rare_neuro_mri_curated/disease_summary.csv

disease_code,full_name,orphacode,alternative_names,prevalence,inheritance,category,affected_systems
walker_warburg_syndrome,Walker-Warburg Syndrome,ORPHA:899,"WWS, Cerebro-Oculo-Muscular Syndrome","1-9 / 1,000,000",Autosomal recessive,Congenital muscular dystrophy,"Nervous system, Eye, Muscle"
pachygyria_cerebellar_hypoplasia,Pachygyria with Cerebellar Hypoplasia,ORPHA:2524,Cerebellar hypoplasia-pachygyria syndrome,"<1 / 1,000,000",Unknown,Malformation of cortical development,Nervous system
moyamoya_disease,Moyamoya Disease with Intraventricular Hemorrhage,ORPHA:2573,"Moyamoya angiopathy, Spontaneous occlusion of circle of Willis","1-5 / 100,000",Multigenic/multifactorial,Cerebrovascular disease,Nervous system
hallervorden_spatz_disease,Hallervorden-Spatz Disease (Pantothenate Kinase-Associated Neurodegeneration),ORPHA:157850,"PKAN, Pantothenate kinase-associated neurodegeneration","1-2 / 1,000,000",Autosomal recessive,Neurodegeneration with brain iron accumulation,Nervous system
fukuyama_muscular_dystrophy,Fukuyama Muscular Dystrophy,ORPHA:272,"FCMD, Fukuyama congenital muscular dystrophy","1-5 / 100,000 (Japan), <1 / 1,000,000 (worldwide)",Autosomal recessive,Congenital muscular dystrophy,"Nervous system, Muscle"