Human Gene Set: HP_NEMALINE_BODIES


Standard name HP_NEMALINE_BODIES
Systematic name M36419
Brief description Nemaline bodies
Full description or abstract Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. [https://orcid.org/0000-0002-0736-9199, PMID:11333380]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0003798
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0003798
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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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