Search Ontology:
Human Disease
rhabdoid tumor predisposition syndrome 1
- Term ID
- DOID:0070618
- Synonyms
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- RTPS1
- Definition
- A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11. (2)
- References
- Ontology
- Human Disease ( DOID:0070618 )
- is a type of
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