Loeys-Dietz Syndrome Type 5

Preferred Label : Loeys-Dietz Syndrome Type 5;

NCIt synonyms : Rienhoff Syndrome; LDS5;

NCIt definition : Loeys-Dietz syndrome caused by mutation(s) in the TGFB3 gene, encoding transforming growth factor beta-3 proprotein.;

Details

Origin ID

C188143;

UMLS CUI

C3810012;

Currated CISMeF NLP mapping
- Loeys-Dietz syndrome 5 [DO Concept]
- Loeys-dietz syndrome 5 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Loeys-dietz syndrome 5 [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
- TGFB3 Gene [NCIt concept]

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