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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=220&ordering=-identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=180&ordering=-identifier",
"results": [
{
"identifier": "Type 1 diabetes mellitus 5.",
"acronym": "T1D5.",
"accession": "DI-05295",
"synonyms": "Diabetes mellitus, insulin-dependent, 5.; IDDM5.; ",
"cross_references": "MeSH; D003922.",
"definition": "A form of diabetes mellitus, a multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Type 1 diabetes mellitus 22.",
"acronym": "T1D22.",
"accession": "DI-02780",
"synonyms": "Diabetes mellitus, insulin-dependent, 22.; IDDM22.; ",
"cross_references": "MeSH; D003922.",
"definition": "A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Type 1 diabetes mellitus 20.",
"acronym": "T1D20.",
"accession": "DI-02779",
"synonyms": "Diabetes mellitus, insulin-dependent, 20.; IDDM20.; ",
"cross_references": "MeSH; D003922.",
"definition": "A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Type 1 diabetes mellitus 2.",
"acronym": "T1D2.",
"accession": "DI-02788",
"synonyms": "Diabetes mellitus, insulin-dependent, 2.; IDDM2.; ",
"cross_references": "MeSH; D003922.",
"definition": "A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Type 1 diabetes mellitus 19.",
"acronym": "T1D19.",
"accession": "DI-02778",
"synonyms": "Diabetes mellitus, insulin-dependent, 19.; IDDM19.; ",
"cross_references": "MeSH; D003922.",
"definition": "A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Type 1 diabetes mellitus 12.",
"acronym": "T1D12.",
"accession": "DI-02777",
"synonyms": "Diabetes mellitus, insulin-dependent, 12.; IDDM12.; Insulin-dependent diabetes mellitus 12.; ",
"cross_references": "MeSH; D003922.",
"definition": "A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Type 1 diabetes mellitus 10.",
"acronym": "T1D10.",
"accession": "DI-02776",
"synonyms": "Diabetes mellitus, insulin-dependent, 10.; IDDM10.; ",
"cross_references": "MeSH; D003922.",
"definition": "A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Type 1 diabetes mellitus.",
"acronym": "T1D.",
"accession": "DI-01826",
"synonyms": "Diabetes mellitus, insulin-dependent.; IDDM.; ",
"cross_references": "MeSH; D003922.",
"definition": "A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. ",
"keywords": null
},
{
"identifier": "Tylosis with esophageal cancer.",
"acronym": "TOC.",
"accession": "DI-03431",
"synonyms": "Keratosis palmaris et plantaris with esophageal cancer.; Palmoplantar keratoderma with esophageal cancer.; ",
"cross_references": "MeSH; D015776.",
"definition": "An autosomal dominant syndrome characterized by focal non- epidermolytic palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of developing esophageal squamous cell carcinoma. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Turnpenny-Fry syndrome.",
"acronym": "TPFS.",
"accession": "DI-05516",
"synonyms": "Neurocardioskeletal syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "A syndrome characterized by facial dysmorphism, intellectual disability, feeding problems, impaired growth, and a range of brain, cardiovascular, and skeletal abnormalities. Craniofacial features include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic ears. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Tumor predisposition syndrome 4.",
"acronym": "TPDS4.",
"accession": "DI-02882",
"synonyms": "Cancer predisposition syndrome, CHEK2-related.; LFS2.; Li-Fraumeni syndrome 2.; ",
"cross_references": "MeSH; D016864.",
"definition": "A disorder characterized by an increased risk for developing various types of benign and/or malignant neoplasms that arise at an accelerated rate and in different organs. ",
"keywords": null
},
{
"identifier": "Tumor predisposition syndrome 3.",
"acronym": "TPDS3.",
"accession": "DI-04136",
"synonyms": "CMM10.; Glioma 9.; GLM9.; Long telomere syndrome, POT1-related.; Melanoma, cutaneous malignant 10.; ",
"cross_references": "MeSH; D008545.",
"definition": "An autosomal dominant disorder characterized by an increased risk for the development of various types of benign and malignant neoplasms throughout life, with age-dependent penetrance. Affected individuals can develop neoplasms involving epithelial, mesenchymal, and neuronal tissues, as well as lymphoid and myeloid cancers. The disorder is associated with elongated telomeres. ",
"keywords": null
},
{
"identifier": "Tumor predisposition syndrome 2.",
"acronym": "TPDS2.",
"accession": "DI-06473",
"synonyms": "MANS.; MBD4-associated neoplasia syndrome.; ",
"cross_references": "MeSH; D009386.",
"definition": "An autosomal recessive condition characterized by predisposition to develop a variety of tumors or malignancies, including acute myeloid leukemia, myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma. ",
"keywords": null
},
{
"identifier": "Tumor predisposition syndrome 1.",
"acronym": "TPDS1.",
"accession": "DI-03304",
"synonyms": null,
"cross_references": "MeSH; D009386.",
"definition": "An autosomal dominant condition characterized by predisposition to develop a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, lung adenocarcinoma and meningioma. ",
"keywords": null
},
{
"identifier": "Tumoral calcinosis, normophosphatemic, familial.",
"acronym": "NFTC.",
"accession": "DI-02078",
"synonyms": "Tumoral calcinosis with normophosphatemia.; ",
"cross_references": "MeSH; D002114.",
"definition": "An uncommon, life-threatening disorder characterized by progressive deposition of calcified masses in cutaneous and subcutaneous tissues. Serum phosphate levels are normal. Clinical features include painful calcified ulcerative lesions and massive calcium deposition in the mid- and lower dermis, severe skin and bone infections, erythematous papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC shows a striking resemblance to acquired dystrophic calcinosis, in which tissue calcification occurs as a consequence of tissue injury/inflammation. ",
"keywords": null
},
{
"identifier": "Tumoral calcinosis, hyperphosphatemic, familial, 3.",
"acronym": "HFTC3.",
"accession": "DI-05254",
"synonyms": null,
"cross_references": "MeSH; D054559.",
"definition": "A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. ",
"keywords": null
},
{
"identifier": "Tumoral calcinosis, hyperphosphatemic, familial, 2.",
"acronym": "HFTC2.",
"accession": "DI-05253",
"synonyms": null,
"cross_references": "MeSH; D054559.",
"definition": "A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. ",
"keywords": null
},
{
"identifier": "Tumoral calcinosis, hyperphosphatemic, familial, 1.",
"acronym": "HFTC1.",
"accession": "DI-00573",
"synonyms": "Cortical hyperostosis with hyperphosphatemia.; Familial tumoral calcinosis with hyperphosphatemia.; HHS.; Hyperostosis-hyperphosphatemia syndrome.; Hyperostosis with hyperphosphatemia.; Lipocalcinogranulomatosis.; Morbus Teutschlaender.; PHPTC.; Teutschlaender disease.; Tumoral calcinosis primary hyperphosphatemic.; ",
"cross_references": "MeSH; D054559.",
"definition": "A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. ",
"keywords": null
},
{
"identifier": "Tubulointerstitial kidney disease, autosomal dominant, 5.",
"acronym": "ADTKD5.",
"accession": "DI-04780",
"synonyms": "Familial juvenile hyperuricemic nephropathy 4.; HNFJ4.; Hyperuricemic nephropathy, familial juvenile, 4.; ",
"cross_references": "MeSH; D007674.",
"definition": "A form of autosomal dominant tubulointerstitial kidney disease, a genetically heterogeneous disorder characterized by slowly progressive loss of kidney function, bland urinary sediment, hyperuricemia, absent or mildly increased albuminuria, lack of severe hypertension during the early stages, and normal or small kidneys on ultrasound. Renal histology shows variable abnormalities including interstitial fibrosis with tubular atrophy, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. There is significant variability, as well as incomplete penetrance. ",
"keywords": null
},
{
"identifier": "Tubulointerstitial kidney disease, autosomal dominant, 4.",
"acronym": "ADTKD4.",
"accession": "DI-02783",
"synonyms": "Early-onset hyperuricemia anemia and progressive kidney failure.; Familial juvenile hyperuricemic nephropathy 2.; HNFJ2.; ",
"cross_references": "MeSH; D007674.",
"definition": "A form of autosomal dominant tubulointerstitial kidney disease, a genetically heterogeneous disorder characterized by slowly progressive loss of kidney function, bland urinary sediment, hyperuricemia, absent or mildly increased albuminuria, lack of severe hypertension during the early stages, and normal or small kidneys on ultrasound. Renal histology shows variable abnormalities including interstitial fibrosis with tubular atrophy, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. There is significant variability, as well as incomplete penetrance. ",
"keywords": null
}
]
}