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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4260",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4220",
"results": [
{
"identifier": "Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type.",
"acronym": "MTDPS12B.",
"accession": "DI-03934",
"synonyms": "Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type, autosomal recessive.; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive.; ",
"cross_references": "MeSH; D017240.",
"definition": "An autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 13.",
"acronym": "MTDPS13.",
"accession": "DI-03915",
"synonyms": "Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).; ",
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type.",
"acronym": "MTDPS14.",
"accession": "DI-04691",
"synonyms": "Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type).; Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type).; ",
"cross_references": "MeSH; D017240.",
"definition": "An autosomal recessive mitochondrial disorder characterized by lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy. Skeletal muscle biopsies show significant mtDNA depletion and abnormal mitochondria. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 15, hepatocerebral type.",
"acronym": "MTDPS15.",
"accession": "DI-04864",
"synonyms": "Mitochondrial DNA depletion syndrome 15 (hepatocerebral type).; ",
"cross_references": "MeSH; D017240.",
"definition": "An autosomal recessive mitochondrial disorder characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle. Hepatic pathology includes cirrhosis, steatosis and cholestasis. Progression to liver failure and death is rapid with no evidence of neurological impairment or other organ involvement. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type.",
"acronym": "MTDPS16B.",
"accession": "DI-06164",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder characterized by childhood onset of progressive neuroophthalmic manifestations with optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia, and generalized chorea associated with mtDNA depletion. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 16, hepatic type.",
"acronym": "MTDPS16.",
"accession": "DI-05631",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder characterized by poor feeding, difficulty breathing, abdominal distention, an abnormal carnitine profile, metabolic acidosis and hepatic failure in the neonatal period. Severe mtDNA depletion is observed in liver and muscle biopsies. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 17.",
"acronym": "MTDPS17.",
"accession": "DI-05654",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by childhood onset of rapidly progressive encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, multiple defects of oxidative phosphorylation, mitochondrial complex I and IV deficiency, and reduced mtDNA copy number. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 18.",
"acronym": "MTDPS18.",
"accession": "DI-05790",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by early- onset progressive weakness and atrophy of the distal limb muscles, loss of ambulation, and atrophy of the intrinsic hand muscles with clawed hands. Additional features include scoliosis, hypo- or hyperreflexia, and decreased pulmonary vital capacity. Examination of skeletal muscle shows mitochondrial respiratory chain deficiencies involving complexes I and IV, associated with mtDNA depletion. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 19.",
"acronym": "MTDPS19.",
"accession": "DI-05891",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by progressive and severe epileptic encephalopathy, hypotonia, poor spontaneous movements evolving to spastic quadriparesis and dyskinesias, and respiratory complex I deficiency and mitochondrial DNA depletion in skeletal muscle. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 1, MNGIE type.",
"acronym": "MTDPS1.",
"accession": "DI-01984",
"synonyms": "Mitochondrial neurogastrointestinal encephalomyopathy.; Mitochondrial neurogastrointestinal encephalopathy syndrome TYMP-related.; Myoneurogastrointestinal encephalomyopathy.; POLIP syndrome.; Polyneuropathy ophthalmoplegia leukoencephalopathy and intestinal pseudoobstruction.; ",
"cross_references": "MeSH; D017237.",
"definition": "A multisystem disease associated with mitochondrial dysfunction. It is clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy. ",
"keywords": "KW-0622:Neuropathy.; KW-0935:Progressive external ophthalmoplegia.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 2.",
"acronym": "MTDPS2.",
"accession": "DI-02018",
"synonyms": "Mitochondrial DNA depletion myopathy TK2-related.; Mitochondrial DNA depletion syndrome 2 myopathic type.; Myopathic mitochondrial DNA depletion syndrome.; ",
"cross_references": "MeSH; D017240.",
"definition": "A disorder due to mitochondrial dysfunction characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later onset of a slowly progressive myopathy. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 20, MNGIE type.",
"acronym": "MTDPS20.",
"accession": "DI-06362",
"synonyms": "Mitochondrial neurogastrointestinal encephalomyopathy syndrome, LIG3-related.; ",
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder characterized by severe gut dysmotility, muscle weakness and atrophy, neurological abnormalities including epilepsy, migraine, stroke-like episodes, learning difficulties or cognitive decline, and neurogenic bladder. Brain imaging usually shows diffuse leukoencephalopathy and may show cerebellar atrophy. Disease onset can range from infancy to the teenage years. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 3.",
"acronym": "MTDPS3.",
"accession": "DI-01709",
"synonyms": "Hepatocerebral mitochondrial DNA deletions syndrome autosomal recessive.; Mitochondrial DNA depletion syndrome 3 hepatocerebral type.; ",
"cross_references": "MeSH; D017237.",
"definition": "A disorder due to mitochondrial dysfunction characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion. ",
"keywords": "KW-0622:Neuropathy.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 4A.",
"acronym": "MTDPS4A.",
"accession": "DI-00079",
"synonyms": "AHS.; Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis.; Alpers-Huttenlocher syndrome.; Alpers progressive infantile poliodystrophy.; Alpers syndrome.; Mitochondrial DNA depletion syndrome 4A Alpers type.; Neuronal degeneration of childhood with liver disease progressive.; PNDC.; ",
"cross_references": "MeSH; D002549.",
"definition": "An autosomal recessive hepatocerebral syndrome due to mitochondrial dysfunction. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis. ",
"keywords": "KW-0523:Neurodegeneration.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 4B.",
"acronym": "MTDPS4B.",
"accession": "DI-02989",
"synonyms": "Mitochondrial DNA depletion syndrome 4B MNGIE type.; Mitochondrial neurogastrointestinal encephalopathy syndrome POLG-related.; MNGIE POLG-related.; ",
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive progressive multisystem disorder due to mitochondrial dysfunction. It is clinically characterized by chronic gastrointestinal dysmotility and pseudo-obstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness. ",
"keywords": "KW-0622:Neuropathy.; KW-0935:Progressive external ophthalmoplegia.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 5.",
"acronym": "MTDPS5.",
"accession": "DI-01523",
"synonyms": "Encephalomyopathic mitochondrial DNA depletion syndrome with or without methylmalonic aciduria.; Mitochondrial DNA depletion syndrome 5 encephalomyopathic with or without methylmalonic aciduria.; Mitochondrial DNA depletion syndrome encephalomyopathic form with or without methylmalonic aciduria autosomal recessive SUCLA2-related.; ",
"cross_references": "MeSH; D017237.",
"definition": "A disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria in some patients. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 6.",
"acronym": "MTDPS6.",
"accession": "DI-03020",
"synonyms": "Mitochondrial DNA depletion 6 hepatocerebral type.; Navajo familial neurogenic arthropathy.; Navajo neurohepatopathy.; Navajo neuropathy.; NN.; NNH.; ",
"cross_references": "MeSH; D017237.",
"definition": "A disease due to mitochondrial dysfunction. It is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, peripheral neuropathy, corneal scarring, acral ulceration and osteomyelitis leading to autoamputation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections. ",
"keywords": "KW-0622:Neuropathy.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 7.",
"acronym": "MTDPS7.",
"accession": "DI-01065",
"synonyms": "IOSCA.; Mitochondrial DNA depletion syndrome 7 hepatocerebral type.; Ohaha syndrome.; Ophthalmoplegia hypotonia ataxia hypoacusis and athetosis.; Pure spinocerebellar ataxia Japanese type.; SCA4 pure Japanese type.; SCA8.; Spinocerebellar ataxia 8.; Spinocerebellar ataxia infantile-onset.; Spinocerebellar ataxia infantile with sensory neuropathy.; ",
"cross_references": "MeSH; D020754.",
"definition": "A severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropathy. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. In some individuals liver dysfunction and multi-organ failure is present. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 8A.",
"acronym": "MTDPS8A.",
"accession": "DI-01522",
"synonyms": "Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy.; Mitochondrial DNA depletion syndrome 8A encephalomyopathic type with renal tubulopathy.; Mitochondrial DNA depletion syndrome encephalomyopathic with renal tubulopathy autosomal recessive.; ",
"cross_references": "MeSH; D017237.",
"definition": "A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 8B.",
"acronym": "MTDPS8B.",
"accession": "DI-02988",
"synonyms": "Mitochondrial DNA depletion syndrome 8B MNGIE type.; Mitochondrial neurogastrointestinal encephalopathy syndrome RRM2B-related.; MNGIE RRM2B-related.; ",
"cross_references": "MeSH; D017237.",
"definition": "A disease due to mitochondrial dysfunction and characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy. ",
"keywords": "KW-0622:Neuropathy.; KW-1274:Primary mitochondrial disease.; "
}
]
}