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Details
Link-It Detail - Disease - Osteopetrosis
Debug Stats
  • ### Total Build Time: 414 ms 32.188 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 342 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=2 ms Completed: 2 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 550 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 1.499 KB
  • CONCEPT_RELATIONSHIPS gt=365 ms Completed: 365 ms rowSize= 13.697 KB
  • CONCEPT_GENES gt=24 ms Completed: 24 ms rowSize= 14.381 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Osteopetrosis C0029454
Definition (1)
Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (1)
img Osteosclerosis C0029464
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059406img Osteosclerosis C0029464
Relationships (63)

Relation Types:
diso_​to_​anat : 7
diso_​to_​chem : 15
diso_​to_​diso : 33
diso_​to_​gene : 2
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 34
classifies : 2
is_​associated_​anatomic_​site_​of : 1
is_​normal_​tissue_​origin_​of_​disease : 1
isa : 5
mapped_​to : 17
may_​treat : 3
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN92img genetic aspects C0017399
DISO_to_PHEN83img genetic aspects C0017399
DISO_to_DISO63img Complication Aspects C1171258
DISO_to_DISO48img Complication Aspects C1171258
DISO_to_ANAT25img Osteoclast C0029431
DISO_to_ANAT24img Osteoclast C0029431
DISO_to_PHYS15img Mutation C0026882
DISO_to_CHEM13img Chloride Channels C0055363
DISO_to_DISO13img Disease, Mandibular C0024689
DISO_to_DISO13img Osteomyelitis C0029443
DISO_to_CHEM12img Macrophage Colony-Stimulating Factor C0079784
DISO_to_ANAT11img BONE BONES C0005931
DISO_to_CHEM11img Vacuolar Proton-Translocating ATPases C0379099
DISO_to_CHEM10img Chloride Channels C0055363
DISO_to_CHEM8img Vacuolar Proton-Translocating ATPases C0379099
DISO_to_DISO7img Acidosis, Renal Tubular C0001126
DISO_to_DISO7img Osteomyelitis C0029443
DISO_to_ANAT6img BONE BONES C0005931
DISO_to_CHEM6img Macrophage Colony-Stimulating Factor C0079784
DISO_to_CHEM6img RANK Ligand C0666364
DISO_to_ANAT5img In Blood C0005768
DISO_to_CHEM5img Carbonic Anhydrase II C0007034
DISO_to_CHEM5img Diphosphonates C0012544
DISO_to_CHEM5img Membrane Associated Proteins C0025252
DISO_to_CHEM5img Membrane Proteins C0025252
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanOSTM128962osteopetrosis associated transmembrane protein 1
img GENERIF, Score=827, Pubmed Id: 17985267, UMLKSK CUI: C0029454
HumanPLEKHM19842pleckstrin homology domain containing, family M (with RUN domain) member 1
img GENERIF, Score=1000, Pubmed Id: 17404618, UMLKSK CUI: C0029454
img GENERIF, Score=694, Pubmed Id: 17997709, UMLKSK CUI: C0029454
HumanTNFSF118600tumor necrosis factor (ligand) superfamily, member 11
img GENERIF, Score=827, Pubmed Id: 17632511, UMLKSK CUI: C0029454
HumanMITF4286microphthalmia-associated transcription factor
img GAD, Score=1000, Pubmed Id: 10385915, UMLKSK CUI: C0029454
HumanLRP54041low density lipoprotein receptor-related protein 5
img OMIM, Score=790, UMLKSK CUI: C0029454
img OMIM, Score=790, UMLKSK CUI: C0029454
img OMIM, Score=790, UMLKSK CUI: C0029454
HumanCLCN71186chloride channel, voltage-sensitive 7
img GENERIF, Score=1000, Pubmed Id: 16368748, UMLKSK CUI: C0029454
img GENERIF, Score=827, Pubmed Id: 12929941, UMLKSK CUI: C0029454
img GENERIF, Score=812, Pubmed Id: 12522560, UMLKSK CUI: C0029454
img OMIM, Score=1000, UMLKSK CUI: C0029454
img GENERIF, Score=827, Pubmed Id: 17164308, UMLKSK CUI: C0029454
img GENERIF, Score=861, Pubmed Id: 14584882, UMLKSK CUI: C0029454
HumanCLCN11180chloride channel, voltage-sensitive 1
img GENERIF, Score=1000, Pubmed Id: 14564431, UMLKSK CUI: C0029454
HumanACP554acid phosphatase 5, tartrate resistant
img GENERIF, Score=694, Pubmed Id: 17997709, UMLKSK CUI: C0029454
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0029454Osteopetrosis0self