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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