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Cell Cycle Ontology
Last uploaded:
June 26, 2014
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| Preferred Name | Duchenne muscular dystrophy | |
| Synonyms |
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| Definitions |
(DMD): Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment. |
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| ID |
http://purl.obolibrary.org/obo/OMIM_310200 |
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| definition |
(DMD): Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.
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| has_obo_namespace |
cell_cycle_ontology
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| id |
OMIM:310200
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| label |
Duchenne muscular dystrophy
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| notation |
OMIM:310200
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| prefLabel |
Duchenne muscular dystrophy
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| treeView | ||
| subClassOf |
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