{"topic_id":"companion_breed_health_dogo_argentino_omia4767_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_dogo_argentino_omia4767_dog\ncategory: companion-breed-health\ntitle: \"Dogo Argentino — Dwarfism, PRKG2-related (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/dogo_argentino_omia4767_4767.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 248\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_dogo_argentino_omia4767_dog/01_companion_breed_health_dogo_argentino_omia4767_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: \"Dogo Argentino — Dwarfism, PRKG2-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001485/9615/\"\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# Dogo Argentino — Dwarfism, PRKG2-related (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: Dogo Argentino (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Rudd Garces et al. (2021) investigated a family of nine Dogo Argentino dogs, in which two dogs were affected by disproportionate dwarfism. Radiographs of an affected dog revealed a decreased level of endochondral ossification in its growth plates, and a premature closure of the distal ulnar physes.brMäkeläinen et al. (2025): affected [Dalmation] dogs had short legs and showed clear gait abnormalities. The front legs were curved with an outward-angled elbow joint and an outward rotation of the paw. Due to the severity of the condition, the affected dogs were euthanized ....`\n- `Defect: yes`\n- `Pathology: Mäkeläinen et al. (2025): Microscopically, the growth plates of the distal ulna and radius [of affected Dalmation dogs] were irregular showing disorganized areas of resting, proliferative and hypertrophic zones ... .`\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 388253078 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Rudd Garces et al. (2021): \"The genome of an affected dog was sequenced and compared to 795 control genomes. The prioritization of private variants revealed a clear top candidate variant for the observed dwarfism. This variant, PRKG2:XM_022413533.1:c.1634+1G&gt;T [omia.variant:1373], affects the splice donor site and is therefore predicted to disrupt the function of the PKRG2 gene .... \"<br>Mäkelä…\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. PRKG2 splice site variant in Dogo Argentino dogs with disproportionate dwarfism. Genes (Basel) — PubMed:PMID34680883 | DOI:10.3390/genes12101489 — OMIA Phene_Article / Article\n- 2025. A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia. PLoS One — PubMed:PMID41296694 | DOI:10.1371/journal.pone.0322107 — 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:601591 (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 — Dogo Argentino — Dwarfism, PRKG2-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Dogo Argentino — Dwarfism, PRKG2-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/34680883/","retrieved":"","ref":"PMID 34680883","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":717,"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."}