{ "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-12T21:54:37Z", "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": 3, "engine": "claude", "enrichment": { "pass": 3, "engine": "claude", "producedAt": "2026-10-06T10:00:00Z", "ingestedAt": "2026-10-06T07:00:01+00:00", "fields": [ "agent_conduct", "ethics", "owners" ] }, "revisions": [ { "at": "2026-10-06T22:29:38+00:00", "engine": "codex", "fields": [ "definition", "distinguishing_features" ], "answering_review": "8af7ee1a2333183a4b3eeead07cdb7d2612bac7222bc25e28cf03e1fd093bbb3" } ], "gate": { "passed": true, "version": "1.0", "at": "2026-10-07T10:10:25+00:00", "evidence": [ "completeness 1.00", "sense: Wikidata description", "2 live sources", "review by codex: pass" ] } }, "metaModel": { "id": "THING-Q1101694", "registryId": "vr.tr.joubert-syndrome", "name": "Joubert syndrome", "version": "0.2.0-wave.3", "entryKind": "thing", "family": "Thing Registry", "domain": [ "ACT.PRC" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q1101694/", "model": { "registry_id": "vr.tr.joubert-syndrome", "name": "Joubert syndrome", "purpose": "Let an agent explain Joubert syndrome and related disorders in general terms, relay diagnosis, genetics, management and support information from clinical and patient organisation sources, and route personal questions to clinicians and genetic counsellors.", "definition": "A rare ciliopathy, usually inherited in an autosomal recessive pattern but with rare X-linked and autosomal dominant forms, defined by a malformation of the cerebellum and brainstem seen on MRI as the molar tooth sign, causing low muscle tone, ataxia, abnormal breathing and eye movements in infancy and developmental delay; more than 35 genes are known, and related disorders add kidney, liver, eye or digital involvement, as in COACH syndrome and oral-facial-digital forms.", "what_it_is_for": "Not applicable; a genetic disorder.", "affordances": [ "explain the condition and its features", "relay genetics and diagnosis principles", "relay management and support information", "route personal questions to clinicians" ], "distinguishing_features": [ "The molar tooth sign is a defining imaging feature.", "This ciliopathy is usually autosomal recessive, with rare X-linked and autosomal dominant forms.", "The syndrome is genetically heterogeneous.", "Related disorders include organ involvement." ], "appearance": "Not a visible object; the molar tooth sign on brain MRI is the defining finding.", "visual_identification": [ "Ciliopathy with the molar tooth sign", "Hypotonia, ataxia, breathing and eye movement abnormalities", "Other ciliopathies and cerebellar disorders are distinguished by imaging and genetics" ], "physical_properties": [ { "quantity": "prevalence", "typical_range": "about 1 in 80000-100000", "unit": "births", "note": "per epidemiological sources" }, { "quantity": "known genes", "typical_range": "over 35", "unit": "count", "note": "" } ], "families_and_kinds": [ "classic Joubert syndrome", "Joubert syndrome with retinal, renal, hepatic or oral-facial-digital involvement", "COACH syndrome", "numbered genetic subtypes", "Joubert syndrome and related disorders as a group" ], "related_models": [ { "relation": "is a kind of", "target": "ciliopathy", "why": "the disease group" }, { "relation": "is a kind of", "target": "autosomal recessive disorder", "why": "the inheritance" }, { "relation": "is part of", "target": "Joubert syndrome and related disorders", "why": "the spectrum" }, { "relation": "is diagnosed by", "target": "magnetic resonance imaging", "why": "the molar tooth sign" } ], "identifiers": [ { "scheme": "OMIM", "value_or_pattern": "213300 and others", "note": "by subtype" }, { "scheme": "ORPHA", "value_or_pattern": "475", "note": "" }, { "scheme": "ICD-10", "value_or_pattern": "Q04.3", "note": "other reduction deformities of brain" } ], "standards_and_regulation": [ "Clinical management guidelines from rare disease consortia", "Rare disease and disability rights frameworks", "Genetic testing regulations" ], "failure_modes_and_hazards": [ "Missed organ involvement without surveillance", "Delayed diagnosis", "Agents giving personal medical advice" ], "in_scope": [], "out_of_scope": [], "characteristics": [], "agent_conduct": { "may": [ "Give general information on Joubert syndrome and point to specialist care and family support groups.", "Explain care needs, such as breathing monitoring in infants, as described by clinicians." ], "must_not": [ "Diagnose Joubert syndrome from symptoms or images.", "Advise on reproductive or genetic decisions.", "Disclose a child's diagnosis without the family's consent." ], "requires_human": [ "Genetic testing and counselling decisions for families." ] }, "ethics": { "considerations": [ "Families face hard decisions and need accurate, compassionate information.", "Children with rare conditions deserve dignity and access to care." ], "affected_parties": [ "Affected children and adults", "Parents and siblings" ] }, "owners": { "steward": "The person affected and their family with their clinicians.", "master_systems": [ "Rare disease patient registries" ] } }, "sources": [ { "id": "wikidata", "title": "Wikidata item Q1101694: Joubert syndrome", "url": "https://www.wikidata.org/wiki/Q1101694", "url_status": "live", "what_it_supports": "identity and sense of the item", "checked_by": "wikidata-api" }, { "id": "wikipedia-en", "title": "Wikipedia: Joubert syndrome", "url": "https://en.wikipedia.org/wiki/Joubert_syndrome", "url_status": "live", "what_it_supports": "general description of the item", "checked_by": "wikidata-api sitelink" } ], "structure": { "bundles": [ { "id": "understand", "name": "Understand", "description": "What the syndrome is.", "rationale": "General information.", "layers": [ { "id": "definition", "name": "Definition", "description": "Definition and features.", "findings": [ { "id": "definition-finding", "name": "Definition", "description": "Definition.", "questions": [ { "text": "What is Joubert syndrome, and what features define it?", "kind": "definition" }, { "text": "Is the user asking about their own or a child condition, which needs a clinician?", "kind": "boundary" } ] } ] }, { "id": "genetics", "name": "Genetics", "description": "Genetics.", "findings": [ { "id": "genetics-finding", "name": "Genetics", "description": "Genetics.", "questions": [ { "text": "Which genes are involved, and how is the condition inherited?", "kind": "definition" }, { "text": "Which entry fits the specific gene or subtype?", "kind": "action" } ] } ] } ] }, { "id": "clinical", "name": "Clinical", "description": "Diagnosis and management.", "rationale": "Clinical.", "layers": [ { "id": "diagnosis", "name": "Diagnosis", "description": "Diagnosis.", "findings": [ { "id": "diagnosis-finding", "name": "Diagnosis", "description": "Diagnosis.", "questions": [ { "text": "How is the syndrome diagnosed, including imaging and genetic testing?", "kind": "provenance" }, { "text": "Is the presentation free of personal medical advice?", "kind": "boundary" } ] } ] }, { "id": "management", "name": "Management", "description": "Management and surveillance.", "findings": [ { "id": "management-finding", "name": "Management", "description": "Management.", "questions": [ { "text": "What management and organ surveillance do guidelines describe, in general terms?", "kind": "provenance" }, { "text": "Which references are standard?", "kind": "provenance" } ] } ] } ] }, { "id": "living", "name": "Living", "description": "Support.", "rationale": "Support.", "layers": [ { "id": "support", "name": "Support", "description": "Support organisations.", "findings": [ { "id": "support-finding", "name": "Support", "description": "Support.", "questions": [ { "text": "What patient organisations and support exist?", "kind": "provenance" }, { "text": "Which entry fits rare disease support?", "kind": "action" } ] } ] }, { "id": "development", "name": "Development", "description": "Development and education.", "findings": [ { "id": "development-finding", "name": "Development", "description": "Development.", "questions": [ { "text": "What do sources say about developmental outcomes and educational support, in general terms?", "kind": "provenance" }, { "text": "Which entry fits developmental disability?", "kind": "action" } ] } ] } ] }, { "id": "research", "name": "Research", "description": "Research and history.", "rationale": "Study.", "layers": [ { "id": "research", "name": "Research", "description": "Research.", "findings": [ { "id": "research-finding", "name": "Research", "description": "Research.", "questions": [ { "text": "What are current research directions, with sources?", "kind": "provenance" }, { "text": "Which sources are cited?", "kind": "provenance" } ] } ] }, { "id": "history", "name": "History", "description": "History.", "findings": [ { "id": "history-finding", "name": "History", "description": "History.", "questions": [ { "text": "How was the syndrome first described by Joubert in 1969 and later defined?", "kind": "provenance" }, { "text": "Which entry fits ciliopathies?", "kind": "action" } ] } ] } ] } ] }, "openQuestions": [ "Should each genetic subtype be a separate entry?", "How should guidelines and registries be linked?", "The registry entry has merged aliases naming numbered subtypes; should they be split off?" ], "statistics": { "bundles": 4, "layers": 8, "findings": 8, "questions": 16 } }