epidermal nevus

Summary
Synonym
  • nonepidermolytic keratinocytic nevus
Definition
A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.
Super Class
skin disease
Disease Ontology
DOID:0111162
Mondo Disease Ontology
MeSH
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
2261 FGFR3 fibroblast growth factor receptor 3
3265 HRAS HRas proto-oncogene, GTPase
4893 NRAS NRAS proto-oncogene, GTPase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
The Human Phenotype Ontology
Displaying entries 1 - 10 of 13 in total
HPO ID HPO Term
HP:0002213 Fine hair
HP:0011365 Patchy hypopigmentation of hair
HP:0001100 Heterochromia iridis
HP:0007534 Congenital posterior occipital alopecia
HP:0000826 Precocious puberty
HP:0009917 Persistent pupillary membrane
HP:0002212 Curly hair
HP:0011387 Enlarged vestibular aqueduct
HP:0001156 Brachydactyly
HP:0006304 Widely-spaced incisors
Displaying all 3 entries
Gene ID Gene Symbol Description
3265 HRAS HRas proto-oncogene, GTPase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
4893 NRAS NRAS proto-oncogene, GTPase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025