Noonan syndrome with multiple lentigines 1

Term ID

DOID:0080548

Synonyms

• LEOPARD syndrome 1

Definition

A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24. https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#genes

References

• OMIM:151100

Ontology

Human Disease   ( DOID:0080548 )