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Details
Link-It Detail - Jax Mouse Phenotype - abnormal aortic valve morphology
Debug Stats
  • ### Total Build Time: 49 ms 25.778 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 392 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 429 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 183 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=0 Completed: 0 ms rowSize= 1.056 KB
  • CONCEPT_CHILDREN gt=1 ms Completed: 1 ms rowSize= 4.175 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.960 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=47 ms Completed: 47 ms rowSize= 15.293 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.170 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal aortic valve morphology MP:0002747
Definition (1)
any structural anomaly of the valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle, and contains three cusps, the posterior (non-coronary), right anterior and left anterior cusps, attached to an outer fibrous ring (annulus)
Synonyms (1)
"aortic valvar abnormality" BROAD
Parents (2)
img abnormal semilunar valve morphology MP:0002746
img abnormal heart left ventricle outflow tract morphology MP:0010429
Children (9)
img abnormal aortic valve anulus morphology MP:0010598
img thick aortic valve MP:0010594
img enlarged aortic valve MP:0010591
img aortic valve atresia MP:0006115
img abnormal aortic valve cusp morphology MP:0010595
img aortic valve prolapse MP:0006118
img calcified aortic valve MP:0006116
img aortic valve stenosis MP:0006117
img patent aortic valve MP:0010610
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img cardiovascular system phenotype MP:00053857img abnormal semilunar valve morphology MP:0002746
img mammalian phenotype MP:0000001img cardiovascular system phenotype MP:00053858img abnormal heart left ventricle outflow tract morphology MP:0010429
Genes (39)

Species:
human : 39
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanGATA5140628GATA binding protein 5
INFERRED
HumanMUS8180198MUS81 structure-specific endonuclease subunit
Click here to display 29 evidence detail records.
HumanACKR357007atypical chemokine receptor 3
Click here to display 29 evidence detail records.
HumanMESP155897mesoderm posterior 1 homolog (mouse)
INFERRED
HumanPLCE151196phospholipase C, epsilon 1
INFERRED
HumanINVS27130inversin
INFERRED
HumanHEY223493hairy/enhancer-of-split related with YRPW motif 2
INFERRED
HumanZFPM223414zinc finger protein, FOG family member 2
Click here to display 29 evidence detail records.
HumanKL9365klotho
INFERRED
HumanADAM98754ADAM metallopeptidase domain 9
Click here to display 29 evidence detail records.
HumanADAM198728ADAM metallopeptidase domain 19
Click here to display 29 evidence detail records.
HumanWRN7486Werner syndrome, RecQ helicase-like
INFERRED
HumanTGFB27042transforming growth factor, beta 2
INFERRED
HumanADAM176868ADAM metallopeptidase domain 17
Click here to display 29 evidence detail records.
HumanSPP16696secreted phosphoprotein 1
INFERRED
HumanSOS16654son of sevenless homolog 1 (Drosophila)
INFERRED
HumanRARA5914retinoic acid receptor, alpha
Click here to display 29 evidence detail records.
HumanNTRK34916neurotrophic tyrosine kinase, receptor, type 3
Click here to display 29 evidence detail records.
HumanNTF34908neurotrophin 3
INFERRED
HumanNOS34846nitric oxide synthase 3 (endothelial cell)
INFERRED
HumanNFATC14772nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
INFERRED
HumanMYH104628myosin, heavy chain 10, non-muscle
Click here to display 29 evidence detail records.
HumanMGP4256matrix Gla protein
INFERRED
HumanIDUA3425iduronidase, alpha-L-
Click here to display 29 evidence detail records.
HumanHSPG23339heparan sulfate proteoglycan 2
Click here to display 29 evidence detail records.
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0002747abnormal aortic valve morphology0self