Human Gene Set: HP_MUSCULAR_DYSTROPHY


Standard name HP_MUSCULAR_DYSTROPHY
Systematic name M36345
Brief description Muscular dystrophy
Full description or abstract 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. [https://orcid.org/0000-0001-9046-3540, https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0003560
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0003560
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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