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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=460&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=420&ordering=synonyms",
"results": [
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 1.",
"acronym": "ARVD1.",
"accession": "DI-01549",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 1.; ARVC1.; Cardiomyopathy right ventricular dilated.; UHL anomaly.; ",
"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": "Arrhythmogenic right ventricular dysplasia, familial, 5.",
"acronym": "ARVD5.",
"accession": "DI-01551",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 5.; ARVC5.; ",
"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": "Myopathy, myofibrillar, 1.",
"acronym": "MFM1.",
"accession": "DI-01481",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 7.; ARVC7.; ARVD7.; Autosomal dominant inclusion body myopathy 1.; CDCD3.; CMD1F and LGMD1D.; Desminopathy primary.; Desmin-related myopathy.; Desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy.; Dilated cardiomyopathy 1F and limb-girdle muscular dystrophy type 1D.; Dilated cardiomyopathy with conduction defect and muscular dystrophy.; DRM.; Familial arrhythmogenic right ventricular dysplasia 7.; LGMD2R.; Limb-girdle muscular dystrophy 2R.; MFM desmin-related.; Muscular dystrophy, limb-girdle, type 2R.; Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy.; Myopathy myofibrillar desmin-related.; ",
"cross_references": "MeSH; D020914.",
"definition": "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM1 is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and accumulation of desmin- reactive deposits in cardiac and skeletal muscle cells. ",
"keywords": "KW-0911:Desmin-related myopathy.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 8.",
"acronym": "ARVD8.",
"accession": "DI-01552",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 8.; ARVC8.; ",
"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": "Arrhythmogenic right ventricular dysplasia, familial, 9.",
"acronym": "ARVD9.",
"accession": "DI-01553",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 9.; ARVC9.; ",
"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": "Arrhythmogenic right ventricular dysplasia, familial, 15.",
"acronym": "ARVD15.",
"accession": "DI-06708",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy, familial, 15.; ",
"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. ARVD15 inheritance is autosomal dominant. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia 11, familial, and mild palmoplantar keratoderma and woolly hair.",
"acronym": "ARVD11PK.",
"accession": "DI-04742",
"synonyms": "Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair.; ARVD and mild palmoplantar keratoderma with or without woolly hair.; ",
"cross_references": "MeSH; D019571.",
"definition": "An autosomal recessive disease characterized by arrhythmogenic cardiomyopathy in association with palmoplantar keratoderma and woolly hair. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Spastic ataxia Charlevoix-Saguenay type.",
"acronym": "SACS.",
"accession": "DI-01259",
"synonyms": "ARSACS.; Autosomal recessive spastic ataxia of Charlevoix-Saguenay.; Spastic ataxia 6, autosomal recessive.; SPAX6.; ",
"cross_references": "MeSH; D002524.",
"definition": "A neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features include dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Metachromatic leukodystrophy.",
"acronym": "MLD.",
"accession": "DI-00652",
"synonyms": "ARSA deficiency.; Arylsulfatase A deficiency.; Cerebral sclerosis, diffuse, metachromatic form.; Cerebroside sulfatase deficiency.; Metachromatic leukodystrophy, adult.; Metachromatic leukodystrophy, juvenile.; Metachromatic leukodystrophy, late infantile.; Pseudoarylsulfatase A deficiency.; Sulfatide lipidosis.; ",
"cross_references": "MeSH; D007966.",
"definition": "An autosomal recessive disease caused by abnormal intralysosomal accumulation of cerebroside-3-sulfate in central and peripheral nervous systems, as well as other organs. MLD is clinically characterized by leukodystrophy, progressive demyelination and a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Decreased arylsulfatase A activity is detected in urine, leukocytes, and fibroblasts of affected individuals. Several forms of the disease can be distinguished according to the age at onset and disease severity: late infantile, juvenile and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency. Individuals with pseudoarylsulfatase A deficiency have low arylsulfatase A activity but lack neurological manifestations and are apparently healthy. ",
"keywords": "KW-0478:Metachromatic leukodystrophy.; "
},
{
"identifier": "Mucopolysaccharidosis 6.",
"acronym": "MPS6.",
"accession": "DI-00780",
"synonyms": "ARSB deficiency.; Arylsulfatase B deficiency.; Maroteaux-Lamy syndrome.; MPS VI.; Mucopolysaccharidosis type VI.; N-acetylgalactosamine-4-sulfatase deficiency.; ",
"cross_references": "MeSH; D009087.",
"definition": "A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS6 is an autosomal recessive form characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities. ",
"keywords": "KW-0510:Mucopolysaccharidosis.; "
},
{
"identifier": "Mucopolysaccharidosis 10.",
"acronym": "MPS10.",
"accession": "DI-06314",
"synonyms": "ARSK deficiency.; Arylsulfatase K deficiency.; Mucopolysaccharidosis, type X.; ",
"cross_references": "MeSH; D009083.",
"definition": "A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS10 is an autosomal recessive childhood-onset disorder. Clinical features include disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities. ",
"keywords": "KW-0510:Mucopolysaccharidosis.; "
},
{
"identifier": "Grange syndrome.",
"acronym": "GRNG.",
"accession": "DI-04954",
"synonyms": "Arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly.; Grange occlusive arterial syndrome.; ",
"cross_references": "MeSH; D001157.",
"definition": "An autosomal recessive syndrome of stenosis or occlusion of multiple arteries, including renal, abdominal, cerebral and probably coronary arteries, congenital heart defects, brachydactyly, syndactyly, bone fragility, and learning disabilities. ",
"keywords": null
},
{
"identifier": "Arterial tortuosity syndrome.",
"acronym": "ATORS.",
"accession": "DI-01190",
"synonyms": "Arterial tortuosity.; ",
"cross_references": "MeSH; D014652.",
"definition": "An autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries. ",
"keywords": null
},
{
"identifier": "Psoriatic arthritis.",
"acronym": "PSORAS.",
"accession": "DI-02697",
"synonyms": "Arthritic psoriasis.; Psoriasis arthropathica.; Psoriatic arthropathy.; ",
"cross_references": "MeSH; D015535.",
"definition": "An inflammatory, seronegative arthritis associated with psoriasis. It is a heterogeneous disorder ranging from a mild, non-destructive disease to a severe, progressive, erosive arthropathy. Five types of psoriatic arthritis have been defined: asymmetrical oligoarthritis characterized by primary involvement of the small joints of the fingers or toes; asymmetrical arthritis which involves the joints of the extremities; symmetrical polyarthritis characterized by a rheumatoid like pattern that can involve hands, wrists, ankles, and feet; arthritis mutilans, which is a rare but deforming and destructive condition; arthritis of the sacroiliac joints and spine (psoriatic spondylitis). ",
"keywords": null
},
{
"identifier": "Ehlers-Danlos syndrome, arthrochalasia type, 1.",
"acronym": "EDSARTH1.",
"accession": "DI-00442",
"synonyms": "Arthrochalasis multiplex congenita.; EDS7A.; EDS VIIA.; EDS VII mutant procollagen type.; Ehlers-Danlos syndrome 7A.; Ehlers-Danlos syndrome arthrochalasic type.; Ehlers-Danlos syndrome type VIIA, autosomal dominant.; ",
"cross_references": "MeSH; D004535.",
"definition": "A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH1 is an autosomal dominant form characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement. ",
"keywords": "KW-0248:Ehlers-Danlos syndrome.; "
},
{
"identifier": "Arthrogryposis, distal, 12.",
"acronym": "DA12.",
"accession": "DI-06779",
"synonyms": "Arthrogryposis, distal, type 12.; ",
"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. DA12 is an autosomal recessive form characterized by congenital contractures, primarily affecting the small joints of the fingers and toes. Additional features include knee, Achilles tendon, and toe contractures, spinal stiffness, scoliosis, and orthodontic abnormalities. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 1C.",
"acronym": "DA1C.",
"accession": "DI-05980",
"synonyms": "Arthrogryposis, distal, type 1C.; ",
"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. DA1C patients show multiple congenital contractures, scoliosis, short stature, and segmental amyoplasia. DA1C inheritance can be autosomal recessive or autosomal dominant. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 2B2.",
"acronym": "DA2B2.",
"accession": "DI-05569",
"synonyms": "Arthrogryposis, distal, type 2B2.; ",
"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 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B2 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 2B4.",
"acronym": "DA2B4.",
"accession": "DI-05559",
"synonyms": "Arthrogryposis, distal, type 2B4.; ",
"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 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. ",
"keywords": null
},
{
"identifier": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A.",
"acronym": "CPSFS1A.",
"accession": "DI-05625",
"synonyms": "Arthrogryposis, distal, type 8.; DA8.; Multiple pterygium syndrome, autosomal dominant.; Pterygium syndrome, multiple, autosomal dominant.; ",
"cross_references": "MeSH; D001176.",
"definition": "An autosomal dominant disease characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported. ",
"keywords": null
}
]
}