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Details
Link-It Detail - Disease - Dandy-Walker Syndrome
Debug Stats
  • ### Total Build Time: 153 ms 35.059 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 340 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 348 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 1.399 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=11 ms Completed: 11 ms rowSize= 6.702 KB
  • CONCEPT_RELATIONSHIPS gt=92 ms Completed: 92 ms rowSize= 12.391 KB
  • CONCEPT_GENES gt=25 ms Completed: 25 ms rowSize= 12.521 KB
  • CONCEPT_XREFS gt=12 ms Completed: 12 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Dandy-Walker Syndrome C0010964
Definition (1)
A rare congenital brain malformation disorder characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Nervous System Malformations C0497552
img Hydrocephalus C0020255
img Cerebellar Diseases C0007760
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
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Hydrocephalus C0020255
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Hydrocephalus C0020255
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Cerebellar Diseases C0007760
Relationships (32)

Relation Types:
diso_​to_​anat : 6
diso_​to_​diso : 24
diso_​to_​phen : 2


Relationships:
none : 19
expanded_​form_​of : 1
isa : 1
mapped_​to : 11
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO40img Complication Aspects C1171258
DISO_to_DISO39img Complication Aspects C1171258
DISO_to_PHEN31img genetic aspects C0017399
DISO_to_PHEN25img genetic aspects C0017399
DISO_to_DISO16img Abnormalities, Multiple C0000772
DISO_to_DISO15img Abnormalities, Multiple C0000772
DISO_to_ANAT10img Cerebellum C0007765
DISO_to_DISO10img Hydrocephalus C0020255
DISO_to_ANAT9img Cranial Fossa, Posterior C0010265
DISO_to_ANAT8img Brain C0006104
DISO_to_DISO7img Chromosome Deletion C0008628
DISO_to_ANAT6img Cerebellum C0007765
DISO_to_DISO6img Melanosis C0025209
DISO_to_ANAT5img 9 chromosome C0008672
DISO_to_ANAT5img Brain C0006104
DISO_to_DISO5img Chromosomal Triplication C0041107
DISO_to_DISO5img FACIAL NEOPL C0015461
DISO_to_DISO5img Hemangioma C0018916
DISO_to_DISO5img Neurocutaneous Syndromes C0265316
DISO_to_DISOmapped_toimg 3C SYNDROME C0796137
DISO_to_DISOmapped_toimg Aughton Sloan Milad syndrome C2931823
DISO_to_DISOmapped_toimg Chitayat Moore Del Bigio syndrome C2931065
DISO_to_DISOmapped_toimg Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus C1852488
DISO_to_DISOmapped_toimg DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES C0796254
DISO_to_DISOmapped_toimg DWM WITH POSTAXIAL POLYDACTYLY C1857351
Genes (14)

Species:
human : 14
SpeciesGeneGeneIdGene NameEvidence
HumanEVC2132884Ellis van Creveld syndrome 2
img OMIM, Score=1000, UMLKSK CUI: C0010964
HumanZIC484107Zic family member 4
img GENERIF, Score=1000, Pubmed Id: 15338008, UMLKSK CUI: C0010964
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0010964
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0010964
HumanPOMT229954protein-O-mannosyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0010964
HumanEBP10682emopamil binding protein (sterol isomerase)
img OMIM, Score=1000, UMLKSK CUI: C0010964
HumanPOMT110585protein-O-mannosyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0010964
HumanCD9610225CD96 molecule
img OMIM, Score=1000, UMLKSK CUI: C0010964
HumanLARGE9215like-glycosyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0010964
HumanPLG5340plasminogen
img OMIM, Score=1000, UMLKSK CUI: C0010964
HumanB4GALT12683UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
img OMIM, Score=1000, UMLKSK CUI: C0010964
HumanFKTN2218fukutin
img OMIM, Score=1000, UMLKSK CUI: C0010964
HumanEVC2121Ellis van Creveld syndrome
img OMIM, Score=1000, UMLKSK CUI: C0010964
HumanBUB1B701BUB1 mitotic checkpoint serine/threonine kinase B
img OMIM, Score=1000, UMLKSK CUI: C0010964
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0010964Dandy-Walker Syndrome0self