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"count": 6723,
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"results": [
{
"identifier": "Cardiomyopathy, familial hypertrophic, 26.",
"acronym": "CMH26.",
"accession": "DI-04771",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial restrictive 3.",
"acronym": "RCM3.",
"accession": "DI-00247",
"synonyms": null,
"cross_references": "MeSH; D002313.",
"definition": "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Brittle cornea syndrome 2.",
"acronym": "BCS2.",
"accession": "DI-03176",
"synonyms": null,
"cross_references": "MeSH; D004535.",
"definition": "A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 20.",
"acronym": "CMH20.",
"accession": "DI-03041",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Basal cell carcinoma 7.",
"acronym": "BCC7.",
"accession": "DI-03503",
"synonyms": null,
"cross_references": "MeSH; D002280.",
"definition": "A common malignant skin neoplasm that typically appears on hair- bearing skin, most commonly on sun-exposed areas. It is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 16.",
"acronym": "CMH16.",
"accession": "DI-03037",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cerebellar atrophy, visual impairment, and psychomotor retardation.",
"acronym": "CAVIPMR.",
"accession": "DI-04673",
"synonyms": null,
"cross_references": "MeSH; D019636.",
"definition": "An autosomal recessive, neurodegenerative disorder characterized by developmental delay, intellectual disability, hypotonia, scoliosis, cerebellar atrophy, and variable dysmorphic features. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Calcification of joints and arteries.",
"acronym": "CALJA.",
"accession": "DI-03016",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A condition characterized by adult-onset calcification of the lower extremity arteries, including the iliac, femoral and tibial arteries, and hand and foot capsule joints. Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands. ",
"keywords": null
},
{
"identifier": "Basal ganglia calcification, idiopathic, 4.",
"acronym": "IBGC4.",
"accession": "DI-03665",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"identifier": "Basal ganglia calcification, idiopathic, 5.",
"acronym": "IBGC5.",
"accession": "DI-03923",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"identifier": "Basal ganglia calcification, idiopathic, 6.",
"acronym": "IBGC6.",
"accession": "DI-04453",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"identifier": "Birk-Landau-Perez syndrome.",
"acronym": "BILAPES.",
"accession": "DI-05046",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy. ",
"keywords": null
},
{
"identifier": "Basal ganglia calcification, idiopathic, 7, autosomal recessive.",
"acronym": "IBGC7.",
"accession": "DI-05477",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"identifier": "Basal ganglia calcification, idiopathic, 8, autosomal recessive.",
"acronym": "IBGC8.",
"accession": "DI-05778",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"identifier": "Basal ganglia calcification, idiopathic, 9, autosomal recessive.",
"acronym": "IBGC9.",
"accession": "DI-06885",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 3.",
"acronym": "CMH3.",
"accession": "DI-00235",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial restrictive 1.",
"acronym": "RCM1.",
"accession": "DI-00246",
"synonyms": null,
"cross_references": "MeSH; D002313.",
"definition": "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Bethlem myopathy 1C.",
"acronym": "BTHLM1C.",
"accession": "DI-06834",
"synonyms": null,
"cross_references": "MeSH; D009136.",
"definition": "A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. BTHLM1C inheritance is autosomal dominant. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; "
},
{
"identifier": "Basel-Vanagaite-Smirin-Yosef syndrome.",
"acronym": "BVSYS.",
"accession": "DI-04474",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Congenital bile acid synthesis defect 5.",
"acronym": "CBAS5.",
"accession": "DI-04360",
"synonyms": null,
"cross_references": "MeSH; D008107.",
"definition": "An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma. ",
"keywords": null
}
]
}