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Disease	Synonyms	Description
myoclonic dystonia 11		A myoclonic dystonia characterized by autosomal do..[+] A myoclonic dystonia characterized by autosomal dominant inheritance and association with psychiatric disorder that has_material_basis_in heterozygous mutation in the SGCE gene 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 autosomal do..[+] A myoclonic dystonia characterized by autosomal dominant inheritance of myoclonic jerks affecting the upper limbs with onset in the first or second decade of life and progressive development that has_material_basis_in 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 due to phosphatidylcholine biosynthesis defect; congenital muscular dystrophy with mitochondrial structural abnormalities [-]	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; muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; MDDGB5; MDC1C; congenital muscular dystrophy 1C; FKRP-related congenital muscular dystrophy [-]	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; muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6; MDDGB6; MDC1D; congenital muscular dystrophy LARGE-related; congenital muscular dystrophy type 1D [-]	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	MODY type 1; MODY1; mild juvenile diabetes mellitu.. [+] MODY1; MODY type 1; mild juvenile diabetes mellitus [-]	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; atypical FJHN; CAKUT with diabetes; congenital anomalies of the kidney and urinary tract with diabetes; familial hypoplastic glomerulocystic kidney; hypoplastic type glomerulocystic kidney disease; RCAD; renal cysts and diabetes syndrome [-]	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. [-]
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	MCD; multicentric giant lymph node hyperplasia; pl.. [+] multicentric giant lymph node hyperplasia; MCD; 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	molybdenum cofactor deficiency complementation gro.. [+] molybdenum cofactor deficiency complementation group C; MOCODC; MOCOD type C; 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 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. [-]
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. [-]
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 IIIC	mucopolysaccharidosis type IIIC (Sanfilippo C); Mu.. [+] mucopolysaccharidosis type IIIC (Sanfilippo C); Mucopolysaccharidosis type 3C; MPSIIIC; MPS3C; Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency; Heparan-alpha-glucosaminide N-acetyltransferase deficiency; HGSNAT deficiency; Sanfilippo syndrome type C [-]	A mucopolysaccharidosis III that has_material_basi..[+] A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. [-]
mucopolysaccharidosis type IIID	MPS IIID; MPS3D; Mucopolysaccharidosis type 3D; GN.. [+] Mucopolysaccharidosis type 3D; MPS3D; MPS IIID; GNS deficiency; N-acetylglucosamine-6-sulfatase deficiency; Sanfilippo syndrome D; Sanfilippo syndrome type D [-]	A mucopolysaccharidosis III that has_material_basi..[+] A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. [-]
Marshall syndrome	MRSHS; deafness, myopia, cataract, saddle nose-Mar.. [+] MRSHS; deafness, myopia, cataract, saddle nose-Marshall type [-]	An ectodermal dysplasia characterized by hypoplasi..[+] An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome. [-]
metatropic dysplasia	metatropic dwarfism	A spondyloepimetaphyseal dysplasia characterized b..[+] A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. [-]
multicentric carpotarsal osteolysis syndrome	multicentric osteolysis nephropathy; multicentric .. [+] multicentric osteolysis nephropathy; multicentric carpo-tarsal osteolysis with or without nephropathy; MCTO; autosomal dominant multicentric osteolysis; hereditary osteolysis of carpal bones with or without nephropathy; idiopathic multicentric osteolysis with or without nephropathy [-]	A syndrome characterized by progressive loss of bo..[+] A syndrome characterized by progressive loss of bone, typically involving the capsal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. [-]
Mulchandani-Bhoj-Conlin syndrome	maternal UPD(20); MBCS; maternal uniparental disom.. [+] MBCS; maternal UPD(20); maternal uniparental disomy of chromosome 20; UPD(20)mat [-]	A syndrome characterized by prenatal growth restri..[+] A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13. [-]
mitochondrial nonsyndromic sensorineural deafness		MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI.; A se..[+] A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI. [-]
Mullegama-Klein-Martinez syndrome	MKMS; NEDXCF; X-linked neurodevelopmental disorder.. [+] MKMS; NEDXCF; X-linked neurodevelopmental disorder with craniofacial abnormalities [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. [-]
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	MFHIEN	A syndrome characterized by midface hypoplasia, he..[+] A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23. [-]
mitochondrial type mitochondrial complex I deficiency	MC1DM	A mitochondrial complex I deficiency that has_mate..[+] A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome. [-]
Mayer-Rokitansky-Kuster-Hauser syndrome	MRKH syndrome; Rokitansky syndrome	A syndrome characterized by aplasia of the uterus ..[+] A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype. [-]
muscular dystrophy-dystroglycanopathy type B15	MDDGB15; congenital muscular dystrophy DPM3-relate.. [+] MDDGB15; congenital muscular dystrophy DPM3-related [-]	A muscular dystrophy-dystroglycanopathy type B tha..[+] A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22. [-]
muscular dystrophy-dystroglycanopathy type B4	MDDGB4; congenital muscular dystrophy FKTN-related.. [+] MDDGB4; congenital muscular dystrophy FKTN-related [-]	A muscular dystrophy-dystroglycanopathy type B cha..[+] A muscular dystrophy-dystroglycanopathy type B characteried by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. [-]
muscular dystrophy-dystroglycanopathy type B2	MDDGB2; congenital muscular dystrophy POMT2-relate.. [+] MDDGB2; congenital muscular dystrophy POMT2-related [-]	A muscular dystrophy-dystroglycanopathy type B tha..[+] A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. [-]
pericardium cancer	malignant tumor of Pericardium; malignant neoplasm.. [+] malignant tumor of Pericardium; malignant neoplasm of pericardium; Pericardial tumor [-]	n_a
heart cancer	malignant neoplasm of heart; malignant Cardiac tum.. [+] malignant neoplasm of heart; malignant Cardiac tumor; Cardiac tumor; Tumour of heart [-]	A cardiovascular cancer located_in the heart.
vaginal cancer	malignant vaginal tumor; malignant tumor of vagina.. [+] malignant vaginal tumor; malignant tumor of vagina (disorder); malignant neoplasm of vagina; neoplasm of vagina (disorder); vagina neoplasm; vaginal tumor [-]	A female reproductive system cancer that is locate..[+] A female reproductive system cancer that is located_in the vagina. [-]
female reproductive organ cancer	malignant neoplasm of female genital organ; malign.. [+] malignant neoplasm of female genital organ; malignant Gynecologic tumor; female reproductive cancer [-]	A reproductive organ cancer that is manifested in ..[+] A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. [-]
vaginal carcinosarcoma	malignant vaginal mixed epithelial and mesenchymal.. [+] malignant vaginal mixed epithelial and mesenchymal tumor; vaginal malignant mixed mesodermal (mullerian) tumor; vaginal malignant mixed Mullerian tumor; vaginal mixed epithelial and mesenchymal tumor [-]	n_a

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