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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;   Keratinocytic Nevus, Nonepidermolytic
 narrow_synonym: NEVUS SEBACEOUS;   NEVUS, WOOLLY HAIR
 primary_id: MESH:C580062
 alt_id: OMIM:162900;   RDO:0012323;   RDO:0015884
For additional species annotation, visit the Alliance of Genome Resources.


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: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC OMIM
ClinVar
PMID:1908846, PMID:7649548, PMID:7773297, PMID:7913883, PMID:8078586, PMID:8589699, PMID:8673103, PMID:8845844, PMID:8858131, PMID:9677066, PMID:10073901, PMID:10471491, PMID:10696568, PMID:11030304, PMID:11038465, PMID:11055896, PMID:11186939, PMID:11186940, PMID:11241532, PMID:11529856, PMID:11879084, PMID:12833394, PMID:15517832, PMID:15772091, PMID:16766665, PMID:16841094, PMID:17384684, PMID:17875876, PMID:18266238, PMID:18583390, PMID:18642369, PMID:19381019, PMID:19749790, PMID:20624921, PMID:21324899, PMID:21739570, PMID:22045636, PMID:25157968, PMID:25606676, PMID:25614871, PMID:25691418, PMID:25741868, PMID:25809207, PMID:26619011, PMID:26818779, PMID:28492532, PMID:30311386 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Nevus sebaceous
ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
ClinVar Annotator: match by term: Nevus, woolly hair
OMIM
ClinVar
PMID:2105486, PMID:2999610, PMID:3537694, PMID:6092966, PMID:6330729, PMID:7177195, PMID:8960317, PMID:11150980, PMID:12210337, PMID:12835555, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:16881968, PMID:16969868, PMID:17054105, PMID:17211612, PMID:17250658, PMID:17384584, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18042262, PMID:18247425, PMID:18470943, PMID:18642361, PMID:18978862, PMID:19206176, PMID:19213030, PMID:19255327, PMID:19371735, PMID:19382114, PMID:19669404, PMID:19773371, PMID:20658932, PMID:20660566, PMID:20979192, PMID:21344638, PMID:21438134, PMID:21495179, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22926243, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23751039, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25741868, PMID:25914166, PMID:26619011, PMID:26916728, PMID:27102959, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759, PMID:168335863 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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:3122217, PMID:7773929, PMID:8439212, PMID:12460918, PMID:15696205, PMID:15842656, PMID:16361624, PMID:16434492, PMID:16618717, PMID:17332249, PMID:17384584, PMID:17704260, PMID:17910045, PMID:18316791, PMID:18794081, PMID:19018267, PMID:19029981, PMID:19047918, PMID:19075190, PMID:19114683, PMID:19255327, PMID:19358724, PMID:19679400, PMID:19773371, PMID:19881948, PMID:20609353, PMID:20805368, PMID:20921462, PMID:20921465, PMID:20949522, PMID:21079152, PMID:21169357, PMID:21228335, PMID:21398618, PMID:21975775, PMID:22025163, PMID:22235099, PMID:22407852, PMID:22499344, PMID:22683711, PMID:22897852, PMID:23014527, PMID:23096712, PMID:23406027, PMID:24033266, PMID:25044103, PMID:25157968, PMID:25695684, PMID:26372703, PMID:28492532, PMID:29298116, PMID:31891627 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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: Nevus, woolly hair
ClinVar PMID:2105486, PMID:2999610, PMID:3537694, PMID:6092966, PMID:6330729, PMID:7177195, PMID:8960317, PMID:11150980, PMID:12210337, PMID:12835555, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:16881968, PMID:16969868, PMID:17054105, PMID:17211612, PMID:17250658, PMID:17384584, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18042262, PMID:18247425, PMID:18470943, PMID:18642361, PMID:18978862, PMID:19206176, PMID:19213030, PMID:19255327, PMID:19371735, PMID:19382114, PMID:19669404, PMID:19773371, PMID:20658932, PMID:20660566, PMID:20979192, PMID:21344638, PMID:21438134, PMID:21495179, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22926243, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23751039, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25741868, PMID:25914166, PMID:26619011, PMID:26916728, PMID:27102959, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759, PMID:168335863 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
ClinVar Annotator: match by OMIM:162900
OMIM
ClinVar
PMID:1654209, PMID:2278970, PMID:2674680, PMID:3122217, PMID:6587382, PMID:8120410, PMID:12460918, PMID:12727991, PMID:14508525, PMID:16273091, PMID:16291983, PMID:16434492, PMID:17332249, PMID:17699718, PMID:18390968, PMID:18633438, PMID:18948947, PMID:19075190, PMID:19657110, PMID:19880792, PMID:20130576, PMID:20179705, PMID:20619739, PMID:20736745, PMID:21107323, PMID:21305640, PMID:21576590, PMID:21729679, PMID:21829508, PMID:22144181, PMID:22407852, PMID:22499344, PMID:22761467, PMID:22773810, PMID:23392294, PMID:23414587, PMID:23515407, PMID:23538902, PMID:23569304, PMID:23614898, PMID:24006476, PMID:24033266, PMID:24284627, PMID:25157968, PMID:26619011 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC OMIM
ClinVar
PMID:15016963, PMID:15254419, PMID:15520168, PMID:15647370, PMID:15805248, PMID:17376864, PMID:17673550, PMID:18676830, PMID:18725974, PMID:19366826, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21824802, PMID:22162582, PMID:22162589, PMID:22729224, PMID:24033266, PMID:24265155, PMID:25157968, PMID:25741868, PMID:26619011, PMID:27631024, PMID:28492532 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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 6:109,121,524...109,162,433
Ensembl chr 6:109,124,330...109,162,267
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      skin disease 2758
        epidermal nevus 7
          Nevus Comedonicus 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of cellular proliferation 5917
      Neoplasms by Histologic Type 3728
        Nevi and Melanomas 334
          Nevus 18
            epidermal nevus 7
              Nevus Comedonicus 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.