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 recessiveSummary: See also '[OMIA:000220-9615] : 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&>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."