{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4480&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4440&ordering=identifier","results":[{"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, 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":"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":"Myelofibrosis.","acronym":"MYELOF.","accession":"DI-02746","synonyms":"Idiopathic myelofibrosis.; Myelosclerosis.; ","cross_references":"MeSH; D055728.","definition":"A disorder characterized by replacement of the bone marrow by fibrous tissue, occurring in association with a myeloproliferative disorder. Clinical manifestations may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension. ","keywords":null},{"identifier":"Myelofibrosis with myeloid metaplasia.","acronym":"MMM.","accession":"DI-03415","synonyms":"Agnogenic myeloid metaplasia.; Agnogenic myeloid metaplasia with myelofibrosis.; AMMM.; Myelosclerosis with myeloid metaplasia.; ","cross_references":"MeSH; D009191.","definition":"A chronic myeloproliferative disorder characterized by replacement of the bone marrow by fibrous tissue, extramedullary hematopoiesis, anemia, leukoerythroblastosis and hepatosplenomegaly. ","keywords":null},{"identifier":"Myeloperoxidase deficiency.","acronym":"MPOD.","accession":"DI-02016","synonyms":"MPO deficiency.; ","cross_references":"MeSH; D002177.","definition":"A disorder characterized by decreased myeloperoxidase activity in neutrophils and monocytes that results in disseminated candidiasis. ","keywords":null},{"identifier":"Myeloproliferative disorder chronic with eosinophilia.","acronym":"MPE.","accession":"DI-02609","synonyms":"Malignant proliferation of eosinophils.; ","cross_references":"MedGen; C1851585.","definition":"A hematologic disorder characterized by malignant eosinophils proliferation. ","keywords":null},{"identifier":"Myeloproliferative/lymphoproliferative neoplasms, familial.","acronym":"MPLPF.","accession":"DI-04687","synonyms":"Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types).; ","cross_references":"MeSH; D054437.","definition":"A familial cancer predisposition syndrome with incomplete penetrance, characterized by increased susceptibility to myeloid neoplasms and rarely to lymphoid malignancies. MPLPF inheritance is autosomal dominant. ","keywords":null},{"identifier":"Myhre syndrome.","acronym":"MYHRS.","accession":"DI-03349","synonyms":"Growth-mental deficiency syndrome of Myhre.; LAPS syndrome.; Laryngotracheal stenosis, arthropathy, prognathism, and short stature.; ","cross_references":"MeSH; D008607.","definition":"An autosomal dominant syndrome characterized by pre- and postnatal growth deficiency, intellectual disability, generalized muscle hypertrophy and striking muscular build, decreased joint mobility, cryptorchidism, and unusual facies. Dysmorphic facial features include microcephaly, midface hypoplasia, prognathism, and blepharophimosis. Typical skeletal anomalies are short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria. Other features, such as congenital heart disease, may also occur. ","keywords":null},{"identifier":"Myocardial infarction 1.","acronym":"MCI1.","accession":"DI-02017","synonyms":"Premature myocardial infarction.; ","cross_references":"MeSH; D009203.","definition":"A condition defined by the irreversible necrosis of heart muscle secondary to prolonged ischemia. ","keywords":null},{"identifier":"Myoclonic-atonic epilepsy.","acronym":"MAE.","accession":"DI-04457","synonyms":null,"cross_references":"MeSH; D004832.","definition":"A form of epilepsy characterized by myoclonic-atonic and absence seizures, appearing in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Myoclonic epilepsy of lafora 1.","acronym":"MELF1.","accession":"DI-00954","synonyms":"Epilepsy, progressive myoclonic 2A.; EPM2.; EPM2A.; Lafora's disease.; Lafora disease.; LD.; MELF.; Myoclonic epilepsy of Lafora.; Progressive myoclonic epilepsy 2.; Progressive myoclonic epilepsy 2A.; Progressive myoclonic epilepsy Lafora type.; ","cross_references":"MeSH; D020192.","definition":"A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. MELF1 is an autosomal recessive, severe form characterized by onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, myoclonic jerks, generalized seizures, and often visual hallucination. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. At the cellular level, MELF1 is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. ","keywords":"KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "},{"identifier":"Myoclonic epilepsy of Lafora 2.","acronym":"MELF2.","accession":"DI-06802","synonyms":null,"cross_references":"MeSH; D020192.","definition":"A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. MELF2 is an autosomal recessive, severe form characterized by onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, myoclonic jerks, generalized seizures, and often visual hallucination. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. At the cellular level, MELF2 is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. ","keywords":"KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "},{"identifier":"Myoclonus, familial, 1.","acronym":"MYOCL1.","accession":"DI-03616","synonyms":"FCM.; Myoclonus, familial cortical.; ","cross_references":"MeSH; D009207.","definition":"An autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness. ","keywords":null},{"identifier":"Myoclonus, familial, 2.","acronym":"MYOCL2.","accession":"DI-05513","synonyms":null,"cross_references":"MeSH; D009207.","definition":"An autosomal dominant neurologic disorder characterized by upper limb isolated myoclonus without seizures or cognitive impairment. MYOCL2 is a non-progressive disease with onset in the first decade of life. ","keywords":null},{"identifier":"Myoclonus, intractable, neonatal.","acronym":"NEIMY.","accession":"DI-04913","synonyms":null,"cross_references":"MeSH; D004831.","definition":"An autosomal dominant neurologic disorder characterized by severe, infantile-onset myoclonic seizures, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Myoectodermal gonadal dysgenesis syndrome.","acronym":"MEGD.","accession":"DI-05558","synonyms":"Brosnan-Kennerknecht-Guran-Koc syndrome BKGK.; GDRM.; Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.; ","cross_references":"MeSH; D058499.","definition":"An autosomal recessive disorder characterized by 46,XY complete gonadal dysgenesis and extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and cone dystrophy, anal atresia, omphalocele, sensorineural hearing loss, dry and scaly skin, skeletal abnormalities, renal agenesis and neuromotor delay. ","keywords":"KW-0182:Cone-rod dystrophy.; KW-0209:Deafness.; "},{"identifier":"Myofibromatosis, infantile 1.","acronym":"IMF1.","accession":"DI-03815","synonyms":"CGF.; Congenital generalized fibromatosis.; Juvenile myofibromatosis.; ","cross_references":"MeSH; D018224.","definition":"A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality. ","keywords":null},{"identifier":"Myofibromatosis, infantile 2.","acronym":"IMF2.","accession":"DI-03816","synonyms":null,"cross_references":"MeSH; D018224.","definition":"A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality. ","keywords":null},{"identifier":"Myoglobinuria, acute recurrent, autosomal recessive.","acronym":"ARARM.","accession":"DI-01227","synonyms":"Acute recurrent rhabdomyolysis.; Familial paroxysmal paralytic myoglobinuria.; ","cross_references":"MeSH; D009212.","definition":"Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. ","keywords":null}]}