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Details
Link-It Detail - Disease - Gonadal Dysgenesis, Mixed
Debug Stats
  • ### Total Build Time: 48 ms 13.489 KB
  • CONCEPT_NAME gt=15 ms Completed: 15 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_XREFS gt=7 ms Completed: 7 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (1)
Gonadal Dysgenesis, Mixed C0018055
Definition (1)
A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.
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 (7)

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


Relationships:
none : 7
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN27img genetic aspects C0017399
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_ANAT10img Chromosome, Human Y C1136736
DISO_to_DISO10img Complication Aspects C1171258
DISO_to_DISO8img Disorders of Sex Development C0036875
DISO_to_DISO8img Sex Chromosome Aberrations C0036868
DISO_to_PHYS8img Mosaicism C0026578
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0018055Gonadal Dysgenesis, Mixed0self