--- license: permission_granted topic_id: companion_breed_health_parson_russell_terrier_omia3512_dog category: companion-breed-health title: "Parson Russell Terrier — Amelogenesis imperfecta, ENAM-related (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/parson_russell_terrier_omia3512_3512.txt date_parsed: 2026-08-02 tokens_estimated: 194 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_parson_russell_terrier_omia3512_dog/01_companion_breed_health_parson_russell_terrier_omia3512_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: "Parson Russell Terrier — Amelogenesis imperfecta, ENAM-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001805/9615/" 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
Parson Russell Terrier — Amelogenesis imperfecta, ENAM-related (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: Parson Russell Terrier (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: Also known as Enamel hypoplasia.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.Defect: yesPrevalence: Hytönen et al. (2019) reported a carrier frequency of 9% for the c.716CT ENAM variant in Parson Russell Terriers.
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 388249183 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
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.
- 2009. Enamel defects in Standard Poodle dogs in Sweden. Journal of Veterinary Dentistry — OMIA Phene_Article / Article
- 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
- 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
- 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
- 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
- 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
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:204650 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:104500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:606585 (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."