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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
tuberous sclerosis +     
Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 
Renal TSC2 Angiomyolipomas, Modifier of 
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: OMIM:613254
Xrefs: NCI:C75331
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/28667702 "DO", https://www.omim.org/entry/613254 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.