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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1060",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1020",
"results": [
{
"identifier": "Chilton-Okur-Chung neurodevelopmental syndrome.",
"acronym": "CHOCNS.",
"accession": "DI-06399",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A disorder characterized by developmental delay, intellectual disability, hypotonia, and structural brain abnormalities including cerebellar vermis hypoplasia and agenesis or hypoplasia of the corpus callosum. Most patients have behavioral abnormalities, including autism spectrum disorder, attention deficit and hyperactivity disorder, and aggression. About half of patients have dysmorphic facial features. Rare involvement of other organ systems may be present. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Chitayat syndrome.",
"acronym": "CHYTS.",
"accession": "DI-04884",
"synonyms": null,
"cross_references": "MeSH; D055091.",
"definition": "An autosomal dominant syndrome characterized by hyperphalangism, partial syndactyly, bilateral accessory phalanx resulting in shortened index fingers, hallux valgus, brachydactyly, facial anomalies, diffuse bronchomalacia, and respiratory distress at birth and in infancy. ",
"keywords": null
},
{
"identifier": "Choanal atresia and lymphedema.",
"acronym": "CATLPH.",
"accession": "DI-03023",
"synonyms": null,
"cross_references": "MeSH; D008209.",
"definition": "A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum. ",
"keywords": null
},
{
"identifier": "Cholestasis, benign recurrent intrahepatic, 1.",
"acronym": "BRIC1.",
"accession": "DI-00185",
"synonyms": "Recurrent familial intrahepatic cholestasis.; Summerskill syndrome.; ",
"cross_references": "MeSH; D002780.",
"definition": "A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis, benign recurrent intrahepatic, 2.",
"acronym": "BRIC2.",
"accession": "DI-00186",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis, neonatal intrahepatic, caused by citrin deficiency.",
"acronym": "NICCD.",
"accession": "DI-00799",
"synonyms": "Citrin deficiency.; Citrullinemia, type II, neonatal-onset.; Citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia.; Neonatal-onset citrullinemia type 2.; Neonatal-onset citrullinemia type II.; ",
"cross_references": "MeSH; D002780.",
"definition": "A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis of pregnancy, intrahepatic 1.",
"acronym": "ICP1.",
"accession": "DI-00600",
"synonyms": "Obstetric cholestasis.; Pregnancy-related cholestasis.; Recurrent intrahepatic cholestasis of pregnancy.; ",
"cross_references": "MeSH; D002780.",
"definition": "A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ICP1 causes fetal distress, spontaneous premature delivery and intrauterine death. ICP1 patients have spontaneous and progressive disappearance of cholestasis after delivery. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis of pregnancy, intrahepatic 3.",
"acronym": "ICP3.",
"accession": "DI-03634",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. It causes fetal distress, spontaneous premature delivery and intrauterine death. Patients have spontaneous and progressive disappearance of cholestasis after delivery. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 1.",
"acronym": "PFIC1.",
"accession": "DI-00949",
"synonyms": "Byler disease.; Fatal intrahepatic cholestasis.; ",
"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. PFIC1 inheritance is autosomal recessive. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 10.",
"acronym": "PFIC10.",
"accession": "DI-06418",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "A form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC10 is an autosomal recessive form with highly variable phenotype and severity, manifesting in the first months or years of life. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 11.",
"acronym": "PFIC11.",
"accession": "DI-06419",
"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. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 12.",
"acronym": "PFIC12.",
"accession": "DI-06487",
"synonyms": "Cholestasis, isolated low -GGT.; ",
"cross_references": "MeSH; D002780.",
"definition": "A form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC12 is an autosomal recessive form characterized by neonatal-onset jaundice and conjugated hyperbilirubinemia, associated with intense pruritus. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"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": "Cholestasis, progressive familial intrahepatic, 3.",
"acronym": "PFIC3.",
"accession": "DI-00951",
"synonyms": "MDR3 deficiency.; Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase.; ",
"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. PFIC3 inheritance is autosomal recessive. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 4.",
"acronym": "PFIC4.",
"accession": "DI-04152",
"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. PFIC4 inheritance is autosomal recessive. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"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": "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": "Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss.",
"acronym": "PFIC7.",
"accession": "DI-06293",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"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. Some PFIC7 patients develop hearing loss in childhood. ",
"keywords": "KW-0209:Deafness.; KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 8.",
"acronym": "PFIC8.",
"accession": "DI-06294",
"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. PFIC8 onset is in early infancy. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 9.",
"acronym": "PFIC9.",
"accession": "DI-06404",
"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. PFIC9 onset is in infancy or early childhood. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; KW-1186:Ciliopathy.; "
}
]
}