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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2740&ordering=synonyms",
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"results": [
{
"identifier": "Mitral valve prolapse 3.",
"acronym": "MVP3.",
"accession": "DI-05973",
"synonyms": "Mitral valve prolapse, myxomatous 3.; MMVP3.; Myxomatous mitral valve prolapse 3.; ",
"cross_references": "MeSH; D008945.",
"definition": "An autosomal dominant form of mitral valve prolapse, a valvular heart disease characterized by abnormally elongated and thickened mitral valve leaflets, that typically show myxomatous degeneration with increased leaflet compliance. It is associated with mitral regurgitation. Myxomatous mitral valves have an abnormal layered architecture characterized by loose collagen in fibrosa, expanded spongiosa strongly positive for proteoglycans, and disrupted elastin in atrialis. In classic mitral valve prolapse, leaflets are at least 5 mm thick, whereas in the non-classic form, they are less than 5 mm thick. Severe classic mitral valve prolapse is strongly associated with arrhythmias, endocarditis, heart failure, and need for valve surgery. ",
"keywords": null
},
{
"identifier": "Miyoshi muscular dystrophy 3.",
"acronym": "MMD3.",
"accession": "DI-02704",
"synonyms": "Miyoshi myopathy 3.; ",
"cross_references": "MeSH; D049310.",
"definition": "A late-onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric. ",
"keywords": null
},
{
"identifier": "Miyoshi muscular dystrophy 1.",
"acronym": "MMD1.",
"accession": "DI-01987",
"synonyms": "Miyoshi myopathy.; Muscular dystrophy distal late-onset autosomal recessive.; ",
"cross_references": "MeSH; D049310.",
"definition": "A late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood. ",
"keywords": null
},
{
"identifier": "Mucolipidosis 4.",
"acronym": "ML4.",
"accession": "DI-01998",
"synonyms": "MLIV.; Mucolipidosis IV.; Mucolipidosis type IV.; Sialolipidosis.; ",
"cross_references": "MeSH; D009081.",
"definition": "An autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels. ",
"keywords": "KW-0942:Mucolipidosis.; "
},
{
"identifier": "Multiple mitochondrial dysfunctions syndrome 1.",
"acronym": "MMDS1.",
"accession": "DI-03293",
"synonyms": "MMDS.; ",
"cross_references": "MeSH; D028361.",
"definition": "A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2- oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. ",
"keywords": null
},
{
"identifier": "Methylmalonate semialdehyde dehydrogenase deficiency.",
"acronym": "MMSDHD.",
"accession": "DI-01973",
"synonyms": "MMSDH deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "A metabolic disorder characterized by elevated beta-alanine, 3- hydroxypropionic acid, and both isomers of 3-amino and 3- hydroxyisobutyric acids in urine organic acids. ",
"keywords": null
},
{
"identifier": "Morbid obesity and spermatogenic failure.",
"acronym": "MOSPGF.",
"accession": "DI-04042",
"synonyms": "MO1 syndrome.; ",
"cross_references": "MeSH; D009767.",
"definition": "An autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40. ",
"keywords": "KW-0550:Obesity.; "
},
{
"identifier": "Maturity-onset diabetes of the young 10.",
"acronym": "MODY10.",
"accession": "DI-02786",
"synonyms": "MODY-10.; MODY type 10.; ",
"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 11.",
"acronym": "MODY11.",
"accession": "DI-02787",
"synonyms": "MODY-11.; MODY type 11.; ",
"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 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": "Orofaciodigital syndrome 2.",
"acronym": "OFD2.",
"accession": "DI-06854",
"synonyms": "Mohr syndrome.; OFDS II.; Oral-facial-digital syndrome II.; Orofaciodigital syndrome II.; ",
"cross_references": "MeSH; D009958.",
"definition": "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD2 is an autosomal recessive form characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies, maxillary hypoplasia, conductive hearing loss, polydactyly, syndactyly, brachydactyly, and mesomelic lower limb shortening. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Molybdenum cofactor deficiency B.",
"acronym": "MOCODB.",
"accession": "DI-01990",
"synonyms": "Molybdenum cofactor deficiency, complementation group B.; Molybdenum cofactor deficiency, type B.; ",
"cross_references": "MeSH; D008664.",
"definition": "An autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood. ",
"keywords": null
},
{
"identifier": "Molybdenum cofactor deficiency C.",
"acronym": "MOCODC.",
"accession": "DI-01991",
"synonyms": "Molybdenum cofactor deficiency, complementation group C.; Molybdenum cofactor deficiency, type C.; ",
"cross_references": "MeSH; D008664.",
"definition": "A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. ",
"keywords": null
},
{
"identifier": "Leptin receptor deficiency.",
"acronym": "LEPRD.",
"accession": "DI-03638",
"synonyms": "Morbid obesity.; Morbid obesity due to leptin receptor deficiency.; ",
"cross_references": "MeSH; D009767.",
"definition": "A rare disease characterized by normal levels of serum leptin, hyperphagia and severe obesity from an early age. Additional features include alterations in immune function, and delayed puberty due to hypogonadotropic hypogonadism. ",
"keywords": "KW-0550:Obesity.; "
},
{
"identifier": "Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis.",
"acronym": "MORMS.",
"accession": "DI-02533",
"synonyms": "MORM syndrome.; ",
"cross_references": "MeSH; D058499.",
"definition": "An autosomal recessive disorder characterized by moderate intellectual disability, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies. ",
"keywords": "KW-0550:Obesity.; KW-0991:Intellectual disability.; "
}
]
}