{"topic_id":"companion_breed_health_poodle_miniature_ichthyosis_syndromic_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_poodle_miniature_ichthyosis_syndromic_dog\ncategory: companion-breed-health\ntitle: \"Poodle, Miniature — Ichthyosis, syndromic (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/poodle_miniature_ichthyosis_syndromic_6050.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 141\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_poodle_miniature_ichthyosis_syndromic_dog/01_companion_breed_health_poodle_miniature_ichthyosis_syndromic_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: \"Poodle, Miniature — Ichthyosis, syndromic (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002243/9615/\"\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# Poodle, Miniature — Ichthyosis, syndromic (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: Poodle, Miniature (Dog)`\n- `Disorder: Ichthyosis, syndromic`\n- `Mode of inheritance: Dominant`\n- `Clin feat: Kiener et al. (2024) investigated a miniature poodle with early onset generalized scaling, dry and irregularly thickened skin, paw pad hyperkeratosis and abnormalities in hair and teeth.nbsp;`\n- `Defect: yes`\n- `Pathology: Histopathological examination of the affected miniature poodle revealed mild epidermal hyperplasia and lamellar orthokeratotic hyperkeratosis (Kiener et al. 2024)`\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 398298916 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Kiener et al. (2024) \"sequenced the whole genome of the affected [miniature poodle] dog and searched for potentially causative variants in functional candidate genes for the observed phenotype. The analysis revealed a heterozygous in-frame deletion in <em>DSP</em>, NC_049256.1:g.8804542_8804544del resulting from a de novo mutation event as evidenced by genotyping leukocyte DNA from both parents. T…\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- 2024. Heterozygous DSP in-frame deletion in a poodle with syndromic ichthyosis involving additional hair and tooth abnormalities. Anim Genet — PubMed:PMID39136317 | DOI:10.1111/age.13467 — 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:125647 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:615821 (type: trait) — 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 — Poodle, Miniature — Ichthyosis, syndromic (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Poodle, Miniature — Ichthyosis, syndromic (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/39136317/","retrieved":"","ref":"PMID 39136317","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":601,"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."}