FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term tuberous sclerosis 1 ID (Ontology) DOID:0080324 (Human Disease)
Definition A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34.
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 tuberous sclerosis 1       2      1      1
 for disease ribbon | tuberous sclerosis 1       --       1       --
 model of | tuberous sclerosis 1       2      1       --
Spanning Tree (Parents/Children)
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autosomal dominant disease__
hamartoma syndrome__________|
                            tuberous sclerosis
                             |__tuberous sclerosis 1  4 rec.
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Is a tuberous sclerosis
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Synonyms
Secondary IDs
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MESH:C565346
MIM:191100