{ "model": { "rank": 11431, "code": "thing-q749409", "model_id": "vr.tr.osteogenesis-imperfecta", "name": "osteogenesis imperfecta", "purpose": "Let an agent explain osteogenesis imperfecta and its types in general terms, relay diagnosis, management and support information from clinical and patient organisation sources, distinguish it from other bone fragility conditions and from non-accidental injury, and route personal questions to clinicians and genetic counsellors.", "family": "Thing Registry", "category": "Cross-cutting context", "status": "research-draft", "kind": "thing", "plane": "XCT", "domain": "XCT.STA", "industry": "", "version": "", "url": "/models/thing/q749409/", "tier": 2, "score": 42, "payload": { "layer": "wikidata", "aliases": [ "osteogenesis imperfecta type 2", "osteogenesis imperfecta type 13", "osteogenesis imperfecta type 10", "osteogenesis imperfecta type 15", "osteogenesis imperfecta type 14", "osteogenesis imperfecta type 6", "osteogenesis imperfecta type 5", "osteogenesis imperfecta type 9", "osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures", "osteogenesis imperfecta type 19", "osteogenesis imperfecta type 20", "osteogenesis imperfecta type 18", "osteogenesis imperfecta type 17", "osteogenesis imperfecta type 8", "osteogenesis imperfecta type 7", "osteogenesis imperfecta type 12", "osteogenesis imperfecta type 11", "osteogenesis imperfecta type 1", "osteogenesis imperfecta type 3", "osteogenesis imperfecta type 4", "osteogenesis imperfecta 21", "Cole-Carpenter syndrome", "osteogenesis imperfecta type 16", "brittle bone disorder" ], "aliasCount": 24, "merged": 24, "knownIn": 42, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": "vr.tr.osteogenesis-imperfecta", "source": { "dataset": "wikidata", "item": "Q749409", "url": "https://www.wikidata.org/wiki/Q749409", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-12T21:54:36Z", "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" }, "metaModel": { "id": "THING-Q749409", "registryId": "vr.tr.osteogenesis-imperfecta", "name": "osteogenesis imperfecta", "version": "0.2.0-wave.3", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q749409/", "model": { "registry_id": "vr.tr.osteogenesis-imperfecta", "name": "osteogenesis imperfecta", "purpose": "Let an agent explain osteogenesis imperfecta and its types in general terms, relay diagnosis, management and support information from clinical and patient organisation sources, distinguish it from other bone fragility conditions and from non-accidental injury, and route personal questions to clinicians and genetic counsellors.", "definition": "A group of inherited disorders of connective tissue, mostly caused by variants in the type I collagen genes COL1A1 and COL1A2 or in genes affecting collagen processing, that make bones fragile and prone to fracture; osteogenesis imperfecta ranges from mild forms with few fractures to severe and lethal forms, may involve blue sclerae, hearing loss, dental defects and short stature, and is managed by multidisciplinary care including bisphosphonates, surgery and physiotherapy.", "what_it_is_for": "Not applicable; a genetic disorder.", "affordances": [ "explain the condition and its types", "relay diagnosis and management principles", "relay support and patient organisation information", "route personal questions to clinicians" ], "distinguishing_features": [ "Collagen-related bone fragility", "Wide severity range", "Genetic classification", "Multidisciplinary care" ], "appearance": "Not a visible object; signs may include frequent fractures, bone deformity, blue sclerae and short stature.", "visual_identification": [ "Inherited bone fragility from collagen defects", "Numbered types by severity and genetics", "Osteoporosis and non-accidental injury are different causes of fractures" ], "physical_properties": [ { "quantity": "prevalence", "typical_range": "about 1 in 15000-20000", "unit": "births", "note": "per epidemiological sources" }, { "quantity": "types", "typical_range": "over 20", "unit": "count", "note": "by genetic classification" } ], "families_and_kinds": [ "type I, mild", "type II, perinatal lethal", "type III, severe progressive", "type IV, moderate", "types V and beyond by genetic cause, including recessive forms", "genetic subtypes numbered into the teens" ], "related_models": [ { "relation": "is a kind of", "target": "osteochondrodysplasia", "why": "in registry terms" }, { "relation": "is a kind of", "target": "genetic disorder", "why": "mostly autosomal dominant" }, { "relation": "is caused by", "target": "COL1A1", "why": "and COL1A2 variants in most cases" }, { "relation": "is confused with", "target": "non-accidental injury", "why": "in fracture assessment" } ], "identifiers": [ { "scheme": "ICD-10", "value_or_pattern": "Q78.0", "note": "" }, { "scheme": "OMIM", "value_or_pattern": "166200 and others", "note": "by type" }, { "scheme": "ORPHA", "value_or_pattern": "666", "note": "" } ], "standards_and_regulation": [ "Clinical guidelines from bone and rare disease bodies", "Rare disease and disability rights frameworks", "Newborn and genetic testing regulations" ], "failure_modes_and_hazards": [ "Fractures and deformity", "Misattribution of fractures to abuse or vice versa", "Missed diagnosis of mild forms", "Agents giving personal medical advice" ], "in_scope": [], "out_of_scope": [], "characteristics": [] }, "sources": [], "structure": { "bundles": [ { "id": "understand", "name": "Understand", "description": "What the condition is.", "rationale": "General information.", "layers": [ { "id": "definition", "name": "Definition", "description": "Definition and types.", "findings": [ { "id": "definition-finding", "name": "Definition", "description": "Definition.", "questions": [ { "text": "What is osteogenesis imperfecta, and how are its types classified?", "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 type?", "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 condition diagnosed, including genetic testing and distinction from other causes of fracture?", "kind": "provenance" }, { "text": "Is the presentation free of personal medical advice?", "kind": "boundary" } ] } ] }, { "id": "management", "name": "Management", "description": "Management.", "findings": [ { "id": "management-finding", "name": "Management", "description": "Management.", "questions": [ { "text": "What management do guidelines describe, from bisphosphonates to surgery and physiotherapy, in general terms?", "kind": "provenance" }, { "text": "Which references are standard?", "kind": "provenance" } ] } ] } ] }, { "id": "living", "name": "Living", "description": "Living with the condition.", "rationale": "Support.", "layers": [ { "id": "support", "name": "Support", "description": "Support and organisations.", "findings": [ { "id": "support-finding", "name": "Support", "description": "Support.", "questions": [ { "text": "What patient organisations, rights and support exist?", "kind": "provenance" }, { "text": "Which entry fits rare disease support?", "kind": "action" } ] } ] }, { "id": "safety", "name": "Safety", "description": "Safety and adaptation.", "findings": [ { "id": "safety-finding", "name": "Safety", "description": "Safety.", "questions": [ { "text": "What adaptations and precautions do organisations recommend, in general terms?", "kind": "provenance" }, { "text": "Which entry fits disability accommodation?", "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, such as gene and cell therapies?", "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 condition described and classified historically, including the Sillence classification?", "kind": "provenance" }, { "text": "Which entry fits the history of genetics?", "kind": "action" } ] } ] } ] } ] }, "openQuestions": [ "Should each type be a separate entry?", "How should guidelines and registries be linked?", "The registry entry has merged aliases naming numbered types; should they be split off?" ], "statistics": { "bundles": 4, "layers": 8, "findings": 8, "questions": 16 } }, "draft": { "generator": "vr.draft.v3", "status": "draft-generated", "researched": false, "archetype": "abstract concept", "method": "Written from the archetype playbook - what this kind of thing needs beyond identity and provenance - and from the structure that recurred across 6,333 models already researched by two engines. Applied to this entry by rule. No source was read for this thing and no claim here is researched. This entry carries no facets of its own, so they were inferred from its domain - a guess about a whole domain applied to one thing.", "facetsInferred": true, "nextPass": "A researcher replaces this draft with a sourced specification. Treat every sentence below as a proposal to argue with.", "purpose": "Give an agent a durable, checkable way to recognise a osteogenesis imperfecta, record what state it is in, and decide what may be done with it.", "whatItIs": "Let an agent explain osteogenesis imperfecta and its types in general terms, relay diagnosis, management and support information from clinical and patient organisation sources, distinguish it from other bone fragility conditions and from non-accidental injury, and route personal questions to clinicians and genetic counsellors.", "characteristics": { "substance": "abstract", "origin": "conceptual", "agency": "inert" }, "whatYouCanDoWithIt": [ "observed and measured" ], "distinguishingFeatures": [ "Names folded into this entry, which a task may need to split apart again: osteogenesis imperfecta type 2, osteogenesis imperfecta type 13, osteogenesis imperfecta type 10, osteogenesis imperfecta type 15, osteogenesis imperfecta type 14, osteogenesis imperfecta type 6, osteogenesis imperfecta type 5, osteogenesis imperfecta type 9, osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures, osteogenesis imperfecta type 19, osteogenesis imperfecta type 20, osteogenesis imperfecta type 18.", "24 finer distinctions are held as aliases rather than separate entries, because telling them apart needs a task that asks for it.", "Described in 42 Wikipedia languages, which is a measure of how widely the thing is known, not of how important it is." ], "openQuestionsForResearch": [ "Which of the bundles below does a real task actually need, and which are ceremony?", "What does this thing have that the facets do not capture at all?", "Which neighbouring kind is most often confused with a osteogenesis imperfecta, and on what evidence are they told apart?" ], "whatItIsMadeOf": "an abstraction with no physical instance", "physicalCharacter": [ "Does nothing on its own; everything it does, something else did to it.", "These come from the domain this entry sits in rather than from the entry itself, so treat them as a first guess about the whole domain applied to one thing." ], "whatCanBeDoneWithIt": [ "observe it, measure it, record its state" ], "howItIsRecognised": [ "Nothing to see. What is recognised is an instance of it, and which instances count is exactly what is argued about." ], "relatedModels": [ { "relation": "covers", "note": "Finer kinds folded into this entry because telling them apart needs a task that asks for it. Each is a model waiting to be split out when one does.", "targets": [ "osteogenesis imperfecta type 2", "osteogenesis imperfecta type 13", "osteogenesis imperfecta type 10", "osteogenesis imperfecta type 15", "osteogenesis imperfecta type 14", "osteogenesis imperfecta type 6", "osteogenesis imperfecta type 5", "osteogenesis imperfecta type 9", "osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures", "osteogenesis imperfecta type 19", "osteogenesis imperfecta type 20", "osteogenesis imperfecta type 18" ] } ], "standing": "Described in 42 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is. 24 finer distinctions are held inside this entry as names rather than as separate models.", "structure": { "bundles": [ { "id": "identity-and-classification", "name": "Identity, naming and classification", "description": "How an agent tells one osteogenesis imperfecta from another, and a osteogenesis imperfecta from things that resemble it.", "rationale": "Recognition comes before every other claim. Without stable identity nothing else in the model can be trusted to be about the same thing twice.", "layers": [ { "id": "naming-and-identifiers", "name": "Names and identifiers", "description": "The names this thing goes by and the identifiers that survive translation and time.", "findings": [ { "id": "preferred-name-and-aliases", "name": "Preferred name, aliases and local names", "description": "Which name to use, which names mean the same thing, and which merely sound similar.", "questions": [ { "id": "preferred-name-and-aliases-q01", "text": "What identifies and describes the name of a osteogenesis imperfecta, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "preferred-name-and-aliases-q02", "text": "Who or what asserted this about the name of a osteogenesis imperfecta, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "preferred-name-and-aliases-q03", "text": "What may an agent decide or do once the name of a osteogenesis imperfecta is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] }, { "id": "stable-identifiers", "name": "Stable identifiers and external keys", "description": "Identifiers that keep pointing at this kind of thing across systems and languages.", "questions": [ { "id": "stable-identifiers-q01", "text": "What identifies and describes an identifier for a osteogenesis imperfecta, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "stable-identifiers-q02", "text": "Who or what asserted this about an identifier for a osteogenesis imperfecta, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "stable-identifiers-q03", "text": "What may an agent decide or do once an identifier for a osteogenesis imperfecta is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "classification-and-granularity", "name": "Classification and granularity", "description": "Where a osteogenesis imperfecta sits among kinds, and how finely a task needs to cut it.", "findings": [ { "id": "kind-and-parents", "name": "Kind, parents and neighbouring kinds", "description": "The classes this thing belongs to and the ones it is next to.", "questions": [ { "id": "kind-and-parents-q01", "text": "What identifies and describes the kind of a osteogenesis imperfecta, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "kind-and-parents-q02", "text": "Who or what asserted this about the kind of a osteogenesis imperfecta, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "kind-and-parents-q03", "text": "What may an agent decide or do once the kind of a osteogenesis imperfecta is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] }, { "id": "distinguishing-features", "name": "Distinguishing features", "description": "What separates a osteogenesis imperfecta from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a osteogenesis imperfecta, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "distinguishing-features-q02", "text": "Who or what asserted this about what distinguishes a osteogenesis imperfecta, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "distinguishing-features-q03", "text": "What may an agent decide or do once what distinguishes a osteogenesis imperfecta is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] }, { "id": "state-and-lifecycle", "name": "State and lifecycle", "description": "The states a osteogenesis imperfecta passes through and the events that move it between them.", "rationale": "Most decisions about a thing depend on what state it is in now, which is a claim with a time on it, not a property.", "layers": [ { "id": "lifecycle-stages", "name": "Lifecycle stages", "description": "From coming into existence to ceasing to be one of these.", "findings": [ { "id": "stages-and-transitions", "name": "Stages and transitions", "description": "The stages worth naming and what moves a osteogenesis imperfecta between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a osteogenesis imperfecta, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "stages-and-transitions-q02", "text": "Who or what asserted this about the lifecycle of a osteogenesis imperfecta, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "stages-and-transitions-q03", "text": "What may an agent decide or do once the lifecycle of a osteogenesis imperfecta is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "observations-and-status", "name": "Observations and current status", "description": "What is observed about a osteogenesis imperfecta, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a osteogenesis imperfecta is recorded so that it can be superseded rather than overwritten.", "questions": [ { "id": "observation-record-q01", "text": "What identifies and describes an observation of a osteogenesis imperfecta, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "observation-record-q02", "text": "Who or what asserted this about an observation of a osteogenesis imperfecta, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "observation-record-q03", "text": "What may an agent decide or do once an observation of a osteogenesis imperfecta is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] }, { "id": "definitions-in-contest", "name": "Definitions and who holds them", "description": "What osteogenesis imperfecta is taken to mean, and by whom.", "rationale": "When a field disagrees about a concept, the disagreement is the content. A model that picks one definition silently destroys the information.", "layers": [ { "id": "competing-definitions", "name": "Competing definitions", "description": "The main readings and the traditions behind them.", "findings": [ { "id": "definition-map", "name": "Definitions and their holders", "description": "Each definition with the school or body that holds it.", "questions": [ { "id": "definition-map-q01", "text": "Which definitions of osteogenesis imperfecta are in use, and which tradition or body holds each?", "kind": "definition" }, { "id": "definition-map-q02", "text": "What turns on the difference between them in practice?", "kind": "boundary" } ] } ] }, { "id": "operationalisation", "name": "Operationalisation", "description": "How it is measured or applied when it has to be.", "findings": [ { "id": "operational-record", "name": "Measures and proxies", "description": "Instruments and indicators used to stand in for it.", "questions": [ { "id": "operational-record-q01", "text": "How is osteogenesis imperfecta operationalised or measured in practice, and by what instrument?", "kind": "measurement" }, { "id": "operational-record-q02", "text": "What does that operationalisation leave out, and when does that matter?", "kind": "boundary" } ] } ] } ] }, { "id": "instances-and-use", "name": "Instances, use and consequence", "description": "What counts as an instance of osteogenesis imperfecta and what follows from calling something that.", "rationale": "Applying a concept is an act with consequences, so a model must say what the label licenses and what it does not.", "layers": [ { "id": "instances", "name": "What counts as an instance", "description": "Clear cases, borderline cases and non-cases.", "findings": [ { "id": "instance-tests", "name": "Tests for an instance", "description": "What would settle whether something falls under it.", "questions": [ { "id": "instance-tests-q01", "text": "What would settle whether something is an instance of osteogenesis imperfecta?", "kind": "boundary" }, { "id": "instance-tests-q02", "text": "Which borderline cases are argued about, and on what grounds?", "kind": "definition" } ] } ] }, { "id": "consequence", "name": "Consequence of application", "description": "Rights, duties or decisions that follow from the label.", "findings": [ { "id": "consequence-record", "name": "What the label licenses", "description": "What an agent may do once something is classified this way.", "questions": [ { "id": "consequence-record-q01", "text": "What follows practically once something is treated as osteogenesis imperfecta?", "kind": "action" }, { "id": "consequence-record-q02", "text": "What must an agent not infer from the label alone?", "kind": "action" } ] } ] } ] }, { "id": "provenance-and-evidence", "name": "Provenance, evidence and time", "description": "Where every claim about a osteogenesis imperfecta came from and when it held.", "rationale": "A claim without a source and a time cannot be superseded, only overwritten, and an agent that overwrites loses the ability to explain itself.", "layers": [ { "id": "source-and-authority", "name": "Source and authority", "description": "Who said it, on what evidence, and how strongly.", "findings": [ { "id": "claim-provenance", "name": "Claim provenance and confidence", "description": "The authority behind each claim about a osteogenesis imperfecta and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a osteogenesis imperfecta, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "claim-provenance-q02", "text": "Who or what asserted this about a claim about a osteogenesis imperfecta, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "claim-provenance-q03", "text": "What may an agent decide or do once a claim about a osteogenesis imperfecta is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] }, { "id": "time-and-versions", "name": "Time, versions and supersession", "description": "When a claim was true, when it was learnt, and what replaced it.", "findings": [ { "id": "validity-and-supersession", "name": "Validity period and supersession", "description": "How an old claim about a osteogenesis imperfecta is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a osteogenesis imperfecta, and in what units or vocabulary?", "kind": "definition", "answer_data": [ "identifiers", "types and classes", "values with units", "explicit unknowns" ] }, { "id": "validity-and-supersession-q02", "text": "Who or what asserted this about the validity of a claim about a osteogenesis imperfecta, by which method, and when was it true?", "kind": "provenance", "answer_data": [ "authority", "method", "evidence", "event time", "knowledge time" ] }, { "id": "validity-and-supersession-q03", "text": "What may an agent decide or do once the validity of a claim about a osteogenesis imperfecta is known, and what must it refuse?", "kind": "action", "answer_data": [ "permitted actions", "preconditions", "refusals", "escalation" ] } ] } ] } ] } ] }, "statistics": { "bundles": 5, "layers": 10, "findings": 12, "questions": 32 } } } }