Human Gene Set: HP_ABNORMALITY_OF_DERMAL_MELANOSOMES


Standard name HP_ABNORMALITY_OF_DERMAL_MELANOSOMES
Systematic name M37779
Brief description Abnormality of dermal melanosomes
Full description or abstract An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis). [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0011125
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0011125
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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 2023.1.Hs: Updated to HPO Release 2023-01-27.

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