Noonan syndrome with multiple lentigines

Term ID

DOID:14291

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 Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations