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Details
Link-It Detail - Disease - Arnold-Chiari Malformation
Debug Stats
  • ### Total Build Time: 145 ms 25.422 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 310 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=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=11 ms Completed: 11 ms rowSize= 555 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=9 ms Completed: 9 ms rowSize= 2.836 KB
  • CONCEPT_RELATIONSHIPS gt=101 ms Completed: 101 ms rowSize= 12.522 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 7.495 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Arnold-Chiari Malformation C0003803
Definition (1)
A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Neural Tube Defects C0027794
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
Relationships (43)

Relation Types:
diso_​to_​anat : 17
diso_​to_​diso : 24
diso_​to_​phen : 2


Relationships:
none : 32
associated_​with : 2
isa : 4
location_​of : 3
mapped_​to : 1
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO229img Complication Aspects C1171258
DISO_to_DISO177img Complication Aspects C1171258
DISO_to_DISO130img Syringomyelia C0039144
DISO_to_DISO75img Syringomyelia C0039144
DISO_to_ANAT36img Cranial Fossa, Posterior C0010265
DISO_to_ANAT22img Dura Mater C0013313
DISO_to_ANAT22img Foramen Magnum C0016519
DISO_to_ANAT21img Cerebellum C0007765
DISO_to_DISO21img COMPL POSTOP C0032787
DISO_to_DISO20img Hydrocephalus C0020255
DISO_to_DISO19img Scoliosis C0036439
DISO_to_ANAT18img Cranial Fossa, Posterior C0010265
DISO_to_PHEN18img genetic aspects C0017399
DISO_to_DISO17img CANINE DIS C0012979
DISO_to_DISO17img Hydrocephalus C0020255
DISO_to_DISO17img Meningomyelocele C0025312
DISO_to_ANAT16img Cerebellum C0007765
DISO_to_DISO15img Scoliosis C0036439
DISO_to_ANAT13img Rhombencephalon C0035507
DISO_to_DISO13img Encephalocele C0014065
DISO_to_ANAT12img Brain Stem C0006121
DISO_to_ANAT12img Occipital Bone C0028784
DISO_to_DISO12img Headache C0018681
DISO_to_PHEN12img genetic aspects C0017399
DISO_to_DISO11img COMPL POSTOP C0032787
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0003803
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0003803
HumanVIM7431vimentin
img GENERIF, Score=913, Pubmed Id: 15255035, UMLKSK CUI: C0003803
HumanTGFBR27048transforming growth factor, beta receptor II (70/80kDa)
img OMIM, Score=1000, UMLKSK CUI: C0003803
HumanTGFBR17046transforming growth factor, beta receptor 1
img OMIM, Score=1000, UMLKSK CUI: C0003803
HumanPOR5447P450 (cytochrome) oxidoreductase
img OMIM, Score=1000, UMLKSK CUI: C0003803
HumanFGFR22263fibroblast growth factor receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0003803
HumanFGFR12260fibroblast growth factor receptor 1
img OMIM, Score=1000, UMLKSK CUI: C0003803
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0003803Arnold-Chiari Malformation0self