{"topic_id":"companion_breed_health_parson_russell_terrier_omia3512_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_parson_russell_terrier_omia3512_dog\ncategory: companion-breed-health\ntitle: \"Parson Russell Terrier — Amelogenesis imperfecta, ENAM-related (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/parson_russell_terrier_omia3512_3512.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 194\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_parson_russell_terrier_omia3512_dog/01_companion_breed_health_parson_russell_terrier_omia3512_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: \"Parson Russell Terrier — Amelogenesis imperfecta, ENAM-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001805/9615/\"\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# Parson Russell Terrier — Amelogenesis imperfecta, ENAM-related (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: Parson Russell Terrier (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: Also known as Enamel hypoplasia.`\n- `Clin feat: For Italian Greyhounds, the clinical signs as reported by Gandolfi et al. (2013) are A brownish mottling and roughening of teeth is apparent in areas where enamel is thin or absent . . . . Affected permanent teeth are often small and pointed compared with normal teeth . . . . Greater than normal gaps between teeth are often noticeable in young dogs and become more apparent with age due to premature enamel wear.`\n- `Defect: yes`\n- `Prevalence: Hytönen et al. (2019) reported a carrier frequency of 9% for the c.716CT ENAM variant in Parson Russell Terriers.`\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 388249183 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\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- 2009. Enamel defects in Standard Poodle dogs in Sweden. Journal of Veterinary Dentistry — OMIA Phene_Article / Article\n- 2013. Simple recessive mutation in ENAM is associated with amelogenesis imperfecta in Italian Greyhounds. Anim Genet — PubMed:PMID23638899 | DOI:10.1111/age.12043 — OMIA Phene_Article / Article\n- 2017. An autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity. Canine Genet Epidemiol — PubMed:PMID29201383 | DOI:10.1186/s40575-017-0049-1 — OMIA Phene_Article / Article\n- 2018. Letter to the editor regarding an autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity. Canine Genet Epidemiol — PubMed:PMID29744112 | DOI:10.1186/s40575-018-0059-7 — OMIA Phene_Article / Article\n- 2019. Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet — PubMed:PMID30877375 | DOI:10.1007/s00439-019-01997-8 — OMIA Phene_Article / Article\n- 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — 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:204650 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:104500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:606585 (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 — Parson Russell Terrier — Amelogenesis imperfecta, ENAM-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Parson Russell Terrier — Amelogenesis imperfecta, ENAM-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/23638899/","retrieved":"","ref":"PMID 23638899","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":802,"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."}