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Disease	Synonyms	Description	Articles
mitochondrial DNA depletion syndrome 9	fatal infantile lactic acidosis	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11. [-]
mitochondrial DNA depletion syndrome 11	progressive external ophthalmoplegia-myopathy-emac.. [+] progressive external ophthalmoplegia-myopathy-emaciation syndrome [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11. [-]
mitochondrial DNA depletion syndrome 12		n_a
mitochondrial DNA depletion syndrome 13	mitochondrial DNA depletion syndrome 13, encephalo.. [+] mitochondrial DNA depletion syndrome 13, encephalomyopathic type; FBXL4 deficiency; FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16. [-]
multiple mitochondrial dysfunctions syndrome 1		n_a
multiple mitochondrial dysfunctions syndrome 2	multiple mitochondrial dysfunctions syndrome 2 wit.. [+] multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia; BOLA3 deficiency [-]	A multiple mitochondrial dysfunctions syndrome tha..[+] A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13. [-]
multiple mitochondrial dysfunctions syndrome 3	IBA57 deficiency	A multiple mitochondrial dysfunctions syndrome tha..[+] A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42. [-]
multiple mitochondrial dysfunctions syndrome 4		A multiple mitochondrial dysfunctions syndrome tha..[+] A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24. [-]
multiple endocrine neoplasia type 4	Multiple Endocrine Neoplasia, Type IV	A multiple endocrine neoplasia that is characteriz..[+] A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked. [-]
multiple congenital anomalies-hypotonia-seizures syndrome 1		n_a
multiple congenital anomalies-hypotonia-seizures syndrome 2	developmental and epileptic encephalopathy 20; ear.. [+] developmental and epileptic encephalopathy 20; early infantile epileptic encephalopathy 20; glycosylphosphatidylinositol biosynthesis defect 4 [-]	A multiple congenital anomalies-hypotonia-seizures..[+] A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. [-]
multiple congenital anomalies-hypotonia-seizures syndrome 3	M syndrome; light fixation seizure syndrome	A multiple congenital anomalies-hypotonia-seizures..[+] A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. [-]
mosaic variegated aneuploidy syndrome 1		A mosaic variegated aneuploidy syndrome that is ch..[+] A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15. [-]
mosaic variegated aneuploidy syndrome 2		A mosaic variegated aneuploidy syndrome that is ch..[+] A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21. [-]
medium chain acyl-CoA dehydrogenase deficiency		A lipid metabolism disorder that is characterized ..[+] A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting. [-]
myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1	Myeloid and Lymphoid Neoplasms with Eosinophilia a.. [+] Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2; Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms [-]	A myeloid neoplasm that is characterized by the fo..[+] A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. [-]
myeloid and lymphoid neoplasms associated with PDGFRA rearrangement	Myeloid and Lymphoid Neoplasms with PDGFRA Rearran.. [+] Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement [-]	A myeloid and lymphoid neoplasms with eosinophilia..[+] A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. [-]
myeloid and lymphoid neoplasms associated with PDGFRB rearrangement	Myeloid and Lymphoid Neoplasms with PDGFRB Rearran.. [+] Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement [-]	A myeloid and lymphoid neoplasms with eosinophilia..[+] A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. [-]
myeloid and lymphoid neoplasms associated with FGFR1 abnormalities		A myeloid and lymphoid neoplasms with eosinophilia..[+] A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. [-]
meningococcal meningitis		A bacterial meningitis that has_material_basis_in ..[+] A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection. [-]
mucositis		A gastrointestinal system disease that is characte..[+] A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract. [-]
mixed fibrolamellar hepatocellular carcinoma		A fibrolamellar carcinoma that is characterized by..[+] A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. [-]
medullary colon carcinoma		A colon carcinoma that is characterized by a solid..[+] A colon carcinoma that is characterized by a solid growth pattern. [-]
mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma	mixed mucinous and non-mucinous bronchioloalveolar.. [+] mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma; indeterminate bronchioloalveolar carcinoma [-]	A bronchiolo-alveolar adenocarcinoma that is chara..[+] A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin). [-]
mucinous bronchioloalveolar adenocarcinoma		A bronchiolo-alveolar adenocarcinoma that is chara..[+] A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. [-]
malignant hemangioma		A cell type cancer of vascular origin, characteriz..[+] A cell type cancer of vascular origin, characterized by proliferation of endothelial cells in and about the vascular lumen. [-]
malignant epithelioid hemangioendothelioma		A malignant hemangioma characterized by the presen..[+] A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. [-]
Marinesco-Sjogren syndrome	Marinesco-Garland syndrome; Garland-Moorhouse synd.. [+] Marinesco-Garland syndrome; Garland-Moorhouse syndrome; hereditary oligophrenic cerebello-lental degeneration; Oligophrenic cerebellolenticular degeneration [-]	A syndrome characterized by congenital cataracts, ..[+] A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. [-]
mandibulofacial dysostosis, Guion-Almeida type	mandibulofacial dysostosis-microcephaly syndrome; .. [+] mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome; mandibulofacial dysostosis with microcephaly [-]	A syndrome characterized by progressive microcepha..[+] A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia. [-]
metabolic dysfunction-associated steatotic liver disease	metabolic-associated fatty liver disease; metaboli.. [+] metabolic-associated fatty liver disease; metabolic dysfunction-related steatotic liver disease; metabolic dysfunction-associated fatty liver disease; MASLD; MAFLD; non-alcoholic fatty liver disease; NAFLD; nonalcoholic fatty liver disease [-]	A steatotic liver disease characterized by at leas..[+] A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are:\n(1) Body mass index ≥ 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.\n(2) Fasting serum glucose ≥ 5.6 mmol/L, 2-hr post-load glucose levels ≥ 7.8 mmol/L, glycated hemoglobin (HbA1c) ≥ 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose ≥ 11.1 mmol/L (pediatric only).\n(3) Blood pressure ≥ lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age ≥ 13 years); or specific hypertensive drug treatment.\n(4) Plasma triglycerides ≥ 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age ≥ 10 years); or lipid lowering treatment.\n(5) Plasma high-density lipoprotein cholesterol ≤ 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment. [-]	3 articles
Meckel syndrome 13		A Meckel syndrome that has_material_basis_in homoz..[+] A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality. [-]
mixed sleep apnea	complex sleep apnea	A sleep apnea that is characterized by a combinati..[+] A sleep apnea that is characterized by a combination of central and obstructive sleep apnea. [-]
mucinous lung adenocarcinoma		A lung adenocarcinoma with tumor cells floating in..[+] A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces. [-]
myofibrillar myopathy		A myopathy that is characterized by slowly progres..[+] A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles. [-]
megalencephalic leukoencephalopathy with subcortical cysts	megalencephalic leukodystrophy megalencephaly-cyst.. [+] megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome; megalencephalic leukodystrophy\\megalencephaly-cystic leukodystorphy syndrome; vacuolating megalencephalic leukoencephalopathy with subcortical cysts [-]	A leukodystorphy characterized by infantile-onset ..[+] A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. [-]
megalencephalic leukoencephalopathy with subcortical cysts 1	leukoencephalopathy with swelling and cysts; Van D.. [+] leukoencephalopathy with swelling and cysts; Van Der Knaap disease [-]	A megalencephalic leukoencephalopathy with subcort..[+] A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13. [-]
megalencephalic leukoencephalopathy with subcortical cysts 2B	megalencephalic leukoencephalopathy with subcortic.. [+] megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation [-]	A megalencephalic leukoencephalopathy with subcort..[+] A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24. [-]
megalencephalic leukoencephalopathy with subcortical cysts 2A		A megalencephalic leukoencephalopathy with subcort..[+] A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the HEPACAM gene on chromosome 11q24. [-]
mitochondrial DNA depletion syndrome 12b		A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35. [-]
malignant pheochromocytoma	Pheochromocytoma, malignant	An adrenal medulla cancer that arises within the a..[+] An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones. [-]
mitochondrial complex IV deficiency nuclear type 2	MC4DN2; fatal infantile cardioencephalomyopathy du.. [+] MC4DN2; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 [-]	A COX deficiency, infantile mitochondrial myopathy..[+] A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. [-]
mitochondrial complex IV deficiency nuclear type 6	MC4DN6; fatal infantile cardioencephalomyopathy du.. [+] MC4DN6; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 [-]	A COX deficiency, infantile mitochondrial myopathy..[+] A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. [-]
mitochondrial complex IV deficiency nuclear type 9	MC4DN9; fatal infantile cardioencephalomyopathy du.. [+] MC4DN9; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 [-]	A COX deficiency, infantile mitochondrial myopathy..[+] A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. [-]
mitochondrial complex IV deficiency nuclear type 13	MC4DN13; fatal infantile cardioencephalomyopathy d.. [+] MC4DN13; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 [-]	A COX deficiency, infantile mitochondrial myopathy..[+] A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. [-]
mitochondrial pyruvate carrier deficiency		A mitochondrial metabolism disease that is charact..[+] A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. [-]
microcephaly, seizures, and developmental delay	developmental and epileptic encephalopathy 10; ear.. [+] developmental and epileptic encephalopathy 10; early infantile epileptic encephalopathy 10 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. [-]
mucolipidosis type IV		A mucolipidosis that is characterized by delayed d..[+] A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time. [-]
multiple congenital anomalies-hypotonia-seizures syndrome		A lipid metabolism disorder that is characterized ..[+] A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies. [-]
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. [-]

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