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Details
Link-It Detail - Disease - Gonadal Dysgenesis, 46,XX
Debug Stats
  • ### Total Build Time: 61 ms 15.615 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 348 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_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
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  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (1)
Gonadal Dysgenesis, 46,XX C0949595
Definition (1)
The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (1)
img Gonadal Dysgenesis C0018051
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 (12)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 1
diso_​to_​diso : 8
diso_​to_​phen : 2


Relationships:
none : 9
mapped_​to : 2
sort_​version_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN28img genetic aspects C0017399
DISO_to_PHEN22img genetic aspects C0017399
DISO_to_DISO7img Complication Aspects C1171258
DISO_to_DISO6img Complication Aspects C1171258
DISO_to_DISO5img Disorders of Sex Development C0036875
DISO_to_ANAT4img Chromosome, Human X C1136735
DISO_to_CHEM4img Sex-Determining Region Y Protein C0084533
DISO_to_DISO4img Adrenal Hyperplasia, Congenital C0001627
DISO_to_DISO4img Gonadal Dysgenesis, 46,XY C0018054
DISO_to_DISOmapped_toimg 46,XX Gonadal dysgenesis epibulbar dermoid C2930875
DISO_to_DISOsort_version_ofimg Gonadal Dysgenesis, 46,XX C0949595
DISO_to_DISOmapped_toimg Gonadal dysgenesis XX type deafness C0685838
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0949595Gonadal Dysgenesis, 46,XX0self