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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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Id | http://purl.obolibrary.org/obo/MONDO_0021060
http://purl.obolibrary.org/obo/MONDO_0021060
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Preferred Name | RASopathy |
Definitions |
Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.
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Synonyms |
Ras protein signal transduction disease
disorder of Ras protein signal transduction
RASopathy
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. |
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altLabel |
Ras protein signal transduction disease
disorder of Ras protein signal transduction
RASopathy
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label |
RASopathy
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prefLabel |
RASopathy
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prefixIRI |
MONDO:0021060
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textual definition |
Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.
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subClassOf | |
type | |
has_exact_synonym |
Ras protein signal transduction disease
disorder of Ras protein signal transduction
RASopathy
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