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2M3HBA see beta-ketothiolase deficiency
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3-M syndrome
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3MCC see 3-methylcrotonyl-coenzyme A carboxylase deficiency
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3MGA see 3-methylglutaconic aciduria
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M/SCHAD deficiency see 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
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MAA see Lenz microphthalmia syndrome
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MAD see glutaric acidemia type II
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MAD deficiency see adenosine monophosphate deaminase deficiency
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MADA deficiency see adenosine monophosphate deaminase deficiency
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Male Breast Cancer see breast cancer
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Male Pattern Alopecia see androgenetic alopecia
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Male Pattern Baldness see androgenetic alopecia
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male pseudohermaphroditism due to 5-alpha-reductase deficiency see 5-alpha reductase deficiency
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Male Turner Syndrome see Noonan syndrome
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malignant hyperthermia
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Malignant neoplasm of breast see breast cancer
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malignant tumor of breast see breast cancer
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Malignant tumor of urinary bladder see bladder cancer
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Malonic aciduria see malonyl-coenzyme A decarboxylase deficiency
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malonyl-CoA decarboxylase deficiency see malonyl-coenzyme A decarboxylase deficiency
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malonyl-coenzyme A decarboxylase deficiency
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Mammary cancer see breast cancer
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Mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome
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mannosidosis see alpha-mannosidosis
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maple syrup urine disease
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Marchesani syndrome see Weill-Marchesani syndrome
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Marchiafava-Micheli Syndrome see paroxysmal nocturnal hemoglobinuria
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Marfan syndrome
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Marie-Sainton syndrome see cleidocranial dysplasia
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Marie-Struempell Disease see ankylosing spondylitis
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Marinesco-Garland syndrome see Marinesco-Sjögren syndrome
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Marinesco-Sjögren syndrome
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Marker X syndrome see fragile X syndrome
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Martin-Bell Syndrome see fragile X syndrome
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MAS see McCune-Albright syndrome
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MASA syndrome see L1 syndrome
- MAT deficiency see beta-ketothiolase deficiency; hypermethioninemia
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2-MBADD see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
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2-MBCD deficiency see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
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2-MBG see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
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MCAD deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency
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MCADD see medium-chain acyl-coenzyme A dehydrogenase deficiency
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MCADH deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency
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McAlister dysplasia see atelosteogenesis type 2
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3-MCC see 3-methylcrotonyl-coenzyme A carboxylase deficiency
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MCC deficiency see 3-methylcrotonyl-coenzyme A carboxylase deficiency
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McCune-Albright syndrome
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MCD deficiency see malonyl-coenzyme A decarboxylase deficiency
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McKusick-Kaufman syndrome
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McKusick's metaphyseal chondrodysplasia syndrome see cartilage-hair hypoplasia
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MCL see hereditary leiomyomatosis and renal cell cancer
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McLeod neuroacanthocytosis syndrome
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MCOPS1 see Lenz microphthalmia syndrome
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MCOPS2 see oculofaciocardiodental syndrome
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MCPHA see Amish lethal microcephaly
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MCUL see hereditary leiomyomatosis and renal cell cancer
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MEA see multiple endocrine neoplasia
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MED see multiple epiphyseal dysplasia
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Mediterranean Anemia see beta thalassemia
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Mediterranean Fever, Familial see familial Mediterranean fever
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Mediterranean myoclonic epilepsy see Unverricht-Lundborg disease
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medium-chain acyl-coenzyme A dehydrogenase deficiency
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MEF see familial Mediterranean fever
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Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia
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megalencephalic leukoencephalopathy with subcortical cysts
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MELAS see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
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MELAS Syndrome see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
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Melnick-Fraser syndrome see branchiootorenal syndrome
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Melnick-Needles syndrome
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MEN see multiple endocrine neoplasia
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Menkea syndrome see Menkes syndrome
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Menkes syndrome
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Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum see FG syndrome
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mental retardation-overgrowth syndrome see Simpson-Golabi-Behmel syndrome
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Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome
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mental retardation, X-linked, with hypotonia see Allan-Herndon-Dudley syndrome
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MEPOP see mitochondrial neurogastrointestinal encephalopathy disease
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mesomelic dwarfism-small genitalia syndrome see Robinow syndrome
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MET see hypermethioninemia
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Metabolic Disorders
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metachromatic leukodystrophy
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Metaphyseal chondrodysplasia, McKusick type see cartilage-hair hypoplasia
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metaphyseal chondrodysplasia, recessive type see cartilage-hair hypoplasia
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Metaphyseal chondrodysplasia, Shwachman type see Shwachman-Diamond syndrome
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Metatropic dwarfism, type II see Kniest dysplasia
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Metatropic dysplasia type II see Kniest dysplasia
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Methemoglobinemia see methemoglobinemia, beta-globin type
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methemoglobinemia, beta-globin type
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2-methyl 3-hydroxy butyric aciduria see beta-ketothiolase deficiency
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2-methylbutyryl-coenzyme A dehydrogenase deficiency
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2-methylbutyryl glycinuria see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
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3-methylcrotonyl-CoA carboxylase deficiency see 3-methylcrotonyl-coenzyme A carboxylase deficiency
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3-methylcrotonyl-coenzyme A carboxylase deficiency
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Methylcrotonyl-CoA carboxylase deficiency see 3-methylcrotonyl-coenzyme A carboxylase deficiency
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3-methylcrotonylglycinuria see 3-methylcrotonyl-coenzyme A carboxylase deficiency
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3-methylglutaconic aciduria
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3-Methylhydroxybutyric acidemia see beta-ketothiolase deficiency
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methylmalonic acidemia
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MFS see Marfan syndrome
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MHAM see Cowden syndrome
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MHS - Malignant hyperthermia see malignant hyperthermia
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Microangiopathic hemolytic anemia see thrombotic thrombocytopenic purpura
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microcephaly, Amish type see Amish lethal microcephaly
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Microcephaly, Mental Retardation, and Distinct Facial Features, with or without Hirschsprung disease see Mowat-Wilson syndrome
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Microphthalmia, cataracts, radiculomegaly, and septal heart defects see oculofaciocardiodental syndrome
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microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome
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Microphthalmia, syndromic 2 see oculofaciocardiodental syndrome
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Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
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Migraine see familial hemiplegic migraine
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Migraine with Aura see familial hemiplegic migraine
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Milroy disease
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Minicore disease see multiminicore disease
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Minicore myopathy see multiminicore disease
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Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated see beta-ketothiolase deficiency
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Mitochondrial acetoacetyl-CoA thiolase deficiency see beta-ketothiolase deficiency
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Mitochondrial Diseases
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mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
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mitochondrial neurogastrointestinal encephalopathy disease
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mitochondrial trifunctional protein deficiency
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MK see Menkes syndrome
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MKS see McKusick-Kaufman syndrome
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MLC see megalencephalic leukoencephalopathy with subcortical cysts
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MLD see metachromatic leukodystrophy
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MMA see methylmalonic acidemia
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MmD see multiminicore disease
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MNGIE disease see mitochondrial neurogastrointestinal encephalopathy disease
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MNGIE syndrome see mitochondrial neurogastrointestinal encephalopathy disease
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MNK see Menkes syndrome
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MNS see Melnick-Needles syndrome
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Mohr-Tranebjærg syndrome see deafness-dystonia-optic neuronopathy syndrome
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molluscum fibrosum see juvenile hyaline fibromatosis
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monocarboxylate transporter 8 (MCT8) deficiency see Allan-Herndon-Dudley syndrome
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monosaccharide malabsorption see glucose-galactose malabsorption
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monosomy 4p see Wolf-Hirschhorn syndrome
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monosomy 5p see cri-du-chat syndrome
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17p11.2 monosomy see Smith-Magenis syndrome
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monosomy X see Turner syndrome
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Moschkowitz Disease see thrombotic thrombocytopenic purpura
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Motor Neuron Disease, Amyotrophic Lateral Sclerosis see amyotrophic lateral sclerosis
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Mount-Reback syndrome see familial paroxysmal nonkinesigenic dyskinesia
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Movement Disorders
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Mowat-Wilson syndrome
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MPD1 see Laing distal myopathy
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MPS I see mucopolysaccharidosis type I
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MPS II see mucopolysaccharidosis type II
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3-MSBN see 3-M syndrome
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MSS see Marinesco-Sjögren syndrome
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MSUD see maple syrup urine disease
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MTMX see X-linked myotubular myopathy
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MTP deficiency see mitochondrial trifunctional protein deficiency
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Muckle-Wells syndrome
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mucopolysaccharidosis type I
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mucopolysaccharidosis type II
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Mucoviscidosis see cystic fibrosis
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Muenke syndrome
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Multi-Infarct Dementia see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
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Multi-minicore disease see multiminicore disease
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Multicore disease see multiminicore disease
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Multicore myopathy see multiminicore disease
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multiminicore disease
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Multiple acyl-CoA dehydrogenase deficiency see glutaric acidemia type II
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Multiple Carboxylase Deficiency
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Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency
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Multiple Carboxylase Deficiency, Neonatal Form see holocarboxylase synthetase deficiency
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Multiple Cartilaginous Exostoses see hereditary multiple exostoses
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multiple cutaneous and uterine leiomyomata see hereditary leiomyomatosis and renal cell cancer
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multiple cutaneous leiomyoma see hereditary leiomyomatosis and renal cell cancer
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multiple endocrine neoplasia
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multiple epiphyseal dysplasia
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multiple FAD dehydrogenase deficiency see glutaric acidemia type II
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Multiple hamartoma syndrome see Cowden syndrome
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Multiple Hereditary Exostoses see hereditary multiple exostoses
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Multiple Osteochondromas see hereditary multiple exostoses
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Multiple osteochondromatosis see hereditary multiple exostoses
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Murray syndrome see juvenile hyaline fibromatosis
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Muscle Disorders
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Muscle form of carnitine palmitoyltransferase deficiency see carnitine palmitoyltransferase II deficiency
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Muscle hypertrophy syndrome see myostatin-related muscle hypertrophy
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Muscle Weakness see adenosine monophosphate deaminase deficiency
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Muscular Dystrophy
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Muscular dystrophy, congenital, Fukuyama type see Fukuyama congenital muscular dystrophy
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Muscular dystrophy, congenital progressive, with mental retardation see Fukuyama congenital muscular dystrophy
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Muscular dystrophy, congenital, with central nervous system involvement see Fukuyama congenital muscular dystrophy
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muscular dystrophy, Duchenne and Becker types see Duchenne and Becker muscular dystrophy
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Muscular Dystrophy, Emery-Dreifuss see Emery-Dreifuss muscular dystrophy
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Muscular dystrophy, limb-girdle, with Paget disease of bone see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
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Muscular Dystrophy, Oculopharyngeal see oculopharyngeal muscular dystrophy
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Muscular Dystrophy, Pseudohypertrophic see Duchenne and Becker muscular dystrophy
- MWS see Mowat-Wilson syndrome; Muckle-Wells syndrome
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myelinosis centralis diffusa see leukoencephalopathy with vanishing white matter
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MYH-associated polyposis see familial adenomatous polyposis
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myoadenylate deaminase deficiency see adenosine monophosphate deaminase deficiency
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myoclonic epilepsy of Unverricht and Lundborg see Unverricht-Lundborg disease
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Myoclonic epilepsy with choreoathetosis see dentatorubral-pallidoluysian atrophy
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Myoneurogastrointestinal encephalopathy syndrome see mitochondrial neurogastrointestinal encephalopathy disease
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Myopathies, Structural, Congenital
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Myopathy, Central Core see central core disease
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Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
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Myositis see fibrodysplasia ossificans progressiva
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Myositis Ossificans see fibrodysplasia ossificans progressiva
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myostatin-related muscle hypertrophy
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Myotonia atrophica see myotonic dystrophy
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myotonia congenita
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Myotonia dystrophica see myotonic dystrophy
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Myotonic Disorders
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myotonic dystrophy
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Myxedema, Congenital see congenital hypothyroidism
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Published: January 23, 2009