loading...| Preferred Name |
RASopathy |
|
| Synonyms |
Ras protein signal transduction disease disorder of Ras protein signal transduction |
|
| Definitions |
The RASopathies are 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 |
|
| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/basis_in_disruption_of_process.yaml http://purl.obolibrary.org/obo/mondo/patterns/disrupts_process.yaml |
|
| database_cross_reference |
Orphanet:536391 EFO:1001502 |
|
| disease has basis in disruption of | ||
| exactMatch | ||
| has exact synonym |
Ras protein signal transduction disease disorder of Ras protein signal transduction |
|
| id |
MONDO:0021060 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
RASopathy |
|
| notation |
MONDO:0021060 |
|
| prefLabel |
RASopathy |
|
| textual definition |
The RASopathies are 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. |
|
| subClassOf |