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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3500&ordering=synonyms",
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"results": [
{
"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": "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": "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": "von Hippel-Lindau disease.",
"acronym": "VHLD.",
"accession": "DI-01131",
"synonyms": "VHLS.; Von Hippel-Lindau syndrome.; ",
"cross_references": "MeSH; D006623.",
"definition": "VHLD is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. VHL type 1 is without pheochromocytoma, type 2 is with pheochromocytoma. VHL type 2 is further subdivided into types 2A (pheochromocytoma, retinal angioma, and hemangioblastomas without renal cell carcinoma and pancreatic cyst) and 2B (pheochromocytoma, retinal angioma, and hemangioblastomas with renal cell carcinoma and pancreatic cyst). ",
"keywords": null
},
{
"identifier": "Vitamin D-dependent rickets 3.",
"acronym": "VDDR3.",
"accession": "DI-05946",
"synonyms": "Vitamin D-dependent rickets, type 3.; ",
"cross_references": "MeSH; D012279.",
"definition": "An autosomal dominant disorder of vitamin D metabolism resulting in early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to parent and activated forms of vitamin D. ",
"keywords": null
},
{
"identifier": "von Willebrand disease 2.",
"acronym": "VWD2.",
"accession": "DI-02904",
"synonyms": "Von Willebrand disease Normandy variant.; Von Willebrand disease type 2A.; Von Willebrand disease type 2B.; Von Willebrand disease type 2M.; Von Willebrand disease type 2 Malmo.; Von Willebrand disease type 2N.; von Willebrand disease type II.; Von Willebrand disease type I New York.; von Willebrand factor deficiency type 2.; VWD2A.; VWD2B.; VWD2M.; VWD2N.; ",
"cross_references": "MeSH; D056728.",
"definition": "A hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in altered platelet aggregation. Von Willebrand disease type 2 is characterized by qualitative deficiency and functional anomalies of von Willebrand factor. It is divided in different subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant VWF protein in types 2A, 2B and 2M are defective in their platelet- dependent function, whereas the mutant protein in type 2N is defective in its ability to bind factor VIII. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. ",
"keywords": null
},
{
"identifier": "von Willebrand disease 3.",
"acronym": "VWD3.",
"accession": "DI-02734",
"synonyms": "von Willebrand disease recessive form.; von Willebrand disease type III.; von Willebrand factor deficiency type 3.; ",
"cross_references": "MeSH; D056729.",
"definition": "A severe hemorrhagic disorder due to a total or near total absence of von Willebrand factor in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, excessive bleeding after minor trauma, and hemarthroses. ",
"keywords": null
},
{
"identifier": "von Willebrand disease 1.",
"acronym": "VWD1.",
"accession": "DI-02903",
"synonyms": "von Willebrand disease type I.; von Willebrand factor deficiency type 1.; ",
"cross_references": "MeSH; D056725.",
"definition": "A common hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor, that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. ",
"keywords": null
},
{
"identifier": "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease.",
"acronym": "PCWH.",
"accession": "DI-00909",
"synonyms": "Waardenburg-Shah syndrome neurologic variant.; ",
"cross_references": "MeSH; D014849.",
"definition": "A complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease. ",
"keywords": "KW-0209:Deafness.; KW-0367:Hirschsprung disease.; KW-0897:Waardenburg syndrome.; "
},
{
"identifier": "WHIM syndrome 2.",
"acronym": "WHIMS2.",
"accession": "DI-06160",
"synonyms": "Warts, hypogammaglobulinemia, infections, and myelokathexis 2.; ",
"cross_references": "MeSH; D000081207.",
"definition": "An autosomal recessive form of WHIM syndrome, a primary immunodeficiency disorder characterized by warts, hypogammaglobulinemia, infections, and myelokathexis. Myelokathexis is a unique form of non-cyclic severe congenital neutropenia caused by accumulation of mature and degenerating neutrophils in the bone marrow. Monocytopenia and lymphopenia, especially B lymphopenia, also commonly occur. There is significant phenotypic variation among patients, such that some individuals may have an incomplete form of the disorder in which one or more of the classic tetrad features are not present. ",
"keywords": null
},
{
"identifier": "WHIM syndrome 1.",
"acronym": "WHIMS1.",
"accession": "DI-02419",
"synonyms": "Warts, hypogammaglobulinemia, infections and myelokathexis syndrome 1.; WHIMS.; ",
"cross_references": "MeSH; D000081207.",
"definition": "An autosomal dominant immunologic disease characterized by neutropenia, hypogammaglobulinemia and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. ",
"keywords": null
},
{
"identifier": "Weaver syndrome.",
"acronym": "WVS.",
"accession": "DI-01141",
"synonyms": "Weaver-Smith syndrome.; Weaver syndrome 1.; Weaver syndrome 2.; WSS.; WVS1.; WVS2.; ",
"cross_references": "MeSH; D006130.",
"definition": "A syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand. ",
"keywords": null
},
{
"identifier": "Weill-Marchesani syndrome 4.",
"acronym": "WMS4.",
"accession": "DI-02827",
"synonyms": "Weill-Marchesani-like syndrome.; WMSL.; ",
"cross_references": "MeSH; D015785.",
"definition": "An autosomal recessive syndrome characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. Brachydactyly and decreased joint flexibility are present in some patients. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Woolly hair autosomal recessive 2.",
"acronym": "ARWH2.",
"accession": "DI-02723",
"synonyms": "WH/HT.; Woolly hair autosomal recessive 2 with or without hypotrichosis.; ",
"cross_references": "MeSH; D006201.",
"definition": "A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis. ",
"keywords": null
},
{
"identifier": "Myopathy, distal, 4.",
"acronym": "MPD4.",
"accession": "DI-03144",
"synonyms": "Williams distal myopathy.; ",
"cross_references": "MeSH; D049310.",
"definition": "A slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non- specific changes with no evidence of rods, necrosis, or inflammation. ",
"keywords": null
},
{
"identifier": "Wiskott-Aldrich syndrome 2.",
"acronym": "WAS2.",
"accession": "DI-03385",
"synonyms": "WIPF1 deficiency.; ",
"cross_references": "MeSH; D014923.",
"definition": "An immunodeficiency disorder characterized by eczema, thrombocytopenia, recurrent infections, defective T-cell proliferation, and impaired natural killer cell function. ",
"keywords": null
},
{
"identifier": "Woolly hair autosomal recessive 3.",
"acronym": "ARWH3.",
"accession": "DI-04638",
"synonyms": "Woolly hair, autosomal recessive 3, with hypotrichosis.; ",
"cross_references": "MeSH; D006201.",
"definition": "A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Xanthinuria 1.",
"acronym": "XAN1.",
"accession": "DI-01153",
"synonyms": "Xanthic urolithiasis.; Xanthine dehydrogenase deficiency.; Xanthine oxidase deficiency.; XDH deficiency.; ",
"cross_references": "MeSH; D052878.",
"definition": "A disorder characterized by excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. XAN1 is due to isolated xanthine dehydrogenase deficiency. Patients can metabolize allopurinol. ",
"keywords": null
},
{
"identifier": "Xeroderma pigmentosum complementation group B.",
"acronym": "XP-B.",
"accession": "DI-01156",
"synonyms": "Xeroderma pigmentosum group B with Cockayne syndrome.; Xeroderma pigmentosum II.; XP2.; XP-B/CS.; XP group B.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. ",
"keywords": "KW-0172:Cockayne syndrome.; KW-0857:Xeroderma pigmentosum.; "
},
{
"identifier": "Xeroderma pigmentosum complementation group C.",
"acronym": "XP-C.",
"accession": "DI-01157",
"synonyms": "Xeroderma pigmentosum III.; XP3.; XPC.; XPCC.; XP group C.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. ",
"keywords": "KW-0857:Xeroderma pigmentosum.; "
}
]
}