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Details
Link-It Detail - Human Phenotype - Abnormality of the calf musculature
Debug Stats
  • ### Total Build Time: 16 ms 29.301 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 210 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= 796 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 2.028 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.937 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 20.180 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.029 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the calf musculature HP:0001430
Parents (2)
img Abnormality of the musculature of the lower limbs HP:0001437
img Abnormality of the calf HP:0002981
Children (6)
img Calf hypertrophy HP:0003703
img Calf muscle pseudohypertrophy HP:0003707
img Scapuloperoneal myopathy HP:0009054
img Peroneal muscle atrophy HP:0009049
img Calf muscle hypoplasia HP:0008962
img Calf muscle hypertrophy HP:0008981
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the musculature of the lower limbs HP:0001437
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the musculature of the lower limbs HP:0001437
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the musculature of the lower limbs HP:0001437
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the calf HP:0002981
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the calf HP:0002981
Genes (23)

Species:
human : 23
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
HumanANO5203859anoctamin 5
img HP RolledUp, OMIM ID: 611307
HumanFKRP79147fukutin related protein
img HP RolledUp, OMIM ID: 607155
img HP RolledUp, OMIM ID: 606612
HumanTRPV459341transient receptor potential cation channel, subfamily V, member 4
img HP RolledUp, OMIM ID: 181405
HumanTRIM3222954tripartite motif containing 32
img HP RolledUp, OMIM ID: 254110
HumanTCAP8557titin-cap
img HP RolledUp, OMIM ID: 601954
HumanSPPM8090scapuloperoneal syndrome, myopathic type
img HP RolledUp, OMIM ID: 181430
HumanTTN7273titin
img HP RolledUp, OMIM ID: 611705
HumanSGCG6445sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
img HP RolledUp, OMIM ID: 253700
HumanSGCB6443sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
img HP RolledUp, OMIM ID: 604286
HumanSGCA6442sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
img HP RolledUp, OMIM ID: 608099
HumanMYH74625myosin, heavy chain 7, cardiac muscle, beta
img HP RolledUp, OMIM ID: 608358
img HP RolledUp, OMIM ID: 181430
HumanMYF64618myogenic factor 6 (herculin)
img HP RolledUp, OMIM ID: 300376
img HP RolledUp, OMIM ID: 310200
HumanLMNA4000lamin A/C
img HP RolledUp, OMIM ID: 181350
HumanFSHMD1A2489facioscapulohumeral muscular dystrophy 1A
img HP RolledUp, OMIM ID: 158900
HumanFLNC2318filamin C, gamma
img HP IEA, OMIM ID: 614065
HumanFKTN2218fukutin
img HP RolledUp, OMIM ID: 253800
HumanFBN22201fibrillin 2
img HP RolledUp, OMIM ID: 121050
HumanDMD1756dystrophin
img HP RolledUp, OMIM ID: 310200
img HP RolledUp, OMIM ID: 300376
HumanDES1674desmin
img HP RolledUp, OMIM ID: 181400
HumanCAV3859caveolin 3
img HP RolledUp, OMIM ID: 614321
img HP RolledUp, OMIM ID: 607801
HumanAR367androgen receptor
img HP RolledUp, OMIM ID: 313200
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001430Abnormality of the calf musculature0self