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Details
Link-It Detail - Human Phenotype - Abnormal elasticity of skin
Debug Stats
  • ### Total Build Time: 230 ms 21.931 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 202 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=4 ms Completed: 4 ms rowSize= 777 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 1.074 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 3.023 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=217 ms Completed: 217 ms rowSize= 15.711 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal elasticity of skin HP:0010647
Parents (2)
img Abnormality of skin morphology HP:0011121
img Abnormality of the skin HP:0000951
Children (3)
img Soft skin HP:0000977
img Abnormally lax or hyperextensible skin HP:0008067
img Lack of skin elasticity HP:0100679
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of skin morphology HP:0011121
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of skin morphology HP:0011121
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the skin HP:0000951
Genes (111)

Species:
human : 111
Page Size
Current 25
  Page 1 of 5
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP RolledUp, OMIM ID: 608156
HumanDEL18P100240747Chromosome 18p deletion syndrome
HumanEDS8791254Ehlers-Danlos syndrome, type VIII
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
HumanB3GALT6126792UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP RolledUp, OMIM ID: 194050
HumanCHST14113189carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
HumanIFT43112752intraflagellar transport 43 homolog (Chlamydomonas)
HumanGORAB92344golgin, RAB6-interacting
HumanSLC39A1391252solute carrier family 39 (zinc transporter), member 13
HumanZNF46984627zinc finger protein 469
HumanANTXR184168anthrax toxin receptor 1
HumanSLC2A1081031solute carrier family 2 (facilitated glucose transporter), member 10
HumanSRD5A379644steroid 5 alpha-reductase 3
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img HP RolledUp, OMIM ID: 252500
HumanNSD164324nuclear receptor binding SET domain protein 1
HumanWDR1957728WD repeat domain 19
HumanMRPS2256945mitochondrial ribosomal protein S22
HumanHDAC855869histone deacetylase 8
HumanPEX2655670peroxisomal biogenesis factor 26
HumanFKBP1455033FK506 binding protein 14, 22 kDa
img HP RolledUp, OMIM ID: 614557
HumanRIN254453Ras and Rab interactor 2
HumanNBAS51594neuroblastoma amplified sequence
img HP RolledUp, OMIM ID: 614800
HumanMLXIPL51085MLX interacting protein-like
img HP RolledUp, OMIM ID: 194050
HumanMRPS1651021mitochondrial ribosomal protein S16
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010647Abnormal elasticity of skin0self