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Details
Link-It Detail - Disease - Dentinogenesis Imperfecta
Debug Stats
  • ### Total Build Time: 139 ms 22.682 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 348 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 280 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=12 ms Completed: 12 ms rowSize= 555 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=22 ms Completed: 22 ms rowSize= 4.113 KB
  • CONCEPT_RELATIONSHIPS gt=77 ms Completed: 77 ms rowSize= 6.525 KB
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 9.452 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Dentinogenesis Imperfecta C0011436
Definition (1)
A congenital tooth development disorder caused by mutations in the DSPP gene. The teeth are weak, discolored, and translucent.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (1)
img Tooth Abnormalities C0040427
Ancestral Roots
RootRoot Plus OneDepthParent
img Stomatognathic Diseases C0038368img Tooth Diseases C00404354img Tooth Abnormalities C0040427
img Stomatognathic Diseases C0038368img Stomatognathic System Abnormalities C02430574img Tooth Abnormalities C0040427
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Tooth Abnormalities C0040427
Relationships (12)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 1
diso_​to_​diso : 7
diso_​to_​phen : 2


Relationships:
none : 3
associated_​with : 1
isa : 1
location_​of : 2
mapped_​to : 4
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN25img genetic aspects C0017399
DISO_to_CHEM18img Extracellular Matrix Protein C0079323
DISO_to_PHEN16img genetic aspects C0017399
DISO_to_ANATlocation_ofimg Dentin C0011429
DISO_to_ANATlocation_ofimg Dentition, Primary C0079214
DISO_to_DISOassociated_withimg Congenital dysplasia C0332865
DISO_to_DISOpermuted_term_ofimg Dentinogenesis Imperfecta C0011436
DISO_to_DISOmapped_toimg Dentinogenesis imperfecta - Shield's type I C0268357
DISO_to_DISOmapped_toimg Dentinogenesis imperfecta - Shield's type III (disorder) C0399378
DISO_to_DISOisaimg Dentinogenesis imperfecta without osteogenesis imperfecta C2973527
DISO_to_DISOmapped_toimg Opalescent dentin C3495146
DISO_to_DISOmapped_toimg Spondylometaphyseal dysplasia with dentinogenesis imperfecta C2745953
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanZNF46984627zinc finger protein 469
img OMIM, Score=1000, UMLKSK CUI: C0011436
HumanLEPRE164175leucine proline-enriched proteoglycan (leprecan) 1
img OMIM, Score=1000, UMLKSK CUI: C0011436
HumanCRTAP10491cartilage associated protein
img OMIM, Score=1000, UMLKSK CUI: C0011436
HumanDSPP1834dentin sialophosphoprotein
img GENERIF, Score=694, Pubmed Id: 18797159, UMLKSK CUI: C0011436
img GENERIF, Score=673, Pubmed Id: 16920545, UMLKSK CUI: C0011436
img GENERIF, Score=861, Pubmed Id: 17686168, UMLKSK CUI: C0011436
img GENERIF, Score=1000, Pubmed Id: 18521831, UMLKSK CUI: C0011436
img OMIM, Score=1000, UMLKSK CUI: C0011436
HumanCOL1A21278collagen, type I, alpha 2
img OMIM, Score=1000, UMLKSK CUI: C0011436
img OMIM, Score=1000, UMLKSK CUI: C0011436
HumanCOL1A11277collagen, type I, alpha 1
img OMIM, Score=1000, UMLKSK CUI: C0011436
img OMIM, Score=1000, UMLKSK CUI: C0011436
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0011436Dentinogenesis Imperfecta0self