{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6440&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6400&ordering=-synonyms","results":[{"identifier":"Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1.","acronym":"ALS-PDC1.","accession":"DI-02695","synonyms":"ALS/PDC of Guam.; Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam.; Guam disease.; ","cross_references":"MeSH; D020734.","definition":"A neurodegenerative disorder characterized by chronic, progressive and uniformly fatal amyotrophic lateral sclerosis and parkinsonism- dementia. Both diseases are known to occur in the same kindred, the same sibship and even the same individual. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; KW-0908:Parkinsonism.; "},{"identifier":"Leukoencephalopathy, hereditary diffuse, with spheroids 1.","acronym":"HDLS1.","accession":"DI-03392","synonyms":"ALSP.; Autosomal dominant leukoencephalopathy with neuroaxonal spheroids.; Familial dementia Neumann type.; Familial progressive subcortical gliosis.; GPSC.; HDLS.; Leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia.; Leukoencephalopathy, diffuse hereditary, with spheroids.; Subcortical gliosis of Neumann.; ","cross_references":"MeSH; D056784.","definition":"An autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Amyotrophic lateral sclerosis 2.","acronym":"ALS2.","accession":"DI-00109","synonyms":"ALSJ.; Amyotrophic lateral sclerosis juvenile.; Amyotrophic lateral sclerosis juvenile 2.; ","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":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 1.","acronym":"FTDALS1.","accession":"DI-03247","synonyms":"ALSFTD.; Amyotrophic lateral sclerosis and/or frontotemporal dementia.; Frontotemporal dementia and/or motor neuron disease.; FTDMND.; ","cross_references":"MeSH; D057174.","definition":"An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 7.","acronym":"FTDALS7.","accession":"DI-01633","synonyms":"ALS17.; Amyotrophic lateral sclerosis, CHMP2B-related.; Amyotrophic lateral sclerosis 17.; Frontotemporal dementia, chromosome 3-linked.; FTD3.; ","cross_references":"MeSH; D057174.","definition":"A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia (FTD) is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis (ALS) is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS7 is an autosomal dominant form characterized by onset of ALS or FTD in adulthood. A few patients may have both phenotypes. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 6.","acronym":"FTDALS6.","accession":"DI-03119","synonyms":"ALS14.; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia.; ","cross_references":"MeSH; D057174.","definition":"A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia (FTD) is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis (ALS) is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS6 is an autosomal dominant form characterized by onset of ALS or FTD in adulthood. Some patients with the disorder may have features of both diseases. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation.","acronym":"IDAIL.","accession":"DI-04302","synonyms":"ALPS5.; Autoimmune lymphoproliferative syndrome 5.; Autoimmune lymphoproliferative syndrome type V.; ","cross_references":"MeSH; D008232.","definition":"An autosomal dominant primary immunodeficiency characterized by severe autoimmunity, infiltration of non-lymphoid organs, such as the intestine, lungs and brain, by hyperactive T cells and B cells, autoimmune cytopenias, and hypogammaglobulinemia in early childhood. ","keywords":null},{"identifier":"RAS-associated autoimmune leukoproliferative disorder.","acronym":"RALD.","accession":"DI-03381","synonyms":"ALPS4.; Autoimmune lymphoproliferative syndrome, type IV.; Autoimmune lymphoproliferative syndrome 4.; ","cross_references":"MeSH; D056735.","definition":"A disorder of apoptosis, characterized by chronic accumulation of non- malignant lymphocytes, defective lymphocyte apoptosis, and an increased risk for the development of hematologic malignancies. ","keywords":null},{"identifier":"Autoimmune lymphoproliferative syndrome 2A.","acronym":"ALPS2A.","accession":"DI-00157","synonyms":"ALPS2.; Autoimmune lymphoproliferative syndrome, type II.; Autoimmune lymphoproliferative syndrome type IIA.; ","cross_references":"MeSH; D056735.","definition":"A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia. ","keywords":null},{"identifier":"Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss.","acronym":"MATINS.","accession":"DI-01951","synonyms":"Alport syndrome, with macrothrombocytopenia.; BDPLT6.; Bleeding disorder platelet-type 6.; Dohle leukocyte inclusions with giant platelets.; Epstein syndrome.; EPSTNS.; Fechtner syndrome.; FTNS.; Giant platelet syndrome with thrombocytopenia.; Macrothrombocytopathy, nephritis, and deafness.; Macrothrombocytopathy-nephritis-deafness.; Macrothrombocytopenia and progressive sensorineural deafness.; Macrothrombocytopenia with leukocyte inclusions.; May-Hegglin anomaly.; MHA.; MPSD.; SBS.; Sebastian platelet syndrome.; Sebastian syndrome.; ","cross_references":"MeSH; D013921.","definition":"An autosomal dominant disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes with variable ultrastructural appearance. Some affected individuals lack leukocyte inclusion bodies on classic staining of peripheral blood smears. Alport syndrome-like features of nephritis, hearing loss, and eye abnormalities are present in some patients. ","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":"Hemoglobin H disease.","acronym":"HBH.","accession":"DI-03202","synonyms":"Alpha-thalassemia hemoglobin H type.; Hemoglobin H disease deletional.; Hemoglobin H disease non-deletional.; ","cross_references":"MeSH; D017085.","definition":"A form of alpha-thalassemia due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence. ","keywords":null},{"identifier":"3-ketothiolase deficiency.","acronym":"3KTD.","accession":"DI-00009","synonyms":"Alpha-methylacetoaceticaciduria.; ","cross_references":"MeSH; D000592.","definition":"An autosomal recessive inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2- methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype. ","keywords":null},{"identifier":"Mannosidosis, alpha B, lysosomal.","acronym":"MANSA.","accession":"DI-01921","synonyms":"Alpha-mannosidase B deficiency.; Alpha-mannosidosis.; Alpha-mannosidosis types I and II.; Lysosomal alpha-D-mannosidase deficiency.; ","cross_references":"MeSH; D008363.","definition":"A lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with intellectual disability, recurrent infections, impaired hearing and Hurler-like skeletal changes being the most consistent abnormalities. ","keywords":null},{"identifier":"Mucopolysaccharidosis 1S.","acronym":"MPS1S.","accession":"DI-00772","synonyms":"Alpha-L-iduronidase deficiency.; MPS IS.; MPS-IS.; MPS V.; Mucopolysaccharidosis type IS.; Mucopolysaccharidosis type V.; Scheie syndrome.; ","cross_references":"MeSH; D008059.","definition":"A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Mucopolysaccharidosis 1H.","acronym":"MPS1H.","accession":"DI-00770","synonyms":"Alpha-L-iduronidase deficiency.; Hurler's syndrome.; Hurler syndrome.; MPS IH.; MPS-IH.; Mucopolysaccharidosis type IH.; ","cross_references":"MeSH; D008059.","definition":"A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Mucopolysaccharidosis 1H/S.","acronym":"MPS1H/S.","accession":"DI-00771","synonyms":"Alpha-L-iduronidase deficiency.; Hurler-Scheie syndrome.; MPS-IH/S.; Mucopolysaccharidosis type IH/S.; ","cross_references":"MeSH; D008059.","definition":"A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Fucosidosis.","acronym":"FUCA1D.","accession":"DI-00501","synonyms":"Alpha-L-fucosidase deficiency.; ","cross_references":"MeSH; D005645.","definition":"An autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas. ","keywords":null},{"identifier":"Fish-eye disease.","acronym":"FED.","accession":"DI-00500","synonyms":"Alpha-LCAT deficiency.; Dyslipoproteinemic corneal dystrophy.; ","cross_references":"MeSH; D007863.","definition":"A disorder of lipoprotein metabolism due to partial lecithin- cholesterol acyltransferase deficiency that affects only alpha-LCAT activity. FED is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea ('fish- eye'). ","keywords":null},{"identifier":"Mahvash disease.","acronym":"MVAH.","accession":"DI-06086","synonyms":"Alpha-cell hyperplasia with glucagonemia.; ","cross_references":"MeSH; D010182.","definition":"An autosomal recessive disorder characterized by alpha-cell hyperplasia of the pancreas, hyperglucagonemia without glucagonoma syndrome, aminoacidemia, and occasional hypoglycemia. The disease may lead to glucagonomas and/or primitive neuroectodermal tumors. ","keywords":null}]}