| {"Phenotype": ["HP:0000722", "HP:0000750", "HP:0001319", "HP:0001350", "HP:0001530", "HP:0001558", "HP:0001612", "HP:0002033", "HP:0002577", "HP:0004324", "HP:0011951", "HP:0030748", "HP:0040217"], "RareDisease": ["CCRD:93", "OMIM:176270", "ORPHA:739"], "Department": "Pediatrics"} | |
| {"Phenotype": ["HP:0000028", "HP:0000670", "HP:0001262", "HP:0001618", "HP:0008947", "HP:0011968", "HP:0012420"], "RareDisease": ["CCRD:93", "OMIM:176270", "ORPHA:739"], "Department": "Pediatrics"} | |
| {"Phenotype": ["HP:0000218", "HP:0000277", "HP:0001319", "HP:0001511", "HP:0001788", "HP:0002033", "HP:0003648", "HP:0004396", "HP:0008689", "HP:0010490"], "RareDisease": ["CCRD:93", "OMIM:176270", "ORPHA:739"], "Department": "Pediatrics"} | |
| {"Phenotype": ["HP:0000722", "HP:0000750", "HP:0002033", "HP:0008897", "HP:0008947"], "RareDisease": ["CCRD:93", "OMIM:176270", "ORPHA:739"], "Department": "Pediatrics"} | |
| {"Phenotype": ["HP:0000054", "HP:0000545", "HP:0000646", "HP:0001298", "HP:0001350", "HP:0001513", "HP:0001558", "HP:0002090", "HP:0002170", "HP:0002591", "HP:0002637", "HP:0002901", "HP:0002912", "HP:0003019", "HP:0003215", "HP:0003571", "HP:0003648", "HP:0004886", "HP:0008689", "HP:0008897", "HP:0008947", "HP:0012071", "HP:0012389", "HP:0012420", "HP:0012768", "HP:0030260", "HP:0100502", "HP:0100507"], "RareDisease": ["CCRD:93", "OMIM:176270", "ORPHA:739"], "Department": "Pediatrics"} | |
| {"Phenotype": ["HP:0000790", "HP:0000952", "HP:0000988", "HP:0001394", "HP:0001541", "HP:0001987", "HP:0002908", "HP:0003073", "HP:0003155", "HP:0003236", "HP:0003270", "HP:0003573", "HP:0008151", "HP:0010741", "HP:0010837", "HP:0012086", "HP:0012217", "HP:0025155", "HP:0030144", "HP:0031956", "HP:0031964", "HP:0200032"], "RareDisease": ["CCRD:37", "OMIM:277900", "ORPHA:905"], "Department": "Pediatrics"} | |
| {"Phenotype": ["HP:0000737", "HP:0000751", "HP:0001337", "HP:0002018", "HP:0002027", "HP:0002240", "HP:0002360", "HP:0004396", "HP:0010837", "HP:0010839", "HP:0031956", "HP:0031964", "HP:0100754", "HP:0200032"], "RareDisease": ["CCRD:37", "OMIM:277900", "ORPHA:905"], "Department": "Pediatrics"} | |
| {"Phenotype": ["HP:0000790", "HP:0001350", "HP:0001392", "HP:0002015", "HP:0002307", "HP:0002339", "HP:0002378", "HP:0004396", "HP:0010837", "HP:0010839", "HP:0200032"], "RareDisease": ["CCRD:37", "OMIM:277900", "ORPHA:905"], "Department": "Pediatrics"} | |
| {"Phenotype": ["HP:0001324", "HP:0001350", "HP:0001392", "HP:0001744", "HP:0002160", "HP:0002307", "HP:0002311", "HP:0002339", "HP:0002907", "HP:0003155", "HP:0003281", "HP:0004305", "HP:0004324", "HP:0004341", "HP:0010837", "HP:0010839", "HP:0030237", "HP:0200032", "HP:0430023"], "RareDisease": ["CCRD:37", "OMIM:277900", "ORPHA:905"], "Department": "Pediatrics"} | |
| {"Phenotype": ["HP:0000093", "HP:0001350", "HP:0002307", "HP:0002378", "HP:0010837", "HP:0010839", "HP:0030237"], "RareDisease": ["CCRD:37", "OMIM:277900", "ORPHA:905"], "Department": "Pediatrics"} | |
| {"Phenotype": ["HP:0000142", "HP:0000277", "HP:0000365", "HP:0000509", "HP:0000769", "HP:0000957", "HP:0000988", "HP:0001288", "HP:0002653", "HP:0003084", "HP:0003155", "HP:0003367", "HP:0005605", "HP:0005616", "HP:0010465", "HP:0010734", "HP:0025134", "HP:0030341", "HP:0030344", "HP:0030766", "HP:0030838", "HP:0040261", "HP:0100608"], "RareDisease": ["CCRD:69", "ORPHA:562", "OMIM:174800"], "Department": "Pediatrics"} | |
| {"Phenotype": ["HP:0000138", "HP:0000142", "HP:0000769", "HP:0000957", "HP:0005616", "HP:0010314", "HP:0010735", "HP:0010736", "HP:0012531", "HP:0025134", "HP:0030341", "HP:0030344", "HP:0030812", "HP:0040261", "HP:0100608", "HP:0100878"], "RareDisease": ["CCRD:69", "ORPHA:562", "OMIM:174800"], "Department": "Pediatrics"} | |
| {"Phenotype": ["HP:0000845", "HP:0000870", "HP:0000957", "HP:0001061", "HP:0002683", "HP:0003155", "HP:0005616", "HP:0010734", "HP:0012411", "HP:0030088", "HP:0045058", "HP:0100039"], "RareDisease": ["CCRD:69", "ORPHA:562", "OMIM:174800"], "Department": "Pediatrics"} | |
| {"Phenotype": ["HP:0000539", "HP:0000572", "HP:0000957", "HP:0004437", "HP:0005605", "HP:0010735", "HP:0011217"], "RareDisease": ["CCRD:69", "ORPHA:562", "OMIM:174800"], "Department": "Pediatrics"} | |
| {"Phenotype": ["HP:0000142", "HP:0000750", "HP:0000769", "HP:0000957", "HP:0003155", "HP:0005605", "HP:0011788", "HP:0012411", "HP:0025134", "HP:0031098", "HP:0031216", "HP:0100608", "HP:0100738"], "RareDisease": ["CCRD:69", "ORPHA:562", "OMIM:174800"], "Department": "Pediatrics"} | |
| {"Phenotype": ["HP:0000023", "HP:0000822", "HP:0001609", "HP:0001640", "HP:0001646", "HP:0001653", "HP:0001659", "HP:0001711", "HP:0001945", "HP:0001962", "HP:0002094", "HP:0002105", "HP:0002110", "HP:0004325", "HP:0004970", "HP:0005162", "HP:0031138", "HP:0031245"], "RareDisease": ["ORPHA:284979", "OMIM:154700", "ORPHA:558", "CCRD:68"], "Department": "Cardiology"} | |
| {"Phenotype": ["HP:0002751"], "RareDisease": ["ORPHA:284979", "OMIM:154700", "ORPHA:558", "CCRD:68"], "Department": "Cardiology"} | |
| {"Phenotype": ["HP:0000098", "HP:0001634", "HP:0001639", "HP:0001646", "HP:0001653", "HP:0001659", "HP:0001704", "HP:0001712", "HP:0002094", "HP:0002616", "HP:0002751", "HP:0002789", "HP:0003418", "HP:0003546", "HP:0005180", "HP:0030148", "HP:0100749"], "RareDisease": ["ORPHA:284979", "OMIM:154700", "ORPHA:558", "CCRD:68"], "Department": "Cardiology"} | |
| {"Phenotype": ["HP:0001132", "HP:0002650", "HP:0003419", "HP:0011003", "HP:0012019"], "RareDisease": ["ORPHA:284979", "OMIM:154700", "ORPHA:558", "CCRD:68"], "Department": "Cardiology"} | |
| {"Phenotype": ["HP:0001640", "HP:0002094", "HP:0003270", "HP:0003546", "HP:0004396", "HP:0012819", "HP:0031185"], "RareDisease": ["ORPHA:284979", "OMIM:154700", "ORPHA:558", "CCRD:68"], "Department": "Cardiology"} | |
| {"Phenotype": ["HP:0000131", "HP:0001279", "HP:0001324", "HP:0001640", "HP:0001644", "HP:0001702", "HP:0001708", "HP:0001824", "HP:0001962", "HP:0002018", "HP:0002875", "HP:0003077", "HP:0004396", "HP:0004751", "HP:0004890", "HP:0005133", "HP:0005162", "HP:0006671", "HP:0006673", "HP:0006682", "HP:0007185", "HP:0010741", "HP:0011037", "HP:0030718", "HP:0031185", "HP:0031246"], "RareDisease": ["OMIM:610193", "OMIM:611528", "OMIM:609040", "OMIM:607450", "OMIM:610476", "OMIM:601214", "OMIM:601419", "OMIM:600996", "OMIM:604400", "OMIM:107970", "OMIM:602087", "OMIM:602086", "OMIM:604401", "ORPHA:98909", "CCRD:52.2", "OMIM:615616"], "Department": "Cardiology"} | |
| {"Phenotype": ["HP:0001640", "HP:0001653", "HP:0001688", "HP:0001962", "HP:0002013", "HP:0002153", "HP:0002527", "HP:0003259", "HP:0004756", "HP:0005133", "HP:0005180", "HP:0006682", "HP:0007340", "HP:0010872", "HP:0011703", "HP:0011712", "HP:0012250", "HP:0012667", "HP:0025169"], "RareDisease": ["OMIM:610193", "OMIM:611528", "OMIM:609040", "OMIM:607450", "OMIM:610476", "OMIM:601214", "OMIM:601419", "OMIM:600996", "OMIM:604400", "OMIM:107970", "OMIM:602087", "OMIM:602086", "OMIM:604401", "ORPHA:98909", "CCRD:52.2", "OMIM:615616"], "Department": "Cardiology"} | |
| {"Phenotype": ["HP:0001279", "HP:0001407", "HP:0001541", "HP:0001633", "HP:0001640", "HP:0001641", "HP:0001646", "HP:0001649", "HP:0001653", "HP:0001698", "HP:0001702", "HP:0001708", "HP:0001709", "HP:0001711", "HP:0002202", "HP:0002360", "HP:0002572", "HP:0002908", "HP:0003073", "HP:0003236", "HP:0003473", "HP:0003546", "HP:0003573", "HP:0004324", "HP:0004396", "HP:0005180", "HP:0007185", "HP:0010438", "HP:0010741", "HP:0011037", "HP:0012667", "HP:0012764", "HP:0025168", "HP:0030718", "HP:0032232"], "RareDisease": ["OMIM:610193", "OMIM:611528", "OMIM:609040", "OMIM:607450", "OMIM:610476", "OMIM:601214", "OMIM:601419", "OMIM:600996", "OMIM:604400", "OMIM:107970", "OMIM:602087", "OMIM:602086", "OMIM:604401", "ORPHA:98909", "CCRD:52.2", "OMIM:615616"], "Department": "Cardiology"} | |
| {"Phenotype": ["HP:0000787", "HP:0000988", "HP:0001028", "HP:0001279", "HP:0001324", "HP:0001640", "HP:0001707", "HP:0001708", "HP:0001711", "HP:0001962", "HP:0001977", "HP:0002094", "HP:0002140", "HP:0004756", "HP:0004890", "HP:0005135", "HP:0005180", "HP:0006682", "HP:0007185", "HP:0011663", "HP:0011995", "HP:0012818", "HP:0012819", "HP:0025168", "HP:0025169", "HP:0100576"], "RareDisease": ["OMIM:610193", "OMIM:611528", "OMIM:609040", "OMIM:607450", "OMIM:610476", "OMIM:601214", "OMIM:601419", "OMIM:600996", "OMIM:604400", "OMIM:107970", "OMIM:602087", "OMIM:602086", "OMIM:604401", "ORPHA:98909", "CCRD:52.2", "OMIM:615616"], "Department": "Cardiology"} | |
| {"Phenotype": ["HP:0001663", "HP:0002090", "HP:0002094", "HP:0003546", "HP:0006562", "HP:0012251", "HP:0012735"], "RareDisease": ["OMIM:611777", "OMIM:601144", "OMIM:613119", "OMIM:612838", "OMIM:611876", "OMIM:613123", "OMIM:616399", "CCRD:14.3", "OMIM:613120", "OMIM:611875", "ORPHA:130"], "Department": "Cardiology"} | |
| {"Phenotype": ["HP:0000211", "HP:0000975", "HP:0001279", "HP:0002013", "HP:0007185", "HP:0011712", "HP:0012251"], "RareDisease": ["OMIM:611777", "OMIM:601144", "OMIM:613119", "OMIM:612838", "OMIM:611876", "OMIM:613123", "OMIM:616399", "CCRD:14.3", "OMIM:613120", "OMIM:611875", "ORPHA:130"], "Department": "Cardiology"} | |
| {"Phenotype": ["HP:0000019", "HP:0000020", "HP:0000024", "HP:0001279", "HP:0001324", "HP:0003236", "HP:0003546", "HP:0007185", "HP:0010741", "HP:0012251", "HP:0032232", "HP:0100518", "HP:0100576"], "RareDisease": ["OMIM:611777", "OMIM:601144", "OMIM:613119", "OMIM:612838", "OMIM:611876", "OMIM:613123", "OMIM:616399", "CCRD:14.3", "OMIM:613120", "OMIM:611875", "ORPHA:130"], "Department": "Cardiology"} | |
| {"Phenotype": ["HP:0001324", "HP:0001698", "HP:0001702", "HP:0001962", "HP:0002013", "HP:0002027", "HP:0002094", "HP:0003546", "HP:0004396", "HP:0004948", "HP:0005110", "HP:0005180", "HP:0010741", "HP:0011712", "HP:0012249", "HP:0025169", "HP:0030718", "HP:0031185", "HP:0031295", "HP:3000063"], "RareDisease": ["OMIM:115210", "CCRD:52.3", "OMIM:612422", "OMIM:615248", "OMIM:617047"], "Department": "Cardiology"} | |
| {"Phenotype": ["HP:0000019", "HP:0000787", "HP:0001639", "HP:0001698", "HP:0001712", "HP:0001977", "HP:0002090", "HP:0002092", "HP:0002094", "HP:0002900", "HP:0002908", "HP:0003546", "HP:0003573", "HP:0005110", "HP:0005133", "HP:0005135", "HP:0005144", "HP:0005180", "HP:0006682", "HP:0010741", "HP:0011712", "HP:0012664", "HP:0012667", "HP:0025168", "HP:0030718", "HP:0031138", "HP:0031245", "HP:0031295", "HP:0100518", "HP:0100749"], "RareDisease": ["OMIM:115210", "CCRD:52.3", "OMIM:612422", "OMIM:615248", "OMIM:617047"], "Department": "Cardiology"} | |
| {"Phenotype": ["HP:0001082", "HP:0001342", "HP:0001541", "HP:0001633", "HP:0001640", "HP:0001698", "HP:0001702", "HP:0001708", "HP:0001747", "HP:0002027", "HP:0002092", "HP:0002094", "HP:0002202", "HP:0002209", "HP:0002240", "HP:0002908", "HP:0003324", "HP:0003546", "HP:0003573", "HP:0004754", "HP:0004927", "HP:0005345", "HP:0006673", "HP:0010741", "HP:0011037", "HP:0012664", "HP:0025168", "HP:0030718", "HP:0031185", "HP:0031295"], "RareDisease": ["OMIM:115210", "CCRD:52.3", "OMIM:612422", "OMIM:615248", "OMIM:617047"], "Department": "Cardiology"} | |
| {"Phenotype": ["HP:0001028", "HP:0001258", "HP:0002355", "HP:0003445", "HP:0003487", "HP:0003698", "HP:0006135", "HP:0006801", "HP:0007340", "HP:0012651", "HP:0100711"], "RareDisease": ["OMIM:105400", "OMIM:617892", "OMIM:602099", "OMIM:205100", "OMIM:611895", "OMIM:614373", "OMIM:613954", "OMIM:614808", "ORPHA:357043", "OMIM:608627", "OMIM:617921", "ORPHA:300605", "OMIM:183090", "OMIM:612069", "OMIM:614696", "OMIM:616208", "OMIM:615426", "OMIM:602433", "OMIM:300857", "OMIM:608030", "OMIM:606070", "ORPHA:803", "OMIM:612577", "OMIM:613435", "CCRD:4", "OMIM:615515", "OMIM:617839", "OMIM:606640"], "Department": "Neurology"} | |
| {"Phenotype": ["HP:0001350", "HP:0002500", "HP:0002637", "HP:0002679", "HP:0003319", "HP:0003416", "HP:0003445", "HP:0003484", "HP:0005108", "HP:0012513", "HP:0012735", "HP:0030811"], "RareDisease": ["OMIM:105400", "OMIM:617892", "OMIM:602099", "OMIM:205100", "OMIM:611895", "OMIM:614373", "OMIM:613954", "OMIM:614808", "ORPHA:357043", "OMIM:608627", "OMIM:617921", "ORPHA:300605", "OMIM:183090", "OMIM:612069", "OMIM:614696", "OMIM:616208", "OMIM:615426", "OMIM:602433", "OMIM:300857", "OMIM:608030", "OMIM:606070", "ORPHA:803", "OMIM:612577", "OMIM:613435", "CCRD:4", "OMIM:615515", "OMIM:617839", "OMIM:606640"], "Department": "Neurology"} | |
| {"Phenotype": ["HP:0000822", "HP:0001259", "HP:0001260", "HP:0002019", "HP:0002062", "HP:0002064", "HP:0002355", "HP:0002360", "HP:0002425", "HP:0003484", "HP:0003487", "HP:0003546", "HP:0003551", "HP:0006801", "HP:0007340", "HP:0008969", "HP:0009129", "HP:0011448", "HP:0030902", "HP:0030906", "HP:0031993"], "RareDisease": ["OMIM:105400", "OMIM:617892", "OMIM:602099", "OMIM:205100", "OMIM:611895", "OMIM:614373", "OMIM:613954", "OMIM:614808", "ORPHA:357043", "OMIM:608627", "OMIM:617921", "ORPHA:300605", "OMIM:183090", "OMIM:612069", "OMIM:614696", "OMIM:616208", "OMIM:615426", "OMIM:602433", "OMIM:300857", "OMIM:608030", "OMIM:606070", "ORPHA:803", "OMIM:612577", "OMIM:613435", "CCRD:4", "OMIM:615515", "OMIM:617839", "OMIM:606640"], "Department": "Neurology"} | |
| {"Phenotype": ["HP:0001761", "HP:0001883", "HP:0001987", "HP:0002160", "HP:0003236", "HP:0003445", "HP:0004325", "HP:0005108", "HP:0006135", "HP:0007083", "HP:0007256", "HP:0008959", "HP:0008994", "HP:0008997", "HP:0009053", "HP:0009072", "HP:0009130", "HP:0012391", "HP:0100261", "HP:0100502"], "RareDisease": ["OMIM:105400", "OMIM:617892", "OMIM:602099", "OMIM:205100", "OMIM:611895", "OMIM:614373", "OMIM:613954", "OMIM:614808", "ORPHA:357043", "OMIM:608627", "OMIM:617921", "ORPHA:300605", "OMIM:183090", "OMIM:612069", "OMIM:614696", "OMIM:616208", "OMIM:615426", "OMIM:602433", "OMIM:300857", "OMIM:608030", "OMIM:606070", "ORPHA:803", "OMIM:612577", "OMIM:613435", "CCRD:4", "OMIM:615515", "OMIM:617839", "OMIM:606640"], "Department": "Neurology"} | |
| {"Phenotype": ["HP:0001367", "HP:0002355", "HP:0002492", "HP:0003445", "HP:0003484", "HP:0003808", "HP:0004188", "HP:0007010", "HP:0007181", "HP:0007340", "HP:0008991", "HP:0030237"], "RareDisease": ["OMIM:105400", "OMIM:617892", "OMIM:602099", "OMIM:205100", "OMIM:611895", "OMIM:614373", "OMIM:613954", "OMIM:614808", "ORPHA:357043", "OMIM:608627", "OMIM:617921", "ORPHA:300605", "OMIM:183090", "OMIM:612069", "OMIM:614696", "OMIM:616208", "OMIM:615426", "OMIM:602433", "OMIM:300857", "OMIM:608030", "OMIM:606070", "ORPHA:803", "OMIM:612577", "OMIM:613435", "CCRD:4", "OMIM:615515", "OMIM:617839", "OMIM:606640"], "Department": "Neurology"} | |
| {"Phenotype": ["HP:0001488", "HP:0003403", "HP:0003473", "HP:0003484", "HP:0003551", "HP:0003698", "HP:0030000", "HP:0030202", "HP:3000072"], "RareDisease": ["OMIM:254200", "CCRD:32", "ORPHA:589"], "Department": "Neurology"} | |
| {"Phenotype": ["HP:0000622", "HP:0000634", "HP:0000651", "HP:0000657", "HP:0001488", "HP:0002015", "HP:0002094", "HP:0003324", "HP:0003388", "HP:0003403", "HP:0003473", "HP:0003484", "HP:0004347", "HP:0005216", "HP:0007340", "HP:0007687", "HP:0030000"], "RareDisease": ["OMIM:254200", "CCRD:32", "ORPHA:589"], "Department": "Neurology"} | |
| {"Phenotype": ["HP:0000651", "HP:0001488", "HP:0002015", "HP:0002352", "HP:0002355", "HP:0002500", "HP:0002619", "HP:0002621", "HP:0003388", "HP:0003403", "HP:0003546", "HP:0005344", "HP:0007687", "HP:0030000", "HP:0030208"], "RareDisease": ["OMIM:254200", "CCRD:32", "ORPHA:589"], "Department": "Neurology"} | |
| {"Phenotype": ["HP:0000157", "HP:0000651", "HP:0000716", "HP:0000819", "HP:0000822", "HP:0001260", "HP:0001315", "HP:0001350", "HP:0001488", "HP:0002140", "HP:0002355", "HP:0002500", "HP:0003077", "HP:0003207", "HP:0003388", "HP:0003457", "HP:0003484", "HP:0005216", "HP:0007201", "HP:0007687", "HP:0030202", "HP:0030208", "HP:0430023"], "RareDisease": ["OMIM:254200", "CCRD:32", "ORPHA:589"], "Department": "Neurology"} | |
| {"Phenotype": ["HP:0000651", "HP:0000822", "HP:0000872", "HP:0001260", "HP:0001488", "HP:0001609", "HP:0001730", "HP:0002014", "HP:0002015", "HP:0002134", "HP:0002140", "HP:0002621", "HP:0003324", "HP:0003403", "HP:0003473", "HP:0003701", "HP:0004325", "HP:0007687", "HP:0010516", "HP:0012273", "HP:0012389", "HP:0030000", "HP:0030202", "HP:0100522"], "RareDisease": ["OMIM:254200", "CCRD:32", "ORPHA:589"], "Department": "Neurology"} | |
| {"Phenotype": ["HP:0000012", "HP:0000016", "HP:0000019", "HP:0000020", "HP:0000875", "HP:0001397", "HP:0002019", "HP:0002067", "HP:0002134", "HP:0002304", "HP:0002312", "HP:0002345", "HP:0002360", "HP:0002362", "HP:0002527", "HP:0003457", "HP:0004325", "HP:0005162", "HP:0007010", "HP:0007064", "HP:0009027", "HP:0010532", "HP:0012397", "HP:0012531", "HP:0012614", "HP:0012651", "HP:0030047", "HP:0030237", "HP:0100507", "HP:0100515", "HP:0100518"], "RareDisease": ["ORPHA:102", "ORPHA:98933", "CCRD:77", "ORPHA:227510", "OMIM:146500"], "Department": "Neurology"} | |
| {"Phenotype": ["HP:0000012", "HP:0000019", "HP:0000020", "HP:0000217", "HP:0000572", "HP:0000822", "HP:0001028", "HP:0001098", "HP:0001260", "HP:0001279", "HP:0001350", "HP:0001655", "HP:0002075", "HP:0002312", "HP:0002353", "HP:0002354", "HP:0002403", "HP:0002442", "HP:0002500", "HP:0002515", "HP:0002540", "HP:0002607", "HP:0002634", "HP:0002637", "HP:0003445", "HP:0003487", "HP:0004324", "HP:0004396", "HP:0004673", "HP:0004942", "HP:0006801", "HP:0006879", "HP:0007010", "HP:0007361", "HP:0008696", "HP:0010438", "HP:0010526", "HP:0010875", "HP:0011441", "HP:0011448", "HP:0012651", "HP:0030902", "HP:0100515", "HP:0100518", "HP:0100639"], "RareDisease": ["ORPHA:102", "ORPHA:98933", "CCRD:77", "ORPHA:227510", "OMIM:146500"], "Department": "Neurology"} | |
| {"Phenotype": ["HP:0000020", "HP:0000738", "HP:0000752", "HP:0001279", "HP:0001397", "HP:0002067", "HP:0002075", "HP:0002136", "HP:0002198", "HP:0002359", "HP:0002360", "HP:0002487", "HP:0002527", "HP:0002540", "HP:0002621", "HP:0003416", "HP:0003418", "HP:0003487", "HP:0003551", "HP:0003698", "HP:0005108", "HP:0005344", "HP:0006879", "HP:0006895", "HP:0007010", "HP:0007311", "HP:0007340", "HP:0008480", "HP:0012031", "HP:0012651", "HP:0012735"], "RareDisease": ["ORPHA:102", "ORPHA:98933", "CCRD:77", "ORPHA:227510", "OMIM:146500"], "Department": "Neurology"} | |
| {"Phenotype": ["HP:0000012", "HP:0000019", "HP:0000020", "HP:0001279", "HP:0001297", "HP:0001350", "HP:0002019", "HP:0002059", "HP:0002075", "HP:0002143", "HP:0002403", "HP:0002500", "HP:0002516", "HP:0002637", "HP:0002922", "HP:0003445", "HP:0003487", "HP:0003551", "HP:0007185", "HP:0007340", "HP:0008775", "HP:0010535", "HP:0012229", "HP:0012534", "HP:0012651", "HP:0012874", "HP:0100008", "HP:0100515", "HP:0100518", "HP:0100526", "HP:0100639", "HP:0100712"], "RareDisease": ["ORPHA:102", "ORPHA:98933", "CCRD:77", "ORPHA:227510", "OMIM:146500"], "Department": "Neurology"} | |
| {"Phenotype": ["HP:0000017", "HP:0000019", "HP:0000020", "HP:0000026", "HP:0000819", "HP:0001350", "HP:0002067", "HP:0002136", "HP:0002317", "HP:0002354", "HP:0002403", "HP:0002442", "HP:0002527", "HP:0002600", "HP:0002607", "HP:0003401", "HP:0003487", "HP:0004325", "HP:0005108", "HP:0006938", "HP:0007328", "HP:0008711", "HP:0010614", "HP:0010875", "HP:0012651", "HP:0031993", "HP:0100515", "HP:0100518", "HP:0100712"], "RareDisease": ["ORPHA:102", "ORPHA:98933", "CCRD:77", "ORPHA:227510", "OMIM:146500"], "Department": "Neurology"} | |
| {"Phenotype": ["HP:0000017", "HP:0000093", "HP:0000790", "HP:0000822", "HP:0001061", "HP:0002153", "HP:0003073", "HP:0003124", "HP:0003149", "HP:0003259", "HP:0005994", "HP:0012086"], "RareDisease": ["OMIM:301050", "OMIM:203780", "OMIM:104200", "ORPHA:63", "CCRD:3"], "Department": "Nephrology"} | |
| {"Phenotype": ["HP:0000093", "HP:0000822", "HP:0001945", "HP:0003124", "HP:0003259", "HP:0008625", "HP:0012086", "HP:0012587", "HP:0012615"], "RareDisease": ["OMIM:301050", "OMIM:203780", "OMIM:104200", "ORPHA:63", "CCRD:3"], "Department": "Nephrology"} | |
| {"Phenotype": ["HP:0000123", "HP:0000246", "HP:0001757", "HP:0002907", "HP:0012086", "HP:0012587"], "RareDisease": ["OMIM:301050", "OMIM:203780", "OMIM:104200", "ORPHA:63", "CCRD:3"], "Department": "Nephrology"} | |
| {"Phenotype": ["HP:0000017", "HP:0000093", "HP:0000099", "HP:0000790", "HP:0003496", "HP:0003565", "HP:0005994", "HP:0012622", "HP:0100515"], "RareDisease": ["OMIM:301050", "OMIM:203780", "OMIM:104200", "ORPHA:63", "CCRD:3"], "Department": "Nephrology"} | |
| {"Phenotype": ["HP:0000093", "HP:0000099", "HP:0000365", "HP:0000572", "HP:0001945", "HP:0003124", "HP:0003259", "HP:0003565", "HP:0011110", "HP:0012086", "HP:0012587"], "RareDisease": ["OMIM:301050", "OMIM:203780", "OMIM:104200", "ORPHA:63", "CCRD:3"], "Department": "Nephrology"} | |
| {"Phenotype": ["HP:0000092", "HP:0000093", "HP:0000097", "HP:0000099", "HP:0000600", "HP:0001945", "HP:0002209", "HP:0003073", "HP:0003124", "HP:0003259", "HP:0003651", "HP:0004324", "HP:0005576"], "RareDisease": ["OMIM:301050", "OMIM:203780", "OMIM:104200", "ORPHA:63", "CCRD:3"], "Department": "Nephrology"} | |
| {"Phenotype": ["HP:0000093", "HP:0000099", "HP:0000107", "HP:0000365", "HP:0000790", "HP:0001894", "HP:0001974", "HP:0003073", "HP:0003124", "HP:0004396", "HP:0008775", "HP:0012622"], "RareDisease": ["OMIM:301050", "OMIM:203780", "OMIM:104200", "ORPHA:63", "CCRD:3"], "Department": "Nephrology"} | |
| {"Phenotype": ["HP:0000093", "HP:0000217", "HP:0001520", "HP:0001945", "HP:0003124", "HP:0004325", "HP:0012587"], "RareDisease": ["OMIM:301050", "OMIM:203780", "OMIM:104200", "ORPHA:63", "CCRD:3"], "Department": "Nephrology"} | |
| {"Phenotype": ["HP:0000093", "HP:0000217", "HP:0000790", "HP:0000822", "HP:0001622", "HP:0001894", "HP:0001974", "HP:0002028", "HP:0002329", "HP:0002829", "HP:0003138", "HP:0003259", "HP:0004325"], "RareDisease": ["ORPHA:324", "CCRD:27", "OMIM:301500"], "Department": "Nephrology"} | |
| {"Phenotype": ["HP:0000069", "HP:0000093", "HP:0000372", "HP:0003124", "HP:0004277", "HP:0005918", "HP:0009900", "HP:0040090", "HP:0100582"], "RareDisease": ["ORPHA:324", "CCRD:27", "OMIM:301500"], "Department": "Nephrology"} | |
| {"Phenotype": ["HP:0000017", "HP:0000093", "HP:0000099", "HP:0000107", "HP:0000126", "HP:0000622", "HP:0000790", "HP:0000794", "HP:0000822", "HP:0001279", "HP:0001639", "HP:0001824", "HP:0001962", "HP:0002155", "HP:0003124", "HP:0003259", "HP:0005115", "HP:0005144", "HP:0005264", "HP:0006682", "HP:0010741", "HP:0011712", "HP:0012249", "HP:0012622", "HP:0025168", "HP:0100749"], "RareDisease": ["ORPHA:324", "CCRD:27", "OMIM:301500"], "Department": "Nephrology"} | |
| {"Phenotype": ["HP:0000128", "HP:0000988", "HP:0001657", "HP:0002094", "HP:0002900", "HP:0002914", "HP:0002917", "HP:0003081", "HP:0003324", "HP:0003401", "HP:0005567", "HP:0012604", "HP:0012605", "HP:0012608", "HP:0200114"], "RareDisease": ["CCRD:33", "ORPHA:358", "OMIM:263800"], "Department": "Nephrology"} | |
| {"Phenotype": ["HP:0000017", "HP:0000128", "HP:0000975", "HP:0001025", "HP:0001397", "HP:0001962", "HP:0002149", "HP:0002900", "HP:0002914", "HP:0003081", "HP:0007340", "HP:0011703", "HP:0012605", "HP:0031964"], "RareDisease": ["CCRD:33", "ORPHA:358", "OMIM:263800"], "Department": "Nephrology"} | |
| {"Phenotype": ["HP:0000155", "HP:0000848", "HP:0001279", "HP:0001962", "HP:0002014", "HP:0002094", "HP:0002900", "HP:0002917", "HP:0003324", "HP:0007340", "HP:0010532", "HP:0010872", "HP:0011280", "HP:0011954", "HP:0012534", "HP:0100576"], "RareDisease": ["CCRD:33", "ORPHA:358", "OMIM:263800"], "Department": "Nephrology"} | |
| {"Phenotype": ["HP:0000128", "HP:0002900", "HP:0003081", "HP:0003127", "HP:0200114"], "RareDisease": ["CCRD:33", "ORPHA:358", "OMIM:263800"], "Department": "Nephrology"} | |
| {"Phenotype": ["HP:0000093", "HP:0001025", "HP:0001873", "HP:0001875", "HP:0001876", "HP:0001882", "HP:0001889", "HP:0001923", "HP:0002014", "HP:0002321", "HP:0003074", "HP:0003324", "HP:0003573", "HP:0004325", "HP:0008282", "HP:0011273", "HP:0012086", "HP:0012135", "HP:0012587", "HP:0031956", "HP:0100724"], "RareDisease": ["OMIM:300818", "CCRD:88", "OMIM:615399", "ORPHA:447"], "Department": "Hematology"} | |
| {"Phenotype": ["HP:0000017", "HP:0000093", "HP:0000790", "HP:0000822", "HP:0000952", "HP:0001081", "HP:0001289", "HP:0001596", "HP:0001649", "HP:0001903", "HP:0001915", "HP:0001923", "HP:0001945", "HP:0001962", "HP:0002013", "HP:0002014", "HP:0002018", "HP:0002094", "HP:0002202", "HP:0002209", "HP:0002900", "HP:0003074", "HP:0003259", "HP:0003270", "HP:0003565", "HP:0003573", "HP:0004324", "HP:0008282", "HP:0008775", "HP:0012086", "HP:0031245", "HP:0100519"], "RareDisease": ["OMIM:300818", "CCRD:88", "OMIM:615399", "ORPHA:447"], "Department": "Hematology"} | |
| {"Phenotype": ["HP:0000716", "HP:0001407", "HP:0001433", "HP:0001541", "HP:0001744", "HP:0001824", "HP:0001875", "HP:0001882", "HP:0001903", "HP:0001923", "HP:0002240", "HP:0003270", "HP:0003324", "HP:0004298", "HP:0004396", "HP:0004447", "HP:0005201", "HP:0005264", "HP:0005513", "HP:0008442", "HP:0010741", "HP:0011273", "HP:0011974", "HP:0012086", "HP:0031554", "HP:0031555", "HP:0041048", "HP:0100016"], "RareDisease": ["OMIM:300818", "CCRD:88", "OMIM:615399", "ORPHA:447"], "Department": "Hematology"} | |
| {"Phenotype": ["HP:0000155", "HP:0000988", "HP:0001873", "HP:0001875", "HP:0001876", "HP:0001882", "HP:0001903", "HP:0001923", "HP:0001945", "HP:0002573", "HP:0002788", "HP:0002863", "HP:0011273", "HP:0012130", "HP:0012143"], "RareDisease": ["OMIM:300818", "CCRD:88", "OMIM:615399", "ORPHA:447"], "Department": "Hematology"} | |
| {"Phenotype": ["HP:0000979", "HP:0000988", "HP:0001324", "HP:0001541", "HP:0001873", "HP:0001903", "HP:0001945", "HP:0001974", "HP:0002240", "HP:0002321", "HP:0003419", "HP:0003573", "HP:0004831", "HP:0011947", "HP:0012086", "HP:0012130", "HP:0012135", "HP:0012156", "HP:0012514", "HP:0030169", "HP:0030242", "HP:0031245", "HP:0100724"], "RareDisease": ["OMIM:300818", "CCRD:88", "OMIM:615399", "ORPHA:447"], "Department": "Hematology"} | |
| {"Phenotype": ["HP:0000093", "HP:0000138", "HP:0000790", "HP:0000821", "HP:0000822", "HP:0001000", "HP:0001433", "HP:0001541", "HP:0001635", "HP:0001640", "HP:0001655", "HP:0001698", "HP:0001702", "HP:0001744", "HP:0001894", "HP:0001903", "HP:0001945", "HP:0002090", "HP:0002092", "HP:0002148", "HP:0002202", "HP:0002573", "HP:0002716", "HP:0002901", "HP:0002925", "HP:0003073", "HP:0003270", "HP:0003565", "HP:0004325", "HP:0005108", "HP:0005225", "HP:0005345", "HP:0010741", "HP:0011227", "HP:0012050", "HP:0012226", "HP:0012531", "HP:0012534", "HP:0030160", "HP:0030718", "HP:0031295", "HP:0031508", "HP:0100879"], "RareDisease": ["ORPHA:2905", "CCRD:91"], "Department": "Hematology"} | |
| {"Phenotype": ["HP:0000282", "HP:0000735", "HP:0000741", "HP:0000821", "HP:0000870", "HP:0000953", "HP:0001085", "HP:0001394", "HP:0001433", "HP:0001541", "HP:0001698", "HP:0001744", "HP:0001903", "HP:0001945", "HP:0002094", "HP:0002202", "HP:0002716", "HP:0003075", "HP:0003270", "HP:0003457", "HP:0003484", "HP:0004325", "HP:0004396", "HP:0005108", "HP:0005201", "HP:0009027", "HP:0010741", "HP:0012050", "HP:0012514", "HP:0012534", "HP:0031508", "HP:0032290"], "RareDisease": ["ORPHA:2905", "CCRD:91"], "Department": "Hematology"} | |
| {"Phenotype": ["HP:0001085", "HP:0001397", "HP:0001658", "HP:0001677", "HP:0001744", "HP:0001894", "HP:0002092", "HP:0003261", "HP:0003551", "HP:0005625", "HP:0006698", "HP:0007220", "HP:0007340", "HP:0011402", "HP:0011711", "HP:0012135", "HP:0012534", "HP:0012651", "HP:0025168", "HP:0031295", "HP:0045010", "HP:0100711"], "RareDisease": ["ORPHA:2905", "CCRD:91"], "Department": "Hematology"} | |
| {"Phenotype": ["HP:0000093", "HP:0000095", "HP:0000126", "HP:0000464", "HP:0000790", "HP:0000821", "HP:0000822", "HP:0000953", "HP:0001072", "HP:0001541", "HP:0001698", "HP:0001711", "HP:0001744", "HP:0001824", "HP:0001894", "HP:0001969", "HP:0002014", "HP:0002140", "HP:0002149", "HP:0002153", "HP:0002202", "HP:0002716", "HP:0002840", "HP:0003259", "HP:0003261", "HP:0003270", "HP:0003474", "HP:0003551", "HP:0003565", "HP:0004295", "HP:0004387", "HP:0005180", "HP:0007340", "HP:0010741", "HP:0011732", "HP:0011733", "HP:0012534", "HP:0030237", "HP:0031508"], "RareDisease": ["ORPHA:2905", "CCRD:91"], "Department": "Hematology"} | |
| {"Phenotype": ["HP:0000282", "HP:0000787", "HP:0000790", "HP:0000821", "HP:0000958", "HP:0001541", "HP:0001640", "HP:0001646", "HP:0001698", "HP:0001744", "HP:0001824", "HP:0001903", "HP:0002092", "HP:0002149", "HP:0002202", "HP:0002360", "HP:0002729", "HP:0002875", "HP:0002901", "HP:0003073", "HP:0003259", "HP:0003270", "HP:0003546", "HP:0004332", "HP:0004348", "HP:0004396", "HP:0005133", "HP:0005231", "HP:0011227", "HP:0012514", "HP:0031185", "HP:0031245", "HP:0031507", "HP:0032335", "HP:0040189", "HP:0100016", "HP:0100281"], "RareDisease": ["ORPHA:2905", "CCRD:91"], "Department": "Hematology"} | |
| {"Phenotype": ["HP:0000020", "HP:0001433", "HP:0001538", "HP:0001945", "HP:0002205", "HP:0002254", "HP:0002527", "HP:0002607", "HP:0004333", "HP:0012735"], "RareDisease": ["ORPHA:77293", "OMIM:607616", "CCRD:82.2", "CCRD:82.3", "OMIM:257220", "ORPHA:646", "OMIM:607625", "CCRD:82.1", "OMIM:257200"], "Department": "Hematology"} | |
| {"Phenotype": ["HP:0000545", "HP:0000610", "HP:0001744", "HP:0001882", "HP:0001923", "HP:0002014", "HP:0002027", "HP:0002134", "HP:0002315", "HP:0002716", "HP:0003146", "HP:0004396", "HP:0006887", "HP:0008897", "HP:0100016", "HP:0430023"], "RareDisease": ["ORPHA:77293", "OMIM:607616", "CCRD:82.2", "CCRD:82.3", "OMIM:257220", "ORPHA:646", "OMIM:607625", "CCRD:82.1", "OMIM:257200"], "Department": "Hematology"} | |
| {"Phenotype": ["HP:0000093", "HP:0001433", "HP:0001640", "HP:0001873", "HP:0001875", "HP:0001876", "HP:0001882", "HP:0001903", "HP:0001923", "HP:0001933", "HP:0001981", "HP:0002013", "HP:0002018", "HP:0002027", "HP:0002240", "HP:0002643", "HP:0002788", "HP:0002908", "HP:0003146", "HP:0003546", "HP:0003568", "HP:0003573", "HP:0003645", "HP:0004445", "HP:0008940", "HP:0011273", "HP:0011877", "HP:0012130", "HP:0012143", "HP:0012437", "HP:0031295"], "RareDisease": ["ORPHA:77293", "OMIM:607616", "CCRD:82.2", "CCRD:82.3", "OMIM:257220", "ORPHA:646", "OMIM:607625", "CCRD:82.1", "OMIM:257200"], "Department": "Hematology"} | |
| {"Phenotype": ["HP:0000023", "HP:0000211", "HP:0001249", "HP:0001250", "HP:0001260", "HP:0001281", "HP:0001288", "HP:0001350", "HP:0001744", "HP:0001883", "HP:0002088", "HP:0002307", "HP:0002354", "HP:0002357", "HP:0002442", "HP:0002500", "HP:0007064", "HP:0007185", "HP:0011441", "HP:0430023"], "RareDisease": ["ORPHA:77293", "OMIM:607616", "CCRD:82.2", "CCRD:82.3", "OMIM:257220", "ORPHA:646", "OMIM:607625", "CCRD:82.1", "OMIM:257200"], "Department": "Hematology"} | |
| {"Phenotype": ["HP:0000823", "HP:0000952", "HP:0000978", "HP:0001433", "HP:0001633", "HP:0001635", "HP:0001640", "HP:0001646", "HP:0001653", "HP:0001698", "HP:0001712", "HP:0001744", "HP:0001873", "HP:0001875", "HP:0001876", "HP:0001882", "HP:0001903", "HP:0001945", "HP:0001948", "HP:0002092", "HP:0002249", "HP:0002875", "HP:0002900", "HP:0002908", "HP:0003073", "HP:0003270", "HP:0003324", "HP:0003546", "HP:0003573", "HP:0004325", "HP:0004406", "HP:0005201", "HP:0005213", "HP:0005619", "HP:0006530", "HP:0006559", "HP:0008151", "HP:0008897", "HP:0011037", "HP:0011103", "HP:0011900", "HP:0012251", "HP:0012531", "HP:0030872", "HP:0031185", "HP:0031245", "HP:0031295"], "RareDisease": ["ORPHA:77293", "OMIM:607616", "CCRD:82.2", "CCRD:82.3", "OMIM:257220", "ORPHA:646", "OMIM:607625", "CCRD:82.1", "OMIM:257200"], "Department": "Hematology"} | |