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Details
Link-It Detail - Disease - Anencephaly
Debug Stats
  • ### Total Build Time: 24 ms 24.290 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 320 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 677 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=4 ms Completed: 4 ms rowSize= 1,003 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 4.166 KB
  • CONCEPT_RELATIONSHIPS gt=12 ms Completed: 12 ms rowSize= 11.176 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 5.628 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Anencephaly C0002902
Definition (1)
A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)
Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Neural Tube Defects C0027794
img Abnormalities, Severe Teratoid C2713367
Ancestral Roots
RootRoot Plus OneDepthParent
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
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Severe Teratoid C2713367
Relationships (25)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 1
diso_​to_​diso : 19
diso_​to_​phen : 1


Relationships:
none : 7
associated_​with : 1
classifies : 2
entry_​version_​of : 1
isa : 2
location_​of : 3
mapped_​to : 9
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN12img genetic aspects C0017399
DISO_to_CHEM9img Folic Acid C0016410
DISO_to_DISO9img Spina Bifida C0080178
DISO_to_DISO8img Abnormalities, Multiple C0000772
DISO_to_ANAT7img Fetus C0015965
DISO_to_DISO7img DIS IN TWINS C0012675
DISO_to_DISO7img Spina Bifida C0080178
DISO_to_ANATlocation_ofimg Bone structure of cranium C0037303
DISO_to_ANATlocation_ofimg Cerebral hemisphere structure (body structure) C0228174
DISO_to_ANATlocation_ofimg Entire fetus C1305737
DISO_to_DISOmapped_toimg APROSENCEPHALY SYNDROME C0795952
DISO_to_DISOmapped_toimg Acrania C0702169
DISO_to_DISOmapped_toimg Amyelencephalus C0266672
DISO_to_DISOisaimg Anencephalus and similar anomalies C0158530
DISO_to_DISOentry_version_ofimg Anencephaly C0002902
DISO_to_DISOmapped_toimg Anencephaly and spina bifida X-linked C2931178
DISO_to_DISOassociated_withimg Congenital absence C0332907
DISO_to_DISOmapped_toimg Congenital absence of cerebrum C0266452
DISO_to_DISOclassifiesimg Congenital neurologic anomalies C0497552
DISO_to_DISOisaimg Fetal or suspected fetal anencephaly affecting management of mother C0269766
DISO_to_DISOmapped_toimg Holoanencephaly C1562694
DISO_to_DISOmapped_toimg NTD, FOLATE-SENSITIVE C1866558
DISO_to_DISOclassifiesimg Other congenital anomalies of nervous system C0158538
DISO_to_DISOmapped_toimg Podencephalus C0266671
DISO_to_DISOmapped_toimg incomplete anencephaly, hemicrania C0302356
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanHYLS1219844hydrolethalus syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0002902
HumanVANGL181839VANGL planar cell polarity protein 1
img OMIM, Score=1000, UMLKSK CUI: C0002902
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0002902
HumanT6862T, brachyury homolog (mouse)
img OMIM, Score=1000, UMLKSK CUI: C0002902
HumanCCL26347chemokine (C-C motif) ligand 2
img OMIM, Score=1000, UMLKSK CUI: C0002902
HumanMTHFR4524methylenetetrahydrofolate reductase (NAD(P)H)
img GENERIF, Score=1000, Pubmed Id: 17439956, UMLKSK CUI: C0002902
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0002902Anencephaly0self