{"topic_id":"companion_breed_health_thoroughbred_horse_omia3000_horse","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_thoroughbred_horse_omia3000_horse\ncategory: companion-breed-health\ntitle: \"Thoroughbred (Horse) — Thrombasthenia (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 2026-08-23 from local OMIA database dump.\"\nsource_file: pdf-raw/breed-health/thoroughbred_horse_omia3000_3000.txt\ndate_parsed: 2026-08-23\ntokens_estimated: 160\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-23\nrecovered: false\npath: companion-breed-health/companion_breed_health_thoroughbred_horse_omia3000_horse/01_companion_breed_health_thoroughbred_horse_omia3000_horse.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: \"Thoroughbred (Horse) — Thrombasthenia (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001000/9796/\"\n  retrieved: \"2026-08-23\"\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\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\n# Thoroughbred (Horse) — Thrombasthenia (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: Thoroughbred (Horse)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Defect: yes`\n- `Prevalence: Leite et al. (2020) reported that the two known likely causal variants were completely absent from 1053 DNA samples of clinically healthy Quarter Horse (n = 679) and Warmblood horses (n = 374) in Brazil, consistent with the observation that this disease has not been described in Brazil. Although their samples were of adequate size, the authors rightly concluded that it is not possible to affirm that there are no horses carrying mutated alleles in Brazil.`\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 4119385 (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- 2007. A 10-base-pair deletion in the gene encoding platelet glycoprotein IIb associated with Glanzmann thrombasthenia in a horse. J Vet Intern Med — PubMed:PMID17338169 — OMIA Phene_Article / Article\n- 2006. Characterization of the cDNA Encoding alphaIIb and beta3 in normal horses and two horses with Glanzmann thrombasthenia. Vet Pathol — PubMed:PMID16407493 | DOI:10.1354/vp.43-1-78 — OMIA Phene_Article / Article\n- 2005. Platelet dysfunction (Glanzmann's thrombasthenia) in horses. J Vet Intern Med — PubMed:PMID16355691 — OMIA Phene_Article / Article\n- 2007. Glanzmann thrombasthenia in an Oldenbourg filly. Vet Clin Pathol — PubMed:PMID17523098 — OMIA Phene_Article / Article\n- 2011. Glanzmann thrombasthenia in a 17-year-old Peruvian Paso mare. Vet Clin Pathol — PubMed:PMID21291483 | DOI:10.1111/j.1939-165X.2011.00289.x — OMIA Phene_Article / Article\n- 2019. Prevalence of the Mutations Responsible for Glanzmann Thrombasthenia in Horses in Brazil. Animals (Basel) — PubMed:PMID31766112 | DOI:10.3390/ani9110960 — OMIA Phene_Article / Article\n- 2021. Genetics of equine bleeding disorders. Equine Vet J — PubMed:PMID32463964 | DOI:10.1111/evj.13290 — OMIA Phene_Article / Article\n- 2011. Characterization of the cDNA and genomic DNA sequence encoding for the platelet integrin alpha IIB and beta III in a horse with Glanzmann thrombasthenia. Can J Vet Res — PubMed:PMID22210999 — OMIA Phene_Article / Article\n- 2024. Predicted genetic burden and frequency of phenotype-associated variants in the horse. Sci Rep — PubMed:PMID38600096 | DOI:10.1038/s41598-024-57872-8 — 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:273800 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:607759 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-breed-health — Thoroughbred (Horse) — Thrombasthenia (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Thoroughbred (Horse) — Thrombasthenia (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/17338169/","retrieved":"","ref":"PMID 17338169","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":808,"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."}