subject_id stringlengths 6 6 | condition_name stringlengths 12 37 | age_at_onset int64 0 45 | genetic_marker stringlengths 11 16 | symptom_severity_index float64 3.2 9.8 | treatment_response_rate float64 0.05 0.92 | last_follow_up stringdate 2025-04-10 00:00:00 2025-07-20 00:00:00 | comorbidity_presence bool 2
classes | plasma_biomarker_pgml float64 12.5 4.5k | clinical_trial_phase stringclasses 5
values |
|---|---|---|---|---|---|---|---|---|---|
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 | 1,100.5 | 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 | 1,540.3 | Phase_II |
RD_910 | Ehlers_Danlos_Vascular | 18 | COL3A1_Variant | 7.2 | 0.3 | 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 | 4,500.8 | Phase_III |
RD_915 | Tay_Sachs_Disease | 1 | HEXA_Deficiency | 9.7 | 0.05 | 2025-05-25 | true | 1,800.2 | 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 | 0.4 | 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 | 0.7 | 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 | 0.1 | 2025-05-08 | true | 910.4 | Phase_I |
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