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DO Term : Loeys-Dietz syndrome 3 [DOID:0070237] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q.

synonyms:
LDS1C,
OMIM:613795,
LDS3,
aneurysms-osteoarthritis syndrome,
613795,
Loeys-Dietz syndrome with osteoarthritis,
Loeys-Dietz syndrome type 1C

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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