Human Gene Set: HP_ALBINISM


Standard name HP_ALBINISM
Systematic name M35082
Brief description Albinism
Full description or abstract An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). [https://orcid.org/0009-0006-4530-3154]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0001022
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0001022
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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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