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MIRAGE
tuberous sclerosis

Summary
Synonym
  • Bourneville's disease
  • Epiloia
  • Tuberose sclerosis
  • Tuberous sclerosis complex
  • Tuberous sclerosis syndrome
  • cerebral sclerosis
Definition
A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
Super Class
autosomal dominant disease syndrome
Disease Ontology
DOID:13515
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
7248 TSC1 TSC complex subunit 1
7249 TSC2 TSC complex subunit 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
64930 Tsc1 TSC complex subunit 1
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P49815 Tuberin
Q92574 Hamartin
Displaying 1 entry
UniProt ID Protein Name Source
Q9EP53 Hamartin
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025