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Standards Ontologies Notations
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
OMIM
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
Displaying 1 entry
Gene ID Gene Symbol Description Source
18706 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
170911 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
Displaying all 2 entries
Gene ID Gene Symbol Description Source
39564 btl breathless
42160 htl heartless
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
399347 fgfr3.S fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) S homeolog Xenopus laevis (African clawed frog)
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
4893 NRAS NRAS proto-oncogene, GTPase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
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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: December 9, 2024