loading...| Preferred Name |
Sturge-Weber syndrome |
|
| Synonyms |
STURGE-WEBER syndrome SWS type I - Facial and leptomeningeal angiomas SWS type III - isolated leptomeningeal angiomas meningeal capillary angiomatosis SWS type II - Facial angioma alone, no CNS involvement Sturge Weber syndrome fourth phacomatosis leptomeningeal angiomatosis Sturge-Weber syndrome Sturge-Weber syndrome, somatic, mosaic Encephalotrigeminal syndrome Encephalotrigeminal angiomatosis Sturge-Weber-Krabbe syndrome Sturge-Weber-Krabbe angiomatosis SWS Encephalofacial angiomatosis Sturge-Weber disease Sturge-Weber-Dimitri syndrome |
|
| Definitions |
Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008501 |
|
| altLabel |
STURGE-WEBER syndrome SWS type I - Facial and leptomeningeal angiomas SWS type III - isolated leptomeningeal angiomas meningeal capillary angiomatosis SWS type II - Facial angioma alone, no CNS involvement Sturge Weber syndrome fourth phacomatosis leptomeningeal angiomatosis Sturge-Weber syndrome Sturge-Weber syndrome, somatic, mosaic Encephalotrigeminal syndrome Encephalotrigeminal angiomatosis Sturge-Weber-Krabbe syndrome Sturge-Weber-Krabbe angiomatosis SWS Encephalofacial angiomatosis Sturge-Weber disease Sturge-Weber-Dimitri syndrome |
|
| definition |
Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. |
|
| disease has feature | ||
| has_exact_synonym |
Sturge-Weber syndrome Sturge-Weber syndrome, somatic, mosaic Encephalotrigeminal syndrome Encephalotrigeminal angiomatosis Sturge-Weber-Krabbe syndrome Sturge-Weber-Krabbe angiomatosis SWS Encephalofacial angiomatosis Sturge-Weber disease Sturge-Weber-Dimitri syndrome |
|
| has_related_synonym |
STURGE-WEBER syndrome SWS type I - Facial and leptomeningeal angiomas SWS type III - isolated leptomeningeal angiomas meningeal capillary angiomatosis SWS type II - Facial angioma alone, no CNS involvement Sturge Weber syndrome fourth phacomatosis leptomeningeal angiomatosis |
|
| IAO_0000233 | ||
| label |
Sturge-Weber syndrome |
|
| prefixIRI |
MONDO:0008501 |
|
| prefLabel |
Sturge-Weber syndrome |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome |
|
| textual definition |
Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. |
|
| subClassOf |