{"topic_id":"companion_breed_health_siamese_omia4255_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_siamese_omia4255_cat\ncategory: companion-breed-health\ntitle: \"Siamese — Hemimelia, radial (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/siamese_omia4255_4255.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 161\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_siamese_omia4255_cat/01_companion_breed_health_siamese_omia4255_cat.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: \"Siamese — Hemimelia, radial (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002225/9685/\"\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# Siamese — Hemimelia, radial (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: Siamese (Cat)`\n- `Disorder: `\n- `Mode of inheritance: Probably autosomal recessive`\n- `Clin feat: Bilgen et al. (2023): Radiographs of the female [Siamese] kitten revealed bilateral absence of the radii and bowing of the humeri, while the male kitten showed a dysplastic right radius. Echocardiography suggested the female kitten had restrictive cardiomyopathy with a positive left atrial-to-aortic root ratio (LA:Ao = 1.83 cm), whereas hypertrophic cardiomyopathy was more likely in the sire, showing diastolic dysfunction using tissue Doppler imaging (59.06 cm/s).`\n- `Defect: yes`\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- OMIA molecular-genetics note: Bilgen et al. (2023) \"Clinical and genetic analyses were conducted on a Siamese cat family (n = 18), including two siblings with RH [radial hemimelia]. ... Whole genome sequencing was completed on the two cases and the parents. Genomic data were compared with the 99 Lives Cat Genome data set of 420 additional domestic cats with whole genome and whole exome sequencing data. Variants were considered…\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- 2021. Whole-genome sequencing analysis of a cat family with radial hemimelia. Proceedings of the 38th International Society for Animal Genetics Conference, July 26-30. — OMIA Phene_Article / Article\n- 2009. Bilateral radial hemimelia, polydactyly and cardiomegaly in two cats. Vet Comp Orthop Traumatol — PubMed:PMID19876522 | DOI:10.3415/VCOT-08-12-0124 — OMIA Phene_Article / Article\n- 2023. Cardiomyopathy associated 5 (CMYA5) implicated as a genetic risk factor for radial hemimelia in Siamese cats. J Feline Med Surg — PubMed:PMID37791865 | DOI:10.1177/1098612X231193557 — OMIA Phene_Article / Article\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 — Siamese — Hemimelia, radial (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Siamese — Hemimelia, radial (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/19876522/","retrieved":"","ref":"PMID 19876522","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":629,"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."}