{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6400&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6360&ordering=-synonyms","results":[{"identifier":"Amyotrophic lateral sclerosis 10.","acronym":"ALS10.","accession":"DI-00114","synonyms":"Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and with TDP43 inclusions.; ","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.; "},{"identifier":"Glycogen storage disease 4.","acronym":"GSD4.","accession":"DI-00524","synonyms":"Amylopectinosis.; Andersen disease.; GBE1 deficiency.; Glycogen branching enzyme deficiency.; Glycogenosis IV.; Glycogen storage disease IV.; GSD IV.; GSD-IV.; ","cross_references":"MeSH; D006011.","definition":"A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity. ","keywords":"KW-0322:Glycogen storage disease.; "},{"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, 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, 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":"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 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":"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":"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":"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":"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":"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":"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":"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, 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 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 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 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 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, 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.; "}]}