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Metadata
ID DOID:14291
Name Noonan syndrome with multiple lentigines
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.
https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance, https://rarediseases.info.nih.gov/diseases/1100/leopard-syndrome
Xrefs

GARD:1100

MESH:D044542

NCI:C84820

OMIM:PS151100

ORDO:500

SNOMEDCT_US_2020_09_01:111306001

UMLS_CUI:C0175704

Subsets

NCIthesaurus

Synonyms

Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome [EXACT]

Generalized lentiginosis [EXACT]

Gorlin syndrome II [EXACT]

Lentiginosis profusa syndrome [EXACT]

LEOPARD syndrome [EXACT]

Moynahan syndrome [EXACT]

Multiple lentigines syndrome [EXACT]

Progressive cardiomyopathic lentiginosis [EXACT]

Parent Relationships

is_a RASopathy

is_a autosomal dominant disease

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