Genetic diseases-M

• M-CM, see Megalencephaly-capillary malformation syndrome
• M/SCHAD deficiency, see 3-hydroxyacyl-CoA dehydrogenase deficiency
• M3 ANLL, see Acute promyelocytic leukemia
• MAA, see Lenz microphthalmia syndrome
• Mabry syndrome
• Machado-Joseph disease, see Spinocerebellar ataxia type 3
• macrocephaly cutis marmorata telangiectatica congenita, see Megalencephaly-capillary malformation syndrome
• macrocephaly, seizures, intellectual disability, umbilical hernia, and facial dysmorphism, see Smith-Kingsmore syndrome
• macrocephaly-capillary malformation syndrome, see Megalencephaly-capillary malformation syndrome
• macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, see Smith-Kingsmore syndrome
• macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies, see KBG syndrome
• macroglobulinemia of Waldenstrom, see Waldenström macroglobulinemia
• macrothrombocytopenia, familial Bernard-Soulier type, see Bernard-Soulier syndrome
• Macrozoospermia
• 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
• MADD, see Glutaric acidemia type II
• Maeda syndrome, see Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
• Maffucci syndrome
• Mainzer-Saldino chondrodysplasia, see Mainzer-Saldino syndrome
• Mainzer-Saldino disease, see Mainzer-Saldino syndrome
• Mainzer-Saldino syndrome
• Majeed syndrome
• Majewski osteodysplastic primordial dwarfism type II, see Microcephalic osteodysplastic primordial dwarfism type II
• major depression, see Depression
• major depressive disorder, see Depression
• major depressive disorder with a seasonal pattern, see Seasonal affective disorder
• major histocompatibility complex class II deficiency, see Bare lymphocyte syndrome type II
• Mal de Meleda
• male hypergonadotropic hypogonadism due to LHCGR defect, see Leydig cell hypoplasia
• 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 aphthosis, see Behçet disease
• Malignant Hyperpyrexia, see Malignant hyperthermia
• Malignant hyperthermia
• malignant lung tumor, see Lung cancer
• malignant melanoma, see Melanoma
• malignant migrating partial epilepsy of infancy, see Malignant migrating partial seizures of infancy
• Malignant migrating partial seizures of infancy
• malignant neoplasm of breast, see Breast cancer
• malignant neoplasm of lung, see Lung cancer
• malignant neoplasm of parathyroid, see Parathyroid cancer
• malignant neoplasm of parathyroid gland, see Parathyroid cancer
• malignant neoplasm of the ovary, see Ovarian cancer
• malignant neoplasm of the prostate, see Prostate cancer
• malignant parathyroid gland neoplasm, see Parathyroid cancer
• malignant parathyroid gland tumor, see Parathyroid cancer
• malignant parathyroid neoplasm, see Parathyroid cancer
• malignant parathyroid tumor, see Parathyroid cancer
• malignant tumor of breast, see Breast cancer
• malignant tumor of lung, see Lung cancer
• malignant tumor of parathyroid, see Parathyroid cancer
• malignant tumor of parathyroid gland, see Parathyroid cancer
• malignant tumor of the ovary, see Ovarian 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
• Malpuech facial clefting syndrome, see 3MC syndrome
• Malpuech syndrome, see 3MC syndrome
• mammary cancer, see Breast cancer
• MAND, see MBD5-associated neurodevelopmental disorder
• mandibuloacral dysostosis, see Mandibuloacral dysplasia
• Mandibuloacral dysplasia
• mandibulofacial dysostosis (MFD1), see Treacher Collins syndrome
• Mandibulofacial dysostosis with microcephaly
• mandibulofacial dysostosis, Guion-Almeida type, see Mandibulofacial dysostosis with microcephaly
• manic depressive illness, see Bipolar disorder
• Manitoba oculotrichoanal syndrome
• Mannose-binding lectin deficiency
• mannose-binding lectin protein deficiency, see Mannose-binding lectin deficiency
• mannose-binding protein deficiency, see Mannose-binding lectin deficiency
• mannosidosis, see Alpha-mannosidosis
• mannosyltransferase 1 deficiency, see ALG1-congenital disorder of glycosylation
• Maple syrup urine disease
• maple syrup urine disease, type III, see Dihydrolipoamide dehydrogenase deficiency
• marble bone disease, see Osteopetrosis
• Marchesani syndrome, see Weill-Marchesani syndrome
• Marchesani-Weill Syndrome, see Weill-Marchesani syndrome
• Marchiafava-Micheli Syndrome, see Paroxysmal nocturnal hemoglobinuria
• Marfan syndrome
• Marfan's syndrome, see 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
• Marles-Greenberg-Persaud syndrome, see Manitoba oculotrichoanal syndrome
• Maroteaux-Lamy Syndrome, see Mucopolysaccharidosis type VI
• Martin-Bell syndrome, see Fragile X syndrome
• MAS, see McCune-Albright syndrome
• mast cell disease, systemic, see Systemic mastocytosis
• mastocytosis, systemic, see Systemic mastocytosis
• MAT deficiency, see Beta-ketothiolase deficiency
• MAT deficiency, see Hypermethioninemia
• Maternally inherited diabetes and deafness
• maternally transmitted diabetes-deafness syndrome, see Maternally inherited diabetes and deafness
• matrin 3 distal myopathy, see Distal myopathy 2
• maturity-onset diabetes, see Type 2 diabetes
• maturity-onset diabetes mellitus, see Type 2 diabetes
• Mayer-Rokitansky-Küster-Hauser syndrome
• Mayer-Rokitansky-Küster-Hauser-Biason-Lauber syndrome, see Müllerian aplasia and hyperandrogenism
• Mayer-Rokitansky-Küster-Hauser-like syndrome, see Müllerian aplasia and hyperandrogenism
• MBD5 haploinsufficiency, see MBD5-associated neurodevelopmental disorder
• MBD5-associated neurodevelopmental disorder
• 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
• MCAP, see Megalencephaly-capillary malformation syndrome
• 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
• McArdle's disease, see Glycogen storage disease type V
• 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's metaphyseal chondrodysplasia syndrome, see Cartilage-hair hypoplasia
• McKusick-Kaufman syndrome
• MCL, see Hereditary leiomyomatosis and renal cell cancer
• McLeod neuroacanthocytosis syndrome
• McLeod syndrome, see McLeod neuroacanthocytosis syndrome
• MCMTC, see Megalencephaly-capillary malformation 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
• MCSZ, see Microcephaly, seizures, and developmental delay
• MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency, see Allan-Herndon-Dudley syndrome
• MCUL, see Hereditary leiomyomatosis and renal cell cancer
• MDA5 deficiency
• MDC1A, see LAMA2-related muscular dystrophy
• MDCL, see LMNA-related congenital muscular dystrophy
• MDD, see Depression
• MDDGA, see Walker-Warburg syndrome
• MDR3 deficiency, see Progressive familial intrahepatic cholestasis
• MDS, see Miller-Dieker syndrome
• MEA, see Multiple endocrine neoplasia
• MECD, see Meesmann corneal dystrophy
• Meckel syndrome
• Meckel-Gruber syndrome, see Meckel syndrome
• MECP2 duplication syndrome
• MECP2-related severe neonatal encephalopathy
• MED, see Multiple epiphyseal dysplasia
• MED13L haploinsufficiency syndrome, see MED13L syndrome
• MED13L syndrome
• MED13L-related intellectual disability, see MED13L syndrome
• medial coronary sclerosis of infancy, see Generalized arterial calcification of infancy
• median facial cleft syndrome, see Frontonasal dysplasia
• median neuropathy, carpal tunnel, see Carpal tunnel syndrome
• Mediterranean anemia, see Beta thalassemia
• Mediterranean myoclonic epilepsy, see Unverricht-Lundborg disease
• medium chain acyl-CoA dehydrogenase deficiency, see Medium-chain acyl-CoA dehydrogenase deficiency
• Medium-chain acyl-CoA dehydrogenase deficiency
• medium-chain acyl-coenzyme A dehydrogenase deficiency, see Medium-chain acyl-CoA dehydrogenase deficiency
• Medullary cystic kidney disease type 1
• Medullary cystic kidney disease type 2, see Uromodulin-associated kidney disease
• medullary plasmacytoma, see Multiple myeloma
• Meesman's corneal dystrophy, see Meesmann corneal dystrophy
• Meesmann corneal dystrophy
• Meesmann corneal epithelial dystrophy, see Meesmann corneal dystrophy
• Meesmann epithelial corneal dystrophy, see Meesmann corneal dystrophy
• MEF, see Familial Mediterranean fever
• MEG-PMG-POLY-HYD, see Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
• mega-epiphyseal dwarfism, see Otospondylomegaepiphyseal dysplasia
• megacystis, microcolon, hypoperistalsis syndrome, see Megacystis-microcolon-intestinal hypoperistalsis syndrome
• Megacystis-microcolon-intestinal hypoperistalsis syndrome
• Megalencephalic leukoencephalopathy with subcortical cysts
• megalencephaly cutis marmorata telangiectatica congenita, see Megalencephaly-capillary malformation syndrome
• Megalencephaly-capillary malformation syndrome
• megalencephaly-capillary malformation-polymicrogyria syndrome, see Megalencephaly-capillary malformation syndrome
• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
• megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus syndrome, see Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
• megaloblastic anemia 1, see Imerslund-Gräsbeck syndrome
• MEGCANN, see CLPB deficiency
• MEGDEL syndrome
• MEGDHEL syndrome, see MEGDEL syndrome
• Meier-Gorlin syndrome
• Meige disease
• Meige lymphedema, see Meige disease
• melanodermic leukodystrophy, see X-linked adrenoleukodystrophy
• Melanoma
• MELAS, see Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• MELAS syndrome, see Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• Meleda disease, see Mal de Meleda
• Melnick-Fraser syndrome, see Branchiootorenal/branchiootic syndrome
• Melnick-Needles osteodysplasty, see Melnick-Needles syndrome
• Melnick-Needles syndrome
• melorheostoses, see Melorheostosis
• Melorheostosis
• melorheostosis of Leri, see Melorheostosis
• melorheostosis, isolated, see Melorheostosis
• membranoproliferative glomerulonephritis type II, see C3 glomerulopathy
• MEMSA, see Myoclonic epilepsy myopathy sensory ataxia
• MEN, see Multiple endocrine neoplasia
• Mendenhall syndrome, see Rabson-Mendenhall syndrome
• Meniere disease, see Ménière disease
• Meniere's disease, see Ménière disease
• Meniere's syndrome, see Ménière disease
• meningo-oculo-facial angiomatosis, see Sturge-Weber syndrome
• meningofacial angiomatosis-cerebral calcification syndrome, see Sturge-Weber syndrome
• Menkea syndrome, see Menkes syndrome
• Menkes Disease, see Menkes syndrome
• Menkes syndrome
• mental retardation with hypoplastic fifth fingernails and toenails, see Coffin-Siris syndrome
• mental retardation with hypotonia and facial dysmorphism, see KCNK9 imprinting syndrome
• Mental retardation with osteocartilaginous abnormalities, see Coffin-Lowry syndrome
• mental retardation, autosomal dominant 28, see ADNP syndrome
• mental retardation, autosomal dominant 29, see SETBP1 disorder
• mental retardation, autosomal dominant 37, see White-Sutton syndrome
• mental retardation, autosomal dominant 43, see HIVEP2-related intellectual disability
• mental retardation, autosomal dominant 5, see SYNGAP1-related intellectual disability
• mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum, see FG syndrome
• mental retardation, X-linked, associated with fragile site FRAXE, see Fragile XE syndrome
• mental retardation, X-linked, FRAXE type, see Fragile XE syndrome
• mental retardation, X-linked, syndromic, Snyder-Robinson type, see Snyder-Robinson syndrome
• mental retardation, X-linked, with hypotonia, see Allan-Herndon-Dudley syndrome
• mental retardation-clasped thumb syndrome, see L1 syndrome
• mental retardation-overgrowth syndrome, see Simpson-Golabi-Behmel syndrome
• MEPOP, see Mitochondrial neurogastrointestinal encephalopathy disease
• Meretoja syndrome, see Lattice corneal dystrophy type II
• merosin-deficient muscular dystrophy, see LAMA2-related muscular dystrophy
• 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
• Metachromatic leukodystrophy
• metachromatic leukoencephalopathy, see 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
• metaphyseal dysplasia, Pyle type, see Pyle disease
• metatropic dwarfism, see Metatropic dysplasia
• Metatropic dwarfism, type II, see Kniest dysplasia
• Metatropic dysplasia
• metatropic dysplasia type 1, see Metatropic dysplasia
• Metatropic dysplasia type II, see Kniest dysplasia
• Methemoglobinemia, beta-globin type
• methionine adenosyltransferase deficiency, see Hypermethioninemia
• methioninemia, see Hypermethioninemia
• methyl-cytosine phosphate guanine binding protein 2 related severe neonatal encephalopathy, see MECP2-related severe neonatal encephalopathy
• Methylcrotonyl-CoA carboxylase deficiency, see 3-methylcrotonyl-CoA carboxylase deficiency
• Methylmalonic acidemia
• methylmalonic acidemia and homocystinemia, see Methylmalonic acidemia with homocystinuria
• methylmalonic acidemia and homocystinuria, see Methylmalonic acidemia with homocystinuria
• Methylmalonic acidemia with homocystinuria
• methylmalonic aciduria, see Methylmalonic acidemia
• methylmalonic aciduria and homocystinuria, see Methylmalonic acidemia with homocystinuria
• Meulengracht syndrome, see Gilbert syndrome
• Mevalonate kinase deficiency
• mevalonic aciduria, see Mevalonate kinase deficiency
• mevalonicaciduria, see Mevalonate kinase deficiency
• Meyer-Schwickerath syndrome, see Fraser syndrome
• MFDGA, see Mandibulofacial dysostosis with microcephaly
• MFDM, see Mandibulofacial dysostosis with microcephaly
• MFS, see Marfan syndrome
• MFSD8-related neuronal ceroid lipofuscinosis, see CLN7 disease
• MFT, see Multiple familial trichoepithelioma
• MG, see Myasthenia gravis
• MGA type 2, see Barth syndrome
• MGA type II, see Barth syndrome
• MGA type V, see Dilated cardiomyopathy with ataxia syndrome
• MGA, type I, see 3-methylglutaconyl-CoA hydratase deficiency
• MGA, type III, see Costeff syndrome
• MGA1, see 3-methylglutaconyl-CoA hydratase deficiency
• MGA3, see Costeff syndrome
• MGA5, see Dilated cardiomyopathy with ataxia syndrome
• MGA7, see CLPB deficiency
• MGCA1, see 3-methylglutaconyl-CoA hydratase deficiency
• MGCA5, see Dilated cardiomyopathy with ataxia syndrome
• MGCA7, see CLPB deficiency
• MHAM, see Cowden syndrome
• MHBD deficiency, see HSD10 disease
• MHC class II deficiency, see Bare lymphocyte syndrome type II
• MHS - Malignant hyperthermia, see Malignant hyperthermia
• MIC-CAP syndrome, see Microcephaly-capillary malformation syndrome
• Michels syndrome, see 3MC syndrome
• Microangiopathic hemolytic anemia, see Thrombotic thrombocytopenic purpura
• Microcephalic osteodysplastic primordial dwarfism type II
• microcephaly primary hereditary, see Autosomal recessive primary 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, normal intelligence and immunodeficiency, see Nijmegen breakage syndrome
• Microcephaly, seizures, and developmental delay
• Microcephaly-capillary malformation 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
• microcytic anemia and hepatic iron overload, see Hypochromic microcytic anemia with iron overload
• microcytic anemia with liver iron overload, see Hypochromic microcytic anemia with iron overload
• microdeletion 17q21.31 syndrome, see Koolen-de Vries syndrome
• microdeletion 3q29 syndrome, see 3q29 microdeletion syndrome
• microdeletion 9q22.3 syndrome, see 9q22.3 microdeletion
• microduplication 3q29 syndrome, see 3q29 microduplication syndrome
• Microphthalmia
• microphthalmia or anophthalmos with associated anomalies, see Lenz microphthalmia syndrome
• microphthalmia syndromic 7, see Microphthalmia with linear skin defects syndrome
• microphthalmia with limb anomalies, see Ophthalmo-acromelic syndrome
• Microphthalmia with linear skin defects syndrome
• microphthalmia with linear skin lesions syndrome, see Microphthalmia with linear skin defects syndrome
• Microphthalmia, cataracts, radiculomegaly, and septal heart defects, see Oculofaciocardiodental syndrome
• microphthalmia, dermal aplasia, and sclerocornea, see Microphthalmia with linear skin defects syndrome
• microphthalmia, isolated, with coloboma, see Coloboma
• microphthalmia, syndromic 1, see Lenz microphthalmia syndrome
• Microphthalmia, syndromic 2, see Oculofaciocardiodental syndrome
• microphthalmia, syndromic 7, see Microphthalmia with linear skin defects syndrome
• microphthalmos, see Microphthalmia
• microsomal triglyceride transfer protein deficiency disease, see Abetalipoproteinemia
• microtia, absent patellae, micrognathia syndrome, see Meier-Gorlin syndrome
• microvillous atrophy, see Microvillus inclusion disease
• microvillous inclusion disease, see Microvillus inclusion disease
• microvillus atrophy with diarrhea 2, see Microvillus inclusion disease
• Microvillus inclusion disease
• MIDAS syndrome, see Microphthalmia with linear skin defects syndrome
• MIDD, see Maternally inherited diabetes and deafness
• Migraine
• migraine disorder, see Migraine
• migraine headache, see Migraine
• migraine syndrome, see Migraine
• migraines, see Migraine
• migrating partial epilepsy of infancy, see Malignant migrating partial seizures of infancy
• migrating partial seizures in infancy, see Malignant migrating partial seizures of infancy
• migrating partial seizures of infancy, see Malignant migrating partial seizures of infancy
• milk sugar intolerance, see Lactose intolerance
• Miller syndrome
• Miller-Dieker lissencephaly syndrome, see Miller-Dieker syndrome
• Miller-Dieker syndrome
• Milroy disease
• Milroy's disease, see Milroy disease
• MINDS syndrome, see Smith-Kingsmore syndrome
• Mingarelli syndrome, see 3MC syndrome
• Minicore disease, see Multiminicore disease
• Minicore myopathy, see Multiminicore disease
• MIRAS, see Ataxia neuropathy spectrum
• mirror movements, see Congenital mirror movement disorder
• 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 carbonic anhydrase va deficiency, see Carbonic anhydrase VA deficiency
• Mitochondrial complex I deficiency
• mitochondrial complex I deficiency due to ACAD9 deficiency, see ACAD9 deficiency
• Mitochondrial complex III deficiency
• mitochondrial complex IV deficiency, see Cytochrome c oxidase deficiency
• Mitochondrial complex V deficiency
• mitochondrial DNA depletion syndrome 13, encephalomyopathic type, see FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
• mitochondrial DNA depletion syndrome 2 (myopathic type), see TK2-related mitochondrial DNA depletion syndrome, myopathic form
• mitochondrial DNA depletion syndrome 6, see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), see RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
• 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 DNA depletion, encephalomyopathic form, with methylmalonic aciduria, see Succinate-CoA ligase deficiency
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• mitochondrial inherited diabetes and deafness, see Maternally inherited diabetes and deafness
• Mitochondrial membrane protein-associated neurodegeneration
• mitochondrial membrane protein-associated neurodegeneration due to C19orf12 mutation, see Mitochondrial membrane protein-associated neurodegeneration
• Mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and pseudo-obstruction, see Mitochondrial neurogastrointestinal encephalopathy disease
• mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, see Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• mitochondrial myopathy, lactic acidosis, stroke-like episode, see Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• Mitochondrial neurogastrointestinal encephalopathy disease
• Mitochondrial neurogastrointestinal encephalopathy syndrome, see Mitochondrial neurogastrointestinal encephalopathy disease
• mitochondrial protein-associated neurodegeneration, see Mitochondrial membrane protein-associated neurodegeneration
• mitochondrial recessive ataxia syndrome, see Ataxia neuropathy spectrum
• Mitochondrial trifunctional protein deficiency
• Miyoshi distal myopathy, see Miyoshi myopathy
• Miyoshi muscular dystrophy, see Miyoshi myopathy
• Miyoshi myopathy
• MJD, see Spinocerebellar ataxia type 3
• MK, see Menkes syndrome
• MKS, see Meckel syndrome
• MKS, see McKusick-Kaufman syndrome
• ML III, see Mucolipidosis III alpha/beta
• ML IIIA, 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
• MMD, see Miyoshi myopathy
• MMDS, see Multiple mitochondrial dysfunctions syndrome
• MMIH syndrome, see Megacystis-microcolon-intestinal hypoperistalsis syndrome
• MMIHS, see Megacystis-microcolon-intestinal hypoperistalsis syndrome
• MMPSI, see Malignant migrating partial seizures of infancy
• MNGIE disease, see Mitochondrial neurogastrointestinal encephalopathy disease
• MNGIE syndrome, see Mitochondrial neurogastrointestinal encephalopathy disease
• MNK, see Menkes syndrome
• MNS, see Melnick-Needles syndrome
• Mobius syndrome, see Moebius syndrome
• MOCOD, see Molybdenum cofactor deficiency
• Moebius congenital oculofacial paralysis, see Moebius syndrome
• Moebius sequence, see Moebius syndrome
• Moebius spectrum, see Moebius syndrome
• Moebius syndrome
• Mohr-Tranebjærg syndrome, see Deafness-dystonia-optic neuronopathy syndrome
• molluscum fibrosum, see Hyaline fibromatosis syndrome
• Molybdenum cofactor deficiency
• MONA, see Multicentric osteolysis, nodulosis, and arthropathy
• Monilethrix
• Monoamine oxidase A deficiency
• monocarboxylate transporter 8 (MCT8) deficiency, see Allan-Herndon-Dudley syndrome
• monosaccharide malabsorption, see Glucose-galactose malabsorption
• monosomy 17q21.31, see Koolen-de Vries syndrome
• monosomy 18q, see Distal 18q deletion syndrome
• monosomy 18q, see Proximal 18q deletion syndrome
• monosomy 1p36 syndrome, see 1p36 deletion syndrome
• monosomy 22q13, see 22q13.3 deletion syndrome
• monosomy 2q37, see 2q37 deletion syndrome
• monosomy 3p, see 3p deletion syndrome
• monosomy 3q29, see 3q29 microdeletion syndrome
• monosomy 4p, see Wolf-Hirschhorn syndrome
• monosomy 5p, see Cri-du-chat 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 Disease, see Mucopolysaccharidosis type IV
• Morquio Syndrome, see Mucopolysaccharidosis type IV
• Morquio's Disease, see Mucopolysaccharidosis type IV
• Morquio's Syndrome, see Mucopolysaccharidosis type IV
• Morquio-Brailsford disease, see Mucopolysaccharidosis type IV
• Morvan disease, see Hereditary sensory and autonomic neuropathy type II
• mosaic variegated aneuplody microcephaly syndrome, see Mosaic variegated aneuploidy syndrome
• Mosaic variegated aneuploidy syndrome
• Moschkowitz Disease, see Thrombotic thrombocytopenic purpura
• MOTA, see Manitoba oculotrichoanal syndrome
• moth-eaten skeletal dysplasia, see Greenberg dysplasia
• Motion sickness
• motor neuron disease, amyotrophic lateral sclerosis, see Amyotrophic lateral sclerosis
• Mount-Reback syndrome, see Familial paroxysmal nonkinesigenic dyskinesia
• Mowat-Wilson syndrome
• moya-moya disease, see Moyamoya disease
• Moyamoya disease
• Moynahan syndrome, see Noonan syndrome with multiple lentigines
• MPAN, see Mitochondrial membrane protein-associated neurodegeneration
• MPD1, see Laing distal myopathy
• MPD2, see Distal myopathy 2
• MPDT, see CAV3-related distal myopathy
• MPPH, see Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
• MPPH syndrome, see Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
• MPS I, see Mucopolysaccharidosis type I
• MPS I H, see Mucopolysaccharidosis type I
• MPS I H-S, see Mucopolysaccharidosis type I
• MPS I S, 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
• MRD28, see ADNP syndrome
• MRD29, see SETBP1 disorder
• MRD37, see White-Sutton syndrome
• MRD43, see HIVEP2-related intellectual disability
• MRD5, see SYNGAP1-related intellectual disability
• MRFACD, see MED13L syndrome
• MRKH syndrome, see Mayer-Rokitansky-Küster-Hauser syndrome
• MRX36, see Partington syndrome
• MRXS13, see PPM-X syndrome
• MRXSSD, see X-linked intellectual disability, Siderius type
• MS, see Multiple sclerosis
• MSA, see Multiple system atrophy
• MSD, see Multiple sulfatase deficiency
• MSS, see Marinesco-Sjögren syndrome
• MSUD, see Maple syrup urine disease
• MTDPS13, see FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
• MTDPS2, see TK2-related mitochondrial DNA depletion syndrome, myopathic form
• MTDPS6, see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• MTDPS8A, see RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
• MTMX, see X-linked myotubular myopathy
• MTP deficiency, see Abetalipoproteinemia
• 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, see Mucolipidosis II alpha/beta
• Mucolipidosis II alpha/beta
• mucolipidosis III, see Mucolipidosis III alpha/beta
• mucolipidosis III, see Mucolipidosis III gamma
• Mucolipidosis III alpha/beta
• Mucolipidosis III gamma
• mucolipidosis III, variant, see Mucolipidosis III alpha/beta
• mucolipidosis III, variant, see Mucolipidosis III gamma
• mucolipidosis IIIA, see Mucolipidosis III alpha/beta
• mucolipidosis IIIC, see Mucolipidosis III gamma
• mucolipidosis type I, see Sialidosis
• mucolipidosis type II, see Mucolipidosis II alpha/beta
• mucolipidosis type III, see Mucolipidosis III gamma
• Mucolipidosis type IV
• mucopolysaccharidosis (MPS) IV (A, B), see Mucopolysaccharidosis type IV
• Mucopolysaccharidosis 6, see Mucopolysaccharidosis type VI
• Mucopolysaccharidosis 7, see Mucopolysaccharidosis type VII
• mucopolysaccharidosis I, see Mucopolysaccharidosis type I
• mucopolysaccharidosis III, see Mucopolysaccharidosis type III
• Mucopolysaccharidosis type I
• Mucopolysaccharidosis type II
• Mucopolysaccharidosis type III
• Mucopolysaccharidosis type IV
• Mucopolysaccharidosis type VI
• Mucopolysaccharidosis type VII
• Mucopolysaccharidosis VI, see Mucopolysaccharidosis type VI
• Mucopolysaccharidosis VII, see Mucopolysaccharidosis type VII
• mucosulfatidosis, see Multiple sulfatase deficiency
• mucoviscidosis, see Cystic fibrosis
• Muenke nonsyndromic coronal craniosynostosis, see Muenke syndrome
• Muenke syndrome
• Mullerian agenesis, see Mayer-Rokitansky-Küster-Hauser syndrome
• Mullerian aplasia, see Mayer-Rokitansky-Küster-Hauser syndrome
• Mullerian aplasia and hyperandrogenism, see Müllerian aplasia and hyperandrogenism
• Mullerian dysgenesis, see Mayer-Rokitansky-Küster-Hauser syndrome
• Multi-minicore disease, see Multiminicore disease
• Multicentric osteolysis, nodulosis, and arthropathy
• Multicore disease, see Multiminicore disease
• Multicore myopathy, see Multiminicore disease
• multicystic ovaries, see Polycystic ovary syndrome
• Multiminicore disease
• Multiminicore myopathy, see Multiminicore disease
• multiple acyl-CoA dehydrogenase deficiency, see Glutaric acidemia type II
• multiple angiomas and endochondromas, see Maffucci syndrome
• multiple carboxylase deficiency, late-onset, see Biotinidase deficiency
• Multiple Carboxylase Deficiency, Neonatal Form, see Holocarboxylase synthetase deficiency
• multiple cartilaginous enchondroses, see Ollier disease
• multiple cartilaginous exostoses, see Hereditary multiple osteochondromas
• multiple congenital exostosis, see Hereditary multiple osteochondromas
• 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 enchondromatosis, see Ollier disease
• multiple endocrine adenomatosis, see Multiple endocrine neoplasia
• Multiple endocrine neoplasia
• multiple endocrine neoplasms, see Multiple endocrine neoplasia
• Multiple epiphyseal dysplasia
• multiple epiphyseal dysplasia, autosomal dominant, see Multiple epiphyseal dysplasia
• multiple epiphyseal dysplasia, autosomal recessive, see 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 osteochondromas
• multiple lentigines syndrome, see Noonan syndrome with multiple lentigines
• multiple mitochondrial dysfunction syndrome, see Multiple mitochondrial dysfunctions syndrome
• Multiple mitochondrial dysfunctions syndrome
• Multiple myeloma
• multiple neurilemmomas, see Schwannomatosis
• multiple osteochondromas, see Hereditary multiple osteochondromas
• multiple osteochondromatosis, see Hereditary multiple osteochondromas
• Multiple pterygium syndrome
• multiple schwannomas, see Schwannomatosis
• Multiple sclerosis
• multiple sebaceous cysts, see Steatocystoma multiplex
• Multiple sulfatase deficiency
• Multiple system atrophy
• multiplex steatocystoma, see Steatocystoma multiplex
• Murray syndrome, see Hyaline fibromatosis syndrome
• muscle AMP deaminase deficiency, see Adenosine monophosphate deaminase deficiency
• muscle glycogen phosphorylase deficiency, see Glycogen storage disease type V
• Muscle hypertrophy syndrome, see Myostatin-related muscle hypertrophy
• muscle phosphofructokinase deficiency, see Glycogen storage disease type VII
• muscle phosphorylase deficiency, see Glycogen storage disease type V
• muscular dystrophy due to LAMA2 deficiency, see LAMA2-related muscular dystrophy
• Muscular dystrophy, congenital progressive, with mental retardation, see Fukuyama congenital muscular dystrophy
• Muscular dystrophy, congenital, Fukuyama type, see Fukuyama congenital muscular dystrophy
• muscular dystrophy, congenital, LMNA-related, see LMNA-related congenital muscular dystrophy
• muscular dystrophy, congenital, merosin-positive, with early spine rigidity, see Rigid spine 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 type, see Emery-Dreifuss muscular dystrophy
• muscular dystrophy, facioscapulohumeral, 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
• muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, see Walker-Warburg syndrome
• [[muscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type A]], see Walker-Warburg syndrome
• musculoaponeurotic fibromatosis, see Desmoid tumor
• mutilating keratoderma, see Vohwinkel syndrome
• MVA syndrome, see Mosaic variegated aneuploidy syndrome
• MVID, see Microvillus inclusion disease
• MWS, see Muckle-Wells syndrome
• MWS, see Mowat-Wilson syndrome
• Myasthenia gravis
• mycoplasma-induced Stevens Johnson syndrome, see Stevens-Johnson syndrome/toxic epidermal necrolysis
• Mycosis fungoides
• MyD88 deficiency
• MYD88 deficiency, see MyD88 deficiency
• myelinosis centralis diffusa, see Leukoencephalopathy with vanishing white matter
• myelocerebellar disorder, see Ataxia-pancytopenia syndrome
• myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality, see 5q minus syndrome
• myelodysplastic syndrome with 5q deletion, see 5q minus syndrome
• myelodysplastic syndrome with 5q deletion syndrome, see 5q minus syndrome
• myelofibrosis with myeloid metaplasia, see Primary myelofibrosis
• myeloid and lymphoid neoplasms with FGFR1 abnormalities, see 8p11 myeloproliferative syndrome
• myeloid leukemia, acute, M3, see Acute promyelocytic leukemia
• myeloid metaplasia, see Primary myelofibrosis
• myelomatosis, see Multiple myeloma
• MYH-associated polyposis, see Familial adenomatous polyposis
• MYH9-related disorder
• MYH9-related macrothrombocytopenias, see MYH9-related disorder
• MYH9RD, see MYH9-related disorder
• Myhre syndrome
• Myhre-Riley-Smith syndrome, see Bannayan-Riley-Ruvalcaba syndrome
• myoadenylate deaminase deficiency, see Adenosine monophosphate deaminase deficiency
• myoclonic epilepsy associated with ragged-red fibers, see Myoclonic epilepsy with ragged-red fibers
• 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
• myoclonus-dystonia syndrome, see Myoclonus-dystonia
• myoclonus-nephropathy syndrome, see Action myoclonus–renal failure syndrome
• myoencephalopathy ragged-red fiber disease, see Myoclonic epilepsy with ragged-red fibers
• myofascial pain syndrome, see Fibromyalgia
• myofibrillar myopathies, see Myofibrillar myopathy
• Myofibrillar myopathy
• myoglobinuria due to abnormal glycolysis, see Myopathy with deficiency of iron-sulfur cluster assembly enzyme
• myokymia, myotonia, and muscle wasting, see Autosomal recessive axonal neuropathy with neuromyotonia
• 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
• myopathy due to phosphoglycerate mutase deficiency, see Phosphoglycerate mutase deficiency
• Myopathy with deficiency of iron-sulfur cluster assembly enzyme
• myopathy with deficiency of ISCU, see Myopathy with deficiency of iron-sulfur cluster assembly enzyme
• myopathy with deficiency of succinate dehydrogenase and aconitase, see Myopathy with deficiency of iron-sulfur cluster assembly enzyme
• myopathy with exercise intolerance, Swedish type, see Myopathy with deficiency of iron-sulfur cluster assembly enzyme
• myopathy with tubular aggregates, see Tubular aggregate myopathy
• Myopathy, Central Core, see Central core disease
• myopathy, centronuclear, see Centronuclear myopathy
• 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
• myophosphorylase deficiency, see Glycogen storage disease type V
• myopia, see Nearsightedness
• myopia and deafness, see Deafness and myopia syndrome
• myopic, see Nearsightedness
• Myosin storage myopathy
• Myositis Ossificans, see Fibrodysplasia ossificans progressiva
• Myositis ossificans progressiva, see Fibrodysplasia ossificans progressiva
• myositis ossificans progressiva, see Progressive osseous heteroplasia
• Myostatin-related muscle hypertrophy
• myotonia atrophica, see Myotonic dystrophy
• Myotonia congenita
• myotonia dystrophica, see Myotonic dystrophy
• Myotonic dystrophy
• myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities, see Schwartz-Jampel syndrome
• MZSDS, see Mainzer-Saldino syndrome