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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3120&ordering=-synonyms",
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"results": [
{
"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 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": "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": "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": "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": "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": "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": "Neurodevelopmental disorder with microcephaly, short stature, and speech delay.",
"acronym": "NEDMISS.",
"accession": "DI-06499",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, short stature, severely impaired intellectual development, microcephaly, poor or absent speech, and behavioral abnormalities including autistic features and aggressive behavior. ",
"keywords": "KW-0242:Dwarfism.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Neurodegeneration due to cerebral folate transport deficiency.",
"acronym": "NCFTD.",
"accession": "DI-02630",
"synonyms": null,
"cross_references": "MeSH; D019636.",
"definition": "An autosomal recessive neurodegenerative disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy and leukodystrophy. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"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": "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": "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 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": "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": "Inflammatory bowel disease 29.",
"acronym": "IBD29.",
"accession": "DI-05306",
"synonyms": null,
"cross_references": "MeSH; D015212.",
"definition": "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 62.",
"acronym": "IMD62.",
"accession": "DI-05587",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive, primary immunologic disorder characterized by recurrent severe respiratory tract infections and bronchiectasis, due to antibody deficiency. Affected individuals have an abnormal B cell immunophenotype, with low levels of circulating memory B cells. ",
"keywords": null
},
{
"identifier": "Tropical calcific pancreatitis.",
"acronym": "TCP.",
"accession": "DI-02394",
"synonyms": null,
"cross_references": "MedGen; C1842402.",
"definition": "Idiopathic, juvenile, nonalcoholic form of chronic pancreatitis widely prevalent in several tropical countries. It can be associated with fibrocalculous pancreatic diabetes (FCPD) depending on both environmental and genetic factors. TCP differs from alcoholic pancreatitis by a much younger age of onset, pancreatic calcification, a high incidence of insulin dependent but ketosis resistant diabetes mellitus, and an exceptionally high incidence of pancreatic cancer. ",
"keywords": null
}
]
}