| 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 |
SNOMEDCT_US_2023_03_01:111306001 |
| Subsets |
DO_rare_slim 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 autosomal dominant disease is_a RASopathy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |