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Details
Link-It Detail - Human Phenotype - Abnormality of the lumbar spine
Debug Stats
  • ### Total Build Time: 29 ms 12.670 KB
  • CONCEPT_NAME gt=14 ms Completed: 14 ms rowSize= 206 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= 456 bytes
  • CONCEPT_CHILDREN gt=1 ms Completed: 1 ms rowSize= 1.064 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 2.107 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 7.682 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.025 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the lumbar spine HP:0100712
Parents (1)
img Abnormality of the vertebral column HP:0000925
Children (3)
img Lumbosacral meningocele HP:0200133
img Thoracolumbar kyphosis HP:0005619
img Lumbar kyphosis HP:0008454
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the vertebral column HP:0000925
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the vertebral column HP:0000925
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanBMPER168667BMP binding endothelial regulator
img HP RolledUp, OMIM ID: 608022
HumanAMER1139285APC membrane recruitment protein 1
img HP RolledUp, OMIM ID: 300373
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
HumanSC5D6309sterol-C5-desaturase
img HP RolledUp, OMIM ID: 607330
HumanRPS6KA36197ribosomal protein S6 kinase, 90kDa, polypeptide 3
img HP RolledUp, OMIM ID: 303600
HumanNPR24882natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)
img HP RolledUp, OMIM ID: 602875
HumanMGAT24247mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
HumanMAN2B14125mannosidase, alpha, class 2B, member 1
img HP RolledUp, OMIM ID: 248500
HumanGUSB2990glucuronidase, beta
img HP RolledUp, OMIM ID: 253220
HumanFGFR32261fibroblast growth factor receptor 3
HumanCOL2A11280collagen, type II, alpha 1
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0100712Abnormality of the lumbar spine0self