{ "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-13T22:52:39Z", "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": 4, "engine": "claude", "enrichment": { "pass": 3, "engine": "claude", "producedAt": "2026-10-06T11:00:00Z", "ingestedAt": "2026-10-06T07:44:53+00:00", "fields": [ "agent_conduct", "ethics", "owners" ] }, "gate": { "passed": true, "version": "1.0", "at": "2026-10-06T19:51:54+00:00", "evidence": [ "completeness 1.00", "sense: Wikidata description", "2 live sources", "review by codex: pass" ] } }, "metaModel": { "id": "THING-Q1479681", "registryId": "vr.tr.mucopolysaccharidosis", "name": "mucopolysaccharidosis", "version": "0.2.0-wave.4", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q1479681/", "model": { "registry_id": "vr.tr.mucopolysaccharidosis", "name": "mucopolysaccharidosis", "purpose": "Let an agent explain the mucopolysaccharidoses in general terms, relay types, inheritance, signs, diagnosis, treatments and research from rare disease and genetics sources, point families to specialist centres and patient organisations, describe the named types, and distinguish MPS from mucolipidoses, other lysosomal storage diseases, skeletal dysplasias and autism, without diagnosing individuals.", "definition": "A group of rare inherited lysosomal storage disorders in which deficiency of an enzyme needed to break down glycosaminoglycans, formerly called mucopolysaccharides, causes them to accumulate in cells, leading to progressive damage to the skeleton, joints, heart, airways, eyes including corneal clouding and glaucoma, skin and sometimes the brain; types include MPS I, with Hurler, Hurler-Scheie and Scheie forms, MPS II or Hunter syndrome, MPS III or Sanfilippo, MPS IV or Morquio, MPS VI or Maroteaux-Lamy, with rapidly and slowly progressing forms, and MPS VII or Sly syndrome. Treatments include enzyme replacement therapy and haematopoietic stem cell transplantation for some types, and diagnosis and care belong with specialist metabolic centres.", "what_it_is_for": "Not applicable; a group of genetic diseases.", "affordances": [ "explain types and inheritance", "relay treatments in general terms", "describe named types", "point to specialist care and support" ], "distinguishing_features": [ "Enzyme deficiency", "Multisystem progression", "Type-specific features", "Treatable in some types" ], "appearance": "Signs can include coarse facial features, joint stiffness, short stature, corneal clouding and enlarged organs, varying by type.", "visual_identification": [ "Glycosaminoglycan storage disorders", "Mucopolysaccharidosis with skin involvement, MPS VI, rapidly and slowly progressing MPS type 6, Sly syndrome, MPS I", "Mucolipidoses involve other defects; other lysosomal diseases store different substances; skeletal dysplasias are primary bone disorders; autism is neurodevelopmental" ], "physical_properties": [ { "quantity": "inheritance", "typical_range": "autosomal recessive, except MPS II X-linked", "unit": "note", "note": "" }, { "quantity": "first ERT approval for MPS I", "typical_range": "2003", "unit": "year", "note": "laronidase" }, { "quantity": "main types", "typical_range": "I, II, III, IV, VI, VII, IX", "unit": "list", "note": "" } ], "families_and_kinds": [ "MPS I", "MPS II Hunter syndrome", "MPS III Sanfilippo syndrome", "MPS IV Morquio syndrome", "MPS VI Maroteaux-Lamy syndrome", "MPS VII Sly syndrome" ], "related_models": [ { "relation": "is a kind of", "target": "lysosomal storage disease", "why": "in registry terms" }, { "relation": "includes", "target": "Hunter syndrome", "why": "" }, { "relation": "is treated with", "target": "enzyme replacement therapy", "why": "some types" }, { "relation": "is contrasted with", "target": "mucolipidosis", "why": "" } ], "identifiers": [], "standards_and_regulation": [ "Newborn screening programmes in some regions", "Orphan drug regulations", "Rare disease clinical guidelines" ], "failure_modes_and_hazards": [ "Diagnosing individuals", "Anaesthesia and airway risks unmanaged", "Overstating experimental therapies" ], "in_scope": [], "out_of_scope": [], "characteristics": [], "agent_conduct": { "may": [ "Describe the types of mucopolysaccharidosis and their effects from medical sources.", "Point families to specialist centres and patient organisations." ], "must_not": [ "Diagnose a specific child or person from a description.", "Present experimental therapies as proven cures.", "Ignore the special anaesthesia and airway risks when discussing procedures for people with MPS.", "Describe affected people in ways that diminish their dignity." ], "requires_human": [ "Genetic testing or disclosure of results to family members." ] }, "ethics": { "considerations": [ "Rare disease families face long diagnostic journeys and false hopes.", "Genetic information affects relatives and must be kept private." ], "affected_parties": [ "Patients", "Families and carers", "Clinicians" ] }, "owners": { "steward": "The person who has it, with their specialist clinician.", "master_systems": [ "Rare disease registries" ] } }, "sources": [ { "id": "wikidata", "title": "Wikidata item Q1479681: mucopolysaccharidosis", "url": "https://www.wikidata.org/wiki/Q1479681", "url_status": "live", "what_it_supports": "identity and sense of the item", "checked_by": "wikidata-api" }, { "id": "wikipedia-en", "title": "Wikipedia: Mucopolysaccharidosis", "url": "https://en.wikipedia.org/wiki/Mucopolysaccharidosis", "url_status": "live", "what_it_supports": "general description of the item", "checked_by": "wikidata-api sitelink" } ], "structure": { "bundles": [ { "id": "understand", "name": "Understand", "description": "What mucopolysaccharidosis is.", "rationale": "Science.", "layers": [ { "id": "definition", "name": "Definition", "description": "Definition.", "findings": [ { "id": "definition-finding", "name": "Definition", "description": "Definition.", "questions": [ { "text": "What is mucopolysaccharidosis, and how does it differ from mucolipidoses, other lysosomal diseases, skeletal dysplasias and autism?", "kind": "definition" }, { "text": "Does a child with MPS have breathing difficulty or need anaesthesia, in which case specialist teams must be involved and emergencies need emergency services?", "kind": "boundary" } ] } ] }, { "id": "types", "name": "Types", "description": "Named types.", "findings": [ { "id": "types-finding", "name": "Types", "description": "Types.", "questions": [ { "text": "What are MPS I, MPS VI with rapid and slow forms, Sly syndrome and MPS with skin involvement?", "kind": "definition" }, { "text": "Which entry fits the specific type?", "kind": "action" } ] } ] } ] }, { "id": "science", "name": "Science", "description": "Genetics.", "rationale": "Science.", "layers": [ { "id": "enzymes", "name": "Enzymes", "description": "Enzyme deficiencies.", "findings": [ { "id": "enzymes-finding", "name": "Enzymes", "description": "Enzymes.", "questions": [ { "text": "Which enzyme is missing in each type, and how do glycosaminoglycans accumulate?", "kind": "provenance" }, { "text": "Which references are standard?", "kind": "provenance" } ] } ] }, { "id": "inheritance", "name": "Inheritance", "description": "Inheritance.", "findings": [ { "id": "inheritance-finding", "name": "Inheritance", "description": "Inheritance.", "questions": [ { "text": "How are MPS types inherited, and what does genetic counselling offer?", "kind": "provenance" }, { "text": "Which sources are cited?", "kind": "provenance" } ] } ] } ] }, { "id": "care", "name": "Care", "description": "Diagnosis and treatment.", "rationale": "Regulation.", "layers": [ { "id": "diagnosis", "name": "Diagnosis", "description": "Diagnosis.", "findings": [ { "id": "diagnosis-finding", "name": "Diagnosis", "description": "Diagnosis.", "questions": [ { "text": "How are MPS diagnosed through urine, enzyme and genetic tests and newborn screening?", "kind": "provenance" }, { "text": "Which entry fits newborn screening?", "kind": "action" } ] } ] }, { "id": "treatment", "name": "Treatment", "description": "Treatment.", "findings": [ { "id": "treatment-finding", "name": "Treatment", "description": "Treatment.", "questions": [ { "text": "What do ERT and stem cell transplantation offer, and which gene therapies are in trials, checked against current sources?", "kind": "provenance" }, { "text": "Which entry fits enzyme replacement therapy?", "kind": "action" } ] } ] } ] }, { "id": "context", "name": "Context", "description": "Families.", "rationale": "Context.", "layers": [ { "id": "support", "name": "Support", "description": "Patient organisations.", "findings": [ { "id": "support-finding", "name": "Support", "description": "Support.", "questions": [ { "text": "Which organisations support families affected by MPS?", "kind": "provenance" }, { "text": "Which entry fits MPS Society?", "kind": "action" } ] } ] }, { "id": "access", "name": "Access", "description": "Access to therapies.", "findings": [ { "id": "access-finding", "name": "Access", "description": "Access.", "questions": [ { "text": "What debates exist about costs and access to orphan drugs, with positions attributed?", "kind": "provenance" }, { "text": "Is the presentation neutral and attributed?", "kind": "boundary" } ] } ] } ] } ] }, "openQuestions": [ "Should each MPS type be a separate entry?", "How should rare disease resources be linked?", "How should gene therapy trials be kept current?" ], "statistics": { "bundles": 4, "layers": 8, "findings": 8, "questions": 16 } }