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 Telethon grants have made this catalogue possible Best view 800x600 with Internet Explorer © 2001 TTA srl. Genova - All rights reserved. Last update:19/09/2005 09:43:09