{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4040&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4000&ordering=synonyms","results":[{"identifier":"Joubert syndrome 22.","acronym":"JBTS22.","accession":"DI-04020","synonyms":null,"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, renal disease, liver fibrosis, and polydactyly. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Deafness, cataract, impaired intellectual development, and polyneuropathy.","acronym":"DCIDP.","accession":"DI-06133","synonyms":null,"cross_references":"MeSH; D009422.","definition":"An autosomal recessive disease characterized by early onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area. ","keywords":"KW-0209:Deafness.; KW-0622:Neuropathy.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "},{"identifier":"Joubert syndrome 21.","acronym":"JBTS21.","accession":"DI-04019","synonyms":null,"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, renal disease, liver fibrosis, and polydactyly. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Joubert syndrome 20.","acronym":"JBTS20.","accession":"DI-03599","synonyms":null,"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":"Deafness, autosomal recessive, 99.","acronym":"DFNB99.","accession":"DI-05585","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by prelingual, bilateral, severe-to-profound sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Joubert syndrome 19.","acronym":"JBTS19.","accession":"DI-03548","synonyms":null,"cross_references":"MeSH; D052177.","definition":"A form of Joubert syndrome, 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). JBTS19 patients have polycystic kidney disease, Leber congenital amaurosis, cerebellar vermis hypoplasia, and breathing abnormality. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Joubert syndrome 18.","acronym":"JBTS18.","accession":"DI-03515","synonyms":null,"cross_references":"MeSH; D052177.","definition":"A form of Joubert syndrome, 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. JBTS18 patients have vermis agenesis and the molar tooth sign as well as severe kyphoscoliosis. Other features include intrauterine growth retardation, oral anomalies, micrognathism, polydactyly and camptodactyly, joint laxity, horseshoe kidney, and ventricular septal defect. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Joubert syndrome 17.","acronym":"JBTS17.","accession":"DI-03439","synonyms":null,"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":"Deafness, autosomal recessive, 98.","acronym":"DFNB98.","accession":"DI-03535","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 97.","acronym":"DFNB97.","accession":"DI-04599","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Atrial fibrillation, familial, 6.","acronym":"ATFB6.","accession":"DI-00148","synonyms":null,"cross_references":"MeSH; D001281.","definition":"A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ","keywords":"KW-1020:Atrial fibrillation.; "},{"identifier":"Atrial fibrillation, familial, 4.","acronym":"ATFB4.","accession":"DI-00147","synonyms":null,"cross_references":"MeSH; D001281.","definition":"A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ","keywords":"KW-1020:Atrial fibrillation.; "},{"identifier":"Joubert syndrome 16.","acronym":"JBTS16.","accession":"DI-03315","synonyms":null,"cross_references":"MeSH; D052177.","definition":"An autosomal recessive disorder characterized by oculomotor apraxia, variable coloboma, and rare kidney involvement. Neuroradiologically, it is characterized by 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 polydactyly. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Joubert syndrome 15.","acronym":"JBTS15.","accession":"DI-03314","synonyms":null,"cross_references":"MeSH; D052177.","definition":"An autosomal recessive 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, renal disease, liver fibrosis and polydactyly. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Joubert syndrome 14.","acronym":"JBTS14.","accession":"DI-03313","synonyms":null,"cross_references":"MeSH; D052177.","definition":"An autosomal recessive disorder characterized by severe intellectual disability, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. 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 renal disease, abnormal eye movements, and postaxial polydactyly. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"MHC class I deficiency 3.","acronym":"MHC1D3.","accession":"DI-06900","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by glomerulonephritis and markedly reduced cell surface expression of class I HLA antigens. Additional features are herpes zoster infection and polyps of the stomach and colon. ","keywords":null},{"identifier":"Joubert syndrome 13.","acronym":"JBTS13.","accession":"DI-03232","synonyms":null,"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":"Deafness, autosomal recessive, 94.","acronym":"DFNB94.","accession":"DI-05552","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic, sensorineural deafness characterized by prelingual, profound, bilateral hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Joubert syndrome 12.","acronym":"JBTS12.","accession":"DI-03219","synonyms":null,"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":"Knobloch syndrome 2.","acronym":"KNO2.","accession":"DI-06463","synonyms":null,"cross_references":"MeSH; D012163.","definition":"An autosomal dominant form of Knobloch syndrome characterized by high myopia, vitreoretinal degeneration, retinal detachment, occipital encephalocele or scalp lesions, and mild to severe psychomotor delay. ","keywords":null}]}