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Metadata
ID DOID:0080548
Name Noonan syndrome with multiple lentigines 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
Xrefs

MIM:151100

Synonyms

LEOPARD syndrome 1 [EXACT]

Parent Relationships

is_a Noonan syndrome with multiple lentigines

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