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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 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: 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 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910 		JBrowse link
G Fn1 fibronectin 1 ISO mRNA, protein:increased expression:cerebral cortex RGD PMID:12621118 RGD:1358624 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078 		JBrowse link
G Gnaq G protein subunit alpha q ISO ClinVar Annotator: match by term: Sturge-Weber syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23656586 PMID:25188413 PMID:25741868 NCBI chr 1:233,382,778...233,622,584
Ensembl chr 1:233,382,708...233,622,786 		JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by OMIM:608355
ClinVar Annotator: match by term: Parkes Weber syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426 		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 null ClinVar PMID:24375697 NCBI chr15:109,338,762...109,394,905
Ensembl chr15:109,339,564...109,394,927 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      Neurocutaneous Syndromes 151
        Sturge-Weber syndrome 7
          Worster-Drought Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        sensory system disease 5248
          skin disease 2715
            Skin Abnormalities 617
              ectodermal dysplasia 253
                Neurocutaneous Syndromes 151
                  Sturge-Weber syndrome 7
                    Worster-Drought Syndrome 1
paths to the root