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Details
Link-It Detail - Disease - Camurati-Engelmann Syndrome
Debug Stats
  • ### Total Build Time: 259 ms 23.381 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 377 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.830 KB
  • CONCEPT_RELATIONSHIPS gt=201 ms Completed: 201 ms rowSize= 12.707 KB
  • CONCEPT_GENES gt=24 ms Completed: 24 ms rowSize= 4.772 KB
  • CONCEPT_XREFS gt=16 ms Completed: 16 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Camurati-Engelmann Syndrome C0011989
Definition (1)
An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Osteochondrodysplasias C0029422
img Genetic Diseases, Inborn C0950123
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
Relationships (37)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 34
diso_​to_​phen : 2


Relationships:
none : 6
alias_​of : 1
isa : 1
manifestation_​of : 26
mapped_​to : 3
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN12img genetic aspects C0017399
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_DISO8img Complication Aspects C1171258
DISO_to_ANAT5img Bone and Bones C0005931
DISO_to_DISO5img Pain C0030193
DISO_to_PHEN5img genetic aspects C0017399
DISO_to_DISOmanifestation_ofimg Anemia C0002871
DISO_to_DISOmanifestation_ofimg Asthenic habitus C1861200
DISO_to_DISOmanifestation_ofimg Atrophic muscle fiber on biopsy C1851616
DISO_to_DISOmanifestation_ofimg Bone marrow depression C0151773
DISO_to_DISOmapped_toimg CAEND2 C2931683
DISO_to_DISOalias_ofimg Camurati-Engelmann Syndrome C0011989
DISO_to_DISOmanifestation_ofimg Caused by mutations in the beta-1 transforming growth factor gene (TGFB1, 190180.0001) C1851617
DISO_to_DISOmanifestation_ofimg Childhood onset C1837352
DISO_to_DISOmanifestation_ofimg Compression of optic nerve C0271344
DISO_to_DISOmapped_toimg DIAPHYSEAL SCLEROSIS, MULTIPLE C1832273
DISO_to_DISOmanifestation_ofimg Deafness C0011053
DISO_to_DISOmanifestation_ofimg Delayed Puberty C0034012
DISO_to_DISOmanifestation_ofimg Dental Caries C0011334
DISO_to_DISOmapped_toimg Diaphyseal dysplasia 1, progressive C2931842
DISO_to_DISOisaimg Diaphyseal dysplasia with anaemia C1300131
DISO_to_DISOmanifestation_ofimg Diplopia C0012569
DISO_to_DISOmanifestation_ofimg Erlenmeyer flask defect C1851613
DISO_to_DISOmanifestation_ofimg Exophthalmos C0015300
DISO_to_DISOmanifestation_ofimg Genu valgum deformity C2675695
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanTNFSF118600tumor necrosis factor (ligand) superfamily, member 11
img OMIM, Score=1000, UMLKSK CUI: C0011989
HumanTGFB17040transforming growth factor, beta 1
img GENERIF, Score=1000, Pubmed Id: 17433803, UMLKSK CUI: C0011989
img GAD, Score=1000, Pubmed Id: 12843182, UMLKSK CUI: C0011989
HumanTBXAS16916thromboxane A synthase 1 (platelet)
img OMIM, Score=1000, UMLKSK CUI: C0011989
HumanCA2760carbonic anhydrase II
img OMIM, Score=1000, UMLKSK CUI: C0011989
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0011989Camurati-Engelmann Syndrome0self