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DO Term : Loeys-Dietz syndrome 1 [DOID:0070235] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.
  • synonyms:
  • OMIM:609192,
  • AAT5,
  • familial throacic aortic aneurysm 5,
  • 609192,
  • Furlong syndrome,
  • LDS1
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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