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"count": 6723,
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"results": [
{
"identifier": "Trichothiodystrophy 2, photosensitive.",
"acronym": "TTD2.",
"accession": "DI-04433",
"synonyms": null,
"cross_references": "MeSH; D054463.",
"definition": "A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. ",
"keywords": null
},
{
"identifier": "Trichothiodystrophy 1, photosensitive.",
"acronym": "TTD1.",
"accession": "DI-01104",
"synonyms": "IBIDS syndrome.; Ichthyosiform erythroderma with hair abnormality and mental and growth retardation.; Ichthyosis, congenital, with trichothiodystrophy.; Ichthyosis with brittle hair, intellectual impairment, decreased fertility and short stature.; PIBIDS syndrome.; Tay syndrome.; Trichothiodystrophy photosensitive.; Trichothiodystrophy with congenital ichthyosis.; TTDP.; ",
"cross_references": "MeSH; D054463.",
"definition": "A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD1 patients manifest cutaneous photosensitivity. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Tricho-rhino-phalangeal syndrome 3.",
"acronym": "TRPS3.",
"accession": "DI-02386",
"synonyms": "Trichorhinophalangeal syndrome type III.; ",
"cross_references": "MedGen; C1860823.",
"definition": "Autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 1. In TRPS3 a more severe brachydactyly and growth retardation are observed. ",
"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
},
{
"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": "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": "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": "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": "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": "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": "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": "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 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 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": "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": "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": "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 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 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": "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
}
]
}