{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=220","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=180","results":[{"identifier":"Alzheimer disease 2.","acronym":"AD2.","accession":"DI-02694","synonyms":"Alzheimer disease associated with APOE4.; Late-onset Alzheimer disease.; ","cross_references":"MeSH; D000544.","definition":"A late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. ","keywords":"KW-0026:Alzheimer disease.; KW-0523:Neurodegeneration.; KW-1008:Amyloidosis.; "},{"identifier":"Alzheimer disease 3.","acronym":"AD3.","accession":"DI-00086","synonyms":"Early-onset familial Alzheimer disease 3.; Familial Alzheimer disease 3.; Familial Alzheimer disease 3 with spastic paraparesis and apraxia.; Familial Alzheimer disease 3 with spastic paraparesis and unusual plaques.; ","cross_references":"MeSH; D000544.","definition":"A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid- beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. ","keywords":"KW-0026:Alzheimer disease.; KW-0523:Neurodegeneration.; KW-1008:Amyloidosis.; "},{"identifier":"Alzheimer disease 4.","acronym":"AD4.","accession":"DI-00087","synonyms":"Alzheimer disease, familial, 4.; ","cross_references":"MeSH; D000544.","definition":"A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid- beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. ","keywords":"KW-0026:Alzheimer disease.; KW-0523:Neurodegeneration.; KW-1008:Amyloidosis.; "},{"identifier":"Alzheimer disease 9.","acronym":"AD9.","accession":"DI-04711","synonyms":null,"cross_references":"MeSH; D000544.","definition":"A familial, late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid- beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. ","keywords":"KW-0026:Alzheimer disease.; KW-0523:Neurodegeneration.; KW-1008:Amyloidosis.; "},{"identifier":"Alzheimer disease mitochondrial.","acronym":"AD-MT.","accession":"DI-02761","synonyms":null,"cross_references":"MeSH; D000544.","definition":"Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. ","keywords":"KW-0026:Alzheimer disease.; KW-0523:Neurodegeneration.; KW-1008:Amyloidosis.; "},{"identifier":"AMED syndrome, digenic.","acronym":"AMEDS.","accession":"DI-06008","synonyms":"ADDS.; Aldehyde degradation deficiency syndrome.; BMFS7.; Bone marrow failure syndrome 7, digenic.; ","cross_references":"MeSH; D000080983.","definition":"A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. AMEDS is an autosomal recessive, digenic form characterized by childhood onset of bone marrow failure resulting in aplastic anemia, in association with global developmental delay, intellectual disability, and poor overall growth with short stature. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Amegakaryocytic thrombocytopenia, congenital, 1.","acronym":"CAMT1.","accession":"DI-01388","synonyms":null,"cross_references":"MeSH; D013921.","definition":"An autosomal recessive form of congenital amegakaryocytic thrombocytopenia, a hematologic disorder characterized by severe reduction of megakaryocytes and platelets at birth, and evolving into generalized bone marrow aplasia during childhood. ","keywords":null},{"identifier":"Amegakaryocytic thrombocytopenia, congenital, 2.","acronym":"CAMT2.","accession":"DI-06746","synonyms":null,"cross_references":"MeSH; D013921.","definition":"A form of congenital amegakaryocytic thrombocytopenia, a hematologic disorder characterized by severe reduction of megakaryocytes and platelets at birth, and evolving into generalized bone marrow aplasia during childhood. CAMT2 is an autosomal recessive form. Most patients present with thrombocytopenia that progresses to pancytopenia. ","keywords":null},{"identifier":"Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome.","acronym":"PAPPAS.","accession":"DI-05747","synonyms":null,"cross_references":"MeSH; D004480.","definition":"An autosomal recessive, lethal embryonic syndrome characterized by absent hindlimbs, pulmonary hypoplasia, severely hypoplastic or absent pelvic bones, hypoplasia of the sacrum, and ambiguous genitalia. ","keywords":null},{"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 1B.","acronym":"AI1B.","accession":"DI-00089","synonyms":"AIH2.; Amelogenesis imperfecta hypoplastic 2.; Amelogenesis imperfecta hypoplastic local autosomal dominant.; Amelogenesis imperfecta type IB.; Hereditary localized enamel hypoplasia.; ","cross_references":"MeSH; D000567.","definition":"An autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and widely spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI). ","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 1E.","acronym":"AI1E.","accession":"DI-00088","synonyms":"AIH1.; Amelogenesis imperfecta, hypomaturation type, with snow-capped teeth.; Amelogenesis imperfecta, hypoplastic/hypomaturation type 1E.; Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1.; Amelogenesis imperfecta type IE.; Enamel hypoplasia, X-linked 1.; Enamel hypoplasia X-linked.; XAI.; X-linked amelogenesis imperfecta.; ","cross_references":"MeSH; D000567.","definition":"An X-linked defect of dental enamel formation. Teeth have only a thin layer of enamel with normal hardness. The thinness of the enamel makes the teeth appear small. ","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 1G.","acronym":"AI1G.","accession":"DI-04208","synonyms":"AIGFS.; Amelogenesis imperfecta and gingival fibromatosis syndrome.; Enamel-renal-gingival syndrome.; Enamel-renal syndrome.; ERS.; Hypoplastic amelogenesis imperfecta with nephrocalcinosis.; ","cross_references":"MeSH; D005351.","definition":"A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth. ","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 1J.","acronym":"AI1J.","accession":"DI-04931","synonyms":null,"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. AI1J is an autosomal recessive form characterized by hypoplastic enamel, enamel discolorization ranging from yellow to black, and normal dentin. ","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 3A.","acronym":"AI3A.","accession":"DI-00093","synonyms":"ADHCAI.; Amelogenesis imperfecta hypocalcification type autosomal dominant.; Amelogenesis imperfecta hypomineralization type.; Amelogenesis imperfecta type III.; ","cross_references":"MeSH; D000567.","definition":"An autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3A is characterized by enamel of normal thickness but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption. ","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.; "}]}