{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2560&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2520&ordering=synonyms","results":[{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 7.","acronym":"LGMDR7.","accession":"DI-00664","synonyms":"LGMD2G.; Limb-girdle muscular dystrophy 2G.; Muscular dystrophy, limb-girdle, type 2G.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 8.","acronym":"LGMDR8.","accession":"DI-00665","synonyms":"LGMD2H.; Limb-girdle muscular dystrophy 2H.; Muscular dystrophy, limb-girdle, type 2H.; Muscular dystrophy Hutterite type.; Sarcotubular myopathy.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by pelvic girdle, shoulder girdle and quadriceps muscle weakness. Clinical phenotype and severity are highly variable. Disease progression is slow and most patients remain ambulatory into the sixth decade of life. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C5.","acronym":"MDDGC5.","accession":"DI-00666","synonyms":"LGMD2I.; LGMDR9.; Limb-girdle muscular dystrophy type 2I.; Muscular dystrophy, limb-girdle, autosomal recessive 9.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.; Muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha- dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 10.","acronym":"LGMDR10.","accession":"DI-00667","synonyms":"LGMD2J.; Limb-girdle muscular dystrophy 2J.; Muscular dystrophy, limb-girdle, type 2J.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C1.","acronym":"MDDGC1.","accession":"DI-00668","synonyms":"LGMD2K.; LGMDR11.; Limb-girdle muscular dystrophy type 2K.; Muscular dystrophy, limb-girdle, autosomal recessive 11.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy associated with mild intellectual disability without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 12.","acronym":"LGMDR12.","accession":"DI-02703","synonyms":"LGMD2L.; Limb-girdle muscular dystrophy 2L.; Muscular dystrophy, limb-girdle, type 2L.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C4.","acronym":"MDDGC4.","accession":"DI-00669","synonyms":"LGMD2M.; LGMDR13.; Limb-girdle muscular dystrophy type 2M.; MDGD4C.; Muscular dystrophy, limb-girdle, autosomal recessive 13.; Muscular dystrophy due to defective glycosylation of dystroglycan 4C.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles, and elevated serum creatine kinase. MDDGC4 has no brain involvement and a remarkable clinical response to corticosteroids. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C2.","acronym":"MDDGC2.","accession":"DI-02956","synonyms":"LGMD2N.; LGMDR14.; Limb-girdle muscular dystrophy type 2N.; MDGD2C.; Muscular dystrophy, limb-girdle, autosomal recessive 14.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2.; Muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha- dystroglycan. Cognition is normal. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C9.","acronym":"MDDGC9.","accession":"DI-03074","synonyms":"LGMD2P.; LGMDR16.; Muscular dystrophy, limb-girdle, autosomal recessive 16.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9.; Muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related.; Muscular dystrophy limb-girdle type 2P.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive muscular dystrophy showing onset in early childhood, and associated with intellectual disability without structural brain anomalies. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 17.","acronym":"LGMDR17.","accession":"DI-03000","synonyms":"LGMD2Q.; Limb-girdle muscular dystrophy 2Q.; Muscular dystrophy, limb-girdle, type 2Q.; ","cross_references":"MeSH; D049288.","definition":"A form of limb-girdle muscular dystrophy characterized by early childhood onset of proximal muscle weakness. Limb-girdle muscular dystrophies are characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 18.","acronym":"LGMDR18.","accession":"DI-03850","synonyms":"LGMD2S.; Limb-girdle muscular dystrophy 2S.; Muscular dystrophy, limb-girdle, type 2S.; ","cross_references":"MeSH; D049288.","definition":"A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C14.","acronym":"MDDGC14.","accession":"DI-03848","synonyms":"LGMD2T.; LGMDR19.; Muscular dystrophy, limb-girdle, autosomal recessive 19.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14.; Muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related.; Muscular dystrophy limb-girdle type 2T.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C7.","acronym":"MDDGC7.","accession":"DI-04245","synonyms":"LGMD2U.; LGMDR20.; Muscular dystrophy, limb-girdle, autosomal recessive 20.; Muscular dystrophy, limb-girdle, type 2U.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7.; ","cross_references":"MeSH; D049288.","definition":"A form of muscular dystrophy resulting from defective glycosylation of alpha-dystroglycan, and characterized by a limb-girdle phenotype with muscular weakness apparent after ambulation is achieved. MDDGC7 individuals do not show epilepsy, intellectual disability, structural eye/brain abnormalities, or white matter changes. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue.","acronym":"MDRCMTT.","accession":"DI-04660","synonyms":"LGMD2W.; Limb-girdle muscular dystrophy 2W.; Muscular dystrophy, limb-girdle, type 2W.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive muscular dystrophy characterized by childhood- onset of muscle weakness progressing to a severe quadriparesis. Additionally, patients have biventricular cardiac dysfunction due to dilated cardiomyopathy, and macroglossia with a small tip resulting in a triangular tongue. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Myopathy, autosomal recessive, with rigid spine and distal joint contractures.","acronym":"MRRSDC.","accession":"DI-04804","synonyms":"LGMD2Y.; Limb-girdle muscular dystrophy 2Y.; Muscular dystrophy, limb-girdle, type 2Y.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. Cardiac involvement has been observed in some patients. Disease onset is in the first or second decades of life. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 21.","acronym":"LGMDR21.","accession":"DI-04915","synonyms":"LGMD2Z.; Limb-girdle muscular dystrophy 2Z.; Muscular dystrophy, limb-girdle, type 2Z.; ","cross_references":"MeSH; D049288.","definition":"A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMDR21 is characterized by young-adult onset. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C3.","acronym":"MDDGC3.","accession":"DI-02957","synonyms":"LGMDR15.; Muscular dystrophy, limb-girdle, autosomal recessive 15.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3.; Muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related.; ","cross_references":"MeSH; D049288.","definition":"A rare form of limb-girdle muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for glycosylated alpha-dystroglycan. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Ullrich congenital muscular dystrophy 1A.","acronym":"UCMD1A.","accession":"DI-01110","synonyms":"LGMDR22.; Muscular dystrophy, limb-girdle, autosomal recessive 22.; Scleroatonic muscular dystrophy.; UCMD.; Ullrich congenital muscular dystrophy.; Ullrich disease.; Ullrich scleroatonic muscular dystrophy.; ","cross_references":"MeSH; D009136.","definition":"A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. Inheritance can be autosomal dominant or autosomal recessive. ","keywords":"KW-0912:Congenital muscular dystrophy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy limb-girdle C8.","acronym":"MDDGC8.","accession":"DI-05342","synonyms":"LGMDR24.; Muscular dystrophy, limb-girdle, autosomal recessive 24.; Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive muscular disease with onset in childhood, characterized by limb-girdle muscular dystrophy and intellectual disability without brain malformation. Disease severity is highly variable and some patients may be clinically asymptomatic. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Bone fragility with contractures, arterial rupture, and deafness.","acronym":"BCARD.","accession":"DI-01923","synonyms":"LH3 deficiency.; Lysyl hydroxylase 3 deficiency.; ","cross_references":"MeSH; D003240.","definition":"An autosomal recessive connective tissue disorder, secondary to lysyl hydroxylase 3 deficiency. It is characterized by congenital malformations severely affecting multiple tissues and organs. Clinical features include growth retardation, craniofacial dysmorphism, popliteal and cerebral aneurysm, cerebral arterial hemorrhage, skin blistering and easy bruisability, and osteopenia. ","keywords":null}]}