{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4000&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3960&ordering=synonyms","results":[{"identifier":"Joubert syndrome 38.","acronym":"JBTS38.","accession":"DI-06194","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, renal disease, liver fibrosis, and polydactyly. JBTS38 inheritance is autosomal recessive. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Joubert syndrome 37.","acronym":"JBTS37.","accession":"DI-06049","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, renal disease, liver fibrosis, and polydactyly. JBTS37 inheritance is autosomal recessive. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Atrial fibrillation, familial, 8.","acronym":"ATFB8.","accession":"DI-06801","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 36.","acronym":"JBTS36.","accession":"DI-05752","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, renal disease, liver fibrosis, and polydactyly. JBTS36 inheritance is autosomal recessive. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Joubert syndrome 35.","acronym":"JBTS35.","accession":"DI-05361","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, renal disease, liver fibrosis, and polydactyly. JBTS35 inheritance is autosomal recessive. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Meier-Gorlin syndrome 6.","acronym":"MGORS6.","accession":"DI-04664","synonyms":null,"cross_references":"MeSH; D008844.","definition":"A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Joubert syndrome 34.","acronym":"JBTS34.","accession":"DI-05148","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, renal disease, liver fibrosis, and polydactyly. JBTS34 inheritance is autosomal recessive. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Joubert syndrome 33.","acronym":"JBTS33.","accession":"DI-05135","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, renal disease, liver fibrosis, and polydactyly. JBTS33 inheritance is autosomal recessive. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Deafness, sensorineural, mitochondrial.","acronym":"DFNM.","accession":"DI-02887","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness with maternal inheritance. Affected individuals manifest progressive, postlingual, sensorineural hearing loss involving high frequencies. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Leber congenital amaurosis 15.","acronym":"LCA15.","accession":"DI-03049","synonyms":null,"cross_references":"MeSH; D057130.","definition":"A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ","keywords":"KW-0901:Leber congenital amaurosis.; "},{"identifier":"Joubert syndrome 32.","acronym":"JBTS32.","accession":"DI-05134","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, renal disease, liver fibrosis, and polydactyly. JBTS32 inheritance is autosomal recessive. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Joubert syndrome 31.","acronym":"JBTS31.","accession":"DI-05136","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, renal disease, liver fibrosis, and polydactyly. JBTS31 inheritance is autosomal recessive. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Joubert syndrome 30.","acronym":"JBTS30.","accession":"DI-05051","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, renal disease, liver fibrosis, and polydactyly. JBTS30 inheritance is autosomal recessive. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Deafness, dystonia, and cerebral hypomyelination.","acronym":"DDCH.","accession":"DI-03930","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An X-linked recessive syndrome characterized by sensorineural deafness, intellectual disability, dysmorphic facial features, dystonia, pyramidal signs, almost no psychomotor development, and hypomyelination on brain imaging. ","keywords":"KW-0209:Deafness.; KW-0991:Intellectual disability.; KW-1023:Dystonia.; "},{"identifier":"Atrial fibrillation, familial, 7.","acronym":"ATFB7.","accession":"DI-00149","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 3.","acronym":"JBTS3.","accession":"DI-00606","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. Joubert syndrome type 3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Joubert syndrome 29.","acronym":"JBTS29.","accession":"DI-05036","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, renal disease, liver fibrosis, and polydactyly. JBTS29 inheritance is autosomal recessive. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Melorheostosis, isolated.","acronym":"MEL.","accession":"DI-01963","synonyms":null,"cross_references":"MeSH; D008557.","definition":"A sclerosing bone disorder characterized by hyperostosis of the cortex of tubular bones, frequently involving one limb. The lesions may be accompanied by abnormalities of adjacent soft tissue, joint contractures, sclerodermatous skin lesions, muscle atrophy, or hemangioma. ","keywords":null},{"identifier":"Joubert syndrome 28.","acronym":"JBTS28.","accession":"DI-04820","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, renal disease, liver fibrosis, and polydactyly. JBTS28 inheritance is autosomal recessive. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Joubert syndrome 27.","acronym":"JBTS27.","accession":"DI-04819","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, renal disease, liver fibrosis, and polydactyly. JBTS27 inheritance is autosomal recessive. ","keywords":"KW-0979:Joubert syndrome.; "}]}