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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=400&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=360&ordering=-synonyms",
"results": [
{
"identifier": "Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity.",
"acronym": "T-CMVA.",
"accession": "DI-01182",
"synonyms": null,
"cross_references": "MeSH; D015551.",
"definition": "An immunological disorder characterized by oligoclonal expansion of TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe, disseminated cytomegalovirus infection and autoimmune cytopenia. ",
"keywords": null
},
{
"identifier": "Benign essential blepharospasm.",
"acronym": "BEB.",
"accession": "DI-00180",
"synonyms": null,
"cross_references": "MeSH; D001764.",
"definition": "A primary focal dystonia affecting the orbicularis oculi muscles. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. BEB usually begins in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. Patients have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids. In severe cases, this can lead to functional blindness. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Basal ganglia calcification, idiopathic, 8, autosomal recessive.",
"acronym": "IBGC8.",
"accession": "DI-05778",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 2B3.",
"acronym": "DA2B3.",
"accession": "DI-05570",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A 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. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Alport syndrome 2, autosomal recessive.",
"acronym": "ATS2.",
"accession": "DI-00080",
"synonyms": null,
"cross_references": "MeSH; D009394.",
"definition": "A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. ",
"keywords": "KW-0023:Alport syndrome.; KW-0209:Deafness.; "
},
{
"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": "Blepharophimosis-impaired intellectual development syndrome.",
"acronym": "BIS.",
"accession": "DI-06094",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant congenital syndrome characterized by blepharophimosis, facial dysmorphism, global development delay, delayed motor skills, impaired intellectual development with poor or absent speech, and behavioral abnormalities in some patients. Additional variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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": "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": "Cardiomyopathy, dilated, 1S.",
"acronym": "CMD1S.",
"accession": "DI-00224",
"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, with impaired proprioception and touch.",
"acronym": "DAIPT.",
"accession": "DI-04863",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A 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. DAIPT is an autosomal recessive disease characterized by selective loss of discriminative touch perception, ataxia, difficulty walking, dysmetria, and progressive skeletal contractures. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, impaired intellectual development, and seizures.",
"acronym": "AMRS.",
"accession": "DI-03977",
"synonyms": null,
"cross_references": "MeSH; D012640.",
"definition": "A disease characterized by arthrogryposis, intellectual disability, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Arthrogryposis, Perthes disease, and upward gaze palsy.",
"acronym": "APUG.",
"accession": "DI-04768",
"synonyms": null,
"cross_references": "MeSH; D015835.",
"definition": "An autosomal recessive, syndromic form of arthrogryposis, a disease characterized by persistent joints flexure or contracture. APUG patients manifest an unusual combination of arthrogryposis, upward gaze palsy, and avascular necrosis of the hip (Perthes disease). ",
"keywords": null
},
{
"identifier": "Ablepharon-macrostomia syndrome.",
"acronym": "AMS.",
"accession": "DI-04542",
"synonyms": null,
"cross_references": "MeSH; D008265.",
"definition": "A congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Alternating hemiplegia of childhood 1.",
"acronym": "AHC1.",
"accession": "DI-00084",
"synonyms": null,
"cross_references": "MeSH; D006429.",
"definition": "A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. ",
"keywords": null
},
{
"identifier": "Atrial fibrillation, familial, 15.",
"acronym": "ATFB15.",
"accession": "DI-04082",
"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": "Alternating hemiplegia of childhood 2.",
"acronym": "AHC2.",
"accession": "DI-03527",
"synonyms": null,
"cross_references": "MeSH; D006429.",
"definition": "A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. ",
"keywords": null
},
{
"identifier": "Atrial fibrillation, familial, 13.",
"acronym": "ATFB13.",
"accession": "DI-03855",
"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": "Avascular necrosis of the femoral head, primary 2.",
"acronym": "ANFH2.",
"accession": "DI-04965",
"synonyms": null,
"cross_references": "MeSH; D005271.",
"definition": "A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. ",
"keywords": null
},
{
"identifier": "Cerebellar ataxia, brain abnormalities, and cardiac conduction defects.",
"acronym": "CABAC.",
"accession": "DI-06242",
"synonyms": null,
"cross_references": "MeSH; D009461.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development and speech delay that are observed in most patients. Disease manifestations are variable and include infantile-onset hypotonia, poor motor development, poor feeding and overall growth, and ataxic gait due to cerebellar ataxia. Additional variable features are dysarthria, nystagmus, variable ocular anomalies, spasticity, hyperreflexia, and non-specific dysmorphic features. Brain imaging shows cerebellar hypoplasia, often with brainstem hypoplasia, enlarged ventricles, delayed myelination, and thin corpus callosum. A significant number of patients develop cardiac conduction defects in childhood or adolescence. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}