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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | Duchenne muscular dystrophy | |
| Synonyms |
Muscular dystrophy, Duchenne |
|
| Definitions |
A muscular dystrophy that has_material_basis_in X-linked 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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| Obsolete |
true |
|
| comment |
OMIM mapping confirmed by DO. [SN].
|
|
| alternative label |
Muscular dystrophy, Duchenne
|
|
| database_cross_reference |
OMIM:310200 MESH:D020388 UMLS_CUI:C0013264 SNOMEDCT_US_2023_03_01:155095006 GARD:6291 NCI:C75482
|
|
| definition |
A muscular dystrophy that has_material_basis_in X-linked 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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|
| has exact synonym |
Muscular dystrophy, Duchenne
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|
| has material basis in | ||
| has symptom | ||
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:11723
|
|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
| label |
Duchenne muscular dystrophy
|
|
| notation |
DOID:11723
|
|
| note |
A muscular dystrophy that has_material_basis_in X-linked 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].
|
|
| owl:deprecated |
true
|
|
| preferred label |
Duchenne muscular dystrophy
|
|
| prefLabel |
Duchenne muscular dystrophy
|
|
| subClassOf |
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