loading...| 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 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0021060 |
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| database_cross_reference |
Orphanet:536391 GARD:22213 DOID:0080690 EFO:1001502 MEDGEN:1792298 UMLS:C5555857 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. |
|
| 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/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
RASopathy |
|
| notation |
MONDO:0021060 |
|
| prefLabel |
RASopathy |
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| 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 |
|
| terms_conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/basis_in_disruption_of_process.yaml |
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| treeView | ||
| subClassOf |