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Metadata
ID DOID:0112169
Name Noonan syndrome 11
Definition A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3.
https://pubmed.ncbi.nlm.nih.gov/28289718/
Xrefs

OMIM:618499

Synonyms

NS11 [EXACT]

Parent Relationships

is_a Noonan syndrome

is_a autosomal dominant disease

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