Human Gene Set: HP_ABNORMAL_CIRCULATING_ACYLCARNITINE_CONCENTRATION


Standard name HP_ABNORMAL_CIRCULATING_ACYLCARNITINE_CONCENTRATION
Systematic name M38001
Brief description Abnormal circulating acylcarnitine concentration
Full description or abstract Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. [https://orcid.org/0000-0002-0736-9199, PMID:18281923, PMID:23258903, PMID:6348429]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0012071
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0012071
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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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