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All 45 benchmark tasks (types A/B/C/D/E/H), each with a real generated answer, abstention decision, and claim-level citation grading. Click any task ID for full detail — gold documents, retrieved documents, and every generated claim.
| Task | Type | Question | Abstained | Outcome | Claims (S/C/U) |
|---|---|---|---|---|---|
| A-001 | A | What is the characteristic clinical phenotype of fibrodysplasia ossificans progressiva? | No | Correct | 4/0/0 |
| A-002 | A | What are the defining neuroradiologic and clinical features of Alexander disease? | No | Correct | 6/0/0 |
| A-003 | A | What clinical and physical signs characterize alkaptonuria (ochronosis)? | No | Correct | 8/0/0 |
| A-004 | A | What organ systems and clinical signs are affected in classic Fabry disease? | No | Correct | 1/4/0 |
| A-005 | A | What are the core motor, psychiatric, and cognitive symptoms of Huntington disease? | No | Correct | 2/0/0 |
| B-001 | B | Which gene is associated with fibrodysplasia ossificans progressiva, and what is the nature of the pathogenic variant? | No | Correct | 2/0/0 |
| B-002 | B | Which gene is mutated in Alexander disease? | No | Correct | 1/0/0 |
| B-003 | B | Which gene and enzyme deficiency cause alkaptonuria? | No | Correct | 1/1/0 |
| B-004 | B | Which gene is deficient in Fabry disease and what is the resulting enzyme? | No | Correct | 2/0/0 |
| B-005 | B | What genetic mutation causes Huntington disease and what is its molecular nature? | No | Correct | 3/0/0 |
| C-001 | C | What disease is caused by pathogenic variants in GFAP? | No | Correct | 1/0/0 |
| C-002 | C | What disease results from activating mutations in ACVR1 (ALK2)? | No | Correct | 1/0/0 |
| D-001 | D | By what molecular mechanism does the ACVR1 mutation in fibrodysplasia ossificans progressiva lead to heterotopic ossification? | No | Correct | 3/0/0 |
| D-002 | D | What is the proposed cellular mechanism linking GFAP mutation to astrocyte dysfunction in Alexander disease? | No | Correct | 4/0/0 |
| D-003 | D | What is the biochemical mechanism by which HGD deficiency produces the ochronotic pigment seen in alkaptonuria? | No | Correct | 3/0/0 |
| D-004 | D | By what mechanism does alpha-galactosidase A deficiency lead to multisystem damage in Fabry disease? | No | Correct | 3/0/0 |
| D-005 | D | How does CAG repeat expansion in the HTT gene lead to neurodegeneration in Huntington disease? | No | Correct | 5/0/0 |
| E-001 | E | How is fibrodysplasia ossificans progressiva distinguished from myositis ossificans, given that literature and nomenclature for the two overlap? | Yes | Incorrect | 0/0/0 |
| H-001 | H | What is the FDA-approved dosing regimen for palovarotene in the treatment of fibrodysplasia ossificans progressiva? | Yes | Correct | 0/0/0 |
| H-002 | H | Does avalglucosidase alfa show superior efficacy over alglucosidase alfa in Pompe disease based on head-to-head trial evidence? | No | Incorrect | 1/0/0 |
| H-003 | H | What clinical trial evidence exists for migalastat as a pharmacological chaperone therapy for Fabry disease? | No | Incorrect | 2/0/0 |
| H-004 | H | What clinical trial evidence exists for the antisense oligonucleotide zilganersen in Alexander disease? | No | Incorrect | 1/0/0 |
| H-005 | H | Is there CRISPR-based gene-editing evidence for treating alkaptonuria in the indexed corpus? | Yes | Correct | 0/0/0 |
| A-006 | A | What is the characteristic clinical phenotype of osteogenesis imperfecta? | No | Correct | 5/0/0 |
| A-007 | A | What is the characteristic clinical presentation and course of Rett syndrome? | No | Correct | 5/0/0 |
| A-008 | A | What are the core clinical features of Angelman syndrome? | No | Correct | 6/0/4 |
| A-009 | A | What is the clinical presentation of infantile Krabbe disease? | No | Correct | 4/0/0 |
| A-010 | A | What are the distinctive clinical features of cri-du-chat syndrome? | No | Correct | 9/0/0 |
| B-006 | B | Which gene is primarily responsible for osteogenesis imperfecta, and what protein does it encode? | Yes | Incorrect | 0/0/0 |
| B-007 | B | Which gene is most commonly mutated in Rett syndrome? | No | Correct | 2/0/0 |
| B-008 | B | Which gene's loss of function causes Angelman syndrome, and what is notable about its inheritance pattern? | No | Correct | 2/0/0 |
| B-009 | B | Which gene is deficient in Krabbe disease and what enzyme does it encode? | No | Correct | 2/0/0 |
| B-010 | B | Which gene is mutated in Menkes disease and what is its normal function? | No | Correct | 2/0/0 |
| C-003 | C | What disease results from loss of function of the maternal UBE3A allele? | No | Correct | 1/0/0 |
| C-004 | C | What disease is caused by mutations in the copper-transporting ATPase gene ATP7A? | No | Correct | 1/0/0 |
| D-006 | D | By what mechanism do type I collagen gene mutations lead to the bone fragility seen in osteogenesis imperfecta? | No | Correct | 4/0/0 |
| D-007 | D | What is the proposed molecular mechanism by which MECP2 dysfunction causes the neurological features of Rett syndrome? | No | Correct | 3/0/0 |
| D-008 | D | Why does Angelman syndrome result specifically from loss of the MATERNAL UBE3A allele rather than either parental copy? | No | Correct | 1/2/0 |
| D-009 | D | By what biochemical mechanism does GALC deficiency lead to demyelination in Krabbe disease? | No | Correct | 3/0/0 |
| D-010 | D | How does ATP7A dysfunction lead to the neurodegeneration and connective tissue abnormalities seen in Menkes disease? | No | Correct | 4/0/0 |
| H-006 | H | What clinical trial evidence exists for setrusumab as a treatment for osteogenesis imperfecta? | Yes | Correct | 0/0/0 |
| H-007 | H | What clinical trial evidence exists for gaboxadol (OV101) in Angelman syndrome? | Yes | Correct | 0/0/0 |
| H-008 | H | What is the evidence for trofinetide as a treatment for Rett syndrome? | Yes | Correct | 0/0/0 |
| H-009 | H | What clinical trial evidence exists for atidarsagene autotemcel (Lenmeldy) gene therapy in metachromatic leukodystrophy? | No | Incorrect | 2/1/0 |
| H-010 | H | What evidence exists for the investigational gene therapy PBGM01 in Krabbe disease? | No | Incorrect | 2/1/0 |
Showing 45 of 45 tasks. Claims column: supported / contradicted / unverifiable, from claim-level citation grading.