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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4820&ordering=-synonyms",
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"results": [
{
"identifier": "Lipodystrophy, familial partial, 5.",
"acronym": "FPLD5.",
"accession": "DI-03748",
"synonyms": "Familial partial lipodystrophy associated with CIDEC mutations.; ",
"cross_references": "MeSH; D052496.",
"definition": "A form of lipodystrophy characterized by loss of subcutaneous adipose tissue affecting limb, femorogluteal and subcutaneous abdominal fat, preservation of visceral, neck and axilliary fat, hepatomegaly, hepatic steatosis and insulin-resistant diabetes. ",
"keywords": null
},
{
"identifier": "Thyroid cancer, non-medullary, 1.",
"acronym": "NMTC1.",
"accession": "DI-02698",
"synonyms": "Familial non-medullary thyroid cancer.; Familial nonmedullary thyroid cancer, papillary.; FNMTC.; NMTC.; Nonmedullary thyroid carcinoma.; Non-medullary thyroid carcinoma.; Nonmedullary thyroid carcinoma, papillary.; PACT.; Papillary carcinoma of thyroid.; PTC.; TPC.; ",
"cross_references": "MeSH; D013964.",
"definition": "A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. ",
"keywords": null
},
{
"identifier": "Pheochromocytoma/paraganglioma syndrome 3.",
"acronym": "PPGL3.",
"accession": "DI-01218",
"synonyms": "Familial non-chromaffin paragangliomas 3.; Glomus tumors, familial, 3.; Paragangliomas 3.; PGL3.; ",
"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. PPGL3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Pheochromocytoma/paraganglioma syndrome 2.",
"acronym": "PPGL2.",
"accession": "DI-01734",
"synonyms": "Familial non-chromaffin paragangliomas 2.; Glomus tumors familial 2.; Paragangliomas 2.; PGL2.; ",
"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. PPGL2 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Factor V and factor VIII combined deficiency 1.",
"acronym": "F5F8D1.",
"accession": "DI-01546",
"synonyms": "Familial multiple coagulation factor deficiency I.; FMFD1.; FMFD I.; MCFD1.; Multiple coagulation factor deficiency 1.; Multiple coagulation factor deficiency I.; ",
"cross_references": "MeSH; D025861.",
"definition": "A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. ",
"keywords": null
},
{
"identifier": "Meningioma.",
"acronym": "MNGMA.",
"accession": "DI-04248",
"synonyms": "Familial meningioma.; ",
"cross_references": "MeSH; D008579.",
"definition": "A common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare. ",
"keywords": null
},
{
"identifier": "Hepatic adenomas familial.",
"acronym": "HEPAF.",
"accession": "DI-02645",
"synonyms": "Familial liver cell adenomas.; HA.; Hepatocellular adenomas.; ",
"cross_references": "MeSH; D018248.",
"definition": "Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3). ",
"keywords": null
},
{
"identifier": "Hypercholesterolemia, familial, 2.",
"acronym": "FHCL2.",
"accession": "DI-01591",
"synonyms": "Familial ligand-defective apolipoprotein B-100.; FDB.; ",
"cross_references": "MeSH; D006938.",
"definition": "A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL2 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Lecithin-cholesterol acyltransferase deficiency.",
"acronym": "LCATD.",
"accession": "DI-00642",
"synonyms": "Familial LCAT deficiency.; FLD.; Lecithin:cholesterol acyltransferase deficiency.; Norum disease.; ",
"cross_references": "MeSH; D007863.",
"definition": "A disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish-eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. ",
"keywords": null
},
{
"identifier": "Nephronophthisis 1.",
"acronym": "NPHP1.",
"accession": "DI-00803",
"synonyms": "Familial juvenile nephronophthisis 1.; ",
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years. ",
"keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; "
},
{
"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, 1.",
"acronym": "ADTKD1.",
"accession": "DI-00493",
"synonyms": "Familial juvenile hyperuricemic nephropathy 1.; FJHN.; FJHN1.; Glomerulocystic kidney disease with hyperuricemia and isosthenuria.; Gouty nephropathy familial juvenile.; HNFJ1.; MCKD2.; Medullary cystic kidney disease 2.; Nephropathy familial with gout.; ",
"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": "Immunodeficiency 54.",
"acronym": "IMD54.",
"accession": "DI-03605",
"synonyms": "Familial isolated natural killer cell deficiency.; Natural killer cell and glucocorticoid deficiency with DNA repair defect.; NKCD.; NKGCD.; ",
"cross_references": "MeSH; D049914.",
"definition": "An autosomal recessive disorder characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer. ",
"keywords": null
},
{
"identifier": "Hyperparathyroidism 1.",
"acronym": "HRPT1.",
"accession": "DI-01589",
"synonyms": "Familial isolated hyperparathyroidism.; FIHP.; Hyperparathyroidism, familial, isolated, primary.; ",
"cross_references": "MeSH; D049950.",
"definition": "An autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid hyperplasia, adenomas, and carcinomas. ",
"keywords": null
},
{
"identifier": "Gastrointestinal defects and immunodeficiency syndrome 1.",
"acronym": "GIDID1.",
"accession": "DI-03733",
"synonyms": "Familial intestinal polyatresia syndrome.; FIPA.; Gastrointestinal defects and immunodeficiency syndrome.; GIDID.; Intestinal atresia, multiple.; Intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency.; MIA.; MINAT.; Multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency.; ",
"cross_references": "MeSH; D007409.",
"definition": "An autosomal recessive congenital disorder in which obstructions occur at various levels throughout the small and large intestines, ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency. ",
"keywords": null
},
{
"identifier": "Desmoid disease, hereditary.",
"acronym": "DESMD.",
"accession": "DI-01711",
"synonyms": "Familial infiltrative fibromatosis.; FIF.; ",
"cross_references": "MeSH; D018222.",
"definition": "An autosomal dominant disease characterized by multifocal fibromatosis of the abdominal wall and mesentery. Desmoid tumors can also affect paraspinal muscles, breast, occiput, arms, and lower ribs. ",
"keywords": null
},
{
"identifier": "Convulsions, familial infantile, with paroxysmal choreoathetosis.",
"acronym": "ICCA.",
"accession": "DI-03372",
"synonyms": "Familial infantile convulsions and paroxysmal choreoathetosis.; ICCA syndrome paroxysmal kinesigenic dyskinesia with infantile convulsions.; PKD/IC.; ",
"cross_references": "MeSH; D020936.",
"definition": "A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Hypomagnesemia 5, renal, with or without ocular involvement.",
"acronym": "HOMG5.",
"accession": "DI-00575",
"synonyms": "Familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement.; FHHNC with severe ocular involvement.; Hypomagnesemia 5.; Hypomagnesemia 5 renal with ocular involvement.; Hypomagnesemia renal with ocular involvement.; Macular coloboma bilateral with hypercalciuria.; ",
"cross_references": "MeSH; D053565.",
"definition": "A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. The renal phenotype is virtually undistinguishable from that of patients with HOMG3. ",
"keywords": "KW-0982:Primary hypomagnesemia.; "
},
{
"identifier": "Hypomagnesemia 3.",
"acronym": "HOMG3.",
"accession": "DI-00578",
"synonyms": "Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.; FHHNC.; HHN.; Renal hypomagnesemia hypercalciuria nephrocalcinosis.; ",
"cross_references": "MeSH; D053565.",
"definition": "A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis. Recurrent urinary tract infections and kidney stones are often observed. In spite of hypercalciuria, patients do not show hypocalcemia. ",
"keywords": "KW-0982:Primary hypomagnesemia.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 6.",
"acronym": "CMH6.",
"accession": "DI-00245",
"synonyms": "Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome.; ",
"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. CMH6 patients present Wolff-Parkinson-White ventricular preexcitation, enlarged myocytes without myofiber disarray, and glycogen-containing cytosolic vacuoles within cardiomyocytes. ",
"keywords": "KW-0122:Cardiomyopathy.; "
}
]
}