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
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