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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


show annotations for term's descendants           Sort by:
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:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		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: 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 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		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 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		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 2:303,836...323,701
Ensembl chr 2:304,430...323,699 		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 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		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 OMIM
ClinVar		 PMID:27153399 NCBI chr 7:98,275,973...98,322,072
Ensembl chr 7:98,275,979...98,322,055 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    sensory system disease 6507
      skin disease 3703
        epidermal nevus 7
          Nevus Comedonicus 1
Path 2
Term Annotations click to browse term
  disease 17412
    Pathological Conditions, Signs and Symptoms 11799
      Signs and Symptoms 9738
        Neurologic Manifestations 9418
          sensory system disease 6507
            skin disease 3703
              epidermal nevus 7
                Nevus Comedonicus 1
paths to the root