OBO ID: DOID:0080325
Term Name: tuberous sclerosis 2 Search Ontology:
Synonyms:
Definition: 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. (2)
References:
Ontology: Human Disease   ( DOID:0080325 )
OTHER tuberous sclerosis 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IFNG {TSC2 angiomyolipomas, renal, modifier of} 613254
TSC2 Tuberous sclerosis-2 613254
ZEBRAFISH MODELS
Fish Conditions Citations
tsc2vu242/vu242 standard conditions Scheldeman et al., 2017
PHENOTYPE No data available

CITATIONS (1)