Diagnosis list 

Diagnosis	MIM number	ICD10	Orphanet Code	Nr. of samples
21-HYDROXILASE DEFICIT				7
46,XX SEX REVERSAL 3; SRXX3	300833			4
AARSKOG SYNDROME	100050	Q87.1	ORPHA915	3
ACHONDROGENESIS		Q77.0	ORPHA932	2
ACHONDROPLASIA	100800	Q77.4	ORPHA15	21
ACTION MYOCLONUS-RENAL FAILURE SYNDROME	254900		ORPHA163696	2
ACYL-COA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF	201460		ORPHA99900	3
ADENOMATOUS POLYPOSIS OF THE COLON	175100	D12.6	ORPHA79665	12
ADENOSINE MONOPHOSPHATE DEAMINASE 1	102770			29
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	201910	E25.0	ORPHA418	1
ADRENOLEUKODYSTROPHY	300100	E71.3	ORPHA43	7
AGANGLIONOSIS, TOTAL INTESTINAL	202550			7
AICARDI SYNDROME	304050	Q04.0	ORPHA50	2
ALAGILLE SYNDROME 1	118450	Q44.7	ORPHA52	4
ALBINISM, OCULOCUTANEOUS		E70.3	ORPHA55	1
ALEXANDER DISEASE	203450	G37.8	ORPHA58	14
ALKAPTONURIA	203500	E70.2	ORPHA56	1
ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS	203700	G31.8	ORPHA726	1
ALPHA GLOBIN VARIANT				1
ALPHA-L-IDURONIDASE	252800			103
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	301040	D56.0	ORPHA847	6
ALZHEIMER DISEASE	104300	G30.8	ORPHA1020	73
ALZHEIMER DISEASE				6
AMYLOIDOSIS				1
AMYOTROPHIC LATERAL SCLEROSIS 1	105400	G12.2	ORPHA803	188
ANDROGEN RECEPTOR	313700			1
ANENCEPHALY	206500	Q00.0	ORPHA1048	12
ANGELMAN SYNDROME	105830	Q93.5	ORPHA72	45
ANGIOEDEMA		T78.3	ORPHA658	7
ANONYCHIA CONGENITA				2
APERT SYNDROME	101200	Q87.0	ORPHA87	3
ARGININOSUCCINIC ACIDURIA	207900	E72.2	ORPHA23	2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3	602086	I42.8	ORPHA247	5
ARSA PSEUDODEFICIENCY	250100001			60
ARTHROGRYPOSIS MULTIPLEX CONGENITA	108110	Q74.3	ORPHA1037	4
ARTHROGRYPOSIS, DISTAL, TYPE 2A	193700	Q87.0	ORPHA2053	2
ARTHROGRYPOSIS, DISTAL, TYPE 2B	601680	Q74.3	ORPHA1147	1
ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD	208230		1159	2
ASPARTYLGLUCOSAMINURIA	208400	E77.1	ORPHA93	7
ASPECIFIC MYOPATHIC SIGNS				57
ASPECIFIC NEUROGENIC SIGN				27
ASPECIFIC NEUROPATHY				1
ATAXIA-TELANGIECTASIA	208900	G11.3	ORPHA100	4
AUTISM		F84.0	ORPHA106	64
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I	240300	E31.0	ORPHA3453	3
AXENFELD-RIEGER SYNDROME		Q13.8	ORPHA782	2
AXENFELD-RIEGER SYNDROME, TYPE 1	180500	Q13.8	ORPHA782	1
BANNAYAN-RILEY-RUVALCABA SYNDROME	153480	Q87.8	ORPHA109	2
BARDET-BIEDL SYNDROME	209900	Q87.8	ORPHA110	1
BASAL CELL NEVUS SYNDROME	109400	D36.9	ORPHA377	120
BECKWITH-WIEDEMANN SYNDROME	130650	Q87.3	ORPHA116	2
BENIGN CHRONIC PEMPHIGUS	169600	Q82.8	ORPHA2841	2
BETHLEM MYOPATHY	158810			9
BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET	253260	E53.8	ORPHA148	1
BRACHYOLMIA TYPE 2	184095		ORPHA93302	1
BRANCHIOOCULOFACIAL SYNDROME	113620	Q18.8	ORPHA1297	2
BRANCHIOOTORENAL SYNDROME 1	113650	Q87.8	ORPHA107	2
CAMPOMELIC DYSPLASIA	114290	Q87.1	ORPHA140	6
CAMPTOMELIC DWARFISM	211970			2
CAMURATI-ENGELMANN DISEASE	131300	Q78.3	ORPHA1328	1
CANAVAN DISEASE	271900	E70.8 - G31.8	ORPHA141	4
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO	237300	E72.2	ORPHA147	1
CARCINOMA MIDOLLARE TIROIDE				1
CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY	255120	E71.3	ORPHA156	4
CARNITINE PALMITOYLTRANSFERASE II	600650			4
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	255110			76
CARTILAGE-HAIR HYPOPLASIA	250250	Q78.8	ORPHA175	1
CAT EYE SYNDROME	115470	Q92.8	ORPHA195	1
CDG I				2
CELIAC DISEASE	212750	K90.0	ORPHA555	398
CENTRAL CORE DISEASE OF MUSCLE	117000			70
CEREBELLAR ATAXIA				6
CEREBRAL CAVERNOUS MALFORMATIONS	116860	Q28.3	ORPHA164	8
CEREBROOCULOFACIOSKELETAL SYNDROME 1	214150	Q87.8	ORPHA1466	1
CEROID LIPOFUSCINOSIS, NEURONAL, 1	256730		ORPHA79263	2
CEROID LIPOFUSCINOSIS, NEURONAL, 2	204500		ORPHA168491	8
CEROID LIPOFUSCINOSIS, NEURONAL, 3	204200		ORPHA79264	1
CEROID LIPOFUSCINOSIS, NEURONAL, 6	601780		ORPHA168491	2
CEROID LIPOFUSCINOSIS, NEURONAL, 7	610951		ORPHA168491	1
CHANARIN-DORFMAN SYNDROME	275630		ORPHA98907	4
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A	118220		ORPHA101081	11
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B	118200		ORPHA101082	5
CHARCOT-MARIE-TOOTH NEUROPATHY		G60.0	ORPHA166	4
CHARGE SYNDROME	214800	Q87.8	ORPHA138	6
CHOROIDAL MELANOMA			ORPHA39044	10
CHROMOSOMAL REARRANGEMENT				4
CHROMOSOME DELETION		Q93		55
CHROMOSOME DICENTRIC		Q93.2		6
CHROMOSOME DOUBLE TRISOMY		Q92.8		14
CHROMOSOME DUPLICATION		Q92		18
CHROMOSOME INVERSION		Q95.1		50
CHROMOSOME MARKER		Q95.9		52
CHROMOSOME MARKER (MOSAICISM)				1
CHROMOSOME RECIPROCAL TRANSLOCATION		Q95		219
CHROMOSOME RING		Q93.2		29
CHROMOSOME RING 14		Q99.8	ORPHA1440	124
CHROMOSOME RING 14 - PARENT				211
CHROMOSOME ROBERTSONIAN TRANSLOCATION		Q95		36
CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA				1
CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS	259680	M86.3	ORPHA2778	1
CILIARY DYSKINESIA, PRIMARY, 1	244400			1
CITRULLINEMIA, CLASSIC	215700	E72.2	ORPHA187	3
CLEIDOCRANIAL DYSPLASIA	119600	Q74.0	ORPHA1452	1
COCKAYNE SYNDROME		Q87.1	ORPHA191	1
COCKAYNE SYNDROME, TYPE A	216400	Q87.1	ORPHA191	4
COENZYME Q10 DEFICIENCY	607426			1
COFFIN-LOWRY SYNDROME	303600	F78.8	ORPHA192	2
COLLAGEN, TYPE II, ALPHA-1	120140			6
COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE	608456		ORPHA220460	4
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA	212065	E74.8	ORPHA79318	3
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IG	607143	E74.8	ORPHA79324	1
CONGENITAL MUSCULAR DYSTROPHY (CMD)				51
CONGENITAL MUSCULAR DYSTROPHY (CMD)				32
CONGENITAL UNDERGROWTH OF LEFT LEG				1
CONSTITUTIONAL SEX CHROMOSOME ABNORMALITIES				1
CONSTITUTIONAL SEX CHROMOSOME ABNORMALITIES (MOS.)				1
CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2	605751	G40.3	ORPHA306	26
COREA HUNTINGTON				7
CORNELIA DE LANGE SYNDROME		Q87.1	ORPHA199	10
CORNELIA DE LANGE SYNDROME 2	300590			1
CORTICOBASAL DEGENERATION (CBD)				32
COSTELLO SYNDROME	218040	Q87.8	ORPHA3071	9
COWDEN SYNDROME		Q85.9 Z80.9	ORPHA201	1
CREATINE DEFICIENCY SYNDROME, X-LINKED	300352	F79 .1	ORPHA52503	5
CRI-DU-CHAT SYNDROME	123450	Q93.4	ORPHA281	106
CRISPONI SYNDROME	601378	Q87.0	ORPHA1545	2
CRITICAL ILLNESS MYOPATHY (CIM)				21
CROUZON SYNDROME	123500	Q75.1	ORPHA207	11
CURRARINO SYNDROME		Q42	ORPHA1552	1
CUSHING SYNDROME		E24	ORPHA553	2
CYLINDROMATOSIS, FAMILIAL	132700		ORPHA211	14
CYSTIC FIBROSIS	219700	E84	ORPHA586	34
CYSTINOSIS, NEPHROPATHIC	219800	E72.0	ORPHA213	19
CYSTINURIA	220100	E72.0	ORPHA214	1
DANON DISEASE	300257			22
DARIER DISEASE		Q82.8	ORPHA218	2
DE SANCTIS-CACCHIONE SYNDROME	278800	Q82.1	ORPHA1569	2
DEAFNESS				34
DEGENERATIVE NEUROPATHY				5
DEL CHR 7P				1
DEL 11 Q				2
DEL 22 (Q 11.2)				2
DEL 22 Q				1
DEMENTIA, LEWY BODY	127750			52
DEVELOPMENTAL RETARDATION				1
DIARRHEA 2, WITH MICROVILLOUS ATROPHY	251850		ORPHA2290	1
DIASTROPHIC DYSPLASIA	222600	Q77.5	ORPHA628	1
DIGEORGE SYNDROME	188400	Q82.1	ORPHA567	4
DONOHUE SYNDROME	246200	E16.1 - E34.3	ORPHA508	1
DOWN SYNDROMETRISOMY 21, INCLUDED	190685	Q90.0	ORPHA870	610
DRUG-INDUCED PARKINSONISM				20
DYGGVE-MELCHIOR-CLAUSEN DISEASE	223800	Q87.1	ORPHA239	1
DYSKERATOSIS CONGENITA, X-LINKED	305000	D84.8	ORPHA1775	2
DYSTONIA				11
DYSTROPHIA MYOTONICA 1	160900	G71.7	ORPHA273	336
DYSTROPHIA MYOTONICA 2	602668			38
DYSTROPHIC SIGN				2
ECHOGRAPHIC MALFORMATION				4
EDWARDS SYNDROME		Q91.0 Q91.2		1
EHLERS-DANLOS			ORPHA98249	6
EHLERS-DANLOS SYNDROME, TYPE I	130000	Q79.6	ORPHA287	2
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT	130050	Q79.6	ORPHA286	1
ELLIS-VAN CREVELD SYNDROME	225500	Q77.6	ORPHA289	1
EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED	310300			12
ENCHONDROMATOSIS, MULTIPLE	166000			1
EPIDERMOLYSIS BULLOSA		Q81	ORPHA79361	11
EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE	131900	Q81	ORPHA79399	2
EPILEPSY				1
EPILEPSY PROGRESSIVE MYOCLONIC (ND)				12
EPILEPSY, IDIOPATHIC GENERALIZED	600669			34
EPILEPSY, JUVENILE MYOCLONIC	606904	G40.3	ORPHA307	2
EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2	607876		ORPHA86814	35
ESSENTIAL HYPERCKEMIA				118
ESSENTIAL HYPERCKEMIA				1
EXOSTOSES, MULTIPLE, TYPE I	133700	Q78.6	ORPHA321	1
FABRY DISEASE	301500	E75.2	ORPHA324	5
FACIAL ECTODERMAL DYSPLASIA	227260		ORPHA1807	2
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A	158900			363
FACTOR XIII DEF.	228500			1
FAMILIAL DOLICHOCEPHALY				1
FANCONI ANEMIA	227650	D61.0	ORPHA84	94
FANCONI-BICKEL SYNDROME	227810	E74.0	ORPHA2088	3
FARBER LIPOGRANULOMATOSIS	228000	E75.2	ORPHA333	1
FEBRILE CONVULSIONS FAMILIAL				88
FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY	228250		ORPHA1986	2
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1	141749	D56.4	ORPHA46532	1
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	135100	M61.1	ORPHA337	4
FIBROMATOSIS, JUVENILE HYALINE	228600	M72.9	ORPHA2028	1
FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, ANDOLIGODACTYLY	228930		ORPHA2854	2
FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(Q28)	309548	Q99.2	ORPHA100973	2
FRAGILE X MENTAL RETARDATION SYNDROME	300624	Q99.2	ORPHA908	53
FRAGILE X MENTAL RETARDATION SYNDROME (PREMUTATION		Q99.2		8
FRAGILE X TREMOR/ATAXIA SYNDROME	300623	Q99.2	ORPHA93256	17
FRIEDREICH ATAXIA 1	229300			10
FRONTOMETAPHYSEAL DYSPLASIA	305620	Q78.5	ORPHA1826	1
FRONTOTEMPORAL DEMENTIA	600274			14
FRONTOTEMPORAL DEMENTIA FTD (IBMPFD)				2
FRUCTOSE INTOLERANCE, HEREDITARY	229600	E74.1	ORPHA469	2
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	229700	E74.1	ORPHA348	1
FUCOSIDOSIS	230000	E77.1	ORPHA349	27
GALACTOSEMIA	230400	E74.2	ORPHA352	2
GAUCHER DISEASE, TYPE I	230800		ORPHA77259	416
GAUCHER DISEASE, TYPE II	230900		ORPHA77260	114
GAUCHER DISEASE, TYPE III	231000		ORPHA77261	97
GELEOPHYSIC DYSPLASIA	231050		ORPHA2623	1
GERODERMA OSTEODYSPLASTICUM	231070		ORPHA2078	1
GIANT AXONAL NEUROPATHY 1	256850	G.60	ORPHA643	2
GLUTAMATE DEHYDROGENASE 1	138130			1
GLUTARIC ACIDEMIA I	231670	E72.3	ORPHA25	5
GLYCERONEPHOSPHATE O-ACYLTRANSFERASE	602744			1
GLYCINE DECARBOXYLASE	238300			3
GLYCOGEN STORAGE				2
GLYCOGEN STORAGE DISEASE I	232200			195
GLYCOGEN STORAGE DISEASE IB	232220			2
GLYCOGEN STORAGE DISEASE II	232300			478
GLYCOGEN STORAGE DISEASE III	232400			19
GLYCOGEN STORAGE DISEASE IV	232500			4
GLYCOGEN STORAGE DISEASE IXA	306000			4
GLYCOGEN STORAGE DISEASE V	232600			109
GM1-GANGLIOSIDOSIS, TYPE I	230500	E75.1	ORPHA354	73
GM1-GANGLIOSIDOSIS, TYPE II	230600	E75.1	ORPHA354	13
GONADOTROPIN DEF.	306190			1
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME	175700	Q87.0	ORPHA380	13
HAIR-AN SYNDROME				1
HEALTHY CONTROL FOR PD/PARKINSONISM				1066
HEALTHY SUBJECT (FAMILY MEMBER)				167
HEMIFACIAL MICROSOMIA	164210	Q87.0	ORPHA374	6
HEMIHYPERPLASIA, ISOLATED	235000	Q89.8	ORPHA2128	2
HEMOCHROMATOSIS, NEONATAL	231100		ORPHA446	1
HEMOGLOBIN--BETA LOCUS	141900	D56.1	ORPHA848	43
HEMOPHILIA		D66/D67		1
HERMAPHRODITISM				13
HISTIOCYTOSIS, FAMILIAL LIPOCHROME	235900			1
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	253270	E53.8	ORPHA148	1
HOLT-ORAM SYNDROME	142900	Q87.2	ORPHA392	2
HOMOCYSTINURIA	236200	E72.1	ORPHA394	7
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATEREDUCTASE ACTIVITY	236250	E72.1	ORPHA395	3
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM,CBLE COMPLEMENTATION TYPE	236270	E72.1	ORPHA2169	7
HUNTINGTON DISEASE	143100			5
HYPERCHOLESTEROLEMIA FAMILIAL		E78.0	ORPHA406	2
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	143890	E78.0	ORPHA406	1
HYPEREKPLEXIA, HEREDITARY	149400	G25.8	ORPHA3197	2
HYPERGLYCEROLEMIA	307030	E71.3	ORPHA408	2
HYPERLIPOPROTEINEMIA, TYPE I	238600	E78.3	ORPHA411	1
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C	261630	E70.1	ORPHA226	2
HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE	145701		ORPHA1023	2
HYPERTROPHIC CARDIOMYOPATHY		I42.2	ORPHA155	922
HYPOCHONDROPLASIA	146000			10
HYPOGONADISM				1
HYPOGONADISM CENTRAL				1
HYPOGONADOTROPIC HYPOGONADISM	146110		ORPHA432	8
HYPOKALEMIC PERIODIC PARALYSIS	170400			22
HYPOMELANOSIS OF ITO	300337	L81.8	ORPHA435	3
HYPOPHOSPHATASIA, CHILDHOOD	241510	E83.3	ORPHA436	1
HYPOPHOSPHATASIA, INFANTILE	241500	E83.3	ORPHA436	1
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1	308000			5
ICHTHYOSIS, X-LINKED	308100	Q80.1	ORPHA461	3
IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	304790	D84.8	ORPHA37042	58
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORALDEMENTIA	167320	G72.8	ORPHA52430	3
INCLUSION BODY MYOSITIS	147421	M60.8	ORPHA611	22
INCLUSION BODY MYOSITIS/MYOPATHY (IBM)				39
INCLUSION BODY MYOSITIS/MYOPATHY (IBM)				32
INCONTINENTIA PIGMENTI	308300	Q82.3	ORPHA464	4
INFANTILE SIALIC ACID STORAGE DISORDER	269920		ORPHA834	1
INFLAMMATORY MYOPATHY				509
INFLAMMATORY MYOPATHY				188
INFLAMMATORY MYOPATHY-DERMATOMYOSITIS				3
INFLAMMATORY MYOPATHY-DERMATOMYOSITIS				33
INFLAMMATORY NEUROPATHY				35
INTEGRIN, ALPHA-7	600536			5
ISOCHROMOSOMES		Q99.8		9
ISOLATED ANIRIDIA			ORPHA199	1
ISOVALERIC ACIDEMIA	243500	E71.1	ORPHA33	1
JACKSON-WEISS S.			ORPHA1540	2
JOINT LAXITY, FAMILIAL	147900			4
JOUBERT SYNDROME		Q04.3	ORPHA475	8
JUVENILE POLYPOSIS SYNDROME	174900	D12.6	ORPHA2929	11
KABUKI SYNDROME				8
KEARNS-SAYRE SYNDROME	530000			13
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS	148350		ORPHA2202	10
KLINEFELTER SYNDROME		Q99.0/1/2/4	ORPHA484	32
KLINEFELTER SYNDROME			ORPHA484	1
KLIPPEL-TRENAUNAY-WEBER SYNDROME	149000	D18.0/ M85.8	ORPHA2346	3
KNIEST DYSPLASIA	156550	Q77.8	ORPHA485	2
KRABBE DISEASE	245200			157
L1 CELL ADHESION MOLECULE	308840			1
LARSEN SYNDROME		Q68.8	ORPHA503	1
LARSEN SYNDROME, RECESSIVE	245600	Q68.8	ORPHA503	1
LAURENCE-MOON SYNDROME	245800	Q87.8	ORPHA2377	3
LEBER OPTIC ATROPHY	535000			15
LEIGH SYNDROME	256000			13
LEUKEMIA, CHRONIC LYMPHOCYTIC	151400		ORPHA67038	3
LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT	169500		ORPHA99027	2
LEUKODYSTROPHY, HYPOMYELINATING, 2	608804	G37.8	ORPHA702	7
LEUKODYSTROPHY, HYPOMYELINATING, 5	610532	G37.8	ORPHA85163	24
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	603896			4
LIPID STORAGE MYOPATHY				59
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2	269700	E88.1	ORPHA528	4
LOWE OCULOCEREBRORENAL SYNDROME	309000	E72.0	ORPHA534	1
LOWRY-WOOD S.				2
LYNCH SYNDROME I	120435			7
LYSINURIC PROTEIN INTOLERANCE	222700	E72.8	ORPHA470	4
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	145600			179
MALONYL-COA DECARBOXYLASE	606761			3
MANDIBULOACRAL DYSPLASIA		Q87.5		2
MANNOSIDOSIS, ALPHA B, LYSOSOMAL	248500	E77.1	ORPHA61	12
MAPLE SYRUP URINE DISEASE	248600			10
MARFAN SYNDROME	154700	Q87.4	ORPHA558	11
MARINESCO-SJOGREN SYNDROME	248800	G11.9	ORPHA559	1
MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME	277000		ORPHA3109	8
MCCUNE-ALBRIGHT SYNDROME	174800	Q78.1	ORPHA562	1
MECKEL SYNDROME		Q61.9	ORPHA564	1
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1	605908			6
MELANOMA		C43		466
MELANOMA, UVEAL	155720		ORPHA39044	5
MELORHEOSTOSISMELORHEOSTOSIS WITH OSTEOPOIKILOSIS, INCLUDED	155950	Q77.4	ORPHA2485	1
MENKES DISEASE	309400	E83.0	ORPHA565	12
MENTAL RETARDATION				234
METACHROMATIC LEUKODYSTROPHY	250100			224
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY	249900	E75.2	ORPHA512	26
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	156500	Q78.5	ORPHA174	26
METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY	251000		ORPHA79312	12
MICROTUBULE-ASSOCIATED PROTEIN TAU	157140			1
MILLER-DIEKER LISSENCEPHALY SYNDROME	247200	Q04.3	ORPHA531	1
MITOCHONDRIAL COMPLEX I DEFICIENCY	252010		2609	1
MITOCHONDRIAL COMPLEX IV DEFICIENCY	220110	G71.3	ORPHA70474	10
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM	251880	Q99.8	ORPHA35698	2
MITOCHONDRIAL MYOPATHY				245
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES	540000			100
MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I		E88.8	ORPHA2609	1
MOLYBDENUM COFACTOR DEFICIENCY	252150	E72.1	ORPHA833	1
MORNING GLORY S. (COLOBOMA OCULARE-PAX 6 MUT)			ORPHA35737	2
MORQUIO SYNDROME A	253000			28
MORQUIO SYNDROME B	253010			2
MORQUIO SYNDROME C	252300		ORPHA582	1
MORRIS SYNDROME		E34.5	ORPHA754	2
MOTOR NEURONE DISEASE				28
MT MULTIPLE DELETION POL G				4
MTDNA MACRODELETION				169
MTDNA MULTIPLE DELETIONS				112
MTDNADEPLETION				16
MUCOLIPIDOSIS II ALPHA/BETA	252500			191
MUCOLIPIDOSIS III ALPHA/BETA	252600			17
MUCOLIPIDOSIS III GAMMA	252605			16
MUCOLIPIDOSIS IV	252650	E75.1	ORPHA578	1
MUCOPOLYSACCHARIDOSIS TYPE II	309900			168
MUCOPOLYSACCHARIDOSIS TYPE IIIA	252900			46
MUCOPOLYSACCHARIDOSIS TYPE IIIB	252920			46
MUCOPOLYSACCHARIDOSIS TYPE IIIC	252930			27
MUCOPOLYSACCHARIDOSIS TYPE IIID	252940			7
MUCOPOLYSACCHARIDOSIS TYPE VI	253200			15
MULTIPLE SULFATASE DEFICIENCY	272200	E75.2	ORPHA585	15
MULTIPLE SYSTEM ATROPHY-TYPE C (MSA-C)				39
MULTIPLE SYSTEM ATROPHY-TYPE P (MSA-P)				77
MUSCLE-EYE-BRAIN DISEASE	253280	Q04.3	ORPHA588	1
MUSCULAR DYSTROPHY, BECKER TYPE	300376	G71.0	ORPHA98895	647
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A	607855			47
MUSCULAR DYSTROPHY, DUCHENNE TYPE	310200	G71.0	ORPHA98896	964
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B	159001			32
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C	607801			90
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	253600			608
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	253601			262
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C	253700	G71.0	ORPHA353	69
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D	608099			106
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E	604286			45
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F	601287			11
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I	607155			104
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K	609308			1
MUSCULAR FIBERS DISPROPORTION				1
MYASTHENIA GRAVIS	254200			17
MYELOMA, MULTIPLEAMYLOIDOSIS, PRIMARY, INCLUDED	254500	C90.0	ORPHA29073	2
MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS	545000			40
MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG	254800	G40.3	ORPHA308	19
MYOCLONIC EPILEPSY, INFANTILE	605021		ORPHA86909	2
MYOFIBRILLAR MYOPATHY				11
MYOGENIC MYOPATHY				355
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	255310			14
MYOPATHY, TUBULAR AGGREGATE	160565			12
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	160800			16
MYOTONIC DYSTROPHY TYPE1 (DM1, STEINERT'S DISEASE)	160901			56
MYOTUBULAR MYOPATHY 1	310400			2
NANCE-HORAN SYNDROME	302350	K00.1/00.2/Q12.	ORPHA627	1
NCL		E75.4	ORPHA216	1
NEMALINE MYOPATHY 2	256030			24
NETHERTON SYNDROME	256500	L67.0/Q80.8	ORPHA634	10
NEURAL TUBE DEFECTS		Q05	ORPHA3388	18
NEURAMINIDASE DEFICIENCY	256550			17
NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY	256540	E77.8	ORPHA351	4
NEUROAXONAL DYSTROPHY, INFANTILE	256600	E75.5 - G31.8	ORPHA35069	1
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	234200		ORPHA385	4
NEUROFIBROMATOSIS, TYPE I	162200	Q85.0	ORPHA6376	35
NEUROFIBROMATOSIS, TYPE II	101000	Q85.8	ORPHA637	2
NEUROGENIC MYOPATHY				646
NEUROMUSCULAR DISEASE				3
NEUROMYOGENIC MYOPATHY				64
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	600794			3
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA	551500	G31.8	ORPHA644	7
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES	162500			4
NIEMANN-PICK DISEASE, TYPE A	257200			101
NIEMANN-PICK DISEASE, TYPE BNIEMANN-PICK DISEASE, TYPE E, INCLUDED	607616			40
NIEMANN-PICK DISEASE, TYPE C1	257220			46
NON-SPECIFIC PATHOLOGIC MUSCLE CHANGES				321
NOONAN SYNDROME 1	163950	Q87.1	ORPHA648	3
NORMAL CONTROL				210
NORMAL CONTROL				214
NORMAL CONTROL (AD AND HCM)				21
NORMAL MUSCLE BIOPSY				1285
NORMAL MUSCLE BIOPSY				672
NORMAL SKIN BIOPSY				1
OCULOPHARYNGEAL MUSCULAR DYSTROPHY	164300			32
OPTIC ATROPHY 1	165500			6
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO	311250	E72.2	ORPHA664	3
OSTEOGENESIS IMPERFECTA			ORPHA666	3
OSTEOGENESIS IMPERFECTA		Q78.0	ORPHA666	25
OSTEOGENESIS IMPERFECTA I - NEUROFIBR.				1
OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH	166240	Q78.0	ORPHA666	19
OSTEOGENESIS IMPERFECTA, TYPE I	166200			5
OSTEOGENESIS IMPERFECTA, TYPE IIA	166210	Q78.0	ORPHA666	10
OSTEOGENESIS IMPERFECTA, TYPE III	259420	Q78.0	ORPHA666	12
OSTEOGENESIS IMPERFECTA, TYPE IV	166220	Q78.0	ORPHA666	1
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1	259700	Q78.2	ORPHA667	1
OSTEOPOROSIS, JUVENILE	259750	M81.8	ORPHA85193	1
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	259770		ORPHA2788	2
OTHER MITOCHONDRIAL DISORDER				150
OTHER MOVEMENT DISORDERS				30
PALLISTER-KILLIAN SYNDROME	601803	Q99.8	ORPHA884	3
PANCREATIC CARCINOMA				194
PANTOTHENATE KINASE 2	606157			2
PAPILLORENAL SYNDROME	120330	Q14.2 - Q60.4	ORPHA1475	1
PARAGANGLIOMA				1
PARAMYOTONIA CONGENITA OF VON EULENBURG	168300			1
PARKINSON DISEASE	168600			2276
PELIZAEUS-MERZBACHER DISEASE	312080	G37.8	ORPHA702	135
PENDRED SYNDROME	274600	E07.1	ORPHA705	4
PFEIFFER SYNDROME	101600	755.55	ORPHA710	8
PHENYLKETONURIA	261600	E70.0	ORPHA716	12
PHOSPHATASE AND TENSIN HOMOLOG	601728			3
POIKILODERMA WITH NEUTROPENIA; PN				12
POLYCYSTIC KIDNEYS	173900	Q61.1	ORPHA730	5
PONTOCEREBELLAR HYPOPLASIA TYPE 1	607596		ORPHA2254	4
PORPHYRIA, ACUTE INTERMITTENT	176000		ORPHA79276	1
POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2	602235			4
PRADER-WILLI SYNDROME	176270	Q87.1	ORPHA739	46
PREMATURE OVARIAN FAILURE		E28.3	ORPHA619	6
PROPIONYL-COA CARBOXYLASE, ALPHA SUBUNIT	232000			8
PROSTATIC CARCINOMA				279
PROTEIN KINASE, DNA-ACTIVATED, CATALYTIC SUBUNIT	600899			39
PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, ANDDEAFNESS	264140			1
PSEUDOACHONDROPLASIA	177170	Q77.3		8
PSEUDOXANTHOMA ELASTICUM	264800	Q82.8	ORPHA758	4
PYCNODYSOSTOSIS	265800	Q78.8	ORPHA763	53
PYRUVATE DECARBOXYLASE DEFICIENCY	312170	E74.4	ORPHA765	1
PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY	245349	E74.4	ORPHA765	3
RECURRENT TRIPLOIDY				1
RESTRICTIVE CARDIOMYOPATHY			ORPHA217632	3
RETINOBLASTOMA	180200	C69.2	ORPHA790	4
RETT SYNDROME	312750	F84.2	ORPHA778	57
RETT SYNDROME - CLASSIC RETT				227
RETT SYNDROME - CONGENITAL				14
RETT SYNDROME - EARLY SEIZURES VARIANT				41
RETT SYNDROME - FORME FRUSTE				7
RETT SYNDROME - ND (AGE LESS THAN 4 YEARS)				96
RETT SYNDROME - ZAPPELLA VARIANT				68
RETT-LIKE				30
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1	215100			2
ROBERTS SYNDROME		Q73.8		4
ROBERTS SYNDROME	268300	Q73.8	ORPHA3103	3
RUBINSTEIN-TAYBI SYNDROME	180849	Q87.2	ORPHA783	19
SAETHRE-CHOTZEN SYNDROME	101400	Q87.0	ORPHA794	1
SANDHOFF DISEASE	268800	E75.0	ORPHA796	24
SARCOIDOSIS				3
SCID	202500			2
SECKEL SYNDROME		Q87.1	ORPHA808	3
SECKEL SYNDROME			ORPHA808	1
SEGMENTAL HYPERPLASIA				2
SELF-HEALING COLLODION BABY, INCLUDED		Q80.2	ORPHA313	1
SEMINOMA			ORPHA842	4
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	607459			1
SEPN 1				13
SEVERE COMBINED IMMUNODEFICIENCY (SCID)			ORPHA183660	1
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	102700	D81.3	ORPHA277	4
SEVERE MYOCLONIC EPILEPSY OF INFANCY	607208		ORPHA33069	336
SEX CHROMOSOME ANEUPLOIDY				14
SHWACHMAN-DIAMOND SYNDROME	260400	D61.0	ORPHA811	1
SIALURIA, FINNISH TYPE	604369		ORPHA834	13
SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME	300263		ORPHA85287	4
SJOGREN-LARSSON SYNDROME	270200	E71.3	ORPHA816	4
SKELETAL DYSPLASIA				5
SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS	156610	Q82.8	ORPHA2505	1
SMITH-MAGENIS SYNDROME	182290	Q87.8	ORPHA819	2
SOTOS SYNDROME	117550	Q87.3	ORPHA821	100
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE	270550			6
SPASTIC PARAPLEGIA 2, X-LINKED	312920		ORPHA99015	9
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	182600			8
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT	182601			4
SPHEROCYTOSIS		D58.0	ORPHA822	1
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1	313200			44
SPINAL MUSCULAR ATROPHY		G12	ORPHA206701	3
SPINAL MUSCULAR ATROPHY, TYPE I	253300	G12	ORPHA70	288
SPINAL MUSCULAR ATROPHY, TYPE II	253550			84
SPINAL MUSCULAR ATROPHY, TYPE III	253400	G12.1	ORPHA83419	62
SPINOCEREBELLAR ATAXIA		G11		1
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	272460		ORPHA3275	1
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1	277300	Q76.8	ORPHA2311	2
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE	271510		ORPHA93357	1
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA	183900		ORPHA94068	3
STUVE-WIEDEMANN SYNDROME	601559		ORPHA3206	2
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	271980	E87.2	ORPHA22	4
SUDDEN INFANT DEATH SYNDROME	272120	R95		3
SUPRANUCLEAR PALSY, PROGRESSIVE, 1	601104			78
SURFEIT 1	185620			3
SWYER SYNDROME		Q97.3	ORPHA242	1
TAY-SACHS DISEASE	272800	E75.0	ORPHA845	77
TETRAPLOIDY		Q92.7		6
THANATOPHORIC DYSPLASIA (TYPE II)		Q77.1		4
THANATOPHORIC DYSPLASIA, TYPE I	187600	Q77.1	ORPHA1860	19
THYROTOXIC PERIODIC PARALYSISHASHITOXIC PERIODIC PARALYSIS, INCLUDED	188580			2
TOWNES-BROCKS SYNDROME	107480	Q87.8	ORPHA857	2
TREACHER COLLINS-FRANCESCHETTI SYNDROME	154500			4
TREMOR, HEREDITARY ESSENTIAL, 1	190300			84
TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS	242170			2
TRIFUNCTIONAL PROTEIN DEFICIENCY	609015		ORPHANET746	3
TRIPLOIDY		Q92.7		65
TRISOMY 10		Q92		3
TRISOMY 11		Q92		1
TRISOMY 12		Q92		2
TRISOMY 13		Q91		51
TRISOMY 14		Q92		7
TRISOMY 15		Q92		20
TRISOMY 16		Q92		64
TRISOMY 17		Q92		3
TRISOMY 18		Q91		75
TRISOMY 18				1
TRISOMY 20		Q92		17
TRISOMY 22		Q92		29
TRISOMY 3		Q92		3
TRISOMY 4		Q92		5
TRISOMY 5		Q92		1
TRISOMY 6		Q92		4
TRISOMY 7		Q92		7
TRISOMY 9		Q92		13
TUBEROUS SCLEROSIS	191100			7
TURNER		Q96	ORPHA881	4
TURNER MOSAIC				1
TURNER SYNDROME		Q96	ORPHA881	85
TYROSINE TRANSAMINASE DEFICIENCY	276600	E70.2	ORPHA28378	6
TYROSINEMIA, TYPE I	276700	E70.2	ORPHA882	2
ULLRICH CONGENITAL MUSCULAR DYSTROPHY	254090			2
UNDEFINED PARKINSONISM				112
USHER SYNDROME		H35.5	ORPHA886	5
USHER SYNDROME, TYPE I	276900		ORPHA231169	3
VACUOLAR MYOPATHY				1
VACUOLAR MYOPATHY				22
VASCULAR PARKINSONISM				52
VASCULITIS				13
VELOCARDIOFACIAL SYNDROME	192430	D82.1	ORPHA567	10
VON HIPPEL-LINDAU SYNDROME	193300			2
WAARDENBURG SYNDROME		Q87.8	ORPHA3440	4
WALKER-WARBURG SYNDROME	236670	Q04.3	ORPHA899	2
WEAVER SYNDROME	277590	Q87.3	ORPHA3447	3
WILLIAMS-BEUREN SYNDROME	194050	Q87.8	ORPHA904	193
WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATIONSYNDROME	194072	Q87.8	ORPHA893	2
WILSON DISEASE	277900	E83.0	ORPHA905	9
WISKOTT-ALDRICH SYNDROME	301000	D82.0	ORPHA906	4
WOLF-HIRSCHHORN SYNDROME	194190	Q93.3	ORPHA280	1
WOLMAN DISEASE	278000	E75.5	ORPHA75233	16
X DUPLICATION				1
X-LINKED ICHTHYOSIS		Q80.1	ORPHA461	1
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A	278700	Q82.1	ORPHA910	2
YOUNG-SIMPSON SYNDROME	603736		ORPHA3047	4
ZELLWEGER SYNDROME	214100	Q87.8	ORPHA912	3