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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1780&ordering=-synonyms",
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"results": [
{
"identifier": "Deafness, Y-linked 2.",
"acronym": "DFNY2.",
"accession": "DI-05525",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic 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. DFNY2 patients show bilateral symmetric hearing loss ranging from mild to severe, with onset in the third to fifth decades of life. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cataract 39, multiple types.",
"acronym": "CTRCT39.",
"accession": "DI-03806",
"synonyms": null,
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT39 includes lamellar, anterior polar, and complete cataracts. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Atrial septal defect 2.",
"acronym": "ASD2.",
"accession": "DI-00150",
"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. Patients show other heart abnormalities including ventricular and atrioventricular septal defects, pulmonary valve thickening or insufficiency of the cardiac valves. The disease is not associated with defects in the cardiac conduction system or non- cardiac abnormalities. ",
"keywords": "KW-0976:Atrial septal defect.; "
},
{
"identifier": "Epilepsy, familial focal, with variable foci 2.",
"acronym": "FFEVF2.",
"accession": "DI-04832",
"synonyms": null,
"cross_references": "MeSH; D004828.",
"definition": "An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Cataract 50 with or without glaucoma.",
"acronym": "CTRCT50.",
"accession": "DI-06610",
"synonyms": null,
"cross_references": "MeSH; D002386.",
"definition": "A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT50 is an autosomal dominant form characterized by early onset. Affected individuals may also exhibit high-tension glaucoma and variable anterior segment defects. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Desmosterolosis.",
"acronym": "DESMOS.",
"accession": "DI-01482",
"synonyms": null,
"cross_references": "MedGen; C1865596.",
"definition": "Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells. ",
"keywords": null
},
{
"identifier": "Atrial septal defect 4.",
"acronym": "ASD4.",
"accession": "DI-00152",
"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. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities. ",
"keywords": "KW-0976:Atrial septal defect.; "
},
{
"identifier": "Epilepsy, idiopathic generalized 15.",
"acronym": "EIG15.",
"accession": "DI-05509",
"synonyms": null,
"cross_references": "MeSH; D004829.",
"definition": "An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG15 is characterized by onset of variable types of seizures in the first decade of life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 106.",
"acronym": "DEE106.",
"accession": "DI-06501",
"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. DEE106 is an autosomal recessive form characterized by onset of seizures in the first year of life. Affected individuals have profound global developmental delay, limited ability to move, and severely impaired intellectual development with absent speech. Non- specific brain abnormalities may be observed on MRI. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Delayed sleep phase syndrome.",
"acronym": "DSPS.",
"accession": "DI-03211",
"synonyms": null,
"cross_references": "MeSH; D020178.",
"definition": "A circadian rhythm sleep disorder characterized by sleep-onset insomnia and difficulty in awakening at the desired time. Patients with DSPS have chronic difficulty in adjusting their sleep-onset and wake-up times to occupational, school, and social activities. ",
"keywords": null
},
{
"identifier": "Delpire-McNeill syndrome.",
"acronym": "DELMNES.",
"accession": "DI-05959",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia with delayed or absent walking, bilateral sensorineural deafness, poor or absent speech, and mild to severe intellectual disability. Additional variable features may include spasticity or minor involvement of other organ systems, such as hip dislocation or ventricular septal defect. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Atrial septal defect 5.",
"acronym": "ASD5.",
"accession": "DI-02497",
"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": "Cataract 42.",
"acronym": "CTRCT42.",
"accession": "DI-04171",
"synonyms": null,
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Fatal familial insomnia.",
"acronym": "FFI.",
"accession": "DI-01607",
"synonyms": null,
"cross_references": "MedGen; C0206042.",
"definition": "Autosomal dominant disorder and is characterized by neuronal degeneration limited to selected thalamic nuclei and progressive insomnia. ",
"keywords": null
},
{
"identifier": "Dent disease 2.",
"acronym": "DENT2.",
"accession": "DI-00386",
"synonyms": null,
"cross_references": "MeSH; D015499.",
"definition": "An X-linked renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low- molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones. ",
"keywords": null
},
{
"identifier": "Cataract 43.",
"acronym": "CTRCT43.",
"accession": "DI-04361",
"synonyms": null,
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Dentatorubral-pallidoluysian atrophy.",
"acronym": "DRPLA.",
"accession": "DI-01476",
"synonyms": null,
"cross_references": "MedGen; C2931846.",
"definition": "Autosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum, glogus pallidus and Luys'body. Clinical features are myoclonus epilepsy, dementia, and cerebellar ataxia. Onset of the disease occurs usually in the second decade of life and death in the fourth. ",
"keywords": null
},
{
"identifier": "Atrial septal defect 6.",
"acronym": "ASD6.",
"accession": "DI-02498",
"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": "Dentici-Novelli neurodevelopmental syndrome.",
"acronym": "DENNED.",
"accession": "DI-06425",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Disease severity is variable. More severely affected individuals have profound intellectual disability, axial hypotonia, peripheral spasticity, prenatal and postnatal microcephaly, early-onset seizures, brain imaging abnormalities, and are unable to walk or speak. Patients with a less severe phenotype may achieve some developmental goals and show less severe intellectual disability. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Marinesco-Sjoegren syndrome.",
"acronym": "MSS.",
"accession": "DI-01938",
"synonyms": null,
"cross_references": "MedGen; C0024814.",
"definition": "Autosomal recessive multisystem disorder which is characterized by cerebellar ataxia due to cerebellar atrophy, with Purkinje and granule cell loss and myopathy featuring marked muscle replacement with fat and connective tissue. Other cardinal features include bilateral cataracts, hypergonadotrophic hypogonadism and mild to severe intellectual disability. Skeletal abnormalities, short stature, dysarthria, strabismus and nystagmus are also frequent findings. Mutational inactivation of this protein may result in ER stress- induced cell death signaling or malfunctioning chaperone machineries that mishandle client proteins which are critical for the organs targeted in MSS. ",
"keywords": null
}
]
}