HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5180&ordering=identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5140&ordering=identifier",
"results": [
{
"identifier": "Parkinson disease 17.",
"acronym": "PARK17.",
"accession": "DI-03242",
"synonyms": null,
"cross_references": "MeSH; D010300.",
"definition": "An autosomal dominant, adult-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 18.",
"acronym": "PARK18.",
"accession": "DI-03274",
"synonyms": "Parkinson disease 18, autosomal dominant, susceptibility to.; Parkinson disease 18 autosomal dominant.; ",
"cross_references": "MeSH; D010300.",
"definition": "An autosomal dominant, late-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 19A, juvenile-onset.",
"acronym": "PARK19A.",
"accession": "DI-03961",
"synonyms": "PARK19.; ",
"cross_references": "MeSH; D010300.",
"definition": "A juvenile form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK19A is characterized by onset of parkinsonian symptoms in the first or second decade of life. Some patients may have additional neurologic features, including intellectual disability and seizures. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 19B, early-onset.",
"acronym": "PARK19B.",
"accession": "DI-04813",
"synonyms": null,
"cross_references": "MeSH; D010300.",
"definition": "An early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK19B is characterized by symptoms onset in the third-to-fifth decade, slow disease progression, and prominent. response to dopaminergic therapies. Inheritance is autosomal recessive. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 1, autosomal dominant.",
"acronym": "PARK1.",
"accession": "DI-01223",
"synonyms": "Atypical parkinson disease.; Lewy body parkinsonism.; Parkinson disease autosomal dominant 1.; Parkinson disease familial type 1.; ",
"cross_references": "MeSH; D010300.",
"definition": "A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 2.",
"acronym": "PARK2.",
"accession": "DI-01238",
"synonyms": "Autosomal recessive early-onset Parkinson disease type 2.; Autosomal recessive juvenile Parkinson disease.; Chromosome 6-linked autosomal recessive parkinsonism.; Early-onset parkinsonism with diurnal fluctuation.; EPDF.; Parkinsonism young adult onset.; PDJ.; ",
"cross_references": "MeSH; D020734.",
"definition": "A neurodegenerative disorder characterized by bradykinesia, rigidity, postural instability, tremor, and onset usually before 40. It differs from classic Parkinson disease by early DOPA-induced dyskinesia, diurnal fluctuation of the symptoms, sleep benefit, dystonia and hyper-reflexia. Dementia is absent. Pathologically, patients show loss of dopaminergic neurons in the substantia nigra, similar to that seen in Parkinson disease; however, Lewy bodies (intraneuronal accumulations of aggregated proteins) are absent. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 20, early-onset.",
"acronym": "PARK20.",
"accession": "DI-03964",
"synonyms": null,
"cross_references": "MeSH; D020734.",
"definition": "An early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK20 is characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 21.",
"acronym": "PARK21.",
"accession": "DI-04425",
"synonyms": null,
"cross_references": "MeSH; D020734.",
"definition": "An autosomal dominant form of adult-onset Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 22.",
"acronym": "PARK22.",
"accession": "DI-04601",
"synonyms": "Parkinson disease 22, autosomal dominant.; ",
"cross_references": "MeSH; D020734.",
"definition": "An autosomal dominant form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 23, autosomal recessive, early onset.",
"acronym": "PARK23.",
"accession": "DI-04668",
"synonyms": null,
"cross_references": "MeSH; D020734.",
"definition": "An autosomal recessive, early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 24, autosomal dominant.",
"acronym": "PARK24.",
"accession": "DI-06202",
"synonyms": null,
"cross_references": "MeSH; D010300.",
"definition": "An autosomal dominant form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK24 shows incomplete penetrance. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development.",
"acronym": "PARK25.",
"accession": "DI-06748",
"synonyms": null,
"cross_references": "MeSH; D020734.",
"definition": "An autosomal recessive, early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK25 is characterized by onset of parkinsonism in late childhood or adolescence, developmental delay and intellectual disability. Cognitive impairment is mild to moderate and non- progressive. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Parkinson disease 4, autosomal dominant.",
"acronym": "PARK4.",
"accession": "DI-02135",
"synonyms": "Parkinson disease 4 autosomal dominant Lewy body.; Parkinson disease autosomal dominant 4.; Parkinson disease familial type 4.; ",
"cross_references": "MeSH; D010300.",
"definition": "A complex neurodegenerative disorder with manifestations ranging from typical Parkinson disease to dementia with Lewy bodies. Clinical features include parkinsonian symptoms (resting tremor, rigidity, postural instability and bradykinesia), dementia, diffuse Lewy body pathology, autonomic dysfunction, hallucinations and paranoia. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 5.",
"acronym": "PARK5.",
"accession": "DI-02947",
"synonyms": "Parkinson disease 5, autosomal dominant, susceptibility to.; Parkinson disease autosomal dominant 5.; ",
"cross_references": "MeSH; D010300.",
"definition": "A complex neurodegenerative disorder with manifestations ranging from typical Parkinson disease to dementia with Lewy bodies. Clinical features include parkinsonian symptoms (resting tremor, rigidity, postural instability and bradykinesia), dementia, diffuse Lewy body pathology, autonomic dysfunction, hallucinations and paranoia. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 6.",
"acronym": "PARK6.",
"accession": "DI-01239",
"synonyms": "Autosomal recessive early-onset Parkinson disease type 6.; Parkinson disease 6 early-onset.; Parkinson disease 6 late-onset susceptibility to.; Parkinson disease autosomal recessive early-onset digenic PINK1/DJ1.; Parkinsonism young adult onset.; ",
"cross_references": "MeSH; D020734.",
"definition": "An early-onset form of Parkinson disease, a neurodegenerative disorder characterized by parkinsonian signs such as rigidity, resting tremor and bradykinesia. A subset of patients manifest additional symptoms including hyperreflexia, autonomic instability, dementia and psychiatric disturbances. Symptoms show diurnal fluctuation and can improve after sleep. PARK6 pathogenesis involves respiratory complex I deficiency causing mitochondrial depolarization and dysfunction. Inheritance is autosomal recessive. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Parkinson disease 7.",
"acronym": "PARK7.",
"accession": "DI-01240",
"synonyms": "Amyotrophic lateral sclerosis-parkinsonism/dementia complex type 2.; Autosomal recessive early-onset Parkinson disease type 7.; ",
"cross_references": "MeSH; D020734.",
"definition": "A neurodegenerative disorder characterized by resting tremor, postural tremor, bradykinesia, muscular rigidity, anxiety and psychotic episodes. PARK7 has onset before 40 years, slow progression and initial good response to levodopa. Some patients may show traits reminiscent of amyotrophic lateral sclerosis-parkinsonism/dementia complex (Guam disease). ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 8.",
"acronym": "PARK8.",
"accession": "DI-02136",
"synonyms": null,
"cross_references": "MeSH; D010300.",
"definition": "A slowly progressive neurodegenerative disorder characterized by bradykinesia, rigidity, resting tremor, postural instability, neuronal loss in the substantia nigra, and the presence of neurofibrillary MAPT (tau)-positive and Lewy bodies in some patients. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinsonism-dystonia 1, infantile-onset.",
"acronym": "PKDYS1.",
"accession": "DI-02782",
"synonyms": "Dopamine transporter deficiency syndrome.; DTDS.; Dystonia-parkinsonism infantile.; Parkinsonism-dystonia infantile.; PKDYS.; ",
"cross_references": "MeSH; D020734.",
"definition": "An autosomal recessive neurodegenerative disorder characterized by infantile onset of parkinsonism and dystonia. Other neurologic features include global developmental delay, bradykinesia and pyramidal tract signs. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
},
{
"identifier": "Parkinsonism-dystonia 2, infantile-onset.",
"acronym": "PKDYS2.",
"accession": "DI-05288",
"synonyms": "Brain dopamine-serotonin vesicular transport disease.; Brain monoamine vesicular transport disease.; ",
"cross_references": "MeSH; D020734.",
"definition": "An autosomal recessive disorder characterized by infantile onset of abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. Some patients have variable degrees of developmental delay. ",
"keywords": "KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
},
{
"identifier": "Parkinsonism-dystonia 3, childhood-onset.",
"acronym": "PKDYS3.",
"accession": "DI-06334",
"synonyms": null,
"cross_references": "MeSH; D020734.",
"definition": "An autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Affected individuals present with progressive movement abnormalities, including parkinsonism with tremor, dystonia, myoclonus ataxia, and hyperkinetic movements such as ballismus. The parkinsonism features may be responsive to treatment with levodopa, although many patients develop levodopa-induced dyskinesia. Some patients may have mild cognitive impairment or psychiatric disturbances. ",
"keywords": "KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
}
]
}