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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=420&ordering=-synonyms",
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"results": [
{
"identifier": "Atrial fibrillation, familial, 4.",
"acronym": "ATFB4.",
"accession": "DI-00147",
"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": "Asthma-related traits 1.",
"acronym": "ASRT1.",
"accession": "DI-02869",
"synonyms": null,
"cross_references": "MeSH; D001249.",
"definition": "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ",
"keywords": "KW-1058:Asthma.; "
},
{
"identifier": "Asthma-related traits 2.",
"acronym": "ASRT2.",
"accession": "DI-02880",
"synonyms": null,
"cross_references": "MeSH; D001249.",
"definition": "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ",
"keywords": "KW-1058:Asthma.; "
},
{
"identifier": "Asthma-related traits 5.",
"acronym": "ASRT5.",
"accession": "DI-02870",
"synonyms": null,
"cross_references": "MeSH; D001249.",
"definition": "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ",
"keywords": "KW-1058:Asthma.; "
},
{
"identifier": "Asthma-related traits 7.",
"acronym": "ASRT7.",
"accession": "DI-02871",
"synonyms": null,
"cross_references": "MeSH; D001249.",
"definition": "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ",
"keywords": "KW-1058:Asthma.; "
},
{
"identifier": "Ataxia and polyneuropathy, adult-onset.",
"acronym": "APAO.",
"accession": "DI-04887",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A mitochondrial disease characterized by ataxia, axonal sensorimotor polyneuropathy, abnormal eye movements, and dysarthria. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Adams-Oliver syndrome 2.",
"acronym": "AOS2.",
"accession": "DI-03223",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "A disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 12.",
"acronym": "BBS12.",
"accession": "DI-01269",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus.",
"acronym": "ACPHD.",
"accession": "DI-04316",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A disease characterized by juvenile-onset diabetes and neurodegeneration, resulting in ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy. ",
"keywords": "KW-0209:Deafness.; KW-0219:Diabetes mellitus.; KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Ataxia, intention tremor, and hypotonia syndrome, childhood-onset.",
"acronym": "ATITHS.",
"accession": "DI-06132",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, mildly impaired intellectual development with speech delay or learning disabilities, delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Brain imaging shows cerebellar atrophy in some patients. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Adams-Oliver syndrome 3.",
"acronym": "AOS3.",
"accession": "DI-03522",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An autosomal dominant form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. AOS3 patients manifest characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects. ",
"keywords": null
},
{
"identifier": "Ataxia-oculomotor apraxia 3.",
"acronym": "AOA3.",
"accession": "DI-03724",
"synonyms": null,
"cross_references": "MeSH; D002524.",
"definition": "An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Ataxia-oculomotor apraxia 4.",
"acronym": "AOA4.",
"accession": "DI-04356",
"synonyms": null,
"cross_references": "MeSH; D002524.",
"definition": "An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Autoinflammatory-pancytopenia syndrome.",
"acronym": "AIPCS.",
"accession": "DI-06407",
"synonyms": null,
"cross_references": "MeSH; D010198.",
"definition": "An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. ",
"keywords": null
},
{
"identifier": "Adams-Oliver syndrome 4.",
"acronym": "AOS4.",
"accession": "DI-03817",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 28.",
"acronym": "CMH28.",
"accession": "DI-06150",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH28 is an autosomal dominant form with incomplete penetrance. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Ataxia-telangiectasia-like disorder 2.",
"acronym": "ATLD2.",
"accession": "DI-04180",
"synonyms": null,
"cross_references": "MeSH; D049914.",
"definition": "A neurodegenerative disorder due to defects in DNA excision repair. ATLD2 is characterized by developmental delay, ataxia, sensorineural hearing loss, short stature, cutaneous and ocular telangiectasia, and photosensitivity. ",
"keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Bleeding disorder, platelet-type, 19.",
"acronym": "BDPLT19.",
"accession": "DI-04294",
"synonyms": null,
"cross_references": "MeSH; D006470.",
"definition": "A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. ",
"keywords": null
},
{
"identifier": "Alzheimer disease 9.",
"acronym": "AD9.",
"accession": "DI-04711",
"synonyms": null,
"cross_references": "MeSH; D000544.",
"definition": "A familial, late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid- beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. ",
"keywords": "KW-0026:Alzheimer disease.; KW-0523:Neurodegeneration.; KW-1008:Amyloidosis.; "
},
{
"identifier": "Corticosteroid-binding globulin deficiency.",
"acronym": "CBG deficiency.",
"accession": "DI-01433",
"synonyms": null,
"cross_references": "MedGen; C1969107.",
"definition": "Extremely rare hereditary disorder characterized by reduced corticosteroid-binding capacity with normal or low plasma corticosteroid-binding globulin concentration, and normal or low basal cortisol levels associated with hypo/hypertension and muscle fatigue. ",
"keywords": null
}
]
}