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Details
Link-It Detail - Disease - Otosclerosis
Debug Stats
  • ### Total Build Time: 98 ms 31.801 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 322 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 439 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=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=12 ms Completed: 12 ms rowSize= 548 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=10 ms Completed: 10 ms rowSize= 1.501 KB
  • CONCEPT_RELATIONSHIPS gt=44 ms Completed: 44 ms rowSize= 12.766 KB
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 14.891 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Otosclerosis C0029899
Definition (1)
Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Ear Diseases C0013447
Ancestral Roots
RootRoot Plus OneDepthParent
img Otorhinolaryngologic Diseases C0029896img Ear Diseases C00134473img Ear Diseases C0013447
Relationships (28)

Relation Types:
diso_​to_​anat : 8
diso_​to_​chem : 1
diso_​to_​diso : 15
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 22
alias_​of : 1
classifies : 2
isa : 2
mapped_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO70img Complication Aspects C1171258
DISO_to_DISO59img Complication Aspects C1171258
DISO_to_DISO42img Hearing Loss, Conductive C0018777
DISO_to_PHEN42img genetic aspects C0017399
DISO_to_DISO28img Conductive hearing loss C0018777
DISO_to_ANAT24img Stapes C0038152
DISO_to_DISO21img COMPL POSTOP C0032787
DISO_to_PHEN18img genetic aspects C0017399
DISO_to_ANAT17img Stapes C0038152
DISO_to_DISO16img Hearing Loss, Sensorineural C0018784
DISO_to_ANAT15img Ear, Middle C0013455
DISO_to_ANAT15img Temporal Bone C0039484
DISO_to_PHYS14img BC - Bone conduction C0005935
DISO_to_ANAT12img Ear, Middle C0013455
DISO_to_ANAT12img Tympanic Membrane C0041445
DISO_to_DISO12img Hearing Loss C1384666
DISO_to_PHYS12img Hearing C0018767
DISO_to_ANAT10img Cochlea C0009195
DISO_to_DISO10img Hearing Loss, Sensorineural C0018784
DISO_to_ANAT9img Cochlea C0009195
DISO_to_CHEM9img Titanium C0040302
DISO_to_DISO9img Hearing Loss C1384666
DISO_to_DISOisaimg Cochlear otosclerosis C0155526
DISO_to_DISOclassifiesimg Other otitis media and related conditions C0810272
DISO_to_DISOclassifiesimg Otitis media and related conditions C0809998
Genes (12)

Species:
human : 12
SpeciesGeneGeneIdGene NameEvidence
HumanOTSC5317682otosclerosis 5
img GENERIF, Score=660, Pubmed Id: 16639267, UMLKSK CUI: C0029899
HumanOTSC4286751otosclerosis 4
img GENERIF, Score=660, Pubmed Id: 16618911, UMLKSK CUI: C0029899
HumanOTSC3170532otosclerosis 3
img GENERIF, Score=804, Pubmed Id: 12114476, UMLKSK CUI: C0029899
HumanTRPM380036transient receptor potential cation channel, subfamily M, member 3
img GENERIF, Score=660, Pubmed Id: 18224337, UMLKSK CUI: C0029899
HumanTJP29414tight junction protein 2
img GENERIF, Score=660, Pubmed Id: 18224337, UMLKSK CUI: C0029899
HumanTGFB17040transforming growth factor, beta 1
img GENERIF, Score=1000, Pubmed Id: 19113055, UMLKSK CUI: C0029899
img GENERIF, Score=1000, Pubmed Id: 17588962, UMLKSK CUI: C0029899
HumanCD464179CD46 molecule, complement regulatory protein
img GENERIF, Score=1000, Pubmed Id: 18677279, UMLKSK CUI: C0029899
HumanCOL1A21278collagen, type I, alpha 2
img OMIM, Score=1000, UMLKSK CUI: C0029899
HumanCOL1A11277collagen, type I, alpha 1
img GENERIF, Score=1000, Pubmed Id: 17489845, UMLKSK CUI: C0029899
img GAD, Score=1000, Pubmed Id: 15241219, UMLKSK CUI: C0029899
img OMIM, Score=1000, UMLKSK CUI: C0029899
HumanKLF9687Kruppel-like factor 9
img GENERIF, Score=660, Pubmed Id: 18224337, UMLKSK CUI: C0029899
HumanBMP4652bone morphogenetic protein 4
img GENERIF, Score=1000, Pubmed Id: 18021008, UMLKSK CUI: C0029899
HumanBMP2650bone morphogenetic protein 2
img GENERIF, Score=1000, Pubmed Id: 18021008, UMLKSK CUI: C0029899
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0029899Otosclerosis0self