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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3260&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3220&ordering=-synonyms",
"results": [
{
"identifier": "Ventricular tachycardia, catecholaminergic polymorphic, 2.",
"acronym": "CPVT2.",
"accession": "DI-00250",
"synonyms": "Ventricular tachycardia, stress-induced polymorphic 2.; VTSIP2.; ",
"cross_references": "MeSH; D017180.",
"definition": "An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT2 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Wolff-Parkinson-White syndrome.",
"acronym": "WPW.",
"accession": "DI-01150",
"synonyms": "Ventricular familial preexcitation syndrome.; WPW syndrome preexcitation syndrome.; ",
"cross_references": "MeSH; D014927.",
"definition": "A supernormal conduction disorder characterized by the presence of one or several accessory atrioventricular connections, which can lead to episodes of sporadic tachycardia. ",
"keywords": null
},
{
"identifier": "Bothnia retinal dystrophy.",
"acronym": "BRD.",
"accession": "DI-00193",
"synonyms": "Vasterbotten dystrophy.; ",
"cross_references": "MeSH; D058499.",
"definition": "A type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration. ",
"keywords": null
},
{
"identifier": "Variegate porphyria, childhood-onset.",
"acronym": "VPCO.",
"accession": "DI-06749",
"synonyms": "Variegate porphyria, homozygous variant.; ",
"cross_references": "MeSH; D046350.",
"definition": "An autosomal recessive form of variegate porphyria, a disorder of heme biosynthesis that results from diminished activity of protoporphyrinogen oxidase. VPCO is characterized by severe protoporphyrinogen oxidase deficiency, onset of photosensitization by porphyrins in early childhood, skin scarring and hyperpigmentation, and skeletal abnormalities of the hand. Additional variable features are short stature, impaired intellectual development, and seizures. VPCO patients rarely experience acute neuropsychiatric or abdominal attacks. ",
"keywords": null
},
{
"identifier": "Mucolipidosis type III complementation group C.",
"acronym": "MLIIIC.",
"accession": "DI-01997",
"synonyms": "Variant pseudo-Hurler polydystrophy.; ",
"cross_references": "MedGen; C1854896.",
"definition": "Autosomal recessive disease of lysosomal hydrolase trafficking. Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (GlcNAc-phosphotransferase) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. Typical clinical findings include stiffness of the hands and shoulders, claw-hand deformity, scoliosis, short stature, coarse facies, and mild intellectual disability. Radiographically, severe dysostosis multiplex of the hip is characteristic and frequently disabling. The clinical diagnosis can be confirmed by finding elevated serum lysosomal enzyme levels and/or decreased lysosomal enzyme levels in cultured fibroblasts. ",
"keywords": "KW-0942:Mucolipidosis.; "
},
{
"identifier": "VEXAS syndrome.",
"acronym": "VEXAS.",
"accession": "DI-05955",
"synonyms": "Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic.; VEXAS syndrome, somatic.; ",
"cross_references": "MeSH; D007249.",
"definition": "A sporadic, often fatal, treatment-refractory inflammatory syndrome that develops in late adulthood. Clinical features include fevers, cytopenias, characteristic vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow, neutrophilic cutaneous and pulmonary inflammation, chondritis, and vasculitis. The disease affects only males and is associated with de novo somatic mutations. ",
"keywords": null
},
{
"identifier": "Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant.",
"acronym": "MRUPAV.",
"accession": "DI-06732",
"synonyms": "Vacuolar Neuromyopathy.; ",
"cross_references": "MeSH; D009136.",
"definition": "An autosomal dominant, slowly progressive myopathy characterized by skeletal muscle weakness variably affecting the distal or proximal lower limbs. Some patients may also have upper limb involvement or neck muscle weakness. Skeletal muscle biopsy shows distinctive myopathic features including rimmed ubiquitin-positive autophagic vacuolation and abnormal subsarcolemmal protein aggregation. ",
"keywords": null
},
{
"identifier": "VACTERL association X-linked with or without hydrocephalus.",
"acronym": "VACTERLX.",
"accession": "DI-02462",
"synonyms": "VACTERL syndrome.; Vertebral anal tracheoesophageal esophageal radial anomalies.; X-linked VACTERL-H.; ",
"cross_references": "MeSH; D000015.",
"definition": "A syndrome characterized by a non-random association of congenital defects. Affected individuals manifest vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula (TE), renal anomalies (R) such as urethral atresia with hydronephrosis, and limb anomalies (L) such as hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb. Some patients may have hydrocephalus. Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement. ",
"keywords": null
},
{
"identifier": "Usher syndrome 4.",
"acronym": "USH4.",
"accession": "DI-05348",
"synonyms": "Usher syndrome, type IV.; ",
"cross_references": "MeSH; D052245.",
"definition": "A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish different types of Usher syndrome. USH4 is characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement. USH4 inheritance is autosomal recessive. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 2C.",
"acronym": "USH2C.",
"accession": "DI-01119",
"synonyms": "Usher's syndrome type 2C.; Usher syndrome type IIC.; Usher syndrome type IIC GPR98/PDZD7 digenic.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 2A.",
"acronym": "USH2A.",
"accession": "DI-01118",
"synonyms": "Usher's syndrome type 2A.; Usher syndrome type IIa.; Usher syndrome type IIA.; USHIIa.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 1J.",
"acronym": "USH1J.",
"accession": "DI-03552",
"synonyms": "Usher's syndrome type 1J.; Usher syndrome type IJ.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 1G.",
"acronym": "USH1G.",
"accession": "DI-01117",
"synonyms": "Usher's syndrome type 1G.; Usher syndrome type IG.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 1F.",
"acronym": "USH1F.",
"accession": "DI-01116",
"synonyms": "Usher's syndrome type 1F.; Usher syndrome type IF.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 1D.",
"acronym": "USH1D.",
"accession": "DI-01114",
"synonyms": "Usher's syndrome type 1D.; Usher syndrome type ID.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 1B.",
"acronym": "USH1B.",
"accession": "DI-01112",
"synonyms": "Usher's syndrome type 1B.; Usher syndrome type Ib.; Usher syndrome type IB.; USHIb.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 3A.",
"acronym": "USH3A.",
"accession": "DI-01120",
"synonyms": "USH3.; Usher's syndrome type 3.; Usher syndrome III.; Usher syndrome type 3.; Usher syndrome type III.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Usher syndrome 1D/F.",
"acronym": "USH1DF.",
"accession": "DI-01115",
"synonyms": "USH1D/F.; Usher's syndrome type 1H.; Usher syndrome 1H.; Usher syndrome type IH.; ",
"cross_references": "MeSH; D052245.",
"definition": "A digenic recessive form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Bladder cancer.",
"acronym": "BLC.",
"accession": "DI-02612",
"synonyms": "Urinary bladder cancer.; Urothelial carcinoma of the bladder.; ",
"cross_references": "MeSH; D001749.",
"definition": "A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. ",
"keywords": null
},
{
"identifier": "Uric acid nephrolithiasis.",
"acronym": "UAN.",
"accession": "DI-02839",
"synonyms": "Uric acid urolithiasis.; ",
"cross_references": "MeSH; D053040.",
"definition": "A form of nephrolithiasis, a common multifactorial disease characterized by stones formation in the kidney and urinary tract. Nephrolithiasis is due to supersaturation of the urine by stone- forming constituents, including calcium, oxalate and uric acid. Crystals or foreign bodies can act as nidi, upon which ions from the supersaturated urine form microscopic crystalline structures. Uric acid nephrolithiasis occurs when the urine becomes overly concentrated with uric acid and accounts for 20% of all stones. ",
"keywords": null
}
]
}