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Details
Link-It Detail - Human Phenotype - Abnormality of the joints of the lower limbs
Debug Stats
  • ### Total Build Time: 39 ms 30.375 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 219 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=0 Completed: 0 ms rowSize= 778 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 2.407 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 3.950 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=31 ms Completed: 31 ms rowSize= 21.861 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.038 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the joints of the lower limbs HP:0100491
Parents (2)
img Abnormality of the lower limb HP:0002814
img Abnormal joint morphology HP:0001367
Children (7)
img Synostosis involving bones of the lower limbs HP:0009138
img Joint contractures involving the joints of the feet HP:0100492
img Abnormality of the ankles HP:0003028
img Abnormality of the hip joint HP:0001384
img Abnormality of the hip bone HP:0003272
img Abnormality of the knees HP:0002815
img Limited hip extension HP:0003093
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the lower limb HP:0002814
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the lower limb HP:0002814
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormal joint morphology HP:0001367
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormal joint morphology HP:0001367
Genes (435)

Species:
human : 435
Page Size
Current 25
  Page 1 of 18
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSPG43101234260spastic paraplegia 43 (autosomal recessive)
img HP RolledUp, OMIM ID: 615043
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP RolledUp, OMIM ID: 608156
HumanCATMANS100862706Catel-Manzke syndrome
img HP RolledUp, OMIM ID: 302380
HumanSPG46100861438spastic paraplegia 46 (autosomal recessive)
img HP RolledUp, OMIM ID: 614409
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP RolledUp, OMIM ID: 300863
HumanDEL2Q23.1100820633
img HP RolledUp, OMIM ID: 156200
HumanDEL8Q21.11100689491
img HP RolledUp, OMIM ID: 614230
HumanDEL17P13.1100653374
img HP RolledUp, OMIM ID: 613776
HumanKONDS100653373Kondoh syndrome
HumanDER22T11-22100529146
HumanDUP17Q23.1Q23.2100526743
img HP RolledUp, OMIM ID: 613618
HumanDEL16P12.1P11.2100526742
img HP RolledUp, OMIM ID: 613604
HumanDEL8Q13100526741Mesomelia-synostoses syndrome
img HP RolledUp, OMIM ID: 600383
HumanDUP16P13.3100505393
img HP RolledUp, OMIM ID: 613458
HumanDEL6Q24Q25100505391Chromosome 6q25-q25 deletion syndrome
img HP RolledUp, OMIM ID: 612863
HumanDEL15Q24100502567Chromosome 15q24 deletion syndrome
img HP RolledUp, OMIM ID: 613406
HumanDEL17Q23.1Q23.2100415941
img HP RolledUp, OMIM ID: 613355
HumanCAMPD1100381210Camptodactyly 1
img HP RolledUp, OMIM ID: 114200
HumanDUP17P13.3100379203
img HP RolledUp, OMIM ID: 613215
HumanDEL19Q13.11100306978
img HP RolledUp, OMIM ID: 613026
HumanDEL6PTER100270803Chromosome 6pter deletion syndrome
HumanDEL9P100240748Chromosome 9p deletion syndrome
img HP RolledUp, OMIM ID: 158170
HumanDEL2P16.1-P15100240740
img HP RolledUp, OMIM ID: 612513
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanDUP1Q21100217371Chromosome 1q21.1 duplication syndrome
img HP RolledUp, OMIM ID: 612475
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0100491Abnormality of the joints of the lower limbs0self