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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6340&ordering=-synonyms",
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"results": [
{
"identifier": "Aortic valve disease 2.",
"acronym": "AOVD2.",
"accession": "DI-03529",
"synonyms": "Aortic valve stenosis.; Bicuspid aortic valve.; ",
"cross_references": "MeSH; D001024.",
"definition": "A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. ",
"keywords": null
},
{
"identifier": "Aortic valve disease 1.",
"acronym": "AOVD1.",
"accession": "DI-01186",
"synonyms": "Aortic valve disease.; BAV.; Bicuspid aortic valve.; Calcific aortic stenosis.; Calcification of aortic valve.; ",
"cross_references": "MeSH; D001024.",
"definition": "A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. ",
"keywords": null
},
{
"identifier": "Aortic aneurysm, familial thoracic 7.",
"acronym": "AAT7.",
"accession": "DI-03062",
"synonyms": "Aortic dissection familial with or without aortic aneurysm.; ",
"cross_references": "MeSH; D017545.",
"definition": "A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. ",
"keywords": "KW-0993:Aortic aneurysm.; "
},
{
"identifier": "Aortic aneurysm, familial thoracic 10.",
"acronym": "AAT10.",
"accession": "DI-04842",
"synonyms": "Aortic aneurysm, thoracic, with or without aortic dissection.; ",
"cross_references": "MeSH; D017545.",
"definition": "A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. ",
"keywords": "KW-0993:Aortic aneurysm.; "
},
{
"identifier": "Aortic aneurysm, familial thoracic 9.",
"acronym": "AAT9.",
"accession": "DI-04293",
"synonyms": "Aortic aneurysm, thoracic, with or without aortic dissection.; ",
"cross_references": "MeSH; D017545.",
"definition": "A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. ",
"keywords": "KW-0993:Aortic aneurysm.; "
},
{
"identifier": "Aortic aneurysm, familial thoracic 4.",
"acronym": "AAT4.",
"accession": "DI-00128",
"synonyms": "Aortic aneurysm/aortic dissection and patent ductus arteriosus.; FAA4.; Familial aortic aneurysm 4.; Non-syndromic thoracic aortic aneurysms and dissection.; TAAD.; Thoracic aortic aneurysms and dissection.; ",
"cross_references": "MeSH; D017545.",
"definition": "A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. ",
"keywords": "KW-0993:Aortic aneurysm.; "
},
{
"identifier": "Loeys-Dietz syndrome 4.",
"acronym": "LDS4.",
"accession": "DI-03523",
"synonyms": "Aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations.; ",
"cross_references": "MeSH; D055947.",
"definition": "An aortic aneurysm syndrome with widespread systemic involvement. LDS4 is characterized by arterial tortuosity, aortic dissection, intracranial aneurysm and subarachnoid hemorrhage, hypertelorism, bifid uvula, pectus deformity, bicuspid aortic valve, arachnodactyly, scoliosis, foot deformities, dural ectasia, joint hyperflexibility, and thin skin with easy bruising and striae. ",
"keywords": "KW-0993:Aortic aneurysm.; "
},
{
"identifier": "Stickler syndrome 1.",
"acronym": "STL1.",
"accession": "DI-01090",
"synonyms": "AOM.; Arthro-ophthalmopathy hereditary progressive.; Stickler syndrome membranous vitreous type.; Stickler syndrome type I.; Stickler syndrome vitreous type 1.; ",
"cross_references": "MeSH; D034381.",
"definition": "An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. ",
"keywords": "KW-0209:Deafness.; KW-0757:Stickler syndrome.; "
},
{
"identifier": "Atelosteogenesis 3.",
"acronym": "AO3.",
"accession": "DI-00144",
"synonyms": "AOIII.; Atelosteogenesis type III.; ",
"cross_references": "MeSH; D010009.",
"definition": "A short-limb lethal skeletal dysplasia with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations. Recurrent respiratory insufficiency and/or infections usually result in early death. ",
"keywords": null
},
{
"identifier": "Atelosteogenesis 2.",
"acronym": "AO2.",
"accession": "DI-00143",
"synonyms": "AO-II.; Atelosteogenesis type II.; Neonatal osseous dysplasia 1.; Neonatal osseous dysplasia type I.; ",
"cross_references": "MeSH; D010009.",
"definition": "A perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth. ",
"keywords": null
},
{
"identifier": "Atelosteogenesis 1.",
"acronym": "AO1.",
"accession": "DI-00142",
"synonyms": "AOI.; Atelosteogenesis type I.; Giant cell chondrodysplasia.; Spondylohumerofemoral hypoplasia.; ",
"cross_references": "MeSH; D010009.",
"definition": "A lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes which are encapsulated in fibrous tissue. ",
"keywords": null
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2.",
"acronym": "SCAN2.",
"accession": "DI-01061",
"synonyms": "AOA2.; Ataxia-ocular apraxia 2.; Ataxia-oculomotor apraxia 2.; SCAR1.; Spinocerebellar ataxia, autosomal recessive, 1.; ",
"cross_references": "MeSH; D013132.",
"definition": "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN2 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha-fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAN2 patients manifest oculomotor apraxia. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Ataxia-oculomotor apraxia syndrome.",
"acronym": "AOA.",
"accession": "DI-00138",
"synonyms": "AOA1.; Ataxia early-onset with oculomotor apraxia and hypoalbuminemia.; Ataxia-oculomotor apraxia 1.; Cerebellar ataxia early-onset with hypoalbuminemia.; EAOH.; EOCA-HA.; ",
"cross_references": "MeSH; D002524.",
"definition": "An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Townes-Brocks syndrome 1.",
"acronym": "TBS1.",
"accession": "DI-02376",
"synonyms": "Anus, imperforate, with hand, foot, and ear anomalies.; Deafness, sensorineural, with imperforate anus and thumb anomalies.; Rear syndrome.; Renal-ear-anal-radial syndrome.; Townes-Brocks branchiootorenal-like syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "A form of Townes-Brocks syndrome, a rare autosomal dominant disease characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis.",
"acronym": "ABS1.",
"accession": "DI-00046",
"synonyms": "Antley-Bixler syndrome-like phenotype with disordered steroidogenesis.; Cytochrome P450 oxidoreductase deficiency.; POR deficiency.; ",
"cross_references": "MeSH; D054882.",
"definition": "A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Antithrombin III deficiency.",
"acronym": "AT3D.",
"accession": "DI-00124",
"synonyms": "Antithrombin 3 deficiency.; Antithrombin deficiency.; Antithrombin-III deficiency.; AT-III deficiency.; THPH7.; Thrombophilia due to antithrombin-III deficiency.; ",
"cross_references": "MeSH; D020152.",
"definition": "An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I: characterized by a 50% decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations. ",
"keywords": "KW-0792:Thrombophilia.; "
},
{
"identifier": "Alpha-2-plasmin inhibitor deficiency.",
"acronym": "APLID.",
"accession": "DI-00075",
"synonyms": "Antiplasmin deficiency.; Plasmin inhibitor deficiency.; ",
"cross_references": "MeSH; D006474.",
"definition": "An autosomal recessive disorder resulting in severe hemorrhagic diathesis. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 2.",
"acronym": "CVID2.",
"accession": "DI-01371",
"synonyms": "Antibody deficiency due to TACI defect.; Hypogammaglobulinemia due to TACI deficiency.; ",
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 1.",
"acronym": "CVID1.",
"accession": "DI-01805",
"synonyms": "Antibody deficiency due to ICOS defect.; ICOS deficiency.; ",
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 6.",
"acronym": "CVID6.",
"accession": "DI-02803",
"synonyms": "Antibody deficiency due to CD81 defect.; ",
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. ",
"keywords": null
}
]
}