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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=740&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=700&ordering=-synonyms",
"results": [
{
"identifier": "Bulimia nervosa 2.",
"acronym": "BULN2.",
"accession": "DI-04567",
"synonyms": null,
"cross_references": "MeSH; D052018.",
"definition": "A psychiatric disorder characterized by eating an unusually large amount of food in a short period of time, followed by inappropriate acts (purging) to avert weight gain. Compensatory behavior includes self-induced vomiting, laxative abuse, and excessive exercise. ",
"keywords": null
},
{
"identifier": "Buratti-Harel syndrome.",
"acronym": "BURHAS.",
"accession": "DI-06101",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by hypotonia apparent in early infancy, global developmental delay, delayed walking, language and speech delay, impaired intellectual development, and dysmorphic facial features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 14.",
"acronym": "ARVD14.",
"accession": "DI-05863",
"synonyms": null,
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 6.",
"acronym": "PFIC6.",
"accession": "DI-06201",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC6 patients have elevated liver transaminases and congenital diarrhea. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Alopecia-intellectual disability syndrome 4.",
"acronym": "APMR4.",
"accession": "DI-05812",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by alopecia universalis, scaly skin, mild to severe intellectual disability, delayed or absent speech, and motor delay. ",
"keywords": "KW-0991:Intellectual disability.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 32.",
"acronym": "COXPD32.",
"accession": "DI-05097",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder due to deficiency of mitochondrial respiratory chain complexes, I, III and IV, and characterized by delayed psychomotor development and neurodevelopmental regression. Additional variable symptoms include poor or absent speech, inability to walk, and abnormal movements. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Alpha-1-antitrypsin deficiency.",
"acronym": "A1ATD.",
"accession": "DI-02928",
"synonyms": null,
"cross_references": "MeSH; D019896.",
"definition": "A disorder whose most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1D.",
"acronym": "CMD1D.",
"accession": "DI-00213",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "CHARGE syndrome.",
"acronym": "CHARGES.",
"accession": "DI-01338",
"synonyms": null,
"cross_references": "MedGen; C0265354.",
"definition": "Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. ",
"keywords": null
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 2.",
"acronym": "PFIC2.",
"accession": "DI-00950",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC2 inheritance is autosomal recessive. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Acromicric dysplasia.",
"acronym": "ACMICD.",
"accession": "DI-03225",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well- defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 34.",
"acronym": "COXPD34.",
"accession": "DI-05192",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder caused by mitochondrial dysfunction and combined respiratory chain deficiencies of complexes I, III and IV. Clinical manifestations are variable and include congenital sensorineural deafness, lactic acidemia, and progressive hepatic and renal failure. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Calcification of joints and arteries.",
"acronym": "CALJA.",
"accession": "DI-03016",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A condition characterized by adult-onset calcification of the lower extremity arteries, including the iliac, femoral and tibial arteries, and hand and foot capsule joints. Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 9.",
"acronym": "COXPD9.",
"accession": "DI-03428",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia.",
"acronym": "CDLSMD.",
"accession": "DI-05601",
"synonyms": null,
"cross_references": "MeSH; D001847.",
"definition": "A severe form of calvarial doughnut lesions with bone fragility, a rare autosomal dominant disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. CDLSMD patients show neonatal onset of fractures, severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia. ",
"keywords": null
},
{
"identifier": "Arterial calcification of infancy, generalized, 2.",
"acronym": "GACI2.",
"accession": "DI-03382",
"synonyms": null,
"cross_references": "MeSH; D061205.",
"definition": "A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. ",
"keywords": null
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 5.",
"acronym": "PFIC5.",
"accession": "DI-04774",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC5 is an autosomal recessive, severe form characterized by onset of intralobular cholestasis in the neonatal period. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cardiac valvular dysplasia 2.",
"acronym": "CVDP2.",
"accession": "DI-06519",
"synonyms": null,
"cross_references": "MeSH; D006349.",
"definition": "An autosomal recessive form of congenital heart defects, characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients. ",
"keywords": null
},
{
"identifier": "Alpha-fetoprotein deficiency.",
"acronym": "AFPD.",
"accession": "DI-04204",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "A benign condition characterized by undetectable AFP levels in the amniotic fluid. Affected individuals are asymptomatic and present normal development. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal recessive, 26.",
"acronym": "DFNB26.",
"accession": "DI-05262",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural deafness characterized by prelingual, severe to profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
}
]
}