{
  "vercy": "1.0-draft",
  "publication": {
    "status": "research-draft",
    "adjudicationStatus": "unreviewed",
    "publishableCanonical": false,
    "generatedAt": "2026-09-11T06:19:07Z",
    "providers": [
      "Claude"
    ],
    "breadth": "written by Claude from model knowledge without web access - no source was read, every claim is a lead to verify",
    "pass": 2,
    "wave": 1,
    "engine": "claude",
    "enrichment": {
      "pass": 3,
      "engine": "claude",
      "producedAt": "2026-10-05T16:30:00Z",
      "ingestedAt": "2026-10-05T13:23:50+00:00",
      "fields": [
        "agent_conduct",
        "ethics",
        "owners"
      ]
    }
  },
  "metaModel": {
    "id": "THING-Q10267817",
    "registryId": "vr.tr.autosomal-recessive-disease",
    "name": "autosomal recessive disease",
    "version": "0.2.0-wave.1",
    "entryKind": "thing",
    "family": "Thing Registry",
    "domain": [
      "XCT.STA"
    ],
    "status": "research-draft"
  },
  "canonicalUrl": "https://ver.cy/models/thing/q10267817/",
  "model": {
    "registry_id": "vr.tr.autosomal-recessive-disease",
    "name": "autosomal recessive disease",
    "purpose": "Let an agent explain autosomal recessive inheritance accurately, give only general information, and direct individuals to genetic counselling.",
    "definition": "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.",
    "what_it_is_for": "Naming an inheritance pattern shared by many rare diseases, which guides testing and family counselling.",
    "affordances": [
      "diagnose it by genetic testing",
      "counsel families about recurrence risk",
      "screen carriers where offered",
      "support affected people"
    ],
    "distinguishing_features": [
      "Two altered copies needed",
      "Carriers are usually unaffected",
      "More common where partners are related",
      "Includes many rare diseases"
    ],
    "appearance": "No single appearance; features depend on the specific disease.",
    "visual_identification": [
      "Diagnosis requires genetic testing",
      "Family pattern: unaffected carrier parents",
      "Specific diseases are listed separately"
    ],
    "physical_properties": [
      {
        "quantity": "recurrence risk for carrier couples",
        "typical_range": "25",
        "unit": "percent per pregnancy",
        "note": "classic Mendelian expectation"
      }
    ],
    "families_and_kinds": [
      "metabolic disorders",
      "blood disorders",
      "neuromuscular disorders",
      "syndromic conditions"
    ],
    "related_models": [
      {
        "relation": "is a kind of",
        "target": "disease",
        "why": "genetic disease"
      },
      {
        "relation": "is caused by",
        "target": "mutation",
        "why": "variants"
      },
      {
        "relation": "is classified by",
        "target": "ICD-11, OMIM and Orphanet",
        "why": "codes"
      },
      {
        "relation": "is related to",
        "target": "syndrome",
        "why": "many are syndromes"
      }
    ],
    "identifiers": [
      {
        "scheme": "OMIM number",
        "value_or_pattern": "six digits",
        "note": "genetic conditions"
      },
      {
        "scheme": "ORPHAcode",
        "value_or_pattern": "numeric",
        "note": "rare diseases"
      }
    ],
    "standards_and_regulation": [
      "Genetic testing and counselling guidelines",
      "Genetic data protection law",
      "Newborn screening programmes"
    ],
    "failure_modes_and_hazards": [
      "Misstating recurrence risk",
      "Individual genetic advice without a counsellor",
      "Stigma for families"
    ],
    "in_scope": [],
    "out_of_scope": [],
    "characteristics": [],
    "agent_conduct": {
      "may": [
        "Explain how autosomal recessive inheritance works from medical sources.",
        "Suggest genetic counselling to people asking about their risk."
      ],
      "must_not": [
        "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."
      ],
      "requires_human": [
        "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."
      ],
      "affected_parties": [
        "Affected people and families",
        "Carriers",
        "Communities with high carrier rates"
      ]
    },
    "owners": {
      "steward": "Nobody owns a disease; clinicians and genetic services diagnose it.",
      "master_systems": [
        "Rare disease registries"
      ]
    }
  },
  "sources": [
    {
      "id": "wikidata",
      "title": "Wikidata item Q10267817: autosomal recessive disease",
      "url": "https://www.wikidata.org/wiki/Q10267817",
      "url_status": "live",
      "what_it_supports": "identity and sense of the item",
      "checked_by": "wikidata-api"
    },
    {
      "id": "wikipedia-pt",
      "title": "Wikipedia (pt): Doença autossômica recessiva",
      "url": "https://pt.wikipedia.org/wiki/Doen%C3%A7a_autoss%C3%B4mica_recessiva",
      "url_status": "live",
      "checked_by": "wikidata-api sitelink",
      "what_it_supports": "general description of the item"
    }
  ],
  "structure": {
    "bundles": [
      {
        "id": "inheritance",
        "name": "Inheritance",
        "description": "How it is passed on.",
        "rationale": "The pattern explains risk.",
        "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.",
        "rationale": "Testing is done by specialists.",
        "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.",
        "rationale": "Care is specialist.",
        "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.",
        "rationale": "Genetic information is sensitive.",
        "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"
                  }
                ]
              }
            ]
          }
        ]
      }
    ]
  },
  "openQuestions": [
    "Should each recessive disease be linked to OMIM?",
    "How should agents signpost genetic counselling?",
    "How should carrier screening be described neutrally?"
  ],
  "statistics": {
    "bundles": 4,
    "layers": 8,
    "findings": 8,
    "questions": 16
  }
}