Disease: Loeys-Dietz Syndrome 1

Name
Loeys-Dietz Syndrome 1
Synonmys
AORTIC ANEURYSM, FAMILIAL THORACIC 5; AAT5 , FURLONG SYNDROME , LOEYS-DIETZ AORTIC ANEURYSM SYNDROME
Classification
bone, circulatory, developmental, genetic, surgical thoracic, systemic and rheumatological
Associated Genes
TGFBR1 (Withdrawn symbols: ACVRLK4, ALK-5, ALK5, ESS1, MSSE, TBR-i, TBRI )
Mouse Orthologs
Tgfbr1 (Withdrawn symbols: AU017191 )
Source
OMIM:609192 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Models

Learn about how to interpret our results in the Disease Models Help pages

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