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Loeys-Dietz syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018954

Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum. [ Orphanet:60030 ]

Synonyms: Loeys-Dietz syndrome aortic aneurysm syndrome due to TGF-beta receptors anomalies

This is just here as a test because I lose it

Term information

database cross reference
  • OMIMPS:609192 (MONDO:equivalentTo)
  • NCIT:C75006 (MONDO:equivalentTo)
  • MESH:D055947 (MONDO:equivalentTo)
  • UMLS:C2697932 (Orphanet:60030)
  • DOID:0050466 (MONDO:equivalentTo)
  • GARD:10788 (Orphanet:60030)
  • Orphanet:60030 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • SCTID:446263001 (MONDO:equivalentTo)
  • NORD:91173 (MONDO:NORD)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

exactMatch

http://identifiers.org/mesh/D055947

http://purl.obolibrary.org/obo/DOID_0050466

https://omim.org/phenotypicSeries/PS609192

http://linkedlifedata.com/resource/umls/id/C2697932

http://purl.obolibrary.org/obo/NCIT_C75006

http://www.orpha.net/ORDO/Orphanet_60030

http://identifiers.org/snomedct/446263001

has related synonym

aortic aneurysm syndrome, Loeys-Dietz type

id

MONDO:0018954

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0018954