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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5180&ordering=-synonyms",
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"results": [
{
"identifier": "Microvascular complications of diabetes 3.",
"acronym": "MVCD3.",
"accession": "DI-02756",
"synonyms": "Diabetic end-stage renal disease.; Diabetic nephropathy.; ",
"cross_references": "MeSH; D048909.",
"definition": "Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. ",
"keywords": null
},
{
"identifier": "Mitchell-Riley syndrome.",
"acronym": "MTCHRS.",
"accession": "DI-02515",
"synonyms": "Diabetes neonatal with pancreatic hypoplasia intestinal atresia and gallbladder aplasia or hypoplasia.; ",
"cross_references": "MeSH; D004066.",
"definition": "A disorder characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder. There is no dysmorphic features. ",
"keywords": null
},
{
"identifier": "Type 2 diabetes mellitus 5.",
"acronym": "T2D5.",
"accession": "DI-04265",
"synonyms": "Diabetes mellitus, non-insulin-dependent, 5.; NIDDM5.; ",
"cross_references": "MeSH; D003924.",
"definition": "A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Type 2 diabetes mellitus 1.",
"acronym": "T2D1.",
"accession": "DI-02781",
"synonyms": "Diabetes mellitus, non-insulin-dependent, 1.; NIDDM1.; ",
"cross_references": "MeSH; D003924.",
"definition": "A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results 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": "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 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 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 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": "Pancreatic and cerebellar agenesis.",
"acronym": "PACA.",
"accession": "DI-01484",
"synonyms": "Diabetes mellitus and cerebellar hypoplasia/agenesis.; Permanent neonatal diabetes mellitus with cerebellar agenesis.; ",
"cross_references": "MeSH; D003920.",
"definition": "A disease characterized by neonatal diabetes mellitus, cerebellar agenesis or hypoplasia, severe intrauterine growth retardation, the presence of very little subcutaneous fat, and dysmorphic facial features. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Diabetes insipidus, nephrogenic, 2, autosomal.",
"acronym": "NDI2.",
"accession": "DI-00390",
"synonyms": "Diabetes insipidus nephrogenic type 2.; ",
"cross_references": "MeSH; D018500.",
"definition": "A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive. ",
"keywords": "KW-0218:Diabetes insipidus.; "
},
{
"identifier": "Diabetes insipidus, nephrogenic, 1, X-linked.",
"acronym": "NDI1.",
"accession": "DI-00391",
"synonyms": "Diabetes insipidus nephrogenic type 1.; NDI.; ",
"cross_references": "MeSH; D018500.",
"definition": "A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. ",
"keywords": "KW-0218:Diabetes insipidus.; "
},
{
"identifier": "Wolfram syndrome 1.",
"acronym": "WFS1.",
"accession": "DI-01151",
"synonyms": "Diabetes insipidus and mellitus with optic atrophy and deafness syndrome.; DIDMOAD.; WFS.; ",
"cross_references": "MeSH; D014929.",
"definition": "A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. ",
"keywords": "KW-0209:Deafness.; KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Maturity-onset diabetes of the young 8 with exocrine dysfunction.",
"acronym": "MODY8.",
"accession": "DI-01949",
"synonyms": "Diabetes and pancreatic exocrine dysfunction syndrome.; DPED.; MODY-8.; MODY type 8.; ",
"cross_references": "MeSH; D003924.",
"definition": "An autosomal dominant form of diabetes characterized by a primary defect in insulin secretion, exocrine pancreatic dysfunction, altered pancreatic morphology, recurrent abdominal pain, and fecal elastase deficiency. Disease onset is at less than 25 years of age. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Hyperphenylalaninemia, BH4-deficient, C.",
"acronym": "HPABH4C.",
"accession": "DI-01278",
"synonyms": "DHPR deficiency.; Dihydropteridine reductase deficiency.; Hyperphenylalaninemia tetrahydrobiopterin-deficient due to DHPR deficiency.; QDPR deficiency.; Quinoid dihydropteridine reductase deficiency.; ",
"cross_references": "MeSH; D010661.",
"definition": "Rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. Patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 18.",
"acronym": "CMYP18.",
"accession": "DI-06613",
"synonyms": "DHPR congenital myopathy.; DHPRM.; Dihydropyridine receptor congenital myopathy.; Myopathy, congenital, due to dihydropyridine receptor defect.; ",
"cross_references": "MeSH; D020512.",
"definition": "A congenital myopathy of variable severity, ranging from severe fetal akinesia to milder forms of muscle weakness. Most affected individuals show delayed motor development with generalized hypotonia and progressive axial and limb muscle weakness beginning soon after birth or in infancy. Additional features may include swallowing difficulties, external ophthalmoplegia, ptosis, high-arched palate, and respiratory insufficiency. Muscle biopsy shows variable morphologic abnormalities, including alveolar changes in the intermyofibrillar network, fiber size variability, focal disorganization, internal nuclei, and dilated sarcoplasmic reticulum and T-tubules. CMYP18 inheritance is autosomal dominant or recessive. ",
"keywords": null
},
{
"identifier": "Focal dermal hypoplasia.",
"acronym": "FODH.",
"accession": "DI-01619",
"synonyms": "DHOF.; FDH.; Goltz Gorlin syndrome.; Goltz-Gorlin syndrome.; Goltz syndrome.; ",
"cross_references": "MeSH; D005489.",
"definition": "A rare congenital ectomesodermal disorder characterized by a combination of skin defects, skeletal abnormalities, and ocular anomalies. Affected individuals have patchy dermal hypoplasia, often in a distribution pattern following the Blaschko lines, and areas of subcutaneous fat herniation or deposition of fat into the dermis. In addition, sparse and brittle hair, hypoplastic nails and papillomas have been described. Skeletal abnormalities usually comprise syndactyly, ectrodactyly, and brachydactyly, and in some cases osteopathia striata has been seen. Patients frequently have ocular anomalies, including microphthalmia/ anophthalmia, coloboma, pigmentary and vascularization defects of the retina. Dental abnormalities are often present. ",
"keywords": null
}
]
}