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Details
Link-It Detail - Human Phenotype - Abnormality of the ankles
Debug Stats
  • ### Total Build Time: 31 ms 32.916 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 200 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=5 ms Completed: 5 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= 812 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 3.284 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.963 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 22.517 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.020 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the ankles HP:0003028
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 (10)
img Ankle clonus HP:0011448
img Increased laxity of ankles HP:0006460
img Ankle contracture HP:0006466
img Limitation of movement at ankles HP:0010505
img Talipes valgus HP:0004684
img Knee and ankle contractures HP:0004985
img Knee and ankle clonus HP:0002541
img Enlargement of the ankles HP:0003029
img Distal tibial bowing HP:0006414
img Ankle swelling HP:0001785
Ancestral Roots
RootRoot Plus OneDepthParent
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:00001189img 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:00001187img Abnormality of the joints of the lower limbs HP:0100239
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the joints of the lower limbs HP:0100239
Genes (51)

Species:
human : 51
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSPG43101234260spastic paraplegia 43 (autosomal recessive)
img HP RolledUp, OMIM ID: 615043
HumanSPG46100861438spastic paraplegia 46 (autosomal recessive)
img HP RolledUp, OMIM ID: 614409
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP TAS, OMIM ID: 300863
HumanDEL17P13.1100653374
img HP RolledUp, OMIM ID: 613776
HumanDEL8Q13100526741Mesomelia-synostoses syndrome
img HP TAS, OMIM ID: 600383
HumanSHFM3100049542Split-hand/foot malformation 3
img HP TAS, OMIM ID: 246560
HumanSPG37100049159spastic paraplegia 37 (autosomal dominant)
img HP RolledUp, OMIM ID: 611945
HumanSPG32724107spastic paraplegia 32 (autosomal recessive)
img HP RolledUp, OMIM ID: 611252
HumanAMCX5619510arthrogryposis, X-linked, type 5
img HP RolledUp, OMIM ID: 300158
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img HP RolledUp, OMIM ID: 268300
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
img HP RolledUp, OMIM ID: 241530
HumanSPG19140907spastic paraplegia 19 (autosomal dominant)
img HP RolledUp, OMIM ID: 607152
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
img HP RolledUp, OMIM ID: 600081
HumanZFYVE27118813zinc finger, FYVE domain containing 27
img HP RolledUp, OMIM ID: 610244
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP TAS, OMIM ID: 194050
HumanSLC52A3113278solute carrier family 52 (riboflavin transporter), member 3
img HP RolledUp, OMIM ID: 211530
HumanSPG1180208spastic paraplegia 11 (autosomal recessive)
img HP RolledUp, OMIM ID: 604360
HumanFA2H79152fatty acid 2-hydroxylase
img HP RolledUp, OMIM ID: 612319
HumanREEP165055receptor accessory protein 1
img HP RolledUp, OMIM ID: 610250
HumanGBA257704glucosidase, beta (bile acid) 2
img HP RolledUp, OMIM ID: 614409
HumanMLXIPL51085MLX interacting protein-like
img HP TAS, OMIM ID: 194050
HumanBRKS50963Telopeptide lysyl hydroxylase, bone-specific
img HP RolledUp, OMIM ID: 259450
HumanRAB3GAP225782RAB3 GTPase activating protein subunit 2 (non-catalytic)
img HP RolledUp, OMIM ID: 212720
HumanSPG2023111spastic paraplegia 20 (Troyer syndrome)
img HP RolledUp, OMIM ID: 275900
HumanMAFB9935v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
img HP RolledUp, OMIM ID: 166300
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003028Abnormality of the ankles0self