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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1560&ordering=-synonyms",
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{
"identifier": "Cardiomyopathy, dilated, 1CC.",
"acronym": "CMD1CC.",
"accession": "DI-02530",
"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": "Diamond-Blackfan anemia 3.",
"acronym": "DBA3.",
"accession": "DI-00393",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Craniometadiaphyseal osteosclerosis with hip dysplasia.",
"acronym": "CMDOH.",
"accession": "DI-06785",
"synonyms": null,
"cross_references": "MeSH; D010026.",
"definition": "An autosomal recessive skeletal dysplasia characterized by macrocephaly, cranial hyperostosis, and vertebral endplate sclerosis. Other frequent findings include hip dysplasia, heart malformations, variable developmental delay, and hematological anomalies. Bone biopsy shows evidence of increased osteoblast and reduced osteoclast function at the growth plate resorption zone, leading to coarse trabeculae. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1D.",
"acronym": "CMD1D.",
"accession": "DI-00213",
"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": "Craniometaphyseal dysplasia, autosomal recessive.",
"acronym": "CMDR.",
"accession": "DI-03897",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. ",
"keywords": null
},
{
"identifier": "Cranioosteoarthropathy.",
"acronym": "COA.",
"accession": "DI-01446",
"synonyms": null,
"cross_references": "MeSH; D010004.",
"definition": "A form of osteoarthropathy characterized by swelling of the joints, digital clubbing, hyperhidrosis, delayed closure of the fontanels, periostosis, and variable patent ductus arteriosus. Pachydermia is not a prominent feature. ",
"keywords": null
},
{
"identifier": "Familial adenomatous polyposis 4.",
"acronym": "FAP4.",
"accession": "DI-04840",
"synonyms": null,
"cross_references": "MeSH; D018256.",
"definition": "A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. FAP4 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Exercise intolerance, riboflavin-responsive.",
"acronym": "RREI.",
"accession": "DI-04667",
"synonyms": null,
"cross_references": "MeSH; D009135.",
"definition": "A riboflavin-responsive form of exercise intolerance, a condition characterized by failure to maintain an expected level of force during sustained or repeated muscle contraction, resulting in an overwhelming sense of tiredness, lack of energy and feeling of exhaustion. RREI transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": null
},
{
"identifier": "Craniosynostosis 3.",
"acronym": "CRS3.",
"accession": "DI-03808",
"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": "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": "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": "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, 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": "Fanconi renotubular syndrome 2.",
"acronym": "FRTS2.",
"accession": "DI-02851",
"synonyms": null,
"cross_references": "MeSH; D005198.",
"definition": "A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS2 inheritance is autosomal recessive. ",
"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": "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": "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": "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": "Joubert syndrome 13.",
"acronym": "JBTS13.",
"accession": "DI-03232",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ",
"keywords": "KW-0979:Joubert syndrome.; "
}
]
}