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Details
Link-It Detail - Human Phenotype - Abnormal tendon morphology
Debug Stats
  • ### Total Build Time: 19 ms 21.248 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 201 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 248 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= 1.102 KB
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.399 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 3.040 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 14.104 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal tendon morphology HP:0100261
Definition (1)
An abnormality of the structure or form of the `tendons` (FMA:9721), also often called sinews.
Parents (3)
img Abnormality of skeletal morphology HP:0011842
img Abnormality of the skeletal system HP:0000924
img Abnormality of connective tissue HP:0003549
Children (4)
img Abnormality of the Achilles tendon HP:0005109
img Digital flexor tenosynovitis HP:0012276
img Rupture of tendons HP:0100550
img Tendon xanthomatosis HP:0010874
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of skeletal morphology HP:0011842
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the skeletal system HP:0000924
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of connective tissue HP:0003549
Genes (21)

Species:
human : 21
SpeciesGeneGeneIdGene NameEvidence
HumanMRT5100188831mental retardation, non-syndromic, autosomal recessive, 5
img HP RolledUp, OMIM ID: 611091
HumanFKRP79147fukutin related protein
HumanALS257679amyotrophic lateral sclerosis 2 (juvenile)
HumanNSUN254888NOP2/Sun RNA methyltransferase family, member 2
img HP RolledUp, OMIM ID: 611091
HumanMDC1B53368Muscular dystrophy, congenital, 1B
HumanLDLRAP126119low density lipoprotein receptor adaptor protein 1
img HP RolledUp, OMIM ID: 603813
HumanABHD1226090abhydrolase domain containing 12
img HP RolledUp, OMIM ID: 612674
HumanMYOT9499myotilin
HumanLARGE9215like-glycosyltransferase
HumanTTR7276transthyretin
img HP RolledUp, OMIM ID: 115430
HumanTTPA7274tocopherol (alpha) transfer protein
img HP RolledUp, OMIM ID: 277460
HumanTNXB7148tenascin XB
img HP TAS, OMIM ID: 130020
HumanLMNA4000lamin A/C
HumanKRAS3845Kirsten rat sarcoma viral oncogene homolog
img HP TAS, OMIM ID: 218040
HumanHRAS3265Harvey rat sarcoma viral oncogene homolog
img HP TAS, OMIM ID: 218040
HumanHGD3081homogentisate 1,2-dioxygenase
img HP TAS, OMIM ID: 203500
HumanGJB12705gap junction protein, beta 1, 32kDa
img HP RolledUp, OMIM ID: 302800
HumanEMD2010emerin
HumanCYP27A11593cytochrome P450, family 27, subfamily A, polypeptide 1
img HP RolledUp, OMIM ID: 213700
HumanCOL6A21292collagen, type VI, alpha 2
HumanCOL3A11281collagen, type III, alpha 1
img HP TAS, OMIM ID: 130020
img HP TAS, OMIM ID: 130050
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0100261Abnormal tendon morphology0self