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DO Term : Loeys-Dietz syndrome 4 [DOID:0070233] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41.

synonyms:
614816,
LDS4,
Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations,
OMIM:614816

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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