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Details
Link-It Detail - Human Phenotype - Abnormal branching pattern of the aortic arch
Debug Stats
  • ### Total Build Time: 51 ms 18.402 KB
  • CONCEPT_NAME gt=23 ms Completed: 23 ms rowSize= 220 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 335 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=5 ms Completed: 5 ms rowSize= 778 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 3.530 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=7 ms Completed: 7 ms rowSize= 3.950 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 8.437 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.039 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal branching pattern of the aortic arch HP:0011587
Definition (1)
A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.
Parents (2)
img Abnormality of the aorta HP:0001679
img Abnormality of the aortic arch HP:0012303
Children (10)
img Cervical aortic arch HP:0011588
img Left aortic arch with right descending aorta and right ductus arteriosus HP:0011596
img Double aortic arch HP:0011590
img Left aortic arch with isolated subclavian artery HP:0011592
img Common origin of the right brachiocephalic artery and left common carotid artery HP:0011589
img Vascular ring HP:0010775
img Left aortic arch with retroesophageal diverticulum of Kommerell HP:0011593
img Left aortic arch with cervical origin of the right subclavian artery HP:0011591
img Left aortic arch with retroesophageal right subclavian artery HP:0011595
img Right aortic arch HP:0012020
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the aorta HP:0001679
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the aorta HP:0001679
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the aortic arch HP:0012303
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the aortic arch HP:0012303
Genes (14)

Species:
human : 14
SpeciesGeneGeneIdGene NameEvidence
HumanCRELD178987cysteine-rich with EGF-like domains 1
HumanSTRA664220stimulated by retinoic acid 6
HumanDGCR854487DGCR8 microprocessor complex subunit
HumanAKT310000v-akt murine thymoma viral oncogene homolog 3
img HP RolledUp, OMIM ID: 603387
HumanDGCR29993DiGeorge syndrome critical region gene 2
HumanDGCR148220DiGeorge syndrome critical region gene 14
HumanDGCR68214DiGeorge syndrome critical region gene 6
HumanTBX16899T-box 1
HumanPIK3R25296phosphoinositide-3-kinase, regulatory subunit 2 (beta)
img HP RolledUp, OMIM ID: 603387
HumanPIK3CA5290phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
img HP RolledUp, OMIM ID: 603387
HumanEP3002033E1A binding protein p300
img HP RolledUp, OMIM ID: 180849
HumanDGCR1714DiGeorge syndrome chromosome region
HumanCREBBP1387CREB binding protein
img HP RolledUp, OMIM ID: 180849
HumanACVR2B93activin A receptor, type IIB
img HP RolledUp, OMIM ID: 613751
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011587Abnormal branching pattern of the aortic arch0self