{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2280&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2240&ordering=-identifier","results":[{"identifier":"Myelodysplastic syndrome.","acronym":"MDS.","accession":"DI-03291","synonyms":null,"cross_references":"MeSH; D009190.","definition":"A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML). ","keywords":null},{"identifier":"Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency.","acronym":"CMS9.","accession":"DI-04400","synonyms":null,"cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS9 is a disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 8.","acronym":"CMS8.","accession":"DI-04109","synonyms":"CMSPPD.; Congenital myasthenic syndrome due to agrin deficiency.; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects.; Myasthenic syndrome, congenital, with pre- and postsynaptic defects.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS8 is an autosomal recessive disease characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive.","acronym":"CMS7B.","accession":"DI-06179","synonyms":null,"cross_references":"MeSH; D020294.","definition":"An autosomal recessive form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS7B is characterized by defects at the pre-synaptic neuromuscular junction and severe generalized muscle weakness apparent from birth. Decreased fetal movements may be apparent in utero. Affected infants have generalized hypotonia, head lag, and facial muscle weakness with ptosis. Some patients may have respiratory involvement. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant.","acronym":"CMS7A.","accession":"DI-04255","synonyms":"Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy.; MYSPC.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS7A is an autosomal dominant, presynaptic disorder resembling Lambert-Eaton myasthenic syndrome. Affected individuals have a variable degree of proximal and distal limb weakness, muscle fatigue that improves with rest, mild gait difficulties, and reduced or absent deep tendon reflexes. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 6, presynaptic.","acronym":"CMS6.","accession":"DI-00370","synonyms":"CMS1A.; CMSEA.; CMS-EA.; CMS Ia.; Congenital myasthenic syndrome pre-synaptic associated with episodic apnea.; Congenital myasthenic syndrome type 1a.; Congenital myasthenic syndrome type Ia.; Familial infantile myasthenia gravis 2.; FIMG2.; Myasthenic syndrome, congenital, associated with episodic apnea.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS6 affected individuals have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. CMS6 inheritance is autosomal recessive. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 5.","acronym":"CMS5.","accession":"DI-00366","synonyms":"CMS1C.; CMSE.; CMS Ic.; Congenital myasthenic syndrome type 1c.; Congenital myasthenic syndrome type Ic.; EAD.; Endplate acetylcholinesterase deficiency.; End-plate acetylcholinesterase deficiency.; Engel congenital myasthenic syndrome.; Myasthenic syndrome, congenital, Engel type.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS5 inheritance is autosomal recessive. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.","acronym":"CMS4C.","accession":"DI-00369","synonyms":"CMS1D.; CMS1E.; CMS-ACHRD.; CMS Id.; CMS Ie.; Congenital myasthenic syndrome post-synaptic associated with acetylcholine receptor deficiency.; Congenital myasthenic syndrome type 1d.; Congenital myasthenic syndrome type 1e.; Congenital myasthenic syndrome type Id.; Congenital myasthenic syndrome type Ie.; Congenital myasthenic syndrome with facial dysmorphism associated with acetylcholine receptor deficiency.; FIM1.; Myasthenia, familial infantile, 1.; Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 4B, fast-channel.","acronym":"CMS4B.","accession":"DI-04396","synonyms":null,"cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 4A, slow-channel.","acronym":"CMS4A.","accession":"DI-04397","synonyms":"CMS1A1.; CMS Ia1.; Congenital myasthenic syndrome type Ia1.; Myasthenia, familial infantile, 1.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency.","acronym":"CMS3C.","accession":"DI-04399","synonyms":null,"cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 3B, fast-channel.","acronym":"CMS3B.","accession":"DI-04395","synonyms":null,"cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 3A, slow-channel.","acronym":"CMS3A.","accession":"DI-04394","synonyms":null,"cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency.","acronym":"CMS2C.","accession":"DI-04398","synonyms":null,"cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. CMS2C is clinically characterized by early-onset muscle weakness with variable severity. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 2A, slow-channel.","acronym":"CMS2A.","accession":"DI-04393","synonyms":null,"cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 25, presynaptic.","acronym":"CMS25.","accession":"DI-05479","synonyms":null,"cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS25 is an autosomal recessive form characterized by hypotonia and generalized muscle weakness apparent from birth. Affected individuals have feeding difficulties and delayed motor development, usually never achieving independent ambulation. Additional variable features include eye movement abnormalities, joint contractures, and rigid spine. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 24, presynaptic.","acronym":"CMS24.","accession":"DI-05394","synonyms":null,"cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS24 inheritance is autosomal recessive. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 23, presynaptic.","acronym":"CMS23.","accession":"DI-05393","synonyms":null,"cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS23 inheritance is autosomal recessive. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 22.","acronym":"CMS22.","accession":"DI-04963","synonyms":"PREPL deficiency.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS22 is an autosomal recessive form characterized by neonatal hypotonia. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 21, presynaptic.","acronym":"CMS21.","accession":"DI-04909","synonyms":null,"cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS21 is an autosomal recessive, pre-synaptic form characterized by ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water. Learning difficulties and left ventricular dysfunction may be present in some patients. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "}]}