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Details
Link-It Detail - Disease - Neural Tube Defects
Debug Stats
  • ### Total Build Time: 196 ms 39.547 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 1.083 KB
  • 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=1 ms Completed: 1 ms rowSize= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=14 ms Completed: 14 ms rowSize= 564 bytes
  • CONCEPT_CHILDREN gt=9 ms Completed: 9 ms rowSize= 2.660 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=8 ms Completed: 8 ms rowSize= 2.854 KB
  • CONCEPT_RELATIONSHIPS gt=119 ms Completed: 119 ms rowSize= 13.381 KB
  • CONCEPT_GENES gt=36 ms Completed: 36 ms rowSize= 17.323 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Neural Tube Defects C0027794
Definition (1)

Neural tube defects are birth defects of the brain and spinal cord. The two most common neural tube defects are spina bifida and anencephaly. In spina bifida, the fetal spinal column doesn't close completely during the first month of pregnancy. There is usually nerve damage that causes at least some paralysis of the legs. In anencephaly, much of the brain does not develop. Babies with anencephaly are either stillborn or die shortly after birth.

Getting enough folic acid, a type of B vitamin, before and during pregnancy prevents most neural tube defects. Treatments for neural tube defects vary depending on the type of defect.

NIH: National Institute of Child Health and Human Development

Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Nervous System Malformations C0497552
Children (6)
img Spinal Dysraphism C0080178
img Meningocele C0025299
img Encephalocele C0014065
img Meningomyelocele C0025312
img Anencephaly C0002902
img Arnold-Chiari Malformation C0003803
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Nervous System Malformations C0497552
img Nervous System Diseases C0027765img Nervous System Malformations C04975523img Nervous System Malformations C0497552
Relationships (80)

Relation Types:
diso_​to_​anat : 9
diso_​to_​chem : 24
diso_​to_​diso : 41
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 55
isa : 11
mapped_​to : 2
may_​prevent : 7
permuted_​term_​of : 1
related_​to : 4
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM221img Folic Acid C0016410
DISO_to_CHEM216img Folic Acid C0016410
DISO_to_PHEN171img genetic aspects C0017399
DISO_to_PHEN163img genetic aspects C0017399
DISO_to_DISO110img Complication Aspects C1171258
DISO_to_DISO90img Complication Aspects C1171258
DISO_to_CHEM58img Vitamin B Complex C0042849
DISO_to_DISO56img chemically induced C0007994
DISO_to_ANAT42img Spinal Cord C0037925
DISO_to_DISO41img chemically induced C0007994
DISO_to_ANAT32img In Blood C0005768
DISO_to_DISO31img Abnormalities, Multiple C0000772
DISO_to_DISO27img Folic Acid Deficiency C0016412
DISO_to_DISO27img Pregnancy Complications C0032962
DISO_to_ANAT25img Cauda Equina C0007458
DISO_to_DISO25img Spina Bifida C0080178
DISO_to_DISO23img Abnormalities, Multiple C0000772
DISO_to_ANAT22img Neural Tube C0231024
DISO_to_ANAT22img Spinal Cord C0037925
DISO_to_DISO21img Spina Bifida C0080178
DISO_to_ANAT20img In Blood C0005768
DISO_to_CHEM20img TRANSCRIPTION FACTOR C0040648
DISO_to_CHEM20img Transcription Factors C0040648
DISO_to_DISO20img Meningomyelocele C0025312
DISO_to_PHYS20img GENET PREDISPOSITION C0314657
Genes (55)

Species:
human : 55
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanFREM2341640FRAS1 related extracellular matrix protein 2
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanHYLS1219844hydrolethalus syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanVANGL181839VANGL planar cell polarity protein 1
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanFRAS180144Fraser syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanPORCN64840porcupine homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanSALL457167sal-like 4 (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanMKS154903Meckel syndrome, type 1
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanRAB2351715RAB23, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanCUL79820cullin 7
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanALDH1A28854aldehyde dehydrogenase 1 family, member A2
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanVIM7431vimentin
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanUCP27351uncoupling protein 2 (mitochondrial, proton carrier)
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanTGFBR27048transforming growth factor, beta receptor II (70/80kDa)
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanTGFBR17046transforming growth factor, beta receptor 1
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanT6862T, brachyury homolog (mouse)
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanSLC19A16573solute carrier family 19 (folate transporter), member 1
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanSLC2A16513solute carrier family 2 (facilitated glucose transporter), member 1
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanCCL26347chemokine (C-C motif) ligand 2
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanSC5DL6309
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanPTPN115781protein tyrosine phosphatase, non-receptor type 11
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanPRKCB5579protein kinase C, beta
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanPRKCA5578protein kinase C, alpha
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanPOR5447P450 (cytochrome) oxidoreductase
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanPCYT1A5130phosphate cytidylyltransferase 1, choline, alpha
INFERRED, Score=800, UMLKSK CUI: C0027794
HumanPAX35077paired box 3
INFERRED, Score=800, UMLKSK CUI: C0027794
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0027794Neural Tube Defects0self