{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5880&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5840&ordering=identifier","results":[{"identifier":"Short/branched-chain acyl-CoA dehydrogenase deficiency.","acronym":"SBCADD.","accession":"DI-02302","synonyms":"2-methylbutyryl-CoA dehydrogenase deficiency.; 2-methylbutyryl glycinuria.; ","cross_references":"MedGen; C1864912.","definition":"Autosomal recessive disorder and consists of a defect in catabolism of L-isoleucine which is characterized by an increase of 2- methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine. Affected individuals have seizures and psychomotor delay as the main clinical features. ","keywords":null},{"identifier":"Short QT syndrome 1.","acronym":"SQT1.","accession":"DI-01024","synonyms":null,"cross_references":"MeSH; D001145.","definition":"A form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death. ","keywords":"KW-0940:Short QT syndrome.; "},{"identifier":"Short QT syndrome 2.","acronym":"SQT2.","accession":"DI-01025","synonyms":null,"cross_references":"MeSH; D001145.","definition":"An autosomal dominant form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death. ","keywords":"KW-0940:Short QT syndrome.; "},{"identifier":"Short QT syndrome 3.","acronym":"SQT3.","accession":"DI-01026","synonyms":null,"cross_references":"MeSH; D001145.","definition":"A form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death. SQT3 has a unique ECG phenotype characterized by asymmetrical T waves. ","keywords":"KW-0940:Short QT syndrome.; "},{"identifier":"Short QT syndrome 7.","acronym":"SQT7.","accession":"DI-06598","synonyms":null,"cross_references":"MeSH; D001145.","definition":"An autosomal dominant form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death. ","keywords":"KW-0940:Short QT syndrome.; "},{"identifier":"Short-rib thoracic dysplasia 10 with or without polydactyly.","acronym":"SRTD10.","accession":"DI-04035","synonyms":null,"cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short-rib thoracic dysplasia 11 with or without polydactyly.","acronym":"SRTD11.","accession":"DI-04036","synonyms":null,"cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short-rib thoracic dysplasia 13 with or without polydactyly.","acronym":"SRTD13.","accession":"DI-04389","synonyms":null,"cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short-rib thoracic dysplasia 14 with polydactyly.","acronym":"SRTD14.","accession":"DI-04524","synonyms":null,"cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short-rib thoracic dysplasia 15 with polydactyly.","acronym":"SRTD15.","accession":"DI-04792","synonyms":null,"cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short-rib thoracic dysplasia 16 with or without polydactyly.","acronym":"SRTD16.","accession":"DI-04794","synonyms":null,"cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short-rib thoracic dysplasia 17 with or without polydactyly.","acronym":"SRTD17.","accession":"DI-04957","synonyms":null,"cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short-rib thoracic dysplasia 18 with polydactyly.","acronym":"SRTD18.","accession":"DI-05191","synonyms":null,"cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short-rib thoracic dysplasia 19 with or without polydactyly.","acronym":"SRTD19.","accession":"DI-05204","synonyms":null,"cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short-rib thoracic dysplasia 20 with polydactyly.","acronym":"SRTD20.","accession":"DI-05203","synonyms":null,"cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short-rib thoracic dysplasia 21 without polydactyly.","acronym":"SRTD21.","accession":"DI-06195","synonyms":null,"cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short-rib thoracic dysplasia 2 with or without polydactyly.","acronym":"SRTD2.","accession":"DI-01192","synonyms":"Asphyxiating thoracic dystrophy 2.; ATD2.; JATD.; Jeune asphyxiating thoracic dystrophy.; Jeune syndrome 2.; ","cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short-rib thoracic dysplasia 3 with or without polydactyly.","acronym":"SRTD3.","accession":"DI-02583","synonyms":"Asphyxiating thoracic dystrophy 3.; ATD3.; JATD.; Jeune asphyxiating thoracic dystrophy.; Jeune syndrome 3.; Majewski syndrome.; Polydactyly with neonatal chondrodystrophy type I.; Polydactyly with neonatal chondrodystrophy type III.; Saldino-Noonan syndrome.; Short rib-polydactyly syndrome type I.; Short rib-polydactyly syndrome type IIB.; Short rib-polydactyly syndrome type III.; SRPS1.; SRPS2B.; SRPS3.; SRPS type IIB.; SRPS type III.; Verma-Naumoff syndrome.; ","cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short-rib thoracic dysplasia 4 with or without polydactyly.","acronym":"SRTD4.","accession":"DI-03067","synonyms":"Asphyxiating thoracic dystrophy 4.; ATD4.; JATD.; Jeune asphyxiating thoracic dystrophy.; Jeune syndrome 4.; ","cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Short-rib thoracic dysplasia 5 with or without polydactyly.","acronym":"SRTD5.","accession":"DI-03325","synonyms":"Asphyxiating thoracic dystrophy 5.; ATD5.; JATD.; Jeune asphyxiating thoracic dystrophy.; Jeune syndrome 5.; ","cross_references":"MeSH; D012779.","definition":"A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ","keywords":"KW-1186:Ciliopathy.; "}]}