Tuberous Sclerosis Complex and Related Disorders leaf node


URI

https://openalex.org/T12049

Label

Tuberous Sclerosis Complex and Related Disorders

Description

This cluster of papers focuses on Tuberous Sclerosis Complex (TSC) and related disorders, including Lymphangioleiomyomatosis and Angiomyolipoma. It covers various aspects such as genetic mutations, neurological manifestations, use of mTOR inhibitors, diagnostic criteria, and the role of hamartin and tuberin proteins. Additionally, it explores the association with epilepsy and cognitive impairment.

Implementation

@prefix oasubfields: <https://openalex.org/subfields/> .
@prefix openalex: <https://lambdamusic.github.io/openalex-hacks/ontology/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

<https://openalex.org/T12049> a skos:Concept ;
    rdfs:label "Tuberous Sclerosis Complex and Related Disorders"@en ;
    rdfs:isDefinedBy openalex: ;
    owl:sameAs <https://en.wikipedia.org/wiki/Tuberous_sclerosis>,
        <https://openalex.org/T12049> ;
    skos:broader oasubfields:2737 ;
    skos:definition "This cluster of papers focuses on Tuberous Sclerosis Complex (TSC) and related disorders, including Lymphangioleiomyomatosis and Angiomyolipoma. It covers various aspects such as genetic mutations, neurological manifestations, use of mTOR inhibitors, diagnostic criteria, and the role of hamartin and tuberin proteins. Additionally, it explores the association with epilepsy and cognitive impairment."@en ;
    skos:inScheme openalex: ;
    skos:prefLabel "Tuberous Sclerosis Complex and Related Disorders"@en ;
    openalex:cited_by_count 316093 ;
    openalex:works_count 22162 .