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Details
Link-It Detail - Disease - Osteogenesis Imperfecta
Debug Stats
  • ### Total Build Time: 485 ms 22.877 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 1,011 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_RELATIONSHIPS gt=439 ms Completed: 439 ms rowSize= 14.609 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Osteogenesis Imperfecta C0029434
Definition (1)

Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine and hearing loss. The cause is a gene defect that affects how you make collagen, a protein that helps make bones strong. Usually you inherit the faulty gene from a parent. Sometimes, it is due to a mutation, a random gene change.

OI can range from mild to severe and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime. There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces and surgery.

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Osteochondrodysplasias C0029422
img Genetic Diseases, Inborn C0950123
img Collagen Diseases C0009326
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Osteochondrodysplasias C0029422
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Skin and Connective Tissue Diseases C0175166img Connective Tissue Diseases C00097824img Collagen Diseases C0009326
Relationships (78)

Relation Types:
diso_​to_​anat : 9
diso_​to_​chem : 19
diso_​to_​diso : 40
diso_​to_​gene : 4
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 29
associated_​with : 4
classifies : 2
gene_​associated_​with_​disease : 4
is_​associated_​anatomic_​site_​of : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 1
location_​of : 1
mapped_​to : 26
may_​treat : 6
related_​to : 3
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO143img Complication Aspects C1171258
DISO_to_PHEN143img genetic aspects C0017399
DISO_to_DISO103img Complication Aspects C1171258
DISO_to_PHEN91img genetic aspects C0017399
DISO_to_CHEM61img Diphosphonates C0012544
DISO_to_CHEM60img Diphosphonates C0012544
DISO_to_CHEM52img Bone Density Conservation Agents C1563726
DISO_to_CHEM48img Collagen Type I C0041455
DISO_to_CHEM42img Collagen Type I C0041455
DISO_to_PHYS41img Mutation C0026882
DISO_to_CHEM23img Collagen C0009325
DISO_to_ANAT22img BONE BONES C0005931
DISO_to_ANAT22img Bone and Bones C0005931
DISO_to_DISO20img Fracture C0016658
DISO_to_PHYS18img Bone Density C0005938
DISO_to_PHYS18img Mutation C0026882
DISO_to_CHEM17img Bone Density Conservation Agents C1563726
DISO_to_CHEM16img Collagen C0009325
DISO_to_ANAT15img BONE BONES C0005931
DISO_to_CHEM15img (4-Amino-1-hydroxybutylidene)bisphosphonic Acid C0102118
DISO_to_PHYS15img Bone Density C0005938
DISO_to_ANAT14img In Blood C0005768
DISO_to_DISO13img Fracture C0016658
DISO_to_ANAT11img Femur C0015811
DISO_to_CHEM11img Proteoglycan C0033692
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0029434Osteogenesis Imperfecta0self