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Metadata
ID DOID:0080549
Name Noonan syndrome with multiple lentigines 2
Definition A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25.
https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance, https://www.ncbi.nlm.nih.gov/pubmed/17603483
Xrefs

MESH:C537117

OMIM:611554

Synonyms

LEOPARD syndrome 2 [EXACT]

Parent Relationships

is_a Noonan syndrome with multiple lentigines

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