{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3880&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3840&ordering=-synonyms","results":[{"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, 18.","acronym":"CMS18.","accession":"DI-04403","synonyms":"Myasthenic syndrome, congenital, 18 with intellectual disability and ataxia.; ","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. CMS18 is an autosomal dominant presynaptic disorder clinically characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia. ","keywords":"KW-0991:Intellectual disability.; KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Marden-Walker syndrome.","acronym":"MWKS.","accession":"DI-04140","synonyms":"MWS.; ","cross_references":"MeSH; D054119.","definition":"A syndrome characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, kyphoscoliosis, pectus excavatum or carinatum, and arachnodactyly. Additional features include decreased muscular mass, failure to thrive, renal anomalies, hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna, and psychomotor retardation. ","keywords":null},{"identifier":"Mosaic variegated aneuploidy syndrome 1.","acronym":"MVA1.","accession":"DI-01994","synonyms":"MVA syndrome.; ","cross_references":"MeSH; D025063.","definition":"A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. ","keywords":null},{"identifier":"Olmsted syndrome, X-linked.","acronym":"OLMSX.","accession":"DI-04106","synonyms":"Mutilating palmoplantar keratoderma with periorificial keratotic plaques, X-linked.; PPKMX.; ","cross_references":"MeSH; D007645.","definition":"A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. ","keywords":"KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Olmsted syndrome 1.","acronym":"OLMS1.","accession":"DI-03430","synonyms":"Mutilating palmoplantar keratoderma with periorificial keratotic plaques.; ","cross_references":"MeSH; D007645.","definition":"An autosomal dominant, rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. ","keywords":"KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C12.","acronym":"MDDGC12.","accession":"DI-04274","synonyms":"Muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive limb-girdle congenital muscular dystrophy, characterized by muscle weakness and delayed motor development in association with cognitive impairment. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B15.","acronym":"MDDGB15.","accession":"DI-05900","synonyms":"Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15.; ","cross_references":"MeSH; D009136.","definition":"An autosomal recessive, congenital muscular disorder characterized by hyperCKemia, myopathic features observed on muscle biopsy, developmental delay, mildly impaired intellectual development with learning difficulties, epilepsy, and mild white matter abnormalities. ","keywords":"KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9.","acronym":"MDDGA9.","accession":"DI-04533","synonyms":"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9.; Walker-Warburg syndrome or muscle-eye brain disease, DAG1-related.; ","cross_references":"MeSH; D058494.","definition":"An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ","keywords":"KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14.","acronym":"MDDGA14.","accession":"DI-03846","synonyms":"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14.; Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related.; ","cross_references":"MeSH; D058494.","definition":"An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound intellectual disability. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction. ","keywords":"KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13.","acronym":"MDDGA13.","accession":"DI-03785","synonyms":"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13.; Walker-Warburg syndrome or muscle-eye-brain disease B3GNT1-related.; ","cross_references":"MeSH; D058494.","definition":"An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ","keywords":"KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12.","acronym":"MDDGA12.","accession":"DI-03721","synonyms":"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12.; Walker-Warburg syndrome or muscle-eye-brain disease POMK-related.; ","cross_references":"MeSH; D058494.","definition":"An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ","keywords":"KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11.","acronym":"MDDGA11.","accession":"DI-03747","synonyms":"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11.; Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related.; ","cross_references":"MeSH; D058494.","definition":"An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ","keywords":"KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy, congenital, megaconial type.","acronym":"MDCMC.","accession":"DI-05503","synonyms":"Muscular dystrophy, congenital, with mitochondrial structural abnormalities.; ","cross_references":"MeSH; D009136.","definition":"An autosomal recessive, congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, and dilated cardiomyopathy in half of affected individuals. Some patients may die from cardiomyopathy in the first or second decade of life. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center. ","keywords":"KW-0912:Congenital muscular dystrophy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2.","acronym":"MDDGB2.","accession":"DI-02955","synonyms":"Muscular dystrophy congenital POMT2-related.; ","cross_references":"MeSH; D009136.","definition":"An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. ","keywords":"KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1.","acronym":"MDDGB1.","accession":"DI-02963","synonyms":"Muscular dystrophy congenital POMT1-related.; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1.; ","cross_references":"MeSH; D009136.","definition":"An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. ","keywords":"KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3.","acronym":"MDDGB3.","accession":"DI-02961","synonyms":"Muscular dystrophy congenital POMGNT1-related.; ","cross_references":"MeSH; D009136.","definition":"An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. Clinical features include intellectual disability, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase. ","keywords":"KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4.","acronym":"MDDGB4.","accession":"DI-02728","synonyms":"Muscular dystrophy congenital FKTN-related.; ","cross_references":"MeSH; D009136.","definition":"An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI, and absence of intellectual disability. ","keywords":"KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Mulibrey nanism.","acronym":"MUL.","accession":"DI-02001","synonyms":"Muscle-liver-brain-eye nanism.; Perheentupa syndrome.; Pericardial constriction and growth failure.; ","cross_references":"MeSH; D050336.","definition":"An autosomal recessive growth disorder characterized by severe growth failure of prenatal onset, constrictive pericardium and progressive cardiomyopathy, facial dysmorphism, and failure of sexual maturation. Additional clinical features include hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, hypoplasia of various endocrine glands, insulin resistance with type 2 diabetes, and an increased risk for Wilms' tumor. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Muscle glycogen storage disease 0.","acronym":"GSD0b.","accession":"DI-02012","synonyms":"Muscle glycogen synthase deficiency.; ","cross_references":"MedGen; C1969054.","definition":"Metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood. The role of muscle glycogen is to provide critical energy during bursts of activity and sustained muscle work. ","keywords":null}]}