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Details
Link-It Detail - Disease - Agenesis of Corpus Callosum
Debug Stats
  • ### Total Build Time: 116 ms 31.638 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 483 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=11 ms Completed: 11 ms rowSize= 235 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=1 ms Completed: 1 ms rowSize= 1,017 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 994 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.180 KB
  • CONCEPT_RELATIONSHIPS gt=81 ms Completed: 81 ms rowSize= 13.456 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 9.805 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Agenesis of Corpus Callosum C0175754
Definition (1)
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
Semantic Types (2)
Finding (T033)
Congenital Abnormality (T019)
Parents (2)
img Pathological Conditions, Anatomical C0752135
img Nervous System Malformations C0497552
Children (2)
img Acrocallosal Syndrome C0796147
img Holoprosencephaly C0079541
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Pathological Conditions, Anatomical C07521353img Pathological Conditions, Anatomical C0752135
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 (67)

Relation Types:
diso_​to_​anat : 11
diso_​to_​chem : 1
diso_​to_​diso : 52
diso_​to_​phen : 1
diso_​to_​phys : 2


Relationships:
none : 38
associated_​with : 1
is_​associated_​anatomic_​site_​of : 1
isa : 2
location_​of : 1
mapped_​to : 23
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO36img Abnormalities, Multiple C0000772
DISO_to_ANAT31img Corpus Callosum C0010090
DISO_to_ANAT27img Corpus Callosum C0010090
DISO_to_DISO26img Abnormalities, Multiple C0000772
DISO_to_DISO17img Brain Diseases C0006111
DISO_to_DISO16img Congenital neurologic anomalies C0497552
DISO_to_DISO15img Congenital neurologic anomalies C0497552
DISO_to_DISO14img Chromosome Deletion C0008628
DISO_to_DISO12img Intellectual Disability C0025362
DISO_to_ANAT11img 1 chromosome C0008651
DISO_to_ANAT11img Brain C0006104
DISO_to_ANAT11img Chromosomes, Human, Pair 1 C0008651
DISO_to_DISO11img Infantile spasms C0037769
DISO_to_PHEN11img genetic aspects C0017399
DISO_to_PHYS11img Mutation C0026882
DISO_to_DISO10img Complication Aspects C1171258
DISO_to_DISO10img Spastic Paraplegia, Hereditary C0037773
DISO_to_ANAT9img Cerebral Cortex C0007776
DISO_to_DISO8img Schizophrenia C0036341
DISO_to_DISO7img Acrocallosal Syndrome C0796147
DISO_to_DISO7img Developmental Disabilities C0008073
DISO_to_DISO7img Lipoma C0023798
DISO_to_PHYS7img Functional Laterality C1720777
DISO_to_ANAT6img Brain C0006104
DISO_to_ANAT6img Cerebral Cortex C0007776
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanSFTPA1653509surfactant protein A1
img OMIM, Score=1000, UMLKSK CUI: C0175754
HumanELMOD2255520ELMO/CED-12 domain containing 2
img OMIM, Score=1000, UMLKSK CUI: C0175754
HumanHYLS1219844hydrolethalus syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0175754
HumanPDHX8050pyruvate dehydrogenase complex, component X
img OMIM, Score=1000, UMLKSK CUI: C0175754
HumanTERT7015telomerase reverse transcriptase
img OMIM, Score=1000, UMLKSK CUI: C0175754
HumanSFTPC6440surfactant protein C
img OMIM, Score=1000, UMLKSK CUI: C0175754
HumanGLI32737GLI family zinc finger 3
img OMIM, Score=1000, UMLKSK CUI: C0175754
HumanGLDC2731glycine dehydrogenase (decarboxylating)
img OMIM, Score=1000, UMLKSK CUI: C0175754
HumanGCSH2653glycine cleavage system protein H (aminomethyl carrier)
img OMIM, Score=1000, UMLKSK CUI: C0175754
HumanCPT21376carnitine palmitoyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0175754
HumanAMT275aminomethyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0175754
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0175754Agenesis of Corpus Callosum0self