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Details
Link-It Detail - Disease - Loeys-Dietz Syndrome
Debug Stats
  • ### Total Build Time: 112 ms 16.769 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 555 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=13 ms Completed: 13 ms rowSize= 2.264 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=42 ms Completed: 42 ms rowSize= 8.041 KB
  • CONCEPT_RELATIONSHIPS gt=39 ms Completed: 39 ms rowSize= 4.175 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Loeys-Dietz Syndrome C2697932
Definition (1)
An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (5)
img Aortic Aneurysm C0003486
img Aneurysm, Dissecting C0002949
img Craniofacial Abnormalities C0376634
img Genetic Diseases, Inborn C0950123
img Abnormalities, Multiple C0000772
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Vascular Diseases C00423735img Aortic Aneurysm C0003486
img Cardiovascular Diseases C0007222img Vascular Diseases C00423735img Aneurysm, Dissecting C0002949
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Craniofacial Abnormalities C0376634
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514914img Craniofacial Abnormalities C0376634
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (7)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 5
diso_​to_​phen : 1


Relationships:
none : 3
isa : 1
mapped_​to : 2
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN23img genetic aspects C0017399
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_CHEM13img Receptors, Transforming Growth Factor beta C0076930
DISO_to_DISOmapped_toimg AAT3 C2674574
DISO_to_DISOmapped_toimg Ascending aortic aneurysm, hypertelorism, bifid uvula, cleft palate, and arterial tortuosity C2930825
DISO_to_DISOpermuted_term_ofimg Loeys Dietz Syndrome C2697932
DISO_to_DISOisaimg Loeys-Dietz Syndrome Type 1 C2697933
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C2697932Loeys-Dietz Syndrome0self