Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	RASopathy
Synonyms	RAS/mitogen-activated protein kinase syndrome
Definitions	A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.
ID	http://purl.obolibrary.org/obo/DOID_0080690
definition	A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.
has exact synonym	RAS/mitogen-activated protein kinase syndrome
has_obo_namespace	disease_ontology
id	DOID:0080690
label	RASopathy
notation	DOID:0080690
prefLabel	RASopathy
subClassOf	http://purl.obolibrary.org/obo/DOID_225

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