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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1780&ordering=identifier",
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"results": [
{
"identifier": "Dentin dysplasia 1.",
"acronym": "DTDP1.",
"accession": "DI-03347",
"synonyms": "Dentin dysplasia Shields type I.; Radicular dentin dysplasia.; Rootless teeth.; ",
"cross_references": "MeSH; D003805.",
"definition": "A dental defect in which both primary and secondary dentitions are affected. The clinical crowns of both permanent and deciduous teeth are of normal shape, form and color in most cases, although they may be slightly opalescent and blue or brown. Teeth may be very mobile and exfoliate spontaneously because of inadequate root formation. On radiographs, the roots are short and may be more pointed than normal. Pulp chambers are usually absent except for a chevron-shaped remnant in the crown. Root canals are usually absent. ",
"keywords": null
},
{
"identifier": "Dentin dysplasia 1, with extreme microdontia and misshapen teeth.",
"acronym": "DTDP1-MMT.",
"accession": "DI-03348",
"synonyms": "Dentin dysplasia Shields type I.; Radicular dentin dysplasia.; Rootless teeth.; ",
"cross_references": "MeSH; D003805.",
"definition": "A complex dental malformation characterized by extreme microdontia, oligodontia, dental shape anomalies affecting both primary and permanent teeth, double permanent-tooth formation, thin enamel, and very short roots with a thin associated alveolar bone, as seen in the spectrum of dentin dysplasia type 1. ",
"keywords": null
},
{
"identifier": "Dentin dysplasia 2.",
"acronym": "DTDP2.",
"accession": "DI-01477",
"synonyms": "Anomalous dysplasia of dentin.; Coronal dentin dysplasia.; Dentin dysplasia Shields type II.; Pulpal dysplasia.; Pulp stones.; ",
"cross_references": "MeSH; D003805.",
"definition": "A dental defect in which the deciduous teeth are opalescent. The permanent teeth are of normal shape, form, and color in most cases. The root length is normal. On radiographs, the pulp chambers of permanent teeth are obliterated, have a thistle-tube deformity and contain pulp stones. ",
"keywords": null
},
{
"identifier": "Dentinogenesis imperfecta, Shields type 2.",
"acronym": "DGI2.",
"accession": "DI-01479",
"synonyms": "Capdepont teeth.; Dentinogenesis imperfecta 1.; Dentinogenesis imperfecta Shields type II.; Dentinogenesis imperfecta without osteogenesis imperfecta.; DGI1.; DGI-II.; Non-syndromic dentinogenesis imperfecta.; Non-syndromic DGI.; Opalescent dentin.; Opalescent teeth without osteogenesis imperfecta.; ",
"cross_references": "MeSH; D003811.",
"definition": "A form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI2 is not associated with osteogenesis imperfecta. ",
"keywords": null
},
{
"identifier": "Dentinogenesis imperfecta, Shields type 3.",
"acronym": "DGI3.",
"accession": "DI-01478",
"synonyms": "Brandywine type dentinogenesis imperfecta.; ",
"cross_references": "MeSH; D003811.",
"definition": "A form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI3 teeth typically manifest multiple periapical radiolucencies. DGI3 is not associated with osteogenesis imperfecta. ",
"keywords": null
},
{
"identifier": "Denys-Drash syndrome.",
"acronym": "DDS.",
"accession": "DI-01480",
"synonyms": null,
"cross_references": "MedGen; C0950121.",
"definition": "Typical nephropathy characterized by diffuse mesangial sclerosis, genital abnormalities, and/or Wilms tumor. There is phenotypic overlap with WAGR syndrome and Frasier syndrome. Inheritance is autosomal dominant, but most cases are sporadic. ",
"keywords": null
},
{
"identifier": "Dermatitis atopic 2.",
"acronym": "ATOD2.",
"accession": "DI-01194",
"synonyms": "Atopic eczema.; ",
"cross_references": "MeSH; D003876.",
"definition": "Atopic dermatitis is a complex, inflammatory disease with multiple alleles at several loci thought to be involved in the pathogenesis. It commonly begins in infancy or early childhood and is characterized by a chronic relapsing form of skin inflammation, a disturbance of epidermal barrier function that culminates in dry skin, and IgE- mediated sensitization to food and environmental allergens. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. ",
"keywords": null
},
{
"identifier": "Dermatopathia pigmentosa reticularis.",
"acronym": "DPR.",
"accession": "DI-00388",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "De Sanctis-Cacchione syndrome.",
"acronym": "DSC.",
"accession": "DI-00389",
"synonyms": "Xerodermic idiocy.; Xerodermic idiocy of de Sanctis and Cacchione.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive syndrome consisting of xeroderma pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs of xeroderma pigmentosum, patients present with intellectual disability, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset. ",
"keywords": "KW-0242:Dwarfism.; KW-0857:Xeroderma pigmentosum.; KW-0991:Intellectual disability.; "
},
{
"identifier": "DeSanto-Shinawi syndrome.",
"acronym": "DESSH.",
"accession": "DI-04620",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant syndrome characterized by developmental delay, hypotonia, behavioral problems, eye abnormalities, constipation, feeding difficulties, seizures and sleep problems. Patients exhibit dysmorphic features, including broad/prominent forehead, synophrys and/or bushy eyebrows, depressed nasal bridge and bulbous nasal tip. Additional variable features are posteriorly rotated ears, hirsutism, deep-set eyes, thin upper lip, inverted nipples, hearing loss and branchial cleft anomalies. ",
"keywords": null
},
{
"identifier": "Desbuquois dysplasia 1.",
"acronym": "DBQD1.",
"accession": "DI-02521",
"synonyms": "Desbuquois syndrome.; Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification.; ",
"cross_references": "MeSH; D019465.",
"definition": "A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Desbuquois dysplasia 2.",
"acronym": "DBQD2.",
"accession": "DI-04114",
"synonyms": "Baratela-Scott syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Desmoid disease, hereditary.",
"acronym": "DESMD.",
"accession": "DI-01711",
"synonyms": "Familial infiltrative fibromatosis.; FIF.; ",
"cross_references": "MeSH; D018222.",
"definition": "An autosomal dominant disease characterized by multifocal fibromatosis of the abdominal wall and mesentery. Desmoid tumors can also affect paraspinal muscles, breast, occiput, arms, and lower ribs. ",
"keywords": null
},
{
"identifier": "Desmosterolosis.",
"acronym": "DESMOS.",
"accession": "DI-01482",
"synonyms": null,
"cross_references": "MedGen; C1865596.",
"definition": "Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells. ",
"keywords": null
},
{
"identifier": "Developmental and epileptic encephalopathy 1.",
"acronym": "DEE1.",
"accession": "DI-00471",
"synonyms": "EIEE1.; Epileptic encephalopathy, early infantile, 1.; Infantile epileptic-dyskinetic encephalopathy.; Infantile spasm syndrome X-linked 1.; ISSX1.; Myoclonic epilepsy X-linked with intellectual disability and spasticity.; Ohtahara syndrome X-linked.; West syndrome X-linked.; XMESID.; ",
"cross_references": "MeSH; D013036.",
"definition": "A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 100.",
"acronym": "DEE100.",
"accession": "DI-06361",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE100 is an autosomal dominant, severe form characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 101.",
"acronym": "DEE101.",
"accession": "DI-06373",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE101 is an autosomal recessive, severe form characterized by onset of seizures in early infancy. Death in infancy may occur. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 102.",
"acronym": "DEE102.",
"accession": "DI-06430",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE102 is an autosomal recessive form characterized by onset of variable types of seizures in infancy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 103.",
"acronym": "DEE103.",
"accession": "DI-06431",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE103 is an autosomal dominant form characterized by onset of various types of seizures in the first year of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 104.",
"acronym": "DEE104.",
"accession": "DI-06457",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE104 is an autosomal dominant form characterized by onset of developmental delay and drug-resistant focal and generalized tonic-clonic seizures in the first few months of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
}
]
}