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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6480",
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"results": [
{
"identifier": "Transient familial neonatal hyperbilirubinemia.",
"acronym": "HBLRTFN.",
"accession": "DI-02379",
"synonyms": "Lucey-Driscoll syndrome.; ",
"cross_references": "MedGen; C1855967.",
"definition": "A condition characterized by excessive concentration of bilirubin in the blood, which may lead to jaundice. Breast milk jaundice is a common problem in nursing infants. ",
"keywords": null
},
{
"identifier": "Transient neonatal diabetes mellitus 2.",
"acronym": "TNDM2.",
"accession": "DI-02381",
"synonyms": null,
"cross_references": "MedGen; C1835887.",
"definition": "Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. Transient neonatal diabetes remits early, with a possible relapse during adolescence. ",
"keywords": null
},
{
"identifier": "Transient neonatal diabetes mellitus 3.",
"acronym": "TNDM3.",
"accession": "DI-02382",
"synonyms": null,
"cross_references": "MedGen; C1864623.",
"definition": "Neonatal diabetes mellitus, defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. In a significant number of patients with transient neonatal diabetes mellitus, diabetes type 2 appears later in life. The onset and severity of TNDM3 is variable with childhood-onset diabetes, gestational diabetes or adult-onset diabetes described. ",
"keywords": null
},
{
"identifier": "Transposition of the great arteries dextro-looped 1.",
"acronym": "DTGA1.",
"accession": "DI-02383",
"synonyms": "D-TGA.; ",
"cross_references": "MeSH; D014188.",
"definition": "A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries. ",
"keywords": null
},
{
"identifier": "Treacher Collins syndrome 1.",
"acronym": "TCS1.",
"accession": "DI-02384",
"synonyms": "Mandibulofacial dysostosis.; MFD1.; TCOF.; TCS.; Treacher Collins-Franceschetti syndrome.; Treacher Collins syndrome.; ",
"cross_references": "MeSH; D008342.",
"definition": "A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. ",
"keywords": null
},
{
"identifier": "Treacher Collins syndrome 2.",
"acronym": "TCS2.",
"accession": "DI-02964",
"synonyms": null,
"cross_references": "MeSH; D008342.",
"definition": "A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. ",
"keywords": null
},
{
"identifier": "Treacher Collins syndrome 3.",
"acronym": "TCS3.",
"accession": "DI-02965",
"synonyms": "Mandibulofacial dysostosis Treacher Collins type autosomal recessive.; ",
"cross_references": "MeSH; D008342.",
"definition": "A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. ",
"keywords": null
},
{
"identifier": "Treacher Collins syndrome 4.",
"acronym": "TCS4.",
"accession": "DI-05871",
"synonyms": "Treacher-Collins syndrome 4.; ",
"cross_references": "MeSH; D008342.",
"definition": "A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. TCS4 inheritance pattern is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Trehalase deficiency.",
"acronym": "TREHD.",
"accession": "DI-05182",
"synonyms": "Trehalose intolerance.; ",
"cross_references": "MeSH; D030342.",
"definition": "An autosomal recessive condition characterized by the inability to digest trehalose, a disaccharide found in mushrooms, products containing baker's yeast, and dried food. Individuals with trehalase deficiency suffer from abdominal pain, increased rectal flatulence, and diarrhea due to osmotic water flow into the colon. ",
"keywords": null
},
{
"identifier": "Tremor, hereditary essential 1.",
"acronym": "ETM1.",
"accession": "DI-02733",
"synonyms": null,
"cross_references": "MeSH; D020329.",
"definition": "A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles may also be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Tremor, hereditary essential 4.",
"acronym": "ETM4.",
"accession": "DI-03518",
"synonyms": null,
"cross_references": "MeSH; D020329.",
"definition": "A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles may also be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Tremor, hereditary essential 5.",
"acronym": "ETM5.",
"accession": "DI-04630",
"synonyms": null,
"cross_references": "MeSH; D020329.",
"definition": "A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles may also be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Tremor, hereditary essential 6.",
"acronym": "ETM6.",
"accession": "DI-05828",
"synonyms": null,
"cross_references": "MeSH; D020329.",
"definition": "A form of essential tremor, a common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles may also be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. ETM6 inheritance is autosomal dominant. ",
"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": "Trichohepatoenteric syndrome 1.",
"acronym": "THES1.",
"accession": "DI-03421",
"synonyms": "Fatal infantile diarrhea with trichorrhexis nodosa.; Intractable diarrhea with phenotypic anomalies.; Phenotypic diarrhea of infancy.; Syndromic diarrhea.; THE syndrome.; ",
"cross_references": "MeSH; D003968.",
"definition": "A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients. ",
"keywords": null
},
{
"identifier": "Trichohepatoenteric syndrome 2.",
"acronym": "THES2.",
"accession": "DI-03422",
"synonyms": null,
"cross_references": "MeSH; D003968.",
"definition": "A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients. ",
"keywords": null
},
{
"identifier": "Trichohepatoneurodevelopmental syndrome.",
"acronym": "THNS.",
"accession": "DI-05454",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and global developmental delay. ",
"keywords": null
},
{
"identifier": "Trichomegaly.",
"acronym": "TCMGLY.",
"accession": "DI-04213",
"synonyms": "Goldstein Hutt syndrome.; Long eyelashes.; Movie lashes.; ",
"cross_references": "MeSH; D005128.",
"definition": "A morphologic trait characterized by unusually long eyelashes and mild hypertrichosis of eyebrows. It can be observed in association with corneal irritation, cataracts, and hereditary spherocytosis. ",
"keywords": null
},
{
"identifier": "Tricho-rhino-phalangeal syndrome 1.",
"acronym": "TRPS1.",
"accession": "DI-02385",
"synonyms": "Trichorhinophalangeal syndrome type I.; ",
"cross_references": "MedGen; C0432233.",
"definition": "Autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 3. Typical features include sparse scalp hair, a bulbous tip of the nose, protruding ears, a long flat philtrum and a thin upper vermilion border. Skeletal defects include cone-shaped epiphyses at the phalanges, hip malformations and short stature. ",
"keywords": null
},
{
"identifier": "Tricho-rhino-phalangeal syndrome 2.",
"acronym": "TRPS2.",
"accession": "DI-02005",
"synonyms": null,
"cross_references": "MedGen; C0023003.",
"definition": "A syndrome that combines the clinical features of tricho-rhino- phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and intellectual disability. ",
"keywords": null
}
]
}