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Disease Ontology Browser
Noonan syndrome with multiple lentigines (DOID:14291)
Alliance: disease page
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
Alt IDs: MESH:D044542, NCI:C84820, OMIM:PS151100, ORDO:500, UMLS_CUI:C0175704
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.

Disease References using Mouse Models (7)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory