ONTOLOGY REPORT - ANNOTATIONS


Term:Sturge-Weber Syndrome
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Accession:DOID:9008218 term browser browse the term
Definition:A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.
Synonyms:exact_synonym: Encephalofacial Hemangiomatosis Syndrome;   Meningo Oculo Facial Angiomatosis;   Meningofacial Angiomatosis-Cerebral Calcification Syndrome;   Neuroretinoangiomatosis;   PKWS;   Parkes Weber Syndrome;   SWS;   Sturge Disease;   Sturge Kalischer Weber Syndrome;   Sturge Syndrome;   Sturge Weber Dimitri Syndrome;   Sturge Weber Krabbe Syndrome;   Sturge's Syndrome;   Sturge-Weber phakomatosis;   angiomatosis oculoorbital-thalamic syndrome
 primary_id: MESH:D013341
 alt_id: OMIM:185300;   OMIM:608355;   RDO:0002421
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Sturge-Weber Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnh cyclin H JBrowse link 2 13,593,100 13,613,910 RGD:8554872
G Fn1 fibronectin 1 JBrowse link 9 78,900,111 78,969,018 RGD:1358624
G Gnaq G protein subunit alpha q JBrowse link 1 233,382,778 233,622,584 RGD:7240710
RGD:8554872
RGD:11554173
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:13204823
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204823
G Rasa1 RAS p21 protein activator 1 JBrowse link 2 13,617,021 13,696,531 RGD:8554872
Worster Drought Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmtc4 transmembrane and tetratricopeptide repeat containing 4 JBrowse link 15 109,338,762 109,394,905 RGD:8554872

Term paths to the root
Path 1
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  disease 14920
    syndrome 4714
      Neurocutaneous Syndromes 65
        Sturge-Weber Syndrome 7
          Worster Drought Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        sensory system disease 4265
          skin disease 2268
            Genetic Skin Diseases 582
              ectodermal dysplasia 144
                Neurocutaneous Syndromes 65
                  Sturge-Weber Syndrome 7
                    Worster Drought Syndrome 1
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