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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=320&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=280&ordering=synonyms",
"results": [
{
"identifier": "Amyotrophic lateral sclerosis 2.",
"acronym": "ALS2.",
"accession": "DI-00109",
"synonyms": "ALSJ.; Amyotrophic lateral sclerosis juvenile.; Amyotrophic lateral sclerosis juvenile 2.; ",
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Leukoencephalopathy, hereditary diffuse, with spheroids 1.",
"acronym": "HDLS1.",
"accession": "DI-03392",
"synonyms": "ALSP.; Autosomal dominant leukoencephalopathy with neuroaxonal spheroids.; Familial dementia Neumann type.; Familial progressive subcortical gliosis.; GPSC.; HDLS.; Leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia.; Leukoencephalopathy, diffuse hereditary, with spheroids.; Subcortical gliosis of Neumann.; ",
"cross_references": "MeSH; D056784.",
"definition": "An autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1.",
"acronym": "ALS-PDC1.",
"accession": "DI-02695",
"synonyms": "ALS/PDC of Guam.; Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam.; Guam disease.; ",
"cross_references": "MeSH; D020734.",
"definition": "A neurodegenerative disorder characterized by chronic, progressive and uniformly fatal amyotrophic lateral sclerosis and parkinsonism- dementia. Both diseases are known to occur in the same kindred, the same sibship and even the same individual. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; KW-0908:Parkinsonism.; "
},
{
"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": "Identifier Once; starts an entry",
"acronym": "Acronym Once",
"accession": "Accession (DI-xxxxx) Once",
"synonyms": "Alternative name(s) Optional; once or more; ",
"cross_references": "Cross-reference(s) Once or more",
"definition": "Definition Once or more ",
"keywords": "Associated keyword (accession) Optional; Once or more; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 61.",
"acronym": "MRT61.",
"accession": "DI-05133",
"synonyms": "Alwadei syndrome.; ",
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT61 patients manifest delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. Refractory seizures and brain abnormalities are present in severely affected patients. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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 2.",
"acronym": "AD2.",
"accession": "DI-02694",
"synonyms": "Alzheimer disease associated with APOE4.; 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.; "
},
{
"identifier": "Alzheimer disease 4.",
"acronym": "AD4.",
"accession": "DI-00087",
"synonyms": "Alzheimer disease, familial, 4.; ",
"cross_references": "MeSH; D000544.",
"definition": "A familial early-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": "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": "Arthrogryposis, distal, 1A.",
"acronym": "DA1A.",
"accession": "DI-01491",
"synonyms": "AMC.; AMCD1.; Arthrogryposis multiplex congenita.; Arthrogryposis multiplex congenita distal type 1.; ",
"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": "Immunodeficiency 33.",
"acronym": "IMD33.",
"accession": "DI-02445",
"synonyms": "AMCBX1.; Familial, X-linked, atypical mycobacteriosis 1.; IPD2.; Recurrent isolated invasive pneumococcal disease 2.; X-linked disseminated atypical mycobacterial infection type 1.; X-linked immunodeficiency 33, mycobacteriosis.; X-linked susceptibility to mycobacterial disease type 1.; ",
"cross_references": "MeSH; D007153.",
"definition": "An X-linked recessive disorder characterized by variably impaired immunologic function and early-onset recurrent infections, usually due to pneumococcus, H. influenzae, and atypical mycobacteria. Features of hypohidrotic ectodermal dysplasia are generally not present, although some patients may have conical teeth or hypodontia. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 34.",
"acronym": "IMD34.",
"accession": "DI-03091",
"synonyms": "AMCBX2.; Familial, X-linked, atypical mycobacteriosis 2.; Familial disseminated atypical mycobacterial infection X-linked 2.; Mendelian susceptibility to mycobacterial disease X-linked 2.; X-linked immunodeficiency 34, mycobacteriosis.; ",
"cross_references": "MeSH; D007153.",
"definition": "A form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette- Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 2B1.",
"acronym": "DA2B1.",
"accession": "DI-01493",
"synonyms": "AMCD2B.; Arthrogryposis multiplex congenita distal type 2B.; Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities.; Freeman-Sheldon syndrome variant.; FSSV.; Sheldon-Hall syndrome.; SHS.; ",
"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. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Spinal muscular atrophy X-linked 2.",
"acronym": "SMAX2.",
"accession": "DI-01059",
"synonyms": "AMC distal X-linked.; AMCX1.; Arthrogryposis multiplex congenita distal X-linked.; Arthrogryposis X-linked type I.; Spinal muscular atrophy infantile X-linked.; Spinal muscular atrophy X-linked lethal infantile.; XLSMA.; ",
"cross_references": "MeSH; D014897.",
"definition": "A lethal infantile form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Clinical features include hypotonia, areflexia, and multiple congenital contractures. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Arthrogryposis multiplex congenita 3, myogenic type.",
"acronym": "AMC3.",
"accession": "DI-05605",
"synonyms": "AMCM.; Arthrogryposis multiplex congenita, myogenic type.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMC3 is an autosomal recessive form characterized by decreased fetal movements, muscular hypotonia, delayed motor development, loss of ambulation, variable skeletal defects, and persistent contractures of interphalangeal joints. ",
"keywords": null
},
{
"identifier": "Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum.",
"acronym": "AMC4.",
"accession": "DI-05753",
"synonyms": "AMCNACC.; Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum.; Zain syndrome.; ",
"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. AMC4 is an autosomal recessive, severe form with onset in utero. Patients manifest little or no fetal movements, significant contractures affecting the upper and lower limbs, dysmorphic facial features, optic atrophy, limb fractures, profound global developmental delay, seizures, and peripheral neuropathy. Many patients die in early childhood. ",
"keywords": null
},
{
"identifier": "Arthrogryposis multiplex congenita 2, neurogenic type.",
"acronym": "AMC2.",
"accession": "DI-05199",
"synonyms": "AMC, neurogenic type.; AMCN.; Arthrogryposis multiplex congenita, neurogenic type.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMC2 is due to a neurogenic defect and is characterized by congenital immobility of the limbs with fixation of multiple joints, and muscle wasting. AMC2 transmission pattern is consistent with autosomal recessive inheritance in several families. Penetrance may be incomplete in females. ",
"keywords": null
},
{
"identifier": "Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect.",
"acronym": "AMC1.",
"accession": "DI-04998",
"synonyms": "AMCNMY.; Arthrogryposis multiplex congenita, neurogenic, with myelin defect.; ",
"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. AMC1 is an autosomal recessive severe form with onset in utero. Most affected individuals die in utero. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect. ",
"keywords": null
},
{
"identifier": "Apparent mineralocorticoid excess.",
"acronym": "AME.",
"accession": "DI-01187",
"synonyms": "AME1.; Cortisol 11-beta-ketoreductase deficiency.; ",
"cross_references": "MeSH; D043204.",
"definition": "An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis. ",
"keywords": null
}
]
}