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 |
|
database_cross_reference |
Orphanet:536391 GARD:22213 DOID:0080690 EFO:1001502 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. |
|
disease caused by disruption of | ||
exactMatch |
http://purl.obolibrary.org/obo/NCIT_C179667 |
|
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#rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
label |
RASopathy |
|
notation |
MONDO:0021060 |
|
prefLabel |
RASopathy |
|
treeView | ||
subClassOf |