{"topic_id":"companion_breed_health_karelian_bear_dog_omia4144_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_karelian_bear_dog_omia4144_dog\ncategory: companion-breed-health\ntitle: \"Karelian Bear Dog — Hypophosphatasia (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/karelian_bear_dog_omia4144_4144.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 237\nverification:\n  method: substring_match\n  claims: 7\n  passed: 7\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_karelian_bear_dog_omia4144_dog/01_companion_breed_health_karelian_bear_dog_omia4144_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: \"Karelian Bear Dog — Hypophosphatasia (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002162/9615/\"\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# Karelian Bear Dog — Hypophosphatasia (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: Karelian Bear Dog (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Kyöstilä et al. (2019): The disease was recognized in seven KBD puppies with a variable presentation of skeletal hypomineralization, growth retardation, seizures and movement difficulties`\n- `Defect: yes`\n- `Pathology: Kyöstilä et al. (2019): Overall, the pathological findings in affected dogs were compatible with a generalized skeletal ossification and mineralization defect. The specific finding of C cell hyperplasia was indicative of long-term hypercalcemia and compatible with the elevated serum calcium level measured in one affected puppy.`\n- `Prevalence: Kyöstilä et al. (2019): The identified recessive variant showed full segregation with the disease in a cohort of 509 KBDs with a carrier frequency of 0.17 and was absent from 303 dogs from control breeds.`\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: ALP (Entrez Gene ID 388199066) — OMIA Phene_Gene / GeneSynonym\n- OMIA molecular-genetics note: Kyöstilä et al. (2019): \"Exome sequencing of one affected dog revealed a homozygous missense variant (c.1301T > G; p.V434G) in the tissue non-specific alkaline phosphatase gene, ALPL.\"\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- 2019. A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia. Sci Rep — PubMed:PMID30700765 | DOI:10.1038/s41598-018-37801-2 — 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:241500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:171760 (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 — Karelian Bear Dog — Hypophosphatasia (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Karelian Bear Dog — Hypophosphatasia (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/30700765/","retrieved":"","ref":"PMID 30700765","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":648,"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."}