{"topic_id":"companion_breed_health_wire_fox_terrier_omia3873_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_wire_fox_terrier_omia3873_dog\ncategory: companion-breed-health\ntitle: \"Wire Fox Terrier — Van den Ende-Gupta syndrome (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/wire_fox_terrier_omia3873_3873.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 106\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_wire_fox_terrier_omia3873_dog/01_companion_breed_health_wire_fox_terrier_omia3873_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: \"Wire Fox Terrier — Van den Ende-Gupta syndrome (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002016/9615/\"\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# Wire Fox Terrier — Van den Ende-Gupta syndrome (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: Wire Fox Terrier (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Hytönen et al. (2016): Wire Fox Terrier breeders contacted us for help in the characterization of an unknown congenital syndrome with severe mandibular prognathia and other skeletal features, mainly severe patellar luxation, in the breed`\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 389414972 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Hytönen et al. (2016) identified a likely causal mutation in Wire Fox Terriers as a \"c.865_866delTC variant [that] results in a frameshift and a premature stop codon, (p.S289Gfs*15), leading to a truncated protein in the first half of the coding region\".\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- 2016. Molecular characterization of three canine models of human rare bone diseases: Caffey, van den Ende-Gupta, and Raine syndromes. PLoS Genet — PubMed:PMID27187611 | DOI:10.1371/journal.pgen.1006037 — OMIA Phene_Article / Article\n- 2016. Canine models of human rare disorders. Rare Dis — PubMed:PMID27803843 | DOI:10.1080/21675511.2016.1241362 — OMIA Phene_Article / Article\n- 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — 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:600920 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:613619 (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 — Wire Fox Terrier — Van den Ende-Gupta syndrome (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Wire Fox Terrier — Van den Ende-Gupta syndrome (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/27187611/","retrieved":"","ref":"PMID 27187611","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":647,"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."}