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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 the GNAQ gene 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

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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:24038909 PMID:25741868 PMID:27081547 PMID:28492532 PMID:28655553 More... NCBI chrNW_004936469:5,933,163...5,952,190
Ensembl chrNW_004936469:5,935,131...5,952,460 		JBrowse link
G Fn1 fibronectin 1 ISO mRNA, protein:increased expression:cerebral cortex RGD PMID:12621118 RGD:1358624 NCBI chrNW_004936586:1,708,803...1,773,372
Ensembl chrNW_004936586:1,708,684...1,773,383 		JBrowse link
G LOC101971998 guanine nucleotide-binding protein G(q) subunit alpha ISO ClinVar Annotator: match by term: Sturge-Weber syndrome OMIM
ClinVar		 PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chrNW_004936503:13,098,517...13,276,106
Ensembl chrNW_004936503:13,099,558...13,276,152 		JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:25741868 NCBI chrNW_004936471:26,589,251...26,628,302
Ensembl chrNW_004936471:26,589,161...26,628,302 		JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:27081547 More... NCBI chrNW_004936469:5,839,560...5,933,049
Ensembl chrNW_004936469:5,839,743...5,932,021 		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 chrNW_004936472:10,062,811...10,114,356
Ensembl chrNW_004936472:10,062,827...10,113,238 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      Neurocutaneous Syndromes 337
        Sturge-Weber syndrome 8
          Worster-Drought Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        Neurologic Manifestations 9046
          sensory system disease 6279
            skin disease 3576
              Genetic Skin Diseases 1737
                ectodermal dysplasia 506
                  Neurocutaneous Syndromes 337
                    Sturge-Weber syndrome 8
                      Worster-Drought Syndrome 1
paths to the root