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Details
Link-It Detail - Disease - Hypoplastic Left Heart Syndrome
Debug Stats
  • ### Total Build Time: 81 ms 26.706 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 427 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 447 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=6 ms Completed: 6 ms rowSize= 561 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.124 KB
  • CONCEPT_RELATIONSHIPS gt=45 ms Completed: 45 ms rowSize= 13.379 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 6.360 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.165 KB
  • CONCEPT_ANCILLARY gt=3 ms Completed: 3 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Hypoplastic Left Heart Syndrome C0152101
HLH - Hypoplastic left heart syndrome
Definition (1)
A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (1)
img Heart Defects, Congenital C0018798
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
Relationships (58)

Relation Types:
diso_​to_​anat : 11
diso_​to_​chem : 15
diso_​to_​diso : 28
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 30
associated_​with : 1
classifies : 2
expanded_​form_​of : 1
location_​of : 1
mapped_​to : 8
may_​treat : 15
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT71img Pulmonary Artery C0034052
DISO_to_ANAT56img Heart Ventricle C0018827
DISO_to_DISO55img Complication Aspects C1171258
DISO_to_ANAT44img Pulmonary Artery C0034052
DISO_to_DISO39img Complication Aspects C1171258
DISO_to_ANAT26img Heart Ventricle C0018827
DISO_to_DISO22img COMPL POSTOP C0032787
DISO_to_DISO19img Abnormalities, Multiple C0000772
DISO_to_DISO17img COMPL POSTOP C0032787
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_ANAT13img Aorta C0003483
DISO_to_ANAT13img Aorta, Thoracic C1522460
DISO_to_DISO13img Congenital Heart Defects C0018798
DISO_to_ANAT12img Heart Septum C0018819
DISO_to_DISO12img AORTA-PULMONARY ART TRANSPOSITION C0040761
DISO_to_DISO12img Abnormalities, Multiple C0000772
DISO_to_DISO11img Atrial Septal Defects C0018817
DISO_to_PHEN11img genetic aspects C0017399
DISO_to_DISO10img Aortic Coarctation C0003492
DISO_to_DISO10img Aortic Valve Stenosis C0003507
DISO_to_DISO10img Atrial Septal Defects C0018817
DISO_to_DISO9img DISORDER FETAL C0015929
DISO_to_ANAT8img Aortic Valve C0003501
DISO_to_ANAT8img In Blood C0005768
DISO_to_ANAT8img Pulmonary Veins C0034090
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanJAM383700junctional adhesion molecule 3
img GENERIF, Score=1000, Pubmed Id: 11944976, UMLKSK CUI: C0152101
HumanTBX56910T-box 5
img OMIM, Score=1000, UMLKSK CUI: C0152101
HumanS100B6285S100 calcium binding protein B
img GENERIF, Score=1000, Pubmed Id: 12351263, UMLKSK CUI: C0152101
HumanGJA12697gap junction protein, alpha 1, 43kDa
img OMIM, Score=1000, UMLKSK CUI: C0152101
img GAD, Score=1000, Pubmed Id: 11470490, UMLKSK CUI: C0152101
HumanEDN11906endothelin 1
img GENERIF, Score=1000, Pubmed Id: 18603063, UMLKSK CUI: C0152101
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0152101Hypoplastic Left Heart Syndrome0self