HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1260&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1220&ordering=-synonyms",
"results": [
{
"identifier": "Combined oxidative phosphorylation deficiency 28.",
"acronym": "COXPD28.",
"accession": "DI-04643",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by decreased activities of respiratory chain enzymes, and variable clinical manifestations. Clinical features include episodic metabolic decompensation beginning in infancy, mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 29.",
"acronym": "COXPD29.",
"accession": "DI-04649",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, infantile-onset, neurodegenerative disorder characterized by decreased activities of mitochondrial respiratory complexes I and III, severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy. ",
"keywords": "KW-0523:Neurodegeneration.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Angioedema, hereditary, 7.",
"acronym": "HAE7.",
"accession": "DI-06127",
"synonyms": null,
"cross_references": "MeSH; D054179.",
"definition": "A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE7 is an autosomal dominant form characterized by onset of recurrent swelling of the face, lips, and oral mucosa in the second decade. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 30.",
"acronym": "COXPD30.",
"accession": "DI-04745",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, severe mitochondrial disease characterized by lactic acidosis, hypotonia, feeding difficulties, deafness, and respiratory failure with fatal issue. Patient skeletal muscle cells show decreased activities of mitochondrial complexes I, III and IV. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Cone-rod dystrophy 22.",
"acronym": "CORD22.",
"accession": "DI-06228",
"synonyms": null,
"cross_references": "MeSH; D058499.",
"definition": "An autosomal recessive form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 32.",
"acronym": "COXPD32.",
"accession": "DI-05097",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder due to deficiency of mitochondrial respiratory chain complexes, I, III and IV, and characterized by delayed psychomotor development and neurodevelopmental regression. Additional variable symptoms include poor or absent speech, inability to walk, and abnormal movements. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 33.",
"acronym": "COXPD33.",
"accession": "DI-05115",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder caused by multiple mitochondrial respiratory chain defects and impaired mitochondrial energy metabolism. Clinical manifestations are highly variable. Affected infants present with cardiomyopathy accompanied by multisystemic features involving liver, kidney, and brain. Death in infancy is observed in some patients. Children and adults present with myopathy and progressive external ophthalmoplegia. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 34.",
"acronym": "COXPD34.",
"accession": "DI-05192",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder caused by mitochondrial dysfunction and combined respiratory chain deficiencies of complexes I, III and IV. Clinical manifestations are variable and include congenital sensorineural deafness, lactic acidemia, and progressive hepatic and renal failure. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 35.",
"acronym": "COXPD35.",
"accession": "DI-05193",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder caused by defective mitochondrial metabolism and deficiencies of mitochondrial respiratory enzyme complexes. Clinical manifestations include global developmental delay, intellectual disability, microcephaly, and early-onset seizures. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 36.",
"acronym": "COXPD36.",
"accession": "DI-05238",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, multisystem disease resulting from deficiencies of mitochondrial respiratory enzyme complexes and mitochondrial dysfunction. Clinical manifestations include sensorineural hearing impairment, mild developmental delay, hypoglycemia, and intellectual disability. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 37.",
"acronym": "COXPD37.",
"accession": "DI-05483",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder due to mitochondrial dysfunction and characterized by hypotonia, failure to thrive, progressive neurodegeneration with neurologic deterioration after the first months of life, global developmental delay, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Death in first months or years of life is observed in most patients. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 38.",
"acronym": "COXPD38.",
"accession": "DI-05529",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder due to mitochondrial dysfunction and characterized by perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 39.",
"acronym": "COXPD39.",
"accession": "DI-05530",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder due to mitochondrial dysfunction and characterized by global developmental delay, axial hypotonia, dystonia, dysarthria, impaired intellectual development with poor speech, and deficiencies of the mitochondrial respiratory chain enzyme complexes. Neuroimaging shows abnormalities in the putamen and caudate nuclei, along with subcortical white matter involvement. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 4.",
"acronym": "COXPD4.",
"accession": "DI-01367",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A mitochondrial disease resulting in neonatal lactic acidosis, rapidly progressive encephalopathy, severely decreased mitochondrial protein synthesis, and combined deficiency of mtDNA-related mitochondrial respiratory chain complexes. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 40.",
"acronym": "COXPD40.",
"accession": "DI-05808",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by prenatal or infantile onset, fetal hydrops, severe hypertrophic cardiomyopathy, poor growth, sensorineural hearing loss, hepatic dysfunction, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in infancy. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 41.",
"acronym": "COXPD41.",
"accession": "DI-05809",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by prenatal onset, fetal hydrops, intrauterine growth retardation, hypertrophic cardiomyopathy, respiratory insufficiency, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in the perinatal period. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 42.",
"acronym": "COXPD42.",
"accession": "DI-05810",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by onset in the first months of life, cardiomyopathy, respiratory insufficiency, lactic acidosis, anemia, and variable impairment of mitochondrial respiratory complexes I, III, and IV. Death occurs in infancy. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 43.",
"acronym": "COXPD43.",
"accession": "DI-05811",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by onset at birth, intrauterine growth retardation, hypotonia, myopathy, feeding difficulties associated with gastroesophageal reflux, and persistently elevated serum lactate and creatine kinase. Brain imaging shows delayed myelination. Muscle biopsy shows decreased activities of mitochondrial respiratory chain complexes I, III, and IV. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 44.",
"acronym": "COXPD44.",
"accession": "DI-05822",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by onset in infancy or early childhood of global developmental delay, hypotonia, and abnormal movements. Combined oxidative phosphorylation deficiency is present in skeletal muscle. Most patients have seizures associated with status epilepticus. Additional variable features include optic atrophy, hypertrophic cardiomyopathy, stroke-like episodes, and increased lactate levels in serum and cerebrospinal fluid. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Hypoplastic left heart syndrome 2.",
"acronym": "HLHS2.",
"accession": "DI-03342",
"synonyms": null,
"cross_references": "MeSH; D018636.",
"definition": "A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. ",
"keywords": null
}
]
}