JSON

RASopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0021060

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. [ http://en.wikipedia.org/wiki/RASopathy ]

Synonyms: disorder of Ras protein signal transduction RASopathy Ras protein signal transduction disease

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:536391 (https://github.com/monarch-initiative/mondo/issues/606)
  • MEDGEN:1792298 (MONDO:equivalentTo)
  • UMLS:C5555857 (MONDO:equivalentTo)
  • GARD:22213 (MONDO:GARD)
  • DOID:0080690 (MONDO:equivalentTo)
  • NCIT:C179667 (MONDO:equivalentTo)
  • EFO:1001502 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, clingen, ordo_group_of_disorders

exactMatch

http://www.orpha.net/ORDO/Orphanet_536391

http://linkedlifedata.com/resource/umls/id/C5555857

http://purl.obolibrary.org/obo/NCIT_C179667

http://purl.obolibrary.org/obo/DOID_0080690

http://identifiers.org/medgen/1792298

id

MONDO:0021060

Term relations

Subclass of: