Mondo Disease Ontology

Last uploaded: May 9, 2024
Preferred Name

RASopathy

Synonyms

Ras protein signal transduction disease

disorder of Ras protein signal transduction

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.

ID

http://purl.obolibrary.org/obo/MONDO_0021060

database_cross_reference

Orphanet:536391

GARD:22213

DOID:0080690

EFO:1001502

NCIT:C179667

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.

disease caused by disruption of

http://purl.obolibrary.org/obo/GO_0007265

exactMatch

http://purl.obolibrary.org/obo/NCIT_C179667

http://purl.obolibrary.org/obo/DOID_0080690

http://purl.obolibrary.org/obo/Orphanet_536391

has_exact_synonym

Ras protein signal transduction disease

disorder of Ras protein signal transduction

RASopathy

id

MONDO:0021060

in_subset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#disease_grouping

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders

label

RASopathy

notation

MONDO:0021060

prefLabel

RASopathy

treeView

http://purl.obolibrary.org/obo/MONDO_0000001

http://purl.obolibrary.org/obo/MONDO_0003847

subClassOf

http://purl.obolibrary.org/obo/MONDO_0000001

http://purl.obolibrary.org/obo/MONDO_0003847

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