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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6400",
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"results": [
{
"identifier": "Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 4.",
"acronym": "TEBIVANED4.",
"accession": "DI-06449",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay with poor overall growth, variably impaired intellectual development, learning difficulties, distal skeletal anomalies, and dysmorphic facies. Some patients have visual or hearing deficits. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Testicular anomalies with or without congenital heart disease.",
"acronym": "TACHD.",
"accession": "DI-03956",
"synonyms": null,
"cross_references": "MeSH; D058490.",
"definition": "A 46,XY disorder of sex development with variable clinical presentation and defects in testicular differentiation and function. Clinical features include ambiguous genitalia, fused labioscrotal folds, hypospadias, microphallus, and bilateral inguinal hernia containing gonads. ",
"keywords": null
},
{
"identifier": "Testicular germ cell tumor.",
"acronym": "TGCT.",
"accession": "DI-02749",
"synonyms": "Embryonal cell carcinoma.; Endodermal sinus tumor.; Male germ cell tumor.; MGCT.; Nonseminomatous germ cell tumors.; Seminoma.; Spermatocytic seminoma.; Teratoma testicular.; ",
"cross_references": "MeSH; D018239.",
"definition": "A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including: unclassified intratubular germ cell neoplasia, seminoma (including cases with syncytiotrophoblastic cells), spermatocytic seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma. ",
"keywords": null
},
{
"identifier": "Tetraamelia syndrome 1.",
"acronym": "TETAMS1.",
"accession": "DI-01262",
"synonyms": "Autosomal recessive tetra-amelia.; Tetraamelia syndrome, autosomal recessive.; ",
"cross_references": "MeSH; D004480.",
"definition": "A form of tetraamelia, a rare disease characterized by rudimentary appendages or complete absence of all four limbs, and other anomalies such as craniofacial, nervous system, pulmonary, skeletal and urogenital defects. TETAMS1 patients manifest complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects. TETAMS1 transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": null
},
{
"identifier": "Tetraamelia syndrome 2.",
"acronym": "TETAMS2.",
"accession": "DI-05280",
"synonyms": null,
"cross_references": "MeSH; D004480.",
"definition": "A form of tetraamelia, a rare disease characterized by rudimentary appendages or complete absence of all four limbs, and other anomalies such as craniofacial, nervous system, pulmonary, skeletal and urogenital defects. TETAMS2 patients manifest limb deformities, bilateral agenesis of the lungs, abnormalities of the pulmonary vasculature, labioscrotal fold aplasia, and dysmorphic features including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, and microretrognathia. TETAMS2 transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": null
},
{
"identifier": "Tetralogy of Fallot.",
"acronym": "TOF.",
"accession": "DI-02362",
"synonyms": null,
"cross_references": "MeSH; D013771.",
"definition": "A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. ",
"keywords": null
},
{
"identifier": "Thanatophoric dysplasia 1.",
"acronym": "TD1.",
"accession": "DI-02363",
"synonyms": "Lethal short-limbed platyspondylic dwarfism San Diego type.; Platyspondylic lethal skeletal dysplasia San Diego type.; Thanatophoric dwarfism.; Thanatophoric dysplasia type I.; ",
"cross_references": "MeSH; D013796.",
"definition": "A neonatal lethal skeletal dysplasia. Affected individuals manifest severe shortening of the limbs with macrocephaly, narrow thorax, short ribs, and curved femurs. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Thanatophoric dysplasia 2.",
"acronym": "TD2.",
"accession": "DI-03093",
"synonyms": "Cloverleaf skull with thanatophoric dwarfism.; Thanatophoric dysplasia type II.; Thanatophoric dysplasia with kleeblattschaedel.; Thanatophoric dysplasia with straight femurs and cloverleaf skull.; ",
"cross_references": "MeSH; D013796.",
"definition": "A neonatal lethal skeletal dysplasia causing severe shortening of the limbs, narrow thorax and short ribs. Patients with thanatophoric dysplasia type 2 have straight femurs and cloverleaf skull. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Thauvin-Robinet-Faivre syndrome.",
"acronym": "TROFAS.",
"accession": "DI-04839",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "A rare autosomal recessive syndrome characterized by generalized overgrowth, developmental delay, learning disabilities, and variable congenital abnormalities including congenital heart defects, renal dysplasia, and skeletal defects. ",
"keywords": null
},
{
"identifier": "Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type.",
"acronym": "THMD4.",
"accession": "DI-03011",
"synonyms": "Bilateral striatal degeneration and progressive polyneuropathy.; Striatal necrosis, bilateral and progressive polyneuropathy.; ",
"cross_references": "MeSH; D001480.",
"definition": "A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type.",
"acronym": "THMD5.",
"accession": "DI-03377",
"synonyms": "Episodic encephalopathy due to thiamine pyrophosphokinase deficiency.; ",
"cross_references": "MeSH; D020739.",
"definition": "An autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits. ",
"keywords": null
},
{
"identifier": "Thiamine-responsive megaloblastic anemia syndrome.",
"acronym": "TRMA.",
"accession": "DI-02365",
"synonyms": "Megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness.; Rogers syndrome.; Thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type).; Thiamine-responsive anemia syndrome.; Thiamine-responsive myelodysplasia.; THMD1.; ",
"cross_references": "MeSH; D006319.",
"definition": "An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke. ",
"keywords": "KW-0209:Deafness.; KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Thrombocythemia 1.",
"acronym": "THCYT1.",
"accession": "DI-01538",
"synonyms": "Essential thrombocythemia.; Thrombocytosis 1.; ",
"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": "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": "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 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 11 with multiple congenital anomalies and dysmorphic facies.",
"acronym": "THC11.",
"accession": "DI-06814",
"synonyms": null,
"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. THC11 is an autosomal dominant, syndromic form. Affected individuals have chronic and persistent thrombocytopenia, dysmorphic facial features, and multiple congenital anomalies with involvement of the cardiovascular, genitourinary, neurologic and skeletal systems. Additional features include leukopenia or anemia, poor growth with microcephaly, hypotonia, and mildly impaired intellectual development or learning disabilities. ",
"keywords": null
},
{
"identifier": "Thrombocytopenia 12 with or without myopathy.",
"acronym": "THC12.",
"accession": "DI-06867",
"synonyms": null,
"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. THC12 is an autosomal recessive form manifesting from infancy or early childhood with bleeding episodes. Clinical features include petechiae, easy bruising, epistaxis, hematomas, menorrhagia, and increased bleeding after trauma or surgery. Rare patients may have thrombocytopenia without bleeding. Some affected individuals have myopathic features, usually apparent in the second or third decades of life. ",
"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
}
]
}