   
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Laminopathies  
Lennox-Gastaut syndrome  
limb-girdle muscular dystrophy +   
Marfan syndrome +   
monogenic disease +   
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 +   
Nervous System Heredodegenerative Disorders +   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
oculopharyngeal muscular dystrophy +   
Oculopharyngodistal Myopathy +   
osteochondrodysplasia +   
polygenic disease +   
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
Progressive Muscular Dystrophy, Pectorodorsal 
pulmonary alveolar microlithiasis  
Sacral Agenesis with Vertebral Anomalies  
scapuloperoneal myopathy +   
Vacuolar Neuromyopathy 
yellow nail 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", https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.