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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4800&ordering=-synonyms",
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"results": [
{
"identifier": "Fanconi renotubular syndrome 5.",
"acronym": "FRTS5.",
"accession": "DI-05856",
"synonyms": "Fanconi renotubular syndrome, Acadian variant.; ",
"cross_references": "MeSH; D005198.",
"definition": "A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS5 is an autosomal recessive mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. ",
"keywords": null
},
{
"identifier": "Migraine, familial hemiplegic, 2.",
"acronym": "FHM2.",
"accession": "DI-01571",
"synonyms": "Familiar basilar migraine.; MHP2.; ",
"cross_references": "MeSH; D020325.",
"definition": "A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. ",
"keywords": null
},
{
"identifier": "Aortic aneurysm, familial thoracic 6.",
"acronym": "AAT6.",
"accession": "DI-00130",
"synonyms": "Familial thoracic aortic aneurysm with livedo reticularis and iris flocculi.; ",
"cross_references": "MeSH; D017545.",
"definition": "A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. ",
"keywords": "KW-0993:Aortic aneurysm.; "
},
{
"identifier": "Infantile striatonigral degeneration.",
"acronym": "SNDI.",
"accession": "DI-01821",
"synonyms": "Familial striatal degeneration.; IBSN.; Infantile bilateral striatal necrosis.; ",
"cross_references": "MedGen; C0795996.",
"definition": "Neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and intellectual disability. ",
"keywords": null
},
{
"identifier": "Spastic paraplegia 6, autosomal dominant.",
"acronym": "SPG6.",
"accession": "DI-01037",
"synonyms": "Familial spastic paraplegia autosomal dominant 3.; FSP3.; ",
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 4, autosomal dominant.",
"acronym": "SPG4.",
"accession": "DI-01036",
"synonyms": "Familial spastic paraplegia autosomal dominant 2.; FSP2.; ",
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Spastic paraplegia 3, autosomal dominant.",
"acronym": "SPG3.",
"accession": "DI-01035",
"synonyms": "Familial spastic paraplegia autosomal dominant 1.; FSP1.; SPG3A.; Strumpell disease.; Strumpell-Lorrain syndrome.; ",
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Hereditary neuropathy with liability to pressure palsies.",
"acronym": "HNPP.",
"accession": "DI-00546",
"synonyms": "Familial recurrent polyneuropathy.; Tomaculous neuropathy.; ",
"cross_references": "MeSH; D011115.",
"definition": "A neurologic disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "PAPA syndrome.",
"acronym": "PAPAS.",
"accession": "DI-02127",
"synonyms": "Familial recurrent arthritis.; FRA.; Pyogenic sterile arthritis, pyoderma gangrenosum and acne.; ",
"cross_references": "MedGen; C1858361.",
"definition": "Characterized by autosomal dominant inheritance of early-onset, primarily affecting skin and joint tissues. Recurring inflammatory episodes lead to accumulation of sterile, pyogenic, neutrophil-rich material within the affected joints, ultimately resulting in significant destruction. ",
"keywords": null
},
{
"identifier": "Paroxysmal extreme pain disorder.",
"acronym": "PEXPD.",
"accession": "DI-02140",
"synonyms": "Familial rectal pain.; FRP.; Pain, submandibular, ocular, and rectal, with flushing.; PEPD.; ",
"cross_references": "MeSH; D010146.",
"definition": "An autosomal dominant paroxysmal disorder of pain and autonomic dysfunction. The distinctive features are paroxysmal episodes of burning pain in the rectal, ocular, and mandibular areas accompanied by autonomic manifestations such as skin flushing. ",
"keywords": null
},
{
"identifier": "Pulmonary venoocclusive disease 2, autosomal recessive.",
"acronym": "PVOD2.",
"accession": "DI-04023",
"synonyms": "Familial pulmonary capillary hemangiomatosis.; ",
"cross_references": "MeSH; D011668.",
"definition": "A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension. ",
"keywords": null
},
{
"identifier": "Prostate cancer, hereditary, 2.",
"acronym": "HPC2.",
"accession": "DI-03498",
"synonyms": "Familial prostate cancer 2.; ",
"cross_references": "MeSH; D011471.",
"definition": "A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. ",
"keywords": null
},
{
"identifier": "Prostate cancer, hereditary, 1.",
"acronym": "HPC1.",
"accession": "DI-01736",
"synonyms": "Familial prostate cancer 1.; PRCA1.; ",
"cross_references": "MeSH; D011471.",
"definition": "A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. ",
"keywords": null
},
{
"identifier": "Prostate cancer, hereditary, 13.",
"acronym": "HPC13.",
"accession": "DI-02660",
"synonyms": "Familial prostate cancer 13.; ",
"cross_references": "MeSH; D011471.",
"definition": "A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. ",
"keywords": null
},
{
"identifier": "Prostate cancer, hereditary, 12.",
"acronym": "HPC12.",
"accession": "DI-02661",
"synonyms": "Familial prostate cancer 12.; ",
"cross_references": "MeSH; D011471.",
"definition": "A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. ",
"keywords": null
},
{
"identifier": "Prostate cancer, hereditary, 11.",
"acronym": "HPC11.",
"accession": "DI-02662",
"synonyms": "Familial prostate cancer 11.; ",
"cross_references": "MeSH; D011471.",
"definition": "A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. ",
"keywords": null
},
{
"identifier": "Hyperparathyroidism 2 with jaw tumors.",
"acronym": "HRPT2.",
"accession": "DI-01780",
"synonyms": "Familial primary hyperparathyroidism with multiple ossifying jaw fibromas.; HPT-JT.; Hyperparathyroidism-jaw tumor syndrome.; ",
"cross_references": "MeSH; D049950.",
"definition": "An autosomal dominant neoplasia syndrome characterized by primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer. ",
"keywords": null
},
{
"identifier": "Lipodystrophy, familial partial, 2.",
"acronym": "FPLD2.",
"accession": "DI-01595",
"synonyms": "Familial partial lipodystrophy Dunnigan type.; FPL2.; Generalized lipoatrophy associated with diabetes, hepatic steatosis, hypertrophic cardiomyopathy and leukomelanodermic papules.; Lipoatrophic diabetes.; Lipodystrophy familial of limbs and lower trunk.; Lipodystrophy reverse partial.; ",
"cross_references": "MeSH; D052496.",
"definition": "A disorder characterized by the loss of subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk). It is accompanied by an accumulation of adipose tissue in the face and neck causing a double chin, fat neck, or cushingoid appearance. Adipose tissue may also accumulate in the axillae, back, labia majora, and intraabdominal region. Affected patients are insulin-resistant and may develop glucose intolerance and diabetes mellitus after age 20 years, hypertriglyceridemia, and low levels of high density lipoprotein cholesterol. ",
"keywords": null
},
{
"identifier": "Lipodystrophy, familial partial, 3.",
"acronym": "FPLD3.",
"accession": "DI-01596",
"synonyms": "Familial partial lipodystrophy associated with PPARG mutations.; ",
"cross_references": "MeSH; D052496.",
"definition": "A form of lipodystrophy characterized by marked loss of subcutaneous fat from the extremities. Facial adipose tissue may be increased, decreased or normal. Affected individuals show an increased preponderance of insulin resistance, diabetes mellitus and dyslipidemia. ",
"keywords": null
},
{
"identifier": "Lipodystrophy, familial partial, 4.",
"acronym": "FPLD4.",
"accession": "DI-03072",
"synonyms": "Familial partial lipodystrophy associated with PLIN1 mutations.; ",
"cross_references": "MeSH; D052496.",
"definition": "A form of lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension. ",
"keywords": null
}
]
}