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Disease Ontology Browser
Noonan syndrome 2 (DOID:0060580)
Alliance: disease page
Synonyms: NS2
Alt IDs: OMIM:605275, ICD10CM:Q87.1, MESH:C548081
Definition: A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory