{"topic_id":"companion_breed_health_beauceron_omia5040_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_beauceron_omia5040_dog\ncategory: companion-breed-health\ntitle: \"Beauceron — Deafness, CDH23-related (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/beauceron_omia5040_5040.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 179\nverification:\n  method: substring_match\n  claims: 7\n  passed: 7\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_beauceron_omia5040_dog/01_companion_breed_health_beauceron_omia5040_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: \"Beauceron — Deafness, CDH23-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002584/9615/\"\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# Beauceron — Deafness, CDH23-related (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: Beauceron (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Affected puppies exhibit bilateral sensineural deafness from birth, which can be assessed by either behavioral tests or brainstem auditory evoked response (BAER) examinations. No other signs were noted by the owners or attending veterinarians (Abitbol et al. 2022).`\n- `Defect: yes`\n- `Prevalence: Abitbol et al. (2022): By genotyping a cohort of 90 control Beauceron dogs sampled in France, we found a 3.3% carrier frequency.`\n- `Gen test: Abitbol et al. (2022): The CDH23:c.[700CT] allele is easily detectable with a genetic test to avoid at-risk matings.`\n## Associated gene(s)\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- Gene: Entrez Gene ID 389415032 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: \"By combining homozygosity mapping with whole genome sequencing and variant filtering in affected dogs ... [Abitbol et al. (2022)] identified a CDH23:c.700C>T variant. The variant, located in the CHD23 (cadherin related 23) gene, was predicted to induce a CDH23:p.(Pro234Ser) change in the protein. Proline-234 of CDH23 protein is highly conserved across different vertebrate species. In silico tools…\n\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- 2023. A CDH23 missense variant in Beauceron dogs with non-syndromic deafness. Anim Genet — PubMed:PMID36308003 | DOI:10.1111/age.13273 — OMIA Phene_Article / Article\n- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\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- OMIM:605516 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:601386 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:601067 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\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 — Beauceron — Deafness, CDH23-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Beauceron — Deafness, CDH23-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/36308003/","retrieved":"","ref":"PMID 36308003","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":679,"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."}