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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3720",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3680",
"results": [
{
"identifier": "Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate.",
"acronym": "ARLIAK.",
"accession": "DI-05532",
"synonyms": null,
"cross_references": "MeSH; D056784.",
"definition": "An autosomal recessive disorder characterized by acute, reversible neurological deterioration during febrile illness. Patients exhibit reversible leukoencephalopathy and increased urinary excretion of alpha-ketoglutarate. ",
"keywords": null
},
{
"identifier": "Leukoencephalopathy, cystic, without megalencephaly.",
"acronym": "LCWM.",
"accession": "DI-02726",
"synonyms": null,
"cross_references": "MeSH; D056784.",
"definition": "An infantile-onset syndrome of cerebral leukoencephalopathy. Affected newborns develop microcephaly and neurologic abnormalities including psychomotor impairment, seizures and sensorineural hearing impairment. The brain shows multifocal white matter lesions, anterior temporal lobe subcortical cysts, pericystic abnormal myelination, ventriculomegaly and intracranial calcifications. ",
"keywords": null
},
{
"identifier": "Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome.",
"acronym": "LEUDEN.",
"accession": "DI-05835",
"synonyms": "LEUDEN syndrome.; ",
"cross_references": "MeSH; D056784.",
"definition": "An autosomal dominant disorder characterized by global developmental delay apparent in early childhood, cognitive impairment, ataxia, poor or absent speech with dysarthria, hypotonia, hypertonia, extrapyramidal signs, tremor, and abnormal involuntary movements. Affected individuals also exhibit neurological regression in the setting of febrile illness or infection. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities with poor myelination. ",
"keywords": null
},
{
"identifier": "Leukoencephalopathy, hereditary diffuse, with spheroids 1.",
"acronym": "HDLS1.",
"accession": "DI-03392",
"synonyms": "ALSP.; Autosomal dominant leukoencephalopathy with neuroaxonal spheroids.; Familial dementia Neumann type.; Familial progressive subcortical gliosis.; GPSC.; HDLS.; Leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia.; Leukoencephalopathy, diffuse hereditary, with spheroids.; Subcortical gliosis of Neumann.; ",
"cross_references": "MeSH; D056784.",
"definition": "An autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Leukoencephalopathy, hereditary diffuse, with spheroids 2.",
"acronym": "HDLS2.",
"accession": "DI-06298",
"synonyms": "HDLS-S.; Leukoencephalopathy, hereditary diffuse, with spheroids, Swedish type.; Swedish type hereditary diffuse leukoencephalopathy with spheroids.; ",
"cross_references": "MeSH; D056784.",
"definition": "An autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Symptom onset is usually in adulthood, although earlier onset has been reported. Some patients have an acute encephalopathic course with severe neurologic decline resulting in early death, whereas other patients have a more protracted and chronic disease course. Neuropathologic examination shows a leukoencephalopathy with axonal spheroids and myelination defects. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome.",
"acronym": "LEMSPAD.",
"accession": "DI-05836",
"synonyms": null,
"cross_references": "MeSH; D056784.",
"definition": "A disorder characterized by delayed motor development, speech delay with dysarthria, hypertonia, progressive spasticity, hyperreflexia, and bradykinesia. Cognition is normal. Patients manifest anxiety and attention deficit-hyperactivity disorder. ",
"keywords": null
},
{
"identifier": "Leukoencephalopathy, porphyria-related.",
"acronym": "LENCEP.",
"accession": "DI-06844",
"synonyms": null,
"cross_references": "MeSH; D001927.",
"definition": "An autosomal recessive disorder characterized by slowly progressive spasticity, ataxia, peripheral neuropathy, with or without mild cognitive impairment, and/or ocular disease with onset in childhood or adolescence. ",
"keywords": null
},
{
"identifier": "Leukoencephalopathy, progressive, infantile-onset, with or without deafness.",
"acronym": "LEPID.",
"accession": "DI-06031",
"synonyms": null,
"cross_references": "MeSH; D056784.",
"definition": "An autosomal recessive, complex neurodegenerative disorder apparent from infancy. LEPID is characterized by early-onset progressive leukoencephalopathy with brainstem and spinal cord calcifications, sensorineural deafness in most patients, global developmental delay with cognitive impairment and poor or absent speech, developmental regression, and neurologic deterioration. Additional more variable features may include poor overall growth with microcephaly, seizures, visual loss, microcytic anemia, and hepatic enlargement or abnormal liver enzymes. Premature death is common. ",
"keywords": "KW-0209:Deafness.; KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Leukoencephalopathy, progressive, with ovarian failure.",
"acronym": "LKENP.",
"accession": "DI-04191",
"synonyms": null,
"cross_references": "MeSH; D056784.",
"definition": "An autosomal recessive neurodegenerative disorder characterized by childhood- to adulthood-onset of signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline with features of frontal lobe dysfunction. Brain MRI shows leukoencephalopathy with striking involvement of deep white matter, and cerebellar atrophy. All female patients develop premature ovarian failure. ",
"keywords": "KW-0523:Neurodegeneration.; KW-1066:Premature ovarian failure.; "
},
{
"identifier": "Leukoencephalopathy with ataxia.",
"acronym": "LKPAT.",
"accession": "DI-04040",
"synonyms": null,
"cross_references": "MeSH; D056784.",
"definition": "An autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles, suggesting myelin microvacuolation. Clinical features include ataxia and unstable gait. More variable abnormalities may include visual field defects, headaches, and learning disabilities. ",
"keywords": null
},
{
"identifier": "Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.",
"acronym": "LBSL.",
"accession": "DI-01899",
"synonyms": null,
"cross_references": "MedGen; C1970180.",
"definition": "Autosomal recessive disease and is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy. Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline. ",
"keywords": null
},
{
"identifier": "Leukoencephalopathy with dystonia and motor neuropathy.",
"acronym": "LKDMN.",
"accession": "DI-02987",
"synonyms": "Sterol carrier protein 2 deficiency.; ",
"cross_references": "MeSH; D056784.",
"definition": "A syndrome characterized by leukoencephalopathy, dystonic head tremor, spasmodic torticollis and reduced tendon reflexes in lower extremities. Additional features include hyposmia, pathologic saccadic eye movements, a slight hypoacusis, accumulation of branched-chain pristanic acid in plasma, and the presence of abnormal bile alcohol glucuronides in urine. ",
"keywords": null
},
{
"identifier": "Leukoencephalopathy with vanishing white matter 1.",
"acronym": "VWM1.",
"accession": "DI-00654",
"synonyms": "CACH.; Childhood ataxia with central nervous system hypomyelinization.; CLE.; Cree leukoencephalopathy.; Leukodystrophy with vanishing white matter.; Leukoencephalopathy with vanishing white matter.; Vanishing white matter disease.; VWM.; ",
"cross_references": "MeSH; D056784.",
"definition": "An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukoencephalopathy with vanishing white matter 2.",
"acronym": "VWM2.",
"accession": "DI-06648",
"synonyms": "Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure.; ",
"cross_references": "MeSH; D056784.",
"definition": "An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukoencephalopathy with vanishing white matter 3.",
"acronym": "VWM3.",
"accession": "DI-06649",
"synonyms": "Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure.; ",
"cross_references": "MeSH; D056784.",
"definition": "An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukoencephalopathy with vanishing white matter 4.",
"acronym": "VWM4.",
"accession": "DI-06650",
"synonyms": "Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure.; ",
"cross_references": "MeSH; D056784.",
"definition": "An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukoencephalopathy with vanishing white matter 5.",
"acronym": "VWM5.",
"accession": "DI-06651",
"synonyms": "CLE.; Cree leukoencephalopathy.; Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure.; ",
"cross_references": "MeSH; D056784.",
"definition": "An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "L-ferritin deficiency.",
"acronym": "LFTD.",
"accession": "DI-04015",
"synonyms": "L-ferritin deficiency dominant and recessive.; ",
"cross_references": "MeSH; D019189.",
"definition": "A condition characterized by low levels of ferritin in serum and tissues in the absence of other hematological symptoms. Seizures and mild neuropsychologic impairment may manifest in individuals with complete ferritin deficiency. ",
"keywords": null
},
{
"identifier": "Lhermitte-Duclos disease.",
"acronym": "LDD.",
"accession": "DI-01903",
"synonyms": "Cerebellar granule cell hypertrophy and megalencephaly.; Cerebelloparenchymal disorder VI.; CPD6.; Dysplastic gangliocytoma of the cerebellum.; PHTS.; PTEN hamartoma tumor syndrome.; ",
"cross_references": "MeSH; D006223.",
"definition": "A rare disease characterized by the occurrence of a slowly enlarging mass within the cerebellar cortex corresponding histologically to a cerebellar hamartoma. It manifests, most commonly in the third and fourth decades of life, with increased intracranial pressure, headache, nausea, cerebellar dysfunction, occlusive hydrocephalus, ataxia, visual disturbances and other cranial nerve palsies. Various associated abnormalities may be present such as megalencephaly, microgyria, hydromyelia, polydactyly, partial gigantism, macroglossia. LDD is part of the PTEN hamartoma tumor syndromes spectrum that also includes Cowden syndrome. ",
"keywords": null
},
{
"identifier": "Liang-Wang syndrome.",
"acronym": "LIWAS.",
"accession": "DI-05730",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant syndrome characterized by a highly variable phenotype and severity. The broad spectrum of clinical features includes developmental delay, intellectual disability, ataxia, axial hypotonia, and poor or absent speech, visceral and cardiac malformations, connective tissue presentations with arterial involvement, bone dysplasia and characteristic craniofacial dysmorphism. About half of patients have cerebral and cerebellar atrophy, and thin corpus callosum. ",
"keywords": null
}
]
}