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Disease	Synonyms	Description	Articles
myxofibrosarcoma	fibromyxoid sarcoma	A sarcoma that arises from the soft tissue and is ..[+] A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. [-]
metabolic dysfunction-associated steatohepatitis	MASH; NASH; non-alcoholic steatohepatitis; nonalco.. [+] MASH; NASH; non-alcoholic steatohepatitis; nonalcoholic steatohepatitis [-]	A metabolic dysfunction-associated steatotic liver..[+] A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis. [-]
Middle East respiratory syndrome		A Coronavirus infectious disease that is character..[+] A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in MERS-CoV. [-]
Meesmann corneal dystrophy 1		A Messmann corneal dystrophy that is characterized..[+] A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21. [-]
Meesmann corneal dystrophy 2		A Messmann corneal dystrophy that is characterized..[+] A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13. [-]
mucolipidosis III gamma		A mucolipidosis that has_material_basis_in mutatio..[+] A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. [-]
mosaic variegated aneuploidy syndrome		A syndrome that is characterized by cell mosaicism..[+] A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes. [-]
medulloblastoma WNT activated		A medulloblastoma that is characterized as a molec..[+] A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent. [-]
medulloblastoma SHH activated		A medulloblastoma that is characterized as a molec..[+] A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent. [-]
medulloblastoma SHH activated and TP53 mutant		A medulloblastoma SHH activated that is characteri..[+] A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. [-]
medulloblastoma SHH activated and TP53 wild-type	Medulloblastoma SHH-Activated TP53-Wildtype	A medulloblastoma SHH activated that is characteri..[+] A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. [-]
medulloblastoma non-WNT/non-SHH		A medulloblastoma that is characterized as a molec..[+] A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent. [-]
medulloblastoma non-WNT/non-SHH group 3		A medulloblastoma non-WNT/non-SHH that is characte..[+] A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. [-]
medulloblastoma non-WNT/non-SHH group 4		A medulloblastoma non-WNT/non-SHH that is characte..[+] A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present. [-]
multisystem inflammatory syndrome in children	multisystem inflammatory disorder in children and .. [+] multisystem inflammatory disorder in children and adolescents; MIS-C; paediatric inflammatory multisystemic syndrome [-]	A Coronavirus infectious disease that is character..[+] A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19. [-]
mucinous pancreas adenocarcinoma		A pancreatic adenocarcinoma that derives_from epit..[+] A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. [-]
myeloid leukemia associated with Down Syndrome		An acute megakaryocytic leukemia occurring in chil..[+] An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. [-]
mammary analogue secretory carcinoma		A salivary gland carcinoma that has_material_basis..[+] A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene. [-]
mild cognitive impairment		A cognitive disorder that is characterized by obje..[+] A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living. [-]
mixed phenotype acute leukemia with BCR-ABL1	Mixed Phenotype Acute Leukemia with t(9; 22)(q34.1.. [+] Mixed Phenotype Acute Leukemia with t(9; 22)(q34.1; q11.2); BCR-ABL1 [-]	An acute biphenotypic leukemia that is characteriz..[+] An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR. [-]
mixed phenotype acute leukemia with MLL rearranged	MLL Rearranged; Mixed Phenotype Acute Leukemia wit.. [+] MLL Rearranged; Mixed Phenotype Acute Leukemia with t(v; 11q23.3) [-]	An acute biphenotypic leukemia that is characteriz..[+] An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner. [-]
mixed phenotype acute leukemia, B/myeloid	Mixed Phenotype Acute Leukemia, B/Myeloid	An acute biphenotypic leukemia that is characteriz..[+] An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation. [-]
microcephaly, growth deficiency, seizures, and brain malformations		A syndrome that is characterized by intrauterine g..[+] A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22. [-]
MCD diffuse large B-cell lymphoma	MCD DLBCL	A diffuse large B-cell lymphoma that is categorize..[+] A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding. [-]
Marsili syndrome	congenital analgesia; congenital insensitivity to .. [+] congenital analgesia; congenital insensitivity to pain [-]	A syndrome that is characterized by a lowered abil..[+] A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11. [-]
mandibuloacral dysplasia		A bone development disease that is characterized b..[+] A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body. [-]
mandibuloacral dysplasia type A lipodystrophy		A mandibuloacral dysplasia that has_material_basis..[+] A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. [-]
mandibuloacral dysplasia type B lipodystrophy		A mandibuloacral dysplasia that has_material_basis..[+] A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. [-]
myxoid glioneuronal tumor	Myxoid glioneuronal tumour	A central nervous system benign neoplasm that is c..[+] A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. [-]
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 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 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 [-]	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. [-]

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