Human Gene Set: HP_ABNORMAL_Z_DISK_MORPHOLOGY


Standard name HP_ABNORMAL_Z_DISK_MORPHOLOGY
Systematic name M43454
Brief description Abnormal Z disk morphology
Full description or abstract Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. [PMID:22028589]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0020202
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0020202
Filtered by similarity ? (show 1 similar ontology term(s) from the external resource)
Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace
Human_NCBI_Gene_ID
Dataset references  
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GTEx compendium
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NCI-60 cell lines (National Cancer Institute)
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Version history 2024.1.Hs: Renamed from HP_ABNORMAL_Z_DISC_MORPHOLOGY. Updated to HPO Release 2024-04-26.

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