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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=280&ordering=-identifier",
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"results": [
{
"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": "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 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 bullous dermolysis of the newborn.",
"acronym": "TBDN.",
"accession": "DI-01103",
"synonyms": "Epidermolysis bullosa dystrophica dominant neonatal type.; ",
"cross_references": "MeSH; D016108.",
"definition": "TBDN is a neonatal form of dystrophic epidermolysis bullosa characterized by sub-epidermal blisters, reduced or abnormal anchoring fibrils at the dermo-epidermal junction, and electron-dense inclusions in keratinocytes. TBDN heals spontaneously or strongly improves within the first months and years of life. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"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
},
{
"identifier": "Transaldolase deficiency.",
"acronym": "TALDOD.",
"accession": "DI-02377",
"synonyms": "Eyaid syndrome.; TALDO deficiency.; ",
"cross_references": "MeSH; D002239.",
"definition": "An inborn error of the pentose phosphate pathway resulting in early- onset multisystem disease. Clinical features include growth retardation, dysmorphic features, cutis laxa, congenital heart disease, hepatosplenomegaly, telangiectases of the skin, pancytopenia, and bleeding tendency. ",
"keywords": null
},
{
"identifier": "Townes-Brocks syndrome 2.",
"acronym": "TBS2.",
"accession": "DI-04995",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A form of Townes-Brocks syndrome, a rare autosomal dominant disease characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease. ",
"keywords": null
},
{
"identifier": "Townes-Brocks syndrome 1.",
"acronym": "TBS1.",
"accession": "DI-02376",
"synonyms": "Anus, imperforate, with hand, foot, and ear anomalies.; Deafness, sensorineural, with imperforate anus and thumb anomalies.; Rear syndrome.; Renal-ear-anal-radial syndrome.; Townes-Brocks branchiootorenal-like syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "A form of Townes-Brocks syndrome, a rare autosomal dominant disease characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Total anomalous pulmonary venous return.",
"acronym": "TAPVR.",
"accession": "DI-02375",
"synonyms": null,
"cross_references": "MedGen; C0036400.",
"definition": "Rare congenital heart disease (CHD) in which the pulmonary veins fail to connect to the left atrium during cardiac development, draining instead into either the right atrium or one of its venous tributaries. This disease accounts for 1.5% of all CHDs and has a prevalence of approximately 1 out of 15'000 live births. ",
"keywords": null
},
{
"identifier": "Tortuosity of retinal arteries.",
"acronym": "RATOR.",
"accession": "DI-04437",
"synonyms": "Retinal arteries, tortuosity of.; Retinal hemorrhage with vascular tortuosity.; ",
"cross_references": "MeSH; D012166.",
"definition": "A disease characterized by marked tortuosity of second- and third- order retinal arteries with normal first-order arteries and venous system. Most patients manifest variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma. ",
"keywords": null
},
{
"identifier": "Tooth agenesis, selective, X-linked, 1.",
"acronym": "STHAGX1.",
"accession": "DI-01788",
"synonyms": "Hypodontia/oligodontia X-linked 1.; ",
"cross_references": "MeSH; D000848.",
"definition": "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). ",
"keywords": null
},
{
"identifier": "Tooth agenesis, selective, 9.",
"acronym": "STHAG9.",
"accession": "DI-04899",
"synonyms": null,
"cross_references": "MeSH; D000848.",
"definition": "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG9 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Tooth agenesis, selective, 8.",
"acronym": "STHAG8.",
"accession": "DI-04805",
"synonyms": "Selective tooth agenesis 8.; ",
"cross_references": "MeSH; D000848.",
"definition": "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG8 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Tooth agenesis, selective, 7.",
"acronym": "STHAG7.",
"accession": "DI-04606",
"synonyms": "Selective tooth agenesis 7.; ",
"cross_references": "MeSH; D000848.",
"definition": "An autosomal dominant form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). ",
"keywords": null
},
{
"identifier": "Tooth agenesis, selective, 4.",
"acronym": "STHAG4.",
"accession": "DI-03619",
"synonyms": "Absence of lateral incisors.; Agenesis of succedaneous teeth.; Pegged or missing lateral incisors.; Selective tooth agenesis 4.; Tooth agenesis, selective, 4, with or without ectodermal dysplasia.; ",
"cross_references": "MeSH; D000848.",
"definition": "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). In STHAG4, the upper lateral incisors are absent or peg- shaped. Some STHAG4 patients manifest mild features of ectodermal dysplasia, including sparse hair, sparse eyebrows, short eyelashes, abnormalities of the nails, sweating anomalies and dry skin. STHAG4 inheritance is autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Tooth agenesis, selective, 3.",
"acronym": "STHAG3.",
"accession": "DI-02091",
"synonyms": "HYD3.; Hypodontia/oligodontia 3.; Selective tooth agenesis 3.; ",
"cross_references": "MeSH; D000848.",
"definition": "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). ",
"keywords": null
},
{
"identifier": "Tooth agenesis, selective, 10.",
"acronym": "STHAG10.",
"accession": "DI-06568",
"synonyms": null,
"cross_references": "MeSH; D000848.",
"definition": "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG10 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Tooth agenesis, selective, 1.",
"acronym": "STHAG1.",
"accession": "DI-01211",
"synonyms": "Absence of second premolars and third molars.; Familial tooth agenesis.; HYD1.; Hypodontia/oligodontia 1.; Hypodontia/oligodontia with orofacial cleft.; Selective tooth agenesis 1.; Selective tooth agenesis with orofacial cleft.; ",
"cross_references": "MeSH; D000848.",
"definition": "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG1 can be associated with orofacial cleft in some patients. ",
"keywords": null
},
{
"identifier": "Tonne-Kalscheuer syndrome.",
"acronym": "TOKAS.",
"accession": "DI-04795",
"synonyms": "MRX61.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked recessive disorder characterized by global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, abnormal gait, dysmorphic facial features, limb anomalies, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Tolchin-Le Caignec syndrome.",
"acronym": "TOLCAS.",
"accession": "DI-05890",
"synonyms": "Intellectual developmental disorder with behavioral abnormalities and variable bone defects.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, attention deficit and hyperactivity disorder, and aggressive episodes. Highly variable, additional features include osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
}
]
}