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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4520&ordering=synonyms",
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{
"identifier": "Cardiomyopathy, dilated, 1I.",
"acronym": "CMD1I.",
"accession": "DI-00216",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arthrogryposis, distal, 5D.",
"acronym": "DA5D.",
"accession": "DI-03688",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "An autosomal recessive form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5D is characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, clubfoot and/or a calcaneovalgus deformity, extension contractures of the knee, unilateral ptosis or ptosis that is more severe on one side, a round- shaped face, arched eyebrows, a bulbous upturned nose, and micrognathia. Patients do not have ophthalmoplegia. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 58.",
"acronym": "IMD58.",
"accession": "DI-05329",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by a variety of infectious diseases, including mycobacterial diseases, mucocutaneous candidiasis, silent but detectable EBV viremia, and staphylococcal diseases. Patients suffer from dermatitis, esophagitis, recurrent skin abscesses and chest infections. Immunologic analysis shows defective T-cell function and deficient CD3/CD28 stimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1HH.",
"acronym": "CMD1HH.",
"accession": "DI-03042",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Immunodeficiency 55.",
"acronym": "IMD55.",
"accession": "DI-05177",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by chronic neutropenia, natural killer cell deficiency, recurrent viral and bacterial infections, and intrauterine growth retardation. Postnatal growth retardation is present in most patients. ",
"keywords": null
},
{
"identifier": "Creutzfeldt-Jakob disease.",
"acronym": "CJD.",
"accession": "DI-01448",
"synonyms": null,
"cross_references": "MedGen; C1969957.",
"definition": "Occurs primarily as a sporadic disorder (1 per million), while 10-15% are familial. Accidental transmission of CJD to humans appears to be iatrogenic (contaminated human growth hormone (HGH), corneal transplantation, electroencephalographic electrode implantation, etc.). Epidemiologic studies have failed to implicate the ingestion of infected animal meat in the pathogenesis of CJD in human. The triad of microscopic features that characterize the prion diseases consists of (1) spongiform degeneration of neurons, (2) severe astrocytic gliosis that often appears to be out of proportion to the degree of nerve cell loss, and (3) amyloid plaque formation. CJD is characterized by progressive dementia and myoclonic seizures, affecting adults in mid- life. Some patients present sleep disorders, abnormalities of high cortical function, cerebellar and corticospinal disturbances. The disease ends in death after a 3-12 months illness. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 53.",
"acronym": "IMD53.",
"accession": "DI-05045",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency apparent from early infancy and resulting in recurrent infections, severe autoimmune skin disease rheumatoid arthritis, and failure to thrive. Immunologic workup shows increased CD4+/CD8+ ratio, impaired T-cell proliferative response to multiple antigen, T-cell developmental and functional defects, and impaired ability to produce specific immunoglobulins. ",
"keywords": null
},
{
"identifier": "Craniotubular dysplasia, Ikegawa type.",
"acronym": "CTDI.",
"accession": "DI-06325",
"synonyms": null,
"cross_references": "MeSH; D001847.",
"definition": "An autosomal recessive, sclerosing bone disorder characterized by proportional or short-limbed short stature in association with macrocephaly, dolichocephaly, or prominent forehead. Radiography shows hyperostosis of the calvaria and skull base, with metadiaphyseal undermodeling of the long tubular bones and mild shortening and diaphyseal broadening of the short tubular bones. Affected individuals experience progressive vision loss in the first decade of life due to optic nerve compression, and deafness may develop in the second decade of life. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1GG.",
"acronym": "CMD1GG.",
"accession": "DI-02945",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Immunodeficiency 52.",
"acronym": "IMD52.",
"accession": "DI-05013",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by T- cell abnormalities, resulting in severe combined immunodeficiency, autoimmune disease, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy. ",
"keywords": null
},
{
"identifier": "Craniosynostosis 6.",
"acronym": "CRS6.",
"accession": "DI-04561",
"synonyms": null,
"cross_references": "MeSH; D003398.",
"definition": "A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Immunodeficiency 46.",
"acronym": "IMD46.",
"accession": "DI-04634",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency disorder characterized by early-onset chronic diarrhea, recurrent infections, hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, and intermittent thrombocytopenia. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 45.",
"acronym": "IMD45.",
"accession": "DI-04586",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by increased susceptibility to viral infection due to impaired antiviral immunity, resulting in infection-associated encephalopathy. Affected individuals are at risk for developing fatal encephalitis after routine measles/mumps/rubella (MMR) vaccination. ",
"keywords": null
},
{
"identifier": "Craniosynostosis 5.",
"acronym": "CRS5.",
"accession": "DI-03953",
"synonyms": null,
"cross_references": "MeSH; D003398.",
"definition": "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1G.",
"acronym": "CMD1G.",
"accession": "DI-00215",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1FF.",
"acronym": "CMD1FF.",
"accession": "DI-02681",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Atrial septal defect 3.",
"acronym": "ASD3.",
"accession": "DI-00151",
"synonyms": null,
"cross_references": "MeSH; D006344.",
"definition": "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ",
"keywords": "KW-0976:Atrial septal defect.; "
},
{
"identifier": "Immunodeficiency 44.",
"acronym": "IMD44.",
"accession": "DI-04585",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by increased susceptibility to viral infection, resulting in some patients in encephalopathy and infection-associated neurologic decompensation. ",
"keywords": null
},
{
"identifier": "Craniosynostosis 4.",
"acronym": "CRS4.",
"accession": "DI-03809",
"synonyms": null,
"cross_references": "MeSH; D003398.",
"definition": "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Immunodeficiency 42.",
"acronym": "IMD42.",
"accession": "DI-04562",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by increased susceptibility to concomitant candidiasis and mycobacteriosis. Candidiasis is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida. Mycobacteriosis is characterized by infections caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non- tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. IMD42 patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections. ",
"keywords": null
}
]
}