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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC		 OMIM
CTD
ClinVar		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 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
CTD Direct Evidence: marker/mechanism
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
CTD		 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC		 OMIM
CTD
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
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 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 21126
    sensory system disease 6948
      skin disease 3966
        epidermal nevus 7
          Nevus Comedonicus 1
Path 2
Term Annotations click to browse term
  disease 21126
    Pathological Conditions, Signs and Symptoms 13335
      Signs and Symptoms 10811
        Neurologic Manifestations 10043
          sensory system disease 6948
            skin disease 3966
              epidermal nevus 7
                Nevus Comedonicus 1
paths to the root