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Details
Link-It Detail - Human Phenotype - Abnormality of the long tubular bones
Debug Stats
  • ### Total Build Time: 26 ms 28.877 KB
  • CONCEPT_NAME gt=1 ms Completed: 0 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=1 ms Completed: 1 ms rowSize= 14 bytes
  • CONCEPT_NAMESPACE gt=0 Completed: 0 ms rowSize= 168 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 453 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 4.954 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 1.168 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 20.766 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.031 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the long tubular bones HP:0100714
Namespace (1)
medical_genetics
Parents (1)
img Abnormality of the tubular bones HP:0100713
Children (15)
img Fractures of the long bones HP:0003084
img Thickened cortex of long bones HP:0000935
img Short long bones HP:0003026
img Dumbbell-shaped long bone HP:0000947
img Slender long bone HP:0003100
img Phocomelia HP:0009829
img Metaphyseal chondrodysplasia of long bones HP:0006377
img Severe metaphyseal changes of long bones HP:0006427
img Bowing of the long bones HP:0006487
img Broad long bones HP:0005622
img Abnormality of the medullary cavity of the long bones HP:0100253
img Diaphyseal bowing of long bones HP:0005908
img Crumpled long bones HP:0006367
img Increased density of long bones HP:0006392
img Osteopathia striata HP:0010740
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the tubular bones HP:0100713
Genes (230)

Species:
human : 230
Page Size
Current 25
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SpeciesGeneGeneIdGene NameEvidence
HumanDUP17Q23.1Q23.2100526743
img HP RolledUp, OMIM ID: 613618
HumanDEL8Q13100526741Mesomelia-synostoses syndrome
HumanRCHTS100462676Roifman-Chitayat syndrome
img HP RolledUp, OMIM ID: 613328
HumanC22DDELS100188856Chromosome 22q11.2 deletion syndrome, distal
img HP RolledUp, OMIM ID: 611867
HumanHBD100187828hypophosphatemic bone disease
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
HumanSHFL1791121Split-hand/foot malformation with long bone deficiency 1
HumanLCRB387281locus control region, beta
img HP RolledUp, OMIM ID: 613985
HumanSH3PXD2B285590SH3 and PX domains 2B
img HP RolledUp, OMIM ID: 249420
HumanDOK7285489docking protein 7
img HP RolledUp, OMIM ID: 208150
HumanMMEDF260403Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
img HP RolledUp, OMIM ID: 607131
HumanHYLS1219844hydrolethalus syndrome 1
HumanANO5203859anoctamin 5
img HP RolledUp, OMIM ID: 166260
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img HP RolledUp, OMIM ID: 216550
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img HP RolledUp, OMIM ID: 268300
HumanB3GALTL145173beta 1,3-galactosyltransferase-like
img HP RolledUp, OMIM ID: 261540
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
HumanAMER1139285APC membrane recruitment protein 1
img HP RolledUp, OMIM ID: 300373
HumanEVC2132884Ellis van Creveld syndrome 2
img HP RolledUp, OMIM ID: 225500
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
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
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
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0100714Abnormality of the long tubular bones0self