Search Ontology:
Human Disease

schwannomatosis 1

Term ID
DOID:0070480
Synonyms
  • 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
  • MIM:162091
  • NCI:C186703
  • UMLS_CUI:C5670707
Ontology
Human Disease   ( DOID:0070480 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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