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Details
Link-It Detail - Disease - Marfan Syndrome
Debug Stats
  • ### Total Build Time: 54 ms 35.051 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 328 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 304 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=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 2.281 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 9.350 KB
  • CONCEPT_RELATIONSHIPS gt=40 ms Completed: 40 ms rowSize= 14.160 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 7.274 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Marfan Syndrome C0024796
Definition (1)
A hereditary disorder of connective tissue characterized by tall stature, elongated extremities, dilatation of the ascending aorta, and pigeon breast.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (5)
img Heart Defects, Congenital C0018798
img Genetic Diseases, Inborn C0950123
img Bone Diseases, Developmental C0005941
img Connective Tissue Diseases C0009782
img Abnormalities, Multiple C0000772
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Heart Diseases C00187994img Heart Defects, Congenital C0018798
img Cardiovascular Diseases C0007222img Cardiovascular Abnormalities C02430504img Heart Defects, Congenital C0018798
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Heart Defects, Congenital C0018798
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Musculoskeletal Diseases C0026857img Bone Diseases C00059404img Bone Diseases, Developmental C0005941
img Skin and Connective Tissue Diseases C0175166img Connective Tissue Diseases C00097823img Connective Tissue Diseases C0009782
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (120)

Relation Types:
diso_​to_​anat : 7
diso_​to_​chem : 10
diso_​to_​diso : 99
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 37
classifies : 2
is_​associated_​anatomic_​site_​of : 2
isa : 2
manifestation_​of : 67
mapped_​to : 8
permuted_​term_​of : 1
related_​to : 1
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO327img Complication Aspects C1171258
DISO_to_DISO205img Complication Aspects C1171258
DISO_to_PHEN192img genetic aspects C0017399
DISO_to_PHEN116img genetic aspects C0017399
DISO_to_DISO100img Aortic Aneurysm C0003486
DISO_to_DISO94img ANEURYSM, DISSECTING C0002949
DISO_to_CHEM92img Microfilament Protein C0025978
DISO_to_DISO75img Aortic Aneurysm, Thoracic C0162872
DISO_to_CHEM61img Microfilament Protein C0025978
DISO_to_DISO61img Aortic Aneurysm C0003486
DISO_to_DISO59img ANEURYSM, DISSECTING C0002949
DISO_to_ANAT40img Aorta C0003483
DISO_to_DISO34img Aortic Aneurysm, Thoracic C0162872
DISO_to_PHYS33img Mutation C0026882
DISO_to_DISO30img 3-83 DISEASES OF THE AORTA C0003493
DISO_to_ANAT27img Aortic Valve C0003501
DISO_to_DISO27img CARDIOVASC PREGN COMPL C0032963
DISO_to_ANAT25img Aorta, Thoracic C1522460
DISO_to_DISO24img Aortic Valve Insufficiency C0003504
DISO_to_ANAT22img Aortic Valve C0003501
DISO_to_PHYS20img Mutation C0026882
DISO_to_CHEM19img 2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol C0126174
DISO_to_CHEM19img Losartan C0126174
DISO_to_CHEM18img Transforming Growth Factor beta C0040690
DISO_to_CHEM17img Receptors, Transforming Growth Factor beta C0076930
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanTGFBR27048transforming growth factor, beta receptor II (70/80kDa)
img GENERIF, Score=1000, Pubmed Id: 18781618, UMLKSK CUI: C0024796
img GENERIF, Score=1000, Pubmed Id: 16835936, UMLKSK CUI: C0024796
img GENERIF, Score=901, Pubmed Id: 16283890, UMLKSK CUI: C0024796
img GENERIF, Score=694, Pubmed Id: 15861007, UMLKSK CUI: C0024796
HumanTGFBR17046transforming growth factor, beta receptor 1
img GENERIF, Score=1000, Pubmed Id: 16835936, UMLKSK CUI: C0024796
HumanTGFB17040transforming growth factor, beta 1
img GENERIF, Score=1000, Pubmed Id: 12598898, UMLKSK CUI: C0024796
HumanFBN22201fibrillin 2
img GENERIF, Score=1000, Pubmed Id: 16835936, UMLKSK CUI: C0024796
HumanFBN12200fibrillin 1
Click here to display 24 evidence detail records.
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0024796Marfan Syndrome0self