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Details
Link-It Detail - Disease - Acrocallosal Syndrome
Debug Stats
  • ### Total Build Time: 276 ms 19.699 KB
  • CONCEPT_NAME gt=15 ms Completed: 15 ms rowSize= 340 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 364 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=2 ms Completed: 2 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=14 ms Completed: 14 ms rowSize= 563 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=30 ms Completed: 30 ms rowSize= 4.170 KB
  • CONCEPT_RELATIONSHIPS gt=200 ms Completed: 200 ms rowSize= 12.874 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Acrocallosal Syndrome C0796147
Definition (1)
Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Agenesis of Corpus Callosum C0175754
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Pathological Conditions, Anatomical C07521354img Agenesis of Corpus Callosum C0175754
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Agenesis of Corpus Callosum C0175754
img Nervous System Diseases C0027765img Nervous System Malformations C04975524img Agenesis of Corpus Callosum C0175754
Relationships (60)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 58
diso_​to_​phen : 1


Relationships:
none : 4
manifestation_​of : 53
mapped_​to : 1
related_​to : 2
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN15img genetic aspects C0017399
DISO_to_DISO12img Complication Aspects C1171258
DISO_to_DISO7img Agenesis of Corpus Callosum C0175754
DISO_to_DISO5img Intellectual Disability C0025362
DISO_to_ANATmanifestation_ofimg Palpebronasal fold C0229249
DISO_to_DISOmanifestation_ofimg ANAL IMPERFORATION C0003466
DISO_to_DISOmanifestation_ofimg Accessory tragus C0266609
DISO_to_DISOrelated_toimg Acrocallosal Syndrome C0796147
DISO_to_DISOmapped_toimg Acrocallosal syndrome, Schinzel type C2931760
DISO_to_DISOmanifestation_ofimg Anus, Imperforate C0003466
DISO_to_DISOmanifestation_ofimg BRACHYDACTYLY C0221357
DISO_to_DISOmanifestation_ofimg Bifid terminal phalanges of thumbs C1860162
DISO_to_DISOmanifestation_ofimg Broad nasal bridge C1864688
DISO_to_DISOmanifestation_ofimg Byzanthine arch palate C0240635
DISO_to_DISOmanifestation_ofimg CL - Cleft lip C0008924
DISO_to_DISOmanifestation_ofimg Cardiac Septal Defects C0018816
DISO_to_DISOmanifestation_ofimg Caused by mutation in the kinesin family member 7 gene (KIF7, 611254.0001) C3277727
DISO_to_DISOmanifestation_ofimg Cleft Lip C0008924
DISO_to_DISOmanifestation_ofimg Cleft Palate C0008925
DISO_to_DISOmanifestation_ofimg Clinodactyly (fifth finger) C1857528
DISO_to_DISOmanifestation_ofimg Coloboma (1 patient) C3277726
DISO_to_DISOmanifestation_ofimg Congenital hypoplasia of penis C0266435
DISO_to_DISOmanifestation_ofimg Cryptorchidism C0010417
DISO_to_DISOmanifestation_ofimg Decreased retinal pigmentation C1860160
DISO_to_DISOmanifestation_ofimg Deep-set ears C3277725
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0796147Acrocallosal Syndrome0self