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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:epidermal nevus
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Accession:DOID:0111162 term browser browse the term
Definition:A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth. (DO)
Synonyms:exact_synonym: epidermal naevus;   nonepidermolytic keratinocytic nevus
 narrow_synonym: NEVUS SEBACEOUS;   NEVUS, WOOLLY HAIR
 primary_id: MESH:C580062
 alt_id: OMIM:162900
For additional species annotation, visit the Alliance of Genome Resources.



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epidermal nevus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC OMIM
ClinVar
PMID:1908846 PMID:7649548 PMID:7670477 PMID:7773297 PMID:7847369 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous | ClinVar Annotator: match by term: Woolly hair nevus OMIM
ClinVar
PMID:2105486 PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous ClinVar PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous | ClinVar Annotator: match by term: Woolly hair nevus ClinVar PMID:2105486 PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC OMIM
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC OMIM
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
Nevus Comedonicus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Nevus comedonicus ClinVar
OMIM
PMID:27153399 NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      skin disease 3754
        epidermal nevus 7
          Nevus Comedonicus 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of cellular proliferation 7258
      Neoplasms by Histologic Type 4970
        Nevi and Melanomas 350
          Nevus 21
            epidermal nevus 7
              Nevus Comedonicus 1
paths to the root