{"topic_id":"companion_breed_health_cocker_spaniel_omia4217_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_cocker_spaniel_omia4217_dog\ncategory: companion-breed-health\ntitle: \"Cocker Spaniel — Bernard-Soulier syndrome, type C (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/cocker_spaniel_omia4217_4217.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 187\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_cocker_spaniel_omia4217_dog/01_companion_breed_health_cocker_spaniel_omia4217_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: \"Cocker Spaniel — Bernard-Soulier syndrome, type C (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002207/9615/\"\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# Cocker Spaniel — Bernard-Soulier syndrome, type C (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: Cocker Spaniel (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Probably autosomal recessive`\n- `Clin feat: Gentilini et al. (2019): The affected dogs showed a platelet adhesion defect characterized by macrothrombocytopenia with variable platelet counts resembling human Bernard-Soulier syndrome (BSS). Furthermore, the lack of functional GPIb-IX-V was demonstrated by immunocytochemistry.`\n- `Defect: yes`\n- `Prevalence: Gentilini et al. (2019): the prevalence of the variant allele [in a sample of Cocker Spaniels from Switzerland and Italy] was 4.6% with a distribution of genotypes frequencies of 91.8% of homozygous wild-type, 7.1% of heterozygous and 1% of homozygous variant.`\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 388304690 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Gentilini et al. (2019): \"Whole genome sequencing of one affected dog and visual inspection of the [comparative] candidate genes identified a deletion in the glycoprotein IX platelet (GP9) gene. The GP9 gene encodes a subunit of a platelet surface membrane glycoprotein complex; this functions as a receptor for von Willebrand factor, which initiates the maintenance of hemostasis after injury. Varia…\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- 2019. A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome. PLoS One — PubMed:PMID31484196 | DOI:10.1371/journal.pone.0220625 — OMIA Phene_Article / Article\n- 2023. Point-of-care platelet function testing results in a dog with Bernard-Soulier syndrome. Vet Clin Pathol — PubMed:PMID37438861 | DOI:10.1111/vcp.13266 — 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:231200 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:173515 (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 — Cocker Spaniel — Bernard-Soulier syndrome, type C (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Cocker Spaniel — Bernard-Soulier syndrome, type C (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/31484196/","retrieved":"","ref":"PMID 31484196","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":685,"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."}