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. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/5782826 ]

Synonyms: NS2

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C548081
  • MIM:605275
  • ICD10CM:Q87.1
acronym
NS2

has alternative id

DOID:0070102

has obo namespace

disease_ontology

id

DOID:0060580