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Details
Link-It Detail - Disease - Dysostoses
Debug Stats
  • ### Total Build Time: 36 ms 36.939 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 318 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 232 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=0 Completed: 0 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= 564 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 2.692 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.513 KB
  • CONCEPT_RELATIONSHIPS gt=16 ms Completed: 16 ms rowSize= 10.947 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 19.344 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.145 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Dysostoses C0013393
Definition (1)
Defective bone formation involving individual bones, singly or in combination.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Bone Diseases, Developmental C0005941
Children (6)
img Focal Dermal Hypoplasia C0016395
img Craniofacial Dysostosis C0010273
img Synostosis C0039093
img Orofaciodigital Syndromes C0029294
img Klippel-Feil Syndrome C0022738
img Rubinstein-Taybi Syndrome C0035934
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059404img Bone Diseases, Developmental C0005941
Relationships (25)

Relation Types:
diso_​to_​anat : 6
diso_​to_​diso : 16
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 10
is_​normal_​tissue_​origin_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 7
mapped_​to : 6
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN25img genetic aspects C0017399
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_DISO14img Complication Aspects C1171258
DISO_to_ANAT12img Spine C0037949
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_ANAT10img Bone structure of rib C0035561
DISO_to_ANAT8img Spine C0037949
DISO_to_PHYS8img Mutation C0026882
DISO_to_ANAT7img Bone structure of thoracic vertebra C0039987
DISO_to_DISO6img Abnormalities, Multiple C0000772
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg Connective and Soft Tissue C1516798
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Skeletal bone C0262950
DISO_to_DISOmapped_toimg Achard syndrome C1332135
DISO_to_DISOmapped_toimg Acrodysostosis C0220659
DISO_to_DISOisaimg Acrofacial Dysostosis C1332140
DISO_to_DISOmapped_toimg Autosomal recessive spondylocostal dysostosis C2931020
DISO_to_DISOmapped_toimg CDMD C1840471
DISO_to_DISOmapped_toimg CRANIOFACIAL DYSMORPHISM, HYPOPLASIA OF SCAPULA AND PELVIS, AND SHORT STATURE C1850040
DISO_to_DISOmapped_toimg Camptodactyly joint contractures and facial skeletal dysplasia C2931678
DISO_to_DISOisaimg Craniofacial Dysostosis C0010273
DISO_to_DISOisaimg Dysostosis of bone of skull C1290431
DISO_to_DISOisaimg Fronto-frontal dysostosis C1290447
DISO_to_DISOisaimg Fronto-naso-ethmoidal dysostosis C1290448
DISO_to_DISOisaimg Mandibuloacral dysostosis C0432291
DISO_to_DISOisaimg Spheno-frontal dysostosis C1290452
Genes (130)

Species:
human : 130
Page Size
Current 25
  Page 1 of 6
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanGDF6392255growth differentiation factor 6
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanFREM2341640FRAS1 related extracellular matrix protein 2
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanMESP2145873mesoderm posterior 2 homolog (mouse)
img GENERIF, Score=861, Pubmed Id: 15122512, UMLKSK CUI: C0013393
HumanMIPOL1145282mirror-image polydactyly 1
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanFAM58A92002family with sequence similarity 58, member A
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanHES784667hairy and enhancer of split 7 (Drosophila)
img GENERIF, Score=861, Pubmed Id: 18775957, UMLKSK CUI: C0013393
HumanFRAS180144Fraser syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanPORCN64840porcupine homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanNSD164324nuclear receptor binding SET domain protein 1
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanSALL457167sal-like 4 (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanALG156052ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanPEX2655670peroxisomal biogenesis factor 26
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanCHD755636chromodomain helicase DNA binding protein 7
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanAGGF155109angiogenic factor with G patch and FHA domains 1
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanMKS154903Meckel syndrome, type 1
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanRAB2351715RAB23, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanSOST50964sclerostin
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanNIPBL25836Nipped-B homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanCLCF123529cardiotrophin-like cytokine factor 1
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanDLL310683delta-like 3 (Drosophila)
img GENERIF, Score=861, Pubmed Id: 12746394, UMLKSK CUI: C0013393
HumanSEC23A10484Sec23 homolog A (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C0013393
HumanZMPSTE2410269zinc metallopeptidase STE24
INFERRED, Score=800, UMLKSK CUI: C0013393
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0013393Dysostoses0self