autosomal recessive disease
Let an agent explain autosomal recessive inheritance accurately, give only general information, and direct individuals to genetic counselling.
Research draft, second pass
A second pass drafted this model: the structure a model of this thing needs, and what is known about it in the world. The line under this one says how the second half was obtained - researched against sources, or recalled without web access, in which case nothing here was read anywhere and every claim is a lead to verify. Unreviewed either way.
Researched by: Claude
Bundle → Layer → Finding → Questions Filled
4 bundles · 8 layers · 8 findings · 16 questions
Inheritance How it is passed on.
Pattern
Recessive inheritance.
Pattern
Inheritance pattern.
- How is it inherited? definition
- What is the risk for siblings? measurement
Carriers
Unaffected carriers.
Carriers
Carrier status.
- What does being a carrier mean? definition
- How is carrier status tested? action
Diagnosis Testing.
Testing
Genetic tests.
Testing
Tests available.
- Which tests confirm the diagnosis? provenance
- Who orders them? action
Screening
Newborn and carrier.
Screening
Screening programmes.
- Is it included in newborn screening here? provenance
- Is carrier screening offered? provenance
Care Management and support.
Management
Specialist care.
Management
Care guidance.
- What do guidelines recommend for this specific disease? provenance
- Which specialist centres exist? provenance
Support
Families.
Support
Support groups.
- Which patient organisations help? action
- How can families connect? action
Handling Advice and privacy.
Counselling
Professional advice.
Counselling
Referral.
- Should the person see a genetic counsellor? action
- What can be said in general terms? boundary
Privacy
Family data.
Privacy
Data protection.
- Is genetic data being shared lawfully? boundary
- Which relatives are affected? boundary
Classifiers Filled
- Family
- Thing Registry
- Category
- Cross-cutting context
- Entry kind
- thing
- Plane
- XCT
- Domain
- XCT.STA
- Other names and narrower kinds
- autosomal recessive isolated ectopia lentis 2, familial erythrocytosis 2, mosaic variegated aneuploidy syndrome 3, mosaic variegated aneuploidy syndrome 1, autosomal recessive Kenny-Caffey syndrome, fetal akinesia deformation sequence syndrome 4, fetal akinesia deformation sequence syndrome 2, fetal akinesia deformation sequence syndrome 1, fetal akinesia deformation sequence syndrome 3, acute infantile liver failure-multisystemic involvement syndrome, alopecia-mental retardation syndrome 1, alopecia-mental retardation syndrome 4
What it is Filled
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.
Why it exists Filled
Let an agent explain autosomal recessive inheritance accurately, give only general information, and direct individuals to genetic counselling.
Distinguishing features Filled
- Two altered copies needed
- Carriers are usually unaffected
- More common where partners are related
- Includes many rare diseases
What robots and AI may and may not do Filled
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.
Only with a human decision
- Interpreting genetic test results for a person.
May
- Explain how autosomal recessive inheritance works from medical sources.
- Suggest genetic counselling to people asking about their risk.
Moral aspects Filled
- Carrier screening raises questions of consent and reproductive choice.
- Communities with high carrier rates face stigma.
Who is affected
- Affected people and families
- Carriers
- Communities with high carrier rates
Owners Filled
Steward
Nobody owns a disease; clinicians and genetic services diagnose it.
Master systems
- Rare disease registries
Links to other meta-models Filled
parent
- Q18553442 - registry parent class
related
- disease - genetic disease
- mutation - variants
- ICD-11, OMIM and Orphanet - codes
- syndrome - many are syndromes
What else AI and robots need to interact with it Filled
Identity and identifiers required Filled
- Vercy registry: vr.tr.autosomal-recessive-disease
- Wikidata: Q10267817 (https://www.wikidata.org/wiki/Q10267817)
- OMIM number: six digits genetic conditions
- ORPHAcode: numeric rare diseases
Direct properties not applicable Not applicable
- recurrence risk for carrier couples: 25 percent per pregnancy - classic Mendelian expectation
Plane XCT: no invented physical properties.
Recognition optional Filled
- Diagnosis requires genetic testing
- Family pattern: unaffected carrier parents
- Specific diseases are listed separately
- No single appearance; features depend on the specific disease.
Capabilities and actions required Filled
- diagnose it by genetic testing
- counsel families about recurrence risk
- screen carriers where offered
- support affected people
Hazards and failure modes required Filled
- Misstating recurrence risk
- Individual genetic advice without a counsellor
- Stigma for families
Standards and interfaces required Filled
- Genetic testing and counselling guidelines
- Genetic data protection law
- Newborn screening programmes
Context of use required Filled
- Naming an inheritance pattern shared by many rare diseases, which guides testing and family counselling.
- metabolic disorders
- blood disorders
- neuromuscular disorders
- syndromic conditions
Sources Filled
- Wikidata item Q10267817: autosomal recessive disease - identity and sense of the item
- Wikipedia (pt): Doença autossômica recessiva - general description of the item
Open questions
- Should each recessive disease be linked to OMIM?
- How should agents signpost genetic counselling?
- How should carrier screening be described neutrally?
Machine files
Provenance
thing registry research (pass 2) · unreviewed
Built from: models/things/publications/thing-q10267817/spec.json