Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
tuberous sclerosis +     
Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis  
tuberous sclerosis 1  
tuberous sclerosis 2  
A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13. (DO)

Synonyms
Exact Synonyms: TSC2
Narrow Synonyms: TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF
Primary IDs: MESH:C566021
Alternate IDs: MIM:613254
Xrefs: NCI:C75331
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/28667702 "DO" "DO", https://www.omim.org/entry/613254 "DO" "DO"

paths to the root