{"topic_id":"companion_breed_health_shetland_sheepdog_omia4816_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_shetland_sheepdog_omia4816_dog\ncategory: companion-breed-health\ntitle: \"Shetland Sheepdog — Bardet-Biedl syndrome 2 (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/shetland_sheepdog_omia4816_4816.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 147\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_shetland_sheepdog_omia4816_dog/01_companion_breed_health_shetland_sheepdog_omia4816_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: \"Shetland Sheepdog — Bardet-Biedl syndrome 2 (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002484/9615/\"\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# Shetland Sheepdog — Bardet-Biedl syndrome 2 (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 Sheepdog (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Probably autosomal recessive`\n- `Summary: Hitti-Malin et al. (2021) elucidate the causal variant for a distinct form of [progressive retinal atrophy] PRA in the Shetland sheepdog, using a whole-genome sequencing approach.`\n- `Clin feat: Hitti-Malin et al. (2021): In addition to PRA, additional clinical features in homozygous dogs support the discovery of a novel syndromic PRA 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 388246182 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Hitti-Malin et al. (2021): \"Filtering variants from a single PRA-affected Shetland sheepdog genome compared to 176 genomes of other breeds identified a single nucleotide variant in exon 11 of the Bardet-Biedl syndrome-2 gene (BBS2) (c.1222G&gt;C; p.Ala408Pro). Genotyping 1386 canids of 155 dog breeds, 15 cross breeds and 8 wolves indicated the c.1222G&gt;C variant was only segregated within Shetla…\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. A missense variant in the Bardet-Biedl syndrome 2 gene (BBS2) leads to a novel syndromic retinal degeneration in the Shetland Sheepdog. Genes (Basel) — PubMed:PMID34828377 | DOI:10.3390/genes12111771 — OMIA Phene_Article / Article\n- 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — 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:615981 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:606151 (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 — Shetland Sheepdog — Bardet-Biedl syndrome 2 (hereditary; OMIA-verified breed predisposition) (retrieved 2026-08-22)"],"source":{"authority":"companion-breed-health","title":"Shetland Sheepdog — Bardet-Biedl syndrome 2 (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/34828377/","retrieved":"2026-08-22","ref":"PMID 34828377","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":540,"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."}