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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4160",
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"results": [
{
"identifier": "Mirror movements 2.",
"acronym": "MRMV2.",
"accession": "DI-03399",
"synonyms": null,
"cross_references": "MeSH; D020820.",
"definition": "A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. ",
"keywords": null
},
{
"identifier": "Mirror movements 3.",
"acronym": "MRMV3.",
"accession": "DI-04270",
"synonyms": null,
"cross_references": "MeSH; D020820.",
"definition": "A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. ",
"keywords": null
},
{
"identifier": "Mirror movements 4.",
"acronym": "MRMV4.",
"accession": "DI-05444",
"synonyms": null,
"cross_references": "MeSH; D020820.",
"definition": "A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. MRMV4 inheritance is autosomal dominant. ",
"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
},
{
"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 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 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": "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": "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": "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": "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, 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 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 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 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 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 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 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 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 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.; "
}
]
}