{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=980&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=940&ordering=synonyms","results":[{"identifier":"Spinocerebellar ataxia 27A.","acronym":"SCA27A.","accession":"DI-01080","synonyms":"Cerebellar ataxia, autosomal dominant, FGF14-related.; NYS4.; Nystagmus 4, congenital, autosomal dominant.; SCA27.; Spinocerebellar ataxia 27.; Vestibulocerebellar disorder with predominant ocular signs.; ","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. SCA27A is an autosomal dominant, slowly progressive form characterized by gait disturbances, ataxia with tremor, dysarthria, orofacial dyskinesia, gaze-evoked nystagmus, and learning disabilities. There is significant variability, and patients show various combinations of neurologic features. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Cerebral amyloid angiopathy, ITM2B-related 2.","acronym":"CAA-ITM2B2.","accession":"DI-02617","synonyms":"Cerebellar ataxia cataract deafness and dementia or psychosis.; Familial Danish dementia.; FDD.; Heredopathia ophthalmootoencephalica.; HOOE.; ","cross_references":"MeSH; D028243.","definition":"A disorder characterized by amyloid deposition in the walls of the blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord and retina. Plaques and neurofibrillary tangles are observed in the hippocampus. Clinical features include progressive ataxia, dementia, cataracts and deafness. ","keywords":"KW-1008:Amyloidosis.; "},{"identifier":"Gerstmann-Straussler disease.","acronym":"GSD.","accession":"DI-01656","synonyms":"Cerebellar ataxia, progressive dementia, and amyloid deposits in CNS.; Cerebral amyloidosis with spongiform encephalopathy.; Gerstmann-Straussler-Scheinker disease.; GSS.; Prion dementia.; Subacute spongiform encephalopathy Gerstmann-Straussler type.; ","cross_references":"MeSH; D016098.","definition":"A rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. GSD presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years. ","keywords":"KW-1008:Amyloidosis.; "},{"identifier":"Pontocerebellar hypoplasia 3.","acronym":"PCH3.","accession":"DI-04470","synonyms":"Cerebellar atrophy with progressive microcephaly.; CLAM.; PCH with optic atrophy.; ","cross_references":"MeSH; D002526.","definition":"A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. PCH3 features include seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia 2.","acronym":"SCA2.","accession":"DI-01067","synonyms":"Cerebellar degeneration with slow eye movements.; Olivopontocerebellar atrophy Holguin type.; Olivopontocerebellar atrophy II.; OPCA2.; OPCA II.; SDSEM.; Spinocerebellar ataxia Cuban type.; Spinocerebellar atrophy II.; Spinocerebellar degeneration with slow eye movements.; Wadia-Swami syndrome.; ","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 cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is characterized by hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. In some patients, SCA2 presents as pure familial parkinsonism without cerebellar signs. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Cerebellofaciodental syndrome.","acronym":"CFDS.","accession":"DI-04315","synonyms":"Cerebellar-facial-dental syndrome.; ","cross_references":"MeSH; D019066.","definition":"An autosomal recessive disorder characterized by cerebellar hypoplasia, delayed development and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Lhermitte-Duclos disease.","acronym":"LDD.","accession":"DI-01903","synonyms":"Cerebellar granule cell hypertrophy and megalencephaly.; Cerebelloparenchymal disorder VI.; CPD6.; Dysplastic gangliocytoma of the cerebellum.; PHTS.; PTEN hamartoma tumor syndrome.; ","cross_references":"MeSH; D006223.","definition":"A rare disease characterized by the occurrence of a slowly enlarging mass within the cerebellar cortex corresponding histologically to a cerebellar hamartoma. It manifests, most commonly in the third and fourth decades of life, with increased intracranial pressure, headache, nausea, cerebellar dysfunction, occlusive hydrocephalus, ataxia, visual disturbances and other cranial nerve palsies. Various associated abnormalities may be present such as megalencephaly, microgyria, hydromyelia, polydactyly, partial gigantism, macroglossia. LDD is part of the PTEN hamartoma tumor syndromes spectrum that also includes Cowden syndrome. ","keywords":null},{"identifier":"CIMDAG syndrome.","acronym":"CIMDAG.","accession":"DI-06081","synonyms":"Cerebellar hypoplasia, cataracts, impaired intellectual development, congenital microcephaly, dystonia, dyserythropoietic anemia, and growth retardation.; ","cross_references":"MeSH; D065886.","definition":"An autosomal dominant syndrome characterized by global developmental delay, severely impaired intellectual development, poor or absent speech, microcephaly, growth retardation, poor motor skills with inability to walk, hypotonia and spasticity, and cataracts. Cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination are apparent on brain imaging. Affected individuals show hematologic abnormalities mostly consistent with congenital dyserythropoietic anemia. ","keywords":"KW-0898:Cataract.; KW-0991:Intellectual disability.; KW-1055:Congenital dyserythropoietic anemia.; "},{"identifier":"Spinocerebellar ataxia, autosomal recessive, 2.","acronym":"SCAR2.","accession":"DI-04657","synonyms":"Cerebellar hypoplasia, non-progressive Norman type.; Cerebelloparenchymal disorder III.; CPD3.; CPD III.; ","cross_references":"MeSH; D013132.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR2 is characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability. ","keywords":"KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; "},{"identifier":"Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1.","acronym":"CAMRQ1.","accession":"DI-02742","synonyms":"Cerebellar hypoplasia VLDLR-associated.; DES.; Dysequilibrium syndrome.; ","cross_references":"MeSH; D008607.","definition":"An autosomal recessive, congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, intellectual disability, cerebellar hypoplasia and mild cerebral gyral simplification. Additional features include short stature, strabismus, pes planus and, rarely, seizures. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Hoyeraal-Hreidarsson syndrome.","acronym":"HHS.","accession":"DI-00572","synonyms":"Cerebellar hypoplasia with pancytopenia.; Prenatal growth retardation with progressive pancytopenia and cerebellar hypoplasia.; ","cross_references":"MeSH; D019871.","definition":"A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency. ","keywords":"KW-1011:Dyskeratosis congenita.; "},{"identifier":"COACH syndrome 1.","acronym":"COACH1.","accession":"DI-02835","synonyms":"Cerebellar vermis hypo/aplasia oligophrenia congenital ataxia ocular coloboma and hepatic fibrosis.; COACH syndrome.; Joubert syndrome with congenital hepatic fibrosis.; ","cross_references":"MeSH; D008107.","definition":"A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH1 inheritance is autosomal recessive. ","keywords":"KW-0979:Joubert syndrome.; KW-1186:Ciliopathy.; "},{"identifier":"Joubert syndrome 1.","acronym":"JBTS1.","accession":"DI-02532","synonyms":"Cerebellooculorenal syndrome 1.; Cerebello-oculo-renal syndrome 1.; Cerebelloparenchymal disorder IV.; CORS1.; CPD4.; JBTS.; Joubert-Boltshauser syndrome.; joubert syndrome.; ","cross_references":"MeSH; D052177.","definition":"A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Joubert syndrome 2.","acronym":"JBTS2.","accession":"DI-02621","synonyms":"Cerebellooculorenal syndrome 2.; Cerebello-oculo-renal syndrome 2.; CORS2.; ","cross_references":"MeSH; D052177.","definition":"A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Joubert syndrome 7.","acronym":"JBTS7.","accession":"DI-00610","synonyms":"Cerebello-oculo-renal syndrome 3.; CORS3.; ","cross_references":"MeSH; D052177.","definition":"A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Spinocerebellar ataxia 1.","acronym":"SCA1.","accession":"DI-01066","synonyms":"Cerebelloparenchymal disorder I.; CPD1.; Menzel type OPCA.; Olivopontocerebellar atrophy I.; Olivopontocerebellar atrophy IV.; OPCA1.; OPCA4.; OPCA I.; OPCA IV.; Schut-Haymaker type OPCA.; ","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 cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Cerebral amyloid angiopathy, ITM2B-related 1.","acronym":"CAA-ITM2B1.","accession":"DI-02619","synonyms":"Cerebral amyloid angiopathy British type.; Familial British dementia.; FBD.; Presenile dementia with spastic ataxia.; ","cross_references":"MeSH; D028243.","definition":"A disorder characterized by amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in the central nervous system. Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tangles are the predominant pathological lesions. Clinical features include progressive mental deterioration, spasticity and muscular rigidity. ","keywords":"KW-1008:Amyloidosis.; "},{"identifier":"Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2.","acronym":"CADASIL2.","accession":"DI-04641","synonyms":"Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2.; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant, 2.; ","cross_references":"MeSH; D046589.","definition":"A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke. ","keywords":null},{"identifier":"Cerebrotendinous xanthomatosis.","acronym":"CTX.","accession":"DI-01335","synonyms":"Cerebral cholesterinosis.; ","cross_references":"MeSH; D019294.","definition":"Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts. ","keywords":null},{"identifier":"Sotos syndrome.","acronym":"SOTOS.","accession":"DI-02318","synonyms":"Cerebral gigantism.; Chromosome 5q35 deletion syndrome.; SOTOS1.; Sotos syndrome 1.; ","cross_references":"MeSH; D058495.","definition":"An autosomal dominant, childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, intellectual disability, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism. ","keywords":null}]}