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2M3HBA see 17β-hydroxysteroid dehydrogenase type 10 deficiency
3-M syndrome
3MCC see 3-methylcrotonyl-coenzyme A carboxylase deficiency
3MGA see 3-methylglutaconic aciduria
M/SCHAD deficiency see 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
MAA see Lenz microphthalmia syndrome
MAD see glutaric acidemia type II
MAD deficiency see adenosine monophosphate deaminase deficiency
MADA deficiency see adenosine monophosphate deaminase deficiency
Majeed syndrome
Male Breast Cancer see breast cancer
Male Pattern Alopecia see androgenetic alopecia
Male Pattern Baldness see androgenetic alopecia
male pseudohermaphroditism due to 5-alpha-reductase deficiency see 5-alpha reductase deficiency
Male Turner Syndrome see Noonan syndrome
malignant hyperthermia
Malignant neoplasm of breast see breast cancer
malignant tumor of breast see breast cancer
Malignant tumor of urinary bladder see bladder cancer
Malonic aciduria see malonyl-coenzyme A decarboxylase deficiency
malonyl-CoA decarboxylase deficiency see malonyl-coenzyme A decarboxylase deficiency
malonyl-coenzyme A decarboxylase deficiency
Mammary cancer see breast cancer
Mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome
mannosidosis see alpha-mannosidosis
maple syrup urine disease
Marchesani syndrome see Weill-Marchesani syndrome
Marchiafava-Micheli Syndrome see paroxysmal nocturnal hemoglobinuria
Marfan syndrome
Marie-Sainton syndrome see cleidocranial dysplasia
Marie-Struempell Disease see ankylosing spondylitis
Marinesco-Garland syndrome see Marinesco-Sjögren syndrome
Marinesco-Sjögren syndrome
Marker X syndrome see fragile X syndrome
Martin-Bell Syndrome see fragile X syndrome
MAS see McCune-Albright syndrome
MASA syndrome see L1 syndrome
MAT deficiency see beta-ketothiolase deficiency; hypermethioninemia
Mayer-Rokitansky-Küster-Hauser-like syndrome see WNT4 Müllerian aplasia and ovarian dysfunction
2-MBADD see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
2-MBCD deficiency see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
2-MBG see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
MCAD deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency
MCADD see medium-chain acyl-coenzyme A dehydrogenase deficiency
MCADH deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency
McAlister dysplasia see atelosteogenesis type 2
3-MCC see 3-methylcrotonyl-coenzyme A carboxylase deficiency
MCC deficiency see 3-methylcrotonyl-coenzyme A carboxylase deficiency
McCune-Albright syndrome
MCD deficiency see malonyl-coenzyme A decarboxylase deficiency
McKusick-Kaufman syndrome
McKusick's metaphyseal chondrodysplasia syndrome see cartilage-hair hypoplasia
MCL see hereditary leiomyomatosis and renal cell cancer
McLeod neuroacanthocytosis syndrome
MCOPS1 see Lenz microphthalmia syndrome
MCOPS2 see oculofaciocardiodental syndrome
MCOPS7 see microphthalmia with linear skin defects syndrome
MCPHA see Amish lethal microcephaly
MCUL see hereditary leiomyomatosis and renal cell cancer
MEA see multiple endocrine neoplasia
MED see multiple epiphyseal dysplasia
mediterranean anemia see beta thalassemia
Mediterranean Fever, Familial see familial Mediterranean fever
Mediterranean myoclonic epilepsy see Unverricht-Lundborg disease
medium-chain acyl-coenzyme A dehydrogenase deficiency
MEF see familial Mediterranean fever
Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia
megalencephalic leukoencephalopathy with subcortical cysts
MELAS see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
MELAS Syndrome see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
Melnick-Fraser syndrome see branchiootorenal syndrome
Melnick-Needles syndrome
MEN see multiple endocrine neoplasia
Menkea syndrome see Menkes syndrome
Menkes syndrome
Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum see FG syndrome
mental retardation-overgrowth syndrome see Simpson-Golabi-Behmel syndrome
Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome
mental retardation, X-linked, with hypotonia see Allan-Herndon-Dudley syndrome
MEPOP see mitochondrial neurogastrointestinal encephalopathy disease
mesomelic dwarfism-small genitalia syndrome see Robinow syndrome
MET see hypermethioninemia
Metabolic Disorders
metachromatic leukodystrophy
Metaphyseal chondrodysplasia, McKusick type see cartilage-hair hypoplasia
metaphyseal chondrodysplasia, recessive type see cartilage-hair hypoplasia
Metaphyseal chondrodysplasia, Shwachman type see Shwachman-Diamond syndrome
Metatropic dwarfism, type II see Kniest dysplasia
Metatropic dysplasia type II see Kniest dysplasia
Methemoglobinemia see methemoglobinemia, beta-globin type
methemoglobinemia, beta-globin type
2-methyl-3-hydroxybutyric aciduria see 17β-hydroxysteroid dehydrogenase type 10 deficiency
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
2-methylbutyryl-coenzyme A dehydrogenase deficiency
2-methylbutyryl glycinuria see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
3-methylcrotonyl-CoA carboxylase deficiency see 3-methylcrotonyl-coenzyme A carboxylase deficiency
3-methylcrotonyl-coenzyme A carboxylase deficiency
Methylcrotonyl-CoA carboxylase deficiency see 3-methylcrotonyl-coenzyme A carboxylase deficiency
3-methylcrotonylglycinuria see 3-methylcrotonyl-coenzyme A carboxylase deficiency
3-methylglutaconic aciduria
3-Methylhydroxybutyric acidemia see beta-ketothiolase deficiency
methylmalonic acidemia
MFS see Marfan syndrome
MHAM see Cowden syndrome
MHBD deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
MHS - Malignant hyperthermia see malignant hyperthermia
Microangiopathic hemolytic anemia see thrombotic thrombocytopenic purpura
microcephaly, Amish type see Amish lethal microcephaly
Microcephaly, Mental Retardation, and Distinct Facial Features, with or without Hirschsprung disease see Mowat-Wilson syndrome
microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome see Feingold syndrome
microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome see Feingold syndrome
microcytemia, beta type see beta thalassemia
Microphthalmia, cataracts, radiculomegaly, and septal heart defects see oculofaciocardiodental syndrome
microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome
Microphthalmia, syndromic 2 see oculofaciocardiodental syndrome
microphthalmia with linear skin defects syndrome
Microphthalmos see microphthalmia with linear skin defects syndrome
Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
MIDAS syndrome see microphthalmia with linear skin defects syndrome
Migraine see familial hemiplegic migraine
Migraine with Aura see familial hemiplegic migraine
Milroy disease
Minicore disease see multiminicore disease
Minicore myopathy see multiminicore disease
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated see beta-ketothiolase deficiency
Mitochondrial acetoacetyl-CoA thiolase deficiency see beta-ketothiolase deficiency
Mitochondrial Diseases
mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria see succinate-coenzyme A ligase deficiency
mitochondrial DNA depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria see succinate-coenzyme A ligase deficiency
mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
mitochondrial neurogastrointestinal encephalopathy disease
mitochondrial trifunctional protein deficiency
MK see Menkes syndrome
MKS see McKusick-Kaufman syndrome
ML III see mucolipidosis III alpha/beta
ML IIIC see mucolipidosis III gamma
ML4 see mucolipidosis type IV
MLC see megalencephalic leukoencephalopathy with subcortical cysts
MLD see metachromatic leukodystrophy
MLII see mucolipidosis II alpha/beta
MLIV see mucolipidosis type IV
MLS syndrome see microphthalmia with linear skin defects syndrome
MMA see methylmalonic acidemia
MmD see multiminicore disease
MNGIE disease see mitochondrial neurogastrointestinal encephalopathy disease
MNGIE syndrome see mitochondrial neurogastrointestinal encephalopathy disease
MNK see Menkes syndrome
MNS see Melnick-Needles syndrome
Mohr-Tranebjærg syndrome see deafness-dystonia-optic neuronopathy syndrome
molluscum fibrosum see juvenile hyaline fibromatosis
monocarboxylate transporter 8 (MCT8) deficiency see Allan-Herndon-Dudley syndrome
monosaccharide malabsorption see glucose-galactose malabsorption
monosomy 1p36 syndrome see 1p36 deletion syndrome
monosomy 4p see Wolf-Hirschhorn syndrome
monosomy 5p see cri-du-chat syndrome
17p11.2 monosomy see Smith-Magenis syndrome
monosomy 22q13 see 22q13.3 deletion syndrome
monosomy X see Turner syndrome
Moschkowitz Disease see thrombotic thrombocytopenic purpura
Motor Neuron Disease, Amyotrophic Lateral Sclerosis see amyotrophic lateral sclerosis
Mount-Reback syndrome see familial paroxysmal nonkinesigenic dyskinesia
Movement Disorders
Mowat-Wilson syndrome
MPD1 see Laing distal myopathy
MPS I see mucopolysaccharidosis type I
MPS II see mucopolysaccharidosis type II
3-MSBN see 3-M syndrome
MSS see Marinesco-Sjögren syndrome
MSUD see maple syrup urine disease
MTMX see X-linked myotubular myopathy
MTP deficiency see mitochondrial trifunctional protein deficiency
Muckle-Wells syndrome
mucocutaneous venous malformations see multiple cutaneous and mucosal venous malformations
mucolipidosis II alpha/beta
mucolipidosis III alpha/beta
mucolipidosis III gamma
mucolipidosis type IV
mucopolysaccharidosis type I
mucopolysaccharidosis type II
Mucoviscidosis see cystic fibrosis
Muenke syndrome
Mullerian aplasia and hyperandrogenism see WNT4 Müllerian aplasia and ovarian dysfunction
Müllerian duct failure see WNT4 Müllerian aplasia and ovarian dysfunction
Multi-Infarct Dementia see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Multi-minicore disease see multiminicore disease
Multicore disease see multiminicore disease
Multicore myopathy see multiminicore disease
multiminicore disease
Multiple acyl-CoA dehydrogenase deficiency see glutaric acidemia type II
Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency
Multiple Carboxylase Deficiency, Neonatal Form see holocarboxylase synthetase deficiency
Multiple Cartilaginous Exostoses see hereditary multiple exostoses
multiple cutaneous and mucosal venous malformations
multiple cutaneous and uterine leiomyomata see hereditary leiomyomatosis and renal cell cancer
multiple cutaneous leiomyoma see hereditary leiomyomatosis and renal cell cancer
multiple endocrine neoplasia
multiple epiphyseal dysplasia
multiple FAD dehydrogenase deficiency see glutaric acidemia type II
Multiple hamartoma syndrome see Cowden syndrome
Multiple Hereditary Exostoses see hereditary multiple exostoses
Multiple Osteochondromas see hereditary multiple exostoses
Multiple osteochondromatosis see hereditary multiple exostoses
Murray syndrome see juvenile hyaline fibromatosis
Muscle Disorders
Muscle form of carnitine palmitoyltransferase deficiency see carnitine palmitoyltransferase 2 deficiency
Muscle hypertrophy syndrome see myostatin-related muscle hypertrophy
Muscular Dystrophy
Muscular dystrophy, congenital, Fukuyama type see Fukuyama congenital muscular dystrophy
Muscular dystrophy, congenital progressive, with mental retardation see Fukuyama congenital muscular dystrophy
Muscular dystrophy, congenital, with central nervous system involvement see Fukuyama congenital muscular dystrophy
muscular dystrophy, Duchenne and Becker types see Duchenne and Becker muscular dystrophy
Muscular Dystrophy, Emery-Dreifuss see Emery-Dreifuss muscular dystrophy
Muscular Dystrophy, Facioscapulohumeral see facioscapulohumeral muscular dystrophy
Muscular Dystrophy, Landouzy Dejerine see facioscapulohumeral muscular dystrophy
Muscular dystrophy, limb-girdle, with Paget disease of bone see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Muscular Dystrophy, Oculopharyngeal see oculopharyngeal muscular dystrophy
Muscular Dystrophy, Pseudohypertrophic see Duchenne and Becker muscular dystrophy
MWS see Mowat-Wilson syndrome; Muckle-Wells syndrome
myelinosis centralis diffusa see leukoencephalopathy with vanishing white matter
MYH-associated polyposis see familial adenomatous polyposis
myoadenylate deaminase deficiency see adenosine monophosphate deaminase deficiency
myoclonic dystonia see myoclonus-dystonia
myoclonic epilepsy of Lafora see Lafora progressive myoclonus epilepsy
myoclonic epilepsy of Unverricht and Lundborg see Unverricht-Lundborg disease
Myoclonic epilepsy with choreoathetosis see dentatorubral-pallidoluysian atrophy
myoclonus-dystonia
Myoneurogastrointestinal encephalopathy syndrome see mitochondrial neurogastrointestinal encephalopathy disease
Myopathies, Structural, Congenital
Myopathy, Central Core see central core disease
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
Myositis see fibrodysplasia ossificans progressiva
Myositis Ossificans see fibrodysplasia ossificans progressiva
myostatin-related muscle hypertrophy
myotonia atrophica see myotonic dystrophy
myotonia congenita
myotonia dystrophica see myotonic dystrophy
Myotonic Disorders
myotonic dystrophy
Myxedema, Congenital see congenital hypothyroidism


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