{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1220","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1180","results":[{"identifier":"Combined deficiency of vitamin K-dependent clotting factors 2.","acronym":"VKCFD2.","accession":"DI-01362","synonyms":null,"cross_references":"MedGen; C1843832.","definition":"VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. ","keywords":null},{"identifier":"Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia.","acronym":"CIMAH.","accession":"DI-05147","synonyms":null,"cross_references":"MeSH; D008661.","definition":"An autosomal recessive disorder due to an inborn error of folate metabolism. Variable clinical manifestations include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild intellectual disability, and lymphopenia. ","keywords":null},{"identifier":"Combined lipase deficiency.","acronym":"CLD.","accession":"DI-01363","synonyms":null,"cross_references":"MedGen; C1855498.","definition":"Characterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL). ","keywords":null},{"identifier":"Combined low LDL and fibrinogen.","acronym":"CLDLFIB.","accession":"DI-06676","synonyms":null,"cross_references":"MeSH; D008661.","definition":"An autosomal recessive condition characterized by low plasma LDL- cholesterol and fibrinogen levels, and associated with a decreased risk of coronary artery disease. ","keywords":null},{"identifier":"Combined malonic and methylmalonic aciduria.","acronym":"CMAMMA.","accession":"DI-03246","synonyms":null,"cross_references":"MeSH; D008052.","definition":"A metabolic disease characterized by malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma, ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline. ","keywords":null},{"identifier":"Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1.","acronym":"OIEDS1.","accession":"DI-05986","synonyms":null,"cross_references":"MeSH; D010013.","definition":"An autosomal dominant connective tissue disorder characterized by osteopenia, bone fragility, long bone fractures, blue sclerae, joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, and vascular fragility. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2.","acronym":"OIEDS2.","accession":"DI-05987","synonyms":null,"cross_references":"MeSH; D010013.","definition":"An autosomal dominant connective tissue disorder characterized by osteopenia, bone fragility, long bone fractures, blue sclerae, joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, and vascular fragility. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Combined oxidative phosphorylation deficiency 1.","acronym":"COXPD1.","accession":"DI-01364","synonyms":"Hepatoencephalopathy early fatal progressive.; ","cross_references":"MeSH; D028361.","definition":"A mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 10.","acronym":"COXPD10.","accession":"DI-03492","synonyms":"Cardiomyopathy infantile hypertrophic mitochondrial and lactic acidosis.; ","cross_references":"MeSH; D028361.","definition":"An autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases. ","keywords":"KW-0122:Cardiomyopathy.; KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 11.","acronym":"COXPD11.","accession":"DI-03566","synonyms":"Infantile encephaloneuromyopathy due to mitochondrial translation defect.; ","cross_references":"MeSH; D017237.","definition":"A severe, multisystemic, autosomal recessive, disorder characterized by deficiencies of multiple mitochondrial respiratory enzymes leading to neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 12.","acronym":"COXPD12.","accession":"DI-03612","synonyms":"Leukoencephalopathy with thalamus and brainstem involvement and high lactate.; LTBL.; ","cross_references":"MeSH; D017237.","definition":"An autosomal recessive, mitochondrial, neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2- weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 13.","acronym":"COXPD13.","accession":"DI-03613","synonyms":null,"cross_references":"MeSH; D017237.","definition":"A mitochondrial disorder characterized by early onset severe encephalomyopathy, dystonia, choreoathetosis, bucofacial dyskinesias and combined mitochondrial respiratory chain deficiency. Nerve conductions velocities are decreased. Levels of plasma and cerebrospinal fluid lactate are increased. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 14.","acronym":"COXPD14.","accession":"DI-03630","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 15.","acronym":"COXPD15.","accession":"DI-03631","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 16.","acronym":"COXPD16.","accession":"DI-03874","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive, mitochondrial disorder characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I and IV in heart and skeletal muscle. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 17.","acronym":"COXPD17.","accession":"DI-03913","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 18.","acronym":"COXPD18.","accession":"DI-03996","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 19.","acronym":"COXPD19.","accession":"DI-04002","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A mitochondrial disorder characterized by respiratory distress, hypotonia, and severe lactic acidosis in the newborn period. Other features include gastroesophageal reflux and elevated liver enzymes with normal synthetic function. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 2.","acronym":"COXPD2.","accession":"DI-01365","synonyms":"Agenesis of corpus callosum with dysmorphism and fatal lactic acidosis.; ","cross_references":"MeSH; D028361.","definition":"A mitochondrial disease resulting in fatal neonatal metabolic acidosis with agenesis of the corpus callosum. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 20.","acronym":"COXPD20.","accession":"DI-04181","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A disorder due to mitochondrial respiratory chain complex defects. Clinical features are variable and include muscle weakness with hypotonia, central neurological disease with progressive external ophthalmoplegia, ptosis and ataxia, delayed psychomotor development, cardiomyopathy, abnormal liver function, facial dysmorphism, microcephaly and epilepsy. ","keywords":"KW-1274:Primary mitochondrial disease.; "}]}