Genetic Conditions: M

Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.

• M-CM, see Megalencephaly-capillary malformation syndrome
• M/SCHAD deficiency, see 3-hydroxyacyl-CoA dehydrogenase deficiency
• M3 ANLL, see Acute promyelocytic leukemia
• 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 hair loss, see Androgenetic alopecia
• Male Turner syndrome, see Noonan syndrome
• Male-pattern baldness, see Androgenetic alopecia
• Malherbe calcifying epithelioma, see Pilomatricoma
• Malignant aphthosis, see Behçet disease
• Malignant bladder neoplasm, see Bladder cancer
• Malignant bladder tumor, see Bladder cancer
• 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
• 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
• Martsolf syndrome, see RAB18 deficiency
• 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
• Maturity-onset diabetes of the young
• 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
• MCCD, see 3-methylcrotonyl-CoA carboxylase deficiency
• McCune-Albright syndrome
• MCD deficiency, see Malonyl-CoA decarboxylase deficiency
• MCHS, see Childhood myocerebrohepatopathy spectrum
• MCKD2, see Autosomal dominant tubulointerstitial kidney disease-UMOD
• 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
• 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
• MCTT syndrome, see MN1 C-terminal truncation 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
• MDDGA4, see Fukuyama congenital muscular dystrophy
• MDLS, see Miller-Dieker 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
• 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 Autosomal dominant tubulointerstitial kidney disease-UMOD
• 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
• 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 haploinsufficiency 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, 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
• Methylacetoacetyl-coenzyme A thiolase deficiency, see Beta-ketothiolase deficiency
• Methylcrotonyl-CoA carboxylase deficiency, see 3-methylcrotonyl-CoA carboxylase deficiency
• Methylcrotonyl-coenzyme A 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, see Malignant hyperthermia
• MIC-CAP syndrome, see Microcephaly-capillary malformation syndrome
• Michels syndrome, see 3MC syndrome
• Microcephalic osteodysplastic dysplasia, see Saul-Wilson syndrome
• Microcephalic osteodysplastic dysplasia Saul Wilson type, see Saul-Wilson syndrome
• 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
• 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 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 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
• Mismatch repair cancer syndrome, see Constitutional mismatch repair deficiency syndrome
• Mismatch repair deficiency, see Constitutional mismatch repair deficiency syndrome
• 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 3 (hepatocerebral type), see Deoxyguanosine kinase deficiency
• Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), see SUCLA2-related mitochondrial DNA depletion syndrome
• 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 9 (encephalomyopathic type with methylmalonic aciduria), see SUCLG1-related mitochondrial DNA depletion syndrome
• Mitochondrial DNA depletion syndrome, encephalomyopathic form with or without methylmalonic aciduria, autosomal recessive, SUCLA2-related, see SUCLA2-related mitochondrial DNA depletion syndrome
• Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency, see Deoxyguanosine kinase 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
• MJDS, see Majeed syndrome
• 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 Miyoshi myopathy
• MmD, see Multiminicore disease
• 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
• MN1 C-terminal truncation syndrome
• 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
• MODY, see Maturity-onset diabetes of the young
• 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 10qter, see 10q26 deletion syndrome
• Monosomy 17p13.3, see Miller-Dieker syndrome
• 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 haploinsufficiency 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
• MTDPS3, see Deoxyguanosine kinase deficiency
• MTDPS5, see SUCLA2-related mitochondrial DNA depletion syndrome
• MTDPS6, see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• MTDPS8A, see RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
• MTDPS9, see SUCLG1-related mitochondrial DNA depletion syndrome
• MTMX, see X-linked myotubular myopathy
• MTP deficiency, see Mitochondrial trifunctional protein deficiency
• MTP deficiency, see Abetalipoproteinemia
• 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-core congenital myopathy, see Multiminicore disease
• Multi-core disease, see Multiminicore disease
• 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 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
• Multisystem proteinopathy, see Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• 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, LMNA-related, see LMNA-related congenital muscular dystrophy
• Muscular dystrophy, congenital, merosin-positive, with early spine rigidity, see Rigid spine 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 (congenital with brain and eye anomalies), type A, 4, see Fukuyama congenital muscular dystrophy
• 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 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 associated with PDGFRA rearrangement, see PDGFRA-associated chronic eosinophilic leukemia
• Myeloid and lymphoid neoplasms with FGFR1 abnormalities, see 8p11 myeloproliferative syndrome
• Myeloid and lymphoid neoplasms with PDGFRA rearrangement, see PDGFRA-associated chronic eosinophilic leukemia
• Myeloid leukemia, acute, M3, see Acute promyelocytic leukemia
• Myeloid metaplasia, see Primary myelofibrosis
• Myeloid neoplasms associated with PDGFRB rearrangement, see PDGFRB-associated chronic eosinophilic leukemia
• Myeloid neoplasms with PDGFRB rearrangement, see PDGFRB-associated chronic eosinophilic leukemia
• Myeloid/lymphoid neoplasms with PDGFRA rearrangement, see PDGFRA-associated chronic eosinophilic leukemia
• Myeloid/lymphoid neoplasms with PDGFRB rearrangement, see PDGFRB-associated chronic eosinophilic leukemia
• 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 Progressive myoclonic epilepsy type 1
• 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, congenital, Bailey-Bloch, see STAC3 disorder
• Myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia, see STAC3 disorder
• 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 Progressive osseous heteroplasia
• Myositis ossificans progressiva, see Fibrodysplasia ossificans progressiva
• 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
• Ménière disease
• Ménière's disease, see Ménière disease
• Ménière's vertigo, see Ménière disease
• Möbius sequence, see Moebius syndrome
• Müllerian aplasia and hyperandrogenism
• Müllerian duct failure, see Müllerian aplasia and hyperandrogenism