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Details
Link-It Detail - Disease - PILI TORTI, EARLY-ONSET
Debug Stats
  • ### Total Build Time: 11 ms 10.565 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 344 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= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=7 ms Completed: 7 ms rowSize= 6.019 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 2.983 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
PILI TORTI, EARLY-ONSET C0263491
Relationships (13)

Relation Types:
diso_​to_​diso : 13


Relationships:
alias_​of : 1
inheritance_​type_​of : 1
isa : 1
manifestation_​of : 10
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Brittle, dry hair C1859734
DISO_to_DISOmanifestation_ofimg Early childhood onset C1851422
DISO_to_DISOmanifestation_ofimg Enamel hypoplasia may occur C3279337
DISO_to_DISOmanifestation_ofimg Flattened hair C3279340
DISO_to_DISOmanifestation_ofimg Hair appears spangled in reflective light C3279341
DISO_to_DISOmanifestation_ofimg Hair fragility C1397799
DISO_to_DISOmanifestation_ofimg Hair may normalize at puberty C3279343
DISO_to_DISOmanifestation_ofimg Hair twists on long axis, 90 to 360 degrees C3279342
DISO_to_DISOmanifestation_ofimg Hyperkeratosis pilaris may occur C3279338
DISO_to_DISOinheritance_type_ofimg Isolated cases C1853237
DISO_to_DISOmanifestation_ofimg Nail dystrophy may occur C3279339
DISO_to_DISOalias_ofimg PILI TORTI, EARLY-ONSET C0263491
DISO_to_DISOisaimg Pili torti-deafness syndrome C0266006
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanST146768suppression of tumorigenicity 14 (colon carcinoma)
img OMIM, Score=1000, UMLKSK CUI: C0263491
HumanKRT853891keratin 85
img OMIM, Score=1000, UMLKSK CUI: C0263491
HumanCDH31001cadherin 3, type 1, P-cadherin (placental)
img OMIM, Score=1000, UMLKSK CUI: C0263491
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0263491PILI TORTI, EARLY-ONSET0self