Human Disease List

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{
    "count": 6723,
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    "results": [
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 4.",
            "acronym": "MC1DN4.",
            "accession": "DI-05403",
            "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. MC1DN4 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 39.",
            "acronym": "MC1DN39.",
            "accession": "DI-06550",
            "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. MC1DN39 is an autosomal recessive form characterized by intrauterine growth retardation, anemia, and postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with a fatal outcome. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 37.",
            "acronym": "MC1DN37.",
            "accession": "DI-06080",
            "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. MC1DN37 features include developmental delay, cerebral atrophy, epilepsy, growth retardation, congenital myopathy with disproportion of fibers, and severely decreased activity of complex I. MC1DN37 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 36.",
            "acronym": "MC1DN36.",
            "accession": "DI-06016",
            "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. MC1DN36 is characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. MC1DN36 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 35.",
            "acronym": "MC1DN35.",
            "accession": "DI-05907",
            "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. MC1DN35 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 34.",
            "acronym": "MC1DN34.",
            "accession": "DI-05760",
            "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. MC1DN34 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 33.",
            "acronym": "MC1DN33.",
            "accession": "DI-05428",
            "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. MC1DN33 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 32.",
            "acronym": "MC1DN32.",
            "accession": "DI-05427",
            "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. MC1DN32 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 31.",
            "acronym": "MC1DN31.",
            "accession": "DI-05426",
            "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. MC1DN31 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 30.",
            "acronym": "MC1DN30.",
            "accession": "DI-05400",
            "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 3.",
            "acronym": "MC1DN3.",
            "accession": "DI-05402",
            "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. MC1DN3 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 29.",
            "acronym": "MC1DN29.",
            "accession": "DI-05425",
            "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. MC1DN29 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 28.",
            "acronym": "MC1DN28.",
            "accession": "DI-05424",
            "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. MC1DN28 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 27.",
            "acronym": "MC1DN27.",
            "accession": "DI-05423",
            "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. MC1DN27 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 26.",
            "acronym": "MC1DN26.",
            "accession": "DI-05422",
            "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. MC1DN26 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 25.",
            "acronym": "MC1DN25.",
            "accession": "DI-05421",
            "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. MC1DN25 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 24.",
            "acronym": "MC1DN24.",
            "accession": "DI-05420",
            "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. MC1DN24 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 23.",
            "acronym": "MC1DN23.",
            "accession": "DI-05419",
            "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. MC1DN23 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 22.",
            "acronym": "MC1DN22.",
            "accession": "DI-05418",
            "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. MC1DN22 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        },
        {
            "identifier": "Mitochondrial complex I deficiency, nuclear type 21.",
            "acronym": "MC1DN21.",
            "accession": "DI-05417",
            "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. MC1DN21 transmission pattern is consistent with autosomal recessive inheritance. ",
            "keywords": "KW-1274:Primary mitochondrial disease.; "
        }
    ]
}