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"count": 6723,
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"results": [
{
"identifier": "Mitochondrial complex III deficiency, nuclear type 7.",
"acronym": "MC3DN7.",
"accession": "DI-04118",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN7 is characterized by severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction. Additional clinical features include a dysmorphic facial appearance, delayed psychomotor development, autistic features, aggressive behavior, and mild sensorineural hearing loss. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex III deficiency, nuclear type 8.",
"acronym": "MC3DN8.",
"accession": "DI-04116",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex III deficiency, nuclear type 9.",
"acronym": "MC3DN9.",
"accession": "DI-04284",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN9 clinical features include feeding difficulties, hypoglycemia, severe lactic acidosis, and delayed psychomotor development. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency.",
"acronym": "MT-C4D.",
"accession": "DI-01469",
"synonyms": "Complex 4 mitochondrial respiratory chain deficiency.; Complex IV mitochondrial respiratory chain deficiency.; COX deficiency.; Cytochrome c oxidase deficiency.; Lethal neonatal cardiomyopathy hypertrophic due to cytochrome c oxidase deficiency.; ",
"cross_references": "MeSH; D030401.",
"definition": "A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and intellectual disability. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 1.",
"acronym": "MC4DN1.",
"accession": "DI-05950",
"synonyms": null,
"cross_references": "MeSH; D030401.",
"definition": "An autosomal recessive disorder of the mitochondrial respiratory chain characterized by early-onset, rapidly progressive encephalopathy, neurodegeneration, and loss of motor and cognitive skills. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, poor eye contact, oculomotor abnormalities, as well as deafness, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia. Lactate levels in serum and cerebrospinal fluid are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death in childhood may occur, often due to central respiratory failure. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 10.",
"acronym": "MC4DN10.",
"accession": "DI-05932",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder that manifests with neonatal neurological and respiratory distress. Clinical features include facial dysmorphism, hypotelorism, microphthalmia, an ogival palate, and severe metabolic acidosis. Death occurs in early infancy. Autoptic examination reveals brain hypertrophy, diffuse alteration of white matter myelination, numerous cavities in the parieto-occipital region, brainstem and cerebellum, as well as hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal hyperplasia. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 11.",
"acronym": "MC4DN11.",
"accession": "DI-05933",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder with onset in childhood or adolescence. MC4DN11 is characterized by walking difficulties, cerebellar ataxia, dystonia, choreoathetotic movements and dysarthria. Additional features may include sensory axonal neuropathy, cerebellar atrophy, and mild speech delay. Cognitive function is normal. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 12.",
"acronym": "MC4DN12.",
"accession": "DI-05934",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder with onset in early infancy. MC4DN12 features include poor overall growth, metabolic acidosis, profoundly delayed psychomotor development, seizures, hypotonia, and brain abnormalities. Death may occur in the first years of life. Serum lactate and creatine kinase levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 13.",
"acronym": "MC4DN13.",
"accession": "DI-04507",
"synonyms": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4.; CEMCOX4.; ",
"cross_references": "MeSH; D030401.",
"definition": "An autosomal recessive, infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy, left ventricular non-compaction, lactic acidosis, metabolic hypotonia, and mitochondrial complex IV deficiency. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 14.",
"acronym": "MC4DN14.",
"accession": "DI-05935",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder with onset in early childhood. MC4DN14 is characterized by developmental delay, cognitive impairment, motor delay, abnormal gait, sensorimotor demyelinating polyneuropathy, exercise intolerance, obesity, and short stature. Serum lactate levels are marginally increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 15.",
"acronym": "MC4DN15.",
"accession": "DI-05936",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder with onset in infancy. MC4DN15 is characterized by global developmental delay, poor feeding, metabolic acidosis, short stature, microcephaly, proximal muscle weakness, and distal spasticity. Additional manifestations include scoliosis, primary pulmonary hypertension, refractory seizures, and inability to walk. Serum and CSF lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 16.",
"acronym": "MC4DN16.",
"accession": "DI-05937",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder with onset in infancy and variable manifestations. MC4DN16 features include feeding difficulties, poor overall growth, short stature, microcephaly, developmental regression, severe hypotonia, and seizures. Cerebral and cerebellar atrophy, and abnormal lesions in the basal ganglia can be observed on brain imaging. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 17.",
"acronym": "MC4DN17.",
"accession": "DI-05938",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder with highly variable clinical manifestations and severity. Clinical features vary from acute neurometabolic decompensation in late infancy to subtle neurological signs presenting in adolescence. Encephalopathic episodes are characterized by acute loss of developmental milestones including ability to walk or sit, loss of speech, episodes with somnolence and seizure, and pyramidal signs rapidly evolving into spastic tetraparesis. The clinical course subsequently tends to stabilize and in several subjects marked recovery of neurological milestones is observed over time. Brain imaging shows a cavitating leukodystrophy, predominantly involving the posterior cerebral white matter and the corpus callosum in the acute stage, after which the abnormalities partially improve and then stabilize. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 18.",
"acronym": "MC4DN18.",
"accession": "DI-05939",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive, muscle-specific, mitochondrial disorder with onset in infancy. MC4DN18 is characterized by hypotonia, limb and facial muscle weakness, and high arched palate. Some patients have respiratory insufficiency at birth and cardiomyopathy. Patient skeletal muscle shows decreased levels and activity of mitochondrial respiratory complex IV. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 19.",
"acronym": "MC4DN19.",
"accession": "DI-05940",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder with onset in infancy or early childhood. MC4DN19 is characterized by global developmental delay, impaired intellectual development, developmental regression, loss of acquired motor and language skills, and motor dysfunction. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 2.",
"acronym": "MC4DN2.",
"accession": "DI-01608",
"synonyms": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1.; CEMCOX1.; Cytochrome c oxidase deficiency with fatal infantile cardioencephalomyopathy.; ",
"cross_references": "MeSH; D030401.",
"definition": "An autosomal recessive, severe mitochondrial disorder characterized by hypotonia, global developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, and neuronal loss in basal ganglia, brainstem and spinal cord. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 20.",
"acronym": "MC4DN20.",
"accession": "DI-05941",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder with onset in early infancy. MC4DN20 is characterized by pulmonary arterial hypertension, poor feeding, failure to thrive, hypotonia, delayed development, increased serum lactate and metabolic acidosis. Death in infancy occurs due to cardiorespiratory failure. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 21.",
"acronym": "MC4DN21.",
"accession": "DI-05942",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder with onset in infancy. MC4DN21 is characterized by congenital lactic acidosis, encephalopathy, global developmental delay, delayed speech, motor dysfunction, dystonia, and spasticity. Ataxia, peripheral neuropathy, and seizures may also occur. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 22.",
"acronym": "MC4DN22.",
"accession": "DI-06121",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder characterized by hypertrophic cardiomyopathy, encephalopathy, fatal lactic acidosis, and isolated complex IV deficiency. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 23.",
"acronym": "MC4DN23.",
"accession": "DI-06626",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "A primary mitochondrial disease, a clinically heterogeneous group of disorders arising from dysfunction of the mitochondrial respiratory chain. MC4DN23 is an autosomal recessive form characterized by infantile-onset encephalopathy. Clinical features include brain atrophy, severe developmental delay, seizures, and dyskinetic movement abnormalities. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
}
]
}