{"topic_id":"companion_breed_health_shetland_pony_horse_omia3870_horse","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_shetland_pony_horse_omia3870_horse\ncategory: companion-breed-health\ntitle: \"Shetland Pony (Horse) — Skeletal atavism (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/shetland_pony_horse_omia3870_3870.txt\ndate_parsed: 2026-08-23\ntokens_estimated: 171\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-23\nrecovered: false\npath: companion-breed-health/companion_breed_health_shetland_pony_horse_omia3870_horse/01_companion_breed_health_shetland_pony_horse_omia3870_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: \"Shetland Pony (Horse) — Skeletal atavism (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002013/9796/\"\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# Shetland Pony (Horse) — Skeletal atavism (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: Shetland Pony (Horse)`\n- `Disorder: `\n- `Mode of inheritance: Recessive`\n- `Clin feat: As reported by Rafati et al. (2016), Skeletal atavism in Shetland ponies is a heritable disorder characterized by abnormal growth of the ulna and fibula that extend the carpal and tarsal joints, respectively. This causes abnormal skeletal structure, impaired movements, and affected foals are usually euthanized.`\n- `Defect: yes`\n- `Prevalence: When testing a random set of 94 Shetland ponies in Sweden, the allele frequencies of disease associated deletions Del1 and Del2 were 0.0479 and 0.0106, respectively (Rafati et al., 2016)`\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 389001865 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: The deletions mentioned in the Mapping section were named Del-1 and Del-2 (Rafati et al., 2016), and the authors reported that \"One of the identified deletions removes the entire coding region of the short stature homeobox (SHOX) gene [Del-1] and both deletions remove parts of the cytokine receptor-like factor 2 (CRLF2) gene located downstream of SHOX.\" The same authors then \"sequenced bacterial a…\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- 1958. A cause of malformation of the limbs of Shetland ponies with a note on its phylogenic significance. British Veterinary Journal — OMIA Phene_Article / Article\n- 1995. Limb deviation in a Shetland pony foal. Equine Practice — OMIA Phene_Article / Article\n- 2004. Skeletal atavism in a miniature horse. Vet Radiol Ultrasound — PubMed:PMID15373256 | DOI:10.1111/j.1740-8261.2004.04060.x — OMIA Phene_Article / Article\n- 1970. A hereditary anomaly in Shetland ponies. Netherlands Journal of Veterinary Science — OMIA Phene_Article / Article\n- 1987. Investigation into the heredity of congenital lateral patellar (sub)luxation in the Shetland pony. Vet Q — PubMed:PMID3564314 | DOI:10.1080/01652176.1987.9694070 — OMIA Phene_Article / Article\n- 1995. Atavisms and atavistic mutations. Nat Genet — PubMed:PMID7663504 | DOI:10.1038/ng0695-126 — OMIA Phene_Article / Article\n- 2016. Large deletions at the SHOX locus in the pseudoautosomal region are associated with skeletal atavism in Shetland ponies. G3 (Bethesda) — PubMed:PMID27207956 | DOI:10.1534/g3.116.029645 — OMIA Phene_Article / Article\n- 1985. Complete ulnas and fibulas in a pony foal. J Am Vet Med Assoc — PubMed:PMID3997641 — 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:312865 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:249700 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:127300 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:300582 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-breed-health — Shetland Pony (Horse) — Skeletal atavism (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Shetland Pony (Horse) — Skeletal atavism (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/15373256/","retrieved":"","ref":"PMID 15373256","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":869,"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."}