--- license: permission_granted topic_id: companion_breed_health_samoyed_omia2997_dog category: companion-breed-health title: "Samoyed — Oculoskeletal dysplasia 2 (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/samoyed_omia2997_2997.txt date_parsed: 2026-08-02 tokens_estimated: 425 verification: method: substring_match claims: 9 passed: 9 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_samoyed_omia2997_dog/01_companion_breed_health_samoyed_omia2997_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: "Samoyed — Oculoskeletal dysplasia 2 (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001523/9615/" 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
Samoyed — Oculoskeletal dysplasia 2 (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: Samoyed (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: Oculoskeletal dysplasia 2 (osd2, drd2) is a collagen disorder characterized by short-limbed dwarfism, particularly of the forelimbs, and vitreous dysplasia with associated retinal detachment and cataracts. A genetic test is available.brSee also a href=https://www.omia.org/OMIA001522/9615/OMIA:001522-9615/a : Oculoskeletal dysplasia 1Clin feat: Signs may be noticeable as early as 4 to 6 weeks of age (Goldstein et al., 2010). Affected dogs have short-limbed dwarfism and vitreous dysplasia. Associated ophthalmic lesions include retinal detachment and cataracts. The forelimbs are most noticeably affected, particularly the short radius and ulna, which subsequently develop curvature with varus/valgus deformities (Meyers et al., 1983). In pups, the dome of the cranium is often pronounced and there is moderate excessive exotropic strabismus. Some, but not all, carriers have vitreal stands, focal retinal folds or plaques of retinal dysplasia (Goldstein et al., 2010).Defect: yesPathology: There is a range of ocular defects, but the most consistent findings are cortical equatorial cataracts and vitreal liquefaction (Goldstein et al, 2010).Control: Parents and siblings of affected dogs should be tested. Breeding of affected or carrier dogs is not recommended.Gen test: There is a test available to detect the causative mutation. Dogs cannot be reliably identified by clinical signs alone, so dogs suspected to have oculoskeletal dysplasia should be tested.
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 3539588 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: The causative mutation is a 1,267 bp deletion that eliminates part of the 5’UTR, all of exon 1 and part of intron 1, which likely causes mRNA degradation and absence of COL9A2 protein (Goldstein et al., 2010).
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.
- 2010. COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. Mamm Genome — PubMed:PMID20686772 | DOI:10.1007/s00335-010-9276-4 — OMIA Phene_Article / Article
- 2000. Cloning and expression of type II collagen mRNA: evaluation as a candidate for canine oculo-skeletal dysplasia. Gene — PubMed:PMID11024291 | DOI:10.1016/s0378-1119(00)00324-3 — OMIA Phene_Article / Article
- 1983. Short-limbed dwarfism and ocular defects in the Samoyed dog. J Am Vet Med Assoc — PubMed:PMID12002589 — OMIA Phene_Article / Article
- 2002. Cloning and characterization of opticin cDNA: evaluation as a candidate for canine oculo-skeletal dysplasia. Gene — PubMed:PMID11814684 | DOI:10.1016/s0378-1119(01)00842-3 — OMIA Phene_Article / Article
- 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article
- 1995. Oculoskeletal dysplasias in Samoyed and Labrador retriever dogs: nonallelic disorders akin to Stickler-like syndromes affecting humans. 2nd international DOGMAP meeting, Cambridge — OMIA Phene_Article / Article
- 2020. Focal/multifocal and geographic retinal dysplasia in the dog-In vivo retinal microanatomy analyses. Vet Ophthalmol — PubMed:PMID31746146 | DOI:10.1111/vop.12725 — OMIA Phene_Article / Article
- 2023. Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open — PubMed:PMID38028226 | DOI:10.1002/vro2.77 — OMIA Phene_Article / Article
- 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — 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:614284 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:120260 (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."