ACG1B http://acgg.asia/db/diseases/gdgdb?con_ui=CON00396 ACHONDROGENESIS, FRACCARO TYPE http://acgg.asia/db/diseases/gdgdb?con_ui=CON00396 ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00634 ADDUCTED THUMB-CLUBFOOT SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00634 AGA DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00005 AGU http://acgg.asia/db/diseases/gdgdb?con_ui=CON00005 ALKURAYA SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00358 ALPHA-MANNOSIDASE B DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00008 ALPHA-MANNOSIDOSIS http://acgg.asia/db/diseases/gdgdb?con_ui=CON00008 AO2 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00397 AOII http://acgg.asia/db/diseases/gdgdb?con_ui=CON00397 ARCL2 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00371 ARCL2A http://acgg.asia/db/diseases/gdgdb?con_ui=CON00371 ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS http://acgg.asia/db/diseases/gdgdb?con_ui=CON00634 ASPARTYLGLUCOSAMINIDASE DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00005 ASPARTYLGLYCOSAMINURIA http://acgg.asia/db/diseases/gdgdb?con_ui=CON00005 ATCS http://acgg.asia/db/diseases/gdgdb?con_ui=CON00634 Anemia, Dyserythropoietic, Congenital Type 2 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00373 Atelosteogenesis de la Chapelle type http://acgg.asia/db/diseases/gdgdb?con_ui=CON00397 B VARIANT GM2-GANGLIOSIDOSIS http://acgg.asia/db/diseases/gdgdb?con_ui=CON00055 BETA-MANNOSIDASE DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00011 BETA-MANNOSIDOSIS http://acgg.asia/db/diseases/gdgdb?con_ui=CON00011 BRKS2 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00408 C1型Niemann-Pick病@ja 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 CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA http://acgg.asia/db/diseases/gdgdb?con_ui=CON00402 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I, WITH DEFICIENT GLYCOSYLATION OF DOLICHOL-LINKED OLIGOSACCHARIDE, FORMERLY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00345 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00358 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV, FORMERLY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00346 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia, FORMERLY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE V, FORMERLY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00345 CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS http://acgg.asia/db/diseases/gdgdb?con_ui=CON00380 CATHEPSIN A DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00023 CDA II http://acgg.asia/db/diseases/gdgdb?con_ui=CON00373 CDAN2 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00373 CDG IIL http://acgg.asia/db/diseases/gdgdb?con_ui=CON00627 CDG IIa http://acgg.asia/db/diseases/gdgdb?con_ui=CON00358 CDG IIb http://acgg.asia/db/diseases/gdgdb?con_ui=CON00359 CDG IIc http://acgg.asia/db/diseases/gdgdb?con_ui=CON00360 CDG IId http://acgg.asia/db/diseases/gdgdb?con_ui=CON00361 CDG IIe http://acgg.asia/db/diseases/gdgdb?con_ui=CON00362 CDG IIf http://acgg.asia/db/diseases/gdgdb?con_ui=CON00363 MACULAR CORNEAL DYSTROPHY, TYPE I http://acgg.asia/db/diseases/gdgdb?con_ui=CON00391 MANNOSEPHOSPHATE ISOMERASE DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344 MANSA http://acgg.asia/db/diseases/gdgdb?con_ui=CON00008 MANSB http://acgg.asia/db/diseases/gdgdb?con_ui=CON00011 MCD http://acgg.asia/db/diseases/gdgdb?con_ui=CON00391 MCDC1 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00391 MDC1C http://acgg.asia/db/diseases/gdgdb?con_ui=CON00381 MDC1D http://acgg.asia/db/diseases/gdgdb?con_ui=CON00383 MDDGA1 and MDDGA2 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376 MDDGA3 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00377 MDDGA4 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00378 MDDGB5 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00381 MDDGB6 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00383 MDDGC4 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00379 MDDGC5 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00382 MEB 病@ja http://acgg.asia/db/diseases/gdgdb?con_ui=CON00377 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00369 MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH http://acgg.asia/db/diseases/gdgdb?con_ui=CON00358 MOGS-CDG (CDG-IIb) http://acgg.asia/db/diseases/gdgdb?con_ui=CON00359 MORBUS TEUTSCHLAENDER http://acgg.asia/db/diseases/gdgdb?con_ui=CON00402 MPI DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344 MRT22 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00369 MRT7 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00369 MSD http://acgg.asia/db/diseases/gdgdb?con_ui=CON00078 MUCOSULFATIDOSIS http://acgg.asia/db/diseases/gdgdb?con_ui=CON00078 MULTIPLE EPIPHYSEAL DYSPLASIA WITH BILAYERED PATELLAE http://acgg.asia/db/diseases/gdgdb?con_ui=CON00398 MULTIPLE EPIPHYSEAL DYSPLASIA WITH CLUBFOOT http://acgg.asia/db/diseases/gdgdb?con_ui=CON00398 MULTIPLE EPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE http://acgg.asia/db/diseases/gdgdb?con_ui=CON00398 MUSCULAR DYSTROPHY, CONGENITAL, 1C http://acgg.asia/db/diseases/gdgdb?con_ui=CON00381 MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED http://acgg.asia/db/diseases/gdgdb?con_ui=CON00381 MUSCULAR DYSTROPHY, CONGENITAL, LARGE-RELATED http://acgg.asia/db/diseases/gdgdb?con_ui=CON00383 MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D http://acgg.asia/db/diseases/gdgdb?con_ui=CON00383 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I http://acgg.asia/db/diseases/gdgdb?con_ui=CON00382 CDG IIg http://acgg.asia/db/diseases/gdgdb?con_ui=CON00364 CDG IIh http://acgg.asia/db/diseases/gdgdb?con_ui=CON00365 CDG IIj http://acgg.asia/db/diseases/gdgdb?con_ui=CON00367 CDG IIk http://acgg.asia/db/diseases/gdgdb?con_ui=CON00626 CDG Ia http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 CDG Ib http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344 CDG Ic http://acgg.asia/db/diseases/gdgdb?con_ui=CON00345 CDG Id http://acgg.asia/db/diseases/gdgdb?con_ui=CON00346 CDG Ie http://acgg.asia/db/diseases/gdgdb?con_ui=CON00347 CDG If http://acgg.asia/db/diseases/gdgdb?con_ui=CON00348 CDG Ig http://acgg.asia/db/diseases/gdgdb?con_ui=CON00349 CDG Ih http://acgg.asia/db/diseases/gdgdb?con_ui=CON00350 CDG Ii http://acgg.asia/db/diseases/gdgdb?con_ui=CON00351 CDG Ij http://acgg.asia/db/diseases/gdgdb?con_ui=CON00352 CDG Ik http://acgg.asia/db/diseases/gdgdb?con_ui=CON00353 CDG Il http://acgg.asia/db/diseases/gdgdb?con_ui=CON00354 CDG Im http://acgg.asia/db/diseases/gdgdb?con_ui=CON00355 CDG In http://acgg.asia/db/diseases/gdgdb?con_ui=CON00356 CDG Io http://acgg.asia/db/diseases/gdgdb?con_ui=CON00620 CDG Iq http://acgg.asia/db/diseases/gdgdb?con_ui=CON00622 CDG Is http://acgg.asia/db/diseases/gdgdb?con_ui=CON00624 CDG It http://acgg.asia/db/diseases/gdgdb?con_ui=CON00625 CDG, GASTROINTESTINAL TYPE http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344 CDG1(DPM3) http://acgg.asia/db/diseases/gdgdb?con_ui=CON00620 CDG1A http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 CDG1B http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344 CDG1C http://acgg.asia/db/diseases/gdgdb?con_ui=CON00345 CDG1D http://acgg.asia/db/diseases/gdgdb?con_ui=CON00346 CDG1E http://acgg.asia/db/diseases/gdgdb?con_ui=CON00347 CDG1F http://acgg.asia/db/diseases/gdgdb?con_ui=CON00348 CDG1G http://acgg.asia/db/diseases/gdgdb?con_ui=CON00349 CDG1H http://acgg.asia/db/diseases/gdgdb?con_ui=CON00350 CDG1I http://acgg.asia/db/diseases/gdgdb?con_ui=CON00351 CDG1J http://acgg.asia/db/diseases/gdgdb?con_ui=CON00352 CDG1K http://acgg.asia/db/diseases/gdgdb?con_ui=CON00353 CDG1L http://acgg.asia/db/diseases/gdgdb?con_ui=CON00354 CDG1M http://acgg.asia/db/diseases/gdgdb?con_ui=CON00355 CDG1N http://acgg.asia/db/diseases/gdgdb?con_ui=CON00356 CDG1O http://acgg.asia/db/diseases/gdgdb?con_ui=CON00620 CDG1P http://acgg.asia/db/diseases/gdgdb?con_ui=CON00621 CDG1Q http://acgg.asia/db/diseases/gdgdb?con_ui=CON00622 CDG1R http://acgg.asia/db/diseases/gdgdb?con_ui=CON00623 CDG1S http://acgg.asia/db/diseases/gdgdb?con_ui=CON00624 CDG1T http://acgg.asia/db/diseases/gdgdb?con_ui=CON00625 CDG2A http://acgg.asia/db/diseases/gdgdb?con_ui=CON00358 CDG2B http://acgg.asia/db/diseases/gdgdb?con_ui=CON00359 CDG2C http://acgg.asia/db/diseases/gdgdb?con_ui=CON00360 CDG2D http://acgg.asia/db/diseases/gdgdb?con_ui=CON00361 CDG2E http://acgg.asia/db/diseases/gdgdb?con_ui=CON00362 CDG2F http://acgg.asia/db/diseases/gdgdb?con_ui=CON00363 CDG2G http://acgg.asia/db/diseases/gdgdb?con_ui=CON00364 CDG2H http://acgg.asia/db/diseases/gdgdb?con_ui=CON00365 CDG2J http://acgg.asia/db/diseases/gdgdb?con_ui=CON00367 CDG2K http://acgg.asia/db/diseases/gdgdb?con_ui=CON00626 CDG2L http://acgg.asia/db/diseases/gdgdb?con_ui=CON00627 CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00364 CDGIIL http://acgg.asia/db/diseases/gdgdb?con_ui=CON00627 CDGIIa http://acgg.asia/db/diseases/gdgdb?con_ui=CON00358 CDGIIb http://acgg.asia/db/diseases/gdgdb?con_ui=CON00359 CDGIIc http://acgg.asia/db/diseases/gdgdb?con_ui=CON00360 CDGIId http://acgg.asia/db/diseases/gdgdb?con_ui=CON00361 CDGIIe http://acgg.asia/db/diseases/gdgdb?con_ui=CON00362 CDGIIf http://acgg.asia/db/diseases/gdgdb?con_ui=CON00363 CDGIIg http://acgg.asia/db/diseases/gdgdb?con_ui=CON00364 CDGIIh http://acgg.asia/db/diseases/gdgdb?con_ui=CON00365 CDGIIj http://acgg.asia/db/diseases/gdgdb?con_ui=CON00367 CDGIIk http://acgg.asia/db/diseases/gdgdb?con_ui=CON00626 CDGIa http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 CDGIb http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344 CDGIc http://acgg.asia/db/diseases/gdgdb?con_ui=CON00345 CDGId http://acgg.asia/db/diseases/gdgdb?con_ui=CON00346 CDGIe http://acgg.asia/db/diseases/gdgdb?con_ui=CON00347 CDGIf http://acgg.asia/db/diseases/gdgdb?con_ui=CON00348 CDGIg http://acgg.asia/db/diseases/gdgdb?con_ui=CON00349 CDGIh http://acgg.asia/db/diseases/gdgdb?con_ui=CON00350 CDGIi http://acgg.asia/db/diseases/gdgdb?con_ui=CON00351 CDGIj http://acgg.asia/db/diseases/gdgdb?con_ui=CON00352 CDGIk http://acgg.asia/db/diseases/gdgdb?con_ui=CON00353 CDGIl http://acgg.asia/db/diseases/gdgdb?con_ui=CON00354 CDGIm http://acgg.asia/db/diseases/gdgdb?con_ui=CON00355 CDGIn http://acgg.asia/db/diseases/gdgdb?con_ui=CON00356 CDGIo http://acgg.asia/db/diseases/gdgdb?con_ui=CON00620 CDGIq http://acgg.asia/db/diseases/gdgdb?con_ui=CON00622 CDGIs http://acgg.asia/db/diseases/gdgdb?con_ui=CON00624 CDGIt http://acgg.asia/db/diseases/gdgdb?con_ui=CON00625 CDGS, TYPE IV, FORMERLY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00346 CDGS2, FORMERLY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00358 CDGS4, FORMERLY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00346 CDGS5, FORMERLY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00345 CEREBROOCULAR DYSPLASIA-MUSCULAR DYSTROPHY SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376 CMD1C http://acgg.asia/db/diseases/gdgdb?con_ui=CON00381 CMD1D http://acgg.asia/db/diseases/gdgdb?con_ui=CON00383 CMD1X http://acgg.asia/db/diseases/gdgdb?con_ui=CON00380 COD-MD SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376 COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES http://acgg.asia/db/diseases/gdgdb?con_ui=CON00622 CORNEAL DYSTROPHY, MACULAR TYPE http://acgg.asia/db/diseases/gdgdb?con_ui=CON00391 CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA http://acgg.asia/db/diseases/gdgdb?con_ui=CON00402 CUTIS LAXA WITH BONE DYSTROPHY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00371 CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION http://acgg.asia/db/diseases/gdgdb?con_ui=CON00371 CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00371 CUTIS LAXA WITH JOINT LAXITY AND RETARDED DEVELOPMENT http://acgg.asia/db/diseases/gdgdb?con_ui=CON00371 CUTIS LAXA, DEBRE TYPE http://acgg.asia/db/diseases/gdgdb?con_ui=CON00371 Carbohydrate-Deficient Glycoprotein Syndrome Type Ia http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 Carbohydrate-deficient glycoprotein syndrome type 1A http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 Carbohydrate-deficient glycoprotein syndrome type 1B http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344 Cerebromuscular dystrophy, Fukuyama type http://acgg.asia/db/diseases/gdgdb?con_ui=CON00378 Congenital Disorder of Glycosylation Type Ia http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 Congenital Dyserythropoietic Anemia Type 2 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00373 Congenital Dyserythropoietic Anemia Type II http://acgg.asia/db/diseases/gdgdb?con_ui=CON00373 Congenital disorder of glycosylation type 1A http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 Congenital disorder of glycosylation type 1B http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344 Congenital disorder of glycosylation type 1C http://acgg.asia/db/diseases/gdgdb?con_ui=CON00345 Congenital disorder of glycosylation type 1D http://acgg.asia/db/diseases/gdgdb?con_ui=CON00346 Congenital disorder of glycosylation type 1E http://acgg.asia/db/diseases/gdgdb?con_ui=CON00347 Congenital disorder of glycosylation type 1F http://acgg.asia/db/diseases/gdgdb?con_ui=CON00348 Congenital disorder of glycosylation type 1G http://acgg.asia/db/diseases/gdgdb?con_ui=CON00349 Congenital disorder of glycosylation type 1H http://acgg.asia/db/diseases/gdgdb?con_ui=CON00350 Congenital disorder of glycosylation type 1I http://acgg.asia/db/diseases/gdgdb?con_ui=CON00351 Congenital disorder of glycosylation type 1J http://acgg.asia/db/diseases/gdgdb?con_ui=CON00352 Congenital disorder of glycosylation type 1K http://acgg.asia/db/diseases/gdgdb?con_ui=CON00353 Congenital disorder of glycosylation type 1L http://acgg.asia/db/diseases/gdgdb?con_ui=CON00354 Congenital disorder of glycosylation type 1M http://acgg.asia/db/diseases/gdgdb?con_ui=CON00355 Congenital disorder of glycosylation type 1N http://acgg.asia/db/diseases/gdgdb?con_ui=CON00356 Congenital disorder of glycosylation type 1O http://acgg.asia/db/diseases/gdgdb?con_ui=CON00620 Congenital disorder of glycosylation type 1P http://acgg.asia/db/diseases/gdgdb?con_ui=CON00621 Congenital disorder of glycosylation type 1Q http://acgg.asia/db/diseases/gdgdb?con_ui=CON00622 Congenital disorder of glycosylation type 1R http://acgg.asia/db/diseases/gdgdb?con_ui=CON00623 Congenital disorder of glycosylation type 1S http://acgg.asia/db/diseases/gdgdb?con_ui=CON00624 Congenital disorder of glycosylation type 1T http://acgg.asia/db/diseases/gdgdb?con_ui=CON00625 Congenital disorder of glycosylation type 2A http://acgg.asia/db/diseases/gdgdb?con_ui=CON00358 Congenital disorder of glycosylation type 2B http://acgg.asia/db/diseases/gdgdb?con_ui=CON00359 Congenital disorder of glycosylation type 2D http://acgg.asia/db/diseases/gdgdb?con_ui=CON00361 Congenital disorder of glycosylation type 2E http://acgg.asia/db/diseases/gdgdb?con_ui=CON00362 Congenital disorder of glycosylation type 2F http://acgg.asia/db/diseases/gdgdb?con_ui=CON00363 Congenital disorder of glycosylation type 2G http://acgg.asia/db/diseases/gdgdb?con_ui=CON00364 Congenital disorder of glycosylation type 2H http://acgg.asia/db/diseases/gdgdb?con_ui=CON00365 Congenital disorder of glycosylation type 2J http://acgg.asia/db/diseases/gdgdb?con_ui=CON00367 Congenital disorder of glycosylation type 2K http://acgg.asia/db/diseases/gdgdb?con_ui=CON00626 Congenital disorder of glycosylation type 2L http://acgg.asia/db/diseases/gdgdb?con_ui=CON00627 Congenital disorder of glycosylation, type 2C http://acgg.asia/db/diseases/gdgdb?con_ui=CON00360 Congenital muscular dystrophy type 1C http://acgg.asia/db/diseases/gdgdb?con_ui=CON00381 Congenital muscular dystrophy type 1D http://acgg.asia/db/diseases/gdgdb?con_ui=CON00383 DERMATAN SULFATE PROTEOGLYCAN http://acgg.asia/db/diseases/gdgdb?con_ui=CON00388 DK1 DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00355 DMD http://acgg.asia/db/diseases/gdgdb?con_ui=CON00384 DMRV http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 DOLICHOL KINASE DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00355 DUCHENNE MUSCULAR DYSTROPHY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00384 DUNDAR SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00634 DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II http://acgg.asia/db/diseases/gdgdb?con_ui=CON00373 DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE http://acgg.asia/db/diseases/gdgdb?con_ui=CON00373 Dilated cardiomyopathy with mild or no proximal muscle weakness http://acgg.asia/db/diseases/gdgdb?con_ui=CON00380 Distal myopathy with rimmed vacuoles http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 Distal myopathy, Nonaka type http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 Dyserythropoietic Anemia, Congenital Type 2 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00373 EDM4 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00398 EDS VI http://acgg.asia/db/diseases/gdgdb?con_ui=CON00407 EDS6 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00407 EDS6A, FORMERLY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00407 EDS6B, FORMERLY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00634 EDSMC http://acgg.asia/db/diseases/gdgdb?con_ui=CON00634 EDSP1 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00388 EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE http://acgg.asia/db/diseases/gdgdb?con_ui=CON00407 EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE http://acgg.asia/db/diseases/gdgdb?con_ui=CON00407 EHLERS-DANLOS SYNDROME, TYPE VIA, FORMERLY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00407 EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00634 Ehlers-Danlos syndrome, type 6 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00407 FCMD http://acgg.asia/db/diseases/gdgdb?con_ui=CON00378 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00378 Fraccaro achondrogenesis http://acgg.asia/db/diseases/gdgdb?con_ui=CON00396 Fukuyama CMD http://acgg.asia/db/diseases/gdgdb?con_ui=CON00378 GALACTOSYLTRANSFERASE DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00401 GALACTOSYLTRANSFERASE I DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00388 GLUCOSIDASE I DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00359 GLYCOASPARAGINASE http://acgg.asia/db/diseases/gdgdb?con_ui=CON00005 GLYCOSYLASPARAGINASE DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00005 GM2-GANGLIOSIDOSIS, TYPE I http://acgg.asia/db/diseases/gdgdb?con_ui=CON00055 GOLDBERG SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00023 GROENOUW TYPE II CORNEAL DYSTROPHY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00391 GSL http://acgg.asia/db/diseases/gdgdb?con_ui=CON00023 HARD SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376 HEMPAS http://acgg.asia/db/diseases/gdgdb?con_ui=CON00373 HEMPAS Anemia http://acgg.asia/db/diseases/gdgdb?con_ui=CON00373 HEREDITARY ERYTHROBLASTIC MULTINUCLEARITY WITH POSITIVE ACIDIFIED-SERUM TEST http://acgg.asia/db/diseases/gdgdb?con_ui=CON00373 HEXA DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00055 HEXOSAMINIDASE A DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00055 HFTC http://acgg.asia/db/diseases/gdgdb?con_ui=CON00402 HHS http://acgg.asia/db/diseases/gdgdb?con_ui=CON00402 HIBM2 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 HPMRS1 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00635 HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376 HYPEROSTOSIS WITH HYPERPHOSPHATEMIA http://acgg.asia/db/diseases/gdgdb?con_ui=CON00402 HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00402 Hereditary inclusion body myopathy type 2 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 IBM2 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 INCLUSION BODY MYOPATHY, QUADRICEPS-SPARING http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 JAEKEN SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 LAD2 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00360 LEUKOCYTE ADHESION DEFICIENCY, TYPE II http://acgg.asia/db/diseases/gdgdb?con_ui=CON00360 LGMD2I http://acgg.asia/db/diseases/gdgdb?con_ui=CON00382 LGMD2M http://acgg.asia/db/diseases/gdgdb?con_ui=CON00379 LIPOCALCINOGRANULOMATOSIS http://acgg.asia/db/diseases/gdgdb?con_ui=CON00402 LYSOSOMAL ALPHA-D-MANNOSIDASE DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00008 LYSOSOMAL BETA-MANNOSIDASE DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00011 LYSOSOMAL PROTECTIVE PROTEIN DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00023 Leukocyte adhesion deficiency, type 2 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00360 Limb-girdle muscular dystrophy type 2I http://acgg.asia/db/diseases/gdgdb?con_ui=CON00382 Limb-girdle muscular dystrophy type 2M http://acgg.asia/db/diseases/gdgdb?con_ui=CON00379 MABRY SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00635 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M http://acgg.asia/db/diseases/gdgdb?con_ui=CON00379 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE http://acgg.asia/db/diseases/gdgdb?con_ui=CON00384 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED http://acgg.asia/db/diseases/gdgdb?con_ui=CON00382 MYOPATHY, DISTAL, WITH RIMMED VACUOLES http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 Muscular dystrophy, congenital, type 1C http://acgg.asia/db/diseases/gdgdb?con_ui=CON00381 NEONATAL OSSEOUS DYSPLASIA I http://acgg.asia/db/diseases/gdgdb?con_ui=CON00397 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00023 NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION http://acgg.asia/db/diseases/gdgdb?con_ui=CON00023 NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 NEVO SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00407 NGBE http://acgg.asia/db/diseases/gdgdb?con_ui=CON00023 NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 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, SUBACUTE JUVENILE FORM http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 NIEMANN-PICK DISEASE, TYPE C http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 NM http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 NONAKA DISTAL MYOPATHY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 NPC http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 NPC1 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 Nevo症候群@ja http://acgg.asia/db/diseases/gdgdb?con_ui=CON00407 Niemann-Pick病C1型@ja http://acgg.asia/db/diseases/gdgdb?con_ui=CON00089 OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES http://acgg.asia/db/diseases/gdgdb?con_ui=CON00408 Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities http://acgg.asia/db/diseases/gdgdb?con_ui=CON00622 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA http://acgg.asia/db/diseases/gdgdb?con_ui=CON00414 PDS, DEFECTIVE BIOSYNTHESIS OF http://acgg.asia/db/diseases/gdgdb?con_ui=CON00388 PHOSPHOMANNOMUTASE 2 DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 PHPTC http://acgg.asia/db/diseases/gdgdb?con_ui=CON00402 PNH http://acgg.asia/db/diseases/gdgdb?con_ui=CON00414 PNH1 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00414 PPCA DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00023 PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE http://acgg.asia/db/diseases/gdgdb?con_ui=CON00632 PROTECTIVE PROTEIN/CATHEPSIN A DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00023 PROTEIN-LOSING ENTEROPATHY-HEPATIC FIBROSIS SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344 PROTEODERMATAN SULFATE, DEFECTIVE BIOSYNTHESIS OF http://acgg.asia/db/diseases/gdgdb?con_ui=CON00388 Progeroid variant of Ehlers-Danlos syndrome http://acgg.asia/db/diseases/gdgdb?con_ui=CON00388 QSM http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 RAMBAM-HASHARON SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00360 RHS http://acgg.asia/db/diseases/gdgdb?con_ui=CON00360 Rambam Hasharon syndrome http://acgg.asia/db/diseases/gdgdb?con_ui=CON00360 SAGUENAY-LAC SAINT-JEAN SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344 SLSJ SYNDROME http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344 SULFATIDOSIS, JUVENILE, AUSTIN TYPE http://acgg.asia/db/diseases/gdgdb?con_ui=CON00078 TEUTSCHLAENDER DISEASE, FAMILIAL http://acgg.asia/db/diseases/gdgdb?con_ui=CON00402 TNPS http://acgg.asia/db/diseases/gdgdb?con_ui=CON00401 TPBS http://acgg.asia/db/diseases/gdgdb?con_ui=CON00632 TSD http://acgg.asia/db/diseases/gdgdb?con_ui=CON00055 TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC http://acgg.asia/db/diseases/gdgdb?con_ui=CON00402 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED http://acgg.asia/db/diseases/gdgdb?con_ui=CON00378 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED http://acgg.asia/db/diseases/gdgdb?con_ui=CON00377 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED and POMT2-RELATED http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376 XGPT DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00388 XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE DEFICIENCY http://acgg.asia/db/diseases/gdgdb?con_ui=CON00388 エーラース・ダンロス症候群VIA型@ja http://acgg.asia/db/diseases/gdgdb?con_ui=CON00407 エーラスダンロス症候群VIA型@ja http://acgg.asia/db/diseases/gdgdb?con_ui=CON00407 ゴールドバーグ症候群@ja http://acgg.asia/db/diseases/gdgdb?con_ui=CON00023 サルファティドーシス@ja http://acgg.asia/db/diseases/gdgdb?con_ui=CON00078 サンタヴォリ病@ja http://acgg.asia/db/diseases/gdgdb?con_ui=CON00377 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 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 テイザックス病@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 リムドバキュオル型遠位型ミオパチー@ja http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 β-ガラクトシダーゼ-ノイラミダーゼ欠損症@ja http://acgg.asia/db/diseases/gdgdb?con_ui=CON00023 遺伝性封入体ミオパチー@ja http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 筋・眼・脳病@ja http://acgg.asia/db/diseases/gdgdb?con_ui=CON00377 酸溶血試験陽性の遺伝性多核赤芽球症@ja http://acgg.asia/db/diseases/gdgdb?con_ui=CON00373 多種サルファターゼ欠損症@ja http://acgg.asia/db/diseases/gdgdb?con_ui=CON00078