MACROCEPHALY(OMIM機械翻訳)
HYPOMAGNESEMIA, PRIMARY(OMIM機械翻訳)
MALPUECH FACIAL CLEFTING SYNDROME(OMIM機械翻訳)
MAPLE SYRUP URINE DISEASE, TYPE IA(OMIM機械翻訳)
MAPLE SYRUP URINE DISEASE, TYPE II(OMIM機械翻訳)
MAPLE SYRUP URINE DISEASE, TYPE IB(OMIM機械翻訳)
MARDEN-WALKER SYNDROME(OMIM機械翻訳)
MARINESCO-SJOGREN SYNDROME; MSS(OMIM機械翻訳)
MARINESCO-SJOGREN-LIKE SYNDROME; MSLS(OMIM機械翻訳)
MCDONOUGH SYNDROME(OMIM機械翻訳)
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME(OMIM機械翻訳)
MEGAEPIPHYSEAL DWARFISM(OMIM機械翻訳)
MEGALOCORNEA-MENTAL RETARDATION SYNDROME(OMIM機械翻訳)
MELANOSIS, NEUROCUTANEOUS(OMIM機械翻訳)
MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS, AND HYPOPLASTIC TEETH(OMIM機械翻訳)
LANGER MESOMELIC DYSPLASIA(OMIM機械翻訳)
METAPHYSEAL ACROSCYPHODYSPLASIA(OMIM機械翻訳)
CARTILAGE-HAIR HYPOPLASIA; CHH(OMIM機械翻訳)
METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE(OMIM機械翻訳)
METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA(OMIM機械翻訳)
METATROPIC DWARFISM(OMIM機械翻訳)
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE(OMIM機械翻訳)
METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE DEFICIENCY(OMIM機械翻訳)
METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A(OMIM機械翻訳)
MEVALONATE KINASE; MVK(OMIM機械翻訳)
MICROCEPHALY-CARDIOMYOPATHY(OMIM機械翻訳)
MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA(OMIM機械翻訳)
MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES(OMIM機械翻訳)
NIJMEGEN BREAKAGE SYNDROME(OMIM機械翻訳)
MICROCEPHALY WITH SPASTIC QUADRIPLEGIA(OMIM機械翻訳)
PSEUDO-TORCH SYNDROME(OMIM機械翻訳)
MICROCEPHALY, HIATUS HERNIA, AND NEPHROTIC SYNDROME(OMIM機械翻訳)
MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS(OMIM機械翻訳)
MICROVILLUS INCLUSION DISEASE(OMIM機械翻訳)
COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF(OMIM機械翻訳)
MOHR SYNDROME(OMIM機械翻訳)
MUCOLIPIDOSIS II(OMIM機械翻訳)
MUCOLIPIDOSIS III(OMIM機械翻訳)
MUCOPOLYSACCHARIDOSIS TYPE IIIA(OMIM機械翻訳)
MUCOPOLYSACCHARIDOSIS TYPE IIIB(OMIM機械翻訳)
MUCOPOLYSACCHARIDOSIS TYPE IIIC(OMIM機械翻訳)
MUCOPOLYSACCHARIDOSIS TYPE IIID(OMIM機械翻訳)
MUCOPOLYSACCHARIDOSIS TYPE IVA(OMIM機械翻訳)
MULIBREY NANISM(OMIM機械翻訳)
BIOTINIDASE; BTD(OMIM機械翻訳)
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE(OMIM機械翻訳)
SPINAL MUSCULAR ATROPHY I; SMA1(OMIM機械翻訳)
LETHAL CONGENITAL CONTRACTURE SYNDROME(OMIM機械翻訳)
SPINAL MUSCULAR ATROPHY III; SMA3(OMIM機械翻訳)
SPINAL MUSCULAR ATROPHY II; SMA2(OMIM機械翻訳)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B(OMIM機械翻訳)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C(OMIM機械翻訳)
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD(OMIM機械翻訳)
MYCOSIS FUNGOIDES(OMIM機械翻訳)
MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1(OMIM機械翻訳)
MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG(OMIM機械翻訳)
MYOPATHY, CONGENITAL(OMIM機械翻訳)
SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1(OMIM機械翻訳)
MYXOMA, INTRACARDIAC(OMIM機械翻訳)
NASODIGITOACOUSTIC SYNDROME(OMIM機械翻訳)
NATHALIE SYNDROME(OMIM機械翻訳)
NATIVE AMERICAN MYOPATHY(OMIM機械翻訳)
LEIGH SYNDROME; LS(OMIM機械翻訳)
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2(OMIM機械翻訳)
NAKAJO SYNDROME(OMIM機械翻訳)
NEONATAL OSSEOUS DYSPLASIA I(OMIM機械翻訳)
NEPHRONOPHTHISIS 1; NPHP1(OMIM機械翻訳)
NEPHROPATHY, DEAFNESS, AND HYPERPARATHYROIDISM(OMIM機械翻訳)
NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS(OMIM機械翻訳)
NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1(OMIM機械翻訳)
NESIDIOBLASTOSIS OF PANCREAS(OMIM機械翻訳)
NETHERTON SYNDROME; NETH(OMIM機械翻訳)
NEU-LAXOVA SYNDROME; NLS(OMIM機械翻訳)
NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY(OMIM機械翻訳)
NEURAMINIDASE DEFICIENCY(OMIM機械翻訳)
NEUROAXONAL DYSTROPHY, INFANTILE(OMIM機械翻訳)
NEUROFACIODIGITORENAL SYNDROME(OMIM機械翻訳)
NEUROBLASTOMA(OMIM機械翻訳)
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1(OMIM機械翻訳)
CEROID LIPOFUSCINOSIS, NEURONAL 5; CLN5(OMIM機械翻訳)
NEUROPATHY, CONGENITAL SENSORY, WITH NEUROTROPHIC KERATITIS(OMIM機械翻訳)
GIANT AXONAL NEUROPATHY 1; GAN1(OMIM機械翻訳)
NIEMANN-PICK DISEASE(OMIM機械翻訳)
NIEMANN-PICK DISEASE, TYPE C(OMIM機械翻訳)
NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY(OMIM機械翻訳)
NONDISJUNCTION(OMIM機械翻訳)
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE(OMIM機械翻訳)
NUCHAL BLEB, FAMILIAL(OMIM機械翻訳)
OEIS COMPLEX(OMIM機械翻訳)
#(OMIM機械翻訳)
OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL(OMIM機械翻訳)
ORAL AND DIGITAL ANOMALIES WITH ICHTHYOSIS(OMIM機械翻訳)
ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV(OMIM機械翻訳)
OROTICACIDURIA I(OMIM機械翻訳)
OSTEOGENIC SARCOMA(OMIM機械翻訳)
OSTEOPENIA AND SPARSE HAIR(OMIM機械翻訳)
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG(OMIM機械翻訳)
5-@OXOPROLINASE DEFICIENCY(OMIM機械翻訳)
PALANT CLEFT PALATE SYNDROME(OMIM機械翻訳)
SHWACHMAN-DIAMOND SYNDROME; SDS(OMIM機械翻訳)
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