XY gonadal dysgenesis

gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo
MedicalCondition rare_disease Q957751
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XY gonadal dysgenesis

Summary

XY gonadal dysgenesis is a rare disease[1]. It has Wikipedia articles in 17 language editions, a strong signal of global cultural recognition.[2]

Key Facts

  • XY gonadal dysgenesis's instance of is recorded as rare disease[3].
  • XY gonadal dysgenesis's instance of is recorded as class of disease[4].
  • XY gonadal dysgenesis's instance of is recorded as intersex variation[5].
  • Gerald Swyer is named after XY gonadal dysgenesis[6].
  • XY gonadal dysgenesis is a type of gonadal dysgenesis[7].
  • XY gonadal dysgenesis is a type of disorder of sex development, 46,XY[8].
  • XY gonadal dysgenesis is a type of disease[9].
  • XY gonadal dysgenesis's NCI Thesaurus ID is recorded as C120198[10].
  • XY gonadal dysgenesis's different from is recorded as Swyer-James syndrome[11].
  • XY gonadal dysgenesis's health specialty is recorded as medical genetics[12].
  • XY gonadal dysgenesis's genetic association is recorded as ZFPM2[13].
  • XY gonadal dysgenesis's genetic association is recorded as MAP3K1[14].
  • XY gonadal dysgenesis's genetic association is recorded as SRY[15].
  • XY gonadal dysgenesis's genetic association is recorded as NR0B1[16].
  • XY gonadal dysgenesis's genetic association is recorded as DHH[17].
  • XY gonadal dysgenesis's genetic association is recorded as CBX2[18].
  • XY gonadal dysgenesis's genetic association is recorded as NR5A1[19].
  • XY gonadal dysgenesis's exact match is recorded as http://purl.obolibrary.org/obo/DOID_14448[20].
  • XY gonadal dysgenesis's exact match is recorded as http://identifiers.org/doid/DOID:14448[21].
  • XY gonadal dysgenesis's exact match is recorded as http://purl.obolibrary.org/obo/HP_0000037[22].
  • XY gonadal dysgenesis's on focus list of Wikimedia project is recorded as WikiProject Medicine[23].

Why It Matters

XY gonadal dysgenesis has Wikipedia articles in 17 language editions, a strong signal of global cultural recognition.[2] It is known by 12 alternative names across languages and contexts.[24]

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [3] . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . wikidata.org.
  4. [6] . wikidata.org.
  5. [7] . Disease Ontology. Retrieved . wikidata.org.
  6. [8] . wikidata.org.
  7. [9] . wikidata.org.
  8. [10] . Disease Ontology. Retrieved . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . wikidata.org.
  11. [13] . Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. wikidata.org.
  12. [14] . Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. wikidata.org.
  13. [15] . The sex-determining region of the human Y chromosome encodes a finger protein.. wikidata.org.
  14. [16] . A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. wikidata.org.
  15. [17] . A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. wikidata.org.
  16. [18] . Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. wikidata.org.
  17. [19] . A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. wikidata.org.
  18. [20] . Disease Ontology. Retrieved . wikidata.org.
  19. [21] . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  20. [22] . Human Phenotype Ontology release 2018-03-08. Retrieved . wikidata.org.
  21. [23] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikidata sitelinks. wikidata.org.
  2. [24] . Wikidata aliases. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). XY gonadal dysgenesis. Retrieved May 3, 2026, from https://4ort.xyz/entity/xy-gonadal-dysgenesis
MLA “XY gonadal dysgenesis.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/xy-gonadal-dysgenesis.
BibTeX @misc{4ortxyz_xy-gonadal-dysgenesis_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{XY gonadal dysgenesis}}, year = {2026}, url = {https://4ort.xyz/entity/xy-gonadal-dysgenesis}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): XY gonadal dysgenesis — https://4ort.xyz/entity/xy-gonadal-dysgenesis (retrieved 2026-05-03)

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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 24d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of gonadal dysgenesis, disorder of sex development, 46,XY, disease
    Named after
    Health specialty medical genetics
    Genetic association ZFPM2, MAP3K1, SRY +4
    + 7 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
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