{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3780&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3740&ordering=identifier","results":[{"identifier":"Lissencephaly 7, with cerebellar hypoplasia.","acronym":"LIS7.","accession":"DI-04422","synonyms":null,"cross_references":"MeSH; D054082.","definition":"A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS7 patients manifest lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy. ","keywords":"KW-0451:Lissencephaly.; "},{"identifier":"Lissencephaly 8.","acronym":"LIS8.","accession":"DI-04891","synonyms":null,"cross_references":"MeSH; D054082.","definition":"A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS8 patients manifest delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, hypotonia, cortical gyral abnormalities, and hypoplasia of the corpus callosum, brainstem and cerebellum. LIS8 inheritance is autosomal recessive. ","keywords":"KW-0451:Lissencephaly.; "},{"identifier":"Lissencephaly 9 with complex brainstem malformation.","acronym":"LIS9.","accession":"DI-05481","synonyms":null,"cross_references":"MeSH; D054082.","definition":"A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS9 is an autosomal dominant form clinically characterized by global developmental delay apparent since infancy, impaired intellectual development with poor or absent speech, and sometimes abnormal or involuntary movements. Brain imaging shows malformation of the brainstem, in addition to pachygyria and lissencephaly. ","keywords":"KW-0451:Lissencephaly.; "},{"identifier":"Lissencephaly, X-linked 1.","acronym":"LISX1.","accession":"DI-00673","synonyms":"XLIS.; ","cross_references":"MeSH; D054082.","definition":"A classic lissencephaly characterized by intellectual disability and seizures that are more severe in male patients. Affected boys show an abnormally thick cortex with absent or severely reduced gyri. Clinical manifestations include feeding problems, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe phenotype referred to as 'doublecortex'. ","keywords":"KW-0451:Lissencephaly.; "},{"identifier":"Lissencephaly, X-linked 2.","acronym":"LISX2.","accession":"DI-00674","synonyms":"Lissencephaly X-linked with ambiguous genitalia.; XLAG.; XLISG.; ","cross_references":"MeSH; D054082.","definition":"A classic type lissencephaly associated with abnormal genitalia. Patients have severe congenital or postnatal microcephaly, lissencephaly, agenesis of the corpus callosum, neonatal-onset intractable epilepsy, poor temperature regulation, chronic diarrhea, and ambiguous or underdeveloped genitalia. ","keywords":"KW-0451:Lissencephaly.; "},{"identifier":"Liver disease, severe congenital.","acronym":"SCOLIV.","accession":"DI-06479","synonyms":null,"cross_references":"MeSH; D008107.","definition":"An autosomal recessive disease characterized by severe neonatal liver cirrhosis and progressive hepatic dysfunction. Affected individuals have feeding difficulties, poor overall growth, and failure to thrive with signs of malnutrition. Additional features include jaundice, abdominal distension, hepatomegaly or hepatosplenomegaly, and ascites in most patients. ","keywords":null},{"identifier":"Liver failure, infantile, transient.","acronym":"LFIT.","accession":"DI-02634","synonyms":"Acute infantile liver failure.; Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect.; ","cross_references":"MeSH; D017093.","definition":"A transient disorder of hepatic function characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, increased serum lactate. Patients who survive the initial acute episode can recover, show normal development and have no recurrence. ","keywords":null},{"identifier":"Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia.","acronym":"LDMLS1.","accession":"DI-04883","synonyms":"IDDCA.; Intellectual developmental disorder with cardiac arrhythmia.; ","cross_references":"MeSH; D065886.","definition":"An autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia.","acronym":"LDMLS2.","accession":"DI-04882","synonyms":"LADCI.; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia.; Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia.; ","cross_references":"MeSH; D065886.","definition":"An autosomal recessive neurodevelopmental disorder characterized by speech impairment and variable expressivity of attention deficit- hyperactivity disorder. Some patients manifest developmental and motor delay, hypotonia, and sinus-node dysfunction. ","keywords":null},{"identifier":"Loeys-Dietz syndrome 1.","acronym":"LDS1.","accession":"DI-00675","synonyms":"AAT5.; Familial thoracic aortic aneurysm 5.; Furlong syndrome.; LDAS.; Loeys-Dietz aortic aneurysm syndrome.; Marfanoid disorder-craniosynostosis syndrome.; ","cross_references":"MeSH; D055947.","definition":"An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit. ","keywords":"KW-0989:Craniosynostosis.; KW-0993:Aortic aneurysm.; "},{"identifier":"Loeys-Dietz syndrome 2.","acronym":"LDS2.","accession":"DI-00677","synonyms":"AAT3.; Familial aortic aneurysm thoracic type 3.; Marfan syndrome type 2.; MFS2.; TAAD2.; Thoracic aortic aneurysms and dissection 2.; ","cross_references":"MeSH; D055947.","definition":"An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit. ","keywords":"KW-0989:Craniosynostosis.; KW-0993:Aortic aneurysm.; "},{"identifier":"Loeys-Dietz syndrome 3.","acronym":"LDS3.","accession":"DI-03064","synonyms":"Aneurysms-osteoarthritis syndrome.; AOS.; LDS1C.; Loeys-Dietz syndrome 1C.; Loeys-Dietz syndrome with osteoarthritis.; ","cross_references":"MeSH; D055947.","definition":"An aortic aneurysm syndrome with widespread systemic involvement. The disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Patients with LDS3 also manifest early-onset osteoarthritis. They lack craniosynostosis and intellectual disability. ","keywords":"KW-0993:Aortic aneurysm.; "},{"identifier":"Loeys-Dietz syndrome 4.","acronym":"LDS4.","accession":"DI-03523","synonyms":"Aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations.; ","cross_references":"MeSH; D055947.","definition":"An aortic aneurysm syndrome with widespread systemic involvement. LDS4 is characterized by arterial tortuosity, aortic dissection, intracranial aneurysm and subarachnoid hemorrhage, hypertelorism, bifid uvula, pectus deformity, bicuspid aortic valve, arachnodactyly, scoliosis, foot deformities, dural ectasia, joint hyperflexibility, and thin skin with easy bruising and striae. ","keywords":"KW-0993:Aortic aneurysm.; "},{"identifier":"Loeys-Dietz syndrome 5.","acronym":"LDS5.","accession":"DI-03991","synonyms":"Rienhoff syndrome.; RNHF.; ","cross_references":"MeSH; D055947.","definition":"A form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. LDS5 additional variable features include mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity. LDS5 patients do not manifest remarkable aortic or arterial tortuosity, and there is no strong evidence for early aortic dissection. ","keywords":null},{"identifier":"Loeys-Dietz syndrome 6.","acronym":"LDS6.","accession":"DI-06280","synonyms":null,"cross_references":"MeSH; D055947.","definition":"A form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Most LDS6 patients have thoracic aortic aneurysm involving the ascending aorta and/or aortic root, but cerebral and iliac arteries can be affected, and abdominal aortic aneurysm has been observed. Arterial tortuosity involving cerebral vessels, the aorta, and/or iliac arteries has also been reported. LDS6 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Long-chain 3-hydroxyl-CoA dehydrogenase deficiency.","acronym":"LCHAD deficiency.","accession":"DI-01914","synonyms":null,"cross_references":"MedGen; CN074230.","definition":"The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced. ","keywords":null},{"identifier":"Long-Olsen-Distelmaier syndrome.","acronym":"LNGODS.","accession":"DI-06796","synonyms":"Long-Olsen syndrome.; ","cross_references":"MeSH; D002311.","definition":"An autosomal dominant syndrome characterized by lethal dilated cardiomyopathy, bilateral cataracts, mild facial dysmorphisms, and liver dysfunction. Some patients have brain abnormalities, including pachygyria, polymicrogyria, and septo-optic dysplasia. Death occurs in infancy. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Long QT syndrome 1.","acronym":"LQT1.","accession":"DI-00679","synonyms":"Romano-Ward syndrome.; RWS.; Ward-Romano syndrome.; ","cross_references":"MeSH; D029597.","definition":"A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. ","keywords":"KW-0454:Long QT syndrome.; "},{"identifier":"Long QT syndrome 10.","acronym":"LQT10.","accession":"DI-00687","synonyms":null,"cross_references":"MeSH; D008133.","definition":"A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. ","keywords":"KW-0454:Long QT syndrome.; "},{"identifier":"Long QT syndrome 11.","acronym":"LQT11.","accession":"DI-00688","synonyms":null,"cross_references":"MeSH; D008133.","definition":"A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. ","keywords":"KW-0454:Long QT syndrome.; "}]}