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Reverse query / human → dog

osteogenesis imperfecta type 2.

Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

Which dogs are a natural model of this human disease. Each row is a distinct gene pathway with a canine model, ranked by evidence strength. We assert the canine disease models the human one (gene-level), never that a dog allele equals a human variant.

1 model pathway 1 OMIA-anchored MONDO:0008147 ↗ OMIM 166210 ↗
Canine model pathway Evidence Ortholog Human anchor Canine variant · assembly
DYAKGE28834 → COL1A2 OMIA model-of OMIA-anchored one_to_one gene-level (no single variant)
The boundary of this model. The rows above are the characterized pathways, human genes of this disease with a canine model in our substrate. We do not hold a GenCC established-gene panel for this specific Mondo id, so the full gene landscape is not enumerated here; we show the canine models we hold and do not imply full coverage.
A candidate model is a computational hypothesis (gene-level model-of), never a confirmed model; confirmation is DNA plus phenotype, in the lab. Canine coordinates are on UU_Cfam_GSD_1.0 and carry their assembly (no cross-assembly comparison without a scored liftover). Sources: OMIA, ClinVar (Landrum 2018), Ensembl Compara orthology, Mondo. Ranked by evidence strength within this human disease.