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Metadata
ID DOID:0060578
Name Noonan syndrome 1
Definition A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.
https://www.ncbi.nlm.nih.gov/pubmed/18203203
Xrefs

ICD10CM:Q87.1

OMIM:163950

Alternateids

DOID:0070101

Synonyms

NS1 [EXACT]

Parent Relationships

is_a Noonan syndrome

is_a autosomal dominant disease

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