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"results": [
{
"identifier": "Maturity-onset diabetes of the young 13.",
"acronym": "MODY13.",
"accession": "DI-04404",
"synonyms": "Maturity-onset diabetes of the young, type 13.; MODY type 13.; ",
"cross_references": "MeSH; D003924.",
"definition": "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Maturity-onset diabetes of the young 14.",
"acronym": "MODY14.",
"accession": "DI-04501",
"synonyms": "Maturity-onset diabetes of the young, type 14.; ",
"cross_references": "MeSH; D003924.",
"definition": "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Maturity-onset diabetes of the young 2.",
"acronym": "MODY2.",
"accession": "DI-01944",
"synonyms": "MODY-2.; MODY glucokinase-related.; MODY type 2.; ",
"cross_references": "MeSH; D003924.",
"definition": "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Maturity-onset diabetes of the young 3.",
"acronym": "MODY3.",
"accession": "DI-01945",
"synonyms": "MODY-3.; MODY type 3.; ",
"cross_references": "MeSH; D003924.",
"definition": "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Maturity-onset diabetes of the young 4.",
"acronym": "MODY4.",
"accession": "DI-01946",
"synonyms": "MODY-4.; MODY type 4.; ",
"cross_references": "MeSH; D003924.",
"definition": "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Maturity-onset diabetes of the young 6.",
"acronym": "MODY6.",
"accession": "DI-01947",
"synonyms": "MODY-6.; MODY type 6.; ",
"cross_references": "MeSH; D003924.",
"definition": "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Maturity-onset diabetes of the young 7.",
"acronym": "MODY7.",
"accession": "DI-01948",
"synonyms": "MODY-7.; MODY type 7.; ",
"cross_references": "MeSH; D003924.",
"definition": "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ",
"keywords": "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": "Maturity-onset diabetes of the young 9.",
"acronym": "MODY9.",
"accession": "DI-01950",
"synonyms": "MODY-9.; MODY type 9.; ",
"cross_references": "MeSH; D003924.",
"definition": "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "McCune-Albright syndrome.",
"acronym": "MAS.",
"accession": "DI-01952",
"synonyms": null,
"cross_references": "MedGen; C0242292.",
"definition": "Characterized by polyostotic fibrous dysplasia, cafe-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and hyperprolactinemia. The mutations producing MAS lead to constitutive activation of GS alpha. ",
"keywords": null
},
{
"identifier": "McKusick-Kaufman syndrome.",
"acronym": "MKKS.",
"accession": "DI-01953",
"synonyms": null,
"cross_references": "MedGen; C0948368.",
"definition": "Autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects. ",
"keywords": null
},
{
"identifier": "McLeod syndrome.",
"acronym": "MCLDS.",
"accession": "DI-01954",
"synonyms": "McLeod phenotype.; McLeod syndrome with chronic granulomatous disease.; Neuroacanthocytosis McLeod type.; ",
"cross_references": "MeSH; D054546.",
"definition": "A multisystem disorder characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy. ",
"keywords": null
},
{
"identifier": "Meacham syndrome.",
"acronym": "MEACHS.",
"accession": "DI-01955",
"synonyms": null,
"cross_references": "MedGen; C1837026.",
"definition": "Rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic abnormalities. ",
"keywords": null
},
{
"identifier": "Meckel syndrome 1.",
"acronym": "MKS1.",
"accession": "DI-00700",
"synonyms": "Dysencephalia splanchnocystica.; Gruber syndrome.; Meckel-Gruber syndrome.; MES.; ",
"cross_references": "MeSH; D007690.",
"definition": "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. ",
"keywords": "KW-0981:Meckel syndrome.; "
},
{
"identifier": "Meckel syndrome 10.",
"acronym": "MKS10.",
"accession": "DI-03233",
"synonyms": null,
"cross_references": "MeSH; D007690.",
"definition": "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. ",
"keywords": "KW-0981:Meckel syndrome.; "
},
{
"identifier": "Meckel syndrome 11.",
"acronym": "MKS11.",
"accession": "DI-03873",
"synonyms": null,
"cross_references": "MeSH; D007690.",
"definition": "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. ",
"keywords": "KW-0981:Meckel syndrome.; "
},
{
"identifier": "Meckel syndrome 12.",
"acronym": "MKS12.",
"accession": "DI-04349",
"synonyms": null,
"cross_references": "MeSH; D007690.",
"definition": "A form of Meckel syndrome, a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. ",
"keywords": "KW-0981:Meckel syndrome.; "
},
{
"identifier": "Meckel syndrome 13.",
"acronym": "MKS13.",
"accession": "DI-05035",
"synonyms": null,
"cross_references": "MeSH; D007690.",
"definition": "A form of Meckel syndrome, a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. ",
"keywords": "KW-0981:Meckel syndrome.; "
},
{
"identifier": "Meckel syndrome 14.",
"acronym": "MKS14.",
"accession": "DI-06429",
"synonyms": null,
"cross_references": "MeSH; D007690.",
"definition": "A form of Meckel syndrome, an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Death occurs in the prenatal or perinatal period. ",
"keywords": "KW-0981:Meckel syndrome.; "
},
{
"identifier": "Meckel syndrome 2.",
"acronym": "MKS2.",
"accession": "DI-02862",
"synonyms": null,
"cross_references": "MeSH; D007690.",
"definition": "A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. ",
"keywords": "KW-0981:Meckel syndrome.; "
}
]
}