Diagnosis list

DiagnosisMIM numberICD10OrphanetNr. of samples
ACTION MYOCLONUS-RENAL FAILURE SYNDROME (AMRF)254900ORPHA1636961
ACUTE NECROTIZING ENCEPHALOPATHY (ANE)608033ORPHA886192
ACYL-CoA DEHYDROGENASE, LONG CHAIN, DEF.201475E71.3ORPHA999002
ADENOSINE DEAMINASE102700D81.3ORPHA2774
ADRENAL HYPERPLASIA III201910E25.0ORPHA7941
ADRENOLEUKODYSTROPHY300100E71.3ORPHA437
AGANGLIONOSIS, TOTAL INTESTINAL202550 4
AICARDI304050Q04.0ORPHA501
ALAGILLE118450Q44.7ORPHA525
ALEXANDER203450E75.2ORPHA5817
ALKAPTONURIA203500E70.2ORPHA561
ALPERS203700G31.8ORPHA7261
ANGELMAN105830Q93.5ORPHA7238
APECED240300E31.0ORPHA34531
ARGINOSUCCINICOACIDURIA207900E72.2ORPHA232
ARSA PSEUDODEFICIENCY  13
ARTHROGRYPOSIS MULTIPLEX CONGENITA108110Q74.3ORPHA10372
ARTICULAR HYPERMOBILITY FAMILIAL147900 1
ASPARTYLGLYCOSAMINURIA208400E77.1ORPHA936
ATAXIA-TELANGIECTASIA208900G11.3ORPHA1003
AUSTIN272200E75.2ORPHA58522
AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD)169500E75.2ORPHA990271
BANNAYAN-RILEY RUVALCABA153480Q87.8ORPHA1091
BARDET-BIEDL209900Q87.8ORPHA1101
BECKWITH-WIEDEMANN130650Q87.3ORPHA1162
BERARDINELLI-SEIP269700E88.1ORPHA5283
CAMPTOMELIC DWARFISM114290Q87.1ORPHA1402
CAMURATI-ENGELMANN131300Q78.3ORPHA13281
CANAVAN271900E75.2ORPHA1416
CARBAMOYLPHOSPHATE SYNTETASE DEF.237300E72.2ORPHA1471
CDG I  1
CDG Ia212065E74.8ORPHA793189
CDG Ig607143E74.8ORPHA793241
CELIAC DISEASE212750K90.0ORPHA555424
CHARCOT-MARIE118200ORPHA1010824
CHONDRODYSPLASIA PUNCTATA215100Q77.3ORPHA1771
CITRULLINEMIA CLASSIC215700E72.2ORPHA1871
CLEIDOCRANIAL DYSPLASIA119600Q74.0ORPHA14521
COCKAYNE216400Q87.1ORPHA1917
COFFIN-LOWRY303600F78.8ORPHA1921
COFS214150Q87.8ORPHA14661
COHEN SYNDROME216550Q87.8ORPHA1931
CONGENITAL UNDERGROWTH OF LEFT LEG  1
COSTELLO218040Q87.8ORPHA30718
COWDEN SYNDROME 1158350Q85.8ORPHA2011
COX DEF.220110ORPHA2549055
CPT DEF.255120E71.3ORPHA1564
CREATINE DEFICIENCY SYNDROME300352F79 .1ORPHA525034
CRI DU CHAT123450Q93.4ORPHA2811
CRISPONI SYNDROME601378Q87.0ORPHA15451
CYSTIC FIBROSIS219700E84ORPHA58612
CYSTINOSIS219800E72.0ORPHA21320
DAVIDSON DISEASE251850P78.3ORPHA22901
Del chr 7p  1
Del 11 q  1
Del 22 (q 11.2)  2
Del 22 q  1
DIASTROPHIC DYSPLASIA222600Q77.5ORPHA6282
DIBASICAMINOACIDURIA II222700E72.0ORPHA4704
DIGEORGE188400D82.1ORPHA5671
DOWN SYNDROME - TRISOMY 21190685Q90ORPHA8705
DYGGVE-MELCHIOR-CLAUSEN DISEASE223800Q87.1ORPHA2391
DYSTONIA MUSCULORUM DEFORMANS G24.1ORPHA2562
EHLERS-DANLOS ORPHA982498
EHLERS-DANLOS I130000Q79.6ORPHA2872
EHLERS-DANLOS IV130050Q79.6ORPHA2861
ELLIS-VAN CREVELD225500Q77.6ORPHA2891
ENCHONDROMATOSIS MULTIPLE166000Q78.4ORPHA2961
EPILEPSY  1
FABRY301500E75.2ORPHA32411
FACTOR XIII DEF.  1
FAMILIAL DOLICHOCEPHALY  1
FANCONI ANEMIA227650D61.0ORPHA8482
FANCONI-BICKEL SYNDROME227810E74.0ORPHA20884
FARBER228000E75.2ORPHA3336
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (FOP)135100M61.1ORPHA3374
FIBROMATOSIS, JUVANILE HYALINE228600M72.9ORPHA20281
FREEMAN-SHELDON193700Q87.0ORPHA20531
FRONTOMETAPHYSEAL DYSPLASIA305620Q78.5ORPHA18261
FRUCTOSE 1,6 DIPHOSPHATE DEFICIENCY229700E74.1ORPHA3481
FRUCTOSE INTOLERANCE229600E74.1ORPHA4692
FUCOSIDOSIS230000E77.1ORPHA34925
FUHRMANN SYNDROME228930Q74.8ORPHA28541
GALACTOKINASE DEFICIENCY230200E74.2ORPHA3521
GALACTOSEMIA (GALT -)230400E74.2ORPHA3522
GANGLIOSIDOSIS GM 1 TYPE 1230500E75.1ORPHA35492
GANGLIOSIDOSIS GM 1 TYPE 2230600E75.1ORPHA35417
GANGLIOSIDOSIS GM2 B1 VAR272800E75.0ORPHA84524
GAUCHER 1230800E75.2ORPHA77259443
GAUCHER 2230900E75.2ORPHA77260104
GAUCHER 3231000E75.2ORPHA7726197
GELEOPHYSIC DWARFISM231050Q87.1ORPHA26231
GERODERMA OSTEODYSPLASTICA231070Q82.8ORPHA20781
GIANT AXONAL NEUROPATHY256850G60ORPHA6431
GLUTARICACIDEMIA I231670E72.3ORPHA254
GLYCERONEPHOSPHATE O-ACYLTRANSFERASE602744ORPHA1222112
GLYCOGEN STORAGE DISEASE Ia232200E74.0ORPHA79258218
GLYCOGEN STORAGE DISEASE II232300E74.0ORPHA365251
GLYCOGEN STORAGE DISEASE TYPE Ib232220E74.0ORPHA792582
GLYCOGEN STORAGE DISEASE TYPE III232400E74.0ORPHA36612
GLYCOGEN STORAGE DISEASE TYPE IV232500E74.0ORPHA3671
GLYCOGEN STORAGE DISEASE TYPE IX306000E74.0ORPHA3702
GONADOTROPIN DEF.306190 1
HAIR-AN SYNDROME  1
HEMIHYPERTROPHY235000Q89.8ORPHA21281
HEMOCHROMATOSIS NEONATAL231100E83.1ORPHA4461
HISTIOCYTOSIS X235900 1
HOLT-ORAM142900Q87.2ORPHA3921
HOMOCYSTINURIA236200E72.1ORPHA3947
HYPERCHOLESTEROLEMIA FAMILIAL143890E78.0ORPHA4061
HYPERGLYCEROLEMIA307030E71.3ORPHA4082
HYPERGLYCINEMIA NONKETOTIC238300ORPHA1221603
HYPERINSULINISM-HYPERAMMONEMIA SYNDROME138130ORPHA1221881
HYPERLIPOPROTEINEMIA1 TYPE 1238600E78.3ORPHA4111
HYPOMYELINATION AND CONGENITAL CATARACT610532G37.8ORPHA8516320
HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA612438E75.2ORPHA1394414
HYPOPHOSPHATASIA CHILDHOOD241510E83.3ORPHA2476671
HYPOPHOSPHATASIA INFANTILE241500E83.3ORPHA2476511
ICHTHYOSIS X-LINKED308100Q80.1ORPHA4613
INTESTINAL PSEUDOOBSTRUCTION DUE TO NEURONAL DIS.243180ORPHA29787
ISOVALERICACIDEMIA243500E71.1ORPHA331
KALLMANN147950E23.0ORPHA4781
KARTAGENER244400 1
KLINEFELTER SYNDROME Q98.0-1-2-3-4ORPHA4841
KRABBE245200E75.2ORPHA487163
L1 CELL ADHESION MOLECULE - L1CAM308840ORPHA1229481
LARSEN245600Q68.8ORPHA5031
LAURENCE-MOON245800Q87.8ORPHA23772
LEPRECHAUNISM246200E16.1 - E34.3ORPHA5081
LESCH-NYHAN300322E79.1ORPHA5106
LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOU607694E23.0 E75.2 K00ORPHA886372
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER603896 2
LOWE309000E72.0ORPHA5341
LYSOSOMAL ACID LIPASE DEFICIENCY278000E75.5ORPHA75233;ORPHA752315
MALONYL-CoA DECARBOXYLASE - MLYCD606761ORPHA1232903
MANNOSIDOSIS248500E77.1ORPHA617
MAPLE SYRUP URINE DISEASE248600 10
MARFAN154700Q87.4ORPHA55810
MARINESCO-SJOGREN248800G11.1ORPHA5592
MCCUNE-ALBRIGHT SYNDROME174800Q78.1ORPHA5621
MELORHEOSTOSIS155950Q77.4ORPHA24851
MENKES309400E83.0ORPHA56512
METACHROMATIC LEUCODYSTROPHY250100 230
METACHROMATIC LEUCODYSTROPHY SAP B DEF249900E75.2ORPHA51222
METAPHYSEAL CHONDRODYSPLASIA MCKUSICK TYPE250250Q78.8ORPHA1751
METAPHYSEAL CHONDRODYSPLASIA SCHMID TYPE156500Q78.5ORPHA1742
METATROPIC DWARFISM156550Q77.8ORPHA4852
METHYLENETETRAHYDROFOLATE REDUCTASE DEF.236250E72.1ORPHA3951
METHYLMALONICOACIDEMIA251000E71.1ORPHA7931212
MICHELIN TIRE BABY SYNDROME156610Q82.8ORPHA25051
MITOCHONDRIAL COMPLEX I DEFICENCY252010E88.8ORPHA26092
MITOCHONDRIAL DNA DEPLETION SYNDROME251880Q99.8ORPHA356982
MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I E88.8ORPHA26091
MLC1 - MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SU605908ORPHA1232573
MMA-HOMOCYSTINURIA236270E72.1ORPHA21697
MOLYBDENUM COFACTOR DEF.252150E72.1ORPHA8331
MONOCARBOXYLATE TRASPORTER 8 DEFICIENCY300523E03.8ORPHA592
MUCOLIPIDOSIS II252500E77.0ORPHA576118
MUCOLIPIDOSIS II ALPHA/BETA252500E77.0ORPHA5762
MUCOLIPIDOSIS III ALPHA/BETA252600E77.0ORPHA57715
MUCOLIPIDOSIS III GAMMA252605E77.0ORPHA57718
MUCOLIPIDOSIS IV252650E75.1ORPHA57813
MUCOPOLYSACCHARIDOSIS I607015E76.0ORPHA579107
MUCOPOLYSACCHARIDOSIS II309900E76.1ORPHA580152
MUCOPOLYSACCHARIDOSIS IIIA252900E76.2ORPHA7926949
MUCOPOLYSACCHARIDOSIS IIIB252920E76.2ORPHA7927063
MUCOPOLYSACCHARIDOSIS IIIC252930E76.2ORPHA7927128
MUCOPOLYSACCHARIDOSIS IIID252940E76.2ORPHA792726
MUCOPOLYSACCHARIDOSIS IVA253000E76.2ORPHA30929738
MUCOPOLYSACCHARIDOSIS IVB253010E76.2ORPHA3093102
MUCOPOLYSACCHARIDOSIS VI253200E76.2ORPHA58324
MUCOPOLYSACCHARIDOSIS VII253220E76.2ORPHA5841
MULTIPLE CARBOXYLASE DEF., LATE-ONSET253260E53.8ORPHA792411
MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL FORM253270E53.8ORPHA792421
MUSCLE-EYE-BRAIN DISEASE253280Q04.3ORPHA5881
MUSCULAR DYSTROPHY DEF. SARCOGLYCAN253700G71.0ORPHA3531
MUSCULAR DYSTROPHY DUCHENNE TYPE310200G71.0ORPHA988961
MUSCULAR FIBERS DISPROPORTION  1
MYOCLONIC EPILEPSY,FAMILIAL INFANTILE;FIME605021ORPHA869092
MYOTONIC DYSTROPHY160900G71.1ORPHA2731
NARP SYNDROME551500G31.8ORPHA6441
NCL E75.4ORPHA2161
NCL 7610951E75.4ORPHA1684911
NCL INFANTILE - CLN1256730E75.4ORPHA792633
NCL JUVENILE TYPE - CLN3204200E75.4ORPHA792641
NCL LATE INFANTILE - CLN2204500E75.4ORPHA1684918
NCL LATE INFANTILE - CLN6601780E75.4ORPHA1684911
NEURAMINIDASE DEF.256550E77.1ORPHA81214
NEURAMINIDASE DEF. WITH BETA-GALACTOSIDASE DEF.256540E77.8ORPHA3515
NEUROAXONAL DYSTROPHY  2
NEUROAXONAL DYSTROPHY256600E75.5 - G31.8ORPHA350691
NIEMANN-PICK A257200E75.2ORPHA7729280
NIEMANN-PICK B607616E75.2ORPHA7729336
NIEMANN-PICK C257220E75.2ORPHA64641
NORMAL CONTROL  383
ORNITHINE-TRANSCARBAMYLASE DEF.311250E72.2ORPHA6643
OSTEOGENESIS IMPERFECTA Q78.0ORPHA66626
OSTEOGENESIS IMPERFECTA I166200Q78.0ORPHA2167964
OSTEOGENESIS IMPERFECTA I - NEUROFIBR.  1
OSTEOGENESIS IMPERFECTA IA166200Q78.0ORPHA21679619
OSTEOGENESIS IMPERFECTA II166210Q78.0ORPHA21680410
OSTEOGENESIS IMPERFECTA III259420Q78.0ORPHA21681211
OSTEOGENESIS IMPERFECTA IV166220Q78.0ORPHA2168201
OSTEOMYELITIS CHRONIC MULTIFOCAL259680M86.3ORPHA27781
OSTEOPETROSIS259700Q78.2ORPHA6671
OSTEOPOROSIS JUVENILE259750M81.8ORPHA851931
OSTEOPOROSIS PSEUDOGLIOMA259770ORPHA27882
PALLISTER-KILLIAN601803Q99.8ORPHA8841
PANTOTHENATE KINASE 2606157ORPHA1240701
PELIZAEUS-MERZBACHER312080E75.2ORPHA702132
PELIZAEUS-MERZBACHER-LIKE DISEASE608804ORPHA28028214
PHENYLKETONURIA I261600E70.0ORPHA7163
PHENYLKETONURIA II261630E70.1ORPHA2262
POLAND SYNDROME173800Q79.8ORPHA291182
PONTOCEREBELLAR HYPOPLASIA TIPE 1B614678ORPHA22543
PORPHIRIA, ACUTA INTERMITTET176000ORPHA792761
PRADER WILLI176270Q87.1ORPHA73947
PROPIONICACIDEMIA232000 8
PYCNODYSOSTOSIS265800Q78.8ORPHA76367
PYRUVATE DEHYDROGENASE COMPLEX312170E74.4ORPHA7651
PYRUVATE DEHYDROGENASE DEF.245349E74.4ORPHA7653
RENAL COLOBOMA SYNDROME120330Q14.2 - Q60.4ORPHA14751
RIEGER SYNDROME TYPE 1180500Q13.8ORPHA7821
ROBERTS268300Q73.8ORPHA31033
SALLA DISEASE604369E77.8ORPHA8349
SANDHOFF268800E75.0ORPHA79624
SCID601457D81.1 2
SECKEL SYNDROME Q87.1ORPHA8081
SED,MAROTEAUX TYPE (PSEUDO-MORQUIO S. TYPE 2)184095ORPHA2634821
SHWACHMAN-BODIAN260400D61.0ORPHA81113
SIALIC ACID STORAGE269920E77.8ORPHA8344
SIDS272120 1
SJOGREN-LARSSON270200E71.3ORPHA8163
SMA I253300G12.0ORPHA8333012
SMA III253400G12.1ORPHA834191
SPASTIC PARAPLEGIA 11 - SPG11604360G11.4ORPHA28226
SPONASTRIME DYSPLASIA271510Q77.7ORPHA933571
SPONDYLOCARPOTARSAL SYNDROME - SCT272460Q76.4ORPHA32751
SPONDYLOCOSTAL DYSOSTOSIS277300Q76.8ORPHA23112
SPONDYLOEPIPHYSEAL DYSPLASIA183900Q77.7ORPHA940683
STARTLE SYNDROME - HYPEREKPLEXIA149400G25.8ORPHA31972
STUVE-WIEDEMANN SYNDROME601559Q78.8ORPHA32063
SURF1185620ORPHA1199043
TAY-SACHS272800E75.0ORPHA84569
TESTICULAR FEMINIZATION313700ORPHA1322851
TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS601675Q80.8ORPHA4532
TRIFUNCTIONAL PROTEIN DEFICIENCY609015E71.3 - I43.1ORPHA7463
TRIGLYCERIDE STORAGE275630E75.5ORPHA989074
TRISOMY 18  1
TURNER Q96ORPHA8814
TURNER MOSAIC  1
TYROSINEMIA TYPE I276700E70.2ORPHA8822
TYROSINEMIA TYPE II276600E70.2ORPHA283786
VELOCARDIO FACIAL SYNDROME192430D82.1ORPHA56710
WALKER-WARBURG236670Q04.3ORPHA8991
WILSON277900E83.0ORPHA9056
WISKOTT-ALDRICH301000D82.0ORPHA9063
X DUPLICATION  1
XERODERMA PIGMENTOSUM I278700Q82.1ORPHA9103
XERODERMIC IDIOCY OF DE SANCTIS AND CACCHIONE278800Q82.1ORPHA15692
ZELLWEGER214100Q87.8ORPHA9123