Loeys-Dietz syndrome, type 2A

Preferred Label : Loeys-Dietz syndrome, type 2A;

MeSH note : aka LDS2A or AAT5;mutationsin TGFBR1;

MeSH synonym : aortic aneurysm, familial thoracic 5;

Details

Origin ID

C567156;

UMLS CUI

C2674127;

Automatic exact mappings (from CISMeF team)
- Loeys-dietz syndrome 1 [OMIM Phenotype]
Currated CISMeF NLP mapping
- Loeys-dietz syndrome, type 2a [OMIM Phenotype]
MeSH term(s) associated for indexing
- Loeys-Dietz syndrome [MeSH Descriptor]
- aortic aneurysm, thoracic [MeSH Descriptor]
Record concept(s)
- Loeys-Dietz syndrome, type 2A [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Loeys-dietz syndrome, type 2a [OMIM Phenotype]

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