Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Gonadal Dysgenesis, 46,XY
Debug Stats
  • ### Total Build Time: 13 ms 23.905 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 348 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 786 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=0 Completed: 0 ms rowSize= 554 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 552 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 6.691 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 10.884 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 2.715 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Gonadal Dysgenesis, 46,XY C0018054
Definition (1)
Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (1)
img Gonadal Dysgenesis C0018051
Children (1)
img Gonadoblastoma C0206661
Ancestral Roots
RootRoot Plus OneDepthParent
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208876img Gonadal Dysgenesis C0018051
img Male Urogenital Diseases C1720894img Urogenital Abnormalities C00420635img Gonadal Dysgenesis C0018051
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Gonadal Dysgenesis C0018051
img Endocrine System Diseases C0014130img Gonadal Disorders C00180505img Gonadal Dysgenesis C0018051
img Mental Disorders C0004936img Sexual and Gender Disorders C05250475img Gonadal Dysgenesis C0018051
Relationships (25)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 17
diso_​to_​gene : 1
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 14
mapped_​to : 10
sort_​version_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN95img genetic aspects C0017399
DISO_to_PHEN45img genetic aspects C0017399
DISO_to_DISO31img Complication Aspects C1171258
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_DISO14img DYSGERMINOMA, MALIGNANT C0013377
DISO_to_DISO12img Disorders of Sex Development C0036875
DISO_to_DISO12img GBY C0206661
DISO_to_DISO12img Ovarian Neoplasms C0919267
DISO_to_PHYS12img Mutation C0026882
DISO_to_ANAT11img In Blood C0005768
DISO_to_CHEM10img Steroidogenic Factor 1 C0171961
DISO_to_CHEM10img TRANSCRIPTION FACTOR C0040648
DISO_to_CHEM9img Sex-Determining Region Y Protein C0084533
DISO_to_GENE9img Genes, sry C0949635
DISO_to_DISOmapped_toimg 46, XY Sex Reversal 5 C2751317
DISO_to_DISOmapped_toimg 46, XY female C0432470
DISO_to_DISOmapped_toimg 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH 9p24.3 DELETION C2752149
DISO_to_DISOmapped_toimg 46,XY Sex Reversal 3 C3489793
DISO_to_DISOmapped_toimg 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy C2751325
DISO_to_DISOmapped_toimg Agonadism mental retardation delayed bone age C2931396
DISO_to_DISOmapped_toimg Congenital absence of both testes C1261504
DISO_to_DISOmapped_toimg GARDNER-SILENGO-WACHTEL SYNDROME C1856466
DISO_to_DISOsort_version_ofimg Gonadal Dysgenesis, 46,XY C0018054
DISO_to_DISOmapped_toimg Meacham Winn Culler syndrome C2931752
DISO_to_DISOmapped_toimg Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal C1864185
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanSRY6736sex determining region Y
img GAD, Score=1000, Pubmed Id: 9341876, UMLKSK CUI: C0018054
HumanF82157coagulation factor VIII, procoagulant component
img GENERIF, Score=694, Pubmed Id: 16601852, UMLKSK CUI: C0018054
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0018054Gonadal Dysgenesis, 46,XY0self