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Medical Imaging and Diagnostic Ontology
Last uploaded:
April 25, 2022
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| Preferred Name | Becker muscular dystrophy | |
| Synonyms |
benign congenital myopathy Benign pseudohypertrophic muscular dystrophy |
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| Definitions |
A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_9883 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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|
| database_cross_reference |
GARD:5900 ORDO:98895 UMLS_CUI:C0699741 OMIM:300376 SNOMEDCT_US_2021_09_01:111501005
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|
| definition |
A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21. OMIM mapping confirmed by DO. [SN].
|
|
| has_exact_synonym |
benign congenital myopathy Benign pseudohypertrophic muscular dystrophy
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| has_obo_namespace |
disease_ontology
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| has_symptom | ||
| IAO_0000115 |
A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21.
|
|
| id |
DOID:9883
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|
| label |
Becker muscular dystrophy
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|
| notation |
DOID:9883
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|
| note |
A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21. OMIM mapping confirmed by DO. [SN].
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|
| prefLabel |
Becker muscular dystrophy
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| subClassOf |
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