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Details
Link-It Detail - Human Phenotype - Abnormality of the elbow
Debug Stats
  • ### Total Build Time: 39 ms 33.261 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 199 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=4 ms Completed: 4 ms rowSize= 465 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 5.332 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 3.071 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=20 ms Completed: 20 ms rowSize= 23.046 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.019 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the elbow HP:0009811
Parents (1)
img Abnormality of the joints of the upper limbs HP:0009810
Children (16)
img Humeroradial synostosis HP:0003041
img Synostosis involving the elbow HP:0003938
img Irregular articular surfaces of the elbow joints HP:0003945
img Elbow ankylosis HP:0003070
img Limited elbow movement HP:0002996
img Abnormality of the humeroulnar joint HP:0100745
img Cubitus valgus HP:0002967
img Increased carrying angle HP:0003102
img Abnormality of the elbow metaphyses HP:0003949
img Elbow dislocation HP:0003042
img Abnormality of the epiphyses of the elbow HP:0003946
img Osteoarthritis of the elbow HP:0003940
img Stippled calcification of the elbow HP:0003941
img Abnormality of the joint spaces of the elbow HP:0003943
img Synovial chondromatosis of the elbow HP:0003942
img Abnormality of the humeroradial joint HP:0100744
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the joints of the upper limbs HP:0009810
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the joints of the upper limbs HP:0009810
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the joints of the upper limbs HP:0009810
Genes (138)

Species:
human : 138
Page Size
Current 25
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SpeciesGeneGeneIdGene NameEvidence
HumanDEL17P13.1100653374
img HP RolledUp, OMIM ID: 613776
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
img HP RolledUp, OMIM ID: 210710
HumanTQDS780911Chromosome 10q deletion syndrome
img HP RolledUp, OMIM ID: 609625
HumanCVMRF494028cubitus valgus with mental retardation and unusual facies
img HP RolledUp, OMIM ID: 300471
HumanGDF6392255growth differentiation factor 6
img HP RolledUp, OMIM ID: 118100
HumanIFITM5387733interferon induced transmembrane protein 5
img HP RolledUp, OMIM ID: 610967
HumanDOK7285489docking protein 7
img HP RolledUp, OMIM ID: 208150
HumanSUMF1285362sulfatase modifying factor 1
img HP RolledUp, OMIM ID: 272200
HumanASXL1171023additional sex combs like 1 (Drosophila)
img HP RolledUp, OMIM ID: 605039
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
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
HumanMRSS114890Mental retardation, X-linked, with short stature
img HP RolledUp, OMIM ID: 300360
HumanSCARF291179scavenger receptor class F, member 2
img HP RolledUp, OMIM ID: 600920
HumanSRD5A379644steroid 5 alpha-reductase 3
img HP RolledUp, OMIM ID: 612713
HumanCOLEC1178989collectin sub-family member 11
img HP RolledUp, OMIM ID: 265050
HumanSIL164374SIL1 nucleotide exchange factor
img HP RolledUp, OMIM ID: 248800
HumanNSD164324nuclear receptor binding SET domain protein 1
img HP RolledUp, OMIM ID: 277590
HumanSMOC164093SPARC related modular calcium binding 1
img HP RolledUp, OMIM ID: 206920
HumanTRPV459341transient receptor potential cation channel, subfamily V, member 4
img HP RolledUp, OMIM ID: 600175
HumanMRXSA57791Armfield X-linked mental retardation syndrome
img HP TAS, OMIM ID: 300261
HumanSALL457167sal-like 4 (Drosophila)
img HP RolledUp, OMIM ID: 147750
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0009811Abnormality of the elbow0self