{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6220&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6180&ordering=synonyms","results":[{"identifier":"Spinocerebellar ataxia 44.","acronym":"SCA44.","accession":"DI-05091","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA44 is a slowly progressive, autosomal dominant form. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 45.","acronym":"SCA45.","accession":"DI-05143","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA45 is a slowly progressive, autosomal dominant form with onset in adulthood. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Respiratory papillomatosis, juvenile recurrent, congenital.","acronym":"JRRP.","accession":"DI-05784","synonyms":null,"cross_references":"MeSH; D030361.","definition":"An autosomal recessive disease characterized by recurrent growth of papillomas in the respiratory tract, and onset in early childhood. Papillomas are most commonly found in the larynx but may occur anywhere from the mouth to the bronchi. Children typically present within the first years of life with hoarseness or, in more severe cases, respiratory distress or stridor and airway obstruction. JRRP is associated with infection of the upper airway by human papillomaviruses of the alpha genus. The infection is thought to occur by vertical transmission at birth. ","keywords":null},{"identifier":"Spinocerebellar ataxia 47.","acronym":"SCA47.","accession":"DI-05237","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA47 is an autosomal dominant disease with a highly variable phenotype and incomplete penetrance. Clinical features include developmental disability, ataxia, and seizures. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 48.","acronym":"SCA48.","accession":"DI-05368","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA48 is an autosomal dominant neurodegenerative disease characterized by onset in mid- adulthood of progressive cognitive decline and gait ataxia, and vermian and hemispheric cerebellar atrophy. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 49.","acronym":"SCA49.","accession":"DI-06383","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA49 is an autosomal dominant, slowly progressive form characterized by ataxia, nystagmus, dysarthria, polyneuropathy, pyramidal signs, cerebellar atrophy and distinctive cerebral demyelination. Affected individuals present with horizontal and vertical gaze-evoked nystagmus and hyperreflexia as initial clinical signs. Age of disease onset ranges from the second to seventh decades, even within the same family. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 5.","acronym":"SCA5.","accession":"DI-01069","synonyms":null,"cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 50.","acronym":"SCA50.","accession":"DI-06566","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA50 is an autosomal dominant form characterized by cerebellar ataxia, oculomotor apraxia and other eye movement abnormalities, and cerebellar atrophy on brain imaging. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 6.","acronym":"SCA6.","accession":"DI-01070","synonyms":null,"cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Respiratory infections, recurrent, and failure to thrive with or without diarrhea.","acronym":"RIFTD.","accession":"DI-06600","synonyms":null,"cross_references":"MeSH; D012141.","definition":"An autosomal recessive disorder characterized by neonatal onset of recurrent pulmonary infections, coughing, wheezy episodes, interstitial lung disease, and bronchiectasis. Episodes of vomiting and chronic diarrhea result in failure to thrive. Results of sweat chloride and pancreatic elastase tests are normal. ","keywords":null},{"identifier":"Spinocerebellar ataxia 8.","acronym":"SCA8.","accession":"DI-01072","synonyms":null,"cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA8 is an autosomal dominant cerebellar ataxia (ADCA). It is caused by expansion of a CAG repeat in ATXN8, which is translated into a nearly pure polyglutamine protein which forms 1C2-positive inclusions in Purkinje cells and other neurons. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Renal-hepatic-pancreatic dysplasia 2.","acronym":"RHPD2.","accession":"DI-03891","synonyms":null,"cross_references":"MeSH; D000015.","definition":"A form of renal-hepatic-pancreatic dysplasia, a disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates. ","keywords":null},{"identifier":"Renal tubular dysgenesis.","acronym":"RTD.","accession":"DI-02257","synonyms":null,"cross_references":"MedGen; C2678367.","definition":"Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). ","keywords":null},{"identifier":"Spondyloperipheral dysplasia.","acronym":"SPD.","accession":"DI-02337","synonyms":null,"cross_references":"MedGen; C0796173.","definition":"SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly. ","keywords":null},{"identifier":"Spinocerebellar ataxia, autosomal recessive, 10.","acronym":"SCAR10.","accession":"DI-02959","synonyms":null,"cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR10 is characterized by onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, 11.","acronym":"SCAR11.","accession":"DI-03244","synonyms":null,"cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR11 is associated with psychomotor retardation. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, 12.","acronym":"SCAR12.","accession":"DI-04025","synonyms":null,"cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR12 is additionally characterized by onset of generalized seizures in infancy, and delayed psychomotor development with intellectual disability. Some patients may also show spasticity. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, 13.","acronym":"SCAR13.","accession":"DI-03542","synonyms":null,"cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR13 is characterized by delayed psychomotor development beginning in infancy. Affected individuals show mild to profound intellectual disability with poor or absent speech as well as gait and stance ataxia and hyperreflexia. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Renal tubular acidosis, distal, with normal red cell morphology.","acronym":"dRTA-NRC.","accession":"DI-03438","synonyms":null,"cross_references":"MeSH; D000141.","definition":"A disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. ","keywords":null},{"identifier":"Renal hypodysplasia/aplasia 4.","acronym":"RHDA4.","accession":"DI-06433","synonyms":null,"cross_references":"MeSH; D007674.","definition":"An autosomal recessive, severe congenital anomaly of the kidney and urinary tract characterized by bilateral renal agenesis, and severely reduced or absent amniotic fluid during pregnancy. Patients exhibit the Potter sequence, including flattened nose, ear anomalies, and receding chin. Some affected individuals have limb contractures and joint dislocations. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period. ","keywords":null}]}