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Metadata
ID DOID:0060582
Name Noonan syndrome 4
Definition A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22.
https://www.ncbi.nlm.nih.gov/pubmed/19438935
Xrefs

ICD10CM:Q87.1

MESH:C548082

OMIM:610733

Alternateids

DOID:0070104

Synonyms

NS4 [EXACT]

Parent Relationships

is_a Noonan syndrome

is_a autosomal dominant disease

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