Otorhinolaryngologic diseases, Diseases due to chromosomal aberrations and gene mutations

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Update : 2020.11.27

Name of diseases Patient No. *Terms Approval Form HPS References
Otorhinolaryngologic diseases
1. Branchio-oto-renal syndrome
Branchio-oto-renal syndrome 1 HPS3981 HPS3982 HPS3983
Digestive system diseases
1. Primary biliary cirrhosis (PBC)
Primary biliary cirrhosis (PBC) 1 Unnecessary HPS1174 HPS1175 HPS1176 HPS1177 HPS1178 HPS1179
2 Unnecessary HPS1234 HPS1235 HPS1236 HPS1237 HPS1238 HPS1239
3 Unnecessary HPS1246 HPS1247 HPS1248 HPS1249 HPS1250 HPS1251
4 Unnecessary HPS1276 HPS1277 HPS1278 HPS1279 HPS1280 HPS1281
5 Unnecessary HPS1490 HPS1491 HPS1492 HPS1493 HPS1494 HPS1495
2. Primary sclerosing cholangitis (PSC)
Primary sclerosing cholangitis (PSC) 1 Unnecessary HPS1972 HPS1973 HPS1974 HPS1975 HPS1976 HPS1977
3. Autoimmune hepatitis (AIH)
Autoimmune hepatitis (AIH) 1 Unnecessary HPS1222 HPS1223 HPS1224 HPS1225 HPS1226 HPS1227
2 Unnecessary HPS1270 HPS1271 HPS1272 HPS1273 HPS1274 HPS1275
Autoimmune hepatitis (AIH), AMA positive 1 Unnecessary HPS2472 HPS2473 HPS2474 HPS2475 HPS3476 HPS2477
4. Crohn’s disease
Crohn’s disease, ileal type 1 Unnecessary HPS1508 HPS1509 HPS1510 HPS1511 HPS1512 HPS1513
2 Unnecessary HPS2816 HPS2817 HPS2818 HPS2819 HPS2820 HPS2821
Crohn’s disease, ileocolic type 1 Unnecessary HPS2054 HPS2055 HPS2056 HPS2057 HPS2058 HPS2059
Crohn’s disease, colic type 1 Unnecessary HPS3278 HPS3279 HPS3280 HPS3281 HPS3282 HPS3283
5. Ulcerative colitis
Ulcerative colitis, total colitis 1 Unnecessary HPS1397 HPS1398 HPS1399 HPS1400 HPS1401 HPS1402
2 Unnecessary HPS1430 HPS1431 HPS1432 HPS1433 HPS1434 HPS1435
Ulcerative colitis, proctitis 1 Unnecessary HPS2678 HPS2679 HPS2680 HPS2681 HPS2682 HPS2683
6. Eosinophilic gastro-intestinal disorde
Eosinophilic gastro-intestinal disorder, eosinophilic gastroenteritis 1 Unnecessary HPS2268 HPS2269 HPS2270 HPS2271 HPS2272 HPS2273
7. hronic nonspecific multiple ulcers of the small intestine
Chronic nonspecific multiple ulcers of the small intestine 1 Unnecessary HPS2977 HPS2978 HPS2979 HPS2980 HPS2981 HPS2982
8. Hirschsprung’s disease
Hirschsprung’s disease, total colonic aganglionosis 1 Unnecessary HPS3242 HPS3243 HPS3244 HPS3245 HPS3246 HPS3247
Diseases due to chromosomal aberrations and gene mutations
1. Rubinstein-Taybi syndrom
Rubinstein-Taybi syndrome, mutation in CREBBP 1 Unnecessary HPS2876 HPS2877 HPS2878 HPS2879 HPS2880 HPS2881
2. CFC syndrome
CFC syndrome, mutation in BRAF 1 Unnecessary HPS3161 HPS3162 HPS3163 HPS3164 HPS3465 HPS3466
3. Pachydermoperiostosis, possible case
Pachydermoperiostosis, possible case 1 Unnecessary HPS3260 HPS3261 HPS3262 HPS3263 HPS3264 HPS3265
4. Williams syndrome
Williams syndrome 1 Unnecessary HPS2550 HPS2551 HPS2552 HPS2553 HPS2554 HPS2555
2 Unnecessary HPS3332 HPS3333 HPS3334 HPS3335 HPS3336 HPS3337
5. ATR-X syndrome
X-Linked α-Thalassemia, Mental Retardation Syndrome (ATR-X syndrome) 1 HPS0207* HPS0208*
2 HPS1007* HPS1008* HPS1009*
6. Coffin-Siris syndrome
Coffin-Siris syndrome, mutation in ARID1B 1 Unnecessary HPS2822 HPS2823 HPS2824 HPS2825 HPS2826 HPS2827
7. Kabuki syndrome
Kabuki syndrome 1 Unnecessary HPS3096 HPS3097 HPS3098 HPS3099 HPS3100 HPS3101
8. Werner syndrome
Werner syndrome (RCB0407 WS2TKB) 1 HPS0193 HPS0284 HPS0285 HPS0287 HPS0288
9. Cockayne’s syndrome
Cockayne’s syndrome (RCB0397 NCU-F10) 1 HPS0083* HPS0085*
10. Prader-Willi Syndrome
Prader-Willi Syndrome (RCB1560 PWS-Yamaguchi) 1 HPS0082*
Prader-Willi Syndrome 1 HPS1787
Prader-Willi Syndrome, abnomal methylation of Ch15 1 Unnecessary HPS2846 HPS2847 HPS2848 HPS2849 HPS2850 HPS2851
11. Sotos Syndrome
Sotos Syndrome, chromosome 5q partial deletion 1 Unnecessary HPS1556 HPS1557 HPS1558 HPS1559 HPS1560 HPS1561
2 Unnecessary HPS2353 HPS2354 HPS2355 HPS2356 HPS2357 HPS2358
12. Noonan syndrome
Noonan syndrome 1 HPS0998* HPS0999*
13. 1p36 deletion syndrome
1p36 deletion syndrome 1 Unnecessary HPS1912 HPS1913 HPS1914 HPS1915 HPS1916 HPS1917
14. 4p deletion syndrome
4p deletion syndrome, deletion of 4p16.3 1 Unnecessary HPS3001 HPS3002 HPS3003 HPS3004 HPS3005
15. 5p deletion syndrome
5p-syndrome 1 Unnecessary HPS1685 HPS1686 HPS1687 HPS1688 HPS1689 HPS1690
2 Unnecessary HPS2208 HPS2209 HPS2210 HPS2211 HPS2212 HPS2213
16. Smith-Magenis syndrome
Smith-Magenis syndrome, chromosome 17p partial deletion 1 Unnecessary HPS1550 HPS1551 HPS1552 HPS1553 HPS1554 HPS1555
17. 22q11.2 deletion syndrome
22q11.2 deletion syndrome 1 Unnecessary HPS1627 HPS1628 HPS1629 HPS1630 HPS1631
2 Unnecessary HPS2296 HPS2297 HPS2298 HPS2299 HPS2300
18. Epstein syndrome
Epstein syndrome 1 Unnecessary HPS0452 HPS0453 HPS0454 PMID: 23193063

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