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Yorkshire Terrier — XY difference of sexual development, generic (hereditary; OMIA-verified breed predisposition)

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--- license: permission_granted topic_id: companion_breed_health_yorkshire_terrier_omia3662_dog category: companion-breed-health title: "Yorkshire Terrier — XY difference of sexual development, generic (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/yorkshire_terrier_omia3662_3662.txt date_parsed: 2026-08-02 tokens_estimated: 97 verification: method: substring_match claims: 4 passed: 4 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_yorkshire_terrier_omia3662_dog/01_companion_breed_health_yorkshire_terrier_omia3662_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Yorkshire Terrier — XY difference of sexual development, generic (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001601/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Yorkshire Terrier — XY difference of sexual development, generic (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

  • Breed: Yorkshire Terrier (Dog)
  • Disorder:
  • Summary: Information relating to differences in sexual development due to variants in the HSD17B3 previously listed here have been moved to OMIA:002777-9615 : XY difference of sexual development, HSD17B3-related in Canis lupus familiaris [28/09/2023].
  • Defect: yes

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.

  • 2012. Hypospadias in a male (78,XY; SRY-positive) dog and sex reversal female (78,XX; SRY-negative) dogs: clinical, histological and genetic studies.. Sex Dev — PubMed:PMID21893969 | DOI:10.1159/000330921 — OMIA Phene_Article / Article
  • 2013. Disorder of sexual development in a Yorkshire terrier (78, XY; SRY-positive).. J Appl Genet — PubMed:PMID23378246 | DOI:10.1007/s13353-013-0137-1 — OMIA Phene_Article / Article
  • 2019. Polymorphisms of MAMLD1, SRD5A2, and AR candidate genes in seven dogs (78,XY; SRY-Positive) affected by hypospadias or cryptorchidism.. Sex Dev — PubMed:PMID31055572 | DOI:10.1159/000500219 — OMIA Phene_Article / Article
  • 2019. Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3.. Anim Genet — PubMed:PMID31476086 | DOI:10.1111/age.12850 — OMIA Phene_Article / Article
  • 2021. Serum anti-Müllerian hormone concentration as a diagnostic tool to identify testicular tissue in canine disorders of sexual development.. Domest Anim Endocrinol — PubMed:PMID34509739 | DOI:10.1016/j.domaniend.2021.106654 — OMIA Phene_Article / Article
  • 2022. Copy number variation of the SRY gene showed an association with disorders of sex development in Yorkshire Terrier dogs.. Anim Genet — PubMed:PMID34664728 | DOI:10.1111/age.13147 — OMIA Phene_Article / Article
  • 2022. Whole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs.. Genomics — PubMed:PMID35597501 | DOI:10.1016/j.ygeno.2022.110389 — OMIA Phene_Article / Article
  • 2020. Demetylation of the sex-determining region Y gene promoter and incidence of disorder of sex development in cloned dog males.. J Physiol Pharmacol — PubMed:PMID32991314 | DOI:10.26402/jpp.2020.3.05 — OMIA Phene_Article / Article
  • 2025. XY disorder of sexual development in a dog: a case study by histopathology, genotyping and karyotyping.. Vet Res Commun — PubMed:PMID39903346 | DOI:10.1007/s11259-025-10664-5 — OMIA Phene_Article / Article

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.

  • 2012. Hypospadias in a male (78,XY; SRY-positive) dog and sex reversal female (78,XX; SRY-negative) dogs: clinical, histological and genetic studies. Sex Dev — PubMed:PMID21893969 | DOI:10.1159/000330921 — OMIA Phene_Article / Article
  • 2013. Disorder of sexual development in a Yorkshire terrier (78, XY; SRY-positive). J Appl Genet — PubMed:PMID23378246 | DOI:10.1007/s13353-013-0137-1 — OMIA Phene_Article / Article
  • 2019. Polymorphisms of MAMLD1, SRD5A2, and AR candidate genes in seven dogs (78,XY; SRY-Positive) affected by hypospadias or cryptorchidism. Sex Dev — PubMed:PMID31055572 | DOI:10.1159/000500219 — OMIA Phene_Article / Article
  • 2019. Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Anim Genet — PubMed:PMID31476086 | DOI:10.1111/age.12850 — OMIA Phene_Article / Article
  • 2021. Serum anti-Müllerian hormone concentration as a diagnostic tool to identify testicular tissue in canine disorders of sexual development. Domest Anim Endocrinol — PubMed:PMID34509739 | DOI:10.1016/j.domaniend.2021.106654 — OMIA Phene_Article / Article
  • 2022. Copy number variation of the SRY gene showed an association with disorders of sex development in Yorkshire Terrier dogs. Anim Genet — PubMed:PMID34664728 | DOI:10.1111/age.13147 — OMIA Phene_Article / Article
  • 2022. Whole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs. Genomics — PubMed:PMID35597501 | DOI:10.1016/j.ygeno.2022.110389 — OMIA Phene_Article / Article
  • 2020. Demetylation of the sex-determining region Y gene promoter and incidence of disorder of sex development in cloned dog males. J Physiol Pharmacol — PubMed:PMID32991314 | DOI:10.26402/jpp.2020.3.05 — OMIA Phene_Article / Article
  • 2025. XY disorder of sexual development in a dog: a case study by histopathology, genotyping and karyotyping. Vet Res Commun — PubMed:PMID39903346 | DOI:10.1007/s11259-025-10664-5 — OMIA Phene_Article / Article

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • 2012. Hypospadias in a male (78,XY; SRY-positive) dog and sex reversal female (78,XX; SRY-negative) dogs: clinical, histological and genetic studies. Sex Dev — PubMed:PMID21893969 | DOI:10.1159/000330921 — OMIA Phene_Article / Article
  • 2013. Disorder of sexual development in a Yorkshire terrier (78, XY; SRY-positive). J Appl Genet — PubMed:PMID23378246 | DOI:10.1007/s13353-013-0137-1 — OMIA Phene_Article / Article
  • 2019. Polymorphisms of MAMLD1, SRD5A2, and AR candidate genes in seven dogs (78,XY; SRY-Positive) affected by hypospadias or cryptorchidism. Sex Dev — PubMed:PMID31055572 | DOI:10.1159/000500219 — OMIA Phene_Article / Article
  • 2019. Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Anim Genet — PubMed:PMID31476086 | DOI:10.1111/age.12850 — OMIA Phene_Article / Article
  • 2021. Serum anti-Müllerian hormone concentration as a diagnostic tool to identify testicular tissue in canine disorders of sexual development. Domest Anim Endocrinol — PubMed:PMID34509739 | DOI:10.1016/j.domaniend.2021.106654 — OMIA Phene_Article / Article
  • 2022. Copy number variation of the SRY gene showed an association with disorders of sex development in Yorkshire Terrier dogs. Anim Genet — PubMed:PMID34664728 | DOI:10.1111/age.13147 — OMIA Phene_Article / Article
  • 2022. Whole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs. Genomics — PubMed:PMID35597501 | DOI:10.1016/j.ygeno.2022.110389 — OMIA Phene_Article / Article
  • 2020. Demetylation of the sex-determining region Y gene promoter and incidence of disorder of sex development in cloned dog males. J Physiol Pharmacol — PubMed:PMID32991314 | DOI:10.26402/jpp.2020.3.05 — OMIA Phene_Article / Article
  • 2025. XY disorder of sexual development in a dog: a case study by histopathology, genotyping and karyotyping. Vet Res Commun — PubMed:PMID39903346 | DOI:10.1007/s11259-025-10664-5 — OMIA Phene_Article / Article

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • 2012. Hypospadias in a male (78,XY; SRY-positive) dog and sex reversal female (78,XX; SRY-negative) dogs: clinical, histological and genetic studies. Sex Dev — PubMed:PMID21893969 | DOI:10.1159/000330921 — OMIA Phene_Article / Article
  • 2013. Disorder of sexual development in a Yorkshire terrier (78, XY; SRY-positive). J Appl Genet — PubMed:PMID23378246 | DOI:10.1007/s13353-013-0137-1 — OMIA Phene_Article / Article
  • 2019. Polymorphisms of MAMLD1, SRD5A2, and AR candidate genes in seven dogs (78,XY; SRY-Positive) affected by hypospadias or cryptorchidism. Sex Dev — PubMed:PMID31055572 | DOI:10.1159/000500219 — OMIA Phene_Article / Article
  • 2019. Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Anim Genet — PubMed:PMID31476086 | DOI:10.1111/age.12850 — OMIA Phene_Article / Article
  • 2021. Serum anti-Müllerian hormone concentration as a diagnostic tool to identify testicular tissue in canine disorders of sexual development. Domest Anim Endocrinol — PubMed:PMID34509739 | DOI:10.1016/j.domaniend.2021.106654 — OMIA Phene_Article / Article
  • 2022. Copy number variation of the SRY gene showed an association with disorders of sex development in Yorkshire Terrier dogs. Anim Genet — PubMed:PMID34664728 | DOI:10.1111/age.13147 — OMIA Phene_Article / Article
  • 2022. Whole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs. Genomics — PubMed:PMID35597501 | DOI:10.1016/j.ygeno.2022.110389 — OMIA Phene_Article / Article
  • 2020. Demetylation of the sex-determining region Y gene promoter and incidence of disorder of sex development in cloned dog males. J Physiol Pharmacol — PubMed:PMID32991314 | DOI:10.26402/jpp.2020.3.05 — OMIA Phene_Article / Article
  • 2025. XY disorder of sexual development in a dog: a case study by histopathology, genotyping and karyotyping. Vet Res Commun — PubMed:PMID39903346 | DOI:10.1007/s11259-025-10664-5 — OMIA Phene_Article / Article

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • 2012. Hypospadias in a male (78,XY; SRY-positive) dog and sex reversal female (78,XX; SRY-negative) dogs: clinical, histological and genetic studies. Sex Dev — PubMed:PMID21893969 | DOI:10.1159/000330921 — OMIA Phene_Article / Article
  • 2013. Disorder of sexual development in a Yorkshire terrier (78, XY; SRY-positive). J Appl Genet — PubMed:PMID23378246 | DOI:10.1007/s13353-013-0137-1 — OMIA Phene_Article / Article
  • 2019. Polymorphisms of MAMLD1, SRD5A2, and AR candidate genes in seven dogs (78,XY; SRY-Positive) affected by hypospadias or cryptorchidism. Sex Dev — PubMed:PMID31055572 | DOI:10.1159/000500219 — OMIA Phene_Article / Article
  • 2019. Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Anim Genet — PubMed:PMID31476086 | DOI:10.1111/age.12850 — OMIA Phene_Article / Article
  • 2021. Serum anti-Müllerian hormone concentration as a diagnostic tool to identify testicular tissue in canine disorders of sexual development. Domest Anim Endocrinol — PubMed:PMID34509739 | DOI:10.1016/j.domaniend.2021.106654 — OMIA Phene_Article / Article
  • 2022. Copy number variation of the SRY gene showed an association with disorders of sex development in Yorkshire Terrier dogs. Anim Genet — PubMed:PMID34664728 | DOI:10.1111/age.13147 — OMIA Phene_Article / Article
  • 2022. Whole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs. Genomics — PubMed:PMID35597501 | DOI:10.1016/j.ygeno.2022.110389 — OMIA Phene_Article / Article
  • 2020. Demetylation of the sex-determining region Y gene promoter and incidence of disorder of sex development in cloned dog males. J Physiol Pharmacol — PubMed:PMID32991314 | DOI:10.26402/jpp.2020.3.05 — OMIA Phene_Article / Article
  • 2025. XY disorder of sexual development in a dog: a case study by histopathology, genotyping and karyotyping. Vet Res Commun — PubMed:PMID39903346 | DOI:10.1007/s11259-025-10664-5 — OMIA Phene_Article / Article

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."

Sources

Yorkshire Terrier — XY difference of sexual development, generic (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 21893969

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