Human Gene Set: HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA


Standard name HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA
Systematic name M36338
Brief description Subsarcolemmal accumulations of abnormally shaped mitochondria
Full description or abstract An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0003548
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0003548
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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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