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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=420",
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"results": [
{
"identifier": "Ataxia-pancytopenia syndrome.",
"acronym": "ATXPC.",
"accession": "DI-04781",
"synonyms": "Myelocerebellar disorder.; ",
"cross_references": "MeSH; D010198.",
"definition": "An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. ",
"keywords": null
},
{
"identifier": "Ataxia, sensory, 1, autosomal dominant.",
"acronym": "SNAX1.",
"accession": "DI-03449",
"synonyms": "ADSA.; ",
"cross_references": "MeSH; D001259.",
"definition": "A rare disease characterized by progressive ataxia caused by degeneration of the posterior columns of the spinal cord. Affected individuals have a reduced ability to feel pain, temperature and vibration, particularly in the hands and feet. Their most prominent feature is an ataxic gait resulting from a severe loss of proprioception. Thus, patients rely on visual cues for maintaining proper body posture, such that they are unable to remain upright if their eyes are closed (Romberg sign). ",
"keywords": null
},
{
"identifier": "Ataxia telangiectasia.",
"acronym": "AT.",
"accession": "DI-00139",
"synonyms": "AT1.; Ataxia-telangiectasia.; Louis-Bar syndrome.; ",
"cross_references": "MeSH; D001260.",
"definition": "A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Ataxia-telangiectasia-like disorder 1.",
"acronym": "ATLD1.",
"accession": "DI-00140",
"synonyms": "Ataxia-telangiectasia-like disorder.; ATLD.; ",
"cross_references": "MeSH; D049914.",
"definition": "A rare disorder characterized by progressive cerebellar ataxia, dysarthria, abnormal eye movements, and absence of telangiectasia. ATLD patients show normal levels of total IgG, IgA and IgM, although there may be reduced levels of specific functional antibodies. At the cellular level, ATLD exhibits hypersensitivity to ionizing radiation and radioresistant DNA synthesis. ",
"keywords": null
},
{
"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": "Ataxia with vitamin E deficiency.",
"acronym": "AVED.",
"accession": "DI-00141",
"synonyms": "Ataxia Friedreich-like with selective vitamin E deficiency.; Familial isolated vitamin E deficiency.; ",
"cross_references": "MeSH; D014811.",
"definition": "An autosomal recessive disease characterized by undetectable or markedly reduced plasma levels of vitamin E, spinocerebellar degeneration, ataxia, areflexia and proprioception loss. ",
"keywords": null
},
{
"identifier": "Atelis syndrome 1.",
"acronym": "ATELS1.",
"accession": "DI-06582",
"synonyms": "Mosaic variegated aneuploidy syndrome 5.; MVA5.; Poor growth, microcephaly, developmental delay, and anemia.; ",
"cross_references": "MeSH; D065886.",
"definition": "A form of Atelis syndrome, an autosomal recessive neurodevelopmental disorder characterized by mild to severe developmental delay, learning difficulties, microcephaly, and growth restriction with short stature. Additional features include anemia, skin hyperpigmentation, ocular anomalies, congenital heart defects, and mild skeletal abnormalities. Death in childhood may occur. Patient cells show spontaneous chromosome breakage and chromosomal anomalies, hallmarked by segmented and dicentric chromosomes and mosaic variegated hyperploidy. ",
"keywords": null
},
{
"identifier": "Atelis syndrome 2.",
"acronym": "ATELS2.",
"accession": "DI-06583",
"synonyms": "Mosaic variegated aneuploidy syndrome 6.; MVA6.; Poor growth, microcephaly, dysmorphic facies, and cardiac defects.; ",
"cross_references": "MeSH; D065886.",
"definition": "A form of Atelis syndrome, an autosomal recessive neurodevelopmental disorder characterized by mild to severe developmental delay, learning difficulties, microcephaly, and growth restriction with short stature. Additional features include anemia, skin hyperpigmentation, ocular anomalies, congenital heart defects, and mild skeletal abnormalities. Death in childhood may occur. Patient cells show spontaneous chromosome breakage and chromosomal anomalies, hallmarked by segmented and dicentric chromosomes and mosaic variegated hyperploidy. ",
"keywords": null
},
{
"identifier": "Atelosteogenesis 1.",
"acronym": "AO1.",
"accession": "DI-00142",
"synonyms": "AOI.; Atelosteogenesis type I.; Giant cell chondrodysplasia.; Spondylohumerofemoral hypoplasia.; ",
"cross_references": "MeSH; D010009.",
"definition": "A lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes which are encapsulated in fibrous tissue. ",
"keywords": null
},
{
"identifier": "Atelosteogenesis 2.",
"acronym": "AO2.",
"accession": "DI-00143",
"synonyms": "AO-II.; Atelosteogenesis type II.; Neonatal osseous dysplasia 1.; Neonatal osseous dysplasia type I.; ",
"cross_references": "MeSH; D010009.",
"definition": "A perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth. ",
"keywords": null
},
{
"identifier": "Atelosteogenesis 3.",
"acronym": "AO3.",
"accession": "DI-00144",
"synonyms": "AOIII.; Atelosteogenesis type III.; ",
"cross_references": "MeSH; D010009.",
"definition": "A short-limb lethal skeletal dysplasia with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations. Recurrent respiratory insufficiency and/or infections usually result in early death. ",
"keywords": null
},
{
"identifier": "Athabaskan brainstem dysgenesis syndrome.",
"acronym": "ABDS.",
"accession": "DI-01193",
"synonyms": "Narvajo brainstem syndrome.; ",
"cross_references": "MeSH; D009421.",
"definition": "Characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. ",
"keywords": null
},
{
"identifier": "Atopic hypersensitivity.",
"acronym": "ATOPY.",
"accession": "DI-03286",
"synonyms": "Atopy.; ",
"cross_references": "MeSH; D006969.",
"definition": "A condition characterized by predisposition to develop hypersensitivity reactions. Atopic individuals can develop eczema, allergic rhinitis and allergic asthma. ",
"keywords": null
},
{
"identifier": "Atransferrinemia.",
"acronym": "ATRAF.",
"accession": "DI-00145",
"synonyms": null,
"cross_references": "MeSH; D008664.",
"definition": "A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia. ",
"keywords": null
},
{
"identifier": "Atrial fibrillation, familial, 10.",
"acronym": "ATFB10.",
"accession": "DI-03122",
"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": "Atrial fibrillation, familial, 11.",
"acronym": "ATFB11.",
"accession": "DI-03142",
"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": "Atrial fibrillation, familial, 12.",
"acronym": "ATFB12.",
"accession": "DI-03143",
"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": "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": "Atrial fibrillation, familial, 14.",
"acronym": "ATFB14.",
"accession": "DI-03856",
"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": "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.; "
}
]
}