{"topic_id":"companion_breed_health_frisian_water_dog_omia3096_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_frisian_water_dog_omia3096_dog\ncategory: companion-breed-health\ntitle: \"Frisian Water Dog — Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive (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/frisian_water_dog_omia3096_3096.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 110\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_frisian_water_dog_omia3096_dog/01_companion_breed_health_frisian_water_dog_omia3096_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: \"Frisian Water Dog — Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001574/9615/\"\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# Frisian Water Dog — Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive (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: Frisian Water Dog (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: See also 'a href=https://www.omia.org/OMIA001574/9615/OMIA:000220-9615/a : Severe combined immunodeficiency disease, autosomal, PRKDC-related' for severe combined immunodeficiency disease caused by genetic variants in the PRKDC gene.`\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- Gene: Entrez Gene ID 3482170 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Verfuurden et al. (2011): c.2893G&gt;T; p.Glu965* in Frisian Water Dog\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- 2011. Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation. Genes Immun — PubMed:PMID21293384 | DOI:10.1038/gene.2011.6 — 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:601457 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:179615 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:179616 (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 — Frisian Water Dog — Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Frisian Water Dog — Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/21293384/","retrieved":"","ref":"PMID 21293384","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":557,"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."}