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Details
Link-It Detail - Disease - Frasier Syndrome
Debug Stats
  • ### Total Build Time: 40 ms 15.973 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 439 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=0 Completed: 0 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 1,001 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=8 ms Completed: 8 ms rowSize= 4.151 KB
  • CONCEPT_RELATIONSHIPS gt=15 ms Completed: 15 ms rowSize= 7.292 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 1.374 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Frasier Syndrome C0950122
Definition (1)
A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (2)
img Kidney Failure, Chronic C0022661
img Genetic Diseases, Inborn C0950123
Ancestral Roots
RootRoot Plus OneDepthParent
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208878img Kidney Failure, Chronic C0022661
img Male Urogenital Diseases C1720894img Urologic Diseases C00420757img Kidney Failure, Chronic C0022661
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
Relationships (15)

Relation Types:
diso_​to_​diso : 12
diso_​to_​gene : 1
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 4
inheritance_​type_​of : 1
manifestation_​of : 9
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN12img genetic aspects C0017399
DISO_to_GENE6img Genes, Wilm C0079433
DISO_to_DISO5img Complication Aspects C1171258
DISO_to_PHYS4img Mutation C0026882
DISO_to_DISOmanifestation_ofimg Amenorrhea, primary ICD10CM:N91.0 C3276780
DISO_to_DISOmanifestation_ofimg Caused by mutations in the Wilms tumor 1 gene (WT1, 607102.0018). C1850974
DISO_to_DISOmanifestation_ofimg Chronic renal failure ICD10CM:N18.9 C3276057
DISO_to_DISOpermuted_term_ofimg FRASIER SYNDROME C0950122
DISO_to_DISOmanifestation_ofimg Focal and segmental glomerular sclerosis C1850973
DISO_to_DISOmanifestation_ofimg GBY C0206661
DISO_to_DISOmanifestation_ofimg Male Pseudohermaphroditism C0238395
DISO_to_DISOmanifestation_ofimg Nephrotic Syndrome C0027726
DISO_to_DISOmanifestation_ofimg Phenotypic overlap with Denys-Drash syndrome (194080). C1850975
DISO_to_DISOmanifestation_ofimg Pure gonadal dysgenesis C0687149
DISO_to_DISOinheritance_type_ofimg Somatic mutation C0544886
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanWT17490Wilms tumor 1
img OMIM, Score=1000, UMLKSK CUI: C0950122
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0950122Frasier Syndrome0self