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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=200&ordering=identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=160&ordering=identifier",
"results": [
{
"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": "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": "Alpha-methylacyl-CoA racemase deficiency.",
"acronym": "AMACRD.",
"accession": "DI-00076",
"synonyms": "AMACR deficiency.; ",
"cross_references": "MeSH; D018901.",
"definition": "A rare autosomal recessive peroxisomal disorder characterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates, and adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. ",
"keywords": null
},
{
"identifier": "Alpha-thalassemia.",
"acronym": "A-THAL.",
"accession": "DI-01181",
"synonyms": null,
"cross_references": "MeSH; D017085.",
"definition": "A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes alpha(0)- thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early neonatal death. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four alpha- globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are due to point mutations (non- deletional alpha-thalassemia). ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Alpha-thalassemia/impaired intellectual development syndrome, X-linked.",
"acronym": "ATRX.",
"accession": "DI-02428",
"synonyms": "ATR nondeletion type.; ATR-X.; ATR-X syndrome.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Alpha-thalassemia myelodysplasia syndrome.",
"acronym": "ATMDS.",
"accession": "DI-01180",
"synonyms": "Acquired alpha-thalassemia with myelodysplastic syndrome.; Hemoglobin H disease acquired.; ",
"cross_references": "MeSH; D017085.",
"definition": "A disorder characterized by hypochromic, microcytic red blood cells, hemoglobin H detected in peripheral blood, and multilineage myelodysplasia. ",
"keywords": null
},
{
"identifier": "Alport syndrome 1, X-linked.",
"acronym": "ATS1.",
"accession": "DI-00082",
"synonyms": "Nephritis-deafness syndrome, X-linked.; Nephropathy and deafness, X-linked.; ",
"cross_references": "MeSH; D009394.",
"definition": "A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. 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": "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": "Alport syndrome 3A, autosomal dominant.",
"acronym": "ATS3A.",
"accession": "DI-02831",
"synonyms": "Nephritis-deafness syndrome.; Nephropathy and deafness.; ",
"cross_references": "MeSH; D009394.",
"definition": "A form of Alport syndrome, 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": "Alport syndrome 3B, autosomal recessive.",
"acronym": "ATS3B.",
"accession": "DI-06774",
"synonyms": null,
"cross_references": "MeSH; D009394.",
"definition": "A form of Alport syndrome, 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": "Al-Raqad syndrome.",
"acronym": "ARS.",
"accession": "DI-04480",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A syndrome characterized by delayed psychomotor development, moderate to severe intellectual disability, poor or absent speech, microcephaly, congenital hypotonia, and severe growth delay. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Alstrom syndrome.",
"acronym": "ALMS.",
"accession": "DI-00083",
"synonyms": "Alstroem syndrome.; ",
"cross_references": "MeSH; D056769.",
"definition": "A rare autosomal recessive disorder characterized by progressive cone- rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and diabetes mellitus type 2. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome. ",
"keywords": "KW-0182:Cone-rod dystrophy.; KW-0209:Deafness.; KW-0219:Diabetes mellitus.; KW-0550:Obesity.; KW-1186:Ciliopathy.; "
},
{
"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": "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": "Alveolar capillary dysplasia with misalignment of pulmonary veins.",
"acronym": "ACDMPV.",
"accession": "DI-02714",
"synonyms": "ACD.; Alveolar capillary dysplasia.; Alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies.; ",
"cross_references": "MeSH; D010547.",
"definition": "A rare developmental disorder characterized by abnormal development of the capillary vascular system in the lungs. Histological features include failure of formation and ingrowth of alveolar capillaries, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. Affected infants present with respiratory distress and the disease is fatal within the newborn period. Additional features include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right- left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a rare cause of persistent pulmonary hypertension of the newborn, an abnormal physiologic state caused by failure of transition of the pulmonary circulation from the high pulmonary vascular resistance of the fetus to the low pulmonary vascular resistance of the newborn. ",
"keywords": null
},
{
"identifier": "Alzahrani-Kuwahara syndrome.",
"acronym": "ALKUS.",
"accession": "DI-06078",
"synonyms": "Neurodevelopmental disorder with dysmorphic facies and cataracts.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by severe global developmental delay, impaired intellectual function, poor or absent speech, microcephaly, and facial dysmorphism. Additional variable features include early-onset cataracts, hypotonia, lower limb spasticity, and congenital heart malformations. ",
"keywords": "KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Alzheimer disease.",
"acronym": "AD.",
"accession": "DI-03832",
"synonyms": "Presenile and senile dementia.; ",
"cross_references": "MeSH; D000544.",
"definition": "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": "Alzheimer disease 1.",
"acronym": "AD1.",
"accession": "DI-00085",
"synonyms": "Autosomal dominant Alzheimer disease.; Early-onset Alzheimer disease with cerebral amyloid angiopathy.; ",
"cross_references": "MeSH; D000544.",
"definition": "A form of Alzheimer disease, 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. It can be associated with cerebral amyloid angiopathy. Alzheimer disease can be associated with cerebral amyloid angiopathy. ",
"keywords": "KW-0026:Alzheimer disease.; KW-0523:Neurodegeneration.; KW-1008:Amyloidosis.; "
},
{
"identifier": "Alzheimer disease 18.",
"acronym": "AD18.",
"accession": "DI-04003",
"synonyms": "Alzheimer disease 18 late-onset.; ",
"cross_references": "MeSH; D000544.",
"definition": "A 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": "Alzheimer disease 19.",
"acronym": "AD19.",
"accession": "DI-04047",
"synonyms": "Late-onset Alzheimer disease.; ",
"cross_references": "MeSH; D000544.",
"definition": "A 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.; "
}
]
}