{"schema":"https://ver.cy/schemas/card/1.0.0","id":"vr.tr.autosomal-recessive-disease","code":"thing-q10267817","url":"https://ver.cy/models/thing/q10267817/","name":"autosomal recessive disease","alternateNames":["autosomal recessive isolated ectopia lentis 2","familial erythrocytosis 2","mosaic variegated aneuploidy syndrome 3","mosaic variegated aneuploidy syndrome 1","autosomal recessive Kenny-Caffey syndrome","fetal akinesia deformation sequence syndrome 4","fetal akinesia deformation sequence syndrome 2","fetal akinesia deformation sequence syndrome 1","fetal akinesia deformation sequence syndrome 3","acute infantile liver failure-multisystemic involvement syndrome","alopecia-mental retardation syndrome 1","alopecia-mental retardation syndrome 4"],"kind":"thing","status":"research-draft","version":"0.2.0-wave.1","language":"en","classifiers":{"family":"Thing Registry","category":"Cross-cutting context","entryKind":"thing","plane":"XCT","domain":["XCT.STA"],"industry":[],"navPath":"","tags":[],"facets":{}},"whatItIs":"A genetic disease inherited in an autosomal recessive pattern, occurring when a person inherits two altered copies of a gene on a non-sex chromosome, one from each parent.","purpose":"Let an agent explain autosomal recessive inheritance accurately, give only general information, and direct individuals to genetic counselling.","scope":{"in":[],"out":[],"boundaries":[]},"distinguishingFeatures":["Two altered copies needed","Carriers are usually unaffected","More common where partners are related","Includes many rare diseases"],"structure":{"bundles":[{"id":"inheritance","name":"Inheritance","description":"How it is passed on.","layers":[{"id":"pattern","name":"Pattern","description":"Recessive inheritance.","findings":[{"id":"pattern-finding","name":"Pattern","description":"Inheritance pattern.","questions":[{"text":"How is it inherited?","kind":"definition"},{"text":"What is the risk for siblings?","kind":"measurement"}]}]},{"id":"carriers","name":"Carriers","description":"Unaffected carriers.","findings":[{"id":"carriers-finding","name":"Carriers","description":"Carrier status.","questions":[{"text":"What does being a carrier mean?","kind":"definition"},{"text":"How is carrier status tested?","kind":"action"}]}]}]},{"id":"diagnosis","name":"Diagnosis","description":"Testing.","layers":[{"id":"testing","name":"Testing","description":"Genetic tests.","findings":[{"id":"testing-finding","name":"Testing","description":"Tests available.","questions":[{"text":"Which tests confirm the diagnosis?","kind":"provenance"},{"text":"Who orders them?","kind":"action"}]}]},{"id":"screening","name":"Screening","description":"Newborn and carrier.","findings":[{"id":"screening-finding","name":"Screening","description":"Screening programmes.","questions":[{"text":"Is it included in newborn screening here?","kind":"provenance"},{"text":"Is carrier screening offered?","kind":"provenance"}]}]}]},{"id":"care","name":"Care","description":"Management and support.","layers":[{"id":"management","name":"Management","description":"Specialist care.","findings":[{"id":"management-finding","name":"Management","description":"Care guidance.","questions":[{"text":"What do guidelines recommend for this specific disease?","kind":"provenance"},{"text":"Which specialist centres exist?","kind":"provenance"}]}]},{"id":"support","name":"Support","description":"Families.","findings":[{"id":"support-finding","name":"Support","description":"Support groups.","questions":[{"text":"Which patient organisations help?","kind":"action"},{"text":"How can families connect?","kind":"action"}]}]}]},{"id":"handling","name":"Handling","description":"Advice and privacy.","layers":[{"id":"counselling","name":"Counselling","description":"Professional advice.","findings":[{"id":"counselling-finding","name":"Counselling","description":"Referral.","questions":[{"text":"Should the person see a genetic counsellor?","kind":"action"},{"text":"What can be said in general terms?","kind":"boundary"}]}]},{"id":"privacy","name":"Privacy","description":"Family data.","findings":[{"id":"privacy-finding","name":"Privacy","description":"Data protection.","questions":[{"text":"Is genetic data being shared lawfully?","kind":"boundary"},{"text":"Which relatives are affected?","kind":"boundary"}]}]}]}]},"agentConduct":{"may":["Explain how autosomal recessive inheritance works from medical sources.","Suggest genetic counselling to people asking about their risk."],"mustNot":["Tell a person or couple their genetic risk from family stories alone.","Disclose a person's carrier status without consent.","Stigmatise carriers or communities with higher carrier rates.","Advise on reproductive decisions in place of a genetic counsellor."],"requiresHuman":["Interpreting genetic test results for a person."]},"ethics":{"considerations":["Carrier screening raises questions of consent and reproductive choice.","Communities with high carrier rates face stigma."],"affectedParties":["Affected people and families","Carriers","Communities with high carrier rates"]},"owners":{"steward":"Nobody owns a disease; clinicians and genetic services diagnose it.","roles":[],"masterSystems":["Rare disease registries"]},"relations":[{"target":"Q18553442","type":"parent","note":"registry parent class"},{"target":"disease","type":"related","note":"genetic disease"},{"target":"mutation","type":"related","note":"variants"},{"target":"ICD-11, OMIM and Orphanet","type":"related","note":"codes"},{"target":"syndrome","type":"related","note":"many are syndromes"}],"interaction":{"identity":{"applicability":"required","items":["Vercy registry: vr.tr.autosomal-recessive-disease","Wikidata: Q10267817 (https://www.wikidata.org/wiki/Q10267817)","OMIM number: six digits genetic conditions","ORPHAcode: numeric rare diseases"]},"properties":{"applicability":"not-applicable","items":["recurrence risk for carrier couples: 25 percent per pregnancy - classic Mendelian expectation"]},"recognition":{"applicability":"optional","items":["Diagnosis requires genetic testing","Family pattern: unaffected carrier parents","Specific diseases are listed separately","No single appearance; features depend on the specific disease."]},"capabilities":{"applicability":"required","items":["diagnose it by genetic testing","counsel families about recurrence risk","screen carriers where offered","support affected people"]},"hazards":{"applicability":"required","items":["Misstating recurrence risk","Individual genetic advice without a counsellor","Stigma for families"]},"interfaces":{"applicability":"required","items":["Genetic testing and counselling guidelines","Genetic data protection law","Newborn screening programmes"]},"context":{"applicability":"required","items":["Naming an inheritance pattern shared by many rare diseases, which guides testing and family counselling.","metabolic disorders","blood disorders","neuromuscular disorders","syndromic conditions"]}},"sources":[{"title":"Wikidata item Q10267817: autosomal recessive disease","url":"https://www.wikidata.org/wiki/Q10267817","note":"identity and sense of the item"},{"title":"Wikipedia (pt): Doença autossômica recessiva","url":"https://pt.wikipedia.org/wiki/Doen%C3%A7a_autoss%C3%B4mica_recessiva","note":"general description of the item"}],"openQuestions":["Should each recessive disease be linked to OMIM?","How should agents signpost genetic counselling?","How should carrier screening be described neutrally?"],"resources":{"spec":"/models/things/publications/thing-q10267817/spec.json"},"provenance":{"origin":"thing registry research (pass 2)","builtFrom":["models/things/publications/thing-q10267817/spec.json"],"providers":["Claude"],"researchStatus":"unreviewed","generatedAt":"2026-09-11T06:19:07Z","builder":"tools/build_cards.py@1.0.0"},"completeness":{"sections":{"classifiers":"filled","whatItIs":"filled","purpose":"filled","distinguishingFeatures":"filled","structure":"filled","agentConduct":"filled","ethics":"filled","owners":"filled","relations":"filled","interaction.identity":"filled","interaction.properties":"not-applicable","interaction.recognition":"filled","interaction.capabilities":"filled","interaction.hazards":"filled","interaction.interfaces":"filled","interaction.context":"filled","sources":"filled"},"notes":{"interaction.properties":"Plane XCT: no invented physical properties."},"score":1.0}}