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Details
Link-It Detail - Disease - Gonadal Dysgenesis
Debug Stats
  • ### Total Build Time: 60 ms 36.321 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 334 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_GENES gt=57 ms Completed: 57 ms rowSize= 10.233 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Gonadal Dysgenesis C0018051
Definition (1)
A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (1)
img Disorders of Sex Development C0036875
Children (5)
img Turner Syndrome C0041408
img Gonadal Dysgenesis, 46,XY C0018054
img Sexual Infantilism C0242341
img Gonadal Dysgenesis, Mixed C0018055
img Gonadal Dysgenesis, 46,XX C0949595
Ancestral Roots
RootRoot Plus OneDepthParent
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208875img Disorders of Sex Development C0036875
img Male Urogenital Diseases C1720894img Urogenital Abnormalities C00420634img Disorders of Sex Development C0036875
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Disorders of Sex Development C0036875
img Endocrine System Diseases C0014130img Gonadal Disorders C00180504img Disorders of Sex Development C0036875
img Mental Disorders C0004936img Sexual and Gender Disorders C05250474img Disorders of Sex Development C0036875
Relationships (44)

Relation Types:
diso_​to_​anat : 8
diso_​to_​chem : 1
diso_​to_​diso : 28
diso_​to_​gene : 2
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 20
classifies : 2
gene_​associated_​with_​disease : 2
gene_​product_​malfunction_​associated_​with_​disease : 1
is_​associated_​anatomic_​site_​of : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 3
mapped_​to : 13
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN42img genetic aspects C0017399
DISO_to_PHEN31img genetic aspects C0017399
DISO_to_ANAT17img Testis C0039597
DISO_to_DISO16img Complication Aspects C1171258
DISO_to_ANAT15img Testis C0039597
DISO_to_DISO9img Complication Aspects C1171258
DISO_to_DISO8img Cryptorchidism C0010417
DISO_to_DISO8img Testicular Neoplasms C0039590
DISO_to_DISO7img Abnormalities, Multiple C0000772
DISO_to_DISO7img chemically induced C0007994
DISO_to_ANAT6img Ovary C0029939
DISO_to_DISO6img chemically induced C0007994
DISO_to_PHYS6img Mutation C0026882
DISO_to_ANAT5img Chromosome, Human X C1136735
DISO_to_ANAT5img Chromosome, Human Y C1136736
DISO_to_ANAT5img Gonadal structure C0018067
DISO_to_DISO5img Disorders of Sex Development C0036875
DISO_to_DISO5img Testicular Diseases C0039584
DISO_to_PHYS5img Determination Process, Sex C0524972
DISO_to_PHYS5img Sex Determination Processes C0524972
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Gonadal structure C0018067
DISO_to_ANATis_associated_anatomic_site_ofimg Reproductive system C1261210
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg Follicle Stimulating Hormone Receptor C0034806
DISO_to_DISOisaimg 45, X/46, XY mosaicism C0018055
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanWT17490Wilms tumor 1
img OMIM, Score=1000, UMLKSK CUI: C0018051
HumanSTK116794serine/threonine kinase 11
img OMIM, Score=1000, UMLKSK CUI: C0018051
HumanSTAT16772signal transducer and activator of transcription 1, 91kDa
INFERRED, Score=800, UMLKSK CUI: C0018051
HumanSRY6736sex determining region Y
img GENERIF, Score=1000, Pubmed Id: 15155818, UMLKSK CUI: C0018051
img GENERIF, Score=1000, Pubmed Id: 12483463, UMLKSK CUI: C0018051
HumanSHOX6473short stature homeobox
INFERRED, Score=800, UMLKSK CUI: C0018051
HumanSHBG6462sex hormone-binding globulin
img GENERIF, Score=1000, Pubmed Id: 15146368, UMLKSK CUI: C0018051
HumanKIT3815v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
img OMIM, Score=1000, UMLKSK CUI: C0018051
HumanFSHR2492follicle stimulating hormone receptor
img OMIM, Score=1000, UMLKSK CUI: C0018051
HumanFGF92254fibroblast growth factor 9
img GENERIF, Score=1000, Pubmed Id: 17154280, UMLKSK CUI: C0018051
HumanF82157coagulation factor VIII, procoagulant component
INFERRED, Score=800, UMLKSK CUI: C0018051
HumanAR367androgen receptor
INFERRED, Score=800, UMLKSK CUI: C0018051
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0018051Gonadal Dysgenesis0self