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Details
Link-It Detail - Human Phenotype - Abnormality of the calf
Debug Stats
  • ### Total Build Time: 26 ms 28.962 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 198 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 240 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=3 ms Completed: 3 ms rowSize= 450 bytes
  • CONCEPT_CHILDREN gt=1 ms Completed: 1 ms rowSize= 1.088 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.096 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 23.749 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.018 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the calf HP:0002981
Definition (1)
An abnormality of the `calf` (FMA:24984), i.e. of the posterior part of the lower leg.
Parents (1)
img Abnormality of the lower limb HP:0002814
Children (3)
img Abnormality of the fibula HP:0002991
img Abnormality of the tibia HP:0002992
img Abnormality of the calf musculature HP:0001430
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
Genes (80)

Species:
human : 80
Page Size
Current 25
  Page 1 of 4
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSMAJ101241900Spinal muscular atrophy, Jokela type
img HP RolledUp, OMIM ID: 615048
HumanLGMD1H100529230limb girdle muscular dystrophy 1H (autosomal dominant)
img HP RolledUp, OMIM ID: 613530
HumanDEL8Q13100526741Mesomelia-synostoses syndrome
img HP RolledUp, OMIM ID: 600383
HumanSHFL1791121Split-hand/foot malformation with long bone deficiency 1
img HP RolledUp, OMIM ID: 119100
HumanHYLS1219844hydrolethalus syndrome 1
img HP RolledUp, OMIM ID: 236680
HumanANO5203859anoctamin 5
img HP RolledUp, OMIM ID: 611307
HumanMIPOL1145282mirror-image polydactyly 1
img HP RolledUp, OMIM ID: 135750
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
img HP RolledUp, OMIM ID: 241530
HumanAMER1139285APC membrane recruitment protein 1
img HP RolledUp, OMIM ID: 300373
HumanCANT1124583calcium activated nucleotidase 1
img HP RolledUp, OMIM ID: 251450
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
img HP RolledUp, OMIM ID: 600081
HumanDYNC2H179659dynein, cytoplasmic 2, heavy chain 1
img HP RolledUp, OMIM ID: 615087
img HP RolledUp, OMIM ID: 263520
HumanFKRP79147fukutin related protein
img HP RolledUp, OMIM ID: 607155
img HP RolledUp, OMIM ID: 606612
HumanLMBR164327limb development membrane protein 1
img HP RolledUp, OMIM ID: 186200
img HP RolledUp, OMIM ID: 200500
HumanLEPRE164175leucine proline-enriched proteoglycan (leprecan) 1
img HP RolledUp, OMIM ID: 610915
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: 181405
HumanIFT12255764intraflagellar transport 122 homolog (Chlamydomonas)
img HP RolledUp, OMIM ID: 218330
HumanCHD755636chromodomain helicase DNA binding protein 7
img HP RolledUp, OMIM ID: 214800
HumanTCTN326123tectonic family member 3
img HP RolledUp, OMIM ID: 258860
HumanSETBP126040SET binding protein 1
img HP RolledUp, OMIM ID: 269150
HumanSLC35D123169solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
img HP RolledUp, OMIM ID: 269250
HumanTRIM3222954tripartite motif containing 32
img HP RolledUp, OMIM ID: 254110
HumanGPC610082glypican 6
img HP RolledUp, OMIM ID: 258315
HumanRBM8A9939RNA binding motif protein 8A
img HP RolledUp, OMIM ID: 274000
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0002981Abnormality of the calf0self