loading...| Preferred Name | Muscular dystrophy | |
| Synonyms |
Congenital muscular dystrophy Muscle biopsy shows dystrophic changes |
|
| Definitions |
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. Muscular dystrophy can be demonstrated by muscle biopsy. |
|
| ID |
http://purl.obolibrary.org/obo/HP_0003560 |
|
| comment |
Muscular dystrophy can be demonstrated by muscle biopsy. |
|
| database_cross_reference |
UMLS:C0026850 UMLS:C1864711 SNOMEDCT_US:193225000 SNOMEDCT_US:73297009 |
|
| definition |
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. |
|
| has_alternative_id |
HP:0003544 HP:0003741 HP:0003793 HP:0003806 HP:0007081 |
|
| has_narrow_synonym |
Congenital muscular dystrophy |
|
| has_related_synonym |
Muscle biopsy shows dystrophic changes |
|
| id |
HP:0003560 |
|
| label |
Muscular dystrophy |
|
| notation |
HP:0003560 |
|
| preferred label |
Muscular dystrophy |
|
| prefLabel |
Muscular dystrophy |
|
| subClassOf |