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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3300&ordering=-synonyms",
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"results": [
{
"identifier": "Thrombophilia due to thrombin defect.",
"acronym": "THPH1.",
"accession": "DI-02665",
"synonyms": "Thrombophilia due to factor 2 defect.; Venous thromboembolism.; Venous thrombosis.; ",
"cross_references": "MeSH; D019851.",
"definition": "A multifactorial disorder of hemostasis characterized by abnormal platelet aggregation in response to various agents and recurrent thrombi formation. ",
"keywords": "KW-0792:Thrombophilia.; "
},
{
"identifier": "Thrombophilia due to protein S deficiency, autosomal dominant.",
"acronym": "THPH5.",
"accession": "DI-00958",
"synonyms": "Thrombophilia autosomal dominant due to protein S deficiency.; Thrombophilia autosomal recessive due to protein S deficiency.; ",
"cross_references": "MeSH; D018455.",
"definition": "A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Based on the plasma levels of total and free PROS1 as well as the serine protease-activated protein C cofactor activity, three types of THPH5 have been described: type I, characterized by reduced total and free PROS1 levels together with reduced anticoagulant activity; type III, in which only free PROS1 antigen and PROS1 activity levels are reduced; and the rare type II which is characterized by normal concentrations of both total and free PROS1 antigen, but low cofactor activity. ",
"keywords": "KW-0792:Thrombophilia.; "
},
{
"identifier": "Thrombocythemia 3.",
"acronym": "THCYT3.",
"accession": "DI-03402",
"synonyms": "Thrombocytosis 3.; ",
"cross_references": "MeSH; D013920.",
"definition": "A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes. ",
"keywords": null
},
{
"identifier": "Thrombocythemia 2.",
"acronym": "THCYT2.",
"accession": "DI-03401",
"synonyms": "Thrombocytosis 2.; ",
"cross_references": "MeSH; D013920.",
"definition": "A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes. ",
"keywords": null
},
{
"identifier": "Thrombocytopenia 1.",
"acronym": "THC1.",
"accession": "DI-01098",
"synonyms": "Thrombocytopenia X-linked.; Thrombocytopenia X-linked 1.; XLT.; ",
"cross_references": "MeSH; D013921.",
"definition": "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. ",
"keywords": null
},
{
"identifier": "Thrombocytopenia with beta-thalassemia, X-linked.",
"acronym": "XLTT.",
"accession": "DI-02461",
"synonyms": "Thrombocytopenia platelet dysfunction hemolysis and imbalanced globin synthesis.; ",
"cross_references": "MeSH; D017086.",
"definition": "An unusual form of thrombocytopenia associated with beta-thalassemia. Patients have splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and unbalanced (hemo)globin chain synthesis resembling that of beta- thalassemia minor. ",
"keywords": null
},
{
"identifier": "Thrombocytopenia 13, syndromic.",
"acronym": "THC13.",
"accession": "DI-06880",
"synonyms": "Thrombocytopenia, autosomal recessive, 13.; ",
"cross_references": "MeSH; D013921.",
"definition": "An autosomal recessive form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC13 patients have enlarged, gray platelets with defective function. Some affected individuals have leukopenia or anemia and pancytopenia. Additional variable features include mitral valve malformations, pyloric stenosis, and impaired intellectual development. ",
"keywords": null
},
{
"identifier": "Thrombocytopenia 10.",
"acronym": "THC10.",
"accession": "DI-06750",
"synonyms": "Thrombocytopenia, autosomal recessive, 10.; ",
"cross_references": "MeSH; D013921.",
"definition": "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC10 is an autosomal recessive form characterized by decreased numbers of platelets apparent from birth or early childhood. ",
"keywords": null
},
{
"identifier": "Thrombocytopenia 9.",
"acronym": "THC9.",
"accession": "DI-06745",
"synonyms": "Thrombocytopenia, autosomal dominant, 9.; ",
"cross_references": "MeSH; D013921.",
"definition": "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC9 is an autosomal dominant form characterized by low platelet counts in the absence of significant bleeding tendency. Some individuals may have mild mucocutaneous bleeding, whereas others may be asymptomatic. ",
"keywords": null
},
{
"identifier": "Thrombocytopenia 7.",
"acronym": "THC7.",
"accession": "DI-05994",
"synonyms": "Thrombocytopenia, autosomal dominant, 7.; ",
"cross_references": "MeSH; D013921.",
"definition": "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC7 is an autosomal dominant form with highly variable severity, ranging from absence of bleeding symptoms to epistaxis or more severe bleeding episodes. ",
"keywords": null
},
{
"identifier": "Thrombocytopenia 6.",
"acronym": "THC6.",
"accession": "DI-04719",
"synonyms": "Thrombocytopenia, autosomal dominant, 6.; ",
"cross_references": "MeSH; D013921.",
"definition": "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC6 is an autosomal dominant form. Affected individuals may also have bone abnormalities and an increased risk for myelofibrosis. ",
"keywords": null
},
{
"identifier": "Thrombocytopenia 5.",
"acronym": "THC5.",
"accession": "DI-04335",
"synonyms": "Thrombocytopenia, autosomal dominant, 5.; Thrombocytopenia 5 with increased susceptibility to malignancy.; ",
"cross_references": "MeSH; D013921.",
"definition": "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies. ",
"keywords": null
},
{
"identifier": "Thrombocytopenia 4.",
"acronym": "THC4.",
"accession": "DI-01100",
"synonyms": "Thrombocytopenia autosomal dominant 4.; ",
"cross_references": "MeSH; D013921.",
"definition": "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. ",
"keywords": null
},
{
"identifier": "Thrombocytopenia 2.",
"acronym": "THC2.",
"accession": "DI-01099",
"synonyms": "Thrombocytopenia, autosomal dominant, 2.; Thrombocytopenia autosomal dominant 2.; ",
"cross_references": "MeSH; D013921.",
"definition": "A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. ",
"keywords": null
},
{
"identifier": "Stormorken syndrome.",
"acronym": "STRMK.",
"accession": "DI-04155",
"synonyms": "Thrombocytopathy, asplenia, and miosis.; York platelet syndrome.; YPS.; ",
"cross_references": "MeSH; D020914.",
"definition": "A rare autosomal dominant disease characterized by mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. ",
"keywords": null
},
{
"identifier": "Thyroid hormone metabolism, abnormal, 1.",
"acronym": "THMA1.",
"accession": "DI-00015",
"synonyms": "THMA.; Thyroid hormone metabolism, abnormal.; ",
"cross_references": "MeSH; D013959.",
"definition": "A disorder associated with a reduction in type II iodothyronine deiodinase activity. ",
"keywords": null
},
{
"identifier": "Hematuria, benign familial, 1.",
"acronym": "BFH1.",
"accession": "DI-01271",
"synonyms": "Thin basement membrane nephropathy.; Thin membrane nephropathy.; TMN.; ",
"cross_references": "MeSH; D006417.",
"definition": "An autosomal dominant condition characterized by non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane. ",
"keywords": null
},
{
"identifier": "Familial male precocious puberty.",
"acronym": "FMPP.",
"accession": "DI-01592",
"synonyms": "Testotoxicosis.; ",
"cross_references": "MedGen; C2674612.",
"definition": "In FMPP the receptor is constitutively activated. ",
"keywords": null
},
{
"identifier": "Trichodentoosseous syndrome.",
"acronym": "TDO.",
"accession": "DI-02387",
"synonyms": "TDO syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "An autosomal dominant disease characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology. ",
"keywords": null
},
{
"identifier": "Transcobalamin II deficiency.",
"acronym": "TCN2D.",
"accession": "DI-02378",
"synonyms": "TC II deficiency.; TCN2 deficiency.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disorder manifesting in early infancy and characterized by failure to thrive, megaloblastic anemia, pancytopenia, and agammaglobulinemia. Additional features include methylmalonic aciduria, recurrent infections, vomiting and diarrhea. TCN2D may be accompanied by neurological complications, including psychomotor and mental developmental delay, if untreated. ",
"keywords": null
}
]
}