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 - Craniosynostoses
Debug Stats
  • ### Total Build Time: 82 ms 53.776 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 376 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 397 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 990 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 560 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 6.700 KB
  • CONCEPT_RELATIONSHIPS gt=60 ms Completed: 60 ms rowSize= 13.752 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 29.637 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Craniosynostoses C0010278
Craniosynostosis
Definition (1)
Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (2)
img Synostosis C0039093
img Craniofacial Abnormalities C0376634
Children (1)
img Acrocephalosyndactylia C1510455
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059406img Synostosis C0039093
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514914img Synostosis C0039093
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Synostosis C0039093
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514914img Craniofacial Abnormalities C0376634
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Craniofacial Abnormalities C0376634
Relationships (83)

Relation Types:
diso_​to_​anat : 13
diso_​to_​chem : 5
diso_​to_​diso : 59
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 38
associated_​with : 1
isa : 11
location_​of : 1
mapped_​to : 28
related_​to : 2
use : 1
used_​for : 1
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN143img genetic aspects C0017399
DISO_to_PHEN96img genetic aspects C0017399
DISO_to_ANAT91img Bone structure of cranium C0037303
DISO_to_ANAT88img Cranial Sutures C0010272
DISO_to_DISO87img Complication Aspects C1171258
DISO_to_DISO59img Complication Aspects C1171258
DISO_to_ANAT58img Bone structure of cranium C0037303
DISO_to_ANAT56img Cranial Sutures C0010272
DISO_to_ANAT38img Frontal Bone C0016732
DISO_to_DISO35img Abnormalities, Multiple C0000772
DISO_to_DISO25img Abnormalities, Multiple C0000772
DISO_to_ANAT22img Frontal Bone C0016732
DISO_to_ANAT20img Parietal Bone C0030558
DISO_to_CHEM18img Fibroblast Growth Factor Receptors C0060369
DISO_to_DISO18img COMPL POSTOP C0032787
DISO_to_ANAT16img Ocular orbit C0029180
DISO_to_PHYS16img Mutation C0026882
DISO_to_DISO15img BLOOD LOSS SURG C0079027
DISO_to_DISO15img Deformational Plagiocephalies C1450010
DISO_to_DISO14img Abnormalities, Craniofacial C0376634
DISO_to_ANAT13img Bone structure of face C0015455
DISO_to_ANAT13img Ocular orbit C0029180
DISO_to_ANAT13img Parietal Bone C0030558
DISO_to_DISO13img Intracranial Hypertension C0151740
DISO_to_PHYS13img Mutation C0026882
Genes (18)

Species:
human : 18
SpeciesGeneGeneIdGene NameEvidence
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0010278
HumanRAB2351715RAB23, member RAS oncogene family
img OMIM, Score=1000, UMLKSK CUI: C0010278
HumanRECQL49401RecQ protein-like 4
img OMIM, Score=1000, UMLKSK CUI: C0010278
HumanTWIST17291twist basic helix-loop-helix transcription factor 1
img GENERIF, Score=1000, Pubmed Id: 17414280, UMLKSK CUI: C0010278
img GENERIF, Score=1000, Pubmed Id: 17343269, UMLKSK CUI: C0010278
img OMIM, Score=1000, UMLKSK CUI: C0010278
img GENERIF, Score=1000, Pubmed Id: 16502419, UMLKSK CUI: C0010278
HumanTGFBR27048transforming growth factor, beta receptor II (70/80kDa)
img OMIM, Score=1000, UMLKSK CUI: C0010278
HumanTGFBR17046transforming growth factor, beta receptor 1
img OMIM, Score=1000, UMLKSK CUI: C0010278
HumanSTAT36774signal transducer and activator of transcription 3 (acute-phase response factor)
img OMIM, Score=1000, UMLKSK CUI: C0010278
HumanPOR5447P450 (cytochrome) oxidoreductase
img OMIM, Score=1000, UMLKSK CUI: C0010278
img GENERIF, Score=1000, Pubmed Id: 16467261, UMLKSK CUI: C0010278
HumanPDGFRA5156platelet-derived growth factor receptor, alpha polypeptide
img GENERIF, Score=861, Pubmed Id: 19047372, UMLKSK CUI: C0010278
HumanNELL14745NEL-like 1 (chicken)
img GENERIF, Score=1000, Pubmed Id: 12235118, UMLKSK CUI: C0010278
HumanJUN3725jun proto-oncogene
img GENERIF, Score=901, Pubmed Id: 12815619, UMLKSK CUI: C0010278
HumanGLI32737GLI family zinc finger 3
img OMIM, Score=1000, UMLKSK CUI: C0010278
HumanFGFR22263fibroblast growth factor receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0010278
img GENERIF, Score=1000, Pubmed Id: 17189145, UMLKSK CUI: C0010278
img OMIM, Score=1000, UMLKSK CUI: C0010278
img OMIM, Score=1000, UMLKSK CUI: C0010278
img GENERIF, Score=861, Pubmed Id: 12072807, UMLKSK CUI: C0010278
img GENERIF, Score=861, Pubmed Id: 11781872, UMLKSK CUI: C0010278
img GENERIF, Score=1000, Pubmed Id: 17414280, UMLKSK CUI: C0010278
img OMIM, Score=1000, UMLKSK CUI: C0010278
img OMIM, Score=1000, UMLKSK CUI: C0010278
img OMIM, Score=1000, UMLKSK CUI: C0010278
img GAD, Score=1000, Pubmed Id: 11781872, UMLKSK CUI: C0010278
HumanFGFR32261fibroblast growth factor receptor 3
img GAD, Score=1000, Pubmed Id: 15915095, UMLKSK CUI: C0010278
img GENERIF, Score=861, Pubmed Id: 12764678, UMLKSK CUI: C0010278
img GENERIF, Score=1000, Pubmed Id: 17414280, UMLKSK CUI: C0010278
img GAD, Score=1000, Pubmed Id: 11467490, UMLKSK CUI: C0010278
HumanFGFR12260fibroblast growth factor receptor 1
img GENERIF, Score=1000, Pubmed Id: 17414280, UMLKSK CUI: C0010278
img OMIM, Score=1000, UMLKSK CUI: C0010278
img OMIM, Score=1000, UMLKSK CUI: C0010278
HumanFBN12200fibrillin 1
img OMIM, Score=1000, UMLKSK CUI: C0010278
HumanBMP4652bone morphogenetic protein 4
img OMIM, Score=1000, UMLKSK CUI: C0010278
HumanALPL249alkaline phosphatase, liver/bone/kidney
img OMIM, Score=1000, UMLKSK CUI: C0010278
img OMIM, Score=1000, UMLKSK CUI: C0010278
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0010278Craniosynostoses0self