{"topic_id":"companion_breed_health_chihuahua_bilateral_anterior_amelia_baa_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_chihuahua_bilateral_anterior_amelia_baa_dog\ncategory: companion-breed-health\ntitle: \"Chihuahua — Bilateral anterior amelia (BAA) (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/chihuahua_bilateral_anterior_amelia_baa_6299.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 147\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_chihuahua_bilateral_anterior_amelia_baa_dog/01_companion_breed_health_chihuahua_bilateral_anterior_amelia_baa_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: \"Chihuahua — Bilateral anterior amelia (BAA) (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002297/9615/\"\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# Chihuahua — Bilateral anterior amelia (BAA) (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: Chihuahua (Dog)`\n- `Disorder: Bilateral anterior amelia (BAA)`\n- `Mode of inheritance: Probably autosomal recessive`\n- `Clin feat: Chevallier et al. (2025): All the [13 affected] the dogs ... were Chihuahua-like (n = 6) or mixed-breed Chihuahuas (n = 7) born with no forelimbs ... . They all had a scapula on both sides and presented a residual fragment of the humerus engaged in the glenoid cavity that varied in length ... . All of them were missing all bones distal to the humerus.`\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- Gene: Entrez Gene ID 23857650 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Chevallier et al. (2025): \"Six affected Chihuahuas were whole genome sequenced (WGS) and aligned to the CanFam4 assembly. ... Whole genome sequencing identified three single nucleotide variants [NC_049234.1:g.8891861C &gt; T; NC_049234.1:g.8974204C &gt; T and NC_049234.1:g.9789424G &gt; A] associated with the phenotype. Homozygosity for the variants was observed in 12 out of 13 affected dogs, sugg…\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- 1982. An autosomal recessive form of hemimelia in dogs. Vet Rec — PubMed:PMID7186700 | DOI:10.1136/vr.110.6.128 — OMIA Phene_Article / Article\n- 2025. The RSPO2 gene is associated with bilateral anterior amelia in Chihuahuas. Mamm Genome — PubMed:PMID40131457 | DOI:10.1007/s00335-025-10123-1 — 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:618021 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:610575 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:618022 (type: trait) — 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 — Chihuahua — Bilateral anterior amelia (BAA) (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Chihuahua — Bilateral anterior amelia (BAA) (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/7186700/","retrieved":"","ref":"PMID 7186700","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":665,"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."}