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DO Term : schwannomatosis 1 [DOID:0070480] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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

synonyms:
SMARCB1-related schwannomatosis,
OMIM:162091,
162091,
UMLS_CUI:C5670707,
SWN1,
NCI:C186703,
neurofibromatosis 3

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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