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Details
Link-It Detail - Disease - AT/RT
Debug Stats
  • ### Total Build Time: 53 ms 16.625 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 308 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 518 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=30 ms Completed: 30 ms rowSize= 11.195 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 3.413 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.140 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
AT/RT C1266184
Definition (1)
An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. It may be associated with loss of chromosome 22. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia.
Relationships (19)

Relation Types:
diso_​to_​anat : 7
diso_​to_​diso : 12


Relationships:
disease_​has_​associated_​disease : 1
is_​abnormal_​cell_​of_​disease : 3
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 2
is_​normal_​cell_​origin_​of_​disease : 1
is_​normal_​tissue_​origin_​of_​disease : 1
is_​not_​finding_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 1
may_​be_​abnormal_​cell_​of_​disease : 1
may_​be_​cytogenetic_​abnormality_​of_​disease : 1
may_​be_​finding_​of_​disease : 3
may_​be_​molecular_​abnormality_​of_​disease : 1
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATis_abnormal_cell_of_diseaseimg Cancer Cell C0334227
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Central Nervous System C0927232
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Embryonic Cell C1947950
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg Embryonic tissue C0920502
DISO_to_ANATis_abnormal_cell_of_diseaseimg Malignant Cell with Large Nucleus and Abundant Eosinophilic Cytoplasm C1708863
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Cell C0597032
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_DISOmay_be_finding_of_diseaseimg Aggressive Clinical Course C1332223
DISO_to_DISOisaimg Childhood Atypical Teratoid/Rhabdoid Tumor C2347613
DISO_to_DISOdisease_has_associated_diseaseimg Familial Posterior Fossa Brain Tumor Syndrome of Infancy C2985524
DISO_to_DISOmay_be_finding_of_diseaseimg High Mitotic Activity C1334022
DISO_to_DISOis_not_finding_of_diseaseimg Indolent Clinical Course C1334168
DISO_to_DISOis_finding_of_diseaseimg Intermediate Filaments Present C1708535
DISO_to_DISOis_finding_of_diseaseimg Intracytoplasmic Eosinophilic Inclusion C1711292
DISO_to_DISOmay_be_cytogenetic_abnormality_of_diseaseimg Loss of Chromosome 22 C1517976
DISO_to_DISOmay_be_finding_of_diseaseimg Necrotic changes (finding) C1334928
DISO_to_DISOmay_be_abnormal_cell_of_diseaseimg Non-Neoplastic Osteoclast-Like Giant Cell C1709251
DISO_to_DISOrelated_toimg RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) C1836327
DISO_to_DISOmay_be_molecular_abnormality_of_diseaseimg SMARCB1 Gene Inactivation C1515645
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanSYP6855synaptophysin
img NCI, Score=801, Pubmed Id: 14531545, UMLKSK CUI: C1266184
HumanPRPH5630peripherin
img NCI, Score=801, Pubmed Id: 14531545, UMLKSK CUI: C1266184
img NCI, Score=801, Pubmed Id: 14531545, UMLKSK CUI: C1266184
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1266184AT/RT0self