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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:Sturge-Weber syndrome
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Accession:DOID:0111563 term browser browse the term
Definition:A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in GNAQ on chromosome 9q21.2. (DO)
Synonyms:exact_synonym: Neuroretinoangiomatosis;   PKWS;   Parkes Weber Syndrome;   SWS;   Sturge Disease;   Sturge Kalischer Weber Syndrome;   Sturge Weber Dimitri syndrome;   Sturge Weber Krabbe syndrome;   Sturge syndrome;   Sturge's Syndrome;   Sturge-Weber phakomatosis;   Sturge-Weber-Krabbe angiomatosis;   angiomatosis oculoorbital-thalamic syndrome;   encephalofacial angiomatosis;   encephalofacial hemangiomatosis syndrome;   encephalotrigeminal angiomatosis;   fourth phacomatosis;   leptomeningeal angiomatosis;   meningeal capillary angiomatosis;   meningo oculo facial angiomatosis;   meningofacial angiomatosis-cerebral calcification syndrome
 primary_id: MESH:D013341
 alt_id: OMIM:185300;   OMIM:608355
 xref: GARD:7706;   NCI:C3391;   ORDO:3205
For additional species annotation, visit the Alliance of Genome Resources.


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Sturge-Weber syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:15,834,833...15,855,643
Ensembl chr 2:15,834,833...15,855,819 		JBrowse link
G Fn1 fibronectin 1 ISO mRNA, protein:increased expression:cerebral cortex RGD PMID:12621118 RGD:1358624 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sturge-Weber syndrome		 OMIM
CTD
ClinVar		 PMID:23656586 PMID:25188413 PMID:25741868 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672 		JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854 		JBrowse link
Worster-Drought Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Worster-Drought syndrome ClinVar PMID:24375697 NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      Neurocutaneous Syndromes 260
        Sturge-Weber syndrome 7
          Worster-Drought Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        sensory system disease 6555
          skin disease 3762
            Skin Abnormalities 1054
              ectodermal dysplasia 414
                Neurocutaneous Syndromes 260
                  Sturge-Weber syndrome 7
                    Worster-Drought Syndrome 1
paths to the root