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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Duchenne Muscular Dystrophy | |
| Synonyms |
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| Definitions |
An X-linked inherited disorder caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C75482 |
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| ALT_DEFINITION |
An X-linked genetic disorder caused by a mutation in the dystrophin gene characterized by early onset, rapidly progressive skeletal muscle weakness and atrophy initially involving the lower extremities that eventually affect the entire body including respiratory and cardiac muscles.
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| code |
C75482
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| Contributing_Source |
Cellosaurus ACC/AHA
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| definition |
An X-linked inherited disorder caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
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| in_subset | ||
| label |
Duchenne Muscular Dystrophy
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| Legacy Concept Name |
Duchenne_Muscular_Dystrophy
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| Preferred_Name |
Duchenne Muscular Dystrophy
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| prefixIRI |
NCIT:C75482
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| prefLabel |
Duchenne Muscular Dystrophy
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0013264
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| subClassOf |
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