ONTOLOGY REPORT - ANNOTATIONS


Term:Sebaceous Nevus of Jadassohn
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Accession:DOID:9000803 term browser browse the term
Definition:A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.
Synonyms:exact_synonym: Feuerstein Mims Syndrome;   Inflammatory Linear Verrucose Epidermal Nevus;   Inflammatory Linear Verrucous Epidermal Naevus;   JNP;   Jadassohn Nevus Phakomatosis;   Jadassohn Nevus Sebaceus;   Jadassohn Sebaceous Nevus;   Linear Sebaceous Nevus;   Linear Sebaceous Nevus Syndrome;   Linear Verrucous Epidermal Nevus;   Nevus Sebaceus of Jadassohn;   Organoid Nevus Phakomatoses;   Organoid Nevus Phakomatosis;   SFM;   SFM Syndrome;   Schimmelpenning Feuerstein Mims Syndrome;   Schimmelpenning Syndrome;   Verrucous Epidermal Nevus;   epidermal nevus syndrome;   verrucous nevus
 primary_id: MESH:D054000
 alt_id: OMIM:163200;   RDO:0001556
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Sebaceous Nevus of Jadassohn term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:7240710
RGD:8554872
RGD:11098548
RGD:11554173
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:7240710
RGD:8554872
RGD:11554173
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:7240710
RGD:8554872
Sebaceous Nevus Syndrome and Hemimegalencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:8554872
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Neurocutaneous Syndromes 65
        Sebaceous Nevus of Jadassohn 4
          Sebaceous Nevus Syndrome and Hemimegalencephaly 4
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Genetic Skin Diseases 580
              ectodermal dysplasia 142
                Neurocutaneous Syndromes 65
                  Sebaceous Nevus of Jadassohn 4
                    Sebaceous Nevus Syndrome and Hemimegalencephaly 4
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.