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Disease	Synonyms	Description	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. [-]
Meier-Gorlin syndrome 8		A Meier-Gorlin syndrome that has_material_basis_in..[+] A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12. [-]
multiple mitochondrial dysfunctions syndrome 5		A multiple mitochondrial dysfunctions syndrome tha..[+] A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21. [-]
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. [-]
myofibrillar myopathy 8		A myofibrillar myopathy that is characterized by c..[+] A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12. [-]
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. [-]
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly	MARCH	A syndrome that is characterized by severe hydrane..[+] A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23. [-]
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. [-]
mitochondrial DNA depletion syndrome 14		A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29. [-]
mitochondrial DNA depletion syndrome 15		A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle and has_material_basis_in homozygous mutation in the TFAM gene on chromosome 10q21. [-]
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. [-]
malignant adenoma		A cell type cancer that is composed_of epithelial ..[+] A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer. [-]
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. [-]	1 articles
mucolipidosis		A lipid storage disease that is characterized by i..[+] A lipid storage disease that is characterized by increased storage of carbohydrates and lipids. [-]
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. [-]
Meier-Gorlin syndrome 1		A Meier-Gorlin syndrome that has_material_basis_in..[+] A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32. [-]
Meier-Gorlin syndrome 2		A Meier-Gorlin syndrome that has_material_basis_in..[+] A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23. [-]
Meier-Gorlin syndrome 3		A Meier-Gorlin syndrome that has_material_basis_in..[+] A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11. [-]
Meier-Gorlin syndrome 4		A Meier-Gorlin syndrome that has_material_basis_in..[+] A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24. [-]
Meier-Gorlin syndrome 5		A Meier-Gorlin syndrome that has_material_basis_in..[+] A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC6 gene on chromosome 17q21. [-]
Meier-Gorlin syndrome 6		A Meier-Gorlin syndrome that has_material_basis_in..[+] A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22. [-]
Meier-Gorlin syndrome 7		A Meier-Gorlin syndrome that has_material_basis_in..[+] A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11. [-]
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	MERS	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 Middle East respiratory syndrome-related coronavirus (MERS-CoV, Betacoronavirus cameli). [-]
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 is characterized by short sta..[+] A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTG gene, which encodes the gamma subunit of N-acetylglucosamine-1-phosphotransferase, on chromosome 16p13. [-]
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. [-]
mosaic variegated aneuploidy syndrome 3		A mosaic variegated aneuploidy syndrome that has_m..[+] A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein. [-]
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. [-]

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