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Details
Link-It Detail - Disease - Alagille Syndrome
Debug Stats
  • ### Total Build Time: 46 ms 27.146 KB
  • CONCEPT_NAME gt=16 ms Completed: 16 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 507 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 1.844 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 9.334 KB
  • CONCEPT_RELATIONSHIPS gt=15 ms Completed: 15 ms rowSize= 6.345 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 7.376 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Alagille Syndrome C0085280
Definition (1)
autosomal dominant mutation involving chromosome 20; characterized by the almost normal liver that has few or no intrahepatic bile ducts; other extrahepatic malformations include those in the heart, the eyes, the vertebral column, and the facies; major clinical features include jaundice, and congenital heart disease with peripheral pulmonary stenosis.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (4)
img Cholestasis, Intrahepatic C0008372
img Heart Defects, Congenital C0018798
img Genetic Diseases, Inborn C0950123
img Abnormalities, Multiple C0000772
Ancestral Roots
RootRoot Plus OneDepthParent
img Digestive System Diseases C0012242img Biliary Tract Diseases C00054246img Cholestasis, Intrahepatic C0008372
img Digestive System Diseases C0012242img Liver Diseases C00238954img Cholestasis, Intrahepatic C0008372
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 Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (14)

Relation Types:
diso_​to_​chem : 7
diso_​to_​diso : 3
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 13
expanded_​form_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN46img genetic aspects C0017399
DISO_to_DISO34img Complication Aspects C1171258
DISO_to_CHEM32img Calcium-Binding Proteins C0006732
DISO_to_CHEM32img INTERCELLULAR SIGNALING PEPTIDES PROTEINS C1136108
DISO_to_CHEM32img Intercellular Signaling Peptides and Proteins C1136108
DISO_to_CHEM32img Membrane Associated Proteins C0025252
DISO_to_DISO32img Complication Aspects C1171258
DISO_to_PHEN31img genetic aspects C0017399
DISO_to_CHEM16img Nucleotides C0028630
DISO_to_PHYS14img Mutation C0026882
DISO_to_CHEM10img Membrane Associated Proteins C0025252
DISO_to_CHEM9img Proteins C0033684
DISO_to_PHYS8img Mutation C0026882
DISO_to_DISOexpanded_form_ofimg Alagille Syndrome C0085280
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanHEY223493hairy/enhancer-of-split related with YRPW motif 2
img GENERIF, Score=1000, Pubmed Id: 18266235, UMLKSK CUI: C0085280
HumanNOTCH24853notch 2
img GENERIF, Score=1000, Pubmed Id: 16773578, UMLKSK CUI: C0085280
img GENERIF, Score=1000, Pubmed Id: 18266235, UMLKSK CUI: C0085280
HumanJAG1182jagged 1
img GENERIF, Score=1000, Pubmed Id: 16575836, UMLKSK CUI: C0085280
img GAD, Score=1000, Pubmed Id: 12427653, UMLKSK CUI: C0085280
img GENERIF, Score=1000, Pubmed Id: 17720887, UMLKSK CUI: C0085280
img GENERIF, Score=1000, Pubmed Id: 16013021, UMLKSK CUI: C0085280
img GENERIF, Score=1000, Pubmed Id: 18266235, UMLKSK CUI: C0085280
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0085280Alagille Syndrome0self