Loeys-dietz syndrome, type 2a

Preferred Label : Loeys-dietz syndrome, type 2a;

Obsolete resource : true;

Moved to : 609192;

Alternative titles and symbols : Lds2a; Aortic aneurysm, familial thoracic 5; Aat5;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transforming growth factor, beta receptori gene (tgfbr1, 190181.0004);

Prefixed ID : 608967;

Details

Origin ID

608967;

UMLS CUI

C2674127;

Automatic exact mappings (from CISMeF team)
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
Broader ORDO disease(s)
- Loeys-Dietz syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Loeys-Dietz syndrome, type 2A [MeSH concept]
- Loeys-Dietz syndrome, type 2A [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Loeys-Dietz syndrome, type 2A [MeSH Supplementary Concept]
- Loeys-Dietz syndrome, type 2A [MeSH concept]

Keyword's position in hierarchy(ies) :

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