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Details
Link-It Detail - Human Phenotype - Abnormality of the Achilles tendon
Debug Stats
  • ### Total Build Time: 34 ms 19.916 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 209 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 206 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=5 ms Completed: 5 ms rowSize= 773 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 778 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 3.940 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 12.883 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.028 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the Achilles tendon HP:0005109
Definition (1)
An abnormality of the `Achilles tendon` (FMA:51061).
Parents (2)
img Abnormal tendon morphology HP:0100261
img Abnormality of the foot HP:0001760
Children (2)
img Achilles tendon contracture HP:0001771
img Thickened Achilles tendon HP:0004690
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormal tendon morphology HP:0100261
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormal tendon morphology HP:0100261
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the foot HP:0001760
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the foot HP:0001760
Genes (15)

Species:
human : 15
SpeciesGeneGeneIdGene NameEvidence
HumanMRT5100188831mental retardation, non-syndromic, autosomal recessive, 5
img HP RolledUp, OMIM ID: 611091
HumanFKRP79147fukutin related protein
img HP RolledUp, OMIM ID: 606612
img HP RolledUp, OMIM ID: 607155
HumanALS257679amyotrophic lateral sclerosis 2 (juvenile)
img HP RolledUp, OMIM ID: 607225
HumanNSUN254888NOP2/Sun RNA methyltransferase family, member 2
img HP RolledUp, OMIM ID: 611091
HumanMDC1B53368Muscular dystrophy, congenital, 1B
img HP RolledUp, OMIM ID: 604801
HumanABHD1226090abhydrolase domain containing 12
img HP RolledUp, OMIM ID: 612674
HumanMYOT9499myotilin
img HP RolledUp, OMIM ID: 609200
img HP RolledUp, OMIM ID: 159000
HumanLARGE9215like-glycosyltransferase
img HP RolledUp, OMIM ID: 608840
HumanLMNA4000lamin A/C
img HP RolledUp, OMIM ID: 181350
HumanKRAS3845Kirsten rat sarcoma viral oncogene homolog
img HP RolledUp, OMIM ID: 218040
HumanHRAS3265Harvey rat sarcoma viral oncogene homolog
img HP RolledUp, OMIM ID: 218040
HumanHGD3081homogentisate 1,2-dioxygenase
img HP RolledUp, OMIM ID: 203500
HumanGJB12705gap junction protein, beta 1, 32kDa
img HP RolledUp, OMIM ID: 302800
HumanEMD2010emerin
img HP RolledUp, OMIM ID: 310300
HumanCOL6A21292collagen, type VI, alpha 2
img HP RolledUp, OMIM ID: 255600
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0005109Abnormality of the Achilles tendon0self