Frisian Water Dog — Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_frisian_water_dog_omia3096_dog category: 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)" lang: en source: "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." source_file: pdf-raw/breed-health/frisian_water_dog_omia3096_3096.txt date_parsed: 2026-08-02 tokens_estimated: 110 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_frisian_water_dog_omia3096_dog/01_companion_breed_health_frisian_water_dog_omia3096_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" 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://omia.org/OMIA001574/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Frisian Water Dog — Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive (hereditary; OMIA-verified breed predisposition)

Source: 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.

Claims

• Breed: Frisian Water Dog (Dog)
• Disorder:
• Mode of inheritance: Autosomal recessive
• 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.
• Defect: yes

Associated gene(s)

Derived 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.

• Gene: Entrez Gene ID 3482170 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Verfuurden et al. (2011): c.2893G&gt;T; p.Glu965* in Frisian Water Dog

Evidence (references)

Derived 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.

• 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

Comparative medicine (human OMIM)

Derived 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.

• OMIM:601457 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:179615 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:179616 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" 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."