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2M3HBA see 17β-hydroxysteroid dehydrogenase type 10 deficiency
3-M syndrome
3MCC see 3-methylcrotonyl-CoA carboxylase deficiency
3MGA see 3-methylglutaconic aciduria
M/SCHAD deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
M3 ANLL see acute promyelocytic leukemia
MAA see Lenz microphthalmia syndrome
Machado-Joseph disease see spinocerebellar ataxia type 3
Macular Degeneration see age-related macular degeneration; Stargardt macular degeneration; vitelliform macular dystrophy
macular degeneration, age-related see age-related macular degeneration
macular dystrophy with flecks, type 1 see Stargardt macular degeneration
MAD see glutaric acidemia type II
MAD deficiency see adenosine monophosphate deaminase deficiency
MADA deficiency see adenosine monophosphate deaminase deficiency
Maeda syndrome see cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Maffucci syndrome
Mainzer-Saldino syndrome
Majeed syndrome
Majewski osteodysplastic primordial dwarfism type II see microcephalic osteodysplastic primordial dwarfism type II
Malabsorption Syndromes
Male Breast Cancer see breast cancer
male hypergonadotropic hypogonadism due to LHCGR defect see Leydig cell hypoplasia
Male Infertility
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
Malherbe calcifying epithelioma see pilomatricoma
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-CoA decarboxylase deficiency
malonyl-CoA decarboxylase deficiency
malonyl-coenzyme A decarboxylase deficiency see malonyl-CoA decarboxylase deficiency
Mammary cancer see breast cancer
mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome
Manitoba oculotrichoanal syndrome
mannose-binding lectin deficiency
mannosidosis see alpha-mannosidosis
maple syrup urine disease
marble bone disease see osteopetrosis
Marchesani syndrome see Weill-Marchesani syndrome
Marchiafava-Micheli Syndrome see paroxysmal nocturnal hemoglobinuria
Marfan syndrome
Marfanoid-craniosynostosis syndrome see Shprintzen-Goldberg 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
Marles-Greenberg-Persaud syndrome see Manitoba oculotrichoanal syndrome
Marles syndrome see Manitoba oculotrichoanal syndrome
Maroteaux-Lamy Syndrome see mucopolysaccharidosis type VI
Martin-Bell syndrome see fragile X syndrome
MAS see McCune-Albright syndrome
MASA syndrome see L1 syndrome
MAT deficiency see beta-ketothiolase deficiency; hypermethioninemia
maternally inherited diabetes and deafness
matrin 3 distal myopathy see distal myopathy 2
Mayer-Rokitansky-Küster-Hauser-like syndrome see WNT4 Müllerian aplasia and ovarian dysfunction
Mayer-Rokitansky-Küster-Hauser syndrome
2-MBADD see 2-methylbutyryl-CoA dehydrogenase deficiency
2-MBCD deficiency see 2-methylbutyryl-CoA dehydrogenase deficiency
2-MBG see 2-methylbutyryl-CoA dehydrogenase deficiency
MBL deficiency see mannose-binding lectin deficiency
MBL2 deficiency see mannose-binding lectin deficiency
MBP deficiency see mannose-binding lectin deficiency
MCAD deficiency see medium-chain acyl-CoA dehydrogenase deficiency
MCADD see medium-chain acyl-CoA dehydrogenase deficiency
MCADH deficiency see medium-chain acyl-CoA dehydrogenase deficiency
McAlister dysplasia see atelosteogenesis type 2
McArdle disease see glycogen storage disease type V
McArdle syndrome see glycogen storage disease type V
McArdle type glycogen storage disease see glycogen storage disease type V
3-MCC see 3-methylcrotonyl-CoA carboxylase deficiency
MCC deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
McCune-Albright syndrome
MCD deficiency see malonyl-CoA decarboxylase deficiency
MCHS see childhood myocerebrohepatopathy spectrum
MCKD2 see uromodulin-associated kidney disease
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
MCPH see autosomal recessive primary microcephaly
MCPHA see Amish lethal microcephaly
MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency see Allan-Herndon-Dudley syndrome
MCUL see hereditary leiomyomatosis and renal cell cancer
MDR3 deficiency see progressive familial intrahepatic cholestasis
MDS see Miller-Dieker syndrome
MEA see multiple endocrine neoplasia
MECD see Meesmann corneal dystrophy
Meckel syndrome
MECP2 duplication syndrome
MECP2-related severe neonatal encephalopathy
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-CoA dehydrogenase deficiency
Medullary cystic kidney disease type 2 see uromodulin-associated kidney disease
Meesmann corneal dystrophy
MEF see familial Mediterranean fever
Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia
megalencephalic leukoencephalopathy with subcortical cysts
Meige lymphedema
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
membranoproliferative glomerulonephritis type II see dense deposit disease
MEMSA see myoclonic epilepsy myopathy sensory ataxia
MEN see multiple endocrine neoplasia
Ménière disease
Meniere's Disease see Ménière disease
Menkea syndrome see Menkes syndrome
Menkes syndrome
Mental Disorders
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 hypoplastic fifth fingernails and toenails see Coffin-Siris syndrome
Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome
Mental Retardation, X-Linked
mental retardation, X-linked, with hypotonia see Allan-Herndon-Dudley syndrome
MEPOP see mitochondrial neurogastrointestinal encephalopathy disease
Meretoja syndrome see lattice corneal dystrophy type II
MERRF see myoclonic epilepsy with ragged-red fibers
MERRF Syndrome see myoclonic epilepsy with ragged-red fibers
mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type see Langer mesomelic dysplasia
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
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-CoA dehydrogenase deficiency
2-methylbutyryl-coenzyme A dehydrogenase deficiency see 2-methylbutyryl-CoA dehydrogenase deficiency
2-methylbutyryl glycinuria see 2-methylbutyryl-CoA dehydrogenase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonyl-coenzyme A carboxylase deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
Methylcrotonyl-CoA carboxylase deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonylglycinuria see 3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
3-Methylhydroxybutyric acidemia see beta-ketothiolase deficiency
methylmalonic acidemia
Meulengracht syndrome see Gilbert syndrome
mevalonate kinase deficiency
mevalonic aciduria see mevalonate kinase deficiency
mevalonicaciduria see mevalonate kinase deficiency
MFS see Marfan syndrome
MFT see multiple familial trichoepithelioma
MG see myasthenia gravis
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
microcephalic osteodysplastic primordial dwarfism type II
Microcephaly
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
microcephaly primary hereditary see autosomal recessive primary microcephaly
microcytemia, beta type see beta thalassemia
1q21.1 microdeletion
9q22.3 microdeletion
9q34.3 microdeletion syndrome see Kleefstra syndrome
15q13.3 microdeletion
15q24 microdeletion
17q21.31 microdeletion syndrome see Koolen-de Vries syndrome
microphthalmia
Microphthalmia, cataracts, radiculomegaly, and septal heart defects see oculofaciocardiodental syndrome
microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome
microphthalmia, syndromic 1 see Lenz microphthalmia syndrome
Microphthalmia, syndromic 2 see oculofaciocardiodental syndrome
microphthalmia with linear skin defects syndrome
microphthalmos see microphthalmia; microphthalmia with linear skin defects syndrome
Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
MIDAS syndrome see microphthalmia with linear skin defects syndrome
MIDD see maternally inherited diabetes and deafness
Migraine
Migraine with Aura see familial hemiplegic migraine
milk sugar intolerance see lactose intolerance
Miller-Dieker syndrome
Miller syndrome
Milroy disease
Minicore disease see multiminicore disease
Minicore myopathy see multiminicore disease
MIRAS see ataxia neuropathy spectrum
misalignment of the pulmonary vessels see alveolar capillary dysplasia with misalignment of pulmonary veins
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated see beta-ketothiolase deficiency
Mitochondrial acetoacetyl-CoA thiolase deficiency see beta-ketothiolase deficiency
mitochondrial aspartyl-tRNA synthetase deficiency see leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
mitochondrial complex IV deficiency see cytochrome c oxidase deficiency
Mitochondrial Diseases
mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria see succinate-CoA ligase deficiency
mitochondrial DNA depletion syndrome 6 see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
mitochondrial DNA depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria see succinate-CoA ligase deficiency
mitochondrial DNA depletion syndrome, hepatocerebral form see deoxyguanosine kinase deficiency
mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
mitochondrial inherited diabetes and deafness see maternally inherited diabetes and deafness
Mitochondrial Myopathies
mitochondrial neurogastrointestinal encephalopathy disease
mitochondrial recessive ataxia syndrome see ataxia neuropathy spectrum
mitochondrial trifunctional protein deficiency
MJD see spinocerebellar ataxia type 3
MK see Menkes syndrome
MKS see McKusick-Kaufman syndrome; Meckel 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
Möbius sequence see Moebius syndrome
Mobius syndrome see Moebius syndrome
Moebius syndrome
Mohr-Tranebjærg syndrome see deafness-dystonia-optic neuronopathy syndrome
molluscum fibrosum see juvenile hyaline fibromatosis
monilethrix
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 17q21.31 see Koolen-de Vries syndrome
monosomy 22q13 see 22q13.3 deletion syndrome
monosomy X see Turner syndrome
MOPD2 see microcephalic osteodysplastic primordial dwarfism type II
MOPDII see microcephalic osteodysplastic primordial dwarfism type II
morbus Dercum see adiposis dolorosa
Morquio-Brailsford disease see mucopolysaccharidosis type IV
Morquio Disease see mucopolysaccharidosis type IV
Morquio Syndrome see mucopolysaccharidosis type IV
Morvan disease see hereditary sensory and autonomic neuropathy type II
Moschkowitz Disease see thrombotic thrombocytopenic purpura
MOTA see Manitoba oculotrichoanal syndrome
moth-eaten skeletal dysplasia see Greenberg dysplasia
motor neuron disease, amyotrophic lateral sclerosis see amyotrophic lateral sclerosis
Mount-Reback syndrome see familial paroxysmal nonkinesigenic dyskinesia
Movement Disorders
Mowat-Wilson syndrome
Moynahan syndrome see multiple lentigines syndrome
MPD1 see Laing distal myopathy
MPD2 see distal myopathy 2
MPGNII see dense deposit disease
MPRM see hereditary myopathy with early respiratory failure
MPS I see mucopolysaccharidosis type I
MPS II see mucopolysaccharidosis type II
MPS III see mucopolysaccharidosis type III
MPS IV see mucopolysaccharidosis type IV
MPS VI see mucopolysaccharidosis type VI
MPS VII see mucopolysaccharidosis type VII
MPS6 see mucopolysaccharidosis type VI
MPS7 see mucopolysaccharidosis type VII
MPV17-associated hepatocerebral MDS see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
MRI Scans see Leigh syndrome
MRKH syndrome see Mayer-Rokitansky-Küster-Hauser syndrome
MS see multiple sclerosis
MSA see multiple system atrophy
3-MSBN see 3-M syndrome
MSS see Marinesco-Sjögren syndrome
MSUD see maple syrup urine disease
MTDPS6 see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
MTMX see X-linked myotubular myopathy
MTP deficiency see mitochondrial trifunctional protein deficiency
Muckle-Wells syndrome
mucocutaneous lymph node syndrome see Kawasaki disease
mucocutaneous venous malformations see multiple cutaneous and mucosal venous malformations
mucolipidosis I see sialidosis
mucolipidosis II alpha/beta
mucolipidosis III alpha/beta
mucolipidosis III gamma
mucolipidosis type I see sialidosis
mucolipidosis type IV
mucopolysaccharidosis type I
mucopolysaccharidosis type II
mucopolysaccharidosis type III
mucopolysaccharidosis type IV
mucopolysaccharidosis type VI
mucopolysaccharidosis type VII
mucoviscidosis see cystic fibrosis
Muenke syndrome
Mullerian aplasia see Mayer-Rokitansky-Küster-Hauser syndrome
Mullerian aplasia and hyperandrogenism see WNT4 Müllerian aplasia and ovarian dysfunction
Müllerian duct failure see WNT4 Müllerian aplasia and ovarian dysfunction
Mullerian dysgenesis see Mayer-Rokitansky-Küster-Hauser syndrome
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 angiomas and endochondromas see Maffucci syndrome
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 familial trichoepithelioma
multiple hamartoma syndrome see Cowden syndrome
multiple hereditary exostoses see hereditary multiple exostoses
multiple lentigines syndrome
multiple osteochondromas see hereditary multiple exostoses
multiple osteochondromatosis see hereditary multiple exostoses
multiple pterygium syndrome
multiple sclerosis
multiple sebaceous cysts see steatocystoma multiplex
multiple system atrophy
multiplex steatocystoma see steatocystoma multiplex
Murray syndrome see juvenile hyaline fibromatosis
muscle AMP deaminase deficiency see adenosine monophosphate deaminase deficiency
Muscle Cramps see hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Muscle Disorders
muscle glycogen phosphorylase deficiency see glycogen storage disease type V
Muscle hypertrophy syndrome see myostatin-related muscle hypertrophy
muscle phosphorylase deficiency see glycogen storage disease type V
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
musculoaponeurotic fibromatosis see desmoid tumor
mutilating keratoderma see Vohwinkel syndrome
MWS see Mowat-Wilson syndrome; Muckle-Wells syndrome
myasthenia gravis
mycosis fungoides
myelinosis centralis diffusa see leukoencephalopathy with vanishing white matter
Myelodysplastic Syndromes
myelofibrosis with myeloid metaplasia see primary myelofibrosis
myeloid leukemia, acute, M3 see acute promyelocytic leukemia
myeloid metaplasia see primary myelofibrosis
MYH-associated polyposis see familial adenomatous polyposis
MYH9-related disorder
MYH9RD see MYH9-related disorder
Myhre-Riley-Smith syndrome see Bannayan-Riley-Ruvalcaba syndrome
Myhre syndrome
myoadenylate deaminase deficiency see adenosine monophosphate deaminase deficiency
myoclonic dystonia see myoclonus-dystonia
Myoclonic Epilepsies, Progressive
myoclonic epilepsy myopathy sensory ataxia
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
myoclonic epilepsy with ragged-red fibers
myoclonus cherry red spot syndrome see sialidosis
myoclonus-dystonia
Myoencephalopathy ragged-red fiber disease see myoclonic epilepsy with ragged-red fibers
myofibrillar myopathy
myoglobinuria due to abnormal glycolysis see myopathy with deficiency of iron-sulfur cluster assembly enzyme
Myoneurogastrointestinal encephalopathy syndrome see mitochondrial neurogastrointestinal encephalopathy disease
myopathia distalis type 2 see distal myopathy 2
myopathic limb-girdle syndrome see limb-girdle muscular dystrophy
myopathies, nemaline see nemaline myopathy
Myopathies, Structural, Congenital
Myopathy, Central Core see central core disease
myopathy due to phosphoglycerate mutase deficiency see phosphoglycerate mutase deficiency
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
myopathy, nemaline see nemaline myopathy
myopathy, proximal, with early respiratory muscle involvement see hereditary myopathy with early respiratory failure
myopathy with deficiency of iron-sulfur cluster assembly enzyme
myophosphorylase deficiency see glycogen storage disease type V
myosin storage myopathy
Myositis
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
myotubular myopathy see centronuclear myopathy
Myxedema, Congenital see congenital hypothyroidism
MZSDS see Mainzer-Saldino syndrome


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