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Disease	Synonyms	Description	Articles
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 autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A 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. [-]
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 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 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		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. [-]
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. [-]
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. [-]

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