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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3900",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3860",
"results": [
{
"identifier": "Malan syndrome.",
"acronym": "MALNS.",
"accession": "DI-03506",
"synonyms": "Malan overgrowth syndrome.; SOTOS2.; Sotos syndrome 2.; ",
"cross_references": "MeSH; D058495.",
"definition": "An autosomal dominant syndrome characterized by overgrowth, advanced bone age, macrocephaly, impaired intellectual development, behavior anomalies, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly. ",
"keywords": null
},
{
"identifier": "Mal de Meleda.",
"acronym": "MDM.",
"accession": "DI-00698",
"synonyms": "Keratosis palmoplantaris transgradiens of Siemens.; Meleda disease.; ",
"cross_references": "MeSH; D007645.",
"definition": "A rare autosomal recessive skin disorder, characterized by diffuse transgressive palmoplantar keratoderma with keratotic lesions extending onto the dorsa of the hands and the feet (transgrediens). Patients may have hyperhidrosis. Other features include perioral erythema, lichenoid plaques on the knees and the elbows, and nail abnormalities. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Male pseudohermaphrodism with gynecomastia.",
"acronym": "MPH.",
"accession": "DI-01928",
"synonyms": "17-beta hydroxysteroid dehydrogenase III deficiency.; 17-ketosteroid reductase deficiency of testis.; 17-KSR deficiency.; Neutral 17-beta-hydroxysteroid oxidoreductase deficiency.; Pseudohermaphroditism, male, with gynecomastia.; ",
"cross_references": "MeSH; D058490.",
"definition": "An autosomal recessive disorder that manifests, in males, as undermasculinization characterized by hypoplastic-to-normal internal genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory ducts) but female external genitalia and the absence of a prostate. This phenotype is caused by inadequate testicular synthesis of testosterone, which, in turn, results in insufficient formation of dihydrotestosterone in the anlage of the external genitalia and prostate during fetal development. At the expected time of puberty, there is a marked increase in plasma leuteinizing hormone and, consequently, in testicular secretion of androstenedione. Hence, a diagnostic hallmark of this disorder is a decreased plasma testosterone-to-androstenedione ratio. Significant amounts of the circulating androstenedione are, however, converted to testosterone, in peripheral tissues, thereby causing virilization. ",
"keywords": null
},
{
"identifier": "Maleylacetoacetate isomerase deficiency.",
"acronym": "MAAID.",
"accession": "DI-05047",
"synonyms": "Benign hypersuccinylacetonemia.; BHSA.; Hypersuccinylacetonemia, mild.; MAAI deficiency.; MHSA.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive inborn error of metabolism characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. Liver function and coagulation are normal. MAAID is a benign disorder. ",
"keywords": null
},
{
"identifier": "Malignant hyperthermia 1.",
"acronym": "MHS1.",
"accession": "DI-01929",
"synonyms": "Hyperpyrexia, malignant.; Hyperthermia of anesthesia.; MH.; ",
"cross_references": "MeSH; D008305.",
"definition": "Autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia. In susceptible people, an MH episode can be triggered by all commonly used inhalational anesthetics such as halothane and by depolarizing muscle relaxants such as succinylcholine. The clinical features of the myopathy are hyperthermia, accelerated muscle metabolism, contractures, metabolic acidosis, tachycardia and death, if not treated with the postsynaptic muscle relaxant, dantrolene. Susceptibility to MH can be determined with the 'in vitro' contracture test (IVCT): observing the magnitude of contractures induced in strips of muscle tissue by caffeine alone and halothane alone. Patients with normal response are MH normal (MHN), those with abnormal response to caffeine alone or halothane alone are MH equivocal (MHE(C) and MHE(H) respectively). ",
"keywords": null
},
{
"identifier": "Malignant hyperthermia 5.",
"acronym": "MHS5.",
"accession": "DI-01930",
"synonyms": null,
"cross_references": "MedGen; C2930984.",
"definition": "Autosomal dominant disorder that is potentially lethal in susceptible individuals on exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants. ",
"keywords": null
},
{
"identifier": "Malonyl-CoA decarboxylase deficiency.",
"acronym": "MLYCD deficiency.",
"accession": "DI-01931",
"synonyms": null,
"cross_references": "MedGen; C0342793.",
"definition": "Autosomal recessive disease characterized by abdominal pain, chronic constipation, episodic vomiting, metabolic acidosis and malonic aciduria. ",
"keywords": null
},
{
"identifier": "Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.",
"acronym": "MDPL.",
"accession": "DI-03863",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, metabolic abnormalities including insulin resistance and diabetes mellitus, sclerodermatous skin, and a facial appearance characterized by mandibular hypoplasia. Sensorineural deafness occurs late in the first or second decades of life. ",
"keywords": null
},
{
"identifier": "Mandibuloacral dysplasia progeroid syndrome.",
"acronym": "MDPS.",
"accession": "DI-05993",
"synonyms": null,
"cross_references": "MeSH; D030981.",
"definition": "A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MDPS is an autosomal recessive disorder. Clinical features include poor growth, osteoporosis, osteopenia, acroosteolysis of distal phalanges, arterial calcification, renal glomerulosclerosis and severe hypertension. ",
"keywords": "KW-1285:Osteoporosis.; "
},
{
"identifier": "Mandibuloacral dysplasia with type A lipodystrophy.",
"acronym": "MADA.",
"accession": "DI-01932",
"synonyms": "Craniomandibular dermatodysostosis.; Lipodystrophy type A associated with mandibuloacral dysplasia.; Mandibuloacral dysplasia with type A lipodystrophy atypical.; Tendinous calcinosis arthropathy and progeroid features.; ",
"cross_references": "MeSH; D030981.",
"definition": "A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MADA is an autosomal recessive disease characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased. ",
"keywords": null
},
{
"identifier": "Mandibuloacral dysplasia with type B lipodystrophy.",
"acronym": "MADB.",
"accession": "DI-01933",
"synonyms": "Lipodystrophy type B associated with mandibuloacral dysplasia.; ",
"cross_references": "MeSH; D030981.",
"definition": "A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MADB is a disease characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and generalized lipodystrophy with loss of subcutaneous fat from the extremities, face, neck and trunk. ",
"keywords": null
},
{
"identifier": "Mandibulofacial dysostosis with alopecia.",
"acronym": "MFDA.",
"accession": "DI-04426",
"synonyms": null,
"cross_references": "MeSH; D008342.",
"definition": "A form of mandibulofacial dysostosis, a disorder characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. MFDA features include maxillary dysmorphism with dysplastic zygomatic arch, hypoplastic mandible, scalp alopecia, scant eyebrows and eyelashes, severe hypoplasia or aplasia of eyelids, small cupped dysplastic ears, conductive hearing loss, cleft palate, dental anomalies, micrognathia, and limited jaw mobility. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Mandibulofacial dysostosis with microcephaly.",
"acronym": "MFDM.",
"accession": "DI-03414",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Manitoba oculotrichoanal syndrome.",
"acronym": "MOTA.",
"accession": "DI-03215",
"synonyms": "Marles syndrome.; ",
"cross_references": "MeSH; D005124.",
"definition": "A rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. ",
"keywords": null
},
{
"identifier": "Mannosidosis, alpha B, lysosomal.",
"acronym": "MANSA.",
"accession": "DI-01921",
"synonyms": "Alpha-mannosidase B deficiency.; Alpha-mannosidosis.; Alpha-mannosidosis types I and II.; Lysosomal alpha-D-mannosidase deficiency.; ",
"cross_references": "MeSH; D008363.",
"definition": "A lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with intellectual disability, recurrent infections, impaired hearing and Hurler-like skeletal changes being the most consistent abnormalities. ",
"keywords": null
},
{
"identifier": "Mannosidosis, beta A, lysosomal.",
"acronym": "MANSB.",
"accession": "DI-01922",
"synonyms": "Beta-mannosidase deficiency.; Beta-mannosidosis.; Lysosomal beta-mannosidase deficiency.; ",
"cross_references": "MeSH; D044905.",
"definition": "An autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of intellectual disability in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta A mannosidase activity in plasma, fibroblasts and leukocytes. ",
"keywords": null
},
{
"identifier": "Maple syrup urine disease 1A.",
"acronym": "MSUD1A.",
"accession": "DI-01936",
"synonyms": "BCKD deficiency.; Branched-chain alpha-keto acid dehydrogenase deficiency.; Branched-chain ketoaciduria.; Classic maple syrup urine disease.; Intermediate maple syrup urine disease.; Intermittent maple syrup urine disease.; Keto acid decarboxylase deficiency.; Maple syrup urine disease type IA.; MSUD type IA.; Thiamine-responsive maple syrup urine disease.; ",
"cross_references": "MeSH; D008375.",
"definition": "A form of maple syrup urine disease, an autosomal recessive metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched- chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. ",
"keywords": null
},
{
"identifier": "Maple syrup urine disease 1B.",
"acronym": "MSUD1B.",
"accession": "DI-01937",
"synonyms": "Maple syrup urine disease type IB.; MSUD type IB.; ",
"cross_references": "MeSH; D008375.",
"definition": "A form of maple syrup urine disease, an autosomal recessive metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched- chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. ",
"keywords": null
},
{
"identifier": "Maple syrup urine disease 2.",
"acronym": "MSUD2.",
"accession": "DI-01935",
"synonyms": "Maple syrup urine disease type II.; MSUD type II.; ",
"cross_references": "MeSH; D008375.",
"definition": "A form of maple syrup urine disease, an autosomal recessive metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched- chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. ",
"keywords": null
},
{
"identifier": "Maple syrup urine disease, mild variant.",
"acronym": "MSUDMV.",
"accession": "DI-03756",
"synonyms": null,
"cross_references": "MeSH; D008375.",
"definition": "A mild form of maple syrup urine disease, a metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. MSUDMV is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes. ",
"keywords": null
}
]
}