{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2200&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2160&ordering=-identifier","results":[{"identifier":"Myxoid liposarcoma.","acronym":"MXLIPO.","accession":"DI-03715","synonyms":null,"cross_references":"MeSH; D018208.","definition":"A soft tissue tumor that tends to occur in the limbs (especially the thigh) of patients ranging in age from 35 to 55 years. It is defined by the presence of a hypocellular spindle cell proliferation set in a myxoid background, often with mucin pooling. Lipoblasts tend to be small and often monovacuolated and to cluster around vessels or at the periphery of the lesion. ","keywords":null},{"identifier":"Myotonia SCN4A-related.","acronym":"MYOSCN4A.","accession":"DI-00796","synonyms":"Myotonia congenita acetazolamide-responsive.; Myotonia congenita atypical.; Myotonia fluctuans.; Myotonia permanens.; Myotonia potassium-aggravated.; SCM.; Sodium channel muscle disease.; ","cross_references":"MeSH; D020967.","definition":"A phenotypically highly variable myotonia aggravated by potassium loading, and sometimes by cold. Myotonia is characterized by sustained muscle tensing that prevents muscles from relaxing normally. It causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. Myotonia SCN4A-related includes myotonia permanens and myotonia fluctuans. In myotonia permanens, the myotonia is generalized and there is a hypertrophy of the muscle, particularly in the neck and the shoulder. Attacks of severe muscle stiffness of the thoracic muscles may be life threatening due to impaired ventilation. In myotonia fluctuans, the muscle stiffness may fluctuate from day to day, provoked by exercise. ","keywords":null},{"identifier":"Myotonia congenita, autosomal recessive.","acronym":"MCAR.","accession":"DI-01247","synonyms":"Becker disease.; Generalized myotonia.; ","cross_references":"MeSH; D009224.","definition":"A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease). ","keywords":null},{"identifier":"Myotonia congenita, autosomal dominant.","acronym":"MCAD.","accession":"DI-01216","synonyms":"Myotonia levior.; THD.; Thomsen disease.; ","cross_references":"MeSH; D009224.","definition":"A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior). ","keywords":null},{"identifier":"Myosclerosis autosomal recessive.","acronym":"MYOSAR.","accession":"DI-01246","synonyms":"Congenital myosclerosis of Lowenthal.; Myosclerotic myopathy.; ","cross_references":"MeSH; D003286.","definition":"A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures. ","keywords":null},{"identifier":"Myopia, high, with cataract and vitreoretinal degeneration.","acronym":"MCVD.","accession":"DI-03289","synonyms":null,"cross_references":"MeSH; D009216.","definition":"A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment. ","keywords":null},{"identifier":"Myopia 6.","acronym":"MYP6.","accession":"DI-03792","synonyms":null,"cross_references":"MeSH; D009216.","definition":"A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. ","keywords":null},{"identifier":"Myopia 28, autosomal recessive.","acronym":"MYP28.","accession":"DI-06357","synonyms":null,"cross_references":"MeSH; D009216.","definition":"A form of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. MYP28 patients are affected by early-onset high myopia in the first decade of life. Retinal detachment may occur, and early-onset cataract has been reported. ","keywords":null},{"identifier":"Myopia 27, autosomal dominant.","acronym":"MYP27.","accession":"DI-05775","synonyms":null,"cross_references":"MeSH; D009216.","definition":"A form of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. MYP27 patients are affected by early-onset high myopia with increased axial lengths. Fundus changes include optic nerve head crescent and tigroid appearance of the posterior retina. ","keywords":null},{"identifier":"Myopia 26, X-linked, female-limited.","acronym":"MYP26.","accession":"DI-05150","synonyms":null,"cross_references":"MeSH; D009216.","definition":"A form of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. MYP26 is characterized by typical tigroid fundus changes commonly seen in early onset high myopia, and an unusual pattern of X-linked female-limited inheritance. ","keywords":null},{"identifier":"Myopia 25, autosomal dominant.","acronym":"MYP25.","accession":"DI-04910","synonyms":null,"cross_references":"MeSH; D009216.","definition":"A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. ","keywords":null},{"identifier":"Myopia 24, autosomal dominant.","acronym":"MYP24.","accession":"DI-04185","synonyms":null,"cross_references":"MeSH; D009216.","definition":"A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. ","keywords":null},{"identifier":"Myopia 23, autosomal recessive.","acronym":"MYP23.","accession":"DI-03893","synonyms":null,"cross_references":"MeSH; D009216.","definition":"A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. ","keywords":null},{"identifier":"Myopia 22, autosomal dominant.","acronym":"MYP22.","accession":"DI-03878","synonyms":null,"cross_references":"MeSH; D009216.","definition":"A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. ","keywords":null},{"identifier":"Myopia 21, autosomal dominant.","acronym":"MYP21.","accession":"DI-03177","synonyms":null,"cross_references":"MeSH; D009216.","definition":"A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. ","keywords":null},{"identifier":"Myopathy, X-linked, with postural muscle atrophy.","acronym":"XMPMA.","accession":"DI-02455","synonyms":null,"cross_references":"MeSH; D009136.","definition":"A progressive muscular dystrophy with onset in adulthood. Affected individuals develop a proximal myopathy characterized by specific atrophy of postural muscles, limited neck flexion, bent spine, contractures of the Achilles tendon, respiratory problems, and cardiomyopathy. Patients may show muscle hypertrophy in the early stages of the disorder. ","keywords":null},{"identifier":"Myopathy, X-linked, with excessive autophagy.","acronym":"MEAX.","accession":"DI-02454","synonyms":"XMEA.; ","cross_references":"MeSH; D009135.","definition":"A muscle disorder characterized by childhood early onset of a slowly progressive proximal limb muscle weakness (especially in legs) and elevation of serum creatine kinase, without evidence of cardiac, respiratory or central nervous system involvement. Histopathological analysis reveals diseased muscle fibers that are not necrotic, but show abnormal autophagic vacuolation as a manifestation of excessive autophagic activity in skeletal muscle cells. ","keywords":null},{"identifier":"Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant.","acronym":"MRUPAV.","accession":"DI-06732","synonyms":"Vacuolar Neuromyopathy.; ","cross_references":"MeSH; D009136.","definition":"An autosomal dominant, slowly progressive myopathy characterized by skeletal muscle weakness variably affecting the distal or proximal lower limbs. Some patients may also have upper limb involvement or neck muscle weakness. Skeletal muscle biopsy shows distinctive myopathic features including rimmed ubiquitin-positive autophagic vacuolation and abnormal subsarcolemmal protein aggregation. ","keywords":null},{"identifier":"Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis.","acronym":"MMCKR.","accession":"DI-06552","synonyms":null,"cross_references":"MeSH; D009135.","definition":"An autosomal recessive muscular disorder characterized by mild muscle weakness, early fatigue after mild to moderate physical exertion, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and elevated serum creatine kinase levels. Rarely, affected individuals may demonstrate cardiac involvement, including left ventricular dysfunction or rhythm abnormalities. ","keywords":null},{"identifier":"Myopathy with lactic acidosis and sideroblastic anemia 2.","acronym":"MLASA2.","accession":"DI-02902","synonyms":null,"cross_references":"MeSH; D000756.","definition":"A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest sideroblastic anemia, progressive lethargy, muscle weakness, and exercise intolerance associated with persistent lactic acidemia. ","keywords":"KW-1274:Primary mitochondrial disease.; "}]}