{"topic_id":"companion_breed_health_yorkshire_terrier_omia3662_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_yorkshire_terrier_omia3662_dog\ncategory: companion-breed-health\ntitle: \"Yorkshire Terrier — XY difference of sexual development, generic (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/yorkshire_terrier_omia3662_3662.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 97\nverification:\n  method: substring_match\n  claims: 4\n  passed: 4\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_yorkshire_terrier_omia3662_dog/01_companion_breed_health_yorkshire_terrier_omia3662_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Yorkshire Terrier — XY difference of sexual development, generic (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001601/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Yorkshire Terrier — XY difference of sexual development, generic (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Yorkshire Terrier (Dog)`\n- `Disorder: `\n- `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].`\n- `Defect: yes`\n## Evidence (references)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n## Evidence (references)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n## Evidence (references)\nDerived 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.\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n## Evidence (references)\nDerived 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.\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n## Evidence (references)\nDerived 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.\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Yorkshire Terrier — XY difference of sexual development, generic (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Yorkshire Terrier — XY difference of sexual development, generic (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/21893969/","retrieved":"","ref":"PMID 21893969","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":2410,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}