--- license: permission_granted topic_id: companion_breed_health_old_english_sheepdog_multiocular_defect_dog category: companion-breed-health title: "Old English Sheepdog — Multiocular defect (hereditary; OMIA-verified breed predisposition)" lang: en source: "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." source_file: pdf-raw/breed-health/old_english_sheepdog_multiocular_defect_5788.txt date_parsed: 2026-08-02 tokens_estimated: 116 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_old_english_sheepdog_multiocular_defect_dog/01_companion_breed_health_old_english_sheepdog_multiocular_defect_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Old English Sheepdog — Multiocular defect (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002811/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Old English Sheepdog — Multiocular defect (hereditary; OMIA-verified breed predisposition)
Source: 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.
Claims
Breed: Old English Sheepdog (Dog)Disorder: Multiocular defectMode of inheritance: Autosomal dominantClin feat: Stanbury et al. (2023) Affected dogs typically present with multiple and various ocular abnormalities. These may include cataract, bilateral vitreal degeneration, macrophthalmos, spherophakia, retinal detachment, uveitis and secondary glaucoma.Defect: yes
Associated gene(s)
Derived 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.
- Gene: Entrez Gene ID 398298857 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Stanbury et al. (2023) "carried out whole genome sequencing on an Old English Sheepdog that had been diagnosed with [multiocular defects]. ... Whole genome sequence filtered variants private to the case, shared with another Old English Sheepdog genome and predicted to be deleterious were genotyped in an initial cohort of six Old English Sheepdogs (three affected by multiocular defect and three con…
Evidence (references)
Derived 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.
- 2023. Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1. PLoS One — PubMed:PMID38153936 | DOI:10.1371/journal.pone.0295851 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived 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.
- OMIM:604841 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:120280 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" 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."