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Drug Target Ontology
Last uploaded:
February 15, 2018
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| Preferred Name | Duchenne muscular dystrophy | |
| Synonyms |
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| Definitions |
A muscular dystrophy that has_material_basis_in X-linked disease that has material basis in 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. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_11723 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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| definition |
A muscular dystrophy that has_material_basis_in X-linked disease that has material basis in 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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| hasDbXref |
NCI:C75482 OMIM:310200 SNOMEDCT_US_2016_03_01:129619006 SNOMEDCT_US_2016_03_01:387732009 MESH:D020388 SNOMEDCT_US_2016_03_01:155095006 SNOMEDCT_US_2016_03_01:76670001 UMLS_CUI:C0013264 SNOMEDCT_US_2016_03_01:267712004
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| hasExactSynonym |
Muscular dystrophy, Duchenne
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| hasOBONamespace |
disease_ontology
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| id |
DOID:11723
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| imported from | ||
| inSubset | ||
| label |
Duchenne muscular dystrophy
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| prefixIRI |
DOID:11723
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| prefLabel |
Duchenne muscular dystrophy
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| subClassOf |
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