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BioAssay Ontology
Last uploaded:
February 21, 2024
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| Preferred Name | Duchenne muscular dystrophy | |
| Synonyms |
Muscular dystrophy, Duchenne |
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| 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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| comment |
OMIM mapping confirmed by DO. [SN].
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| database_cross_reference |
OMIM:310200 MESH:D020388 SNOMEDCT_US_2020_03_01:155095006 UMLS_CUI:C0013264 GARD:6291 NCI:C75482
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| has exact synonym |
Muscular dystrophy, Duchenne
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| has_obo_namespace |
disease_ontology
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| id |
DOID:11723
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| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
|
| label |
Duchenne muscular dystrophy
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|
| notation |
DOID:11723
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| prefLabel |
Duchenne muscular dystrophy
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|
| textual 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.
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| subClassOf |
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