Visualize Submit Comment

Metadata
ID	DOID:0060580
Name	Noonan syndrome 2
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
Xrefs	ICD10CM:Q87.1 MESH:C548081 MIM:605275
Alternateids	DOID:0070102
Synonyms	NS2 [EXACT]
Parent Relationships	is_a Noonan syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance