Human Disease List
GET /api/human_diseases/?format=api&offset=2560&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2580&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&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 } ] }