Human Gene Set: HP_INCREASED_CEREBRAL_LIPOFUSCIN


Standard name HP_INCREASED_CEREBRAL_LIPOFUSCIN
Systematic name M37931
Brief description Increased cerebral lipofuscin
Full description or abstract Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. [https://orcid.org/0000-0002-0736-9199, PMID:9531959]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0011813
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0011813
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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
Dataset references  
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GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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