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Details
Link-It Detail - Human Phenotype - Abnormality involving the diaphyses of the limbs
Debug Stats
  • ### Total Build Time: 28 ms 25.533 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 223 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=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=2 ms Completed: 2 ms rowSize= 788 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 3.088 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 3.970 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 16.302 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.042 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality involving the diaphyses of the limbs HP:0006504
Parents (2)
img Abnormal diaphysis morphology HP:0000940
img Abnormality of limb bone morphology HP:0002813
Children (9)
img Thin diaphyses of long bones HP:0006470
img Abnormality involving the diaphyses of the upper limbs HP:0009808
img Bowing of the long bones HP:0006487
img Increased density of long bone diaphyses HP:0006440
img Abnormalities of the diaphyses of the hand HP:0005925
img Broad long bone diaphyses HP:0006371
img Diaphyseal bowing of long bones HP:0005908
img Abnormality of radial diaphysis HP:0004027
img Abnormality of the humeral diaphysis HP:0003926
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormal diaphysis morphology HP:0000940
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormal diaphysis morphology HP:0000940
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of limb bone morphology HP:0002813
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of limb bone morphology HP:0002813
Genes (131)

Species:
human : 131
Page Size
Current 25
  Page 1 of 6
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDUP17Q23.1Q23.2100526743
HumanDEL8Q13100526741Mesomelia-synostoses syndrome
HumanC22DDELS100188856Chromosome 22q11.2 deletion syndrome, distal
img HP RolledUp, OMIM ID: 611867
HumanHBD100187828hypophosphatemic bone disease
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
HumanLCRB387281locus control region, beta
HumanSH3PXD2B285590SH3 and PX domains 2B
img HP RolledUp, OMIM ID: 249420
HumanMMEDF260403Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
HumanANO5203859anoctamin 5
img HP RolledUp, OMIM ID: 166260
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
HumanEVC2132884Ellis van Creveld syndrome 2
HumanB3GALT6126792UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
HumanCANT1124583calcium activated nucleotidase 1
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
HumanC12orf57113246chromosome 12 open reading frame 57
HumanSCARF291179scavenger receptor class F, member 2
img HP RolledUp, OMIM ID: 600920
HumanGNPTG84572N-acetylglucosamine-1-phosphate transferase, gamma subunit
HumanCTC180169CTS telomere maintenance complex component 1
HumanNSD164324nuclear receptor binding SET domain protein 1
HumanLEPRE164175leucine proline-enriched proteoglycan (leprecan) 1
HumanSMOC164093SPARC related modular calcium binding 1
img HP RolledUp, OMIM ID: 206920
HumanFAM111A63901family with sequence similarity 111, member A
img HP RolledUp, OMIM ID: 602361
HumanFKBP1060681FK506 binding protein 10, 65 kDa
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0006504Abnormality involving the diaphyses of the limbs0self