Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Bone Diseases, Developmental
Debug Stats
  • ### Total Build Time: 59 ms 41.534 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 409 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 265 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=2 ms Completed: 2 ms rowSize= 549 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 5.635 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 1.498 KB
  • CONCEPT_RELATIONSHIPS gt=34 ms Completed: 34 ms rowSize= 13.696 KB
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 18.138 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Bone Diseases, Developmental C0005941
BONE DEVELOPMENT DISORDER
Definition (1)
condition in which there is a deviation from or interruption of the normal development of bone and bone tissue.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Bone Diseases C0005940
Children (13)
img Gigantism C0017547
img Osteolysis, Essential C0029436
img Weill-Marchesani Syndrome C0265313
img Dwarfism C0013336
img Leg Length Inequality C0023221
img Funnel Chest C0016842
img Acro-Osteolysis C0917990
img Proteus Syndrome C0085261
img Osteochondrodysplasias C0029422
img Platybasia C0032209
img Basal Cell Nevus Syndrome C0004779
img Dysostoses C0013393
img Marfan Syndrome C0024796
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059403img Bone Diseases C0005940
Relationships (111)

Relation Types:
diso_​to_​anat : 19
diso_​to_​diso : 86
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 49
is_​normal_​tissue_​origin_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 13
mapped_​to : 45
permuted_​term_​of : 1
use : 1
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN134img genetic aspects C0017399
DISO_to_PHEN104img genetic aspects C0017399
DISO_to_DISO80img Complication Aspects C1171258
DISO_to_DISO55img Complication Aspects C1171258
DISO_to_DISO51img Abnormalities, Multiple C0000772
DISO_to_DISO33img Abnormalities, Multiple C0000772
DISO_to_ANAT32img Bone structure of tibia C0040184
DISO_to_ANAT28img Femur C0015811
DISO_to_ANAT24img Hip Joint C0019558
DISO_to_ANAT23img Hip Joint C0019558
DISO_to_ANAT22img Bone structure of tibia C0040184
DISO_to_DISO22img CANINE DIS C0012979
DISO_to_PHYS22img Mutation C0026882
DISO_to_ANAT19img Femur C0015811
DISO_to_ANAT18img Acetabulum C0000962
DISO_to_DISO17img Abnormalities, Craniofacial C0376634
DISO_to_ANAT15img Acetabulum C0000962
DISO_to_DISO14img Abnormalities, Craniofacial C0376634
DISO_to_ANAT12img BONE BONES C0005931
DISO_to_DISO12img Hip Dislocation, Congenital C0019555
DISO_to_DISO12img Osteoarthritis of hip C0029410
DISO_to_PHYS12img Bone Development C0005939
DISO_to_ANAT11img Knee Joint C0022745
DISO_to_DISO11img CANINE DIS C0012979
DISO_to_DISO11img Dwarfism C0013336
Genes (249)

Species:
human : 249
Page Size
Current 25
  Page 1 of 10
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanGDF6392255growth differentiation factor 6
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanIYD389434iodotyrosine deiodinase
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanFREM2341640FRAS1 related extracellular matrix protein 2
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanSUMF1285362sulfatase modifying factor 1
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanMESP2145873mesoderm posterior 2 homolog (mouse)
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanMIPOL1145282mirror-image polydactyly 1
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanEVC2132884Ellis van Creveld syndrome 2
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanCSMD3114788CUB and Sushi multiple domains 3
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanPDB494003Paget disease of bone 4
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanFAM58A92002family with sequence similarity 58, member A
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanTUBA1C84790tubulin, alpha 1c
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanHES784667hairy and enhancer of split 7 (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanFRAS180144Fraser syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanWNK165125WNK lysine deficient protein kinase 1
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanUPF3B65109UPF3 regulator of nonsense transcripts homolog B (yeast)
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanPORCN64840porcupine homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanNSD164324nuclear receptor binding SET domain protein 1
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanLEPRE164175leucine proline-enriched proteoglycan (leprecan) 1
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanAICDA57379activation-induced cytidine deaminase
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanSALL457167sal-like 4 (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanFAM20C56975family with sequence similarity 20, member C
INFERRED, Score=800, UMLKSK CUI: C0005941
HumanALG156052ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
INFERRED, Score=800, UMLKSK CUI: C0005941
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0005941Bone Diseases, Developmental0self