Meester-Loeys Syndrome

Preferred Label : Meester-Loeys Syndrome;

NCIt synonyms : MRLS;

NCIt definition : An X-linked condition caused by mutation(s) in the BGN gene, encoding biglycan. It is characterized by cardiovascular defects and abnormal facies.;

NCI Metathesaurus CUI : CL602434;

Details

Origin ID

C187989;

UMLS CUI

C4310811;

Currated CISMeF NLP mapping
- Meester-Loeys syndrome [DO Concept]
- Meester-loeys syndrome [OMIM Phenotype]
- X-linked severe syndromic thoracic aortic aneurysm and dissection [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Meester-loeys syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- BGN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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