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Details
Link-It Detail - Human Phenotype - Abnormal form of the vertebral bodies
Debug Stats
  • ### Total Build Time: 72 ms 39.500 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 212 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=5 ms Completed: 5 ms rowSize= 449 bytes
  • CONCEPT_CHILDREN gt=24 ms Completed: 24 ms rowSize= 12.171 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=9 ms Completed: 9 ms rowSize= 2.094 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=28 ms Completed: 28 ms rowSize= 23.414 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.031 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal form of the vertebral bodies HP:0003312
Parents (1)
img Abnormality of the vertebrae HP:0003468
Children (37)
img Biconcave vertebral bodies HP:0004586
img Patchy distortion of vertebrae HP:0004609
img Sandwich appearance of vertebral bodies HP:0004618
img Biconvex vertebral bodies HP:0004625
img Vertebral clefting HP:0008428
img Asymmetry of spinal facet joints HP:0008482
img Anisospondyly HP:0002879
img Pear-shaped vertebrae HP:0004566
img Bifid thoracic vertebrae HP:0008437
img Vertebral arch abnormalities HP:0008438
img Narrow anterio-posterior vertebral body diameter HP:0008473
img Scalloping of vertebral bodies HP:0004620
img Vertebral wedging HP:0008422
img Hyperconvex vertebral body endplates HP:0004603
img Ovoid vertebral bodies HP:0003300
img Small vertebral bodies HP:0002773
img Anterior concavity of thoracic vertebrae HP:0004611
img Decreased anterioposterior diameter of lumbar vertebral bodies HP:0005638
img Narrow vertebral interpedicular distance HP:0008450
img Tall lumbar vertebral bodies HP:0008421
img Hemivertebrae HP:0002937
img Block vertebrae HP:0003305
img Irregularity of vertebral bodies HP:0004582
img Increased vertebral height HP:0004570
img Beaking of vertebral bodies HP:0004568
img Disc-like vertebral bodies HP:0004591
img Codfish vertebrae HP:0002952
img Platyspondyly HP:0000926
img Cuboid-shaped vertebral bodies HP:0004634
img Abnormality of the vertebral spinous processes HP:0008516
img Tongue-like lumbar vertebral deformities HP:0005680
img Disproportionately tall vertebral bodies HP:0005693
img Butterfly vertebrae HP:0003316
img Abnormality of the vertebral endplates HP:0005106
img Trapezoidal shaped vertebral bodies HP:0005621
img Anterior tongue-like protrusion of lumbar vertebral bodies HP:0005664
img Anterior rounding of vertebral bodies HP:0008488
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the vertebrae HP:0003468
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the vertebrae HP:0003468
Genes (154)

Species:
human : 154
Page Size
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SpeciesGeneGeneIdGene NameEvidence
HumanDUP17Q12100884129Chromosome 17q12 duplication syndrome
img HP TAS, OMIM ID: 614526
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP RolledUp, OMIM ID: 300863
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
img HP RolledUp, OMIM ID: 210710
HumanLRSL406214Larsen-like syndrome
img HP TAS, OMIM ID: 608545
HumanGDF6392255growth differentiation factor 6
img HP RolledUp, OMIM ID: 122600
HumanIFITM5387733interferon induced transmembrane protein 5
img HP RolledUp, OMIM ID: 610967
HumanZLS353173Zimmerman-Laband Syndrome
img HP TAS, OMIM ID: 135500
HumanSH3PXD2B285590SH3 and PX domains 2B
img HP RolledUp, OMIM ID: 249420
HumanHFM170474Hemifacial microsomia
img HP TAS, OMIM ID: 164210
HumanMESP2145873mesoderm posterior 2 homolog (mouse)
img HP RolledUp, OMIM ID: 277300
HumanB3GALTL145173beta 1,3-galactosyltransferase-like
img HP RolledUp, OMIM ID: 261540
HumanHGSNAT138050heparan-alpha-glucosaminide N-acetyltransferase
img HP RolledUp, OMIM ID: 252930
HumanB3GALT6126792UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
img HP RolledUp, OMIM ID: 271640
HumanCANT1124583calcium activated nucleotidase 1
img HP RolledUp, OMIM ID: 251450
HumanDBA2114086Diamond-Blackfan anemia 2
img HP RolledUp, OMIM ID: 105650
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP TAS, OMIM ID: 194050
HumanGORAB92344golgin, RAB6-interacting
img HP RolledUp, OMIM ID: 231070
HumanSLC39A1391252solute carrier family 39 (zinc transporter), member 13
img HP RolledUp, OMIM ID: 612350
HumanHES784667hairy and enhancer of split 7 (Drosophila)
img HP RolledUp, OMIM ID: 613686
HumanCCDC883987coiled-coil domain containing 8
img HP RolledUp, OMIM ID: 614205
HumanVANGL181839VANGL planar cell polarity protein 1
img HP TAS, OMIM ID: 600145
img HP RolledUp, OMIM ID: 182940
HumanFUZ80199fuzzy planar cell polarity protein
img HP RolledUp, OMIM ID: 182940
HumanDYNC2H179659dynein, cytoplasmic 2, heavy chain 1
img HP TAS, OMIM ID: 263510
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img HP RolledUp, OMIM ID: 252500
HumanLEPRE164175leucine proline-enriched proteoglycan (leprecan) 1
img HP RolledUp, OMIM ID: 610915
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003312Abnormal form of the vertebral bodies0self