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Human Disease

Noonan syndrome 2

Term ID
DOID:0060580
Synonyms
  • NS2
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. https://www.ncbi.nlm.nih.gov/pubmed/5782826
References
Ontology
Human Disease   ( DOID:0060580 )
Relationships
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Genes Involved
Zebrafish Models