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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2600",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2560",
"results": [
{
"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": "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": "GM2-gangliosidosis 1.",
"acronym": "GM2G1.",
"accession": "DI-00536",
"synonyms": "GM2-gangliosidosis B variant.; HEXA deficiency.; Hexosaminidase A deficiency.; Tay-Sachs disease.; Tay-Sachs disease pseudo-AB variant.; Tay-Sachs disease variant B1.; TSD.; ",
"cross_references": "MeSH; D013661.",
"definition": "An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset). ",
"keywords": "KW-0331:Gangliosidosis.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "GM2-gangliosidosis 2.",
"acronym": "GM2G2.",
"accession": "DI-00537",
"synonyms": "Hexosaminidase A and B deficiency.; Sandhoff disease.; SD.; ",
"cross_references": "MeSH; D012497.",
"definition": "An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. Clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula. ",
"keywords": "KW-0331:Gangliosidosis.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "GM2-gangliosidosis AB.",
"acronym": "GM2GAB.",
"accession": "DI-00535",
"synonyms": "GM2 activator deficiency.; GM2-gangliosidosis AB variant.; Hexosaminidase activator deficiency.; Tay-Sachs disease AB variant.; ",
"cross_references": "MeSH; D049290.",
"definition": "An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the presence of both normal hexosaminidase A and B. ",
"keywords": "KW-0331:Gangliosidosis.; "
},
{
"identifier": "GNAS hyperfunction.",
"acronym": "GNASHYP.",
"accession": "DI-01678",
"synonyms": null,
"cross_references": "MedGen; C1841727.",
"definition": "This condition is characterized by increased trauma-related bleeding tendency, prolonged bleeding time, brachydactyly and intellectual disability. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded activation of the XLas isoforms. ",
"keywords": null
},
{
"identifier": "Gnathodiaphyseal dysplasia.",
"acronym": "GDD.",
"accession": "DI-01679",
"synonyms": "Gnathodiaphyseal sclerosis.; Osteogenesis imperfecta with unusual skeletal lesions.; ",
"cross_references": "MeSH; D010013.",
"definition": "Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity. ",
"keywords": "KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Goiter multinodular 1, with or without Sertoli-Leydig cell tumors.",
"acronym": "MNG1.",
"accession": "DI-03075",
"synonyms": "Euthyroid goiter.; Goiter nontoxic with intrathyroidal calcification.; Goiter non-toxic with intrathyroidal calcification.; Multinodular goiter adolescent.; Simple goiter.; ",
"cross_references": "MeSH; D006044.",
"definition": "A common disorder characterized by nodular overgrowth of the thyroid gland. Some individuals may also develop Sertoli-Leydig cell tumors, usually of the ovary. ",
"keywords": null
},
{
"identifier": "Goldberg-Shprintzen syndrome.",
"acronym": "GOSHS.",
"accession": "DI-01681",
"synonyms": "Goldberg-Shprintzen megacolon syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease. ",
"keywords": "KW-0367:Hirschsprung disease.; "
},
{
"identifier": "Gordon Holmes syndrome.",
"acronym": "GDHS.",
"accession": "DI-03788",
"synonyms": "CAHH.; Cerebellar ataxia and hypogonadotropic hypogonadism.; Deficiency of luteinizing hormone-releasing hormone with ataxia.; LHRH deficiency and ataxia.; ",
"cross_references": "MeSH; D007006.",
"definition": "A disease characterized by cerebellar symptoms and signs of sex steroid deficiency. Clinical features include cerebellar and brain stem atrophy, cerebellar ataxia, hypothalamic LHRH deficiency, hypogonadotrophic hypogonadism, lack of secondary sexual characteristics, and infertility. ",
"keywords": "KW-1016:Hypogonadotropic hypogonadism.; "
},
{
"identifier": "Gracile bone dysplasia.",
"acronym": "GCLEB.",
"accession": "DI-03712",
"synonyms": "Habrodysplasia.; Lethal skeletal dysplasia with gracile bones.; Osteocraniosplenic syndrome.; Osteocraniostenosis.; ",
"cross_references": "MeSH; D019465.",
"definition": "A perinatally lethal condition characterized by narrowing of the medullary cavity of the long bones and of the skull, gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia. Most affected individuals who survive beyond the perinatal period develop hypocalcemia with low parathyroid hormone levels. ",
"keywords": null
},
{
"identifier": "GRACILE syndrome.",
"acronym": "GRACILE.",
"accession": "DI-01684",
"synonyms": null,
"cross_references": "MedGen; C1864002.",
"definition": "GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death'. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. ",
"keywords": null
},
{
"identifier": "Grange syndrome.",
"acronym": "GRNG.",
"accession": "DI-04954",
"synonyms": "Arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly.; Grange occlusive arterial syndrome.; ",
"cross_references": "MeSH; D001157.",
"definition": "An autosomal recessive syndrome of stenosis or occlusion of multiple arteries, including renal, abdominal, cerebral and probably coronary arteries, congenital heart defects, brachydactyly, syndactyly, bone fragility, and learning disabilities. ",
"keywords": null
},
{
"identifier": "Granulomatous disease, chronic, autosomal recessive, 1.",
"acronym": "CGD1.",
"accession": "DI-00305",
"synonyms": "Chronic granulomatous disease autosomal recessive cytochrome b-positive type I.; Chronic granulomatous disease due to NCF1 deficiency.; Deficiency of neutrophil cytosol factor 1.; NCF1 deficiency.; p47-PHOX deficiency.; SOC2 deficiency.; Soluble oxidase component II deficiency.; ",
"cross_references": "MeSH; D006105.",
"definition": "A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. ",
"keywords": "KW-0161:Chronic granulomatous disease.; "
},
{
"identifier": "Granulomatous disease, chronic, autosomal recessive, 2.",
"acronym": "CGD2.",
"accession": "DI-00306",
"synonyms": "Chronic granulomatous disease autosomal recessive cytochrome b-positive type II.; Deficiency of neutrophil cytosol factor 2.; NCF2 deficiency.; p67-PHOX deficiency.; ",
"cross_references": "MeSH; D006105.",
"definition": "A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. ",
"keywords": "KW-0161:Chronic granulomatous disease.; "
},
{
"identifier": "Granulomatous disease, chronic, autosomal recessive, 3.",
"acronym": "CGD3.",
"accession": "DI-03170",
"synonyms": "CGD autosomal recessive cytochrome b-positive type III.; Chronic granulomatous disease autosomal recessive cytochrome b-positive type III.; Granulomatous disease chronic due to NCF4 deficiency.; ",
"cross_references": "MeSH; D006105.",
"definition": "A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. ",
"keywords": "KW-0161:Chronic granulomatous disease.; "
},
{
"identifier": "Granulomatous disease, chronic, autosomal recessive, 4.",
"acronym": "CGD4.",
"accession": "DI-00304",
"synonyms": "CGD due to deficiency of alpha subunit of cytochrome b.; Chronic granulomatous disease autosomal recessive cytochrome b-negative.; CYBA deficiency.; Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive.; ",
"cross_references": "MeSH; D006105.",
"definition": "A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. ",
"keywords": "KW-0161:Chronic granulomatous disease.; "
},
{
"identifier": "Granulomatous disease, chronic, autosomal recessive, 5.",
"acronym": "CGD5.",
"accession": "DI-05870",
"synonyms": "Granulomatous disease, chronic, due to CYBC1 deficiency.; ",
"cross_references": "MeSH; D006105.",
"definition": "A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. CGD5 is an autosomal recessive form characterized by onset of recurrent infections and severe colitis in the first decade of life. Clinical manifestations include increased susceptibility to catalase-positive organisms, features of inflammatory bowel disease, lymphopenia, lymphadenitis, and autoinflammatory symptoms in some patients. ",
"keywords": "KW-0161:Chronic granulomatous disease.; "
},
{
"identifier": "Granulomatous disease, chronic, X-linked.",
"acronym": "CGDX.",
"accession": "DI-00307",
"synonyms": "Chronic granulomatous disease cytochrome b-negative X-linked.; Chronic granulomatous disease cytochrome b-positive X-linked.; ",
"cross_references": "MeSH; D006105.",
"definition": "A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. ",
"keywords": "KW-0161:Chronic granulomatous disease.; "
},
{
"identifier": "Gray platelet syndrome.",
"acronym": "GPS.",
"accession": "DI-03181",
"synonyms": "BDPLT4.; Bleeding disorder platelet-type 4.; Grey platelet syndrome.; Platelet alpha-granule deficiency.; ",
"cross_references": "MeSH; D055652.",
"definition": "A rare platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. ",
"keywords": null
}
]
}