Search Ontology:
Human Disease
schwannomatosis 1
- Term ID
- DOID:0070480
- Synonyms
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- neurofibromatosis 3
- SMARCB1-related schwannomatosis
- SWN1
- Definition
- A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23. (2)
- References
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- MIM:162091
- NCI:C186703
- UMLS_CUI:C5670707
- Ontology
- Human Disease ( DOID:0070480 )
- is a type of
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Genes Involved
Zebrafish Models