{"topic_id":"companion_species_health_haemophilia_b_cat","category":"companion-species-health","context":"---\nlicense: permission_granted\ntopic_id: companion_species_health_haemophilia_b_cat\ncategory: companion-species-health\ntitle: \"Cat (Felis catus) — Haemophilia B (hereditary; OMIA-verified species predisposition)\"\nlang: en\nsource: \"OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump.\"\nsource_file: pdf-raw/species-health/cat_haemophilia_b_53.txt\ndate_parsed: 2026-08-24\ntokens_estimated: 80\nverification:\n  method: substring_match\n  claims: 3\n  passed: 3\n  date: 2026-08-24\nrecovered: false\npath: companion-species-health/companion_species_health_haemophilia_b_cat/01_companion_species_health_haemophilia_b_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: \"Cat (Felis catus) — Haemophilia B (hereditary; OMIA-verified species predisposition)\"\n  url: \"https://omia.org/OMIA000438/9685/\"\n  retrieved: \"2026-08-24\"\n  ref: \"OMIA species-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 (species-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# Cat (Felis catus) — Haemophilia B (hereditary; OMIA-verified species predisposition)\n\nSource: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to `source_file`; every claim below is a C1 byte-substring of it.\n\n## Claims\n\n- `Species: Cat (Felis catus)`\n- `Disorder: Haemophilia B`\n- `Summary: See also ' OMIA:001526-9685 : Factors IX and XII, combined deficiency of in Felis catus'`\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 493973 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: By sequencing an obvious candidate gene (F9), Goree et al. (2005) reported different causative mutations in two affected cats: \"Affected cat 1 had a single nucleotide change in exon 8 at the 1st nucleotide position of the codon encoding an arginine (CGA to TGA) at amino acid position 338 [omia.variant:310]. This mutation would be predicted to result in the appearance of a premature stop codon in t…\n\n## Causal variant(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- Variant: chromosome 6; nt change NM_001192797.1:c.1222C>T; protein NP_001179726.1:p.(H408T); dbSNP rs5334475098; pathogenicity class 1 — OMIA Variant / Variant_Phene\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- 1993. Factor IX deficiency (hemophilia B) in a family of British  Shorthair cats. J Am Vet Med Assoc — PubMed:PMID8307821 — OMIA Phene_Article / Article\n- 2005. Characterization of the mutations causing hemophilia B in 2 domestic cats. J Vet Intern Med — PubMed:PMID15822564 | DOI:10.1892/0891-6640(2005)19<200:cotmch>2.0.co;2 — OMIA Phene_Article / Article\n- 1988. The effect of danazol treatment on factor IX deficiency in cats. Vet Clin Pathol — PubMed:PMID15162324 | DOI:10.1111/j.1939-165x.1988.tb00496.x — OMIA Phene_Article / Article\n- 1988. Inherited coagulation disorders. Vet Clin North Am Small Anim Pract — PubMed:PMID3282382 | DOI:10.1016/s0195-5616(88)50018-9 — OMIA Phene_Article / Article\n- 2024. Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci — PubMed:PMID39703406 | DOI:10.3389/fvets.2024.1497817 — 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:306900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:300746 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-species-health — Cat (Felis catus) — Haemophilia B (hereditary; OMIA-verified species predisposition)"],"source":{"authority":"companion-species-health","title":"Cat (Felis catus) — Haemophilia B (hereditary; OMIA-verified species predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/8307821/","retrieved":"","ref":"PMID 8307821","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":756,"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."}