Loeys-Dietz Syndrome Type 3

Preferred Label : Loeys-Dietz Syndrome Type 3;

NCIt synonyms : LDS3;

NCIt definition : Loeys-Dietz syndrome caused by mutation(s) in the SMAD3 gene, encoding mothers against decapentaplegic homolog 3.;

Details

Origin ID

C186786;

UMLS CUI

C3151087;

Currated CISMeF NLP mapping
- Loeys-Dietz syndrome 3 [DO Concept]
- Loeys-dietz syndrome 3 [OMIM Phenotype]
See also inter- (CISMeF)
- Loeys-Dietz aortic aneurysm syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aneurysm - osteoarthritis syndrome [ICD-11 More detail]
- Loeys-dietz syndrome 3 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SMAD3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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