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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1500",
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"results": [
{
"identifier": "Coronary heart disease 5.",
"acronym": "CHDS5.",
"accession": "DI-02840",
"synonyms": "Coronary artery disease early-onset.; ",
"cross_references": "MeSH; D003324.",
"definition": "A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. ",
"keywords": null
},
{
"identifier": "Coronary heart disease 6.",
"acronym": "CHDS6.",
"accession": "DI-03346",
"synonyms": null,
"cross_references": "MeSH; D003324.",
"definition": "A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. ",
"keywords": null
},
{
"identifier": "Coronary heart disease 7.",
"acronym": "CHDS7.",
"accession": "DI-02841",
"synonyms": null,
"cross_references": "MeSH; D003327.",
"definition": "A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 1.",
"acronym": "CDCBM1.",
"accession": "DI-03150",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe intellectual disability, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 10.",
"acronym": "CDCBM10.",
"accession": "DI-05688",
"synonyms": null,
"cross_references": "MeSH; D054220.",
"definition": "An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM10 is clinically characterized by onset in infancy of global developmental delay, impaired intellectual development, seizures, inability to ambulate, and absent language. Brain imaging shows lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. ",
"keywords": "KW-0451:Lissencephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 11.",
"acronym": "CDCBM11.",
"accession": "DI-06564",
"synonyms": null,
"cross_references": "MeSH; D054220.",
"definition": "An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM11 is characterized by dilated ventricles and reduced white matter, and is associated with axonal developmental defects. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 12.",
"acronym": "CDCBM12.",
"accession": "DI-06642",
"synonyms": null,
"cross_references": "MeSH; D054220.",
"definition": "An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM12 is characterized by severe to profound neurodevelopmental delay, microcephaly, cortical visual impairment, craniofacial dysmorphism, and seizures. Brain imaging shows lissencephaly, severe hypoplasia or absence of the corpus callosum, cerebellar hypodysplasia, and dysplasia of the basal ganglia, hippocampus and midbrain. ",
"keywords": "KW-0451:Lissencephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 13.",
"acronym": "CDCBM13.",
"accession": "DI-03425",
"synonyms": "Intellectual developmental disorder, autosomal dominant 13.; MRD13.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by global developmental delay with impaired intellectual development. Some patients show signs of peripheral neuropathy, such as abnormal gait and hyporeflexia. CDCBM13 is associated with variable neuronal migration defects resulting in cortical malformations. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal).",
"acronym": "CDCBM14A.",
"accession": "DI-01281",
"synonyms": "BFPP.; Cerebellar ataxia with neuronal migration defect.; Polymicrogyria, bilateral frontoparietal.; ",
"cross_references": "MeSH; D054220.",
"definition": "An autosomal recessive disorder characterized by global developmental delay with impaired intellectual development, motor delay, poor speech, cerebellar and pyramidal signs, truncal ataxia, and early- onset seizures. Brain imaging shows bilateral frontoparietal polymicrogyria, a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is considered to be the result of postmigratory abnormal cortical organization. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 14B (bilateral perisylvian).",
"acronym": "CDCBM14B.",
"accession": "DI-04104",
"synonyms": "BPPR.; PMGR.; Polymicrogyria, bilateral perisylvian, autosomal recessive.; ",
"cross_references": "MeSH; D054220.",
"definition": "An autosomal recessive disorder characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability. Polymicrogyria is a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. It is considered to be the result of postmigratory abnormal cortical organization. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 15.",
"acronym": "CDCBM15.",
"accession": "DI-05737",
"synonyms": "Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures.; PAMDDFS.; ",
"cross_references": "MeSH; D054082.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, variably impaired intellectual development, speech delay, facial dysmorphism, microcephaly, and varying degrees of cortical malformations including pachygyria, thin corpus callosum and subcortical band heterotopia. Most patients have generalized seizures. ",
"keywords": "KW-0451:Lissencephaly.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 2.",
"acronym": "CDCBM2.",
"accession": "DI-03883",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include intrauterine growth retardation, fetal akinesia, seizures, microcephaly, lack of psychomotor development, and arthrogryposis. Brain imaging shows malformations of cortical development, including polymicrogyria, gyral simplification, and thin corpus callosum. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 3.",
"acronym": "CDCBM3.",
"accession": "DI-03884",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset epilepsy, and various malformations of cortical development such as agyria, posterior or frontal pachygyria, subcortical band heterotopia, and thin corpus callosum. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 4.",
"acronym": "CDCBM4.",
"accession": "DI-03885",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset seizures, microcephaly, spastic tetraplegia, and various malformations of cortical development, such as agyria, posterior or frontal pachygyria, thick cortex, and subcortical band heterotopia and thin corpus callosum in some patients. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 5.",
"acronym": "CDCBM5.",
"accession": "DI-04097",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include seizures, global developmental delay, and various brain malformations such as a diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, thin and dysmorphic corpus callosum, mild brainstem hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and mildly enlarged posterior fossa. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 6.",
"acronym": "CDCBM6.",
"accession": "DI-04083",
"synonyms": null,
"cross_references": "MeSH; D054081.",
"definition": "A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have microcephaly, ataxia, and severe delayed psychomotor development. Brain imaging shows variable malformations of cortical development, including white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 7.",
"acronym": "CDCBM7.",
"accession": "DI-02622",
"synonyms": "PMGYSA.; Polymicrogyria, symmetric or asymmetric.; ",
"cross_references": "MeSH; D054220.",
"definition": "A malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 9.",
"acronym": "CDCBM9.",
"accession": "DI-05375",
"synonyms": null,
"cross_references": "MeSH; D054220.",
"definition": "An autosomal recessive disorder characterized by neurodevelopmental delay apparent from early infancy, acquired microcephaly, hypotonic cerebral palsy, inability to ambulate or speak, and intractable seizures. Brain imaging shows pachygyria with severe cortical gray matter thickening, paucity of gyri without an obvious posterior- anterior gradient or focal dysplasias, hypogenesis of the corpus callosum, and cerebellar hypoplasia. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Cortical dysplasia-focal epilepsy syndrome.",
"acronym": "CDFES.",
"accession": "DI-00381",
"synonyms": null,
"cross_references": "MeSH; D054220.",
"definition": "A disease characterized by cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures begin in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and intellectual disability develop. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Cortical malformations occipital.",
"acronym": "OCCM.",
"accession": "DI-03207",
"synonyms": null,
"cross_references": "MeSH; D054220.",
"definition": "A disease in which affected individuals develop seizures, sometimes associated with transient visual changes. Brain MRI shows both pachygyria and polymicrogyria restricted to the lateral occipital lobes. ",
"keywords": null
}
]
}