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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3760&ordering=synonyms",
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"results": [
{
"identifier": "LEOPARD syndrome 2.",
"acronym": "LPRD2.",
"accession": "DI-01889",
"synonyms": null,
"cross_references": "MeSH; D044542.",
"definition": "A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "LEOPARD syndrome 1.",
"acronym": "LPRD1.",
"accession": "DI-01888",
"synonyms": null,
"cross_references": "MeSH; D044542.",
"definition": "A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Left-right axis malformations.",
"acronym": "LRAM.",
"accession": "DI-01883",
"synonyms": null,
"cross_references": "MedGen; C1866091.",
"definition": "The defect includes left pulmonary isomerism, with cardiac anomalies characterized by complete atrioventricular canal defect and hypoplastic left ventricle, and interrupted inferior vena cava. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Attention deficit-hyperactivity disorder 8.",
"acronym": "ADHD8.",
"accession": "DI-06470",
"synonyms": null,
"cross_references": "MeSH; D001289.",
"definition": "A form of attention deficit-hyperactivity disorder, a neurobehavioral developmental condition primarily characterized by the coexistence of attentional problems and hyperactivity, with each feature occurring infrequently alone. ADHD8 is an autosomal recessive form with onset in early childhood, usually by age 3 years. ADHD8 patients may manifest mild developmental delay with autism. ",
"keywords": null
},
{
"identifier": "Left ventricular non-compaction 5.",
"acronym": "LVNC5.",
"accession": "DI-05185",
"synonyms": null,
"cross_references": "MeSH; D056830.",
"definition": "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC5 is an autosomal dominant condition. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Ventriculomegaly with cystic kidney disease.",
"acronym": "VMCKD.",
"accession": "DI-04346",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A severe autosomal recessive developmental disorder manifesting in utero. It is characterized by cerebral ventriculomegaly, echogenic kidneys, microscopic renal tubular cysts and findings of congenital nephrosis. ",
"keywords": null
},
{
"identifier": "Attention deficit-hyperactivity disorder 7.",
"acronym": "ADHD7.",
"accession": "DI-02574",
"synonyms": null,
"cross_references": "MeSH; D001289.",
"definition": "A neurobehavioral developmental disorder primarily characterized by the coexistence of attentional problems and hyperactivity, with each behavior occurring infrequently alone. ",
"keywords": null
},
{
"identifier": "Leber-like hereditary optic neuropathy, autosomal recessive 2.",
"acronym": "LHONAR2.",
"accession": "DI-06787",
"synonyms": null,
"cross_references": "MeSH; D015418.",
"definition": "An autosomal recessive form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. LHONAR2 is characterized by subacute bilateral or asymmetrical visual loss, optic nerve pseudoedema and peripapillary telangiectasia in the early phase of the disease, and eventual partial recovery in some patients. ",
"keywords": "KW-0429:Leber hereditary optic neuropathy.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 19, transient infantile.",
"acronym": "HLD19.",
"accession": "DI-05713",
"synonyms": null,
"cross_references": "MeSH; D020279.",
"definition": "An autosomal dominant disorder characterized by marked hypomyelination on brain imaging, congenital nystagmus, and motor delay manifesting in early infancy. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leber congenital amaurosis with early-onset deafness.",
"acronym": "LCAEOD.",
"accession": "DI-05197",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "An autosomal dominant disease characterized by severe retinal degeneration and sensorineural hearing loss. Symptoms occur within the first decade of life. Onset at birth is observed in some patients. ",
"keywords": "KW-0209:Deafness.; KW-0901:Leber congenital amaurosis.; "
},
{
"identifier": "Leber congenital amaurosis 9.",
"acronym": "LCA9.",
"accession": "DI-03534",
"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": "Cavitary optic disc anomalies.",
"acronym": "CODA.",
"accession": "DI-04537",
"synonyms": null,
"cross_references": "MeSH; D015785.",
"definition": "An ocular disease characterized by a profound excavation of the optic nerve. Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disk anomaly. Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss. ",
"keywords": null
},
{
"identifier": "Leber congenital amaurosis 8.",
"acronym": "LCA8.",
"accession": "DI-00636",
"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 7.",
"acronym": "LCA7.",
"accession": "DI-00635",
"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 116.",
"acronym": "DEE116.",
"accession": "DI-06891",
"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. DEE116 is autosomal dominant form characterized by severe developmental delay, seizures, and white matter abnormalities. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Leber congenital amaurosis 6.",
"acronym": "LCA6.",
"accession": "DI-00634",
"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 5.",
"acronym": "LCA5.",
"accession": "DI-00633",
"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 115.",
"acronym": "DEE115.",
"accession": "DI-06882",
"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. DEE115 is an autosomal recessive, severe form characterized by onset soon after birth. Affected individuals show massive reduction of white matter, hypo- or aplasia of the corpus callosum, and neurodevelopmental arrest. Death in the first year of life may occur. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Leber congenital amaurosis 4.",
"acronym": "LCA4.",
"accession": "DI-00632",
"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 3.",
"acronym": "LCA3.",
"accession": "DI-00631",
"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.; "
}
]
}