| TSD | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00055 | | |
| B VARIANT GM2-GANGLIOSIDOSIS | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00055 | | |
| テイ・サックス病@ja | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00055 | | |
| テイザックス病@ja | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00055 | | |
| テイサックス病@ja | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00055 | | |
| ヘキソミダーゼαサブユニット欠損症@ja | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00055 | | |
| GM2-GANGLIOSIDOSIS, TYPE I | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00055 | | |
| 多種サルファターゼ欠損症@ja | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00078 | | |
| MUCOSULFATIDOSIS | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00078 | | |
| サルファティドーシス@ja | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00078 | | |
| MSD | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00078 | | |
| SULFATIDOSIS, JUVENILE, AUSTIN TYPE | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00078 | | |
| NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 | | |
| NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 | | |
| NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 | | |
| NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 | | |
| C1型ニーマン・ピック病@ja | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 | | |
| C1型Niemann-Pick病@ja | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 | | |
| NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 | | |
| NPC1 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 | | |
| NIEMANN-PICK DISEASE, TYPE C | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 | | |
| Niemann-Pick病C1型@ja | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 | | |
| NPC | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 | | |
| PHOSPHOMANNOMUTASE 2 DEFICIENCY | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 | | |
| Congenital Disorder of Glycosylation Type Ia | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 | | |
| CDG1A | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 | | |
| Congenital disorder of glycosylation type 1A | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 | | |
| Carbohydrate-deficient glycoprotein syndrome type 1A | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 | | |
| CDG Ia | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 | | |
| CDGIa | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 | | |
