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linear nevus sebaceous syndrome - Ontology Report - Rat Genome Database

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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:linear nevus sebaceous syndrome
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Accession:DOID:0111530 term browser browse the term
Definition:A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. (DO)
Synonyms:exact_synonym: Feuerstein Mims syndrome;   JNP;   Jadassohn Nevus Phakomatosis;   Jadassohn Nevus Sebaceus;   Jadassohn Sebaceous Nevus;   Linear Sebaceous Nevus;   Linear Verrucous Epidermal Nevus;   Nevus Sebaceus of Jadassohn;   Organoid Nevus Phakomatoses;   Organoid Nevus Phakomatosis;   SFM;   SFM syndrome;   Schimmelpenning Feuerstein Mims Syndrome;   Schimmelpenning Syndrome;   Solomon syndrome;   epidermal nevus syndrome;   inflammatory linear verrucose epidermal nevus;   inflammatory linear verrucous epidermal naevus;   nevus sebaceus syndrome;   organoid nevus syndrome;   sebaceous nevus of Jadassohn;   verrucous epidermal nevus;   verrucous nevus
 primary_id: MESH:D054000
 alt_id: MIM:163200
 xref: EFO:1001841;   GARD:10291;   ORDO:2612

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linear nevus sebaceous syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:c.37G>C(p.G13R)(human)
ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis		 OMIM
CTD
ClinVar
RGD		 PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... RGD:11098548 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome
ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Organoid nevus phakomatosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1875403 PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 More... NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Linear nevus sebaceous
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1654209 PMID:6587382 PMID:12727991 PMID:14508525 PMID:18633438 More... NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
Sebaceous Nevus Syndrome and Hemimegalencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:1875403 PMID:7773929 PMID:8439212 PMID:12110640 PMID:12720172 More... NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:1654209 PMID:6587382 PMID:12727991 PMID:14508525 PMID:18633438 More... NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      Neurocutaneous Syndromes 365
        linear nevus sebaceous syndrome 4
          Sebaceous Nevus Syndrome and Hemimegalencephaly 4
Path 2
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            skin disease 4322
              Genetic Skin Diseases 1891
                ectodermal dysplasia 550
                  Neurocutaneous Syndromes 365
                    linear nevus sebaceous syndrome 4
                      Sebaceous Nevus Syndrome and Hemimegalencephaly 4
paths to the root