Tuberous Sclerosis 2

Preferred Label : Tuberous Sclerosis 2;

NCIt definition : Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).;

Details

Origin ID

C75331;

UMLS CUI

C1860707;

Automatic exact mappings (from CISMeF team)
- TSC complex subunit 2 [ORDO Gene]
- Tuberous sclerosis complex [ORDO Disease]
- tuberous sclerosis [MeSH Descriptor]
- tuberous sclerosis 2 [DO Concept]
Currated CISMeF NLP mapping
- Tuberous sclerosis 2 [OMIM Phenotype]
- tuberous sclerosis 2 [MeSH concept]
- tuberous sclerosis 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tuberous sclerosis 2 [OMIM Phenotype]
- tuberous sclerosis 2 [MeSH Supplementary Concept]
- tuberous sclerosis 2 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_excludes_molecular_abnormality
- BMPR1A Gene Mutation [NCIt concept]
- PTCH1 Gene Mutation [NCIt concept]
- PTEN Gene Mutation [NCIt concept]
- SMAD4 Gene Mutation [NCIt concept]
- STK11 Gene Mutation [NCIt concept]
disease_has_associated_disease
- Hamartoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- TSC2 Gene Inactivation [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 16 [NCIt concept]
disease_mapped_to_gene
- TSC2 Gene [NCIt concept]
disease_may_have_associated_disease
- Cardiac Rhabdomyoma [NCIt concept]
- Central Nervous System Hamartoma [NCIt concept]
- Colorectal Polyp [NCIt concept]
- PEComa [NCIt concept]
- Retinal Astrocytoma [NCIt concept]
- Small Intestinal Hamartoma [NCIt concept]
- Subependymal Giant Cell Astrocytoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- TSC2 Gene [NCIt concept]
- TSC2 wt Allele [NCIt concept]
related_to_genetic_biomarker
- TSC2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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