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loading...| Preferred Name | Melanocytic nevus syndrome, congenital | |
| Synonyms |
Giant pigmented hairy nevus Giant congenital pigmented nevus |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536819 |
|
| altLabel |
Giant pigmented hairy nevus Giant congenital pigmented nevus |
|
| cui |
C1842036 |
|
| HM |
D012878 D009508 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
107 |
|
| MMR |
20160929 |
|
| notation |
C536819 |
|
| prefLabel |
Melanocytic nevus syndrome, congenital |
|
| SC |
3 |
|
| Scope Statement |
Pigmented nevi present from birth that usually include one or more giant lesions greater than 20 cm and up to over 60 cm in diameter that mar or may not be hairy; individuals with very large nevi are at higher risk for developing MELANOMA. Numerous smaller nevi may also occur over most of the body. Associated with mutations in the NRAS gene. OMIM: 137550 |
|
| TERMUI |
T000906170 T740538 T000906169 |
|
| TH |
OMIM (2013) OMIM (2016) ORD (2010) |
|
| tui |
T191 |
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