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DO Term : Noonan syndrome 2 [DOID:0060580] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:605275,
  • NS2,
  • DOID:0070102,
  • ICD10CM:Q87.1,
  • 605275,
  • MESH:C548081
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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