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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4440",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4400",
"results": [
{
"identifier": "Muscular dystrophy, limb-girdle, autosomal recessive 25.",
"acronym": "LGMDR25.",
"accession": "DI-04650",
"synonyms": "Cardiac arrhythmia with increased serum creatine kinase.; CARICK.; LGMD2X.; Limb-girdle muscular dystrophy 2X.; Muscular dystrophy, limb-girdle, type 2X.; ",
"cross_references": "MeSH; D049288.",
"definition": "An autosomal recessive muscular disorder characterized by slowly progressive onset of proximal lower limb weakness in adulthood, syncopal episodes, and markedly increased serum creatine kinase, which can increase further after strenuous exercise. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; "
},
{
"identifier": "Muscular dystrophy, limb-girdle, autosomal recessive 26.",
"acronym": "LGMDR26.",
"accession": "DI-05816",
"synonyms": null,
"cross_references": "MeSH; D049288.",
"definition": "An autosomal recessive muscular disorder characterized by adult onset of weakness and atrophy of proximal limb muscles, elevated serum creatine kinase levels, and dystrophic findings on muscle biopsy. There is no cardiac or respiratory involvement. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; "
},
{
"identifier": "Muscular dystrophy, limb-girdle, autosomal recessive 27.",
"acronym": "LGMDR27.",
"accession": "DI-06247",
"synonyms": null,
"cross_references": "MeSH; D049288.",
"definition": "An autosomal recessive muscular disorder characterized by progressive muscle weakness most prominent in the proximal lower limb and axial muscles, and resulting in walking difficulty or loss of ambulation. Additional more variable features include neck muscle weakness, scoliosis, and joint contractures. Some affected individuals manifest impaired intellectual development or speech delay, cardiomyopathy, and cardiac arrhythmia. Muscle biopsy shows non-specific dystrophic changes. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; "
},
{
"identifier": "Muscular dystrophy, limb-girdle, autosomal recessive 28.",
"acronym": "LGMDR28.",
"accession": "DI-06687",
"synonyms": null,
"cross_references": "MeSH; D049288.",
"definition": "An autosomal recessive form of limb girdle muscular dystrophy, a group of genetically heterogeneous muscular disorders that share proximal muscle weakness as the major attribute. Most limb girdle muscular dystrophies present with elevated creatinine kinase and myopathic electromyographic features. Disease is usually progressive to a variable degree, ranging from minor disability to complete inability to ambulate, and can involve the large proximal muscles, as well as axial and facial muscles. Different disease forms may exhibit skeletal muscle hypertrophy, kyphoscoliosis, and contractures or involve other muscle groups and manifest with distal weakness, cardiomyopathy, dysphagia, and respiratory difficulties. LGMDR28 is characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs, and highly variable age at onset. Most patients have limited ambulation or become wheelchair-bound within a few decades, and respiratory insufficiency commonly occurs. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; "
},
{
"identifier": "Muscular dystrophy, limb-girdle, autosomal recessive 3.",
"acronym": "LGMDR3.",
"accession": "DI-00661",
"synonyms": "Adhalinopathy primary.; DMDA2.; Duchenne-like muscular dystrophy autosomal recessive type 2.; LGMD2D.; Limb-girdle muscular dystrophy 2D.; Muscular dystrophy, limb-girdle, type 2D.; SCARMD.; Severe childhood autosomal recessive muscular dystrophy.; ",
"cross_references": "MeSH; D049288.",
"definition": "An autosomal recessive degenerative myopathy characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; "
},
{
"identifier": "Muscular dystrophy, limb-girdle, autosomal recessive 4.",
"acronym": "LGMDR4.",
"accession": "DI-00662",
"synonyms": "LGMD2E.; Limb-girdle muscular dystrophy 2E.; Muscular dystrophy, limb-girdle, type 2E.; ",
"cross_references": "MeSH; D049288.",
"definition": "An autosomal recessive degenerative myopathy characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; "
},
{
"identifier": "Muscular dystrophy, limb-girdle, autosomal recessive 5.",
"acronym": "LGMDR5.",
"accession": "DI-00660",
"synonyms": "DMDA1.; Duchenne-like muscular dystrophy autosomal recessive type 1.; LGMD2C.; Limb-girdle muscular dystrophy 2C.; Muscular dystrophy, limb-girdle, type 2C.; Sarcoglycan gamma deficiency.; SCARMD.; Severe childhood autosomal recessive muscular dystrophy North African type.; ",
"cross_references": "MeSH; D049288.",
"definition": "An autosomal recessive degenerative myopathy characterized by rapidly progressive muscle wasting from early childhood with loss of independent ambulation around age 12 years, dystrophic pattern on muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin immunostaining. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; "
},
{
"identifier": "Muscular dystrophy, limb-girdle, autosomal recessive 6.",
"acronym": "LGMDR6.",
"accession": "DI-00663",
"synonyms": "LGMD2F.; Limb-girdle muscular dystrophy 2F.; Muscular dystrophy, limb-girdle, type 2F.; ",
"cross_references": "MeSH; D049288.",
"definition": "An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; "
},
{
"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": "Myasthenic syndrome, congenital, 10.",
"acronym": "CMS10.",
"accession": "DI-00494",
"synonyms": "CMS1B.; CMS Ib.; Congenital myasthenic syndrome type 1b.; Congenital myasthenic syndrome type Ib.; LGM.; Myasthenia, limb-girdle, familial.; Myasthenic myopathy.; ",
"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. CMS10 is an autosomal recessive, post-synaptic form characterized by a typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency.",
"acronym": "CMS11.",
"accession": "DI-04401",
"synonyms": "CMS1E.; CMS Ie.; Myasthenic syndrome, congenital, Ie.; ",
"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. CMS11 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, 12.",
"acronym": "CMS12.",
"accession": "DI-03084",
"synonyms": "CMSTA1.; Limb-girdle myasthenia with tubular aggregates.; Myasthenia, congenital, with tubular aggregates 1.; Myasthenic syndrome, congenital, with tubular aggregates, 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. CMS12 is characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 13.",
"acronym": "CMS13.",
"accession": "DI-03511",
"synonyms": "CMSTA2.; Myasthenic syndrome, congenital, with tubular aggregates, 2.; ",
"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. CMS13 is characterized by muscle weakness mostly affecting proximal limb muscles, minimal involvement of facial, ocular and bulbar muscles, and tubular aggregates present on muscle biopsy. Symptoms include difficulty walking and frequent falls. Younger patients show hypotonia and poor head control. Neurophysiological features indicate a disorder of neuromuscular transmission on electromyography. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 14.",
"acronym": "CMS14.",
"accession": "DI-04340",
"synonyms": "CMSTA3.; Myasthenic syndrome, congenital, 14, with tubular aggregates.; Myasthenic syndrome, congenital, with tubular aggregates, 3.; ",
"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. CMS14 is an autosomal recessive form characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 15.",
"acronym": "CMS15.",
"accession": "DI-04339",
"synonyms": "CMSWTA.; Myasthenic syndrome, congenital, 15, without tubular aggregates.; Myasthenic syndrome, congenital, without tubular aggregates.; ",
"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. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 16.",
"acronym": "CMS16.",
"accession": "DI-00365",
"synonyms": "Congenital myasthenic syndrome due to mutation in SCN4A.; Congenital myasthenic syndrome SCN4A-related.; Myasthenic syndrome, congenital, acetazolamide-responsive.; ",
"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. CMS16 is characterized by fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth. The fatigable weakness involves lid-elevator, external ocular, facial, limb and truncal muscles and an decremental response of the compound muscle action potential on repetitive stimulation. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 17.",
"acronym": "CMS17.",
"accession": "DI-04402",
"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. ",
"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": "Myasthenic syndrome, congenital, 19.",
"acronym": "CMS19.",
"accession": "DI-04604",
"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. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
}
]
}