Noonan syndrome with multiple lentigines

Summary

DOID:14291 - Noonan syndrome with multiple lentigines

Disease Ontology Definition:A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.

Synonyms: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, Cardiocutaneous syndrome, Generalized lentiginosis, Generalized lentiginosis (disorder), Gorlin syndrome II, Lentiginosis profusa syndrome, LEOPARD syndrome, Moynahan syndrome, Multiple lentigines syndrome, Multiple lentigines syndrome (disorder), Noonan syndrome with multiple lentigines, Progressive cardiomyopathic lentiginosis

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: braf, raf1, ptpn11

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007893 - Noonan syndrome with multiple lentigines

MONDO:0007893 - Noonan syndrome with multiple lentigines

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), RASopathy (is_a), syndrome (is_a)