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Details
Link-It Detail - Disease - Exostoses, Multiple Hereditary
Debug Stats
  • ### Total Build Time: 92 ms 28.974 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 358 bytes
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  • Reload Stats
Disease (1)
Exostoses, Multiple Hereditary C0015306
Definition (1)
Hereditary disorder transmitted by autosomal dominant genes (EXT1-3) and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.
Semantic Types (2)
Neoplastic Process (T191)
Congenital Abnormality (T019)
Parents (3)
img Neoplastic Syndromes, Hereditary C0027672
img Exostoses C1442903
img Osteochondromatosis C0206641
Ancestral Roots
RootRoot Plus OneDepthParent
img Neoplasms C0027651img Neoplastic Syndromes, Hereditary C00276723img Neoplastic Syndromes, Hereditary C0027672
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Neoplastic Syndromes, Hereditary C0027672
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Exostoses C1442903
img Neoplasms C0027651img Neoplasms by Histologic Type C00276528img Osteochondromatosis C0206641
img Skin and Connective Tissue Diseases C0175166img Connective Tissue Diseases C00097827img Osteochondromatosis C0206641
img Musculoskeletal Diseases C0026857img Bone Diseases C00059407img Osteochondromatosis C0206641
Relationships (44)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 4
diso_​to_​diso : 35
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 14
gene_​product_​malfunction_​associated_​with_​disease : 2
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
is_​normal_​tissue_​origin_​of_​disease : 1
manifestation_​of : 18
mapped_​to : 5
permuted_​term_​of : 1
used_​for : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN66img genetic aspects C0017399
DISO_to_PHEN48img genetic aspects C0017399
DISO_to_CHEM39img ACETYLGLUCOSAMINYLTRANSFERASES N C0162733
DISO_to_DISO38img Complication Aspects C1171258
DISO_to_DISO31img Complication Aspects C1171258
DISO_to_DISO19img Bone Neoplasms C0005967
DISO_to_CHEM18img ACETYLGLUCOSAMINYLTRANSFERASES N C0162733
DISO_to_PHYS15img Mutation C0026882
DISO_to_DISO14img Cartilaginous exostosis C0029423
DISO_to_DISO12img Bone Neoplasms C0005967
DISO_to_DISO8img Chondrosarcoma C0008479
DISO_to_DISO7img Chondrosarcoma C0008479
DISO_to_DISO7img Compression of spinal cord C0037926
DISO_to_DISO7img HEMORRHAGE PLEURAL C0019123
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg Connective and Soft Tissue C1516798
DISO_to_ANATis_associated_anatomic_site_ofimg Skeletal bone C0262950
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg EXT1 protein C0537447
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg Exostosin-2 C0529768
DISO_to_DISOused_forimg Abnormal development of cartilage C0008449
DISO_to_DISOmapped_toimg Arthrosis, flat face, hypotonia, short neck and macrocephaly C1855605
DISO_to_DISOmapped_toimg BOCD C1859148
DISO_to_DISOmanifestation_ofimg Bilateral overriding of single toes C1851426
DISO_to_DISOmanifestation_ofimg CERVICAL MYELOPATHY C0149645
DISO_to_DISOmapped_toimg CUPPED METAPHYSES AND CONE-SHAPED EPIPHYSES OF KNEES WITH BRACHYDACTYLY C1855243
DISO_to_DISOmanifestation_ofimg Caused by mutations in the exostosin 1 gene (EXT1, 133700.0001) C1851427
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanTRPS17227trichorhinophalangeal syndrome I
img OMIM, Score=1000, UMLKSK CUI: C0015306
HumanPTH1R5745parathyroid hormone 1 receptor
img OMIM, Score=1000, UMLKSK CUI: C0015306
HumanEXT12131exostosin glycosyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0015306
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0015306Exostoses, Multiple Hereditary0self