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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2020&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1980&ordering=synonyms",
"results": [
{
"identifier": "Glutaric aciduria 3.",
"acronym": "GA3.",
"accession": "DI-00516",
"synonyms": "GA III.; Glutaryl-CoA oxidase deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "A metabolic disorder due to peroxisomal glutaryl-CoA oxidase deficiency and characterized by the excretion of abnormal quantities of glutaric acid but low 3-hydroxyglutaric acid. ",
"keywords": "KW-0316:Glutaricaciduria.; "
},
{
"identifier": "Galactosemia 2.",
"acronym": "GALAC2.",
"accession": "DI-01643",
"synonyms": "Galactokinase deficiency.; Galactokinase deficiency with cataracts.; Galactosemia II.; GALK deficiency.; ",
"cross_references": "MeSH; D005693.",
"definition": "A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC2 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Mucopolysaccharidosis 4A.",
"acronym": "MPS4A.",
"accession": "DI-00778",
"synonyms": "Galactosamine-6-sulfatase deficiency.; GALNS deficiency.; Morquio's syndrome A.; Morquio A disease.; Morquio syndrome A.; MPS IVA.; Mucopolysaccharidosis type IVA.; ",
"cross_references": "MeSH; D009085.",
"definition": "A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. ",
"keywords": "KW-0510:Mucopolysaccharidosis.; "
},
{
"identifier": "Galactosemia 1.",
"acronym": "GALAC1.",
"accession": "DI-01642",
"synonyms": "Galactose-1-phosphate uridylyltransferase deficiency.; Galactosemia, classic.; Galactosemia, Duarte variant.; Galactosemia I.; GALT deficiency.; ",
"cross_references": "MeSH; D005693.",
"definition": "A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC1 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Galactosemia 3.",
"acronym": "GALAC3.",
"accession": "DI-01534",
"synonyms": "Galactose epimerase deficiency.; Galactosemia III.; GALE deficiency.; UDP-galactose-4-epimerase deficiency.; ",
"cross_references": "MeSH; D005693.",
"definition": "A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC3 is an autosomal recessive form caused by galactose epimerase deficiency. It can manifest as benign, peripheral form with mild symptoms and enzymatic deficiency in circulating blood cells only. A second form, known as generalized epimerase deficiency, is characterized by undetectable levels of enzyme activity in all tissues and severe clinical features, including restricted growth and intellectual disability. ",
"keywords": null
},
{
"identifier": "Galactosemia 4.",
"acronym": "GALAC4.",
"accession": "DI-05839",
"synonyms": "Galactosemia IV.; Galactose mutarotase deficiency.; ",
"cross_references": "MeSH; D005693.",
"definition": "A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC4 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Krabbe disease.",
"acronym": "KRB.",
"accession": "DI-00647",
"synonyms": "Galactosylceramide beta-galactosidase deficiency.; GALC deficiency.; GCL.; GLD.; Globoid cell leukoencephalopathy.; ",
"cross_references": "MeSH; D007965.",
"definition": "An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Tn polyagglutination syndrome.",
"acronym": "TNPS.",
"accession": "DI-02372",
"synonyms": "Galactosyltransferase deficiency.; Tn syndrome.; ",
"cross_references": "MeSH; D006402.",
"definition": "A clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia. However, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. ",
"keywords": null
},
{
"identifier": "Glutathionuria.",
"acronym": "GLUTH.",
"accession": "DI-01675",
"synonyms": "Gamma-glutamyltransferase deficiency.; Gamma-glutamyltranspeptidase deficiency.; GGT deficiency.; GTG deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "A very rare, autosomal recessive metabolic disorder characterized by the presence of glutathione in the urine, due to generalized gamma- glutamyl transpeptidase deficiency. Most patients manifest mild to moderate intellectual disability, and behavioral disturbance. Seizures, tremor, marfanoid features and strabismus are observed in some patients. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neuromyotonia and axonal neuropathy, autosomal recessive.",
"acronym": "NMAN.",
"accession": "DI-03603",
"synonyms": "Gamstorp-Wohlfart syndrome.; Myokymia myotonia and muscle wasting.; ",
"cross_references": "MeSH; D020386.",
"definition": "An autosomal recessive neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 and distal hereditary motor neuropathy. Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Giant axonal neuropathy 1, autosomal recessive.",
"acronym": "GAN1.",
"accession": "DI-01658",
"synonyms": "GAN.; ",
"cross_references": "MeSH; D015417.",
"definition": "A severe autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsies are the hallmarks of this neurodegenerative disorder. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "GM1-gangliosidosis 3.",
"acronym": "GM1G3.",
"accession": "DI-00534",
"synonyms": "Gangliosidosis generalized GM1 chronic type.; Gangliosidosis generalized GM1 type 3.; GM1-gangliosidosis generalized adult type.; ",
"cross_references": "MeSH; D016537.",
"definition": "A gangliosidosis with a variable phenotype. Patients show mild skeletal abnormalities, dysarthria, gait disturbance, dystonia and visual impairment. Visceromegaly is absent. Intellectual deficit can initially be mild or absent but progresses over time. Inheritance is autosomal recessive. ",
"keywords": "KW-0331:Gangliosidosis.; "
},
{
"identifier": "GM1-gangliosidosis 2.",
"acronym": "GM1G2.",
"accession": "DI-00533",
"synonyms": "Gangliosidosis generalized GM1 late infantile type.; Gangliosidosis generalized GM1 type 2.; GM1-gangliosidosis generalized juvenile type.; ",
"cross_references": "MeSH; D016537.",
"definition": "A gangliosidosis characterized by onset between ages 1 and 5. The main symptom is locomotor ataxia, ultimately leading to a state of decerebration with epileptic seizures. Patients do not display the skeletal changes associated with the infantile form, but they nonetheless excrete elevated amounts of beta-linked galactose-terminal oligosaccharides. Inheritance is autosomal recessive. ",
"keywords": "KW-0331:Gangliosidosis.; "
},
{
"identifier": "Diffuse gastric and lobular breast cancer syndrome.",
"acronym": "DGLBC.",
"accession": "DI-01645",
"synonyms": "Gastric cancer familial diffuse.; Gastric cancer familial diffuse and cleft lip with or without cleft palate.; HDGC.; Hereditary diffuse gastric cancer.; ",
"cross_references": "MeSH; D013274.",
"definition": "A cancer predisposition syndrome with increased susceptibility to diffuse gastric cancer. Diffuse gastric cancer is a malignant disease characterized by poorly differentiated infiltrating lesions resulting in thickening of the stomach. Malignant tumors start in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. In addition to gastric cancer, most female mutation carriers develop lobular carcinoma of the breast. ",
"keywords": null
},
{
"identifier": "Gastric cancer.",
"acronym": "GASC.",
"accession": "DI-02971",
"synonyms": "Gastric cancer intestinal.; Stomach cancer.; ",
"cross_references": "MeSH; D013274.",
"definition": "A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. ",
"keywords": null
},
{
"identifier": "Lymphoma, mucosa-associated lymphoid type.",
"acronym": "MALTOMA.",
"accession": "DI-04738",
"synonyms": "Gastric lymphoma, primary.; Lymphoma, MALT, somatic.; MALT lymphoma.; Marginal zone B-cell lymphoma.; Primary gastric lymphoma.; ",
"cross_references": "MeSH; D018442.",
"definition": "A subtype of non-Hodgkin lymphoma, originating in mucosa-associated lymphoid tissue. MALT lymphomas occur most commonly in the gastro- intestinal tract but have been described in a variety of extranodal sites including the ocular adnexa, salivary gland, thyroid, lung, thymus, and breast. Histologically, they are characterized by an infiltrate of small to medium-sized lymphocytes with abundant cytoplasm and irregularly shaped nuclei. Scattered transformed blasts (large cells) also are present. Non-malignant reactive follicles are observed frequently. A pivotal feature is the presence of lymphoepithelial lesions, with invasion and partial destruction of mucosal glands and crypts by aggregates of tumor cells. ",
"keywords": null
},
{
"identifier": "GIST-plus syndrome.",
"acronym": "GISTPS.",
"accession": "DI-05623",
"synonyms": "Gastrointestinal stromal tumor/GIST-plus syndrome.; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal.; ",
"cross_references": "MeSH; D046152.",
"definition": "A disorder characterized by multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor, inflammatory fibroid polyps, and fibroid tumors. Additional features are coarse facies and skin, broad hands and feet, and premature tooth loss. GISTPS is an autosomal dominant disease with incomplete penetrance. Gastrointestinal stromal tumor and inflammatory fibroid polyps may also occur in isolation. ",
"keywords": null
},
{
"identifier": "Gaucher disease 3C.",
"acronym": "GD3C.",
"accession": "DI-01650",
"synonyms": "Gaucher-like disease.; Pseudo-Gaucher disease.; ",
"cross_references": "MeSH; D005776.",
"definition": "A variant of subacute neuronopathic Gaucher disease 3 associated with cardiovascular calcifications. ",
"keywords": null
},
{
"identifier": "Non-ketotic hyperglycinemia.",
"acronym": "NKH.",
"accession": "DI-02061",
"synonyms": "GCE.; Glycine encephalopathy.; ",
"cross_references": "MedGen; C0751748.",
"definition": "Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms. ",
"keywords": null
},
{
"identifier": "Generalized epilepsy with febrile seizures plus 2.",
"acronym": "GEFSP2.",
"accession": "DI-00506",
"synonyms": "GEFS+2.; GEFS+ type 2.; ",
"cross_references": "MeSH; D004829.",
"definition": "A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. ",
"keywords": "KW-0887:Epilepsy.; "
}
]
}