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Details
Link-It Detail - Disease - Osteosclerosis
Debug Stats
  • ### Total Build Time: 124 ms 38.761 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 209 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=0 Completed: 0 ms rowSize= 558 bytes
  • CONCEPT_CHILDREN gt=15 ms Completed: 15 ms rowSize= 1.384 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.507 KB
  • CONCEPT_RELATIONSHIPS gt=64 ms Completed: 64 ms rowSize= 13.418 KB
  • CONCEPT_GENES gt=34 ms Completed: 34 ms rowSize= 20.025 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Osteosclerosis C0029464
Definition (1)
abnormal hardening or increased density of bone tissue.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Osteochondrodysplasias C0029422
Children (3)
img Osteopetrosis C0029454
img Melorheostosis C0025239
img Osteopoikilosis C0029455
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Osteochondrodysplasias C0029422
Relationships (34)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 27
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 18
disease_​excludes_​finding : 1
disease_​may_​have_​finding : 2
isa : 2
mapped_​to : 8
permuted_​term_​of : 1
use : 2
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO18img Complication Aspects C1171258
DISO_to_PHEN14img genetic aspects C0017399
DISO_to_PHEN13img genetic aspects C0017399
DISO_to_DISO8img Bone Neoplasms C0005967
DISO_to_DISO8img Disease, Mandibular C0024689
DISO_to_DISO7img Disease, Mandibular C0024689
DISO_to_DISO7img chemically induced C0007994
DISO_to_ANAT6img Bone and Bones C0005931
DISO_to_CHEM6img CYTOPLASMIC NUCLEAR RECEPT C0206589
DISO_to_CHEM6img Glycoproteins C0017968
DISO_to_DISO6img Abnormalities, Multiple C0000772
DISO_to_DISO6img BONE DEVELOPMENT DISORDER C0005941
DISO_to_DISO6img Primary Myelofibrosis C0001815
DISO_to_CHEM5img Bone Morphogenetic Proteins C0053932
DISO_to_DISO5img BONE DEVELOPMENT DISORDER C0005941
DISO_to_DISO5img Crow Fukase Syndrome C0085404
DISO_to_DISO5img Multiple Myeloma C0026764
DISO_to_PHYS5img Bone Density C0005938
DISO_to_DISOisaimg AXIAL OSTEOSCLEROSIS C0432264
DISO_to_DISOuseimg Achondroplasia C0001080
DISO_to_DISOisaimg CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA C0432263
DISO_to_DISOmapped_toimg Cerebellar hypoplasia with endosteal sclerosis C1859301
DISO_to_DISOdisease_may_have_findingimg Chronic Idiopathic Myelofibrosis, Fibrotic Stage C1516552
DISO_to_DISOmapped_toimg Congenital heart disease, deafness, and skeletal malformations C2931461
DISO_to_DISOmapped_toimg Mixed sclerosing bone dystrophy C2931505
Genes (22)

Species:
human : 22
SpeciesGeneGeneIdGene NameEvidence
HumanPDB494003Paget disease of bone 4
img OMIM, Score=1000, UMLKSK CUI: C0029464
HumanFAM20C56975family with sequence similarity 20, member C
img OMIM, Score=833, UMLKSK CUI: C0029464
HumanSOST50964sclerostin
img OMIM, Score=1000, UMLKSK CUI: C0029464
HumanOSTM128962osteopetrosis associated transmembrane protein 1
INFERRED, Score=800, UMLKSK CUI: C0029464
HumanLEMD323592LEM domain containing 3
img OMIM, Score=1000, UMLKSK CUI: C0029464
HumanTCIRG110312T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
INFERRED, Score=800, UMLKSK CUI: C0029464
HumanPLEKHM19842pleckstrin homology domain containing, family M (with RUN domain) member 1
INFERRED, Score=800, UMLKSK CUI: C0029464
HumanSQSTM18878sequestosome 1
img OMIM, Score=1000, UMLKSK CUI: C0029464
HumanTNFRSF11A8792tumor necrosis factor receptor superfamily, member 11a, NFKB activator
img OMIM, Score=1000, UMLKSK CUI: C0029464
HumanTNFSF118600tumor necrosis factor (ligand) superfamily, member 11
img OMIM, Score=1000, UMLKSK CUI: C0029464
HumanTNFRSF11B4982tumor necrosis factor receptor superfamily, member 11b
img GENERIF, Score=1000, Pubmed Id: 15504545, UMLKSK CUI: C0029464
img GENERIF, Score=1000, Pubmed Id: 15307108, UMLKSK CUI: C0029464
HumanMPL4352myeloproliferative leukemia virus oncogene
img GENERIF, Score=1000, Pubmed Id: 17920755, UMLKSK CUI: C0029464
HumanMITF4286microphthalmia-associated transcription factor
INFERRED, Score=800, UMLKSK CUI: C0029464
HumanLRP54041low density lipoprotein receptor-related protein 5
img NCI, Score=801, Pubmed Id: 15940380, UMLKSK CUI: C0029464
img OMIM, Score=833, UMLKSK CUI: C0029464
HumanDHCR24171824-dehydrocholesterol reductase
img OMIM, Score=1000, UMLKSK CUI: C0029464
HumanCTSK1513cathepsin K
img OMIM, Score=1000, UMLKSK CUI: C0029464
HumanCLCN71186chloride channel, voltage-sensitive 7
img OMIM, Score=1000, UMLKSK CUI: C0029464
HumanCLCN11180chloride channel, voltage-sensitive 1
INFERRED, Score=800, UMLKSK CUI: C0029464
HumanRUNX2860runt-related transcription factor 2
img OMIM, Score=1000, UMLKSK CUI: C0029464
HumanCA2760carbonic anhydrase II
img OMIM, Score=1000, UMLKSK CUI: C0029464
HumanALPL249alkaline phosphatase, liver/bone/kidney
img GENERIF, Score=1000, Pubmed Id: 12788869, UMLKSK CUI: C0029464
HumanACP554acid phosphatase 5, tartrate resistant
INFERRED, Score=800, UMLKSK CUI: C0029464
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0029464Osteosclerosis0self