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Disease	Synonyms	Description	Articles
Muenke Syndrome	FGFR3-related craniosynostosis	A craniosyntosis characterized by autosomal domina..[+] A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. [-]
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	methylmalonic acidemia due to methylmalonyl-CoA mu.. [+] methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency; methylmalonic aciduria mut type; vitamin B12-unresponsive methylmalonic aciduria [-]	A methylmalonic acidemia characterized by accumula..[+] A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3. [-]
methylmalonic acidemia due to transcobalamin receptor defect	methylmalonic acidemia, TCblR type; methylmalonic .. [+] methylmalonic acidemia, TCblR type; methylmalonic aciduria due to transcobalamin receptor defect; methylmalonic acidemia, TCbIR type; methylmalonic acidemia, TCb1R type [-]	A methylmalonic acidemia characterized by autosoma..[+] A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene. [-]
methylmalonic acidemia cblA type	methylmalonic aciduria cblA type; methylmalonic ac.. [+] methylmalonic aciduria cblA type; methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type; methylmalonic aciduria cb1A type [-]	A methylmalonic acidemia characterized by autosoma..[+] A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31. [-]
methylmalonic acidemia cblB type	methylmalonic aciduria, vitamin B12-responsive, du.. [+] methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type; methylmalonic aciduria cblB type; methylmalonic aciduria cb1B type [-]	A methylmalonic acidemia characterized by autosoma..[+] A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24. [-]
multiple types of congenital heart defects 6	DTGA3; dextro-looped transposition of the great ar.. [+] DTGA3; dextro-looped transposition of the great arteries 3 [-]	A congenital heart disease that is characterized b..[+] A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that \nhas_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. [-]	1 articles
microvillus inclusion disease	MVD; congenital microvillus atrophy; Davidson dise.. [+] MVD; congenital microvillus atrophy; Davidson disease; diarrhea 2 with microvillus atrophy; intractable diarrhea of infancy; congenital familial protracted diarrhea with enterocyte brush-border abnormalities [-]	A congenital diarrhea characterized by onset of in..[+] A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. [-]
MEHMO syndrome	MRXS20; MRXS25; mental retardation, epileptic seiz.. [+] MRXS25; MRXS20; mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; syndromic X-linked mental retardation 25; syndromic X-linked mental retardation 20; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1. [-]
Miles-Carpenter syndrome	mental retardation, X-linked, with congenital cont.. [+] mental retardation, X-linked, with congenital contractures and low fingertip arches; MCS; MRXS4; mental retardation, X-linked, syndromic 4; X-linked intellectual disability, Miles-Carpenter type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. [-]
microphthalmia with limb anomalies	MLA; OAS; ophthalmoacromelic syndrome; Waardenburg.. [+] MLA; OAS; ophthalmoacromelic syndrome; Waardenburg anophthalmia syndrome; anophthalmia-syndactyly syndrome [-]	A syndrome that is characterized by autosomal rece..[+] A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. [-]
mal de Meleda	Meleda disease; keratosis palmoplantaris transgred.. [+] Meleda disease; keratosis palmoplantaris transgrediens of Siemens; transgrediens palmoplantar keratoderma of Siemens [-]	A palmoplantar keratosis characterized by autosoma..[+] A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. [-]
macrocephaly-autism syndrome	macrocephaly-intellectual disability-autism syndro.. [+] macrocephaly-intellectual disability-autism syndrome [-]	A syndrome characterized by macrocephaly, facial p..[+] A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. [-]	2 articles
myeloid neoplasm	myeloma	A bone marrow cancer that is formed of any one of ..[+] A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages. [-]	3 articles
Meckel syndrome 1	MKS1; Meckel-Gruber syndrome, type 1	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22. [-]
Meckel syndrome 2	MKS2; Meckel-Gruber syndrome, type 2	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. [-]
Meckel syndrome 3	MKS3; Meckel-Gruber syndrome, type 3	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1. [-]
Meckel syndrome 4	MKS4; Meckel-Gruber syndrome, type 4	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. [-]
Meckel syndrome 5	MKS5; Meckel-Gruber syndrome, type 5	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. [-]
Meckel syndrome 6	MKS6; Meckel-Gruber syndrome, type 6	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32. [-]	1 articles
Meckel syndrome 7	Meckel-Gruber syndrome, type 7; MKS7	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1. [-]
Meckel syndrome 8	MKS8; Meckel-Gruber syndrome, type 8	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31. [-]
Miyoshi muscular dystrophy	Miyoshi myopathy	A distal myopathy that is characterized by autosom..[+] A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. [-]
Miyoshi muscular dystrophy 2	MMD2; Miyoshi myopathy 2	A Miyoshi muscular dystrophy characterized by asym..[+] A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10. [-]
Miyoshi muscular dystrophy 3	MMD3; Miyoshi myopathy 3	A Miyoshi muscular dystrophy that has_material_bas..[+] A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14. [-]
multiple epiphyseal dysplasia 5	multiple epiphyseal dysplasia MATN3-related; BHMED.. [+] multiple epiphyseal dysplasia MATN3-related; BHMED; bilateral hereditary microepiphyseal dysplasia; EDM5 [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. [-]
multiple epiphyseal dysplasia 4	multiple epiphyseal dysplasia with bilateral patel.. [+] multiple epiphyseal dysplasia with bilateral patellae; multiple epiphyseal dysplasia with clubfoot; MED4; Polyepiphyseal dysplasia type 4; rMED; EDM4 [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. [-]
multiple epiphyseal dysplasia 1	MED1; multiple epiphyseal dysplasia COMP-related; .. [+] multiple epiphyseal dysplasia COMP-related; MED1; EDM1; polyepiphyseal dysplasia type 1 [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. [-]
multiple epiphyseal dysplasia due to collagen 9 anomaly		A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3). [-]
Miura type epiphyseal chondrodysplasia	ECDM; tall stature-scoliosis-macrodactyly of the g.. [+] ECDM; tall stature-scoliosis-macrodactyly of the great toes syndrome; tall stature-scoliosis-macrodactyly of the halluces syndrome [-]	A bone developmental disease characterized by tall..[+] A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. [-]
miliaria pustulosa		A miliaria that is characterized by pustules resul..[+] A miliaria that is characterized by pustules resulting from inflammation and bacterial infection. [-]
miliaria profunda	ICD10CM:L74.2; SNOMEDCT_US_2020_03_01:47317002	A miliaria that is characterized by ductal occlusi..[+] A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash. [-]
miliaria crystallina		A miliaria that is characterized by clear, superfi..[+] A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located_in the stratum corneum. [-]
malignant childhood adrenal gland pheochromocytoma	malignant pediatric adrenal gland pheochromocytoma.. [+] malignant pediatric adrenal gland pheochromocytoma [-]	An adrenal gland pheochromocytoma that is characte..[+] An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults. [-]
melanoma in congenital melanocytic nevus	melanocytic nevi; Malignant melanoma in congenital.. [+] melanocytic nevi; Malignant melanoma in congenital melanocytic nevus [-]	A skin melanoma that arises from a congenital mela..[+] A skin melanoma that arises from a congenital melanocytic nevus. [-]
mitochondrial DNA depletion syndrome	mtDNA depletion syndrome	A mitochondrial metabolism disease that is charact..[+] A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs. [-]
multiple mitochondrial dysfunctions syndrome	fatal multiple mitochondrial dysfunction syndrome; .. [+] fatal multiple mitochondrial dysfunction syndrome [-]	A mitochondrial metabolism disease that is charact..[+] A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of of energy production resulting from mitochondria impairment. [-]
multiple mitochondrial dysfunctions syndrome 6		A multiple mitochondrial dysfunctions syndrome tha..[+] A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB gene on chromosome 7q22. [-]
multisystem proteinopathy		A motor neuron disease that has_material_basis_in ..[+] A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system. [-]
mitochondrial DNA depletion syndrome 16	mitochondrial DNA depletion syndrome 16 (hepatic t.. [+] mitochondrial DNA depletion syndrome 16 (hepatic type) [-]	A mitochondrial DNA depletion syndrome characteriz..[+] A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3. [-]
mitochondrial DNA depletion syndrome 16B	mitochondrial DNA depletion syndrome 16B (neurooph.. [+] mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) [-]	A mitochondrial DNA depletion syndrome characteriz..[+] A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23. [-]
mitochondrial DNA depletion syndrome 17		A mitochondrial DNA depletion syndrome characteriz..[+] A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome. [-]
mitochondrial DNA depletion syndrome 18		A mitochondrial DNA depletion syndrome characteriz..[+] A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3. [-]
mitochondrial DNA depletion syndrome 19		A mitochondrial DNA depletion syndrome that has_ma..[+] A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3. [-]
mitochondrial DNA depletion syndrome 20	mitochondrial DNA depletion syndrome 20 (MNGIE typ.. [+] mitochondrial DNA depletion syndrome 20 (MNGIE type) [-]	A mitochondrial DNA depletion syndrome characteriz..[+] A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A	MC5DN4A	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B	MC5DN4B	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 5	MC5DN5	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 7	MC5DN7	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11. [-]
mitochondrial complex IV deficiency nuclear type 23	MC4DN23	A cytochrome-c oxidase deficiency disease characte..[+] A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. [-]
mitochondrial complex IV deficiency nuclear type 1	MC4DN1	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. [-]

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