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Disease	Synonyms	Description	Articles
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. [-]
mitochondrial complex IV deficiency nuclear type 3	MC4DN3	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 COX10 gene on chromosome 17p12. [-]
mitochondrial complex IV deficiency nuclear type 4	MC4DN4	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 SCO1 gene on chromosome 17p13.1. [-]
mitochondrial complex IV deficiency nuclear type 7	MC4DN7	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12. [-]
mitochondrial complex IV deficiency nuclear type 8	MC4DN8	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3. [-]
mitochondrial complex IV deficiency nuclear type 10	MC4DN10	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12. [-]
mitochondrial complex IV deficiency nuclear type 11	MC4DN11	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44. [-]
mitochondrial complex IV deficiency nuclear type 12	MC4DN12	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2. [-]
mitochondrial complex IV deficiency nuclear type 14	MC4DN14	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. [-]
mitochondrial complex IV deficiency nuclear type 15	MC4DN15	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1. [-]
mitochondrial complex IV deficiency nuclear type 16	MC4DN16	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1. [-]
mitochondrial complex IV deficiency nuclear type 17	MC4DN17	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 COA8 gene on chromosome 14q32.33. [-]
mitochondrial complex IV deficiency nuclear type 18	MC4DN18	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 COX6A2 gene on chromosome 16p11.2. [-]
mitochondrial complex IV deficiency nuclear type 19	MC4DN19	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23. [-]
mitochondrial complex IV deficiency nuclear type 20	MC4DN20	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2. [-]
mitochondrial complex IV deficiency nuclear type 21	MC4DN21	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3. [-]
mitochondrial complex IV deficiency nuclear type 22	MC4DN22	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2. [-]
metabolic dysfunction and alcohol associated liver disease	MetALD; metabolic dysfunction and alcohol related .. [+] MetALD; metabolic dysfunction and alcohol related liver disease [-]	A steatotic liver disease characterized by at leas..[+] A steatotic liver disease characterized by at least one of the five cardiometabolic risk factors for MASLD and alcohol consumption of 140-350g/week (females) or 210-420g/week (males). This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the MASLD cardiometabolic risk factors. [-]
Mitchell syndrome		A peroxisomal disease characterized by progressive..[+] A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1. [-]
muscular disease		A musculoskeletal system disease that affects the ..[+] A musculoskeletal system disease that affects the muscles. [-]	34 articles
metaphyseal dysplasia	Bakwin-Krida syndrome; Pyle's disease; Pyle-Cohn s.. [+] Bakwin-Krida syndrome; Pyle's disease; Pyle-Cohn syndrome [-]	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone. [-]
mucolipidosis II alpha/beta	mucolipidosis II; mucolipidosis II alpha/beta; I-c.. [+] mucolipidosis II alpha/beta; mucolipidosis II; I-cell disease; inclusion-cell disease [-]	A mucolipidosis that is characterized by short sta..[+] A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene. [-]
mucolipidosis III alpha/beta	mucolipidosis III; pseudo-Hurler polydystrophy	A mucolipidosis that has_material_basis_in mutatio..[+] A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase. [-]	1 articles
myofibrillar myopathy 1	desminopathy; autosomal recessive limb-girdle musc.. [+] desminopathy; autosomal recessive limb-girdle muscular dystrophy type 2R [-]	A myofibrillar myopathy that has_material_basis_in..[+] A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. [-]
myofibrillar myopathy 2	alpha-b crystallinopathy	A myofibrillar myopathy that has_material_basis_in..[+] A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. [-]
myofibrillar myopathy 3	myotilinopathy; autosomal dominant limb-girdle mus.. [+] myotilinopathy; autosomal dominant limb-girdle muscular dystrophy type 1A; LGMD 1A; spheroid body myopathy [-]	A myofibrillar myopathy that has_material_basis_in..[+] A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31. [-]
myofibrillar myopathy 4	zaspopathy	n_a
myofibrillar myopathy 5	filaminopathy	n_a
myofibrillar myopathy 6	BAG3-related myofibrillar myopathy	n_a
myofibrillar myopathy 7	alpha-b crystalin-related fatal infantile hyperton.. [+] alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy [-]	n_a
myopathy, lactic acidosis, and sideroblastic anemia		A mitochondrial myopathy that is characterized by ..[+] A mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. [-]
microcephaly and chorioretinopathy 1		A syndrome that is characterized by delayed psycho..[+] A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. [-]
microcephaly and chorioretinopathy 2		A syndrome that is characterized by delayed psycho..[+] A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene. [-]
microcephaly and chorioretinopathy 3		A syndrome that is characterized by congenital mic..[+] A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene. [-]
myoglobinuria		A myopathy that is characterized by an increased u..[+] A myopathy that is characterized by an increased urinary excretion of myoglobin. [-]
mitochondrial complex III deficiency nuclear type 1		A mitochondrial complex III deficiency characteriz..[+] A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35. [-]
mitochondrial complex III deficiency nuclear type 3		A mitochondrial complex III deficiency that has_ma..[+] A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22. [-]
mitochondrial complex III deficiency nuclear type 4		A mitochondrial complex III deficiency that has_ma..[+] A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31. [-]
mitochondrial complex III deficiency nuclear type 5		A mitochondrial complex III deficiency characteriz..[+] A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12. [-]
mitochondrial complex III deficiency nuclear type 6		A mitochondrial complex III deficiency characteriz..[+] A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24. [-]
mitochondrial complex III deficiency nuclear type 7		A mitochondrial complex III deficiency that has_ma..[+] A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21. [-]
mitochondrial complex III deficiency nuclear type 8		A mitochondrial complex III deficiency characteriz..[+] A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23. [-]
mitochondrial complex III deficiency nuclear type 9		A mitochondrial complex III deficiency that has_ma..[+] A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12. [-]
mitochondrial DNA depletion syndrome 1	mitochondrial neurogastrointestinal encephalopathy.. [+] mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related; mitochondrial DNA depletion syndrome 1 (MNGIE type) [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13. [-]
mitochondrial DNA depletion syndrome 2	TK2-related mitochondrial DNA depletion syndrome, .. [+] TK2-related mitochondrial DNA depletion syndrome, myopathic form [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21. [-]
mitochondrial DNA depletion syndrome 3	deoxyguanosine kinase deficiency	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13. [-]
mitochondrial DNA depletion syndrome 4b	mitochondrial neurogastrointestinal encephalopathy.. [+] mitochondrial neurogastrointestinal encephalopathy syndrome [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26. [-]
mitochondrial DNA depletion syndrome 5		n_a
mitochondrial DNA depletion syndrome 6		n_a

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