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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4540",
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"results": [
{
"identifier": "Myopathy with exercise intolerance Swedish type.",
"acronym": "MEIS.",
"accession": "DI-02019",
"synonyms": "Hereditary myopathy with lactic acidosis.; HML.; Myoglobinuria due to abnormal glycolysis.; Myopathy with deficiency of succinate dehydrogenase and aconitase.; ",
"cross_references": "MedGen; C1850718.",
"definition": "Autosomal recessive metabolic disease characterized by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, and cardiac palpitations in association with lactic acidosis. The biochemical phenotype is characterized by a deficiency in mitochondrial iron-sulfur proteins and impaired muscle oxidative metabolism. ",
"keywords": null
},
{
"identifier": "Myopathy with extrapyramidal signs.",
"acronym": "MPXPS.",
"accession": "DI-04058",
"synonyms": null,
"cross_references": "MeSH; D009135.",
"definition": "An autosomal recessive disorder characterized by early-onset proximal muscle weakness with a static course and moderately to grossly elevated serum creatine kinase levels accompanied by learning difficulties. Most patients develop subtle extrapyramidal motor signs that progress to a debilitating disorder of involuntary movement with variable features, including chorea, tremor, dystonic posturing and orofacial dyskinesia. Additional variable features include ataxia, microcephaly, ophthalmoplegia, ptosis, optic atrophy and axonal peripheral neuropathy. ",
"keywords": null
},
{
"identifier": "Myopathy with lactic acidosis and sideroblastic anemia 1.",
"acronym": "MLASA1.",
"accession": "DI-02020",
"synonyms": "Mitochondrial myopathy and sideroblastic anemia.; ",
"cross_references": "MeSH; D000756.",
"definition": "A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Myopathy with lactic acidosis and sideroblastic anemia 2.",
"acronym": "MLASA2.",
"accession": "DI-02902",
"synonyms": null,
"cross_references": "MeSH; D000756.",
"definition": "A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest sideroblastic anemia, progressive lethargy, muscle weakness, and exercise intolerance associated with persistent lactic acidemia. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis.",
"acronym": "MMCKR.",
"accession": "DI-06552",
"synonyms": null,
"cross_references": "MeSH; D009135.",
"definition": "An autosomal recessive muscular disorder characterized by mild muscle weakness, early fatigue after mild to moderate physical exertion, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and elevated serum creatine kinase levels. Rarely, affected individuals may demonstrate cardiac involvement, including left ventricular dysfunction or rhythm abnormalities. ",
"keywords": null
},
{
"identifier": "Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant.",
"acronym": "MRUPAV.",
"accession": "DI-06732",
"synonyms": "Vacuolar Neuromyopathy.; ",
"cross_references": "MeSH; D009136.",
"definition": "An autosomal dominant, slowly progressive myopathy characterized by skeletal muscle weakness variably affecting the distal or proximal lower limbs. Some patients may also have upper limb involvement or neck muscle weakness. Skeletal muscle biopsy shows distinctive myopathic features including rimmed ubiquitin-positive autophagic vacuolation and abnormal subsarcolemmal protein aggregation. ",
"keywords": null
},
{
"identifier": "Myopathy, X-linked, with excessive autophagy.",
"acronym": "MEAX.",
"accession": "DI-02454",
"synonyms": "XMEA.; ",
"cross_references": "MeSH; D009135.",
"definition": "A muscle disorder characterized by childhood early onset of a slowly progressive proximal limb muscle weakness (especially in legs) and elevation of serum creatine kinase, without evidence of cardiac, respiratory or central nervous system involvement. Histopathological analysis reveals diseased muscle fibers that are not necrotic, but show abnormal autophagic vacuolation as a manifestation of excessive autophagic activity in skeletal muscle cells. ",
"keywords": null
},
{
"identifier": "Myopathy, X-linked, with postural muscle atrophy.",
"acronym": "XMPMA.",
"accession": "DI-02455",
"synonyms": null,
"cross_references": "MeSH; D009136.",
"definition": "A progressive muscular dystrophy with onset in adulthood. Affected individuals develop a proximal myopathy characterized by specific atrophy of postural muscles, limited neck flexion, bent spine, contractures of the Achilles tendon, respiratory problems, and cardiomyopathy. Patients may show muscle hypertrophy in the early stages of the disorder. ",
"keywords": null
},
{
"identifier": "Myopia 21, autosomal dominant.",
"acronym": "MYP21.",
"accession": "DI-03177",
"synonyms": null,
"cross_references": "MeSH; D009216.",
"definition": "A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. ",
"keywords": null
},
{
"identifier": "Myopia 22, autosomal dominant.",
"acronym": "MYP22.",
"accession": "DI-03878",
"synonyms": null,
"cross_references": "MeSH; D009216.",
"definition": "A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. ",
"keywords": null
},
{
"identifier": "Myopia 23, autosomal recessive.",
"acronym": "MYP23.",
"accession": "DI-03893",
"synonyms": null,
"cross_references": "MeSH; D009216.",
"definition": "A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. ",
"keywords": null
},
{
"identifier": "Myopia 24, autosomal dominant.",
"acronym": "MYP24.",
"accession": "DI-04185",
"synonyms": null,
"cross_references": "MeSH; D009216.",
"definition": "A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. ",
"keywords": null
},
{
"identifier": "Myopia 25, autosomal dominant.",
"acronym": "MYP25.",
"accession": "DI-04910",
"synonyms": null,
"cross_references": "MeSH; D009216.",
"definition": "A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. ",
"keywords": null
},
{
"identifier": "Myopia 26, X-linked, female-limited.",
"acronym": "MYP26.",
"accession": "DI-05150",
"synonyms": null,
"cross_references": "MeSH; D009216.",
"definition": "A form of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. MYP26 is characterized by typical tigroid fundus changes commonly seen in early onset high myopia, and an unusual pattern of X-linked female-limited inheritance. ",
"keywords": null
},
{
"identifier": "Myopia 27, autosomal dominant.",
"acronym": "MYP27.",
"accession": "DI-05775",
"synonyms": null,
"cross_references": "MeSH; D009216.",
"definition": "A form of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. MYP27 patients are affected by early-onset high myopia with increased axial lengths. Fundus changes include optic nerve head crescent and tigroid appearance of the posterior retina. ",
"keywords": null
},
{
"identifier": "Myopia 28, autosomal recessive.",
"acronym": "MYP28.",
"accession": "DI-06357",
"synonyms": null,
"cross_references": "MeSH; D009216.",
"definition": "A form of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. MYP28 patients are affected by early-onset high myopia in the first decade of life. Retinal detachment may occur, and early-onset cataract has been reported. ",
"keywords": null
},
{
"identifier": "Myopia 6.",
"acronym": "MYP6.",
"accession": "DI-03792",
"synonyms": null,
"cross_references": "MeSH; D009216.",
"definition": "A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. ",
"keywords": null
},
{
"identifier": "Myopia, high, with cataract and vitreoretinal degeneration.",
"acronym": "MCVD.",
"accession": "DI-03289",
"synonyms": null,
"cross_references": "MeSH; D009216.",
"definition": "A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment. ",
"keywords": null
},
{
"identifier": "Myosclerosis autosomal recessive.",
"acronym": "MYOSAR.",
"accession": "DI-01246",
"synonyms": "Congenital myosclerosis of Lowenthal.; Myosclerotic myopathy.; ",
"cross_references": "MeSH; D003286.",
"definition": "A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures. ",
"keywords": null
},
{
"identifier": "Myotonia congenita, autosomal dominant.",
"acronym": "MCAD.",
"accession": "DI-01216",
"synonyms": "Myotonia levior.; THD.; Thomsen disease.; ",
"cross_references": "MeSH; D009224.",
"definition": "A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior). ",
"keywords": null
}
]
}