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Summary Literature (1)
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, LEOPARD syndrome, Lentiginosis profusa syndrome, Moynahan syndrome, Multiple lentigines syndrome, Multiple lentigines syndrome (disorder), Noonan syndrome with multiple lentigines, Progressive cardiomyopathic lentiginosis

Xenbase Genes : braf, raf1, ptpn11

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007893 - Noonan syndrome with multiple lentigines

OMIM:
OMIM:151100 - LEOPARD SYNDROME 1; LPRD1
OMIM:611554 - LEOPARD SYNDROME 2; LPRD2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): RASopathy (is_a), autosomal dominant disease (is_a), syndrome (is_a)