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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=300&ordering=-identifier",
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"results": [
{
"identifier": "Toe syndactyly, telecanthus, and anogenital and renal malformations.",
"acronym": "STAR.",
"accession": "DI-02373",
"synonyms": "STAR syndrome.; Syndactyly with renal and anogenital malformations.; ",
"cross_references": "MeSH; D014564.",
"definition": "A syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus. ",
"keywords": null
},
{
"identifier": "Tn polyagglutination syndrome.",
"acronym": "TNPS.",
"accession": "DI-02372",
"synonyms": "Galactosyltransferase deficiency.; Tn syndrome.; ",
"cross_references": "MeSH; D006402.",
"definition": "A clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia. However, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. ",
"keywords": null
},
{
"identifier": "Timothy syndrome.",
"acronym": "TS.",
"accession": "DI-02370",
"synonyms": "Long QT syndrome with syndactyly.; ",
"cross_references": "MeSH; D013576.",
"definition": "Disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism. ",
"keywords": "KW-0454:Long QT syndrome.; KW-1269:Autism.; "
},
{
"identifier": "Tietz albinism-deafness syndrome.",
"acronym": "TADS.",
"accession": "DI-02369",
"synonyms": "Albinism-deafness of Tietz.; Hypopigmentation/deafness of Tietz.; Tietz syndrome.; ",
"cross_references": "MeSH; D016115.",
"definition": "An autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness. ",
"keywords": "KW-0015:Albinism.; KW-0209:Deafness.; "
},
{
"identifier": "Thyrotoxic periodic paralysis 2.",
"acronym": "TTPP2.",
"accession": "DI-02615",
"synonyms": "Thyrotoxic hypokalemic periodic paralysis.; TPP.; ",
"cross_references": "MeSH; D010245.",
"definition": "A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease. ",
"keywords": null
},
{
"identifier": "Thyrotoxic periodic paralysis 1.",
"acronym": "TTPP1.",
"accession": "DI-02368",
"synonyms": "Thyrotoxic hypokalemic periodic paralysis.; TPP.; ",
"cross_references": "MeSH; D010245.",
"definition": "A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease. ",
"keywords": null
},
{
"identifier": "Thyroid hormone resistance, generalized, autosomal recessive.",
"acronym": "GRTHR.",
"accession": "DI-03097",
"synonyms": "GTHR.; Refetoff syndrome.; Thyroid hormone unresponsiveness.; ",
"cross_references": "MeSH; D018382.",
"definition": "An autosomal recessive disorder characterized by goiter, clinical euthyroidism, end-organ unresponsiveness to thyroid hormone, abnormal growth and bone maturation, and deafness. Patients also have high levels of circulating thyroid hormones, with elevated thyroid stimulating hormone. ",
"keywords": null
},
{
"identifier": "Thyroid hormone resistance, generalized, autosomal dominant.",
"acronym": "GRTHD.",
"accession": "DI-01654",
"synonyms": "Familial euthyroid hyperthyroxinemia, secondary to pituitary and peripheral resistance to thyroid hormones.; GTHR.; Thyroid hormone unresponsiveness.; ",
"cross_references": "MeSH; D006981.",
"definition": "An autosomal dominant disease characterized by high levels of circulating thyroid hormones (T3-T4), goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. Affected individuals may also have attention deficit-hyperactivity disorders (ADHD) and language difficulties. Patients have normal or slightly elevated thyroid stimulating hormone (TSH). ",
"keywords": null
},
{
"identifier": "Thyroid hormone metabolism, abnormal, 2.",
"acronym": "THMA2.",
"accession": "DI-06406",
"synonyms": null,
"cross_references": "MeSH; D013959.",
"definition": "An autosomal dominant disorder characterized by slightly increased thyroid-stimulating hormone levels, and elevated serum reverse triiodothyronine (rT3) levels and rT3/T3 ratios. ",
"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": "Thyroid dyshormonogenesis 6.",
"acronym": "TDH6.",
"accession": "DI-00361",
"synonyms": "CHDH6.; Congenital hypothyroidism due to dyshormonogenesis type 6.; Genetic defect in thyroid hormonogenesis 6.; ",
"cross_references": "MeSH; D003409.",
"definition": "A disorder due to a defective conversion of accumulated iodide to organically bound iodine. The iodide organification defect can be partial or complete. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Thyroid dyshormonogenesis 5.",
"acronym": "TDH5.",
"accession": "DI-02527",
"synonyms": "CHDH5.; Congenital hypothyroidism due to dyshormonogenesis type 5.; Genetic defect in thyroid hormonogenesis type 5.; ",
"cross_references": "MeSH; D003409.",
"definition": "A disorder due to thyroid dyshormonogenesis, causing hypothyroidism, goiter, and variable mental deficits derived from unrecognized and untreated hypothyroidism. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Thyroid dyshormonogenesis 4.",
"acronym": "TDH4.",
"accession": "DI-01403",
"synonyms": "CHDH4.; Congenital hypothyroidism due to dyshormonogenesis type 4.; Deiodinase deficiency.; Genetic defect in thyroid hormonogenesis type 4.; Iodotyrosine dehalogenase deficiency.; ",
"cross_references": "MeSH; D003409.",
"definition": "A disorder due to thyroid dyshormonogenesis, causing severe hypothyroidism, goiter, excessive levels of iodotyrosine in serum and urine, and variable mental deficits derived from unrecognized and untreated hypothyroidism. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Thyroid dyshormonogenesis 3.",
"acronym": "TDH3.",
"accession": "DI-02526",
"synonyms": "CHDH3.; Congenital hypothyroidism due to dyshormonogenesis type 3.; Genetic defect in thyroid hormonogenesis type 3.; ",
"cross_references": "MeSH; D003409.",
"definition": "A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Thyroid dyshormonogenesis 2A.",
"acronym": "TDH2A.",
"accession": "DI-00360",
"synonyms": "CHDH2A.; Congenital hypothyroidism due to dyshormonogenesis type 2A.; Genetic defect in thyroid hormonogenesis 2A.; Iodide peroxidase deficiency.; Thyroid hormone organification defect 2.; TIOD.; ",
"cross_references": "MeSH; D003409.",
"definition": "A disorder due to defective conversion of accumulated iodide to organically bound iodine. The iodide organification defect can be partial or complete. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Thyroid dyshormonogenesis 1.",
"acronym": "TDH1.",
"accession": "DI-00359",
"synonyms": "CHDH1.; Congenital hypothyroidism due to dyshormonogenesis type 1.; Genetic defect in thyroid hormonogenesis 1.; Iodine accumulation, transport or trapping defect.; ",
"cross_references": "MeSH; D003409.",
"definition": "A disorder characterized by the inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Thyroid cancer, non-medullary, 5.",
"acronym": "NMTC5.",
"accession": "DI-04531",
"synonyms": "Thyroid cancer, nonmedullary, 5.; ",
"cross_references": "MeSH; D013964.",
"definition": "A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. ",
"keywords": null
},
{
"identifier": "Thyroid cancer, non-medullary, 4.",
"acronym": "NMTC4.",
"accession": "DI-04530",
"synonyms": "Thyroid cancer, nonmedullary, 4.; ",
"cross_references": "MeSH; D013964.",
"definition": "A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. ",
"keywords": null
},
{
"identifier": "Thyroid cancer, non-medullary, 2.",
"acronym": "NMTC2.",
"accession": "DI-04532",
"synonyms": null,
"cross_references": "MeSH; D013964.",
"definition": "A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. ",
"keywords": null
},
{
"identifier": "Thyroid cancer, non-medullary, 1.",
"acronym": "NMTC1.",
"accession": "DI-02698",
"synonyms": "Familial non-medullary thyroid cancer.; Familial nonmedullary thyroid cancer, papillary.; FNMTC.; NMTC.; Nonmedullary thyroid carcinoma.; Non-medullary thyroid carcinoma.; Nonmedullary thyroid carcinoma, papillary.; PACT.; Papillary carcinoma of thyroid.; PTC.; TPC.; ",
"cross_references": "MeSH; D013964.",
"definition": "A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. ",
"keywords": null
}
]
}