{"topic_id":"companion_breed_health_domestic_shorthair_omia4082_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_domestic_shorthair_omia4082_cat\ncategory: companion-breed-health\ntitle: \"Domestic Shorthair — Goldenhar syndrome (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/domestic_shorthair_omia4082_4082.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 271\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_domestic_shorthair_omia4082_cat/01_companion_breed_health_domestic_shorthair_omia4082_cat.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: \"Domestic Shorthair — Goldenhar syndrome (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002136/9685/\"\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# Domestic Shorthair — Goldenhar syndrome (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: Domestic Shorthair (Cat)`\n- `Disorder: `\n- `Summary: Berkowski et al. (2018) concluded that The congenital abnormalities observed resembled those described for human patients with Goldenhar syndrome.`\n- `Clin feat: Berkowski et al. (2018): Physical examination revealed bilateral microphthalmia, bilaterally symmetrical corneal dermoids, ankyloblepharon, superior and inferior entropion, prognathism, and facial asymmetry with deviation of the nasal septum. Computed tomography revealed malformed, thickened bony orbits with mineralization of the orbital ligament bilaterally. Moderate rightward deviation of the nasal septum and ventral nasal meatus was also evident, with no identifiable maxillary sinuses. Results of MRI of the brain were unremarkable. Abdominal ultrasonography showed an irregularly marginated left kidney and a right kidney defect suggestive of chronic renal infarction. An abnormal, well-demarcated, focally thickened region of the muscularis externa of the jejunum was also evident.`\n- `Defect: yes`\n## Evidence (references)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.\n- 2018. Microphthalmia, corneal dermoids, and congenital anomalies resembling Goldenhar syndrome in a cat.. J Am Vet Med Assoc — PubMed:PMID29346049 | DOI:10.2460/javma.252.3.324 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.\n- OMIM:164210 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n## Evidence (references)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.\n- 2018. Microphthalmia, corneal dermoids, and congenital anomalies resembling Goldenhar syndrome in a cat. J Am Vet Med Assoc — PubMed:PMID29346049 | DOI:10.2460/javma.252.3.324 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.\n- OMIM:164210 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\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- 2018. Microphthalmia, corneal dermoids, and congenital anomalies resembling Goldenhar syndrome in a cat. J Am Vet Med Assoc — PubMed:PMID29346049 | DOI:10.2460/javma.252.3.324 — 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:164210 (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## 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- 2018. Microphthalmia, corneal dermoids, and congenital anomalies resembling Goldenhar syndrome in a cat. J Am Vet Med Assoc — PubMed:PMID29346049 | DOI:10.2460/javma.252.3.324 — 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:164210 (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## 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- 2018. Microphthalmia, corneal dermoids, and congenital anomalies resembling Goldenhar syndrome in a cat. J Am Vet Med Assoc — PubMed:PMID29346049 | DOI:10.2460/javma.252.3.324 — 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:164210 (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 — Domestic Shorthair — Goldenhar syndrome (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Domestic Shorthair — Goldenhar syndrome (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/29346049/","retrieved":"","ref":"PMID 29346049","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":1090,"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."}