{"topic_id":"companion_species_health_congenital_adrenal_hyperplasia_rabbit","category":"companion-species-health","context":"---\nlicense: permission_granted\ntopic_id: companion_species_health_congenital_adrenal_hyperplasia_rabbit\ncategory: companion-species-health\ntitle: \"Rabbit (Oryctolagus cuniculus) — Congenital adrenal hyperplasia (hereditary; OMIA-verified species predisposition)\"\nlang: en\nsource: \"OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump.\"\nsource_file: pdf-raw/species-health/rabbit_congenital_adrenal_hyperplasia_33.txt\ndate_parsed: 2026-08-24\ntokens_estimated: 87\nverification:\n  method: substring_match\n  claims: 3\n  passed: 3\n  date: 2026-08-24\nrecovered: false\npath: companion-species-health/companion_species_health_congenital_adrenal_hyperplasia_rabbit/01_companion_species_health_congenital_adrenal_hyperplasia_rabbit.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: \"Rabbit (Oryctolagus cuniculus) — Congenital adrenal hyperplasia (hereditary; OMIA-verified species predisposition)\"\n  url: \"https://omia.org/OMIA000017/9986/\"\n  retrieved: \"2026-08-24\"\n  ref: \"OMIA species-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 (species-specific disorder entries)\"\n  needs_review: false\n\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\n# Rabbit (Oryctolagus cuniculus) — Congenital adrenal hyperplasia (hereditary; OMIA-verified species predisposition)\n\nSource: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to `source_file`; every claim below is a C1 byte-substring of it.\n\n## Claims\n\n- `Species: Rabbit (Oryctolagus cuniculus)`\n- `Disorder: Congenital adrenal hyperplasia`\n- `Clin feat: Death within 3 days of birth; complete feminization of external genitalia of males; grossly enlarged adrenals (195 mg cf 3 mg); hypertrophied zona fasciculta cells with multiple vacuolization`\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: CYPXIA1 (Entrez Gene ID 175428176) — OMIA Phene_Gene / GeneSynonym\n- OMIA molecular-genetics note: Molecular evidence provided by Yang et al. (1993) implicates a large deletion in the gene for cholesterol side-chain cleavage enzyme (P450SCC, renamed CYP11A1). Sequencing of the normal and mutant forms should provide definitive evidence of the nature of the mutation.\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- 1993. Inherited congenital adrenal hyperplasia in the rabbit is caused by a deletion in the gene encoding cytochrome-P450 cholesterol side-chain cleavage enzyme. Endocrinology — PubMed:PMID7682938 | DOI:10.1210/endo.132.5.7682938 — OMIA Phene_Article / Article\n- 1994. Evidence of a steroidogenic enzyme gene dose effect on  adrenal gene expression in hereditary rabbit congenital  adrenal hyperplasia. Pediatric Research — PubMed:PMID7877888 — OMIA Phene_Article / Article\n- 1978. Genetics and pathology of hereditary adrenal hyperplasia in the rabbit. Journal of Heredity — PubMed:PMID731013 — OMIA Phene_Article / Article\n- 1992. Inherited congenital adrenal hyperplasia in the rabbit: absent cholesterol side-chain cleavage cytochrome P450 gene expression. Endocrinology — PubMed:PMID1611996 — OMIA Phene_Article / Article\n- 2023. Models of congenital adrenal hyperplasia for gene therapies testing. Int J Mol Sci — PubMed:PMID36982440 | DOI:10.3390/ijms24065365 — 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:118485 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:613743 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-species-health — Rabbit (Oryctolagus cuniculus) — Congenital adrenal hyperplasia (hereditary; OMIA-verified species predisposition)"],"source":{"authority":"companion-species-health","title":"Rabbit (Oryctolagus cuniculus) — Congenital adrenal hyperplasia (hereditary; OMIA-verified species predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/7682938/","retrieved":"","ref":"PMID 7682938","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":687,"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."}