loading...| Preferred Name |
Epidermal Nevus |
| Synonyms |
Nevus, Keratinocytic, Nonepidermolytic |
| ID |
http://purl.bioontology.org/ontology/MESH/C580062 |
| altLabel |
Nevus, Keratinocytic, Nonepidermolytic Nevus, Epidermal Epidermal Naevus |
| cui |
C0334082 C4011754 |
| HM |
D009506 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20131024 |
| MeSH Frequency |
135 |
| MMR |
20160707 |
| notation |
C580062 |
| prefLabel |
Epidermal Nevus |
| SC |
3 |
| Scope Statement |
Congenital lesions that affect about 1 in 1,000 people and appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko (normally invisible lines of cell development in the skin that follow a "V" shape over the back, "S" shaped whirls over the chest, and sides, and wavy shapes on the head.). They can result from post-zygotic, somatic mutations in the KRAS, HRAS, NRAS, FGFR3, or PIK3CA genes. OMIM: 162900 |
| TERMUI |
T841330 T801394 T841331 T801395 |
| TH |
OMIM (2013) GHR (2014) |
| tui |
T191 T047 |