{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1960&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1920&ordering=-identifier","results":[{"identifier":"Neurodevelopmental disorder with seizures and brain abnormalities.","acronym":"NEDSBA.","accession":"DI-06220","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life, and structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.","acronym":"NEDAMSS.","accession":"DI-05310","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by global developmental delay or neurodevelopmental regression, hypotonia, progressive ataxia, intellectual disability, seizures, and abnormal movements. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities.","acronym":"NEDSWMA.","accession":"DI-05922","synonyms":"Cerebral palsy, spastic quadriplegic, 1.; CPSQ1.; ","cross_references":"MeSH; D065886.","definition":"An autosomal recessive neurodevelopmental disorder characterized by developmental delay manifesting in infancy, inability to walk independently, mild to severe intellectual disability, poor overall growth, progressive microcephaly, and axial hypotonia. Additional variable features include brainstem and cerebellar involvement, seizures, joint contractures, ocular disturbances, episodic respiratory failure, and facial dysmorphism. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with progressive movement abnormalities.","acronym":"NEDPM.","accession":"DI-06884","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive, progressive disorder characterized by global developmental delay, intellectual disability, significant expressive language impairment, behavioral abnormalities, and movement disorders including dystonia, spasticity and cerebellar ataxia associated with gait impairment. Additional features include facial dysmorphism, oculomotor anomalies, microcephaly, seizures and brain imaging abnormalities. Parkinsonism may develop in older patients. ","keywords":"KW-0908:Parkinsonism.; KW-0991:Intellectual disability.; KW-1023:Dystonia.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities.","acronym":"NEDMISBA.","accession":"DI-04491","synonyms":"MCPH15.; Microcephaly 15, primary, autosomal recessive.; ","cross_references":"MeSH; D008831.","definition":"An autosomal recessive disorder characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death. ","keywords":"KW-0905:Primary microcephaly.; "},{"identifier":"Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.","acronym":"NDMSBA.","accession":"DI-05021","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, spastic quadriparesis, global developmental delay, profound intellectual disability and severely impaired or absent motor function. More variable features include seizures and optic atrophy. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with poor language and loss of hand skills.","acronym":"NDPLHS.","accession":"DI-05213","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by psychomotor developmental stagnation or regression. NDPLHS manifest in the first years of life as loss of purposeful hand movements, loss of language, and intellectual disability. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies.","acronym":"NEDGEF.","accession":"DI-06587","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay, brain malformation, microcephaly, growth deficiency, and distinct facial dysmorphism. Disease severity is variable and death in infancy may occur. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with poor growth and skeletal anomalies.","acronym":"NEDGS.","accession":"DI-06426","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals present with progressive microcephaly, hypotonia, delayed walking, poor or absent speech, intellectual disability, and variable skeletal anomalies. Variable features include seizures, non- specific dysmorphic facial features, oculomotor apraxia, and non- specific brain imaging abnormalities. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with poor growth and behavioral abnormalities.","acronym":"NEDGBA.","accession":"DI-06608","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, absent speech, and behavioral abnormalities, including hyperactivity and attention deficit disorder. Affected individuals show failure to thrive with poor overall growth, and some have microcephaly. Additional features may include non-specific facial dysmorphism, hypotonia, and feeding difficulties. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with or without variable movement or behavioral abnormalities.","acronym":"NEDMAB.","accession":"DI-06324","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by motor and language developmental delay, intellectual disability often associated with early-onset movement disorders comprising cerebellar ataxia and/or extrapyramidal symptoms. Other variable features include autism spectrum disorder or autistic features and epilepsy. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with or without variable brain abnormalities.","acronym":"NEDBA.","accession":"DI-05574","synonyms":null,"cross_references":"MeSH; D065886.","definition":"A disorder characterized by global developmental delay, impaired intellectual development, delayed walking, poor or absent speech, and variable brain anomalies including perisylvian polymicrogyria, cerebral or cerebellar atrophy, and hypoplasia of the corpus callosum. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with or without seizures and gait abnormalities.","acronym":"NEDSGA.","accession":"DI-05189","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent from infancy or early childhood, mild to profound intellectual disability, hypertonia early in life, which progresses to spasticity and impaired gait later, and behavioral abnormalities. Some patients may develop seizures of variable severity early in life. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy.","acronym":"NEDHSCA.","accession":"DI-04693","synonyms":"Glycosylphosphatidylinositol biosynthesis defect 13.; GPIBD13.; Intellectual developmental disorder, autosomal recessive 53.; MRT53.; ","cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by delayed psychomotor development, hypotonia, and early-onset seizures in most patients. Additional variable features are cerebellar atrophy, ataxia, and non- specific dysmorphic features. Some patients may have the Emm-null blood group phenotype. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.","acronym":"NDHMSR.","accession":"DI-05175","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive neurodevelopmental disorder characterized by severe intellectual disability and psychomotor developmental delay, involuntary and stereotypic movements, spasticity, and inability to walk without support. Intractable seizures manifest in some patients. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.","acronym":"NDHMSD.","accession":"DI-05176","synonyms":"MRD8.; ","cross_references":"MeSH; D008607.","definition":"An autosomal dominant neurodevelopmental disorder characterized by severe intellectual disability and developmental delay, absent speech, muscular hypotonia, dyskinesia, and hyperkinetic movements. Cortical blindness, cerebral atrophy, and seizures are present in some patients. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with or without early-onset generalized epilepsy.","acronym":"NEDEGE.","accession":"DI-06010","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development, speech delay, and behavioral abnormalities including autism or autistic features, attention deficits and hyperactivity, or aggressive behavior. About half of patients develop early-onset generalized epilepsy with different seizure types. The disease is apparent from infancy or early childhood. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities.","acronym":"NEDASB.","accession":"DI-05826","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An early-onset neurodevelopmental disorder characterized by intellectual disability, motor and speech delay, autistic features, hypotonia, feeding difficulties, spasticity or ataxic gait, and structural brain abnormalities including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum. ","keywords":"KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Neurodevelopmental disorder with or without autism or seizures.","acronym":"NEDAUS.","accession":"DI-06062","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder manifesting in infancy and characterized by global developmental delay, variably impaired intellectual development, and speech delay. Some patients have seizures, others have autistic features or behavioral abnormalities. Additional variable features include cardiac defects, failure to thrive, or brain imaging anomalies. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart.","acronym":"NEDBEH.","accession":"DI-04746","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant syndrome characterized by developmental delay, intellectual disability, brain anomalies, and neurological abnormalities including seizures, hypotonia, and behavioral problems such as autism spectrum disorders. Brain anomalies include abnormalities and/or thinning of the corpus callosum, diminished white matter volume, abnormal cerebellar vermis, and ventriculomegaly. Congenital defects of the eye, heart and genitourinary system are present in half of the patients. ","keywords":"KW-0991:Intellectual disability.; "}]}