FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

Noonan syndrome with multiple lentigines

Synonyms
Definitions

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.

ID

http://purl.obolibrary.org/obo/DOID_14291

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.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

Noonan syndrome with multiple lentigines

prefixIRI

DOID:14291

prefLabel

Noonan syndrome with multiple lentigines

subClassOf

http://purl.obolibrary.org/obo/DOID_0080690

http://purl.obolibrary.org/obo/DOID_0050736

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