{"topic_id":"companion_breed_health_doberman_pinscher_dings_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_doberman_pinscher_dings_dog\ncategory: companion-breed-health\ntitle: \"Doberman Pinscher — DINGS (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/doberman_pinscher_dings_4109.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 162\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_doberman_pinscher_dings_dog/01_companion_breed_health_doberman_pinscher_dings_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: \"Doberman Pinscher — DINGS (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002148/9615/\"\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# Doberman Pinscher — DINGS (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: Doberman Pinscher (Dog)`\n- `Disorder: DINGS`\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: See also: a href=https://omia.org/OMIA002196/9615/OMIA:002196-9615/a : Deafness, unilateral and vestibular dysfunction, PTPRQ-relatednbsp; in Canis lupus familiaris (dog)`\n- `Defect: yes`\n- `Prevalence: Webb et al. (2019): Of 632 [unaffected Doberman Pinscher] dogs tested, none were homozygous. We found that 62 dogs were heterozygous for the mutation, suggesting an allele frequency of 4.9% (62/1224 chromosomes sampled) and a carrier frequency in the breed of nearly 10%.`\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 388251254 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Analysis of sequence in the mapped region of an affected Doberman Pinscher enabled Webb et al. (2019) to identify a missence mutation in the MYO7A gene (c.3719G&gt;A; p.R1240Q) as the likely causal variant. All affected dogs were homozygous for this variant.\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- 1992. Congenital deafness and vestibular deficit in the Dobermann. Journal of Small Animal Practice — DOI:10.1111/j.1748-5827.1992.tb01120.x — OMIA Phene_Article / Article\n- 2005. Congenital sensorineural deafness in dogs: a molecular genetic approach toward unravelling the responsible genes. Vet J — PubMed:PMID15727910 | DOI:10.1016/j.tvjl.2004.01.015 — OMIA Phene_Article / Article\n- 2012. Canine deafness. Vet Clin North Am Small Anim Pract — PubMed:PMID23122177 | DOI:10.1016/j.cvsm.2012.08.010 — OMIA Phene_Article / Article\n- 2019. A missense mutation in MYO7A is associated with bilateral deafness and vestibular dysfunction in the Doberman pinscher breed. Can J Vet Res — PubMed:PMID31097876 — OMIA Phene_Article / Article\n- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — 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:276900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:600060 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:601317 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:276903 (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 — Doberman Pinscher — DINGS (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Doberman Pinscher — DINGS (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/15727910/","retrieved":"","ref":"PMID 15727910","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":742,"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."}