Gaslini

Cell Line and DNA Bank
 

DIAGNOSIS LIST



DIAGNOSIS OMIM Number
ACYL-CoA DEHYDROGENASE, LONG CHAIN, DEF. 201460
ADENOSINE DEAMINASE 102700
ADRENAL HYPERPLASIA III 201910
ADRENOLEUKODYSTROPHY 300100
AGANGLIONOSIS, TOTAL INTESTINAL 202550
AICARDI 304050
ALAGILLE 118450
ALEXANDER 203450
ALKAPTONURIA 203500
ALPERS 203700
ANGELMAN 105830
APECED 240300
ARGINOSUCCINICOACIDURIA 207900
ARSA PSEUDODEFICIENCY 250100001
ARTHROGRYPOSIS MULTIPLEX CONGENITA 108110
ARTICULAR HYPERMOBILITY FAMILIAL 147900
ASPARTYLGLYCOSAMINURIA 208400
ATAXIA-TELANGIECTASIA 208900
AUSTIN 272200
BANNAYAN-RILEY RUVALCABA 153480
BARDET-BIEDL 209900
BECKWITH-WIEDEMANN 130650
BERARDINELLI-SEIP 269700
CAMPTOMELIC DWARFISM 211970
CAMURATI-ENGELMANN 131300
CANAVAN 271900
CARBAMOYLPHOSPHATE SYNTETASE DEF. 237300
CDG Ia 212065
CDG Ig 607143
CELIAC DISEASE 212750
CHARCOT-MARIE 118200
CHONDRODYSPLASIA PUNCTATA 215100
CITRULLINEMIA CLASSIC 215700
CLEIDOCRANIAL DYSPLASIA 119600
COCKAYNE 216400
COFFIN-LOWRY 303600
COFS 214150
COHEN SYNDROME 216550
CONGENITAL UNDERGROWTH OF LEFT LEG 0
COSTELLO 218040
COX DEF. 220110
CPT DEF. 255120
CRI DU CHAT 123450
CRISPONI SYNDROME 601378
CYSTIC FIBROSIS 219700
CYSTINOSIS 219800
DAVIDSON DISEASE 251850
Del chr 7p 0
Del 11 q 0
Del 22 (q 11.2) 0
Del 22 q 0
DIASTROPHIC DYSPLASIA 222600
DIBASICAMINOACIDURIA II 222700
DIGEORGE 188400
DYGGVE-MELCHIOR-CLAUSEN DISEASE 223800
DYSTONIA MUSCULORUM DEFORMANS 224500
EHLERS-DANLOS 0
EHLERS-DANLOS I 130000
EHLERS-DANLOS IV 130050
ELLIS-VAN CREVELD 225500
ENCHONDROMATOSIS MULTIPLE 166000
FABRY 301500
FACTOR XIII DEF. 228500
FAMILIAL DOLICHOCEPHALY 0
FANCONI 227650
FANCONI-BICKEL 227810
FARBER 228000
FIBRODYSPLASIA OSSIFICANS 135100
FIBROMATOSIS, JUVANILE HYALINE 228600
FREEMAN-SHELDON 193700
FRONTOMETAPHYSEAL DYSPLASIA 305620
FRUCTOSE 1,6 DIPHOSPHATE DEFICIENCY 229700
FRUCTOSE INTOLERANCE 229600
FUCOSIDOSIS 230000
GALACTOSEMIA (GALT -) 230400
GANGLIOSIDOSIS GM 1 TYPE 1 230500
GANGLIOSIDOSIS GM 1 TYPE 2 230600
GANGLIOSIDOSIS GM2 B1 VAR 272800
GAUCHER 1 230800
GAUCHER 2 230900
GAUCHER 3 231000
GELEOPHISIC DWARFISM 231050
GERODERMA OSTEODYSPLASTICA 231070
GIANT AXONAL NEUROPATHY 256850
GLUTARICACIDEMIA I 231670
GLYCERONEPHOSPHATE O-ACYLTRANSFERASE 602744
GLYCOGEN STOR. DIS. Ia 232200
GLYCOGEN STORAGE DISEASE II 232300
GLYCOGEN STORAGE DISEASE TYPE Ib 232220
GLYCOGEN STORAGE DISEASE TYPE III 232400
GLYCOGEN STORAGE DISEASE TYPE IV 232500
GLYCOGEN STORAGE DISEASE TYPE VIII 306000
GONADOTROPIN DEF. 306190
HEMIHYPERTROPHY 235000
HEMOCHROMATOSIS NEONATAL 231100
HOLT-ORAM 142900
HOMOCYSTINURIA 236200
HYPERCHOLESTEROLEMIA FAMILIAL 143890
HYPERGLYCEROLEMIA 307030
HYPERGLYCINEMIA NONKETOTIC 238300
HYPERINSULINISM-HYPERAMMONEMIA SYNDROME 138130
HYPERLIPOPROTEINEMIA1 TYPE 1 238600
HYPOPHOSPHATASIA CHILDHOOD 241510
HYPOPHOSPHATASIA INFANTILE 241500
HYSTIOCYTOSIS X 235900
ICHTHYOSIS X-LINKED 308100
INTESTINAL PSEUDOOBSTRUCTION DUE TO NEURONAL DIS. 243180
ISOVALERICACIDEMIA 243500
KALLMANN 147900
KARTAGENER 244400
KRABBE 245200
LARSEN 245600
LAURENCE-MOON 245800
LEPRECHAUNISM 246200
LESCH-NYHAN 308000
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 603896
LOWE 309000
MANNOSIDOSIS 248500
MAPLE SYRUP URINE DISEASE 248600
MARFAN 154700
MARINESCO-SJOGREN 248800
MCCUNE-ALBRIGHT SYNDROME 174800
MELORHEOSTOSIS 155950
MENKES 309400
METACHROMATIC LEUCODYSTROPHY 250100
METACHROMATIC LEUCODYSTROPHY SAP B DEF 249900
METAPHYSEAL CHONDRODYSPLASIA MCKUSICK TYPE 250250
METAPHYSEAL CHONDRODYSPLASIA SCHMID TYPE 156500
METATROPIC DWARFISM 156550
METHYLENETETRAHYDROFOLATE REDUCTASE DEF. 236250
METHYLMALONICOACIDEMIA 251000
MICHELIN TIRE BABY SYNDROME 156610
MITOCHONDRIAL DNA DEPLETION SYNDROME 251880
MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I 252010
MLC1 605908
MMA-HOMOCYSTINURIA 236270
MOLYBDENUM COFACTOR DEF. 252150
MUCOLIPIDOSIS II 252500
MUCOLIPIDOSIS III 252600
MUCOPOLYSACCHARIDOSIS I 252800
MUCOPOLYSACCHARIDOSIS II 309900
MUCOPOLYSACCHARIDOSIS IIIA 252900
MUCOPOLYSACCHARIDOSIS IIIB 252920
MUCOPOLYSACCHARIDOSIS IIIC 252930
MUCOPOLYSACCHARIDOSIS IIID 252940
MUCOPOLYSACCHARIDOSIS IVA 253000
MUCOPOLYSACCHARIDOSIS IVB 253010
MUCOPOLYSACCHARIDOSIS VI 253200
MULTIPLE CARBOXYLASE DEF., LATE-ONSET 253260
MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL FORM 253270
MUSCLE-EYE-BRAIN DISEASE 253280
MUSCULAR DYSTROPHY DEF. SARCOGLYCAN 253700
MUSCULAR DYSTROPHY DUCHENNE TYPE 310200
MUSCULAR FIBERS DISPROPORTION 0
MYOTONIC DYSTROPHY 160900
NARP SYNDROME 551500
NCL 0
NCL INFANTILE 256730
NCL JUVENILE TYPE 204200
NCL LATE INFANTILE 204500
NEURAMINIDASE DEF. 256550
NEURAMINIDASE DEF. WITH BETA-GALACTOSIDASE DEF. 256540
NEUROAXONAL DYSTROPHY 234200
NEUROAXONAL DYSTROPHY 256600
NIEMANN-PICK A 257200
NIEMANN-PICK B 607616
NIEMANN-PICK C 257220
ORNITHINE-TRANSCARBAMYLASE DEF. 311250
OSTEOGENESIS IMPERFECTA 0
OSTEOGENESIS IMPERFECTA I 166200
OSTEOGENESIS IMPERFECTA I - NEUROFIBR. 0
OSTEOGENESIS IMPERFECTA IA 166240
OSTEOGENESIS IMPERFECTA II 166210
OSTEOGENESIS IMPERFECTA III 259420
OSTEOGENESIS IMPERFECTA IV 166220
OSTEOMYELITIS CHRONIC MULTIFOCAL 259680
OSTEOPETROSIS 259700
OSTEOPOROSIS JUVENILE 259750
OSTEOPOROSIS PSEUDOGLIOMA 259770
PALLISTER-KILLIAN 601803
PELIZAEUS-MERZBACHER 312080
PHENYLKETONURIA I 261600
PHENYLKETONURIA II 261630
PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596
PORPHIRIA, ACUTA INTERMITTET 176000
PRADER WILLI 176270
PROPIONICACIDEMIA 232000
PYCNODYSOSTOSIS 265800
PYRUVATE DEHYDROGENASE COMPLEX 312170
PYRUVATE DEHYDROGENASE DEF. 245349
RENAL COLOBOMA SYNDROME 120330
RIEGER SYNDROME TYPE 1 180500
ROBERTS 268300
SALLA DISEASE 269920
SALLA DISEASE 604369
SANDHOFF 268800
SCID 202500
SHWACHMAN-BODIAN 260400
SIALIC ACID STORAGE 269920
SIDS 272120
SJOGREN-LARSSON 270200
SMA I 253300
SMA III 253400
SPONASTRIME DYSPLASIA 271510
SPONDYLOCOSTAL DYSOSTOSIS 277300
SPONDYLOEPIPHYSEAL DYSPLASIA 183900
STUVE-WIEDEMANN SYNDROME 601559
SURF1 185620
TAY-SACHS 272800
TESTICULAR FEMINIZATION 313700
TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS 242170
TRIGLYCERIDE STORAGE 275630
TRISOMY 18 0
TRISOMY 21 0
TRISOMY 21 190685
TURNER 0
TURNER MOSAIC 0
TYROSINEMIA TYPE I 276700
TYROSINEMIA TYPE II 276600
VELOCARDIO FACIAL SYNDROME 192430
WALKER-WARBURG 236670
WILSON 277900
WISKOTT-ALDRICH 301000
WOLMAN 278000
X DUPLICATION 0
XERODERMA PIGMENTOSUM I 278000
XERODERMA PIGMENTOSUM I 278700
XERODERMIC IDIOCY OF DE SANCTIS AND CACCHIONE 278800
ZELLWEGER 214100

 

 


Site by Dr. Mirella Filocamo
Weekly update by Lucia Obino. Last update: 19/09/2005 09:43:09

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Last update:19/09/2005 09:43:09