{ "model": { "rank": 17814, "code": "thing-q845779", "model_id": "vr.tr.fanconi-anemia", "name": "Fanconi anemia", "purpose": "Let an agent explain Fanconi anaemia and its genetics, relay features, diagnosis, treatment and surveillance from haematology and genetics guidelines in general terms, route affected families to specialists and patient organisations, and distinguish Fanconi anaemia from Fanconi syndrome of the kidney and from other bone marrow failure syndromes.", "family": "Thing Registry", "category": "Cross-cutting context", "status": "research-draft", "kind": "thing", "plane": "XCT", "domain": "XCT.STA", "industry": "", "version": "", "url": "/models/thing/q845779/", "tier": 2, "score": 30, "payload": { "layer": "wikidata", "aliases": [ "Fanconi anemia complementation group V", "Fanconi anemia complementation group T", "Fanconi anemia complementation group L", "Fanconi anemia complementation group D2", "Fanconi anemia complementation group E", "Fanconi anemia complementation group U", "Fanconi anemia complementation group G", "Fanconi anemia complementation group C", "Fanconi anemia complementation group F", "Fanconi anemia complementation group D1", "Fanconi anemia complementation group R", "Fanconi anemia complementation group I", "Fanconi anemia complementation group P", "Fanconi anemia complementation group Q", "Fanconi anemia complementation group N", "Fanconi anemia complementation group A", "Fanconi anemia complementation group O", "Fanconi anemia complementation group J", "Fanconi anemia complementation group B" ], "aliasCount": 19, "merged": 19, "knownIn": 30, "facets": null, "markers": [], "lexicalClass": "", "senseRank": null, "alsoRegisteredAs": null, "source": { "dataset": "wikidata", "item": "Q845779", "url": "https://www.wikidata.org/wiki/Q845779", "license": "CC0 1.0" } }, "research": { "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-13T13:48:29Z", "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" }, "metaModel": { "id": "THING-Q845779", "registryId": "vr.tr.fanconi-anemia", "name": "Fanconi anemia", "version": "0.2.0-wave.4", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q845779/", "model": { "registry_id": "vr.tr.fanconi-anemia", "name": "Fanconi anemia", "purpose": "Let an agent explain Fanconi anaemia and its genetics, relay features, diagnosis, treatment and surveillance from haematology and genetics guidelines in general terms, route affected families to specialists and patient organisations, and distinguish Fanconi anaemia from Fanconi syndrome of the kidney and from other bone marrow failure syndromes.", "definition": "A rare inherited disorder of DNA repair causing bone marrow failure, physical abnormalities and a high risk of leukaemia and solid cancers, caused by mutations in any of more than twenty genes that define complementation groups such as A, C, D2, E, L, T and U, with most cases autosomal recessive; treatment includes stem cell transplantation and cancer surveillance, and affected families should be under specialist care.", "what_it_is_for": "Not applicable; a disease.", "affordances": [ "explain genetics and features", "relay diagnosis and treatment", "route to specialists", "distinguish related conditions" ], "distinguishing_features": [ "DNA repair defect", "Marrow failure", "Cancer predisposition", "Many complementation groups" ], "appearance": "Not a visible object; short stature, skin and thumb abnormalities in many cases.", "visual_identification": [ "Inherited DNA repair disorder with marrow failure", "Complementation groups A, C, D2, E, L, T, U and others", "Fanconi syndrome is a kidney tubule disorder; other marrow failure syndromes have different genes" ], "physical_properties": [ { "quantity": "incidence", "typical_range": "about 1 in 130000", "unit": "births", "note": "" }, { "quantity": "known genes", "typical_range": "over 20", "unit": "count", "note": "" }, { "quantity": "most common group", "typical_range": "FANCA, about 60 percent", "unit": "note", "note": "" }, { "quantity": "described by", "typical_range": "Guido Fanconi, 1927", "unit": "note", "note": "" } ], "families_and_kinds": [ "complementation group A and other common groups", "groups such as D2, E, L, T, U and V", "X-linked and dominant forms", "Fanconi anaemia with and without physical abnormalities", "adult-diagnosed cases" ], "related_models": [ { "relation": "is a kind of", "target": "congenital hypoplastic anemia", "why": "in registry terms" }, { "relation": "is a kind of", "target": "bone marrow failure syndrome", "why": "in general terms" }, { "relation": "is caused by defects in", "target": "DNA repair", "why": "the Fanconi pathway" }, { "relation": "is contrasted with", "target": "Fanconi syndrome", "why": "a kidney disorder" } ], "identifiers": [ { "scheme": "ICD-10", "value_or_pattern": "D61.0", "note": "constitutional aplastic anaemia" }, { "scheme": "OMIM", "value_or_pattern": "227650", "note": "Fanconi anemia complementation group A" }, { "scheme": "MeSH", "value_or_pattern": "D005199", "note": "Fanconi Anemia" } ], "standards_and_regulation": [ "Fanconi Anemia Research Fund clinical care guidelines", "Genetic testing and counselling standards", "Transplant centre accreditation" ], "failure_modes_and_hazards": [ "Delayed diagnosis", "Agents giving personal medical advice", "Confusing with Fanconi syndrome" ], "in_scope": [], "out_of_scope": [], "characteristics": [] }, "sources": [], "structure": { "bundles": [ { "id": "understand", "name": "Understand", "description": "What Fanconi anaemia is.", "rationale": "Clinical.", "layers": [ { "id": "definition", "name": "Definition", "description": "Definition and features.", "findings": [ { "id": "definition-finding", "name": "Definition", "description": "Definition.", "questions": [ { "text": "What is Fanconi anaemia, what are its features, and how does it differ from Fanconi syndrome and other marrow failure syndromes?", "kind": "definition" }, { "text": "Is the user asking about their own or a family member s diagnosis, which needs a specialist?", "kind": "boundary" } ] } ] }, { "id": "genetics", "name": "Genetics", "description": "Genetics.", "findings": [ { "id": "genetics-finding", "name": "Genetics", "description": "Genetics.", "questions": [ { "text": "How do the Fanconi genes and complementation groups cause the disorder, and how is it inherited, in general terms?", "kind": "provenance" }, { "text": "Which entry fits the specific group?", "kind": "action" } ] } ] } ] }, { "id": "care", "name": "Care", "description": "Diagnosis and treatment.", "rationale": "Clinical.", "layers": [ { "id": "diagnosis", "name": "Diagnosis", "description": "Diagnosis.", "findings": [ { "id": "diagnosis-finding", "name": "Diagnosis", "description": "Diagnosis.", "questions": [ { "text": "How is Fanconi anaemia diagnosed with chromosome breakage tests and genetics, as guidelines describe?", "kind": "provenance" }, { "text": "Which references are standard?", "kind": "provenance" } ] } ] }, { "id": "treatment", "name": "Treatment", "description": "Treatment and surveillance.", "findings": [ { "id": "treatment-finding", "name": "Treatment", "description": "Treatment.", "questions": [ { "text": "What do guidelines recommend for marrow failure, transplantation and cancer surveillance, in general terms?", "kind": "provenance" }, { "text": "Which sources are cited?", "kind": "provenance" } ] } ] } ] }, { "id": "support", "name": "Support", "description": "Living with the condition.", "rationale": "Application.", "layers": [ { "id": "organisations", "name": "Organisations", "description": "Organisations.", "findings": [ { "id": "organisations-finding", "name": "Organisations", "description": "Organisations.", "questions": [ { "text": "Where can families find Fanconi anaemia organisations, registries and trials?", "kind": "action" }, { "text": "Which entry fits Fanconi Anemia Research Fund?", "kind": "action" } ] } ] }, { "id": "counselling", "name": "Counselling", "description": "Genetic counselling.", "findings": [ { "id": "counselling-finding", "name": "Counselling", "description": "Counselling.", "questions": [ { "text": "What does genetic counselling involve for affected families, in general terms?", "kind": "provenance" }, { "text": "Is the user seeking personal counselling, which needs a professional?", "kind": "boundary" } ] } ] } ] }, { "id": "context", "name": "Context", "description": "Research and history.", "rationale": "Context.", "layers": [ { "id": "research", "name": "Research", "description": "Research.", "findings": [ { "id": "research-finding", "name": "Research", "description": "Research.", "questions": [ { "text": "What research addresses gene therapy and the Fanconi pathway in cancer, with findings attributed?", "kind": "provenance" }, { "text": "Which entry fits DNA repair?", "kind": "action" } ] } ] }, { "id": "history", "name": "History", "description": "History.", "findings": [ { "id": "history-finding", "name": "History", "description": "History.", "questions": [ { "text": "How did Fanconi describe the disorder, and how were the genes discovered?", "kind": "provenance" }, { "text": "Which entry fits the history of medical genetics?", "kind": "action" } ] } ] } ] } ] }, "openQuestions": [ "Should the complementation groups be separate entries?", "How should guideline sources be linked?", "The registry entry has merged aliases naming complementation groups; 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 Fanconi anemia, record what state it is in, and decide what may be done with it.", "whatItIs": "Let an agent explain Fanconi anaemia and its genetics, relay features, diagnosis, treatment and surveillance from haematology and genetics guidelines in general terms, route affected families to specialists and patient organisations, and distinguish Fanconi anaemia from Fanconi syndrome of the kidney and from other bone marrow failure syndromes.", "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: Fanconi anemia complementation group V, Fanconi anemia complementation group T, Fanconi anemia complementation group L, Fanconi anemia complementation group D2, Fanconi anemia complementation group E, Fanconi anemia complementation group U, Fanconi anemia complementation group G, Fanconi anemia complementation group C, Fanconi anemia complementation group F, Fanconi anemia complementation group D1, Fanconi anemia complementation group R, Fanconi anemia complementation group I.", "19 finer distinctions are held as aliases rather than separate entries, because telling them apart needs a task that asks for it.", "Described in 30 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 Fanconi anemia, 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": [ "Fanconi anemia complementation group V", "Fanconi anemia complementation group T", "Fanconi anemia complementation group L", "Fanconi anemia complementation group D2", "Fanconi anemia complementation group E", "Fanconi anemia complementation group U", "Fanconi anemia complementation group G", "Fanconi anemia complementation group C", "Fanconi anemia complementation group F", "Fanconi anemia complementation group D1", "Fanconi anemia complementation group R", "Fanconi anemia complementation group I" ] } ], "standing": "Described in 30 Wikipedia languages, which measures how widely it is written about rather than how important or how common it is. 19 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 Fanconi anemia from another, and a Fanconi anemia 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 Fanconi anemia, 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 Fanconi anemia, 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 Fanconi anemia 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 Fanconi anemia, 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 Fanconi anemia, 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 Fanconi anemia 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 Fanconi anemia 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 Fanconi anemia, 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 Fanconi anemia, 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 Fanconi anemia 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 Fanconi anemia from the things most often confused with it.", "questions": [ { "id": "distinguishing-features-q01", "text": "What identifies and describes what distinguishes a Fanconi anemia, 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 Fanconi anemia, 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 Fanconi anemia 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 Fanconi anemia 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 Fanconi anemia between them.", "questions": [ { "id": "stages-and-transitions-q01", "text": "What identifies and describes the lifecycle of a Fanconi anemia, 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 Fanconi anemia, 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 Fanconi anemia 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 Fanconi anemia, how often and by whom.", "findings": [ { "id": "observation-record", "name": "Observation record", "description": "How an observation of a Fanconi anemia 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 Fanconi anemia, 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 Fanconi anemia, 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 Fanconi anemia 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 Fanconi anemia 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 Fanconi anemia 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 Fanconi anemia 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 Fanconi anemia 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 Fanconi anemia?", "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 Fanconi anemia?", "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 Fanconi anemia 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 Fanconi anemia and how confident it is.", "questions": [ { "id": "claim-provenance-q01", "text": "What identifies and describes a claim about a Fanconi anemia, 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 Fanconi anemia, 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 Fanconi anemia 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 Fanconi anemia is retired without being erased.", "questions": [ { "id": "validity-and-supersession-q01", "text": "What identifies and describes the validity of a claim about a Fanconi anemia, 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 Fanconi anemia, 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 Fanconi anemia 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 } } } }