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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=240&ordering=identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=200&ordering=identifier",
"results": [
{
"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 4.",
"acronym": "AI4.",
"accession": "DI-00094",
"synonyms": "AIHHT.; AIT.; Amelogenesis imperfecta 2 hypocalcification type.; Amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism.; Amelogenesis imperfecta hypomineralization type.; Amelogenesis imperfecta type IV.; Amelogenesis imperfecta with taurodontism.; ",
"cross_references": "MeSH; D000567.",
"definition": "An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Amelogenesis imperfecta, hypomaturation type, 2A1.",
"acronym": "AI2A1.",
"accession": "DI-00091",
"synonyms": "AIPH.; Amelogenesis imperfecta 2 hypocalcification type.; Amelogenesis imperfecta hypomineralization type.; Amelogenesis imperfecta pigmented hypomaturation type 1.; ",
"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, 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, 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, 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, hypomaturation type, 2A5.",
"acronym": "AI2A5.",
"accession": "DI-04153",
"synonyms": null,
"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": "Aminoacylase-1 deficiency.",
"acronym": "ACY1D.",
"accession": "DI-00095",
"synonyms": "Encephalopathy associated with aminoacylase 1 deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "An enzymatic deficiency resulting in encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids. ",
"keywords": null
},
{
"identifier": "AMME complex.",
"acronym": "ATS-MR.",
"accession": "DI-01183",
"synonyms": "Alport syndrome with intellectual disability, midface hypoplasia and elliptocytosis.; ",
"cross_references": "MeSH; D009394.",
"definition": "An X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, intellectual disability, midface hypoplasia and elliptocytosis. ",
"keywords": "KW-0023:Alport syndrome.; KW-0209:Deafness.; KW-0250:Elliptocytosis.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Amyloidosis, hereditary systemic 1.",
"acronym": "AMYLD1.",
"accession": "DI-00100",
"synonyms": "Amyloidosis, transthyretin-related.; Amyloidosis I.; Amyloidosis Ohio type.; Amyloidosis type 7.; Amyloidosis VII.; Amyloid polyneuropathy.; ATTR.; Familial amyloid polyneuropathy.; Familial amyloid polyneuropathy type I.; Familial amyloid polyneuropathy type II.; FAP.; Hereditary amyloidosis transthyretin-related.; Leptomeningeal amyloidosis.; Meningocerebrovascular amyloidosis.; Oculoleptomeningeal amyloidosis.; Transthyretin amyloid neuropathy.; Transthyretin amyloidosis.; Transthyretin amyloid polyneuropathy.; TTR amyloid neuropathy.; ",
"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. AMYLD1 is an autosomal dominant form due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"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": "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, hereditary systemic 4, Finnish type.",
"acronym": "AMYLD4.",
"accession": "DI-00101",
"synonyms": "AGel.; Amyloid cranial neuropathy with lattice corneal dystrophy.; Amyloidosis 5.; Amyloidosis due to mutant gelsolin.; Amyloidosis V.; Familial amyloidosis Finnish type.; Familial amyloid polyneuropathy type IV.; Finnish type amyloidosis.; Gelsolin amyloidosis.; Lattice corneal dystrophy type II.; Meretoja type 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. AMYLD4 is due to gelsolin amyloid deposition and is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure. AMYLD4 is usually inherited in an autosomal dominant pattern. However, homozygotes with a more severe phenotype have also been reported. ",
"keywords": "KW-1008:Amyloidosis.; KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Amyloidosis, hereditary systemic 5.",
"acronym": "AMYLD5.",
"accession": "DI-06895",
"synonyms": null,
"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. AMYLD5 primarily affects the viscera, and the predominant clinical features are renal dysfunction of varying severity, and intra-abdominal bleeding. Inheritance is autosomal dominant. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Amyloidosis, hereditary systemic 6.",
"acronym": "AMYLD6.",
"accession": "DI-06896",
"synonyms": null,
"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. AMYLD6 is mainly characterized by gastrointestinal and cardiac symptoms. Neurologic involvement, sicca syndrome, and carpal tunnel syndrome may also be present. 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.; "
},
{
"identifier": "Amyloidosis, primary localized cutaneous, 2.",
"acronym": "PLCA2.",
"accession": "DI-03102",
"synonyms": null,
"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.; "
},
{
"identifier": "Amyloidosis, primary localized cutaneous, 3.",
"acronym": "PLCA3.",
"accession": "DI-05216",
"synonyms": "ACD.; Amyloidosis cutis dyschromica.; ",
"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. PLCA3 inheritance is autosomal recessive. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Amyotrophic lateral sclerosis.",
"acronym": "ALS.",
"accession": "DI-00107",
"synonyms": "Charcot disease.; Lou Gehrig disease.; MND.; Motor neuron disease.; ",
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
}
]
}