Term Name: Noonan syndrome with multiple lentigines
Synonyms: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, Generalized lentiginosis, Gorlin syndrome II, Lentiginosis profusa syndrome, LEOPARD syndrome, Moynahan syndrome, Multiple lentigines syndrome, Progressive cardiomyopathic lentiginosis
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.
Ontology: Human Disease [DOID:14291]   ( DOID:14291 )

Relationships
is a type of: autosomal dominant disease RASopathy
has subtype: Noonan syndrome with multiple lentigines 1 Noonan syndrome with multiple lentigines 2 Noonan syndrome with multiple lentigines 3