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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1760&ordering=-synonyms",
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"results": [
{
"identifier": "Atrial fibrillation, familial, 3.",
"acronym": "ATFB3.",
"accession": "DI-00146",
"synonyms": null,
"cross_references": "MeSH; D001281.",
"definition": "An autosomal dominant form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ",
"keywords": "KW-1020:Atrial fibrillation.; "
},
{
"identifier": "Deafness, autosomal recessive, 94.",
"acronym": "DFNB94.",
"accession": "DI-05552",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural deafness characterized by prelingual, profound, bilateral hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 97.",
"acronym": "DFNB97.",
"accession": "DI-04599",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 98.",
"acronym": "DFNB98.",
"accession": "DI-03535",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 99.",
"acronym": "DFNB99.",
"accession": "DI-05585",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by prelingual, bilateral, severe-to-profound sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, cataract, impaired intellectual development, and polyneuropathy.",
"acronym": "DCIDP.",
"accession": "DI-06133",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "An autosomal recessive disease characterized by early onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area. ",
"keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, congenital heart defects, and posterior embryotoxon.",
"acronym": "DCHE.",
"accession": "DI-05252",
"synonyms": null,
"cross_references": "MeSH; D000013.",
"definition": "An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium. Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Deafness, congenital, and adult-onset progressive leukoencephalopathy.",
"acronym": "DEAPLE.",
"accession": "DI-06032",
"synonyms": null,
"cross_references": "MeSH; D056784.",
"definition": "An autosomal recessive, complex neurodegenerative disorder characterized by congenital sensorineural deafness, and progressive motor and cognitive decline apparent in young adulthood. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy. More variable additional features may include visual impairment and axonal peripheral neuropathy. Premature death may occurr in some patients. ",
"keywords": "KW-0209:Deafness.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Deafness, congenital, unilateral or asymmetric.",
"acronym": "DCUA.",
"accession": "DI-04598",
"synonyms": null,
"cross_references": "MeSH; D046088.",
"definition": "An autosomal dominant form of non-syndromic, sensorineural deafness characterized by inability to hear affecting one ear. Some patients suffers from asymmetric, bilateral hearing loss. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Dyschromatosis universalis hereditaria 1.",
"acronym": "DUH1.",
"accession": "DI-05519",
"synonyms": null,
"cross_references": "MeSH; D010859.",
"definition": "A form of dyschromatosis universalis, an autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. ",
"keywords": null
},
{
"identifier": "Atrial fibrillation, familial, 7.",
"acronym": "ATFB7.",
"accession": "DI-00149",
"synonyms": null,
"cross_references": "MeSH; D001281.",
"definition": "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ",
"keywords": "KW-1020:Atrial fibrillation.; "
},
{
"identifier": "Deafness, dystonia, and cerebral hypomyelination.",
"acronym": "DDCH.",
"accession": "DI-03930",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An X-linked recessive syndrome characterized by sensorineural deafness, intellectual disability, dysmorphic facial features, dystonia, pyramidal signs, almost no psychomotor development, and hypomyelination on brain imaging. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; KW-1023:Dystonia.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1U.",
"acronym": "CMD1U.",
"accession": "DI-02967",
"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": "Deafness, sensorineural, mitochondrial.",
"acronym": "DFNM.",
"accession": "DI-02887",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness with maternal inheritance. Affected individuals manifest progressive, postlingual, sensorineural hearing loss involving high frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Atrial fibrillation, familial, 8.",
"acronym": "ATFB8.",
"accession": "DI-06801",
"synonyms": null,
"cross_references": "MeSH; D001281.",
"definition": "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ",
"keywords": "KW-1020:Atrial fibrillation.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal dominant, 3.",
"acronym": "DKCA3.",
"accession": "DI-03165",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Dystonia 28, childhood-onset.",
"acronym": "DYT28.",
"accession": "DI-04935",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT28 is an autosomal dominant, progressive form characterized by onset in the first decade of life and variable severity. Dystonia begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 90.",
"acronym": "DEE90.",
"accession": "DI-06025",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE90 is an X-linked form characterized by onset of refractory seizures in the first days or months of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, X-linked, 6.",
"acronym": "DFNX6.",
"accession": "DI-04012",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A non-syndromic form of sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Macular degeneration, atrophic, X-linked.",
"acronym": "MDXLA.",
"accession": "DI-03005",
"synonyms": null,
"cross_references": "MeSH; D008268.",
"definition": "An ocular disorder characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. Some patients manifest extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) show normal cone and rod responses in some affected males despite advanced macular degeneration. ",
"keywords": null
}
]
}