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"count": 6723,
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"results": [
{
"identifier": "Developmental and epileptic encephalopathy 113.",
"acronym": "DEE113.",
"accession": "DI-06871",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE113 is an autosomal recessive form characterized by severe early-onset recurrent epilepsy. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Caudal duplication anomaly.",
"acronym": "CADUA.",
"accession": "DI-02877",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A condition characterized by the occurrence of duplications of different organs in the caudal region. ",
"keywords": null
},
{
"identifier": "Atrioventricular septal defect 5.",
"acronym": "AVSD5.",
"accession": "DI-03369",
"synonyms": null,
"cross_references": "MeSH; D004694.",
"definition": "A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ",
"keywords": null
},
{
"identifier": "Atrioventricular septal defect 4.",
"acronym": "AVSD4.",
"accession": "DI-03332",
"synonyms": null,
"cross_references": "MeSH; D004694.",
"definition": "A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ",
"keywords": null
},
{
"identifier": "Leber congenital amaurosis 18.",
"acronym": "LCA18.",
"accession": "DI-04324",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or almost absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
"keywords": "KW-0901:Leber congenital amaurosis.; "
},
{
"identifier": "Leber congenital amaurosis 17.",
"acronym": "LCA17.",
"accession": "DI-03831",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or almost absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
"keywords": "KW-0901:Leber congenital amaurosis.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 112.",
"acronym": "DEE112.",
"accession": "DI-06775",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE112 is an autosomal dominant form characterized by onset in infancy, and a wide range of seizure types including focal and generalized seizures. Cognitive outcomes range from normal intellect to profound intellectual development impairment. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Leber congenital amaurosis 13.",
"acronym": "LCA13.",
"accession": "DI-00639",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
"keywords": "KW-0901:Leber congenital amaurosis.; "
},
{
"identifier": "Leber congenital amaurosis 12.",
"acronym": "LCA12.",
"accession": "DI-00638",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
"keywords": "KW-0901:Leber congenital amaurosis.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 111.",
"acronym": "DEE111.",
"accession": "DI-06760",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE111 is an autosomal recessive form characterized by the onset of seizures in the first days, months, or years of life. Brain imaging shows frontal, parietal, and perisylvian polymicrogyria, dysmorphic basal ganglia and corpus callosum, and hypoplastic pons. Death in early childhood may occur. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Leber congenital amaurosis 11.",
"acronym": "LCA11.",
"accession": "DI-03048",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
"keywords": "KW-0901:Leber congenital amaurosis.; "
},
{
"identifier": "Leber congenital amaurosis 10.",
"acronym": "LCA10.",
"accession": "DI-00637",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
"keywords": "KW-0901:Leber congenital amaurosis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 110.",
"acronym": "DEE110.",
"accession": "DI-06558",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE110 is an autosomal recessive form characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cataracts, spastic paraparesis, and speech delay.",
"acronym": "CSPSD.",
"accession": "DI-06115",
"synonyms": null,
"cross_references": "MeSH; D009461.",
"definition": "An autosomal dominant disease characterized by bilateral cataracts apparent at birth or in infancy, spastic paraparesis, truncal hypotonia, delayed psychomotor development, and speech delay. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Lathosterolosis.",
"acronym": "LATHOS.",
"accession": "DI-01881",
"synonyms": null,
"cross_references": "MeSH; D043202.",
"definition": "An autosomal recessive disorder characterized by multiple congenital anomalies affecting axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. ",
"keywords": null
},
{
"identifier": "Long QT syndrome 9.",
"acronym": "LQT9.",
"accession": "DI-00686",
"synonyms": null,
"cross_references": "MeSH; D008133.",
"definition": "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. ",
"keywords": "KW-0454:Long QT syndrome.; "
},
{
"identifier": "Long-chain 3-hydroxyl-CoA dehydrogenase deficiency.",
"acronym": "LCHAD deficiency.",
"accession": "DI-01914",
"synonyms": null,
"cross_references": "MedGen; CN074230.",
"definition": "The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced. ",
"keywords": null
},
{
"identifier": "Late-onset retinal degeneration.",
"acronym": "LORD.",
"accession": "DI-01880",
"synonyms": null,
"cross_references": "MedGen; C1854065.",
"definition": "Autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy. ",
"keywords": null
},
{
"identifier": "Developmental and epileptic encephalopathy 109.",
"acronym": "DEE109.",
"accession": "DI-06557",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE109 is an autosomal dominant form characterized by the onset of various types of seizures in the first months or years of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Larsen syndrome.",
"acronym": "LRS.",
"accession": "DI-01214",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "An osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication. ",
"keywords": null
}
]
}