ZFIN Human Disease: Noonan syndrome with multiple lentigines

OBO ID: DOID:14291

Term Name:	Noonan syndrome with multiple lentigines		Search Ontology:
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. (2)
References:	GARD:1100 MESH:D044542 NCI:C84820 OMIM:PS151100 ORDO:500 SNOMEDCT_US_2023_03_01:111306001 UMLS_CUI:C0175704
Ontology:	Human Disease ( DOID:14291 )

Relationships

is a type of:	autosomal dominant disease RASopathy autosomal dominant disease RASopathy Show first 5 Terms
has subtype:	Noonan syndrome with multiple lentigines 1 Noonan syndrome with multiple lentigines 2 Noonan syndrome with multiple lentigines 3 Noonan syndrome with multiple lentigines 1 Noonan syndrome with multiple lentigines 2 Noonan syndrome with multiple lentigines 3 Show first 5 Terms

OTHER Noonan syndrome with multiple lentigines PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (5)