loading...| Preferred Name | NEVUS, EPIDERMAL | |
| Synonyms |
NEVUS, WOOLLY HAIR NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC NEVUS SEBACEOUS |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/162900 |
|
| altLabel |
NEVUS, WOOLLY HAIR NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC NEVUS SEBACEOUS |
|
| cui |
C0343114 C4011754 C3854181 C0334082 |
|
| Gene Locus |
11p15.5 |
|
| Gene Symbol |
HRAS |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU048643 http://purl.bioontology.org/ontology/OMIM/MTHU067304 http://purl.bioontology.org/ontology/OMIM/MTHU067306 http://purl.bioontology.org/ontology/OMIM/MTHU067305 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
162900 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
NEVUS, EPIDERMAL |
|
| Scope Statement |
Caused by somatic mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0001) [MOLECULAR BASIS] Caused by somatic mutation in the NRAS proto-oncogene, GTPase gene (NRAS, 164790.0002) [MOLECULAR BASIS] Caused by somatic mutation in the HRas proto-oncogene, GTPase gene (HRAS, 190020.0001) [MOLECULAR BASIS] Caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (PIK3CA, 171834.0004) [MOLECULAR BASIS] |
|
| tui |
T047 T191 |