{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2460&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2420&ordering=-identifier","results":[{"identifier":"Mononeuropathy of the median nerve mild.","acronym":"MNMN.","accession":"DI-02929","synonyms":"Carpal tunnel syndrome.; ","cross_references":"MeSH; D002349.","definition":"A disease characterized by median nerve mononeuropathy at the wrist. The clinical presentation ranges from a mild phenotype, consistent with carpal tunnel syndrome, to a severe median nerve mononeuropathy at the wrist associated with evidence of a more widespread axonal polyneuropathy. The latter phenotype is similar to that of patients with hereditary neuropathy with liability to pressure palsies. ","keywords":null},{"identifier":"Monocarboxylate transporter 8 deficiency.","acronym":"MCT8 deficiency.","accession":"DI-01993","synonyms":"AHDS.; Allan-Herndon-Dudley syndrome.; ","cross_references":"MedGen; C0795889.","definition":"Consists of a severe form of X-linked psychomotor retardation combined with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency can be caused by defects of hormone synthesis and action, but it has also been linked to a defect in cellular hormone transport. Affected patients are males with abnormal relative concentrations of three circulating iodothyronines, as well as severe neurological abnormalities, including global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing. Heterozygous females had a milder thyroid phenotype and no neurological defects. ","keywords":null},{"identifier":"Monocarboxylate transporter 1 deficiency.","acronym":"MCT1D.","accession":"DI-04263","synonyms":null,"cross_references":"MeSH; D007662.","definition":"A metabolic disorder characterized by recurrent ketoacidosis, a pathologic state due to ketone formation exceeding ketone utilization. The clinical consequences of ketoacidosis are vomiting, osmotic diuresis, dehydration, and Kussmaul breathing. The condition may progress to decreased consciousness and, ultimately, death. ","keywords":null},{"identifier":"Monilethrix.","acronym":"MNLIX.","accession":"DI-01992","synonyms":null,"cross_references":"MeSH; D056734.","definition":"A disorder clinically characterized by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected. ","keywords":null},{"identifier":"Molybdenum cofactor deficiency C.","acronym":"MOCODC.","accession":"DI-01991","synonyms":"Molybdenum cofactor deficiency, complementation group C.; Molybdenum cofactor deficiency, type C.; ","cross_references":"MeSH; D008664.","definition":"A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. ","keywords":null},{"identifier":"Molybdenum cofactor deficiency B.","acronym":"MOCODB.","accession":"DI-01990","synonyms":"Molybdenum cofactor deficiency, complementation group B.; Molybdenum cofactor deficiency, type B.; ","cross_references":"MeSH; D008664.","definition":"An autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood. ","keywords":null},{"identifier":"Molybdenum cofactor deficiency A.","acronym":"MOCODA.","accession":"DI-01989","synonyms":"Combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase.; Molybdenum cofactor deficiency, complementation group A.; Molybdenum cofactor deficiency, type A.; ","cross_references":"MeSH; D008664.","definition":"An autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. ","keywords":null},{"identifier":"Mohr-Tranebjaerg syndrome.","acronym":"MTS.","accession":"DI-01988","synonyms":"DDP.; DDS.; Deafness-dystonia-optic atrophy syndrome.; Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency.; DFN-1.; Dystonia-deafness syndrome.; Jensen syndrome.; Opticoacoustic nerve atrophy with dementia.; X-linked progressive deafness type 1.; ","cross_references":"MeSH; D054062.","definition":"An X-linked recessive disorder characterized by postlingual sensorineural deafness with onset in early childhood, dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. ","keywords":"KW-0209:Deafness.; KW-1023:Dystonia.; "},{"identifier":"Miyoshi muscular dystrophy 3.","acronym":"MMD3.","accession":"DI-02704","synonyms":"Miyoshi myopathy 3.; ","cross_references":"MeSH; D049310.","definition":"A late-onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric. ","keywords":null},{"identifier":"Miyoshi muscular dystrophy 1.","acronym":"MMD1.","accession":"DI-01987","synonyms":"Miyoshi myopathy.; Muscular dystrophy distal late-onset autosomal recessive.; ","cross_references":"MeSH; D049310.","definition":"A late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood. ","keywords":null},{"identifier":"Mitral valve prolapse 3.","acronym":"MVP3.","accession":"DI-05973","synonyms":"Mitral valve prolapse, myxomatous 3.; MMVP3.; Myxomatous mitral valve prolapse 3.; ","cross_references":"MeSH; D008945.","definition":"An autosomal dominant form of mitral valve prolapse, a valvular heart disease characterized by abnormally elongated and thickened mitral valve leaflets, that typically show myxomatous degeneration with increased leaflet compliance. It is associated with mitral regurgitation. Myxomatous mitral valves have an abnormal layered architecture characterized by loose collagen in fibrosa, expanded spongiosa strongly positive for proteoglycans, and disrupted elastin in atrialis. In classic mitral valve prolapse, leaflets are at least 5 mm thick, whereas in the non-classic form, they are less than 5 mm thick. Severe classic mitral valve prolapse is strongly associated with arrhythmias, endocarditis, heart failure, and need for valve surgery. ","keywords":null},{"identifier":"Mitral valve prolapse 2.","acronym":"MVP2.","accession":"DI-04583","synonyms":"Mitral valve prolapse, myxomatous 2.; MMVP2.; Myxomatous mitral valve prolapse 2.; ","cross_references":"MeSH; D008945.","definition":"A form of mitral valve prolapse, a valvular heart disease characterized by abnormally elongated and thickened mitral valve leaflets, that typically show myxomatous degeneration with increased leaflet compliance. It is associated with mitral regurgitation. Myxomatous mitral valves have an abnormal layered architecture characterized by loose collagen in fibrosa, expanded spongiosa strongly positive for proteoglycans, and disrupted elastin in atrialis. In classic mitral valve prolapse, leaflets are at least 5 mm thick, whereas in the non-classic form, they are less than 5 mm thick. Severe classic mitral valve prolapse is strongly associated with arrhythmias, endocarditis, heart failure, and need for valve surgery. MVP2 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Mitochondrial trifunctional protein deficiency 2.","acronym":"MTPD2.","accession":"DI-06635","synonyms":null,"cross_references":"MeSH; D017240.","definition":"An autosomal recessive metabolic disorder of long-chain fatty acid oxidation, biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. The disease phenotype ranges from a fatal form characterized by early- onset cardiomyopathy, cardiac failure and early death to less severe, late-onset forms with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy as key features. ","keywords":null},{"identifier":"Mitochondrial trifunctional protein deficiency 1.","acronym":"MTPD1.","accession":"DI-02388","synonyms":"Trifunctional protein deficiency.; Trifunctional protein deficiency with myopathy and neuropathy.; ","cross_references":"MeSH; D017240.","definition":"An autosomal recessive metabolic disorder of long-chain fatty acid oxidation, biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. The disease phenotype ranges from a fatal form characterized by early- onset cardiomyopathy, cardiac failure and early death to less severe, late-onset forms with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy as key features. ","keywords":null},{"identifier":"Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency.","acronym":"ECHS1D.","accession":"DI-04359","synonyms":null,"cross_references":"MeSH; D000592.","definition":"A severe, autosomal recessive inborn error affecting valine metabolism. Disease features include brain lesions in the basal ganglia, neurodegeneration, delayed psychomotor development, hypotonia, spasticity, and increased lactic acid in serum and cerebral serum fluid. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Mitochondrial pyruvate carrier deficiency.","acronym":"MPYCD.","accession":"DI-03497","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive metabolic disorder characterized by severely delayed psychomotor development, mild dysmorphic features, hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and encephalopathy. Some patients have epilepsy and peripheral neuropathy. ","keywords":null},{"identifier":"Mitochondrial phosphoenolpyruvate carboxykinase deficiency.","acronym":"M-PEPCKD.","accession":"DI-01986","synonyms":null,"cross_references":"MedGen; C1849821.","definition":"Metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. ","keywords":null},{"identifier":"Mitochondrial phosphate carrier deficiency.","acronym":"MPCD.","accession":"DI-01985","synonyms":"Neonatal hypertrophic cardiomyopathy, respiratory insufficiency, hypotonia, and lactic acidosis.; ","cross_references":"MeSH; D028361.","definition":"An autosomal recessive disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial myopathy with lactic acidosis.","acronym":"MMLA.","accession":"DI-04438","synonyms":null,"cross_references":"MeSH; D017240.","definition":"An autosomal recessive disorder characterized by progressive muscle weakness, hypotonia, seizures, poor weight gain, lactic acidosis, and elevated serum pyruvate concentration. Some patients manifest growth failure and moderate neural deafness. ","keywords":null},{"identifier":"Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy.","acronym":"MEOAL.","accession":"DI-05521","synonyms":null,"cross_references":"MeSH; D017240.","definition":"An autosomal recessive neuromuscular disorder characterized by childhood onset of recurrent episodes of proximal weakness and myalgia often precipitated by exercise, infections or low temperature. Additional features are optic atrophy, axonal polyneuropathy, and reversible or partially reversible leukoencephalopathy. ","keywords":"KW-1274:Primary mitochondrial disease.; "}]}