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
Accession: DOID:0111563
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 .
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
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
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
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
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all