Reverse query / human → dog
xanthinuria type II.
Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.
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.
| Canine model pathway | Evidence | Ortholog | Human anchor | Canine variant · assembly |
|---|---|---|---|---|
| MOCOS → MOCOS OMIA model-of | OMIA-anchored | one_to_one | — | gene-level (no single variant) |
The boundary of this model. These are the characterized pathways,
human genes of this disease that have a canine model in our substrate. A human disease can involve genes
with no canine model yet; enumerating those unmapped pathways as explicit
abstentions lands with the ClinGen / GenCC human gene-disease validity map (Phase 2). Until then we show
what we hold and state that it may be incomplete, rather than imply full coverage.