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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2720&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2680&ordering=synonyms",
"results": [
{
"identifier": "Mitochondrial complex V deficiency, nuclear type 5.",
"acronym": "MC5DN5.",
"accession": "DI-05335",
"synonyms": "Mitochondrial complex V (ATP synthase) deficiency, ATP5F1D type.; ",
"cross_references": "MeSH; D017237.",
"definition": "A mitochondrial disorder characterized by childhood onset of episodic metabolic decompensation featuring lactic acidosis and hyperammonemia accompanied by ketoacidosis or hypoglycemia. Chronic manifestations include developmental delay, easy fatiguability, and 3- methylglutaconic aciduria. The transmission pattern of MC5DN5 is consistent with autosomal recessive inheritance. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex V deficiency, nuclear type 4A.",
"acronym": "MC5DN4A.",
"accession": "DI-06674",
"synonyms": "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A.; ",
"cross_references": "MeSH; D028361.",
"definition": "An autosomal dominant mitochondrial disorder characterized by failure to thrive, feeding difficulties, hyperlactatemia, hyperammonemia, and increased serum alanine levels. Some affected individuals show spontaneous resolution of the symptoms in early childhood and have subsequent normal growth and development, whereas others show developmental delay with impaired intellectual development and movement abnormalities, including dystonia, ataxia, or spasticity. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex V deficiency, nuclear type 4B.",
"acronym": "MC5DN4B.",
"accession": "DI-03740",
"synonyms": "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type.; Mitochondrial complex V (ATP synthase) deficiency ATP5A1 type.; Mitochondrial complex V (ATP synthase) deficiency type 4.; ",
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder characterized by severe neonatal encephalopathy resulting in death in the first weeks of life. Affected individuals do not show dysmorphic features or organomegaly, and manifest neurologic features such as irritability, a high-pitched cry, a horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation. Post-mortem anatomopathological examination shows extensive cerebral damage, hypoplastic lungs, and renal and skeletal lesions. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex V deficiency, nuclear type 6.",
"acronym": "MC5DN6.",
"accession": "DI-05711",
"synonyms": "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6.; ",
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder characterized by gross motor developmental delay manifesting in the first years of life, and subsequent episodic developmental regression. The episodes are associated with metabolic stress, including fever, illness, and general anesthesia. Patients develop gait difficulties or loss of ambulation, as well as other variable abnormalities, including abnormal movements, hemiplegia, and persistent lethargy. Brain imaging shows degenerative features in the basal ganglia and brainstem consistent with a diagnosis of Leigh syndrome. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex V deficiency, nuclear type 7.",
"acronym": "MC5DN7.",
"accession": "DI-06675",
"synonyms": "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7.; ",
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, severe, mitochondrial disorder apparent soon after birth. It is characterized by multisystemic features that include hypotonia, developmental delay, progressive epileptic encephalopathy, progressive cerebral atrophy, white matter abnormalities on brain imaging, and hypertrophic cardiomyopathy in some patients. Death in infancy or early childhood may occur. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex V deficiency, nuclear type 2.",
"acronym": "MC5DN2.",
"accession": "DI-03147",
"synonyms": "Mitochondrial complex V (ATP synthase) deficiency TMEM70 type.; Mitochondrial complex V (ATP synthase) deficiency type 2.; Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency.; Mitochondrial neonatal encephalocardiomyopathy due to ATP synthase deficiency.; ",
"cross_references": "MeSH; D017237.",
"definition": "A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. ",
"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 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 12A, cardiomyopathic type.",
"acronym": "MTDPS12A.",
"accession": "DI-04880",
"synonyms": "Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type, autosomal dominant.; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) autosomal dominant.; ",
"cross_references": "MeSH; D017240.",
"definition": "An autosomal dominant mitochondrial disorder characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-1274:Primary mitochondrial disease.; "
},
{
"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 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 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.; "
},
{
"identifier": "Neurodegeneration with brain iron accumulation 4.",
"acronym": "NBIA4.",
"accession": "DI-03284",
"synonyms": "Mitochondrial membrane protein associated neurodegeneration.; MPAN.; ",
"cross_references": "MeSH; D019189.",
"definition": "A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA4 results in speech difficulty, extrapyramidal signs, oromandibular and generalized dystonia, and parkinsonism. Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Myopathy with lactic acidosis and sideroblastic anemia 1.",
"acronym": "MLASA1.",
"accession": "DI-02020",
"synonyms": "Mitochondrial myopathy and sideroblastic anemia.; ",
"cross_references": "MeSH; D000756.",
"definition": "A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth. ",
"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 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": "Mitral valve prolapse 2.",
"acronym": "MVP2.",
"accession": "DI-04583",
"synonyms": "Mitral valve prolapse, myxomatous 2.; MMVP2.; Myxomatous mitral valve prolapse 2.; ",
"cross_references": "MeSH; D008945.",
"definition": "A form of mitral valve prolapse, a valvular heart disease characterized by abnormally elongated and thickened mitral valve leaflets, that typically show myxomatous degeneration with increased leaflet compliance. It is associated with mitral regurgitation. Myxomatous mitral valves have an abnormal layered architecture characterized by loose collagen in fibrosa, expanded spongiosa strongly positive for proteoglycans, and disrupted elastin in atrialis. In classic mitral valve prolapse, leaflets are at least 5 mm thick, whereas in the non-classic form, they are less than 5 mm thick. Severe classic mitral valve prolapse is strongly associated with arrhythmias, endocarditis, heart failure, and need for valve surgery. MVP2 inheritance is autosomal dominant. ",
"keywords": null
}
]
}