| subject_id,condition_name,age_at_onset,genetic_marker,symptom_severity_index,treatment_response_rate,last_follow_up,comorbidity_presence,plasma_biomarker_pgml,clinical_trial_phase | |
| RD_901,Fibrodysplasia Ossificans Progressiva,4,ACVR1_Mutation,8.2,0.15,2025-06-12,TRUE,450.2,Phase_II | |
| RD_902,Huntington_Disease_Like_2,32,JPH3_Repeat,6.5,0.42,2025-05-30,FALSE,120.5,Phase_I | |
| RD_903,Alkaptonuria,22,HGD_Deficiency,4.1,0.85,2025-07-01,TRUE,890.1,Phase_III | |
| RD_904,Gaucher_Disease_Type_III,12,GBA_Mutation,7.8,0.66,2025-06-15,TRUE,310.4,Observational | |
| RD_905,Paroxysmal_Nocturnal_Hemoglobinuria,28,PIGA_Somatic,5.2,0.92,2025-04-20,FALSE,55.8,Marketed | |
| RD_906,Wolman_Disease,1,LIPA_Mutation,9.5,0.25,2025-07-10,TRUE,1100.5,Phase_II | |
| RD_907,Sanfilippo_Syndrome_Type_A,3,SGSH_Deficiency,8.9,0.38,2025-05-22,TRUE,720.2,Phase_I | |
| RD_908,Pompe_Disease_Late_Onset,45,GAA_Mutation,3.8,0.74,2025-06-05,FALSE,210.9,Marketed | |
| RD_909,Krabbe_Disease_Infantile,0,GALC_Mutation,9.8,0.12,2025-06-28,TRUE,1540.3,Phase_II | |
| RD_910,Ehlers_Danlos_Vascular,18,COL3A1_Variant,7.2,0.30,2025-07-05,TRUE,45.2,Observational | |
| RD_911,Niemann_Pick_Type_C,9,NPC1_Mutation,6.1,0.55,2025-05-18,TRUE,280.6,Phase_III | |
| RD_912,Maple_Syrup_Urine_Disease,0,BCKDHB_Mutation,8.5,0.88,2025-04-30,FALSE,640.1,Marketed | |
| RD_913,Stargardt_Disease,14,ABCA4_Variant,4.5,0.48,2025-06-12,FALSE,12.5,Phase_II | |
| RD_914,Duchenne_Muscular_Dystrophy,5,DMD_Deletion,7.9,0.51,2025-07-08,TRUE,4500.8,Phase_III | |
| RD_915,Tay_Sachs_Disease,1,HEXA_Deficiency,9.7,0.05,2025-05-25,TRUE,1800.2,Phase_I | |
| RD_916,Fabry_Disease,25,GLA_Mutation,4.2,0.91,2025-06-14,TRUE,95.4,Marketed | |
| RD_917,Batten_Disease_CLN3,7,CLN3_Mutation,8.4,0.22,2025-07-15,TRUE,520.5,Phase_II | |
| RD_918,Cystinosis_Nephropathic,2,CTNS_Mutation,6.8,0.82,2025-04-12,TRUE,310.2,Marketed | |
| RD_919,Zellweger_Spectrum_Disorder,0,PEX1_Mutation,9.6,0.18,2025-06-20,TRUE,880.9,Observational | |
| RD_920,Lesch_Nyhan_Syndrome,1,HPRT1_Deficiency,7.5,0.35,2025-05-05,TRUE,410.6,Phase_I | |
| RD_921,Achondroplasia,0,FGFR3_Mutation,3.2,0.79,2025-07-12,FALSE,62.1,Marketed | |
| RD_922,Wilson_Disease,16,ATP7B_Mutation,5.4,0.86,2025-06-08,TRUE,145.2,Marketed | |
| RD_923,Adrenoleukodystrophy_X_Linked,8,ABCD1_Variant,8.1,0.62,2025-07-02,TRUE,740.5,Phase_III | |
| RD_924,Angelman_Syndrome,2,UBE3A_Deletion,6.9,0.40,2025-05-15,TRUE,25.4,Phase_II | |
| RD_925,Fragile_X_Syndrome,3,FMR1_Expansion,5.8,0.45,2025-06-25,FALSE,18.2,Observational | |
| RD_926,Prader_Willi_Syndrome,1,15q_Deletion,4.9,0.70,2025-04-10,TRUE,110.4,Marketed | |
| RD_927,Mucopolysaccharidosis_Type_I,4,IDUA_Deficiency,7.4,0.78,2025-07-18,TRUE,620.8,Marketed | |
| RD_928,Rett_Syndrome,2,MECP2_Mutation,8.3,0.32,2025-05-12,TRUE,34.5,Phase_III | |
| RD_929,Friedreich_Ataxia,13,FXN_Expansion,6.2,0.28,2025-06-30,TRUE,88.2,Phase_II | |
| RD_930,Smith_Lemli_Opitz_Syndrome,0,DHCR7_Mutation,7.1,0.65,2025-07-20,TRUE,52.1,Marketed | |
| RD_931,Canavan_Disease,0,ASPA_Deficiency,9.4,0.10,2025-05-08,TRUE,910.4,Phase_I |