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Details
Link-It Detail - Human Phenotype - Abnormality of the aortic arch
Debug Stats
  • ### Total Build Time: 23 ms 15.688 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 205 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 445 bytes
  • CONCEPT_CHILDREN gt=1 ms Completed: 1 ms rowSize= 1.757 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 2.086 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 10.041 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.024 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Human Phenotype (1)
Abnormality of the aortic arch HP:0012303
Parents (1)
img Abnormality of the aorta HP:0001679
Children (5)
img Pseudocoarctation of the aorta HP:0005295
img Abnormal branching pattern of the aortic arch HP:0011587
img Hypoplastic aortic arch HP:0012304
img Interrupted aortic arch HP:0011611
img Coarctation of the descending aortic arch HP:0012305
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
Genes (18)

Species:
human : 18
SpeciesGeneGeneIdGene NameEvidence
HumanCFSS100188773craniofacioskeletal syndrome
img HP RolledUp, OMIM ID: 300712
HumanDIS3L2129563DIS3 mitotic control homolog (S. cerevisiae)-like 2
img HP RolledUp, OMIM ID: 267000
HumanCRELD178987cysteine-rich with EGF-like domains 1
HumanSTRA664220stimulated by retinoic acid 6
HumanDGCR854487DGCR8 microprocessor complex subunit
HumanAKT310000v-akt murine thymoma viral oncogene homolog 3
HumanDGCR29993DiGeorge syndrome critical region gene 2
HumanDGCR148220DiGeorge syndrome critical region gene 14
HumanDGCR68214DiGeorge syndrome critical region gene 6
HumanTBX16899T-box 1
img HP RolledUp, OMIM ID: 188400
HumanPIK3R25296phosphoinositide-3-kinase, regulatory subunit 2 (beta)
HumanPIK3CA5290phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
HumanGLI32737GLI family zinc finger 3
img HP RolledUp, OMIM ID: 146510
HumanGATA62627GATA binding protein 6
img HP RolledUp, OMIM ID: 600001
HumanEP3002033E1A binding protein p300
HumanDGCR1714DiGeorge syndrome chromosome region
img HP RolledUp, OMIM ID: 188400
HumanCREBBP1387CREB binding protein
HumanACVR2B93activin A receptor, type IIB
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0012303Abnormality of the aortic arch0self