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Disease	Synonyms	Description	Articles
multinodular and vacuolating neuronal tumor		A central nervous system benign neoplasm that is c..[+] A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres. [-]
multiple synostoses syndrome 1		A multiple synostoses syndrome is characterized by..[+] A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. [-]
multiple synostoses syndrome 2		A multiple synostoses syndrome that is characteriz..[+] A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. [-]
multiple synostoses syndrome 3		A multiple synostoses syndrome that is characteriz..[+] A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12. [-]
multiple synostoses syndrome 4		A multiple synostoses syndrome that is characteriz..[+] A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. [-]
myofibrillar myopathy 11		A myofibrillar myopathy that is characterized by o..[+] A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11. [-]
microcephaly, short stature, and limb abnormalities	DONSON-related microcephaly-short stature-limb abn.. [+] DONSON-related microcephaly-short stature-limb abnormalities spectrum [-]	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. [-]
microcephaly-micromelia syndrome		A syndrome that is characterized by intrauterine g..[+] A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder. [-]
myoclonic dystonia		A dystonia that is characterized by myoclonic jerk..[+] A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life. [-]
myoclonic dystonia 11		A myoclonic dystonia that is characterized by myoc..[+] A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. [-]
myoclonic dystonia 15		A myoclonic dystonia that is characterized by jerk..[+] A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11. [-]
myoclonic dystonia 26		A myoclonic dystonia characterized by onset of myo..[+] A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12. [-]
megaconial type congenital muscular dystrophy	megaconial congenital muscular dystrophy; congenit.. [+] megaconial congenital muscular dystrophy; congenital megaconial myopathy; congenital muscular dystrophy with mitochondrial structural abnormalities; congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect [-]	A congenital muscular dystrophy characterized by a..[+] A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13. [-]
muscular dystrophy-dystroglycanopathy type B5	muscular dystrophy-dystroglycanopathy (congenital .. [+] muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5; MDC1C; muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; MDDGB5; FKRP-related congenital muscular dystrophy; congenital muscular dystrophy 1C [-]	A congenital muscular dystrophy characterized by a..[+] A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. [-]
muscular dystrophy-dystroglycanopathy type B6	muscular dystrophy-dystroglycanopathy (congenital .. [+] muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6; MDC1D; muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6; MDDGB6; congenital muscular dystrophy type 1D; congenital muscular dystrophy LARGE-related [-]	A congenital muscular dystrophy characterized by a..[+] A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. [-]
Mononen-Karnes-Senac syndrome	Mononen type brachydactyly; short and abducted thu.. [+] Mononen type brachydactyly; short and abducted thumbs and great toes [-]	A brachydactyly characterized by short, abducted t..[+] A brachydactyly characterized by short, abducted thumbs and great toes. [-]
myostatin-related muscle hypertrophy	MSLHP	A muscle tissue disease characterized by increased..[+] A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2. [-]
maturity-onset diabetes of the young type 1	MODY1; MODY type 1; mild juvenile diabetes mellitu.. [+] MODY type 1; MODY1; mild juvenile diabetes mellitus; Diabetes Mellitus Type 2 [-]	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20. [-]
maturity-onset diabetes of the young type 2	MODY2; MODY type 2; MODY glucokinase-related	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13. [-]
maturity-onset diabetes of the young type 5	MODY5; atypical familial juvenile hyperuricemic ne.. [+] MODY5; atypical familial juvenile hyperuricemic nephropathy; CAKUT with diabetes; congenital anomalies of the kidney and urinary tract with diabetes; familial hypoplastic glomerulocystic kidney; hypoplastic type glomerulocystic kidney disease; renal cysts and diabetes syndrome; atypical FJHN; RCAD [-]	A maturity-onset diabetes of the young characteriz..[+] A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. [-]	2 articles
maturity-onset diabetes of the young type 3	MODY3; MODY type 3	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31. [-]
maturity-onset diabetes of the young type 4	MODY4; MODY type 4	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2. [-]
maturity-onset diabetes of the young type 6	MODY6; MODY type 6	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31. [-]
maturity-onset diabetes of the young type 8	MODY type 8; MODY8; maturity-onset diabetes of the.. [+] MODY8; MODY type 8; maturity-onset diabetes of the young type 8 with exocrine dysfunction; diabetes and pancreatic exocrine [-]	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13. [-]
maturity-onset diabetes of the young type 7	MODY7	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25. [-]
maturity-onset diabetes of the young type 9	MODY9	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1. [-]
maturity-onset diabetes of the young type 10	MODY10	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5. [-]
maturity-onset diabetes of the young type 11	MODY11	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22. [-]
maturity-onset diabetes of the young type 13	MODY13; MODY type 13	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. [-]
maturity-onset diabetes of the young type 14	MODY14	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14. [-]
mitochondrial complex III deficiency		A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III. [-]
mitochondrial complex V (ATP synthase) deficiency		A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex. [-]
multicentric Castleman disease	multicentric giant lymph node hyperplasia; MCD; pl.. [+] MCD; multicentric giant lymph node hyperplasia; plasmablastic multicentric Castleman disease; PMCD [-]	A Castleman disease characterized by systemic infl..[+] A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. [-]
molybdenum cofactor deficiency type B	molybdenum cofactor deficiency complementation gro.. [+] molybdenum cofactor deficiency complementation group B; MOCODB; MOCOD type B; combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B [-]	A molybdenum cofactor deficiency that has_material..[+] A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. [-]
molybdenum cofactor deficiency type A	molybdenum cofactor deficiency complementation gro.. [+] molybdenum cofactor deficiency complementation group A; MOCODA; MOCOD type A; combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A [-]	A molybdenum cofactor deficiency that has_material..[+] A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. [-]
molybdenum cofactor deficiency	MOCOD; combined deficiency of sulfite oxidase, xan.. [+] MOCOD; combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase [-]	A metal metabolism disease characterized by enceph..[+] A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. [-]
molybdenum cofactor deficiency type C	MOCOD type C; molybdenum cofactor deficiency compl.. [+] MOCOD type C; molybdenum cofactor deficiency complementation group C; MOCODC; combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C [-]	A molybdenum cofactor deficiency that has_material..[+] A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23. [-]
myopathy, lactic acidosis, and sideroblastic anemia 3	MLASA3	A myopathy, lactic acidosis, and sideroblastic ane..[+] A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome. [-]
myopathy, lactic acidosis, and sideroblastic anemia 1	MLASA1	A myopathy, lactic acidosis, and sideroblastic ane..[+] A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24. [-]
myopathy, lactic acidosis, and sideroblastic anemia 2	MLASA2	A myopathy, lactic acidosis, and sideroblastic ane..[+] A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21. [-]
myofibrillar myopathy 9	Myofibrillar myopathy-titinopathy; myofibrillar my.. [+] Myofibrillar myopathy-titinopathy; myofibrillar myopathy 9 with early respiratory failure; MPRM; MFM9; MFM-titinopathy; autosomal dominant distal myopathy with early respiratory failure; Edstrom myopathy; Hereditary inclusion body myopathy with early respiratory failure; hereditary myopathy with early respiratory failure; HIBM-ERF; HMERF; proximal myopathy with early respiratory muscle involvement [-]	A myofibrillar myopathy characterized by adult ons..[+] A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. [-]
McKusick-Kaufman syndrome	MKKS; HMCS; hydrometrocolpos, postaxial polydactyl.. [+] MKKS; HMCS; hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; hydrometrocolpos-postaxial polydactyly syndrome; hydrometrocolpos syndrome; Kaufman McKusick syndrome [-]	A syndrome characterized by neonatal onset of geni..[+] A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. [-]
mitochondrial trifunctional protein deficiency	MTPD; TFP deficiency; TFPD	A lipid metabolism disorder characterized by abnor..[+] A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3. [-]
myopathy with extrapyramidal signs	MPXPS; proximal myopathy with extrapyramidal signs.. [+] MPXPS; proximal myopathy with extrapyramidal signs [-]	A myopathy characterized by early childhood onset ..[+] A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1. [-]
myeloproliferative disorder with eosinophilia	chronic myeloproliferative disorder with eosinophi.. [+] chronic myeloproliferative disorder with eosinophilia [-]	A myeloproliferative neoplasm characterized by chr..[+] A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32. [-]
multiple epiphyseal dysplasia with myopia and deafness	multiple epiphyseal dysplasia-myopia-deafness synd.. [+] multiple epiphyseal dysplasia-myopia-deafness syndrome; multiple epiphyseal dysplasia, Beighton type; EDMMD [-]	A syndrome characterized by typically mild epiphys..[+] A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. [-]
mucopolysaccharidosis Ih/s	MPS1H/S; MPSIH/S; Mucopolysaccharidosis type 1H/S; .. [+] Mucopolysaccharidosis type 1H/S; MPSIH/S; MPS1H/S [-]	A mucopolysaccharidosis I characterized by an inte..[+] A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. [-]
mucopolysaccharidosis Ih	MPS1-H; Mucopolysaccharidosis type I severe form; .. [+] Mucopolysaccharidosis type I severe form; MPS1-H; gargoylism; Hurler disease MPS type 1H; Hurler-Pfaundler syndrome; L-iduronidase deficiency, Hurler type; dysostosis multiplex; Dysostosis multiplex syndrome [-]	A mucopolysaccharidosis I characterized by a sever..[+] A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. [-]
mucopolysaccharidosis IVA	Morquio syndrome A; MPS IVA; MPS4A; Morquio A dise.. [+] MPS4A; MPS IVA; Morquio syndrome A; Morquio A disease; GALNS deficiency [-]	A mucopolysaccharidosis IV characterized by intrac..[+] A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. [-]
mucopolysaccharidosis type IVB	MPS4B; mucopolysaccharidosis type IVB (Morquio); M.. [+] mucopolysaccharidosis type IVB (Morquio); MPS4B; MPS IVB; Morquio syndrome B; Morquio disease type B; beta-D-galactosidase deficiency [-]	A mucopolysaccharidosis IV characterized by skelet..[+] A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3. [-]

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