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Details
Link-It Detail - Human Phenotype - Abnormal diaphysis morphology
Debug Stats
  • ### Total Build Time: 22 ms 24.627 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 204 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 268 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= 793 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 3.077 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.106 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 17.040 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.023 KB
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  • Reload Stats
Human Phenotype (1)
Abnormal diaphysis morphology HP:0000940
Definition (1)
An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.
Parents (2)
img Abnormality of the skeletal system HP:0000924
img Abnormality of long bone morphology HP:0011314
Children (9)
img Short diaphyses HP:0000941
img Diaphyseal sclerosis HP:0003034
img Diaphyseal thickening HP:0005019
img Cortical thickening of long bone diaphyses HP:0005791
img Metatarsal diaphyseal endosteal sclerosis HP:0008114
img Abnormality of the medullary cavity of the long bones HP:0100253
img Abnormality involving the diaphyses of the limbs HP:0006504
img Slender long bones with narrow diaphyses HP:0004993
img Diaphyseal dysplasia HP:0100252
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the skeletal system HP:0000924
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of long bone morphology HP:0011314
Genes (140)

Species:
human : 140
Page Size
Current 25
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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
HumanANTXR2118429anthrax toxin receptor 2
img HP TAS, OMIM ID: 228600
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: 127000
img HP RolledUp, OMIM ID: 602361
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000940Abnormal diaphysis morphology0self