{"topic_id":"companion_breed_health_belgian_shepherd_dog_omia4314_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_belgian_shepherd_dog_omia4314_dog\ncategory: companion-breed-health\ntitle: \"Belgian Shepherd Dog — Cardiomyopathy and juvenile mortality (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/belgian_shepherd_dog_omia4314_4314.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 233\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_belgian_shepherd_dog_omia4314_dog/01_companion_breed_health_belgian_shepherd_dog_omia4314_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: \"Belgian Shepherd Dog — Cardiomyopathy and juvenile mortality (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002256/9615/\"\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# Belgian Shepherd Dog — Cardiomyopathy and juvenile mortality (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: Belgian Shepherd Dog (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: The clinical phenotype is unspecific and variable. In the study of Gurtner et al. (2020), three affected puppies were studied, which all died at 8 weeks of age. A few days prior to death they showed various clinical signs such as vomiting and dyspnea (n = 2) or lethargy and muscle twitching (n = 1) (Gurtner et al. 2020).`\n- `Defect: yes`\n- `Pathology: Cardiomyocytes of affected puppies were swollen and pale, and the sarcoplasm around the nucleus was dispersed by finely granular material (Gurtner et al. 2020). The authors concluded: The cause of disease and death were likely due to the degenerative changes in the heart, leading to myocardial failure.`\n- `Prevalence: Gurtner et al. (2020): The carrier frequency was 27.2% in the tested Belgian Shepherd dogs`\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 388252268 (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- 2020. YARS2 missense variant in Belgian Shepherd dogs with cardiomyopathy and juvenile mortality. Genes (Basel) — PubMed:PMID32183361 | DOI:10.3390/genes11030313 — OMIA Phene_Article / Article\n- 2023. Recessive aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models. Front Neurosci — PubMed:PMID37274208 | DOI:10.3389/fnins.2023.1182874 — 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:613561 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:610957 (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 — Belgian Shepherd Dog — Cardiomyopathy and juvenile mortality (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Belgian Shepherd Dog — Cardiomyopathy and juvenile mortality (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/32183361/","retrieved":"","ref":"PMID 32183361","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":664,"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."}