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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5360&ordering=-synonyms",
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"results": [
{
"identifier": "Spondylocostal dysostosis 1, autosomal recessive.",
"acronym": "SCDO1.",
"accession": "DI-01081",
"synonyms": "Costovertebral dysplasia.; Jarcho-Levin syndrome.; Spondylothoracic dysostosis.; Spondylothoracic dysplasia.; ",
"cross_references": "MeSH; D004413.",
"definition": "A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Glucocorticoid resistance.",
"acronym": "GCRES.",
"accession": "DI-01671",
"synonyms": "Cortisol resistance.; ",
"cross_references": "MedGen; C1841982.",
"definition": "Hypertensive, hyperandrogenic disorder characterized by increased serum cortisol concentrations. Inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Epilepsy, early-onset, 5, with or without developmental delay.",
"acronym": "EPEO5.",
"accession": "DI-03870",
"synonyms": "Cortical myoclonic tremor with epilepsy, familial, 5.; Epilepsy, familial adult myoclonic, 5.; FAME5.; Familial cortical myoclonic tremor with epilepsy 5.; FCMTE5.; ",
"cross_references": "MeSH; D004831.",
"definition": "An autosomal recessive neurologic disorder characterized by a combination of various seizure types with onset in the first decade of life or during adolescence. Most patients have developmental delay, impaired intellectual development, and behavioral abnormalities. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, familial adult myoclonic, 4.",
"acronym": "FAME4.",
"accession": "DI-05691",
"synonyms": "Cortical myoclonic tremor with epilepsy, familial, 4.; FCMTE4.; ",
"cross_references": "MeSH; D004831.",
"definition": "A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME4 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, familial adult myoclonic, 3.",
"acronym": "FAME3.",
"accession": "DI-05690",
"synonyms": "Cortical myoclonic tremor with epilepsy, familial, 3.; FCMTE3.; ",
"cross_references": "MeSH; D004831.",
"definition": "A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME3 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Dementia, Lewy body.",
"acronym": "DLB.",
"accession": "DI-01901",
"synonyms": "Cortical Lewy body disease.; Diffuse Lewy body disease.; Diffuse Lewy body disease with gaze palsy.; Dysphasic dementia hereditary.; Lewy body dementia.; Lewy body type senile dementia.; Lewy body variant of Alzheimer disease.; ",
"cross_references": "MeSH; D020961.",
"definition": "A neurodegenerative disorder characterized by mental impairment leading to dementia, parkinsonism, fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Brainstem or cortical intraneuronal accumulations of aggregated proteins (Lewy bodies) are the only essential pathologic features. Patients may also have hippocampal and neocortical senile plaques, sometimes in sufficient number to fulfill the diagnostic criteria for Alzheimer disease. ",
"keywords": "KW-0026:Alzheimer disease.; KW-0523:Neurodegeneration.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Sclerosteosis 1.",
"acronym": "SOST1.",
"accession": "DI-01007",
"synonyms": "Cortical hyperostosis with syndactyly.; Sclerosteosis.; SOST.; ",
"cross_references": "MeSH; D015576.",
"definition": "An autosomal recessive sclerosing bone dysplasia characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients. ",
"keywords": null
},
{
"identifier": "Tumoral calcinosis, hyperphosphatemic, familial, 1.",
"acronym": "HFTC1.",
"accession": "DI-00573",
"synonyms": "Cortical hyperostosis with hyperphosphatemia.; Familial tumoral calcinosis with hyperphosphatemia.; HHS.; Hyperostosis-hyperphosphatemia syndrome.; Hyperostosis with hyperphosphatemia.; Lipocalcinogranulomatosis.; Morbus Teutschlaender.; PHPTC.; Teutschlaender disease.; Tumoral calcinosis primary hyperphosphatemic.; ",
"cross_references": "MeSH; D054559.",
"definition": "A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. ",
"keywords": null
},
{
"identifier": "Cataract 33, multiple types.",
"acronym": "CTRCT33.",
"accession": "DI-01235",
"synonyms": "Cortical cataract 33.; Cortical juvenile-onset cataract.; ",
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT33 has juvenile-onset and the opacities are restricted to the cortex of the lens, not involving the nucleus. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "MASA syndrome.",
"acronym": "MASA.",
"accession": "DI-00707",
"synonyms": "Corpus callosum hypoplasia-psychomotor retardation, adducted thumbs-spastic paraparesis-hydrocephalus.; CRASH.; ",
"cross_references": "MeSH; D010264.",
"definition": "An X-linked recessive syndrome with a highly variable clinical spectrum. Main clinical features include spasticity and hyperreflexia of lower limbs, shuffling gait, intellectual disability, aphasia and adducted thumbs. The features of spasticity have been referred to as complicated spastic paraplegia type 1 (SPG1). Some patients manifest corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial variability is very wide, such that patients with hydrocephalus, MASA, SPG1, and agenesis of corpus callosum can be present within the same family. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Coronary artery disease, autosomal dominant, 1.",
"acronym": "ADCAD1.",
"accession": "DI-01202",
"synonyms": "Coronary artery disease with myocardial infarction.; ",
"cross_references": "MeSH; D003324.",
"definition": "A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction. ",
"keywords": null
},
{
"identifier": "Coronary artery disease.",
"acronym": "CAD.",
"accession": "DI-04956",
"synonyms": "Coronary artery disease, severe.; ",
"cross_references": "MeSH; D003324.",
"definition": "A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction. ",
"keywords": null
},
{
"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": "Cornelia de Lange syndrome 2.",
"acronym": "CDLS2.",
"accession": "DI-00380",
"synonyms": "Cornelia de Lange syndrome X-linked.; ",
"cross_references": "MeSH; D003635.",
"definition": "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cornea plana 2, autosomal recessive.",
"acronym": "CNA2.",
"accession": "DI-02364",
"synonyms": "Cornea plana congenita, recessive.; ",
"cross_references": "MeSH; D003316.",
"definition": "A severe form of cornea plana, a rare ocular disorder characterized by flattened corneal curvature leading to a decrease in refraction, reduced visual activity, hyperopia, hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis often detected at an early age. CNA2 patients manifest extreme hyperopia and additional ocular anomalies such as malformations of the iris, a slit-like pupil, and adhesions between iris and cornea. ",
"keywords": null
},
{
"identifier": "Brittle cornea syndrome 1.",
"acronym": "BCS1.",
"accession": "DI-00441",
"synonyms": "Corneal fragility keratoglobus blue sclerae joint hyperextensibility.; Dysgenesis mesodermalis corneae et sclerae.; EDS6B formerly.; Ehlers-Danlos syndrome type VIB formerly.; Fragilitas oculi with joint hyperextensibility.; ",
"cross_references": "MeSH; D004535.",
"definition": "A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. It shares some features with, but is much less severe than, the ocular form of Ehlers-Danlos syndrome (EDS6). ",
"keywords": null
},
{
"identifier": "Epithelial recurrent erosion dystrophy.",
"acronym": "ERED.",
"accession": "DI-04534",
"synonyms": "Corneal erosions, recurring hereditary.; RCES.; Recurrent corneal erosion syndrome.; ",
"cross_references": "MeSH; D003317.",
"definition": "A corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood, with occasional impairment of vision. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Exposure to sunlight or draught, dust and smoke and lack of sleep can precipitate attacks. ",
"keywords": null
},
{
"identifier": "Corneal dystrophy, Meesmann 1.",
"acronym": "MECD1.",
"accession": "DI-01959",
"synonyms": "Corneal dystrophy, Meesmann epithelial.; Juvenile epithelial corneal dystrophy of Meesmann.; MCD.; MECD.; Meesmann corneal dystrophy.; Meesmann epithelial corneal dystrophy.; ",
"cross_references": "MeSH; D053559.",
"definition": "A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris- laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD1 inheritance is autosomal dominant. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Macular dystrophy, corneal.",
"acronym": "MCD.",
"accession": "DI-01925",
"synonyms": "Corneal dystrophy macular type.; Groenouw type II corneal dystrophy.; Macular corneal dystrophy type I.; Macular corneal dystrophy type II.; MCDC1.; ",
"cross_references": "MeSH; D003317.",
"definition": "An ocular disease characterized by bilateral, progressive corneal opacification, and reduced corneal sensitivity. Onset occurs in the first decade, usually between ages 5 and 9. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. The disease is due to deposition of an unsulfated keratan sulfate both within the intracellular space (within the keratocytes and endothelial cells) and in the extracellular corneal stroma. Macular corneal dystrophy is divided into the clinically indistinguishable types I, IA, and II based on analysis of the normally sulfated, or antigenic, keratan sulfate levels in serum and immunohistochemical evaluation of the cornea. Patients with types I and IA macular corneal dystrophy have undetectable serum levels of antigenic keratan sulfate, whereas those with type II macular corneal dystrophy have normal or low levels, depending on the population examined. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, lattice type 1.",
"acronym": "CDL1.",
"accession": "DI-01428",
"synonyms": "Corneal dystrophy lattice type I.; Lattice corneal dystrophy type I.; LCD.; LCD1.; ",
"cross_references": "MeSH; D028226.",
"definition": "A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL1 is characterized by progressive visual impairment, and the presence of delicate, double-contoured, interdigitating, elongated deposits that form a reticular pattern in the corneal stroma. Systemic amyloidosis is absent. Recurrent corneal ulceration sometimes occurs. ",
"keywords": "KW-1008:Amyloidosis.; KW-1212:Corneal dystrophy.; "
}
]
}