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Disease	Synonyms	Description
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 IIIB	Mucopoly-saccharidosis type 3B; mucopolysaccharido.. [+] Mucopoly-saccharidosis type 3B; mucopolysaccharidosis type IIIB (Sanfilippo B); Mucopolysaccharidosis type 3B; MPSIIIB; MPS3B; N-acetyl-alpha-glucosaminidase deficiency; Sanfilippo syndrome type B; NAGLU deficiency [-]	A mucopolysaccharidosis III characterized by neuro..[+] A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2. [-]
mucopolysaccharidosis type IIIA	mucopolysaccharidosis type 3A; mucopolysaccharidos.. [+] mucopolysaccharidosis type 3A; mucopolysaccharidosis type IIIA (Sanfilippo A); mucopolysaccharidosis III-A; MPSIIIA; MPS3A; Sanfilippo syndrome type A; heparan sulfamidase deficiency [-]	A mucopolysaccharidosis III characterized by sever..[+] A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. [-]
mucopolysaccharidosis type IIID	MPS IIID; Mucopolysaccharidosis type 3D; MPS3D; GN.. [+] MPS3D; Mucopolysaccharidosis type 3D; 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. [-]
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	MCCCHCM	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13. [-]
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. [-]
melanoma and neural system tumor syndrome	melanoma-astrocytoma syndrome	A syndrome characterized by predisposition to cuta..[+] A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3. [-]
metachondromatosis	METCDS	An osteochondrodysplasia characterized by the pres..[+] An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13. [-]
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome	metaphyseal dysplasia with maxillary hypoplasia wi.. [+] metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly; metaphyseal dysplasia maxillary hypoplasia brachydactyly [-]	An osteochondrodysplasia characterized by metaphys..[+] An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1. [-]
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. [-]
Mullerian aplasia and hyperandrogenism	Mullerian duct failure and hyperandrogenism; WNT4 .. [+] Mullerian duct failure and hyperandrogenism; WNT4 deficiency [-]	A disorder of sexual development characterized by ..[+] A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12. [-]
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 carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. [-]
Martsolf syndrome	cataract-intellectual disability-hypogonadism synd.. [+] cataract-intellectual disability-hypogonadism syndrome [-]	A syndrome characterized by intellectual deficit, ..[+] A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. [-]
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 complex V (ATP synthase) deficiency mitochondrial type 1	MC5DM1	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 6	MC5DN6	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33. [-]
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. [-]
Melnick-Needles syndrome	Melnick-Needles osteodysplasty; MNS; osteodysplast.. [+] MNS; Melnick-Needles osteodysplasty; osteodysplasty of Melnick and Needles [-]	An otopalatodigital syndrome spectrum disorder cha..[+] An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. [-]
methylmalonic acidemia and homocysteinemia cblX type	methylmalonic aciduria with homocystinuria, type c.. [+] methylmalonic aciduria with homocystinuria, type cblX; mental retardation, X-linked 3; combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX [-]	A methylmalonic acidemia characterized by onset in..[+] A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. [-]
Mullegama-Klein-Martinez syndrome	MKMS; X-linked neurodevelopmental disorder with cr.. [+] MKMS; X-linked neurodevelopmental disorder with craniofacial abnormalities; NEDXCF [-]	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. [-]
Meester-Loeys syndrome	MRLS	A syndrome characterized by early-onset aortic ane..[+] A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28. [-]
MEND syndrome	male EBP disorder with neurological defects	A lipid metabolism disorder characterized by a def..[+] A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23. [-]
MLS syndrome	linear skin defects with multiple congenital anoma.. [+] linear skin defects with multiple congenital anomalies [-]	A syndrome characterized by linear skin defects an..[+] A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities. [-]
mutilating palmoplantar keratoderma with periorificial keratotic plaques	mutilating palmoplantar hyperkeratosis with perior.. [+] mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; OLMS; Olmsted syndrome; palmoplantar and periorificial keratoderma [-]	A keratosis characterized by a bilateral mutilatin..[+] A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions. [-]
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. [-]
mitochondrial type mitochondrial complex I deficiency 1	MC1DM1	A mitochondrial type mitochondrial complex I defic..[+] A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome. [-]
McLeod syndrome	MLS; McLeod neuroacanthocytosis syndrome; McLeod t.. [+] McLeod neuroacanthocytosis syndrome; MLS; McLeod type neuroacanthocytosis; McLeod syndrome with or without chronic granulomatous disease; X-linked McLeod syndrome [-]	A neuroacanthocytosis characterized by absence of ..[+] A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1. [-]
myofibrillar myopathy 10	MFM10	A myofibrillar myopathy characterized by onset of ..[+] A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23. [-]
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. [-]
Mayer-Rokitansky-Kuster-Hauser syndrome type 1	MRKH syndrome type 1; congenital absence of uterus.. [+] MRKH syndrome type 1; congenital absence of uterus and vagina; Rokitansky sequence [-]	A Mayer-Rokitansky-Kuster-Hauser syndrome characte..[+] A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype. [-]
Mayer-Rokitansky-Kuster-Hauser syndrome type 2	MURCS; MURCS association; mullerian duct aplasia-r.. [+] MURCS association; MURCS; mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia; MRKH syndrome type 2; atypical MRKH syndrome [-]	A Mayer-Rokitansky-Kuster-Hauser syndrome characte..[+] A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. [-]
mismatch repair cancer syndrome	MMR deficiency; brain tumor-polyposis syndrome 1; .. [+] MMR deficiency; brain tumor-polyposis syndrome 1; BTP1 syndrome; BTPS1; childhood cancer syndrome; CMMR-D syndrome; CMMRDS; constitutional mismatch repair deficiency syndrome; Turcot syndrome [-]	A syndrome characterized by predisposition for dev..[+] A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively. [-]
multiple congenital anomalies-hypotonia-seizures syndrome 4	MCAHS4; DEE77; developmental and epileptic encepha.. [+] MCAHS4; DEE77; developmental and epileptic encephalopathy 77; early infantile epileptic encephalopathy 77; glycosylphosphatidylinositol biosynthesis defect 19; GPIBD19 [-]	A multiple congenital anomalies-hypotonia-seizures..[+] A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3. [-]
microlissencephaly		A lissencephaly characterized by lissencephaly in ..[+] A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly. [-]
multiple benign circumferential skin creases on limbs	CCSF; circumferential skin creases, Kunze type; co.. [+] CCSF; circumferential skin creases, Kunze type; congenital circumferential skin folds; Kunze-Riehm syndrome [-]	A skin disease characterized by benign circumferen..[+] A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. [-]
Mahvash Disease	GCGR-related hyperglucagonemia; nesidioblastosis, .. [+] GCGR-related hyperglucagonemia; nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor [-]	An endocrine pancreas disease characterized by pan..[+] An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3. [-]
male infertility due to acephalic spermatozoa	acephalic spermatozoa syndrome	A spermatogenic failure characterized by male infe..[+] A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads. [-]
male infertility due to globozoospermia	globozoospermia syndrome	A spermatogenic failure characterized by male infe..[+] A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects. [-]
methemoglobinemia and ambiguous genitalia	methemoglobinemia type IV; methemoglobinemia due t.. [+] methemoglobinemia type IV; methemoglobinemia due to deficiency of cytochrome b5; METAG; pure isolated 17,20-lyase deficiency [-]	A disorder of sexual development characterized by ..[+] A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3. [-]
muscular dystrophy-dystroglycanopathy	MDDG; CMD due to dystroglycanopathy; congenital mu.. [+] MDDG; CMD due to dystroglycanopathy; congenital muscular dystrophy due to dystroglycanopathy [-]	A congenital muscular dystrophy characterized by m..[+] A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan. [-]
muscular dystrophy-dystroglycanopathy type B	MDDGB	A muscular dystrophy-dystroglycanopathy characteri..[+] A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies. [-]
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 B14	MDDGB14; congenital muscular dystrophy GMPPB-relat.. [+] MDDGB14; congenital muscular dystrophy GMPPB-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 GMPPB gene on chromosome 3p21.31. [-]
muscular dystrophy-dystroglycanopathy type B3	MDDGB3; congenital muscular dystrophy POMGNT1-rela.. [+] MDDGB3; congenital muscular dystrophy POMGNT1-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 POMGNT1 gene on chromosome 1p34.1. [-]
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 characterized 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. [-]
muscular dystrophy-dystroglycanopathy type C12	muscular dystrophy-dystroglycanopathy, limb-girdle.. [+] muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related; MDDGC12; LGMD due to POMK deficiency; Limb-girdle muscular dystrophy due to POMK deficiency [-]	A muscular dystrophy-dystroglycanopathy characteri..[+] A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21. [-]
muscular dystrophy-dystroglycanopathy type C8	muscular dystrophy-dystroglycanopathy, limb-girdle.. [+] muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related; muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8; MDDGC2; autosomal recessive limb-girdle muscular dystrophy 24; LGMDR24 [-]	A muscular dystrophy-dystroglycanopathy characteri..[+] A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. [-]
pericardium cancer	malignant neoplasm of pericardium; malignant tumor.. [+] malignant neoplasm of pericardium; malignant tumor of Pericardium; Pericardial tumor [-]	n_a

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