Diseases List
 
 
DiagnosisOmim NumberSample Count
MACHADO-JOSEPH DISEASE; MJD1091502
MACROGLOBULINEMIA, WALDENSTROM; WM1536001
MACULAR DYSTROPHY, CORNEAL, 1; MCDC12178001
MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR11365502
MAJOR AFFECTIVE DISORDER - 125480 OR 309200125480141
MAJOR AFFECTIVE DISORDER - 125480 OR 309200309200141
MAJOR AFFECTIVE DISORDER; OLD ORDER AMISH - 125480 OR 309200125480532
MAJOR AFFECTIVE DISORDER; OLD ORDER AMISH - 125480 OR 309200309200532
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA2483701
MANNOSIDOSIS, ALPHA B, LYSOSOMAL2485007
MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA24860018
MAPLE SYRUP URINE DISEASE (MSUD), TYPE II2486003
MARFAN SYNDROME; MFS15470068
MARSHALL SYNDROME1547806
MASA SYNDROME3033501
MATURITY ONSET DIABETES OF THE YOUNG, TYPE II; MODY21258511
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1125850174
MECKEL SYNDROME; MKS2490004
MEDITERRANEAN FEVER, FAMILIAL; MEFV2491003
MELANOMA, CUTANEOUS MALIGNANT, 2; CMM21556014
MENKES SYNDROME30940025
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40  6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9 1
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34; MRT34 5
MENTAL RETARDATION, X-LINKED 102; MRX102 5
MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 1; MRX13095302
METACHROMATIC LEUKODYSTROPHY25010017
METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY2504502
METHIONINE ADENOSYLTRANSFERASE DEFICIENCY2508501
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE2774003
METHYLMALONICACIDURIA DUE TO METHYLMALONIC COA MUTASE DEFICIENCY2510002
METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--CBL A2511005
METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--CBL B2511101
MEVALONATE KINASE; MVK MEVALONICACIDURIA, INCLUDED2511702
MICROCEPHALY WITH CHORIORETINOPATHY2512704
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS2472006
MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE); MTDPS12 1
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A2037002
MOEBIUS SYNDROME 1; MBS11579001
MOLYBDENUM COFACTOR DEFICIENCY2521501
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA2573009
MOTOR NEURON DISEASE 1
MUCOLIPIDOSIS II; ML2; ML II25250015
MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C2526052
MUCOLIPIDOSIS IIIA25260011
MUCOLIPIDOSIS IV2526508
MUCOPOLYSACCHARIDOSIS TYPE II30990024
MUCOPOLYSACCHARIDOSIS TYPE IIIA25290016
MUCOPOLYSACCHARIDOSIS TYPE IIIB2529205
MUCOPOLYSACCHARIDOSIS TYPE IIIC2529302
MUCOPOLYSACCHARIDOSIS TYPE IIID2529402
MUCOPOLYSACCHARIDOSIS TYPE IVA2530004
MUCOPOLYSACCHARIDOSIS TYPE IVB2530105
MUCOPOLYSACCHARIDOSIS TYPE VI25320021
MUCOPOLYSACCHARIDOSIS TYPE VII2532208
MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS96014921
MULIBREY NANISM2532503
MULTI-FOCAL DYSTONIA 127
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN11311001
MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN21714007
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B1623001
MULTIPLE SCLEROSIS; MS12620015
MULTIPLE SULFATASE DEFICIENCY2722007
MULTIPLE SYSTEM ATROPHY 53
MULTIPLE VASCULAR DISRUPTION SYNDROME 1
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED 1
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD31020074
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A2536004
MUSCULAR DYSTROPHY, PROGRESSIVE WITH CNS INVOLVEMENT & RECESSIVE INHERITANCE 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 (WALKER-WARBURG SYNDROME INCLUDED)2366703
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2  1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA32532803
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 2
MYASTHENIA GRAVIS; MG2542008
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA2542101
MYELOMA, MULTIPLE AMYLOIDOSIS, PRIMARY, INCLUDED; AL, INCLUDED2545006
MYHRE SYNDROME; MYHRS1392102
MYOCLONIC EPILEPSY NEONATAL WITH SUPPRESSION-BURST PATTERN6093041
MYOCLONIC EPILEPSY OF LAFORA2547802
MYOCLONIC EPILEPSY, JUVENILE; EJM12547703
MYOCLONUS EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERFF5450002
MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA2551401
MYOPATHY, CENTRONUCLEAR, 1; CNM116015010
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD2553103
MYOTUBULAR MYOPATHY 1; MTM131040013