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Details
Link-It Detail - Human Phenotype - Abnormality of the knees
Debug Stats
  • ### Total Build Time: 66 ms 36.468 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 199 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 213 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=10 ms Completed: 10 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 812 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 5.797 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.963 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=38 ms Completed: 38 ms rowSize= 23.350 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.019 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the knees HP:0002815
Definition (1)
An abnormality of the knee joint or surrounding structures.
Parents (2)
img Abnormality of the joints of the lower limbs HP:0100491
img Abnormality of the joints of the lower limbs HP:0100239
Children (18)
img Knee osteoarthritis HP:0005086
img Knee dislocation HP:0004976
img Genu recurvatum HP:0002816
img Flattened knee epiphyses HP:0005715
img Ankle clonus HP:0011448
img Genu varus HP:0003052
img Knee contractures HP:0002978
img Genu varum HP:0002970
img Abnormality of the patella HP:0003045
img Limited knee movement HP:0005192
img Limited knee extension HP:0003066
img Knee and ankle clonus HP:0002541
img Absent knee epiphyses HP:0006400
img Hyperactive patellar reflex HP:0007083
img Genu valgum HP:0002857
img Knee flexion contracture HP:0006380
img Hyperextensibility of the knee HP:0010500
img Limitation of knee mobility HP:0010501
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the joints of the lower limbs HP:0100491
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the joints of the lower limbs HP:0100491
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the joints of the lower limbs HP:0100491
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the joints of the lower limbs HP:0100239
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the joints of the lower limbs HP:0100239
Genes (178)

Species:
human : 178
Page Size
Current 25
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SpeciesGeneGeneIdGene NameEvidence
HumanSPG43101234260spastic paraplegia 43 (autosomal recessive)
img HP RolledUp, OMIM ID: 615043
HumanSPG46100861438spastic paraplegia 46 (autosomal recessive)
img HP RolledUp, OMIM ID: 614409
HumanDEL17P13.1100653374
img HP RolledUp, OMIM ID: 613776
HumanKONDS100653373Kondoh syndrome
img HP RolledUp, OMIM ID: 606242
HumanDUP17Q23.1Q23.2100526743
img HP RolledUp, OMIM ID: 613618
HumanDEL8Q13100526741Mesomelia-synostoses syndrome
img HP RolledUp, OMIM ID: 600383
HumanDEL17Q23.1Q23.2100415941
img HP RolledUp, OMIM ID: 613355
HumanCAMPD1100381210Camptodactyly 1
img HP RolledUp, OMIM ID: 114200
HumanDEL2P16.1-P15100240740
img HP RolledUp, OMIM ID: 612513
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
img HP RolledUp, OMIM ID: 210710
HumanSPG37100049159spastic paraplegia 37 (autosomal dominant)
img HP RolledUp, OMIM ID: 611945
HumanSHFL1791121Split-hand/foot malformation with long bone deficiency 1
img HP RolledUp, OMIM ID: 119100
HumanSPG32724107spastic paraplegia 32 (autosomal recessive)
img HP RolledUp, OMIM ID: 611252
HumanAMCX5619510arthrogryposis, X-linked, type 5
img HP RolledUp, OMIM ID: 300158
HumanCMT2H619496Charcot-Marie-Tooth disease, axonal, type 2H
img HP RolledUp, OMIM ID: 607731
HumanLCRB387281locus control region, beta
img HP RolledUp, OMIM ID: 613985
HumanSH3PXD2B285590SH3 and PX domains 2B
img HP RolledUp, OMIM ID: 249420
HumanMMEDF260403Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
img HP RolledUp, OMIM ID: 607131
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
img HP RolledUp, OMIM ID: 269000
HumanMIPOL1145282mirror-image polydactyly 1
img HP RolledUp, OMIM ID: 135750
HumanSPG19140907spastic paraplegia 19 (autosomal dominant)
img HP RolledUp, OMIM ID: 607152
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
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0002815Abnormality of the knees0self