{"id":"W1990442073","doi":"10.1186/1750-1172-7-22","title":"Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure","year":2012,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto; University of British Columbia","funders":"lékařská fakulta Univerzity Karlovy; School of Medicine, New York University; Mackay Memorial Hospital; University of Toronto; Sanofi Genzyme; Università degli Studi di Padova; Hospital for Sick Children; York University; Univerzita Karlova v Praze","keywords":"Mucopolysaccharidosis type I; Mucopolysaccharidosis I; Enzyme replacement therapy; Phenotype; Medicine; Mucopolysaccharidosis; Genetic heterogeneity; Internal medicine; Genetics; Biology; Disease","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002919072,0.0001226702,0.0003152174,0.0002780553,0.00002316426,0.00001411763,0.0002005421,0.00005973148,0.0001495196],"category_scores_gemma":[0.001053839,0.00009955738,0.000117661,0.0001630356,0.00008500092,0.0002713809,0.0000447696,0.0002085535,0.000006098408],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001089676,"about_ca_system_score_gemma":0.0002492245,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005026338,"about_ca_topic_score_gemma":0.00003237425,"domain_scores_codex":[0.9983506,0.0001005937,0.0005252194,0.0001240843,0.0006252663,0.0002742327],"domain_scores_gemma":[0.9986988,0.00008635356,0.0003034586,0.0001736207,0.000345353,0.0003923992],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.008460125,0.002269543,0.9747118,0.0002893266,0.0002320239,0.0008935321,0.0008870222,0.0001449869,0.004789884,0.00002594528,0.001125906,0.006169894],"study_design_scores_gemma":[0.00660405,0.0005173638,0.9806908,0.0004116238,0.0001171391,0.001144345,0.0008662815,0.0001350895,0.008230751,0.00006546412,0.001065121,0.0001519875],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951974,0.003551457,0.000003933804,0.0003615941,0.0001934348,0.0001677802,0.0001151567,0.000007459909,0.000401828],"genre_scores_gemma":[0.9990524,0.00008801941,0.0003281801,0.00006949207,0.0003412041,0.000002612192,0.00004616805,0.00001676621,0.00005515287],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006017907,"threshold_uncertainty_score":0.4059832,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02918659602130732,"score_gpt":0.3198607106483671,"score_spread":0.2906741146270598,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}