loading...| 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]. |
| ID |
http://purl.obolibrary.org/obo/DOID_11723 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
SNOMEDCT_US_2022_09_01:155095006 NCI:C75482 GARD:6291 OMIM:310200 UMLS_CUI:C0013264 MESH:D020388 |
| 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. |
| has exact synonym |
Muscular dystrophy, Duchenne |
| has material basis in | |
| has symptom | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:11723 |
| in_subset |
http://purl.obolibrary.org/obo/doid#DO_rare_slim |
| label |
Duchenne muscular dystrophy |
| notation |
DOID:11723 |
| prefLabel |
Duchenne muscular dystrophy |
| subClassOf |