schwannomatosis 1 - Ontology Browser

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Term:

schwannomatosis 1 (DOID:0070480)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (2) Green Monkey: (2)

Parent Terms

Term With Siblings

Child Terms

schwannomatosis + is-a

schwannomatosis 1

A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23. (DO)

schwannomatosis 2

vestibular schwannomatosis

Synonyms
Exact Synonyms:	SMARCB1-related schwannomatosis ; SWN1 ; SWNTS1
Narrow Synonyms:	SCHWANNOMATOSIS 1, SOMATIC
Primary IDs:	OMIM:162091
Xrefs:	NCI:C186703
Definition Sources:	https://pubmed.ncbi.nlm.nih.gov/19582488/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/35674741/ "DO" "DO"

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.