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Details
Link-It Detail - Disease - Holt-Oram syndrome
Debug Stats
  • ### Total Build Time: 155 ms 18.623 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 334 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 416 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=129 ms Completed: 129 ms rowSize= 7.167 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 9.501 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Holt-Oram syndrome C0265264
Definition (1)
characterized by malformations of bones of the thumbs, hands and forearms and/or abnormalities of the heart; in many infants, the thumbs and wrists may be absent, underdeveloped or have an extra bone; scapulae, clavicles, and/or other bones may also be abnormal.
Relationships (17)

Relation Types:
diso_​to_​diso : 17


Relationships:
expanded_​form_​of : 1
manifestation_​of : 16
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Absence of the thumbs C0241391
DISO_to_DISOmanifestation_ofimg Absent pectoralis major muscle C1840533
DISO_to_DISOmanifestation_ofimg Asymmetric involvement C1840538
DISO_to_DISOmanifestation_ofimg Atrial septal defect within oval fossa C2939192
DISO_to_DISOmanifestation_ofimg Bifid thumb C0265608
DISO_to_DISOmanifestation_ofimg Carpal bone anomalies C1840535
DISO_to_DISOmanifestation_ofimg Caused by mutations in the T-Box 5 gene (TBX5, 601620.0001) C1840539
DISO_to_DISOmanifestation_ofimg Ductus Arteriosus, Patent C0013274
DISO_to_DISOmanifestation_ofimg HLH - Hypoplastic left heart syndrome C0152101
DISO_to_DISOmanifestation_ofimg Heart Septal Defects, Ventricular C0018818
DISO_to_DISOexpanded_form_ofimg Holt-Oram syndrome C0265264
DISO_to_DISOmanifestation_ofimg Jarcho-Levin syndrome C0265343
DISO_to_DISOmanifestation_ofimg Pectus excavatum or carinatum C1840534
DISO_to_DISOmanifestation_ofimg Radial-ulnar anomalies C1840537
DISO_to_DISOmanifestation_ofimg Thoracic scoliosis C1857790
DISO_to_DISOmanifestation_ofimg Triphalangeal thumb C0241397
DISO_to_DISOmanifestation_ofimg Upper extremity phocomelia C1840536
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanTBX36926T-box 3
img GENERIF, Score=756, Pubmed Id: 12005433, UMLKSK CUI: C0265264
HumanTBX56910T-box 5
img GAD, Score=1000, Pubmed Id: 10077612, UMLKSK CUI: C0265264
img GENERIF, Score=1000, Pubmed Id: 15087119, UMLKSK CUI: C0265264
img GENERIF, Score=679, Pubmed Id: 15221798, UMLKSK CUI: C0265264
img GENERIF, Score=1000, Pubmed Id: 12237100, UMLKSK CUI: C0265264
img GENERIF, Score=1000, Pubmed Id: 12499378, UMLKSK CUI: C0265264
img GENERIF, Score=1000, Pubmed Id: 16917909, UMLKSK CUI: C0265264
img GENERIF, Score=1000, Pubmed Id: 17534187, UMLKSK CUI: C0265264
img GENERIF, Score=1000, Pubmed Id: 11748310, UMLKSK CUI: C0265264
HumanMYH84626myosin, heavy chain 8, skeletal muscle, perinatal
img GENERIF, Score=923, Pubmed Id: 15282353, UMLKSK CUI: C0265264
HumanLMNA4000lamin A/C
img GENERIF, Score=1000, Pubmed Id: 18611980, UMLKSK CUI: C0265264
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265264Holt-Oram syndrome0self