loading...| Preferred Name | rasopathy | |
| Synonyms |
disorder of Ras protein signal transduction Ras protein signal transduction disease RASopathy |
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| 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. Developmental syndrome caused by germline mutations in genes that alter the RAS subfamily and mitogen-activated protein kinases that control signal transduction. Known rasopathies include Noonan syndrome, LEOPARD syndrome, Colstello syndrome, neurofibromatosis type 1 and autoimmune lymphoproliferative syndrome |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_1001502 |
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| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0021060 |
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| database_cross_reference |
MONDO:0021060 MEDGEN:1792298 UMLS:C5555857 Orphanet:536391 Wikipedia:RASopathy DOID:0080690 NCIT:C179667 GARD:22213 |
|
| 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. Developmental syndrome caused by germline mutations in genes that alter the RAS subfamily and mitogen-activated protein kinases that control signal transduction. Known rasopathies include Noonan syndrome, LEOPARD syndrome, Colstello syndrome, neurofibromatosis type 1 and autoimmune lymphoproliferative syndrome |
|
| has_exact_synonym |
disorder of Ras protein signal transduction Ras protein signal transduction disease RASopathy |
|
| id |
EFO:1001502 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
rasopathy |
|
| notation |
EFO:1001502 |
|
| preferred label |
rasopathy |
|
| prefLabel |
rasopathy |
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C5555857 http://purl.obolibrary.org/obo/NCIT_C179667 http://purl.obolibrary.org/obo/EFO_1001502 http://purl.obolibrary.org/obo/DOID_0080690 |
|
| term editor |
Dani Welter |
|
| subClassOf |