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 - Encephalocele
Debug Stats
  • ### Total Build Time: 79 ms 25.863 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 589 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= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 979 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.134 KB
  • CONCEPT_RELATIONSHIPS gt=54 ms Completed: 54 ms rowSize= 13.042 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 5.471 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Encephalocele C0014065
Definition (1)
Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.
Semantic Types (1)
Anatomical Abnormality (T190)
Parents (2)
img Hernia C0019270
img Neural Tube Defects C0027794
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Pathological Conditions, Anatomical C07521354img Hernia C0019270
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Neural Tube Defects C0027794
img Nervous System Diseases C0027765img Nervous System Malformations C04975524img Neural Tube Defects C0027794
Relationships (72)

Relation Types:
diso_​to_​anat : 17
diso_​to_​diso : 53
diso_​to_​phen : 2


Relationships:
none : 34
associated_​with : 2
classifies : 2
is_​associated_​anatomic_​site_​of : 1
isa : 7
location_​of : 2
mapped_​to : 24
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO86img Complication Aspects C1171258
DISO_to_DISO73img Meningocele C0025299
DISO_to_DISO63img Complication Aspects C1171258
DISO_to_DISO53img Meningocele C0025299
DISO_to_PHEN28img genetic aspects C0017399
DISO_to_DISO25img CSF - Cerebrospinal rhinorrhea C0007815
DISO_to_ANAT18img Cerebellum C0007765
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_DISO16img Abnormalities, Multiple C0000772
DISO_to_DISO16img COMPL POSTOP C0032787
DISO_to_DISO14img CEREBELLAR ABNORMALITIES C0007760
DISO_to_ANAT13img Ethmoid Bone C0015027
DISO_to_ANAT13img Sphenoid Sinus C0037885
DISO_to_DISO13img Arnold-Chiari Malformation C0003803
DISO_to_ANAT12img Bone structure of cranium C0037303
DISO_to_DISO12img Abnormalities, Multiple C0000772
DISO_to_DISO12img CSF - Cerebrospinal rhinorrhea C0007815
DISO_to_ANAT10img Brain C0006104
DISO_to_ANAT10img Frontal Bone C0016732
DISO_to_ANAT10img Nasal Cavity C0027423
DISO_to_ANAT10img Sphenoid Sinus C0037885
DISO_to_DISO10img CEREBELLAR ABNORMALITIES C0007760
DISO_to_DISO10img Hydrocephalus C0020255
DISO_to_ANAT9img Sphenoid Bone C0037884
DISO_to_DISO9img Ciliary Motility Disorders C0008780
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img OMIM, Score=1000, UMLKSK CUI: C0014065
HumanFRAS180144Fraser syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0014065
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0014065
HumanGLI32737GLI family zinc finger 3
img OMIM, Score=833, UMLKSK CUI: C0014065
HumanFLNB2317filamin B, beta
img OMIM, Score=1000, UMLKSK CUI: C0014065
HumanFKTN2218fukutin
img OMIM, Score=1000, UMLKSK CUI: C0014065
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0014065Encephalocele0self