Other diseases

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Update : 2020.11.27

Name of diseases Patient No. *Terms Approval Form HPS References
Other diseases
1. Bardet-Biedl syndrome
Bardet-Biedl syndrome 1 HPS0156* HPS0157*
2. Congenital Neutropenia, Kostmann syndrome
Congenital Neutropenia, Kostmann syndrome 1 HPS0519 HPS0520 HPS0521 PMID: 23975175
3. Juvenile nephronophthisis
Juvenile nephronophthisis 1 Unnecessary HPS0446 HPS0447 HPS0448 PMID: 23193063
2 Unnecessary HPS0449 HPS0450 HPS0451 PMID: 23193063
4. Pendred Syndrome
Pendred Syndrome 1 HPS1744
2 Unnecessary HPS1778
3 Unnecessary HPS1779
5. Alzheimer’s disease
Alzheimer’s disease 1 HPS0254
HPS1746 PMID: 23434393 PMID: 29166618
2 HPS0255
3 HPS0256
4 HPS0257 PMID: 29166618
5 HPS0258 PMID: 23434393
6 HPS0259 PMID: 29166618
7 HPS0260
8 HPS0261
9 HPS0262
10 Unnecessary HPS0854 HPS0855 HPS0856 HPS0857 HPS0858 HPS0859
11 HPS1745
HPS1747 PMID: 29166618
12 HPS3829
13 HPS3830
14 HPS3831
15 HPS3832
16 HPS3833
17 HPS3854
Alzheimer’s disease , Familial type 1 HPS0363 PMID: 21900357
Alzheimer’s disease , Familial type 1 HPS0365 PMID: 21900357
6. Dementia of Alzheimer’s type
Dementia of Alzheimer’s type 1 HPS0060
Unnecessary HPS0812 HPS0813 HPS0814 HPS0815 HPS0816 HPS0817
7. Epilepsy
Epilepsy 1 HPS1728 HPS1729 HPS1730
2 HPS1731
3 HPS1732 HPS1733
4 HPS3815
5 HPS3816
6 HPS3817
Angelman syndrome, Epilepsy 1 HPS3660 PMID: 30605843
8. Age-related Macular Degeneration
Age-related Macular Degeneration 1 Unnecessary HPS0666 HPS0667 HPS0668 HPS0669 HPS0670 HPS0671
2 Unnecessary HPS0678 HPS0679 HPS0680 HPS0681 HPS0682 HPS0683
9. Bietti crystalline retinopathy
Bietti crystalline retinopathy 1 Unnecessary HPS0672 HPS0673 HPS0674 HPS0675 HPS0676 HPS0677
2 Unnecessary HPS0688 HPS0689 HPS0690 HPS0691 HPS0692 HPS0693 PMID: 29581279
3 Unnecessary HPS0694 HPS0695 HPS0696 HPS0697 HPS0698 HPS0699
4 Unnecessary HPS0700 HPS0701 HPS0702 HPS0703 HPS0704 HPS0705 PMID: 29581279
10. Morphea with autoimmune hepatitis
Morphea with autoimmune hepatitis 1 Unnecessary HPS1198 HPS1199 HPS1200 HPS1201 HPS1202 HPS1203
11. Rheumatoid Arthritis
Rheumatoid Arthritis 1 Unnecessary HPS0440 HPS0441 HPS0442 PMID: 23193063
HPS1078 HPS1079 HPS1080 HPS1081 HPS1082 HPS1083
2 Unnecessary HPS0443 HPS0444 HPS0445 PMID: 23193063
HPS1084 HPS1085 HPS1086 HPS1087 HPS1088 HPS1089
3 Unnecessary HPS1102 HPS1103 HPS1104 HPS1105 HPS1106 HPS1107
4 Unnecessary HPS1108 HPS1109 HPS1110 HPS1111 HPS1112 HPS1113
5 Unnecessary HPS1114 HPS1115 HPS1116 HPS1117 HPS1118 HPS1119
Rheumatoid Arthritis 1 Unnecessary HPS2610 HPS2611
12. Reducing body myopathy
Reducing body myopathy 1 HPS1014 HPS1015 HPS1016
2 HPS3961
13. Bernard-Soulier syndorome
Bernard-Soulier syndorome 1 HPS0078 HPS0191
14. Langerhans cell histiocytosis
Langerhans cell histiocytosis 1 Unnecessary HPS1204 HPS1205 HPS1206 HPS1207 HPS1208 HPS1209
2 Unnecessary HPS1252 HPS1253 HPS1254 HPS1255 HPS1256 HPS1257
15. Refractory nephrotic syndrome
Refractory nephrotic syndrome 1 Unnecessary HPS1186 HPS1187 HPS1188 HPS1189 HPS1190 HPS1191
2 Unnecessary HPS2262 HPS2263 HPS2264 HPS2265 HPS2266 HPS2267
16. Muro disease (Kii ALS/PDC)
Muro disease (Kii ALS/PDC) 1 Unnecessary HPS1742
2 Unnecessary HPS1780
3 Unnecessary HPS1781
17. RAS-associated autoimmune leukoproliferative disorder (RALD)
RAS-associated autoimmune leukoproliferative disorder (RALD) 1 HPS1792* HPS1793* HPS1794*
2 HPS1795* HPS1796* HPS1797* HPS1798*
18. Atopic dermatitis
Atopic dermatitis 1 HPS0270 HPS0271 HPS0272
19. Allergic rhinitis (Pollen allergy)
Allergic rhinitis (Pollen allergy) 1 HPS0192
20. Colorectal cancer
iPS-like cells derived from colorectal adenocarcinoma (DLD1) 1 HPS0112
Colorectal cancer (Sigmoid colon cancer) 1 HPS3537 HPS3538 HPS3539 HPS3540 HPS3541 HPS3542 HPS3543 HPS3544 HPS3545
HPS3546 HPS3547 HPS3548 HPS3549 HPS3550 HPS3551 HPS3552 HPS3553 HPS3554
2 HPS3556 HPS3557
21. Fulminant hepatitis
Fulminant hepatitis 1 HPS1813*
2 HPS3855*
3 HPS3856*
Fulminant hepatitis, hepatitis A 1 Unnecessary HPS3173 HPS3174 HPS3175 HPS3176 HPS3177 HPS3178
22. Familial atrial fibrillation / Sick sinus syndrome
Familial atrial fibrillation / Sick sinus syndrome 1 HPS1807
2 HPS1808
3 HPS3666
4 HPS3667
23. Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 1 HPS1809 HPS1810
24. Pancreatitis
Severe acute pancreatitis, acute exacerbation of chronic pancreatitis 1 Unnecessary HPS2762 HPS2763 HPS2764 HPS2765 HPS2766 HPS2767
Chronic pancreatitis 1 Unnecessary HPS2744 HPS2745 HPS2746 HPS2747 HPS2748 HPS2749
2 Unnecessary HPS3272 HPS3273 HPS3274 HPS3275 HPS3276 HPS3277
25. Myelodysplastic syndromes
Myelodysplastic syndromes 1 HPS1905
26. Lichen sclerosus et atrophicus
Lichen sclerosus et atrophicus 1 Unnecessary HPS1982 HPS1983 HPS1984 HPS1985 HPS1986 HPS1987
2 Unnecessary HPS2454 HPS2455 HPS2456 HPS2457 HPS2458 HPS2459
27.Protein S deficiency
Protein S deficiency 1 Unnecessary HPS2852 HPS2853 HPS2854 HPS2855 HPS2856 HPS2857
28. Intrahepatic stones
Intrahepatic stones 1 Unnecessary HPS2942 HPS2943
27. Secondary antiphospholipid syndrome
Secondary antiphospholipid syndrome 1 Unnecessary HPS3185 HPS3186 HPS3187 HPS3188 HPS3189 HPS3190
30. Ossification of anterior longitudinal ligament
Ossification of anterior longitudinal ligament 1 Unnecessary HPS2900 HPS2901 HPS2902 HPS2903 HPS2904 HPS2905
31. Primary aldosteronism
Primary aldosteronism 1 Unnecessary HPS2642 HPS2643 HPS2644 HPS2645 HPS2646 HPS2647
32. Guillain-Barré syndrome
Guillain-Barré syndrome 1 Unnecessary HPS2810 HPS2811 HPS2812 HPS2813 HPS2814 HPS2815
33.Diffuse panbronchiolitis
Diffuse panbronchiolitis 1 Unnecessary HPS3218 HPS3219 HPS3220 HPS3221 HPS3222 HPS3223
34. Myelofibrosis
Myelofibrosis, mutation in JAK2 1 Unnecessary HPS3215 HPS3216 HPS3217
35. Aicardi Goutiares syndrome
Aicardi Goutiares syndrome 1 Unnecessary HPS2556 HPS2557 HPS2558 HPS2559 HPS2560 HPS2561
36. Multiple endocrine neoplasia
Multiple endocrine neoplasia 1 Unnecessary HPS2568 HPS2569 HPS2570 HPS2571 HPS2572 HPS2573
37. Von Hippel-Lindau disease
Von Hippel-Lindau disease 1 Unnecessary HPS2574 HPS2575 HPS2576 HPS2577 HPS2578 HPS2579
2 Unnecessary HPS2580 HPS2581 HPS2582 HPS2583 HPS2584 HPS2585
3 Unnecessary HPS2592 HPS2593 HPS2594 HPS2595 HPS2596 HPS2597
38. Hereditary pheochromocytoma/ paraganglioma syndrome
Hereditary pheochromocytoma/ paraganglioma syndrome 1 Unnecessary HPS2586 HPS2587 HPS2588 HPS2589 HPS2590 HPS2591
39. Congenital metabolic disorder
Congenital metabolic disorder 1 Unnecessary HPS2598 HPS2599 HPS2600 HPS2601 HPS2602 HPS2603
40. NGLY1 deficiency
NGLY1 deficiency 1 Unnecessary HPS3018 HPS3019 HPS3020 HPS3021 HPS3022 HPS3023
2 Unnecessary HPS3054 HPS3055 HPS3056 HPS3057 HPS3058 HPS3059
3 Unnecessary HPS3060 HPS3061 HPS3062 HPS3063 HPS3064 HPS3065
41Autism spectrum disorde
Autism spectrum disorder 1 Unnecessary HPS3197 HPS3198 HPS3199 HPS3200 HPS3201 HPS3202
Autism spectrum disorder 1 Unnecessary HPS2612 HPS2613 HPS2614 HPS2615 HPS2616 HPS2617
Autism spectrum disorder/ localization-related epilepsy 1 Unnecessary HPS2959 HPS2960 HPS2961 HPS2962 HPS2963 HPS2964
42. Congenital diabetes insipidus
Congenital diabetes insipidus 1 Unnecessary HPS2624 HPS2625 HPS2626 HPS2627 HPS2628 HPS2629
43. Developmental delay, epilepsy, neonatal diabetes
Developmental delay, epilepsy, neonatal diabetes 1 Unnecessary HPS3113 HPS3114 HPS3115 HPS3116 HPS3117 HPS3118
44. Hypochondroplasia
Hypochondroplasia 1 HPS3449
2 HPS3480 HPS3481
45.Familial adenomatous polyposis
Familial adenomatous polyposis 1 HPS3531 HPS3532 HPS3533 HPS3534
2 HPS3535 HPS3536
46. Gastric cancer
Gastric cancer 1 HPS3574 HPS3575 HPS3576 HPS3577 HPS3578 HPS3579 HPS3580 HPS3581 HPS3582
HPS3583 HPS3584 HPS3585
Gastric cancer 1 HPS3558 HPS3559 HPS3560 HPS3561 HPS3562 HPS3563 HPS3564 HPS3565 HPS3566
HPS3567 HPS3568 HPS3569 HPS3570 HPS3571 HPS3572 HPS3573
Non-cancerous tissue HPS3590 HPS3591 HPS3592 HPS3593
47. Retinoblastoma
Retinoblastoma (sporadic bilateral) 1 HPS3606 HPS3607 HPS3608 HPS3609 HPS3610 HPS3611 HPS3612
2 HPS3613 HPS3614 HPS3615 HPS3616 HPS3617
Retinoblastoma (sporadic unilateral) 1 HPS3618 HPS3619 HPS3620 HPS3621 HPS3622 HPS3623 HPS3624 HPS3625 HPS3626
HPS3627 HPS3628 HPS3629 HPS3630 HPS3631 HPS3632 HPS3633 HPS3634 HPS3635
HPS3636 HPS3637 HPS3638 HPS3639 HPS3640 HPS3641 HPS3642 HPS3643 HPS3644
HPS3645 HPS3646 HPS3647 HPS3648 HPS3649 HPS3650 HPS3651
48. X-linked thrombocytopenia (XLT)
X-linked thrombocytopenia (XLT) 1 HPS3657*
49. Spastic paraplegia
Spastic paraplegia 1 HPS3826 HPS3827 HPS3828
50. Down syndrome
Down syndrome 1 HPS3840 HPS3841
Down syndrome [XY,+21] 1 Unnecessary HPS4270
Down syndrome [46,XY] by elimination of the paternal (P) HPS4271
Down syndrome [46,XY] by elimination of the maternal (M1) HPS4272
Down syndrome [46,XY] by elimination of the maternal (M2) HPS4273
51. Congenital muscle type laminopathy
Congenital muscle type laminopathy 1 HPS3938 HPS3939 HPS3940

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