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Muscular dystrophy

^ http://purl.obolibrary.org/obo/HP_0003560


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. [ Neuromics:vstraub HPO:probinson ]

Term info

database cross reference
  • MSH:D009136
  • UMLS:C0026850
  • UMLS:C1864711
  • SNOMEDCT_US:73297009
  • SNOMEDCT_US:193225000
comment

Muscular dystrophy can be demonstrated by muscle biopsy.

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:0003806, HP:0003544

has related synonym

Muscle biopsy shows dystrophic changes

id

HP:0003560

Term relations