{"topic_id":"companion_breed_health_schnauzer_standard_omia6303_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_schnauzer_standard_omia6303_dog\ncategory: companion-breed-health\ntitle: \"Schnauzer, Standard — Stomatocytosis (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/schnauzer_standard_omia6303_6303.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 178\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_schnauzer_standard_omia6303_dog/01_companion_breed_health_schnauzer_standard_omia6303_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: \"Schnauzer, Standard — Stomatocytosis (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002932/9615/\"\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# Schnauzer, Standard — Stomatocytosis (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: Schnauzer, Standard (Dog)`\n- `Disorder: `\n- `Summary: see also a href=../../../../../../OMIA001178/9615/OMIA:001178-9615/a : Stomatocytosis and gastritis in Canis lupus familiaris (dog) and a href=../../../../../../OMIA000300/9615/OMIA:000300-9615/a : Dwarfism with anaemia in Canis lupus familiaris (dog) for other forms of stomatocytosis.`\n- `Clin feat: Castillo and Williams (2021) report asymptomatic decrease in red blood cells with various morphological changes of the red blood cells (stomatocytes, knizocytes, mild anisocytosis, mild macrocytosis, and mild polychromasia) in a a Beagle and Australian Cattle Dog.`\n- `Defect: yes`\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- OMIA molecular-genetics note: Wallace et al. (2025) conducted whole genome sequencing of an affected Beagle and Australian Cattle Dog: \"Genetic variants identified in stomatocytosis cases were compared to WGS variant call sets (CanFam3.1) of 119 control dogs and &gt; 1,000 dogs from public and private datasets ... . ... Cases did not carry coding variants consistent with single-variant monogenic inheritance in genes linked to …\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- 2025. Whole genome sequencing identifies novel candidate genetic variants in canine stomatocytosis. Gene — PubMed:PMID39929273 | DOI:10.1016/j.gene.2025.149314 — OMIA Phene_Article / Article\n- 1982. Dwarfism in Alaskan malamutes: a disease resembling metaphyseal dysplasia in human beings. Am J Pathol — PubMed:PMID7065114 — OMIA Phene_Article / Article\n- 2004. Stomatocytosis in 7 related Standard Schnauzers. Vet Clin Pathol — PubMed:PMID15570561 | DOI:10.1111/j.1939-165x.2004.tb00379.x — OMIA Phene_Article / Article\n- 2012. Cation-leak stomatocytosis in standard schnauzers does not cosegregate with coding mutations in the RhAG, SLC4A1, or GLUT1 genes associated with human disease. Blood Cells Mol Dis — PubMed:PMID22406315 | DOI:10.1016/j.bcmd.2012.02.003 — OMIA Phene_Article / Article\n- 2021. Stomatocytosis in a Beagle and Australian Cattle Dog. Vet Clin Pathol — PubMed:PMID34628677 | DOI:10.1111/vcp.13001 — OMIA Phene_Article / Article\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 — Schnauzer, Standard — Stomatocytosis (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Schnauzer, Standard — Stomatocytosis (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/39929273/","retrieved":"","ref":"PMID 39929273","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":673,"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."}