{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2500&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2460&ordering=-synonyms","results":[{"identifier":"Combined oxidative phosphorylation deficiency 27.","acronym":"COXPD27.","accession":"DI-04592","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive mitochondrial disorder characterized by multiple mitochondrial respiratory-chain-complex deficiencies causing neurological regression, progressive cognitive decline, complex movement disorder, epileptic encephalopathy, progressive spastic tetraparesis, and progressive impairment of vision and hearing. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Macular degeneration, age-related, 8.","acronym":"ARMD8.","accession":"DI-00061","synonyms":null,"cross_references":"MeSH; D008268.","definition":"A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ","keywords":"KW-0913:Age-related macular degeneration.; "},{"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":"Gastrointestinal stromal tumor.","acronym":"GIST.","accession":"DI-01646","synonyms":null,"cross_references":"MeSH; D046152.","definition":"Common mesenchymal neoplasms arising in the gastrointestinal tract, most often in the stomach. They are histologically, immunohistochemically, and genetically different from typical leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed of a fairly uniform population of spindle-shaped cells. Some tumors are dominated by epithelioid cells or contain a mixture of spindle and epithelioid morphologies. Primary GISTs in the gastrointestinal tract commonly metastasize in the omentum and mesenteries, often as multiple nodules. However, primary tumors may also occur outside of the gastrointestinal tract, in other intra-abdominal locations, especially in the omentum and mesentery. ","keywords":null},{"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":"Glycine encephalopathy with normal serum glycine.","acronym":"GCENSG.","accession":"DI-04929","synonyms":null,"cross_references":"MeSH; D020739.","definition":"An autosomal recessive, severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. ","keywords":null},{"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":"Heterotaxy, visceral, 9, autosomal, with male infertility.","acronym":"HTX9.","accession":"DI-05875","synonyms":null,"cross_references":"MeSH; D059446.","definition":"A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX9 is an autosomal recessive form associated with male infertility, mainly due to defective sperm motility. ","keywords":"KW-1056:Heterotaxy.; "},{"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":"Glucocorticoid deficiency 5.","acronym":"GCCD5.","accession":"DI-05165","synonyms":null,"cross_references":"MeSH; D000309.","definition":"A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. ","keywords":null},{"identifier":"Gaucher disease perinatal lethal.","acronym":"GDPL.","accession":"DI-02151","synonyms":null,"cross_references":"MedGen; C1842704.","definition":"Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism. ","keywords":null},{"identifier":"Gaucher disease, atypical, due to saposin C deficiency.","acronym":"GDSAPC.","accession":"DI-01196","synonyms":null,"cross_references":"MeSH; D005776.","definition":"A disease characterized by marked glucosylceramide accumulation in the spleen without having a deficiency of glucosylceramide-beta glucosidase characteristic of classic Gaucher disease. Gaucher disease is a lysosomal storage disorder characterized by skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. ","keywords":null},{"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":"Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development.","acronym":"HGPPS2.","accession":"DI-05031","synonyms":null,"cross_references":"MeSH; D015835.","definition":"An autosomal recessive neurologic disorder characterized by global developmental delay, delayed walking, intellectual disability, horizontal gaze palsy, and childhood-onset progressive scoliosis. ","keywords":"KW-0991:Intellectual disability.; "},{"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":"Angioedema, hereditary, 8.","acronym":"HAE8.","accession":"DI-06128","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. HAE8 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Geleophysic dysplasia 3.","acronym":"GPHYSD3.","accession":"DI-05159","synonyms":null,"cross_references":"MeSH; D004392.","definition":"A form of geleophysic dysplasia, a rare skeletal disease characterized by severe short stature, short hands and feet, and joint limitations. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include skin thickening, progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. GPHYSD3 inheritance is autosomal dominant. ","keywords":"KW-0242:Dwarfism.; "},{"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":"Pontocerebellar hypoplasia 2C.","acronym":"PCH2C.","accession":"DI-02178","synonyms":null,"cross_references":"MeSH; D002526.","definition":"A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. ","keywords":"KW-0523:Neurodegeneration.; "}]}