Human Gene Set: HP_HYPOMELANOTIC_MACULE


Standard name HP_HYPOMELANOTIC_MACULE
Systematic name M43367
Brief description Hypomelanotic macule
Full description or abstract Hypomelanotic macules (\ash leaf spots\) are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis. [https://orcid.org/0000-0002-0736-9199, PMID:10695583]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0009719
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0009719
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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
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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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