{"topic_id":"companion_breed_health_miniature_bull_terrier_omia4251_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_miniature_bull_terrier_omia4251_dog\ncategory: companion-breed-health\ntitle: \"Miniature Bull Terrier — Laryngeal paralysis, RAPGEF6-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/miniature_bull_terrier_omia4251_4251.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 200\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_miniature_bull_terrier_omia4251_dog/01_companion_breed_health_miniature_bull_terrier_omia4251_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: \"Miniature Bull Terrier — Laryngeal paralysis, RAPGEF6-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002222/9615/\"\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# Miniature Bull Terrier — Laryngeal paralysis, RAPGEF6-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: Miniature Bull Terrier (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Multifactorial`\n- `Clin feat: Hadji Rasouliha et al. (2019): Laryngeal paralysis (LP) is the inability to abduct the arytenoid cartilages during inspiration, resulting in a partial to complete airway obstruction and consequent respiratory distress. Different forms of LP with varying age of onset exist in dogs. Hereditary early onset forms were reported in several dog breeds. In most breeds, hereditary LP is associated with other neurologic pathologies.`\n- `Defect: yes`\n- `Prevalence: Hadji Rasouliha et al. (2019): The insertion allele was only found in Miniature Bull Terriers and Bull Terriers. It was absent from 1000 control dogs of other dog breeds.`\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 388304610 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\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- 2011. Canine inherited motor and sensory neuropathies: an updated classification in 22 breeds and comparison to Charcot-Marie-Tooth disease. Vet J — PubMed:PMID20638305 | DOI:10.1016/j.tvjl.2010.06.003 — OMIA Phene_Article / Article\n- 2019. A RAPGEF6 variant constitutes a major risk factor for laryngeal paralysis in dogs. PLoS Genet — PubMed:PMID31647804 | DOI:10.1371/journal.pgen.1008416 — 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:610499 (type: gene) — 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 — Miniature Bull Terrier — Laryngeal paralysis, RAPGEF6-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Miniature Bull Terrier — Laryngeal paralysis, RAPGEF6-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/20638305/","retrieved":"","ref":"PMID 20638305","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":616,"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."}