HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=340&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=300&ordering=synonyms",
"results": [
{
"identifier": "Amelogenesis imperfecta, hypomaturation type, 2A2.",
"acronym": "AI2A2.",
"accession": "DI-00092",
"synonyms": "Amelogenesis imperfecta 2 hypocalcification type.; Amelogenesis imperfecta pigmented hypomaturation type 2.; ",
"cross_references": "MeSH; D000567.",
"definition": "A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Amelogenesis imperfecta 3C.",
"acronym": "AI3C.",
"accession": "DI-05533",
"synonyms": "Amelogenesis imperfecta, hypocalcification type, autosomal recessive.; Amelogenesis imperfecta, type IIIC.; ",
"cross_references": "MeSH; D000567.",
"definition": "An autosomal recessive form of amelogenesis imperfecta, a defect of enamel formation. AI3C is characterized by generalized enamel hypocalcification affecting primary and secondary dentition. The surface of the enamel is rough and often stained. After eruption, the occlusal enamel on the molars disappears due to attrition, leaving a ring of intact enamel remaining on the sides. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Amelogenesis imperfecta, hypomaturation type, 2A3.",
"acronym": "AI2A3.",
"accession": "DI-02570",
"synonyms": "Amelogenesis imperfecta hypomaturation type IIA3.; ",
"cross_references": "MeSH; D000567.",
"definition": "A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Amelogenesis imperfecta, hypomaturation type, 2A6.",
"acronym": "AI2A6.",
"accession": "DI-04871",
"synonyms": "Amelogenesis imperfecta, hypomaturation type, IIA6.; ",
"cross_references": "MeSH; D000567.",
"definition": "A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Amelogenesis imperfecta 1A.",
"acronym": "AI1A.",
"accession": "DI-04344",
"synonyms": "Amelogenesis imperfecta, hypoplastic type IA.; Amelogenesis imperfecta type IA.; ",
"cross_references": "MeSH; D000567.",
"definition": "A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Amelogenesis imperfecta 1F.",
"acronym": "AI1F.",
"accession": "DI-04358",
"synonyms": "Amelogenesis imperfecta, hypoplastic type IF.; Amelogenesis imperfecta type IF.; ",
"cross_references": "MeSH; D000567.",
"definition": "A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1F is characterized by hypoplastic enamel of the primary and secondary dentition. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Amelogenesis imperfecta 1K.",
"acronym": "AI1K.",
"accession": "DI-06535",
"synonyms": "Amelogenesis imperfecta, hypoplastic type IK.; ",
"cross_references": "MeSH; D000567.",
"definition": "A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1K is an autosomal dominant form characterized by hypoplastic enamel in all teeth. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Amelogenesis imperfecta 1C.",
"acronym": "AI1C.",
"accession": "DI-00090",
"synonyms": "Amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive.; Amelogenesis imperfecta local hypoplastic type autosomal recessive.; Amelogenesis imperfecta type IC.; ",
"cross_references": "MeSH; D000567.",
"definition": "An autosomal recessive defect of dental enamel formation. Teeth show local hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Amelogenesis imperfecta, hypomaturation type, 2A4.",
"acronym": "AI2A4.",
"accession": "DI-03537",
"synonyms": "Amelogenesis imperfecta pigmented hypomaturation type IIA4.; ",
"cross_references": "MeSH; D000567.",
"definition": "A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Amelogenesis imperfecta 1H.",
"acronym": "AI1H.",
"accession": "DI-04338",
"synonyms": "Amelogenesis imperfecta, type 1H.; ",
"cross_references": "MeSH; D000567.",
"definition": "A disorder characterized by defective enamel formation, resulting in hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Amelogenesis imperfecta 3B.",
"acronym": "AI3B.",
"accession": "DI-05066",
"synonyms": "Amelogenesis imperfecta, type IIIB.; ",
"cross_references": "MeSH; D000567.",
"definition": "An autosomal dominant form of amelogenesis imperfecta, a defect of enamel formation. AI3B is characterized by hypomineralized enamel that has reduced tickness and exhibits structural defects. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Microcephaly, Amish type.",
"acronym": "MCPHA.",
"accession": "DI-00750",
"synonyms": "Amish lethal microcephaly.; ",
"cross_references": "MeSH; D008831.",
"definition": "A disorder characterized by severe congenital microcephaly and severe 2-ketoglutaric aciduria leading to death within the first year. ",
"keywords": null
},
{
"identifier": "Nemaline myopathy 5A, autosomal recessive, severe infantile.",
"acronym": "NEM5A.",
"accession": "DI-02036",
"synonyms": "Amish nemaline myopathy.; ANM.; Nemaline myopathy Amish type.; TNNT1-related nemaline myopathy.; ",
"cross_references": "MeSH; D017696.",
"definition": "A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM5A is a severe and progressive form characterized by symptom onset soon after birth or in early infancy. Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips. Proximal contractures progressively weaken and a pectus carinatum deformity develops before children die of respiratory insufficiency, usually in the second year. ",
"keywords": "KW-1057:Nemaline myopathy.; "
},
{
"identifier": "Adenosine monophosphate deaminase deficiency erythrocyte type.",
"acronym": "AMPDDE.",
"accession": "DI-00038",
"synonyms": "AMP deaminase deficiency erythrocyte type.; Erythrocyte AMP deaminase deficiency.; ",
"cross_references": "MeSH; D008659.",
"definition": "A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders. ",
"keywords": null
},
{
"identifier": "Cornelia de Lange syndrome 1.",
"acronym": "CDLS1.",
"accession": "DI-00379",
"synonyms": "Amstelodamensis typus degenerativus.; ",
"cross_references": "MeSH; D003635.",
"definition": "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Corneal dystrophy, gelatinous drop-like.",
"acronym": "GDLD.",
"accession": "DI-01651",
"synonyms": "Amyloid corneal dystrophy Japanese type.; CDGDL.; Corneal amyloidosis.; Lattice corneal dystrophy type III.; ",
"cross_references": "MeSH; D028226.",
"definition": "A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. GDLD is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity. ",
"keywords": "KW-1008:Amyloidosis.; KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Amyloidosis, hereditary systemic 2.",
"acronym": "AMYLD2.",
"accession": "DI-00104",
"synonyms": "Amyloidosis 8.; Amyloidosis VIII.; Familial amyloid nephropathy.; Familial renal amyloidosis.; Familial visceral amyloidosis.; German type amyloidosis.; Ostertag type amyloidosis.; Systemic non-neuropathic amyloidosis.; ",
"cross_references": "MeSH; D028226.",
"definition": "A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD2 is an autosomal dominant form characterized by deposition of amyloid preferentially in the glomeruli of the kidney. It clinically presents with hypertension, proteinuria, and finally azotemia. Involvement of liver and spleen may be seen in advanced cases, but heavy glomerular deposition without significant medium sized vessel involvement is characteristic of the disease. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Cerebral amyloid angiopathy, APP-related.",
"acronym": "CAA-APP.",
"accession": "DI-00097",
"synonyms": "Amyloidosis cerebroarterial APP-related.; Amyloidosis hereditary with cerebral hemorrhage Dutch variant.; Cerebral amyloid angiopathy APP-related Arctic variant.; Cerebral amyloid angiopathy APP-related Dutch variant.; Cerebral amyloid angiopathy APP-related Flemish variant.; Cerebral amyloid angiopathy APP-related Iowa variant.; Cerebral amyloid angiopathy APP-related Italian variant.; Familial occipital calcifications with hemorrhagic strokes leukoencephalopathy arterial dysplasia dementia.; FOCHS-LADD.; HCHWAD.; HCHWA-D.; Hereditary cerebral amyloid angiopathy Dutch type.; Hereditary cerebral hemorrhage with amyloidosis Dutch type.; Hereditary cerebral hemorrhage with amyloidosis Italian type.; ",
"cross_references": "MeSH; D028243.",
"definition": "A hereditary localized amyloidosis due to amyloid-beta A4 peptide(s) deposition in the cerebral vessels. The principal clinical characteristics are recurrent cerebral and cerebellar hemorrhages, recurrent strokes, cerebral ischemia, cerebral infarction, and progressive mental deterioration. Patients develop cerebral hemorrhage because of the severe cerebral amyloid angiopathy. Parenchymal amyloid deposits are rare and largely in the form of pre-amyloid lesions or diffuse plaque-like structures. They are Congo red negative and lack the dense amyloid cores commonly present in Alzheimer disease. Some affected individuals manifest progressive aphasic dementia, leukoencephalopathy, and occipital calcifications. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Amyloidosis, hereditary systemic 3.",
"acronym": "AMYLD3.",
"accession": "DI-06894",
"synonyms": "Amyloidosis, Iowa type.; Amyloidosis, type III.; Amyloidosis, type VI.; Amyloidosis, van Allen type.; ",
"cross_references": "MeSH; D028226.",
"definition": "A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD3 clinical features include amyloid neuropathy, nephropathy, hepatopathy, and cardiomyopathy. Inheritance is autosomal dominant. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Amyloidosis, primary localized cutaneous, 1.",
"acronym": "PLCA1.",
"accession": "DI-00105",
"synonyms": "Amyloidosis IX.; Amyloidosis type 9.; Familial lichen amyloidosis.; PCA.; PLCA.; Primary cutaneous amyloidosis.; Primary localized cutaneous amyloidosis.; ",
"cross_references": "MeSH; D028226.",
"definition": "A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins. ",
"keywords": "KW-1008:Amyloidosis.; "
}
]
}