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Details
Link-It Detail - Human Phenotype - Abnormality of the calcaneus
Debug Stats
  • ### Total Build Time: 27 ms 21.299 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 203 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 325 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=2 ms Completed: 2 ms rowSize= 452 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.390 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.101 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 15.685 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.022 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the calcaneus HP:0008364
Definition (1)
An abnormality of the `calcaneus`(FMA:24496), also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.
Parents (1)
img Abnormality of the tarsal bones HP:0001850
Children (4)
img Calcaneovalgus deformity HP:0001848
img Delayed calcaneal ossification HP:0008142
img Bipartite calcaneus HP:0008127
img Equinus calcaneus HP:0008138
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:000011810img Abnormality of the tarsal bones HP:0001850
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the tarsal bones HP:0001850
Genes (19)

Species:
human : 19
SpeciesGeneGeneIdGene NameEvidence
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP IEA, OMIM ID: 300863
HumanDEL2P16.1-P15100240740
img HP RolledUp, OMIM ID: 612513
HumanLRSL406214Larsen-like syndrome
img HP RolledUp, OMIM ID: 608545
HumanNSD164324nuclear receptor binding SET domain protein 1
img HP RolledUp, OMIM ID: 277590
HumanRAB3GAP225782RAB3 GTPase activating protein subunit 2 (non-catalytic)
img HP RolledUp, OMIM ID: 212720
HumanECEL19427endothelin converting enzyme-like 1
img HP RolledUp, OMIM ID: 615065
HumanTPM27169tropomyosin 2 (beta)
img HP RolledUp, OMIM ID: 108120
img HP RolledUp, OMIM ID: 601680
HumanTNNT37140troponin T type 3 (skeletal, fast)
img HP RolledUp, OMIM ID: 601680
HumanTNNI27136troponin I type 2 (skeletal, fast)
img HP RolledUp, OMIM ID: 601680
HumanCHMP1A5119charged multivesicular body protein 1A
img HP RolledUp, OMIM ID: 614961
HumanMYH34621myosin, heavy chain 3, skeletal muscle, embryonic
img HP RolledUp, OMIM ID: 601680
HumanLIFR3977leukemia inhibitory factor receptor alpha
img HP RolledUp, OMIM ID: 601559
HumanLBR3930lamin B receptor
img HP PCS, OMIM ID: 215140
HumanHOXD103236homeobox D10
img HP RolledUp, OMIM ID: 192950
HumanFLNB2317filamin B, beta
img HP RolledUp, OMIM ID: 150250
HumanFLNA2316filamin A, alpha
img HP RolledUp, OMIM ID: 311300
HumanEZH22146enhancer of zeste homolog 2 (Drosophila)
img HP RolledUp, OMIM ID: 277590
HumanCOL2A11280collagen, type II, alpha 1
img HP RolledUp, OMIM ID: 183900
HumanCOL1A21278collagen, type I, alpha 2
img HP RolledUp, OMIM ID: 225320
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0008364Abnormality of the calcaneus0self