Terminology Service for NFDI4Health
rasopathy
Go to external page
http://www.ebi.ac.uk/efo/EFO_1001502
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. [ http://en.wikipedia.org/wiki/RASopathy ]
Term info
Label
rasopathy
Synonyms
- RASopathy
- Ras protein signal transduction disease
- disorder of Ras protein signal transduction
Subsets
disease_grouping, ordo_group_of_disorders
exactMatch
http://purl.obolibrary.org/obo/Orphanet_536391
id
EFO:1001502
term editor
Dani Welter