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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3120&ordering=synonyms",
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"results": [
{
"identifier": "Pancreatic cancer.",
"acronym": "PNCA.",
"accession": "DI-02124",
"synonyms": "Pancreatic acinar carcinoma.; Pancreatic carcinoma.; ",
"cross_references": "MeSH; D010190.",
"definition": "A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. ",
"keywords": null
},
{
"identifier": "Polydactyly, postaxial A1.",
"acronym": "PAPA1.",
"accession": "DI-02397",
"synonyms": "PAPA.; Postaxial polydactyly.; Postaxial polydactyly type A.; ",
"cross_references": "MeSH; D017689.",
"definition": "A condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia.",
"acronym": "IMD100.",
"accession": "DI-06438",
"synonyms": "PAPHG.; Pulmonary alveolar proteinosis with hypogammaglobulinemia.; ",
"cross_references": "MeSH; D011649.",
"definition": "An autosomal dominant disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life. Disease development appears to be influenced or triggered by viral infection. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. ",
"keywords": null
},
{
"identifier": "Pheochromocytoma/paraganglioma syndrome 5.",
"acronym": "PPGL5.",
"accession": "DI-03195",
"synonyms": "Paragangliomas 5.; PGL5.; ",
"cross_references": "MeSH; D010235.",
"definition": "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL5 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Pheochromocytoma/paraganglioma syndrome 6.",
"acronym": "PPGL6.",
"accession": "DI-05590",
"synonyms": "Paragangliomas 6.; PGL6.; ",
"cross_references": "MeSH; D010235.",
"definition": "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL6 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Pheochromocytoma/paraganglioma syndrome 7.",
"acronym": "PPGL7.",
"accession": "DI-05591",
"synonyms": "Paragangliomas 7.; PGL7.; ",
"cross_references": "MeSH; D010235.",
"definition": "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL7 tumors are generally benign, tend to be abdominal, and often secrete normetanephrine. PPGL7 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Paramyotonia congenita.",
"acronym": "PMC.",
"accession": "DI-00901",
"synonyms": "Paralysis periodica paramyotonia.; Paralysis periodica paramyotonica.; Paramyotonia congenita of von Eulenburg.; Paramyotonia congenita without cold paralysis.; ",
"cross_references": "MeSH; D020967.",
"definition": "An autosomal dominant channelopathy characterized by myotonia, increased by exposure to cold, intermittent flaccid paresis, not necessarily dependent on cold or myotonia, lability of serum potassium, non-progressive nature and lack of atrophy or hypertrophy of muscles. In some patients, myotonia is not increased by cold exposure (paramyotonia without cold paralysis). Patients may have a combination phenotype of PMC and HYPP. ",
"keywords": null
},
{
"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 11.",
"acronym": "PARK11.",
"accession": "DI-02137",
"synonyms": "Parkinson disease 11, autosomal dominant, susceptibility to.; ",
"cross_references": "MeSH; D010300.",
"definition": "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 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 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": "Perry syndrome.",
"acronym": "PERRYS.",
"accession": "DI-02797",
"synonyms": "Parkinsonism with alveolar hypoventilation and mental depression.; ",
"cross_references": "MeSH; D020734.",
"definition": "A neuropsychiatric disorder characterized by mental depression not responsive to antidepressant drugs or electroconvulsive therapy, sleep disturbances, exhaustion and marked weight loss. Parkinsonism develops later and respiratory failure occurred terminally. ",
"keywords": "KW-0908:Parkinsonism.; "
},
{
"identifier": "Eosinophil peroxidase deficiency.",
"acronym": "EPXD.",
"accession": "DI-01529",
"synonyms": "Partial eosinophil peroxidase deficiency.; Peroxidase and phospholipid deficiency in eosinophils.; Presentey anomaly.; ",
"cross_references": "MeSH; D007960.",
"definition": "A rare abnormality without clinical symptoms characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix in eosinophils. ",
"keywords": null
},
{
"identifier": "Proteus syndrome.",
"acronym": "PROTEUSS.",
"accession": "DI-03216",
"synonyms": "Partial gigantism of hands and feet nevi hemihypertrophy and macrocephaly.; ",
"cross_references": "MeSH; D016715.",
"definition": "A highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Many features of Proteus syndrome overlap with other overgrowth syndromes. ",
"keywords": null
},
{
"identifier": "Hydroxykynureninuria.",
"acronym": "HYXKY.",
"accession": "DI-04276",
"synonyms": "Partial kynureninase deficiency.; Xanthurenic aciduria.; ",
"cross_references": "MeSH; D000592.",
"definition": "An inborn error of amino acid metabolism characterized by massive urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine and xanthurenic acid. Affected individuals manifest renal tubular dysfunction, metabolic acidosis, psychomotor retardation, non- progressive encephalopathy, and muscular hypertonia. ",
"keywords": null
},
{
"identifier": "SHORT syndrome.",
"acronym": "SHORTS.",
"accession": "DI-03868",
"synonyms": "Partial lipodystrophy with Rieger anomaly and short stature.; Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay.; ",
"cross_references": "MeSH; D008060.",
"definition": "A rare, multisystem disease characterized by short stature, anomalies of the anterior chamber of the eye, characteristic facial features such as triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, partial lipodystrophy, hernias, hyperextensibility, and delayed dentition. The clinical phenotype can include insulin resistance, nephrocalcinosis, and hearing deficits. Developmental milestones and cognition are normal. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Heimler syndrome 2.",
"acronym": "HMLR2.",
"accession": "DI-04564",
"synonyms": "PBD4C.; Peroxisome biogenesis disorder 4C.; ",
"cross_references": "MeSH; D009260.",
"definition": "A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities. ",
"keywords": "KW-0209:Deafness.; KW-0958:Peroxisome biogenesis disorder.; KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Acute intermittent porphyria.",
"acronym": "AIP.",
"accession": "DI-00037",
"synonyms": "PBGD deficiency.; Porphobilinogen deaminase deficiency.; Porphyria, Swedish type.; UPS deficiency.; Uroporphyrinogen synthase deficiency.; ",
"cross_references": "MeSH; D017118.",
"definition": "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. ",
"keywords": null
}
]
}