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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=380&ordering=-synonyms",
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"results": [
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 14.",
"acronym": "ARVD14.",
"accession": "DI-05863",
"synonyms": null,
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Alopecia-intellectual disability syndrome 4.",
"acronym": "APMR4.",
"accession": "DI-05812",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by alopecia universalis, scaly skin, mild to severe intellectual disability, delayed or absent speech, and motor delay. ",
"keywords": "KW-0991:Intellectual disability.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Alpha-1-antitrypsin deficiency.",
"acronym": "A1ATD.",
"accession": "DI-02928",
"synonyms": null,
"cross_references": "MeSH; D019896.",
"definition": "A disorder whose most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age. ",
"keywords": null
},
{
"identifier": "Autism, X-linked 3.",
"acronym": "AUTSX3.",
"accession": "DI-02433",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Acromicric dysplasia.",
"acronym": "ACMICD.",
"accession": "DI-03225",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well- defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Basal cell carcinoma 7.",
"acronym": "BCC7.",
"accession": "DI-03503",
"synonyms": null,
"cross_references": "MeSH; D002280.",
"definition": "A common malignant skin neoplasm that typically appears on hair- bearing skin, most commonly on sun-exposed areas. It is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. ",
"keywords": null
},
{
"identifier": "Arterial calcification of infancy, generalized, 2.",
"acronym": "GACI2.",
"accession": "DI-03382",
"synonyms": null,
"cross_references": "MeSH; D061205.",
"definition": "A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. ",
"keywords": null
},
{
"identifier": "Autoinflammation with pulmonary and cutaneous vasculitis.",
"acronym": "AIPCV.",
"accession": "DI-06633",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant disorder characterized by cutaneous vasculitis and chronic pulmonary inflammation that evolves to fibrosis. AIPCV manifests soon after birth with petechial skin lesions, followed by progressive pulmonary involvement causing restrictive lung disease and respiratory insufficiency. ",
"keywords": null
},
{
"identifier": "Alpha-fetoprotein deficiency.",
"acronym": "AFPD.",
"accession": "DI-04204",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "A benign condition characterized by undetectable AFP levels in the amniotic fluid. Affected individuals are asymptomatic and present normal development. ",
"keywords": null
},
{
"identifier": "Atrial fibrillation, familial, 18.",
"acronym": "ATFB18.",
"accession": "DI-04898",
"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": "Alpha-fetoprotein, hereditary persistence.",
"acronym": "HPAFP.",
"accession": "DI-04205",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "A benign autosomal dominant condition characterized by continued expression of alpha-fetoprotein in adult life. ",
"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": "Arthrogryposis multiplex congenita 5.",
"acronym": "AMC5.",
"accession": "DI-05874",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC5 is an autosomal recessive form characterized by severe congenital contractures, developmental delay, strabismus and tremor. ",
"keywords": null
},
{
"identifier": "Arthrogryposis multiplex congenita 6.",
"acronym": "AMC6.",
"accession": "DI-06114",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC6 is an autosomal recessive lethal form. Death usually occurs in utero or in infancy. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development.",
"acronym": "ACCIID.",
"accession": "DI-05453",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant disease characterized by moderate to severe intellectual disability, craniosynostosis, cleft palate, micrognathia, arthrogryposis, and short stature. Some patients may present bone abnormalities and generalized seizures. ",
"keywords": "KW-0242:Dwarfism.; KW-0989:Craniosynostosis.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Arthrogryposis, distal, 11.",
"acronym": "DA11.",
"accession": "DI-06491",
"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. DA11 is an autosomal dominant form characterized mainly by camptodactyly. Other features include absent flexion creases and limited forearm supination. ",
"keywords": null
},
{
"identifier": "Abdominal obesity-metabolic syndrome 4.",
"acronym": "AOMS4.",
"accession": "DI-05676",
"synonyms": null,
"cross_references": "MeSH; D024821.",
"definition": "A form of abdominal obesity-metabolic syndrome, a disorder characterized by abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose levels. AOMS4 is an autosomal dominant disease. Patients manifest obesity, hypertension, early-onset coronary artery disease and type 2 diabetes. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-0550:Obesity.; "
},
{
"identifier": "Atrial fibrillation, familial, 17.",
"acronym": "ATFB17.",
"accession": "DI-04164",
"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": "Arthrogryposis, distal, 1B.",
"acronym": "DA1B.",
"accession": "DI-03302",
"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 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. ",
"keywords": null
},
{
"identifier": "Cataract 12, multiple types.",
"acronym": "CTRCT12.",
"accession": "DI-01215",
"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. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset. ",
"keywords": "KW-0898:Cataract.; "
}
]
}