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Kidney Tissue Atlas Ontology
Last uploaded:
March 16, 2024
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| Id | http://purl.obolibrary.org/obo/MONDO_0021060
http://purl.obolibrary.org/obo/MONDO_0021060
|
|---|---|
| Preferred Name | RASopathy |
| 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.
|
| Synonyms |
Ras protein signal transduction disease
disorder of Ras protein signal transduction
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
RASopathy
|
|---|---|
| prefLabel |
RASopathy
|
| exactMatch | |
| database_cross_reference |
Orphanet:536391
EFO:1001502
|
| notation |
MONDO:0021060
|
| in_subset | |
| id |
MONDO:0021060
|
| disease has basis in disruption of | |
| disease causes disruption of | |
| 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 | |
| imported from | |
| type | |
| conformsTo | |
| has exact synonym |
Ras protein signal transduction disease
disorder of Ras protein signal transduction
|
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