Health Conditions - Genetics Home Reference | M [M-CM, see megalencephaly-capillary malformation syndrome]

Health Conditions - Genetics Home Reference

Health Conditions

Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.

• 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-capillary malformation syndrome, see megalencephaly-capillary malformation 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
• 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 Hyperpyrexia, see malignant hyperthermia
• malignant hyperthermia
• malignant lung tumor, see lung cancer
• 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 the ovary, see ovarian cancer
• malignant neoplasm of the prostate, see prostate cancer
• malignant tumor of breast, see breast cancer
• malignant tumor of lung, see lung 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
• 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
• MAT deficiency, see hypermethioninemia
• MAT deficiency, see beta-ketothiolase deficiency
• maternally inherited diabetes and deafness
• maternally transmitted diabetes-deafness syndrome, see maternally inherited diabetes and deafness
• matrin 3 distal myopathy, see distal myopathy 2
• 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
• 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
• MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency, see Allan-Herndon-Dudley syndrome
• MCUL, see hereditary leiomyomatosis and renal cell cancer
• MDC1A, see LAMA2-related muscular dystrophy
• 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
• medial coronary sclerosis of infancy, see generalized arterial calcification of infancy
• median facial cleft syndrome, see frontonasal dysplasia
• 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
• 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
• 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
• 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 osteocartilaginous abnormalities, see Coffin-Lowry syndrome
• mental retardation, autosomal dominant 28, see ADNP 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 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 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-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 9q22.3 syndrome, see 9q22.3 microdeletion
• 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
• 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
• 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 due to ACAD9 deficiency, see ACAD9 deficiency
• mitochondrial complex III deficiency
• mitochondrial complex IV deficiency, see cytochrome c oxidase 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 Miyoshi myopathy
• MmD, see multiminicore disease
• MMDS, see multiple mitochondrial dysfunctions 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 juvenile hyaline fibromatosis
• 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 proximal 18q deletion syndrome
• monosomy 18q, see distal 18q deletion syndrome
• monosomy 1p36 syndrome, see 1p36 deletion syndrome
• monosomy 22q13, see 22q13.3 deletion syndrome
• monosomy 3p, see 3p deletion 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
• Moschkowitz Disease, see thrombotic thrombocytopenic purpura
• MOTA, see Manitoba oculotrichoanal syndrome
• moth-eaten skeletal dysplasia, see Greenberg dysplasia
• motor neuron disease, amyotrophic lateral sclerosis, see amyotrophic lateral sclerosis
• Mount-Reback syndrome, see familial paroxysmal nonkinesigenic dyskinesia
• 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
• MPRM, see hereditary myopathy with early respiratory failure
• 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
• MRD43, see HIVEP2-related intellectual disability
• MRD5, see SYNGAP1-related intellectual disability
• MRKH syndrome, see Mayer-Rokitansky-Küster-Hauser syndrome
• MRX36, see Partington 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 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 gamma
• mucolipidosis III, see mucolipidosis III alpha/beta
• mucolipidosis III alpha/beta
• mucolipidosis III gamma
• mucolipidosis III, variant, see mucolipidosis III gamma
• mucolipidosis III, variant, see mucolipidosis III alpha/beta
• 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
• 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 juvenile hyaline fibromatosis
• 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, with central nervous system involvement, see Fukuyama congenital muscular dystrophy
• muscular dystrophy, Duchenne and Becker types, see Duchenne and Becker muscular dystrophy
• Muscular Dystrophy, Emery-Dreifuss, see Emery-Dreifuss muscular dystrophy
• muscular dystrophy, facioscapulohumeral, see facioscapulohumeral muscular dystrophy
• Muscular dystrophy, 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
• MVID, see microvillus inclusion disease
• MWS, see Mowat-Wilson syndrome
• MWS, see Muckle-Wells syndrome
• myasthenia gravis
• mycoplasma-induced Stevens Johnson syndrome, see Stevens-Johnson syndrome/toxic epidermal necrolysis
• mycosis fungoides
• MYD88 deficiency, see MyD88 deficiency
• MyD88 deficiency
• myelinosis centralis diffusa, see leukoencephalopathy with vanishing white matter
• 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 dystonia, see myoclonus-dystonia
• 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
• 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 and deafness, see deafness and myopia syndrome
• 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