Preferred Name

NEVUS, EPIDERMAL

Synonyms

NEVUS SEBACEOUS

ID

http://purl.bioontology.org/ontology/OMIM/162900

altLabel

NEVUS SEBACEOUS

NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC

NEVUS, WOOLLY HAIR

cui

C3854181

C0334082

C0343114

C4011754

Gene Locus

11p15.5

Gene Symbol

HRAS

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU067305

http://purl.bioontology.org/ontology/OMIM/MTHU048643

http://purl.bioontology.org/ontology/OMIM/MTHU013083

http://purl.bioontology.org/ontology/OMIM/MTHU067306

http://purl.bioontology.org/ontology/OMIM/MTHU067304

http://purl.bioontology.org/ontology/OMIM/MTHU067307

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 NRAS proto-oncogene, GTPase gene (NRAS, 164790.0002) [MOLECULAR BASIS]

Caused by somatic mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0001) [MOLECULAR BASIS]

Caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (PIK3CA, 171834.0004) [MOLECULAR BASIS]

Caused by somatic mutation in the HRas proto-oncogene, GTPase gene (HRAS, 190020.0001) [MOLECULAR BASIS]

tui

T191

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0008093 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008093 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/C580062 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C580062 Medical Subject Headings / 医学主题词表 CUI