Human Gene Set: HP_ABNORMAL_MUSCLE_FIBER_MORPHOLOGY


Standard name HP_ABNORMAL_MUSCLE_FIBER_MORPHOLOGY
Systematic name M36455
Brief description Abnormal muscle fiber morphology
Full description or abstract Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. [https://orcid.org/0000-0002-0736-9199, PMID:22938878]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0004303
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External links https://hpo.jax.org/app/browse/term/HP:0004303
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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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