{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2580&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2540&ordering=-identifier","results":[{"identifier":"Mitochondrial complex I deficiency, nuclear type 20.","acronym":"MC1DN20.","accession":"DI-01173","synonyms":"ACAD9 deficiency.; Acyl-CoA dehydrogenase family, member 9, deficiency.; Mitochondrial complex I deficiency due to ACAD9 deficiency.; ","cross_references":"MeSH; D028361.","definition":"An autosomal recessive metabolic disorder associated with mitochondrial complex I deficiency, resulting in multisystemic and variable manifestations. Clinical features include infantile onset of acute metabolic acidosis, Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures, coma and death), exercise intolerance, hypertrophic cardiomyopathy, liver failure, muscle weakness, and neurologic dysfunction. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex I deficiency, nuclear type 2.","acronym":"MC1DN2.","accession":"DI-05401","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN2 inheritance is autosomal recessive. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex I deficiency, nuclear type 19.","acronym":"MC1DN19.","accession":"DI-05416","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN19 transmission pattern is consistent with autosomal recessive inheritance. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex I deficiency, nuclear type 18.","acronym":"MC1DN18.","accession":"DI-05415","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN18 transmission pattern is consistent with autosomal recessive inheritance. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex I deficiency, nuclear type 17.","acronym":"MC1DN17.","accession":"DI-05414","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN17 transmission pattern is consistent with autosomal recessive inheritance. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex I deficiency, nuclear type 16.","acronym":"MC1DN16.","accession":"DI-05413","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN16 transmission pattern is consistent with autosomal recessive inheritance. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex I deficiency, nuclear type 15.","acronym":"MC1DN15.","accession":"DI-05412","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN15 transmission pattern is consistent with autosomal recessive inheritance. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex I deficiency, nuclear type 14.","acronym":"MC1DN14.","accession":"DI-05411","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN14 transmission pattern is consistent with autosomal recessive inheritance. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex I deficiency, nuclear type 13.","acronym":"MC1DN13.","accession":"DI-05410","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN13 transmission pattern is consistent with autosomal recessive inheritance. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex I deficiency, nuclear type 12.","acronym":"MC1DN12.","accession":"DI-05399","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex I deficiency, nuclear type 11.","acronym":"MC1DN11.","accession":"DI-05409","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN11 transmission pattern is consistent with autosomal recessive inheritance. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex I deficiency, nuclear type 10.","acronym":"MC1DN10.","accession":"DI-05408","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN10 transmission pattern is consistent with autosomal recessive inheritance. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex I deficiency, nuclear type 1.","acronym":"MC1DN1.","accession":"DI-01981","synonyms":"Complex I mitochondrial respiratory chain deficiency.; Deficiency of mitochondrial NADH dehydrogenase component of complex I.; Mitochondrial complex I deficiency.; NADH:Q(1) oxidoreductase deficiency.; NADH:Ubiquinone oxidoreductase deficiency.; NADH-Coenzyme Q reductase deficiency.; ","cross_references":"MeSH; D028361.","definition":"A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex I deficiency, mitochondrial type 1.","acronym":"MC1DM1.","accession":"DI-05429","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitchell syndrome.","acronym":"MITCH.","accession":"DI-05884","synonyms":null,"cross_references":"MeSH; D015418.","definition":"A disorder characterized by episodic demyelination, sensorimotor polyneuropathy, and sensorineural hearing loss. ","keywords":"KW-0209:Deafness.; KW-0622:Neuropathy.; "},{"identifier":"Mitchell-Riley syndrome.","acronym":"MTCHRS.","accession":"DI-02515","synonyms":"Diabetes neonatal with pancreatic hypoplasia intestinal atresia and gallbladder aplasia or hypoplasia.; ","cross_references":"MeSH; D004066.","definition":"A disorder characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder. There is no dysmorphic features. ","keywords":null},{"identifier":"Mismatch repair cancer syndrome 4.","acronym":"MMRCS4.","accession":"DI-05971","synonyms":null,"cross_references":"MeSH; D009386.","definition":"An autosomal recessive form of mismatch repair cancer syndrome, a childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. ","keywords":null},{"identifier":"Mismatch repair cancer syndrome 3.","acronym":"MMRCS3.","accession":"DI-05970","synonyms":null,"cross_references":"MeSH; D009386.","definition":"An autosomal recessive form of mismatch repair cancer syndrome, a childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. ","keywords":null},{"identifier":"Mismatch repair cancer syndrome 2.","acronym":"MMRCS2.","accession":"DI-05969","synonyms":null,"cross_references":"MeSH; D009386.","definition":"An autosomal recessive form of mismatch repair cancer syndrome, a childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. ","keywords":null},{"identifier":"Mismatch repair cancer syndrome 1.","acronym":"MMRCS1.","accession":"DI-01980","synonyms":"Brain tumor-polyposis syndrome 1.; BTP1 syndrome.; BTPS1.; Childhood cancer syndrome.; CMMRDS.; Constitutional mismatch repair deficiency syndrome.; Mismatch repair deficiency.; MMR deficiency.; Turcot syndrome.; ","cross_references":"MeSH; D009386.","definition":"An autosomal recessive form of mismatch repair cancer syndrome, a childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. ","keywords":null}]}