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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1260",
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"results": [
{
"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": "Combined oxidative phosphorylation deficiency 45.",
"acronym": "COXPD45.",
"accession": "DI-05877",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder with onset in utero and characterized by poor overall growth, failure to thrive, global developmental delay, poor or absent speech, seizures, hypotonia, loss of walking, acute progressive neurologic deterioration, brain lesions, and facial dysmorphism. Laboratory studies show increased serum lactate and decreased mitochondrial respiratory chain enzyme activity in patient tissues. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 46.",
"acronym": "COXPD46.",
"accession": "DI-05878",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder characterized by childhood-onset mitochondrial respiratory chain complex deficiencies, particularly complexes I and IV, and hepatic disease. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 47.",
"acronym": "COXPD47.",
"accession": "DI-05882",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, multisystemic, mitochondrial disorder characterized by intrauterine growth retardation, swallowing difficulties with failure to thrive, hypoglycemia, dehydration, and hepatomegaly. Additional features include global developmental delay with impaired intellectual development and absent speech, microcephaly, facial dysmorphism, cataract, sensorineural deafness, skeletal features, and cryptorchidism. Laboratory studies show metabolic acidosis, increased serum lactate, and variably impaired activity of mitochondrial respiratory complexes I, III, IV, and V in different tissues. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 48.",
"acronym": "COXPD48.",
"accession": "DI-05913",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, mitochondrial encephalomyopathy characterized by global developmental delay, microcephaly, failure to thrive, hypotonia, muscle weakness, external ophthalmoplegia, and seizures. Laboratory studies show metabolic acidosis, increased serum lactate, and combined oxidative phosphorylation deficiency in skeletal muscle. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 49.",
"acronym": "COXPD49.",
"accession": "DI-05914",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, mitochondrial myopathy characterized by progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated serum creatine kinase, and deficiencies of multiple respiratory chain enzymes. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 5.",
"acronym": "COXPD5.",
"accession": "DI-01368",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A mitochondrial disease resulting in severe metabolic acidosis, edema, hypertrophic cardiomyopathy, tubulopathy, and hypotonia. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 50.",
"acronym": "COXPD50.",
"accession": "DI-05915",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, mitochondrial encephalomyopathy characterized by intrauterine growth retardation, poor overall growth, delayed psychomotor development, hypotonia, muscle weakness, progressive loss of ambulation, and mitochondrial oxidative phosphorylation deficiency in patient tissues. Brain imaging shows partial agenesis of the corpus callosum. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 51.",
"acronym": "COXPD51.",
"accession": "DI-05943",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, mitochondrial disorder characterized by intrauterine growth retardation, low birth weight, poor overall growth, progressive limb rigidity, delayed psychomotor development, hearing loss, and optic atrophy. Brain imaging shows abnormal bilateral signs at the basal ganglia and brainstem. Patient cells show decreased mitochondrial complex I and IV levels and activities, and generalized mitochondrial translation defects. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 52.",
"acronym": "COXPD52.",
"accession": "DI-06148",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder with onset in infancy, characterized by lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, multisystem organ failure and abnormal mitochondria. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 53.",
"acronym": "COXPD53.",
"accession": "DI-06163",
"synonyms": "Elbracht-Isikay syndrome.; Global developmental delay, progressive microcephaly, structural brain abnormalities, and autoinflammation.; ",
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by global developmental delay, hypomyelination, cerebral atrophy, microcephaly, liver dysfunction, and recurrent autoinflammation. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 54.",
"acronym": "COXPD54.",
"accession": "DI-06332",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, multisystem disorder with highly variable manifestations resulting from defective mitochondrial transcription and translation. Clinical features include early-onset sensorineural hearing loss, sometimes associated with global developmental delay or primary ovarian failure, peripheral hypertonia, seizures, muscle weakness, behavioral abnormalities, and leukoencephalopathy on brain imaging. Serum lactate may or may not be elevated. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 55.",
"acronym": "COXPD55.",
"accession": "DI-06333",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A mitochondrial disease characterized by global developmental delay, hypotonia, short stature, and impaired intellectual development with speech disabilities in childhood. Indolent progressive external ophthalmoplegia may be present in some patients. COXPD55 transmission pattern is consistent with autosomal dominant inheritance in some families, and with autosomal recessive inheritance in others. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 56.",
"acronym": "COXPD56.",
"accession": "DI-06553",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disease characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 57.",
"acronym": "COXPD57.",
"accession": "DI-06577",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disease characterized by multisystemic features including encephalopathy, neurodevelopmental regression, ocular anomalies, decreased vision, auditory neuropathy, sensorineural hearing loss, and cardiac defects. Disease severity is variable, ranging from premature death in infancy to permanent disability in young adulthood. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 58.",
"acronym": "COXPD58.",
"accession": "DI-06725",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disease manifesting in the first 5 years of life and characterized by a wide range of clinical presentations. Clinical features include neonatal lactic acidosis, epileptic encephalopathy, developmental delay and impaired intellectual development with non-specific brain abnormalities, or mitochondrial myopathy with a treatable neuromuscular transmission defect. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
}
]
}