Human Disease Ontology

Last uploaded: May 1, 2024
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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