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Details
Link-It Detail - Human Phenotype - Abnormality of the aorta
Debug Stats
  • ### Total Build Time: 33 ms 32.969 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 199 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 195 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= 795 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 5.320 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 2.108 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=20 ms Completed: 20 ms rowSize= 23.216 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.019 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the aorta HP:0001679
Definition (1)
An abnormality of the `aorta` (FMA:3734).
Parents (2)
img Abnormality of the systemic arterial tree HP:0011004
img Abnormality of the vasculature HP:0002597
Children (16)
img Hypoplastic/atretic transverse aortic arch HP:0006680
img Pseudocoarctation of the aorta HP:0005295
img Aortic dilatation HP:0001724
img Calcifications of the aorta HP:0004963
img Vascular ring HP:0010775
img Abnormal branching pattern of the aortic arch HP:0011587
img Overriding aorta HP:0002623
img Thoracic aorta calcification HP:0004962
img Atrioventricular canal defect with right ventricle aorta and pulmonary atresia HP:0005298
img Aortic tortuosity HP:0006687
img Aorto-ventricular tunnel HP:0011627
img Right aortic arch with mirror image branching HP:0002627
img Abnormality of the aortic arch HP:0012303
img Coarctation of aorta HP:0001680
img Aortic dissection HP:0002647
img Interrupted aortic arch HP:0011611
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the systemic arterial tree HP:0011004
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the vasculature HP:0002597
Genes (134)

Species:
human : 134
Page Size
Current 25
  Page 1 of 6
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
img HP TAS, OMIM ID: 614527
HumanCATMANS100862706Catel-Manzke syndrome
img HP RolledUp, OMIM ID: 302380
HumanAAA1100329167aortic aneurysm, familial abdominal 1
img HP RolledUp, OMIM ID: 100070
HumanDUP22Q11.2100240738
img HP TAS, OMIM ID: 608363
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP TAS, OMIM ID: 607872
HumanDEL1Q21100217370Chromosome 1q21.1 deletion syndrome
img HP TAS, OMIM ID: 612474
HumanDEL18Q100216483Chromosome 18q deletion syndrome
img HP RolledUp, OMIM ID: 601808
HumanC22DDELS100188856Chromosome 22q11.2 deletion syndrome, distal
img HP RolledUp, OMIM ID: 611867
HumanMICRODEL3Q29100188788Chromosome 3q29 microdeletion syndrome
img HP TAS, OMIM ID: 609425
HumanCFSS100188773craniofacioskeletal syndrome
img HP RolledUp, OMIM ID: 300712
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
img HP RolledUp, OMIM ID: 210710
HumanDEL17Q21.31791085
img HP RolledUp, OMIM ID: 610443
HumanACF387569Asymmetric crying facies (Cayler cardiofacial syndrome)
img HP TAS, OMIM ID: 125520
HumanZLS353173Zimmerman-Laband Syndrome
img HP RolledUp, OMIM ID: 135500
HumanKANSL1284058KAT8 regulatory NSL complex subunit 1
img HP RolledUp, OMIM ID: 610443
HumanHFM170474Hemifacial microsomia
img HP RolledUp, OMIM ID: 164210
HumanAMER1139285APC membrane recruitment protein 1
img HP TAS, OMIM ID: 300373
HumanNKX2-6137814
img HP TAS, OMIM ID: 217095
HumanDIS3L2129563DIS3 mitotic control homolog (S. cerevisiae)-like 2
img HP RolledUp, OMIM ID: 267000
HumanDBA2114086Diamond-Blackfan anemia 2
img HP RolledUp, OMIM ID: 105650
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP RolledUp, OMIM ID: 194050
HumanC12orf57113246chromosome 12 open reading frame 57
img HP RolledUp, OMIM ID: 218340
HumanCHST14113189carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
img HP TAS, OMIM ID: 601776
HumanUBE3B89910ubiquitin protein ligase E3B
img HP RolledUp, OMIM ID: 615057
HumanSLC2A1081031solute carrier family 2 (facilitated glucose transporter), member 10
img HP RolledUp, OMIM ID: 208050
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001679Abnormality of the aorta0self