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RDpatient_data/Public/HMS.jsonl
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{"Phenotype": ["HP:0001225", "HP:0001382", "HP:0001443", "HP:0001894", "HP:0001974", "HP:0003419", "HP:0025238", "HP:0030833", "HP:0030834", "HP:0030835", "HP:0030836", "HP:0030839"], "RareDisease": ["OMIM:106300"]}
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| 2 |
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{"Phenotype": ["HP:0000793", "HP:0001974", "HP:0002205", "HP:0002633", "HP:0003496", "HP:0100778"], "RareDisease": ["OMIM:123550", "ORPHA:91138"]}
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| 3 |
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{"Phenotype": ["HP:0000155", "HP:0000246", "HP:0000360", "HP:0000365", "HP:0000572", "HP:0000651", "HP:0000787", "HP:0000790", "HP:0001097", "HP:0001155", "HP:0001279", "HP:0001369", "HP:0001880", "HP:0001947", "HP:0002018", "HP:0002027", "HP:0002150", "HP:0002315", "HP:0002321", "HP:0002653", "HP:0002875", "HP:0003236", "HP:0003326", "HP:0003401", "HP:0003418", "HP:0003474", "HP:0003537", "HP:0004411", "HP:0005197", "HP:0009763", "HP:0011935", "HP:0012378", "HP:0012595", "HP:0030140", "HP:0030833", "HP:0030836", "HP:0030840", "HP:0032154", "HP:0100749", "HP:0100827", "HP:0200034", "HP:0200039", "HP:0410019"], "RareDisease": ["OMIM:109650", "ORPHA:117"]}
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| 4 |
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{"Phenotype": ["HP:0000421", "HP:0002105", "HP:0002113", "HP:0002829", "HP:0002907", "HP:0011227", "HP:0012213", "HP:0032230"], "RareDisease": ["OMIM:608710", "ORPHA:900"]}
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| 5 |
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{"Phenotype": ["HP:0000093", "HP:0001541", "HP:0001735", "HP:0001744", "HP:0001876", "HP:0001945", "HP:0002014", "HP:0002027", "HP:0002586", "HP:0002829", "HP:0003236", "HP:0003324", "HP:0003326", "HP:0003493", "HP:0003546", "HP:0011106", "HP:0012378", "HP:0025435", "HP:0030010", "HP:0410019"], "RareDisease": ["OMIM:152700", "OMIM:606579", "OMIM:609939", "OMIM:614420", "ORPHA:93552"]}
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| 6 |
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{"Phenotype": ["HP:0000083", "HP:0000093", "HP:0000099", "HP:0000107", "HP:0000554", "HP:0001369", "HP:0001888", "HP:0002204", "HP:0002625", "HP:0002907", "HP:0003225", "HP:0003493", "HP:0005584", "HP:0030839", "HP:0032376"], "RareDisease": ["OMIM:144700", "OMIM:152700", "OMIM:300854", "OMIM:605074", "OMIM:606579", "OMIM:609939", "OMIM:614420", "ORPHA:93552"]}
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| 7 |
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{"Phenotype": ["HP:0000089", "HP:0000107", "HP:0000217", "HP:0001407", "HP:0001785", "HP:0001962", "HP:0002015", "HP:0002018", "HP:0002020", "HP:0002027", "HP:0002036", "HP:0002110", "HP:0002321", "HP:0003138", "HP:0003165", "HP:0003236", "HP:0003259", "HP:0003418", "HP:0003565", "HP:0006682", "HP:0009098", "HP:0011227", "HP:0011897", "HP:0012213", "HP:0012378", "HP:0012387", "HP:0012514", "HP:0025179", "HP:0025392", "HP:0030057", "HP:0030830", "HP:0030877", "HP:0032017", "HP:0045051", "HP:0100643", "HP:0410019"], "RareDisease": ["OMIM:270150"]}
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| 8 |
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{"Phenotype": ["HP:0000271", "HP:0000975", "HP:0000980", "HP:0001279", "HP:0001824", "HP:0001974", "HP:0002013", "HP:0002018", "HP:0002315", "HP:0003546", "HP:0003565", "HP:0012378", "HP:0012531", "HP:0025143", "HP:0030164"], "RareDisease": ["OMIM:187360", "ORPHA:397"]}
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| 9 |
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{"Phenotype": ["HP:0000540", "HP:0000554", "HP:0001097", "HP:0001443", "HP:0002808", "HP:0002907", "HP:0003418", "HP:0005197", "HP:0100512"], "RareDisease": ["OMIM:106300", "OMIM:183840"]}
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| 10 |
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{"Phenotype": ["HP:0000083", "HP:0000366", "HP:0000989", "HP:0001639", "HP:0001644", "HP:0001698", "HP:0001712", "HP:0001945", "HP:0002094", "HP:0010876", "HP:0012213", "HP:0012378", "HP:0012664", "HP:0012735", "HP:0012819", "HP:0032017"], "RareDisease": ["OMIM:207600", "ORPHA:3287"]}
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| 11 |
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{"Phenotype": ["HP:0000012", "HP:0000246", "HP:0001649", "HP:0001945", "HP:0001974", "HP:0002105", "HP:0002202", "HP:0003115", "HP:0005110", "HP:0011227", "HP:0012735", "HP:0020181", "HP:0025392", "HP:0100534", "HP:0100749"], "RareDisease": ["OMIM:608710", "ORPHA:900"]}
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| 12 |
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{"Phenotype": ["HP:0000217", "HP:0000633", "HP:0001167", "HP:0001225", "HP:0001760", "HP:0001935", "HP:0002076", "HP:0002815", "HP:0002829", "HP:0002923", "HP:0003212", "HP:0003237", "HP:0003326", "HP:0003394", "HP:0003493", "HP:0004386", "HP:0005197", "HP:0005263", "HP:0011911", "HP:0030836", "HP:0030839", "HP:0030840", "HP:0032235", "HP:0032308"], "RareDisease": ["OMIM:270150", "ORPHA:29207", "ORPHA:85408", "ORPHA:85414", "ORPHA:85435"]}
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| 13 |
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{"Phenotype": ["HP:0000097", "HP:0001065", "HP:0002149", "HP:0002155", "HP:0002907", "HP:0002910", "HP:0003073", "HP:0003124", "HP:0003138", "HP:0003149", "HP:0003565", "HP:0005413", "HP:0007390", "HP:0009741", "HP:0010783", "HP:0010931", "HP:0011227", "HP:0012213", "HP:0012595", "HP:0012611", "HP:0100515"], "RareDisease": ["OMIM:603278", "OMIM:603965", "OMIM:607832", "OMIM:612551", "OMIM:613237", "OMIM:614131", "OMIM:616002", "OMIM:616032", "OMIM:616220"]}
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| 14 |
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{"Phenotype": ["HP:0000155", "HP:0000246", "HP:0000433", "HP:0001894", "HP:0001945", "HP:0001974", "HP:0002094", "HP:0002815", "HP:0003155", "HP:0003565", "HP:0005413", "HP:0011227", "HP:0012219", "HP:0025289", "HP:0030948", "HP:0032118", "HP:0032154", "HP:0100721", "HP:0100749"], "RareDisease": ["OMIM:109650", "ORPHA:117"]}
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| 15 |
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{"Phenotype": ["HP:0000083", "HP:0000099", "HP:0000246", "HP:0000366", "HP:0000509", "HP:0001945", "HP:0002105", "HP:0003546", "HP:0012735", "HP:0030834", "HP:0030835", "HP:0030839", "HP:0040223", "HP:0100520"], "RareDisease": ["OMIM:608710", "ORPHA:900"]}
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| 16 |
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{"Phenotype": ["HP:0000083", "HP:0000107", "HP:0000572", "HP:0000822", "HP:0000979", "HP:0001397", "HP:0001407", "HP:0001970", "HP:0002018", "HP:0002088", "HP:0002094", "HP:0002315", "HP:0002907", "HP:0009741", "HP:0012085", "HP:0012378", "HP:0012398", "HP:0012461", "HP:0012594", "HP:0012735", "HP:0031812", "HP:0100721"], "RareDisease": ["OMIM:181000", "OMIM:612387", "ORPHA:797"]}
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| 17 |
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{"Phenotype": ["HP:0000100", "HP:0000366", "HP:0000790", "HP:0000793", "HP:0000979", "HP:0001225", "HP:0002094", "HP:0002155", "HP:0003124", "HP:0004324", "HP:0010741", "HP:0012398", "HP:0012596", "HP:0012597", "HP:0031504"], "RareDisease": ["ORPHA:761"]}
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| 18 |
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{"Phenotype": ["HP:0000164", "HP:0001596", "HP:0002659", "HP:0003282", "HP:0004322", "HP:0005268", "HP:0012378", "HP:0012514", "HP:0031456"], "RareDisease": ["CCRD:50", "OMIM:146300", "ORPHA:436"]}
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| 19 |
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{"Phenotype": ["HP:0000265", "HP:0000365", "HP:0000666", "HP:0000858", "HP:0001649", "HP:0001785", "HP:0001824", "HP:0001962", "HP:0002321", "HP:0005421", "HP:0010628", "HP:0030057", "HP:0045042", "HP:0200097"], "RareDisease": ["OMIM:181000", "OMIM:612387", "ORPHA:797"]}
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| 20 |
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{"Phenotype": ["HP:0000246", "HP:0000520", "HP:0000651", "HP:0000822", "HP:0001144", "HP:0001653", "HP:0001659", "HP:0001712", "HP:0002155", "HP:0002240", "HP:0002896", "HP:0003124", "HP:0005180", "HP:0012213", "HP:0012246", "HP:0032300", "HP:0100540"], "RareDisease": ["CCRD:56", "OMIM:228800", "ORPHA:49041"]}
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| 21 |
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{"Phenotype": ["HP:0000365", "HP:0001649", "HP:0001744", "HP:0001945", "HP:0002153", "HP:0002321", "HP:0002850", "HP:0003072", "HP:0003115", "HP:0003565", "HP:0005339", "HP:0011227", "HP:0011788", "HP:0025238", "HP:0030835", "HP:0030836", "HP:0030838", "HP:0030839"], "RareDisease": ["OMIM:120100", "OMIM:191900", "OMIM:607115", "OMIM:611762", "OMIM:614468", "OMIM:616115", "ORPHA:1451", "ORPHA:47045", "ORPHA:575"]}
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| 22 |
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{"Phenotype": ["HP:0000010", "HP:0000230", "HP:0000282", "HP:0000421", "HP:0000975", "HP:0001600", "HP:0001824", "HP:0001880", "HP:0001935", "HP:0002105", "HP:0002113", "HP:0002153", "HP:0002875", "HP:0003546", "HP:0008221", "HP:0010287", "HP:0010628", "HP:0011227", "HP:0012378", "HP:0012398", "HP:0025289", "HP:0025392", "HP:0030001", "HP:0030835", "HP:0030839", "HP:0031098", "HP:0031292", "HP:0032230", "HP:0100631"], "RareDisease": ["OMIM:181000", "OMIM:612387", "ORPHA:797"]}
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| 23 |
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{"Phenotype": ["HP:0000036", "HP:0000155", "HP:0000421", "HP:0000554", "HP:0000572", "HP:0000790", "HP:0000822", "HP:0001369", "HP:0001785", "HP:0002027", "HP:0002380", "HP:0002829", "HP:0002910", "HP:0002922", "HP:0003236", "HP:0003259", "HP:0003326", "HP:0003394", "HP:0003416", "HP:0003418", "HP:0003474", "HP:0007042", "HP:0009027", "HP:0010280", "HP:0011911", "HP:0012378", "HP:0012534", "HP:0025435", "HP:0030948", "HP:0032101", "HP:0032154", "HP:0100518", "HP:0410019"], "RareDisease": ["OMIM:109650", "ORPHA:117"]}
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| 24 |
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{"Phenotype": ["HP:0000989", "HP:0001649", "HP:0001785", "HP:0001824", "HP:0001888", "HP:0001903", "HP:0001945", "HP:0001974", "HP:0002815", "HP:0003073", "HP:0003115", "HP:0003236", "HP:0003326", "HP:0003458", "HP:0003493", "HP:0003546", "HP:0003565", "HP:0005197", "HP:0005413", "HP:0006163", "HP:0010783", "HP:0011227", "HP:0011897", "HP:0012514", "HP:0012735", "HP:0025131", "HP:0030167", "HP:0032232", "HP:0100614", "HP:0100643", "HP:0410174"], "RareDisease": ["ORPHA:81"]}
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| 25 |
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{"Phenotype": ["HP:0000961", "HP:0001397", "HP:0001880", "HP:0002113", "HP:0002716", "HP:0002910", "HP:0003124", "HP:0003165", "HP:0003212", "HP:0011799", "HP:0030057", "HP:0030948"], "RareDisease": ["ORPHA:482"]}
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| 26 |
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{"Phenotype": ["HP:0000246", "HP:0001880", "HP:0002094", "HP:0002113", "HP:0003212", "HP:0025392", "HP:0030057", "HP:0100582"], "RareDisease": ["ORPHA:183"]}
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| 27 |
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{"Phenotype": ["HP:0000155", "HP:0000853", "HP:0001369", "HP:0001600", "HP:0001903", "HP:0001962", "HP:0002020", "HP:0002315", "HP:0002380", "HP:0002385", "HP:0002815", "HP:0002829", "HP:0003326", "HP:0003445", "HP:0003474", "HP:0003493", "HP:0005421", "HP:0006261", "HP:0010876", "HP:0011712", "HP:0011717", "HP:0011911", "HP:0012513", "HP:0012534", "HP:0030833", "HP:0030835", "HP:0030837", "HP:0030839", "HP:0031731", "HP:0032154", "HP:0100643", "HP:0410281"], "RareDisease": ["ORPHA:81"]}
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| 28 |
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{"Phenotype": ["HP:0000245", "HP:0000421", "HP:0000433", "HP:0002105", "HP:0025095", "HP:0030835", "HP:0030839", "HP:0030840"], "RareDisease": ["OMIM:608710", "ORPHA:900"]}
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| 29 |
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{"Phenotype": ["HP:0001397", "HP:0001945", "HP:0001974", "HP:0002020", "HP:0002240", "HP:0002896", "HP:0002910", "HP:0003418", "HP:0003546", "HP:0005165", "HP:0005197", "HP:0008775", "HP:0011227", "HP:0012317", "HP:0012378", "HP:0030830", "HP:0030835", "HP:0030839", "HP:0030948", "HP:0031352", "HP:0045051", "HP:0045073", "HP:0100749", "HP:0200041"], "RareDisease": ["OMIM:106300", "OMIM:183840"]}
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| 30 |
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{"Phenotype": ["HP:0001974", "HP:0002754", "HP:0003565", "HP:0011227", "HP:0030793", "HP:0040264", "HP:0100774", "HP:0100847"], "RareDisease": ["ORPHA:793"]}
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| 31 |
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{"Phenotype": ["HP:0002814", "HP:0002907", "HP:0003236", "HP:0003401", "HP:0003565", "HP:0008151", "HP:0011227", "HP:0012733", "HP:0045042", "HP:0200041"], "RareDisease": ["OMIM:615688", "ORPHA:767"]}
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| 32 |
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{"Phenotype": ["HP:0001824", "HP:0001882", "HP:0002094", "HP:0002321", "HP:0003236", "HP:0003546", "HP:0025179", "HP:0025238", "HP:0030057", "HP:0045051"], "RareDisease": ["ORPHA:81"]}
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| 33 |
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{"Phenotype": ["HP:0000072", "HP:0001744", "HP:0003259", "HP:0004942", "HP:0005200", "HP:0008714", "HP:0011227", "HP:0030150", "HP:0030423", "HP:0032300", "HP:0100581"], "RareDisease": ["ORPHA:49041"]}
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| 34 |
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{"Phenotype": ["HP:0000017", "HP:0001600", "HP:0001824", "HP:0001873", "HP:0001903", "HP:0001945", "HP:0001974", "HP:0002315", "HP:0002923", "HP:0003165", "HP:0003262", "HP:0003326", "HP:0005339", "HP:0010931", "HP:0011227", "HP:0012213", "HP:0012514", "HP:0012664", "HP:0030155", "HP:0030166", "HP:0030948", "HP:0031520", "HP:0032300", "HP:0100512", "HP:0100614"], "RareDisease": ["ORPHA:732"]}
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| 35 |
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{"Phenotype": ["HP:0000010", "HP:0001155", "HP:0001225", "HP:0001443", "HP:0001882", "HP:0001935", "HP:0001943", "HP:0002315", "HP:0002321", "HP:0003401", "HP:0003416", "HP:0003418", "HP:0003474", "HP:0003565", "HP:0005197", "HP:0005421", "HP:0006979", "HP:0011227", "HP:0012317", "HP:0012513", "HP:0025230", "HP:0030834", "HP:0030836", "HP:0030839", "HP:0031185", "HP:0100686"], "RareDisease": ["OMIM:106300", "OMIM:183840"]}
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| 36 |
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{"Phenotype": ["HP:0000103", "HP:0001061", "HP:0001959", "HP:0002315", "HP:0002815", "HP:0002829", "HP:0003236", "HP:0005197", "HP:0011911", "HP:0012378", "HP:0025238", "HP:0030835", "HP:0030836", "HP:0030839", "HP:0030841", "HP:0032300"], "RareDisease": ["CCRD:28", "OMIM:134610", "OMIM:249100", "ORPHA:29207", "ORPHA:342", "ORPHA:85408", "ORPHA:85414", "ORPHA:85435"]}
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| 37 |
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{"Phenotype": ["HP:0000155", "HP:0000651", "HP:0001167", "HP:0001279", "HP:0001369", "HP:0001945", "HP:0001974", "HP:0002315", "HP:0002907", "HP:0003043", "HP:0003249", "HP:0003326", "HP:0003401", "HP:0003418", "HP:0003474", "HP:0003546", "HP:0003565", "HP:0005413", "HP:0011227", "HP:0011706", "HP:0012378", "HP:0012574", "HP:0012595", "HP:0030837", "HP:0032154", "HP:0032308"], "RareDisease": ["CCRD:28", "OMIM:109650", "OMIM:134610", "OMIM:249100", "ORPHA:117", "ORPHA:342"]}
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| 38 |
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{"Phenotype": ["HP:0000365", "HP:0000421", "HP:0001288", "HP:0001945", "HP:0003326", "HP:0011227", "HP:0012378", "HP:0012514", "HP:0030766", "HP:0032230"], "RareDisease": ["OMIM:608710", "ORPHA:900"]}
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| 39 |
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{"Phenotype": ["HP:0000083", "HP:0000093", "HP:0000099", "HP:0000141", "HP:0000790", "HP:0001369", "HP:0001744", "HP:0001935", "HP:0002015", "HP:0002094", "HP:0002240", "HP:0003493", "HP:0003645", "HP:0004326", "HP:0012213", "HP:0012398", "HP:0031504", "HP:0032235", "HP:0045073", "HP:0100643"], "RareDisease": ["OMIM:152700", "OMIM:606579", "OMIM:609939", "OMIM:614420", "ORPHA:809", "ORPHA:93552"]}
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| 40 |
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{"Phenotype": ["HP:0000103", "HP:0000572", "HP:0000790", "HP:0000958", "HP:0001097", "HP:0001337", "HP:0002014", "HP:0002019", "HP:0002046", "HP:0002076", "HP:0002875", "HP:0003326", "HP:0003546", "HP:0011123", "HP:0012378", "HP:0012735", "HP:0030972", "HP:0032300", "HP:0410281"], "RareDisease": ["CCRD:56", "OMIM:228800", "ORPHA:49041"]}
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| 41 |
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{"Phenotype": ["HP:0000246", "HP:0000366", "HP:0000388", "HP:0001945", "HP:0002315", "HP:0003546", "HP:0030835", "HP:0030839"], "RareDisease": ["OMIM:608710", "ORPHA:900"]}
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| 42 |
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{"Phenotype": ["HP:0000772", "HP:0000939", "HP:0002650", "HP:0002829", "HP:0003124", "HP:0003282", "HP:0003326", "HP:0003394", "HP:0003418", "HP:0003493", "HP:0008422", "HP:0012184", "HP:0030839", "HP:0030840"], "RareDisease": ["CCRD:50", "OMIM:146300", "ORPHA:436"]}
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| 43 |
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{"Phenotype": ["HP:0000089", "HP:0000097", "HP:0000121", "HP:0001397", "HP:0001407", "HP:0001744", "HP:0001873", "HP:0002014", "HP:0002149", "HP:0002153", "HP:0003043", "HP:0003138", "HP:0003149", "HP:0003165", "HP:0003259", "HP:0003281", "HP:0003493", "HP:0003565", "HP:0005339", "HP:0012185", "HP:0012213", "HP:0012513", "HP:0012514", "HP:0012611", "HP:0020181", "HP:0025020", "HP:0030833", "HP:0030834", "HP:0030873", "HP:0100529"], "RareDisease": ["OMIM:181750", "ORPHA:90290"]}
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| 44 |
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{"Phenotype": ["HP:0000246", "HP:0000433", "HP:0000822", "HP:0000853", "HP:0001653", "HP:0001785", "HP:0001824", "HP:0001945", "HP:0002875", "HP:0003324", "HP:0003493", "HP:0003546", "HP:0004930", "HP:0010741", "HP:0011227", "HP:0012378", "HP:0012398", "HP:0012735", "HP:0025179", "HP:0030166", "HP:0030839", "HP:0030841", "HP:0031394", "HP:0100827"], "RareDisease": ["ORPHA:81"]}
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| 45 |
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{"Phenotype": ["HP:0001025", "HP:0001369", "HP:0001945", "HP:0003115", "HP:0005115", "HP:0008619", "HP:0011227", "HP:0025269", "HP:0030839"], "RareDisease": ["OMIM:120100", "OMIM:142680", "OMIM:191900", "OMIM:607115", "OMIM:611762", "OMIM:614468", "OMIM:616115", "ORPHA:1451", "ORPHA:32960", "ORPHA:47045", "ORPHA:575"]}
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| 46 |
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{"Phenotype": ["HP:0001063", "HP:0001780", "HP:0001945", "HP:0002240", "HP:0002625", "HP:0002633", "HP:0003419", "HP:0004326", "HP:0004420", "HP:0008940", "HP:0009098", "HP:0010287", "HP:0010783", "HP:0012378", "HP:0012398", "HP:0025203", "HP:0025238", "HP:0030242", "HP:0100758"], "RareDisease": ["OMIM:211480", "OMIM:615688", "ORPHA:36258", "ORPHA:767"]}
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| 47 |
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{"Phenotype": ["HP:0000421", "HP:0001824", "HP:0002076", "HP:0002321", "HP:0002633", "HP:0003326", "HP:0003546", "HP:0003565", "HP:0030766", "HP:0030833", "HP:0100546"], "RareDisease": ["OMIM:207600", "ORPHA:3287"]}
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| 48 |
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{"Phenotype": ["HP:0000083", "HP:0000155", "HP:0000366", "HP:0000377", "HP:0000766", "HP:0001041", "HP:0001635", "HP:0001649", "HP:0001659", "HP:0001962", "HP:0002149", "HP:0002202", "HP:0002716", "HP:0002907", "HP:0003149", "HP:0003326", "HP:0003418", "HP:0003546", "HP:0003565", "HP:0011227", "HP:0011713", "HP:0011911", "HP:0012317", "HP:0012378", "HP:0012611", "HP:0025238", "HP:0030835", "HP:0030840", "HP:0032154", "HP:0100686"], "RareDisease": ["ORPHA:728"]}
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| 49 |
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{"Phenotype": ["HP:0001138", "HP:0002910", "HP:0003124", "HP:0003141", "HP:0007042", "HP:0007663", "HP:0012756", "HP:0025343", "HP:0030833", "HP:0030948", "HP:0200149"], "RareDisease": ["OMIM:107320"]}
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| 50 |
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{"Phenotype": ["HP:0001824", "HP:0002829", "HP:0003259", "HP:0003493", "HP:0003546", "HP:0012378", "HP:0012452", "HP:0100643"], "RareDisease": ["CCRD:112", "OMIM:181750", "ORPHA:220393", "ORPHA:220402", "ORPHA:90290", "ORPHA:90291"]}
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| 51 |
-
{"Phenotype": ["HP:0000083", "HP:0000093", "HP:0000100", "HP:0000790", "HP:0000793", "HP:0000822", "HP:0000979", "HP:0001744", "HP:0001785", "HP:0001942", "HP:0002018", "HP:0002027", "HP:0002094", "HP:0002101", "HP:0002113", "HP:0002202", "HP:0002315", "HP:0003073", "HP:0003259", "HP:0003546", "HP:0004315", "HP:0004930", "HP:0005421", "HP:0008940", "HP:0011227", "HP:0025346", "HP:0030840", "HP:0031185", "HP:0032177", "HP:0045042", "HP:0100778"], "RareDisease": ["OMIM:123550", "ORPHA:91138"]}
|
| 52 |
-
{"Phenotype": ["HP:0000388", "HP:0000961", "HP:0001698", "HP:0001780", "HP:0002202", "HP:0002829", "HP:0009830", "HP:0011025", "HP:0100758"], "RareDisease": ["OMIM:608710", "ORPHA:900"]}
|
| 53 |
-
{"Phenotype": ["HP:0000821", "HP:0000989", "HP:0001081", "HP:0001575", "HP:0001644", "HP:0001662", "HP:0001735", "HP:0001824", "HP:0001972", "HP:0001974", "HP:0002018", "HP:0002371", "HP:0002546", "HP:0002633", "HP:0002870", "HP:0002925", "HP:0003115", "HP:0003165", "HP:0003493", "HP:0003565", "HP:0011227", "HP:0011709", "HP:0030948", "HP:0031588", "HP:0032210", "HP:0032229", "HP:0032300", "HP:0100546", "HP:0100646"], "RareDisease": ["CCRD:56", "OMIM:228800", "ORPHA:49041"]}
|
| 54 |
-
{"Phenotype": ["HP:0001155", "HP:0001824", "HP:0002910", "HP:0002923", "HP:0003281", "HP:0003565", "HP:0005339", "HP:0005413", "HP:0006248", "HP:0011227", "HP:0012513", "HP:0012534", "HP:0030833", "HP:0100545", "HP:0100778", "HP:0200041"], "RareDisease": ["OMIM:123550", "ORPHA:91138"]}
|
| 55 |
-
{"Phenotype": ["HP:0000967", "HP:0001873", "HP:0001974", "HP:0002315", "HP:0002633", "HP:0002910", "HP:0003262", "HP:0003493", "HP:0003565", "HP:0005421", "HP:0006562", "HP:0009830", "HP:0010741", "HP:0011227", "HP:0012378", "HP:0012514", "HP:0025238", "HP:0030167", "HP:0045042", "HP:0100643", "HP:0100778"], "RareDisease": ["OMIM:123550", "ORPHA:91138"]}
|
| 56 |
-
{"Phenotype": ["HP:0000031", "HP:0000509", "HP:0001701", "HP:0001744", "HP:0001824", "HP:0001945", "HP:0001974", "HP:0002014", "HP:0002027", "HP:0002815", "HP:0003073", "HP:0003216", "HP:0003259", "HP:0003565", "HP:0010783", "HP:0011227", "HP:0011956", "HP:0012378", "HP:0012596", "HP:0012597", "HP:0030166", "HP:0030838", "HP:0100016", "HP:0100539"], "RareDisease": ["OMIM:142680", "ORPHA:32960"]}
|
| 57 |
-
{"Phenotype": ["HP:0000138", "HP:0001397", "HP:0001744", "HP:0001945", "HP:0002829", "HP:0002875", "HP:0003326", "HP:0003546", "HP:0011227", "HP:0030166"], "RareDisease": ["CCRD:28", "OMIM:134610", "OMIM:249100", "ORPHA:342"]}
|
| 58 |
-
{"Phenotype": ["HP:0000017", "HP:0000107", "HP:0000138", "HP:0000975", "HP:0001041", "HP:0001386", "HP:0001397", "HP:0001541", "HP:0001649", "HP:0001735", "HP:0001780", "HP:0002013", "HP:0002014", "HP:0002018", "HP:0002059", "HP:0002094", "HP:0002102", "HP:0002149", "HP:0002155", "HP:0002202", "HP:0002240", "HP:0002829", "HP:0002896", "HP:0002923", "HP:0003124", "HP:0003149", "HP:0003281", "HP:0003326", "HP:0003418", "HP:0003496", "HP:0003546", "HP:0003573", "HP:0005197", "HP:0005339", "HP:0006163", "HP:0009726", "HP:0009830", "HP:0011227", "HP:0012611", "HP:0025346", "HP:0030833", "HP:0030834", "HP:0030837", "HP:0030948", "HP:0031226", "HP:0031520", "HP:0032300", "HP:0100512", "HP:0100643", "HP:0100785", "HP:0410367"], "RareDisease": ["ORPHA:81"]}
|
| 59 |
-
{"Phenotype": ["HP:0000093", "HP:0000245", "HP:0000377", "HP:0000433", "HP:0000790", "HP:0001063", "HP:0001785", "HP:0001903", "HP:0002910", "HP:0003259", "HP:0011227", "HP:0012213", "HP:0032230"], "RareDisease": ["OMIM:608710", "ORPHA:900"]}
|
| 60 |
-
{"Phenotype": ["HP:0000155", "HP:0000217", "HP:0000360", "HP:0000365", "HP:0000520", "HP:0000572", "HP:0000633", "HP:0000651", "HP:0000787", "HP:0001167", "HP:0001269", "HP:0001288", "HP:0001369", "HP:0001653", "HP:0001947", "HP:0001974", "HP:0002076", "HP:0002321", "HP:0002829", "HP:0002875", "HP:0002925", "HP:0003474", "HP:0003537", "HP:0003546", "HP:0011935", "HP:0030833", "HP:0032154", "HP:0100512", "HP:0200037", "HP:0200039"], "RareDisease": ["OMIM:106300", "OMIM:109650", "OMIM:183840", "ORPHA:117"]}
|
| 61 |
-
{"Phenotype": ["HP:0000246", "HP:0000822", "HP:0000958", "HP:0000980", "HP:0001894", "HP:0001903", "HP:0001920", "HP:0001945", "HP:0001974", "HP:0002013", "HP:0002027", "HP:0002094", "HP:0002754", "HP:0002910", "HP:0003138", "HP:0003237", "HP:0003259", "HP:0003418", "HP:0003493", "HP:0003546", "HP:0003565", "HP:0004396", "HP:0011097", "HP:0011227", "HP:0030157", "HP:0030948", "HP:0031030", "HP:0032483", "HP:0100016", "HP:0200034", "HP:0410019"], "RareDisease": ["OMIM:207600", "ORPHA:3287"]}
|
| 62 |
-
{"Phenotype": ["HP:0001397", "HP:0002385", "HP:0002817", "HP:0002910", "HP:0003115", "HP:0003236", "HP:0003259", "HP:0003326", "HP:0003493", "HP:0005110", "HP:0005145", "HP:0008978", "HP:0011713", "HP:0012213", "HP:0012596", "HP:0012597", "HP:0030167", "HP:0030948", "HP:0031185", "HP:0100545"], "RareDisease": ["ORPHA:171", "ORPHA:732"]}
|
| 63 |
-
{"Phenotype": ["HP:0000364", "HP:0000572", "HP:0000822", "HP:0000975", "HP:0001288", "HP:0001397", "HP:0001575", "HP:0001659", "HP:0001744", "HP:0002014", "HP:0002018", "HP:0002019", "HP:0002046", "HP:0002242", "HP:0002315", "HP:0002321", "HP:0002814", "HP:0002829", "HP:0002875", "HP:0002910", "HP:0003115", "HP:0003141", "HP:0003236", "HP:0003270", "HP:0003281", "HP:0003418", "HP:0003474", "HP:0003546", "HP:0004386", "HP:0004756", "HP:0005263", "HP:0006682", "HP:0011227", "HP:0011712", "HP:0011911", "HP:0012185", "HP:0012317", "HP:0012513", "HP:0012514", "HP:0012534", "HP:0025269", "HP:0030833", "HP:0030838", "HP:0031520", "HP:0031588", "HP:0100512", "HP:0100749", "HP:0100785"], "RareDisease": ["OMIM:106300", "OMIM:183840"]}
|
| 64 |
-
{"Phenotype": ["HP:0000853", "HP:0001081", "HP:0001369", "HP:0001600", "HP:0001679", "HP:0001894", "HP:0001903", "HP:0001945", "HP:0001974", "HP:0002240", "HP:0002242", "HP:0002829", "HP:0002910", "HP:0003072", "HP:0003155", "HP:0003326", "HP:0003546", "HP:0005413", "HP:0011227", "HP:0025022", "HP:0025289", "HP:0030166", "HP:0030839", "HP:0030948"], "RareDisease": ["OMIM:120100", "OMIM:191900", "OMIM:607115", "OMIM:611762", "OMIM:614468", "OMIM:616115", "ORPHA:1451", "ORPHA:47045", "ORPHA:575"]}
|
| 65 |
-
{"Phenotype": ["HP:0000083", "HP:0000089", "HP:0000097", "HP:0000821", "HP:0001903", "HP:0002014", "HP:0002153", "HP:0003073", "HP:0003138", "HP:0003165", "HP:0003259", "HP:0012213", "HP:0012595", "HP:0100512", "HP:0200034"], "RareDisease": ["CCRD:27", "OMIM:301500", "ORPHA:324"]}
|
| 66 |
-
{"Phenotype": ["HP:0000736", "HP:0001873", "HP:0001981", "HP:0002172", "HP:0002321", "HP:0002910", "HP:0003138", "HP:0003259", "HP:0003546", "HP:0007185", "HP:0008330", "HP:0012213", "HP:0020181", "HP:0025435", "HP:0032308", "HP:0100661"], "RareDisease": ["OMIM:274150", "ORPHA:54057"]}
|
| 67 |
-
{"Phenotype": ["HP:0000869", "HP:0001629", "HP:0001659", "HP:0001744", "HP:0001824", "HP:0001894", "HP:0001935", "HP:0001945", "HP:0001970", "HP:0002094", "HP:0002829", "HP:0003138", "HP:0003546", "HP:0003565", "HP:0005259", "HP:0011712", "HP:0012122", "HP:0012213", "HP:0012513", "HP:0012595", "HP:0012735", "HP:0030157", "HP:0030833", "HP:0031664", "HP:0100515", "HP:0100584"], "RareDisease": ["OMIM:607665"]}
|
| 68 |
-
{"Phenotype": ["HP:0000545", "HP:0000651", "HP:0000958", "HP:0001155", "HP:0001265", "HP:0001760", "HP:0001875", "HP:0002570", "HP:0002781", "HP:0002829", "HP:0002883", "HP:0003236", "HP:0006536", "HP:0007210", "HP:0012513", "HP:0012534", "HP:0025238", "HP:0040126", "HP:0100827", "HP:0410281"], "RareDisease": ["OMIM:133020", "ORPHA:90026"]}
|
| 69 |
-
{"Phenotype": ["HP:0000093", "HP:0000142", "HP:0000164", "HP:0000246", "HP:0000433", "HP:0000713", "HP:0000822", "HP:0001041", "HP:0001288", "HP:0001384", "HP:0001596", "HP:0001600", "HP:0001785", "HP:0001945", "HP:0001959", "HP:0001962", "HP:0002019", "HP:0002020", "HP:0002027", "HP:0002315", "HP:0002321", "HP:0002829", "HP:0002875", "HP:0002923", "HP:0003419", "HP:0003474", "HP:0003493", "HP:0005197", "HP:0006253", "HP:0006256", "HP:0007042", "HP:0010741", "HP:0011911", "HP:0012085", "HP:0012213", "HP:0012219", "HP:0012378", "HP:0012479", "HP:0012514", "HP:0012534", "HP:0030157", "HP:0030166", "HP:0030269", "HP:0030837", "HP:0030838", "HP:0030899", "HP:0031284", "HP:0031352", "HP:0031520", "HP:0040264", "HP:0100515", "HP:0100540", "HP:0100749", "HP:0410019"], "RareDisease": ["CCRD:112", "OMIM:181750", "ORPHA:220393", "ORPHA:220402", "ORPHA:732", "ORPHA:801", "ORPHA:90289", "ORPHA:90290", "ORPHA:90291"]}
|
| 70 |
-
{"Phenotype": ["HP:0000217", "HP:0000505", "HP:0001824", "HP:0001945", "HP:0002907", "HP:0002910", "HP:0003418", "HP:0003546", "HP:0003565", "HP:0004396", "HP:0010783", "HP:0011227", "HP:0011801", "HP:0012122", "HP:0012577", "HP:0012595", "HP:0025289", "HP:0030166", "HP:0200026"], "RareDisease": ["OMIM:181000", "OMIM:612387", "ORPHA:797"]}
|
| 71 |
-
{"Phenotype": ["HP:0000155", "HP:0002315", "HP:0002354", "HP:0002754", "HP:0002758", "HP:0002808", "HP:0002870", "HP:0003028", "HP:0003418", "HP:0008419", "HP:0030840", "HP:0032154", "HP:0200039"], "RareDisease": ["ORPHA:793"]}
|
| 72 |
-
{"Phenotype": ["HP:0000098", "HP:0000107", "HP:0000138", "HP:0000501", "HP:0000545", "HP:0001167", "HP:0001761", "HP:0001824", "HP:0002615", "HP:0002619", "HP:0002763", "HP:0002829", "HP:0002857", "HP:0002875", "HP:0002907", "HP:0004386", "HP:0005086", "HP:0005108", "HP:0005263", "HP:0007663", "HP:0010741", "HP:0030835", "HP:0030838", "HP:0030839", "HP:0031520", "HP:0032191"], "RareDisease": ["OMIM:108300", "OMIM:184840", "OMIM:604841", "OMIM:614134", "OMIM:614284", "ORPHA:166100", "ORPHA:250984", "ORPHA:828", "ORPHA:90653", "ORPHA:90654"]}
|
| 73 |
-
{"Phenotype": ["HP:0000083", "HP:0000100", "HP:0001698", "HP:0001701", "HP:0001903", "HP:0003259", "HP:0003493", "HP:0003546", "HP:0004431", "HP:0012378", "HP:0012596", "HP:0012597"], "RareDisease": ["OMIM:152700", "OMIM:606579", "OMIM:609939", "OMIM:614420", "ORPHA:93552"]}
|
| 74 |
-
{"Phenotype": ["HP:0000142", "HP:0000155", "HP:0000217", "HP:0001097", "HP:0001167", "HP:0002014", "HP:0002027", "HP:0002240", "HP:0002315", "HP:0002814", "HP:0002829", "HP:0002896", "HP:0003124", "HP:0003282", "HP:0003474", "HP:0003546", "HP:0004326", "HP:0005263", "HP:0007042", "HP:0010784", "HP:0010876", "HP:0012514", "HP:0012534", "HP:0030057", "HP:0030140", "HP:0030166", "HP:0032483", "HP:0100633", "HP:0100643"], "RareDisease": ["OMIM:270150"]}
|
| 75 |
-
{"Phenotype": ["HP:0000821", "HP:0001744", "HP:0001888", "HP:0001935", "HP:0001945", "HP:0002018", "HP:0002094", "HP:0002102", "HP:0002202", "HP:0002901", "HP:0004396", "HP:0010931", "HP:0011227", "HP:0011703", "HP:0012378", "HP:0025143", "HP:0025435", "HP:0030160", "HP:0100749"], "RareDisease": ["CCRD:28", "OMIM:134610", "OMIM:249100", "ORPHA:342"]}
|
| 76 |
-
{"Phenotype": ["HP:0000365", "HP:0001288", "HP:0001397", "HP:0001407", "HP:0001698", "HP:0001744", "HP:0002088", "HP:0002240", "HP:0002385", "HP:0003474", "HP:0012384", "HP:0012514", "HP:0030423", "HP:0032230", "HP:0100785"], "RareDisease": ["OMIM:608710", "ORPHA:900"]}
|
| 77 |
-
{"Phenotype": ["HP:0000107", "HP:0000121", "HP:0001288", "HP:0001369", "HP:0001744", "HP:0001875", "HP:0001882", "HP:0001913", "HP:0001935", "HP:0002148", "HP:0002240", "HP:0002315", "HP:0002321", "HP:0002716", "HP:0002814", "HP:0002875", "HP:0003418", "HP:0003546", "HP:0003565", "HP:0004418", "HP:0005108", "HP:0005268", "HP:0006256", "HP:0006261", "HP:0007210", "HP:0010287", "HP:0012513", "HP:0012514", "HP:0012534", "HP:0025238", "HP:0030833", "HP:0030836", "HP:0030837", "HP:0030838", "HP:0030839", "HP:0030840"], "RareDisease": ["OMIM:134750", "ORPHA:47612"]}
|
| 78 |
-
{"Phenotype": ["HP:0000365", "HP:0000822", "HP:0002105", "HP:0002315", "HP:0002829", "HP:0012384", "HP:0030836", "HP:0030839", "HP:0030840"], "RareDisease": ["OMIM:608710", "ORPHA:900"]}
|
| 79 |
-
{"Phenotype": ["HP:0000083", "HP:0000366", "HP:0000377", "HP:0000572", "HP:0000938", "HP:0001041", "HP:0001167", "HP:0001225", "HP:0001780", "HP:0001880", "HP:0001935", "HP:0003546", "HP:0009129", "HP:0010741", "HP:0011911", "HP:0025238", "HP:0030834", "HP:0100534", "HP:0100758"], "RareDisease": ["ORPHA:728"]}
|
| 80 |
-
{"Phenotype": ["HP:0000766", "HP:0001974", "HP:0002094", "HP:0002754", "HP:0002758", "HP:0003565", "HP:0011227", "HP:0100749", "HP:0100774"], "RareDisease": ["ORPHA:793"]}
|
| 81 |
-
{"Phenotype": ["HP:0000223", "HP:0000793", "HP:0000967", "HP:0002315", "HP:0012378"], "RareDisease": ["ORPHA:761"]}
|
| 82 |
-
{"Phenotype": ["HP:0000217", "HP:0000858", "HP:0001097", "HP:0001882", "HP:0002014", "HP:0020181", "HP:0030057"], "RareDisease": ["OMIM:152700", "OMIM:270150", "OMIM:606579", "OMIM:609939", "OMIM:614420", "ORPHA:93552"]}
|
| 83 |
-
{"Phenotype": ["HP:0000246", "HP:0001880", "HP:0002094", "HP:0002113", "HP:0002583", "HP:0002910", "HP:0003212", "HP:0003236", "HP:0009098", "HP:0011227", "HP:0011897", "HP:0012213", "HP:0012387", "HP:0025066", "HP:0025392", "HP:0030057", "HP:0030877", "HP:0032300", "HP:0100512", "HP:0100582"], "RareDisease": ["ORPHA:183"]}
|
| 84 |
-
{"Phenotype": ["HP:0002633", "HP:0003565", "HP:0011227", "HP:0012273", "HP:0012378", "HP:0025289", "HP:0030833"], "RareDisease": ["OMIM:207600", "ORPHA:3287"]}
|
| 85 |
-
{"Phenotype": ["HP:0000953", "HP:0001894", "HP:0001897", "HP:0001945", "HP:0002659", "HP:0002910", "HP:0003155", "HP:0003261", "HP:0003326", "HP:0003565", "HP:0005180", "HP:0011120", "HP:0011227", "HP:0012735", "HP:0025392", "HP:0025547", "HP:0030313", "HP:0030840", "HP:0030948", "HP:0032230", "HP:0100827"], "RareDisease": ["OMIM:608710", "ORPHA:900"]}
|
| 86 |
-
{"Phenotype": ["HP:0001061", "HP:0001649", "HP:0001712", "HP:0001962", "HP:0002829", "HP:0003115", "HP:0004342", "HP:0007514", "HP:0012513", "HP:0025131", "HP:0030837", "HP:0030839", "HP:0030840", "HP:0200034"], "RareDisease": ["CCRD:27", "OMIM:301500", "ORPHA:324"]}
|
| 87 |
-
{"Phenotype": ["HP:0001167", "HP:0001225", "HP:0001369", "HP:0001386", "HP:0001397", "HP:0001600", "HP:0001707", "HP:0001780", "HP:0001785", "HP:0001824", "HP:0001945", "HP:0002027", "HP:0002092", "HP:0002149", "HP:0002592", "HP:0002815", "HP:0002829", "HP:0003149", "HP:0003326", "HP:0003401", "HP:0003418", "HP:0003493", "HP:0003546", "HP:0003565", "HP:0004396", "HP:0005197", "HP:0005202", "HP:0010741", "HP:0011227", "HP:0011956", "HP:0012185", "HP:0012398", "HP:0012611", "HP:0025230", "HP:0030157", "HP:0030166", "HP:0030836", "HP:0030838", "HP:0030839", "HP:0030840", "HP:0030841", "HP:0030948", "HP:0100016", "HP:0410019"], "RareDisease": ["ORPHA:3452"]}
|
| 88 |
-
{"Phenotype": ["HP:0000010", "HP:0000979", "HP:0001945", "HP:0001974", "HP:0002633", "HP:0010741", "HP:0012514", "HP:0031520"], "RareDisease": ["ORPHA:761"]}
|
|
|
|
| 1 |
+
{"Phenotype": ["HP:0001225", "HP:0001382", "HP:0001443", "HP:0001894", "HP:0001974", "HP:0003419", "HP:0025238", "HP:0030833", "HP:0030834", "HP:0030835", "HP:0030836", "HP:0030839"], "RareDisease": ["OMIM:106300"], "Department": null}
|
| 2 |
+
{"Phenotype": ["HP:0000793", "HP:0001974", "HP:0002205", "HP:0002633", "HP:0003496", "HP:0100778"], "RareDisease": ["OMIM:123550", "ORPHA:91138"], "Department": null}
|
| 3 |
+
{"Phenotype": ["HP:0000155", "HP:0000246", "HP:0000360", "HP:0000365", "HP:0000572", "HP:0000651", "HP:0000787", "HP:0000790", "HP:0001097", "HP:0001155", "HP:0001279", "HP:0001369", "HP:0001880", "HP:0001947", "HP:0002018", "HP:0002027", "HP:0002150", "HP:0002315", "HP:0002321", "HP:0002653", "HP:0002875", "HP:0003236", "HP:0003326", "HP:0003401", "HP:0003418", "HP:0003474", "HP:0003537", "HP:0004411", "HP:0005197", "HP:0009763", "HP:0011935", "HP:0012378", "HP:0012595", "HP:0030140", "HP:0030833", "HP:0030836", "HP:0030840", "HP:0032154", "HP:0100749", "HP:0100827", "HP:0200034", "HP:0200039", "HP:0410019"], "RareDisease": ["OMIM:109650", "ORPHA:117"], "Department": null}
|
| 4 |
+
{"Phenotype": ["HP:0000421", "HP:0002105", "HP:0002113", "HP:0002829", "HP:0002907", "HP:0011227", "HP:0012213", "HP:0032230"], "RareDisease": ["OMIM:608710", "ORPHA:900"], "Department": null}
|
| 5 |
+
{"Phenotype": ["HP:0000093", "HP:0001541", "HP:0001735", "HP:0001744", "HP:0001876", "HP:0001945", "HP:0002014", "HP:0002027", "HP:0002586", "HP:0002829", "HP:0003236", "HP:0003324", "HP:0003326", "HP:0003493", "HP:0003546", "HP:0011106", "HP:0012378", "HP:0025435", "HP:0030010", "HP:0410019"], "RareDisease": ["OMIM:152700", "OMIM:606579", "OMIM:609939", "OMIM:614420", "ORPHA:93552"], "Department": null}
|
| 6 |
+
{"Phenotype": ["HP:0000083", "HP:0000093", "HP:0000099", "HP:0000107", "HP:0000554", "HP:0001369", "HP:0001888", "HP:0002204", "HP:0002625", "HP:0002907", "HP:0003225", "HP:0003493", "HP:0005584", "HP:0030839", "HP:0032376"], "RareDisease": ["OMIM:144700", "OMIM:152700", "OMIM:300854", "OMIM:605074", "OMIM:606579", "OMIM:609939", "OMIM:614420", "ORPHA:93552"], "Department": null}
|
| 7 |
+
{"Phenotype": ["HP:0000089", "HP:0000107", "HP:0000217", "HP:0001407", "HP:0001785", "HP:0001962", "HP:0002015", "HP:0002018", "HP:0002020", "HP:0002027", "HP:0002036", "HP:0002110", "HP:0002321", "HP:0003138", "HP:0003165", "HP:0003236", "HP:0003259", "HP:0003418", "HP:0003565", "HP:0006682", "HP:0009098", "HP:0011227", "HP:0011897", "HP:0012213", "HP:0012378", "HP:0012387", "HP:0012514", "HP:0025179", "HP:0025392", "HP:0030057", "HP:0030830", "HP:0030877", "HP:0032017", "HP:0045051", "HP:0100643", "HP:0410019"], "RareDisease": ["OMIM:270150"], "Department": null}
|
| 8 |
+
{"Phenotype": ["HP:0000271", "HP:0000975", "HP:0000980", "HP:0001279", "HP:0001824", "HP:0001974", "HP:0002013", "HP:0002018", "HP:0002315", "HP:0003546", "HP:0003565", "HP:0012378", "HP:0012531", "HP:0025143", "HP:0030164"], "RareDisease": ["OMIM:187360", "ORPHA:397"], "Department": null}
|
| 9 |
+
{"Phenotype": ["HP:0000540", "HP:0000554", "HP:0001097", "HP:0001443", "HP:0002808", "HP:0002907", "HP:0003418", "HP:0005197", "HP:0100512"], "RareDisease": ["OMIM:106300", "OMIM:183840"], "Department": null}
|
| 10 |
+
{"Phenotype": ["HP:0000083", "HP:0000366", "HP:0000989", "HP:0001639", "HP:0001644", "HP:0001698", "HP:0001712", "HP:0001945", "HP:0002094", "HP:0010876", "HP:0012213", "HP:0012378", "HP:0012664", "HP:0012735", "HP:0012819", "HP:0032017"], "RareDisease": ["OMIM:207600", "ORPHA:3287"], "Department": null}
|
| 11 |
+
{"Phenotype": ["HP:0000012", "HP:0000246", "HP:0001649", "HP:0001945", "HP:0001974", "HP:0002105", "HP:0002202", "HP:0003115", "HP:0005110", "HP:0011227", "HP:0012735", "HP:0020181", "HP:0025392", "HP:0100534", "HP:0100749"], "RareDisease": ["OMIM:608710", "ORPHA:900"], "Department": null}
|
| 12 |
+
{"Phenotype": ["HP:0000217", "HP:0000633", "HP:0001167", "HP:0001225", "HP:0001760", "HP:0001935", "HP:0002076", "HP:0002815", "HP:0002829", "HP:0002923", "HP:0003212", "HP:0003237", "HP:0003326", "HP:0003394", "HP:0003493", "HP:0004386", "HP:0005197", "HP:0005263", "HP:0011911", "HP:0030836", "HP:0030839", "HP:0030840", "HP:0032235", "HP:0032308"], "RareDisease": ["OMIM:270150", "ORPHA:29207", "ORPHA:85408", "ORPHA:85414", "ORPHA:85435"], "Department": null}
|
| 13 |
+
{"Phenotype": ["HP:0000097", "HP:0001065", "HP:0002149", "HP:0002155", "HP:0002907", "HP:0002910", "HP:0003073", "HP:0003124", "HP:0003138", "HP:0003149", "HP:0003565", "HP:0005413", "HP:0007390", "HP:0009741", "HP:0010783", "HP:0010931", "HP:0011227", "HP:0012213", "HP:0012595", "HP:0012611", "HP:0100515"], "RareDisease": ["OMIM:603278", "OMIM:603965", "OMIM:607832", "OMIM:612551", "OMIM:613237", "OMIM:614131", "OMIM:616002", "OMIM:616032", "OMIM:616220"], "Department": null}
|
| 14 |
+
{"Phenotype": ["HP:0000155", "HP:0000246", "HP:0000433", "HP:0001894", "HP:0001945", "HP:0001974", "HP:0002094", "HP:0002815", "HP:0003155", "HP:0003565", "HP:0005413", "HP:0011227", "HP:0012219", "HP:0025289", "HP:0030948", "HP:0032118", "HP:0032154", "HP:0100721", "HP:0100749"], "RareDisease": ["OMIM:109650", "ORPHA:117"], "Department": null}
|
| 15 |
+
{"Phenotype": ["HP:0000083", "HP:0000099", "HP:0000246", "HP:0000366", "HP:0000509", "HP:0001945", "HP:0002105", "HP:0003546", "HP:0012735", "HP:0030834", "HP:0030835", "HP:0030839", "HP:0040223", "HP:0100520"], "RareDisease": ["OMIM:608710", "ORPHA:900"], "Department": null}
|
| 16 |
+
{"Phenotype": ["HP:0000083", "HP:0000107", "HP:0000572", "HP:0000822", "HP:0000979", "HP:0001397", "HP:0001407", "HP:0001970", "HP:0002018", "HP:0002088", "HP:0002094", "HP:0002315", "HP:0002907", "HP:0009741", "HP:0012085", "HP:0012378", "HP:0012398", "HP:0012461", "HP:0012594", "HP:0012735", "HP:0031812", "HP:0100721"], "RareDisease": ["OMIM:181000", "OMIM:612387", "ORPHA:797"], "Department": null}
|
| 17 |
+
{"Phenotype": ["HP:0000100", "HP:0000366", "HP:0000790", "HP:0000793", "HP:0000979", "HP:0001225", "HP:0002094", "HP:0002155", "HP:0003124", "HP:0004324", "HP:0010741", "HP:0012398", "HP:0012596", "HP:0012597", "HP:0031504"], "RareDisease": ["ORPHA:761"], "Department": null}
|
| 18 |
+
{"Phenotype": ["HP:0000164", "HP:0001596", "HP:0002659", "HP:0003282", "HP:0004322", "HP:0005268", "HP:0012378", "HP:0012514", "HP:0031456"], "RareDisease": ["CCRD:50", "OMIM:146300", "ORPHA:436"], "Department": null}
|
| 19 |
+
{"Phenotype": ["HP:0000265", "HP:0000365", "HP:0000666", "HP:0000858", "HP:0001649", "HP:0001785", "HP:0001824", "HP:0001962", "HP:0002321", "HP:0005421", "HP:0010628", "HP:0030057", "HP:0045042", "HP:0200097"], "RareDisease": ["OMIM:181000", "OMIM:612387", "ORPHA:797"], "Department": null}
|
| 20 |
+
{"Phenotype": ["HP:0000246", "HP:0000520", "HP:0000651", "HP:0000822", "HP:0001144", "HP:0001653", "HP:0001659", "HP:0001712", "HP:0002155", "HP:0002240", "HP:0002896", "HP:0003124", "HP:0005180", "HP:0012213", "HP:0012246", "HP:0032300", "HP:0100540"], "RareDisease": ["CCRD:56", "OMIM:228800", "ORPHA:49041"], "Department": null}
|
| 21 |
+
{"Phenotype": ["HP:0000365", "HP:0001649", "HP:0001744", "HP:0001945", "HP:0002153", "HP:0002321", "HP:0002850", "HP:0003072", "HP:0003115", "HP:0003565", "HP:0005339", "HP:0011227", "HP:0011788", "HP:0025238", "HP:0030835", "HP:0030836", "HP:0030838", "HP:0030839"], "RareDisease": ["OMIM:120100", "OMIM:191900", "OMIM:607115", "OMIM:611762", "OMIM:614468", "OMIM:616115", "ORPHA:1451", "ORPHA:47045", "ORPHA:575"], "Department": null}
|
| 22 |
+
{"Phenotype": ["HP:0000010", "HP:0000230", "HP:0000282", "HP:0000421", "HP:0000975", "HP:0001600", "HP:0001824", "HP:0001880", "HP:0001935", "HP:0002105", "HP:0002113", "HP:0002153", "HP:0002875", "HP:0003546", "HP:0008221", "HP:0010287", "HP:0010628", "HP:0011227", "HP:0012378", "HP:0012398", "HP:0025289", "HP:0025392", "HP:0030001", "HP:0030835", "HP:0030839", "HP:0031098", "HP:0031292", "HP:0032230", "HP:0100631"], "RareDisease": ["OMIM:181000", "OMIM:612387", "ORPHA:797"], "Department": null}
|
| 23 |
+
{"Phenotype": ["HP:0000036", "HP:0000155", "HP:0000421", "HP:0000554", "HP:0000572", "HP:0000790", "HP:0000822", "HP:0001369", "HP:0001785", "HP:0002027", "HP:0002380", "HP:0002829", "HP:0002910", "HP:0002922", "HP:0003236", "HP:0003259", "HP:0003326", "HP:0003394", "HP:0003416", "HP:0003418", "HP:0003474", "HP:0007042", "HP:0009027", "HP:0010280", "HP:0011911", "HP:0012378", "HP:0012534", "HP:0025435", "HP:0030948", "HP:0032101", "HP:0032154", "HP:0100518", "HP:0410019"], "RareDisease": ["OMIM:109650", "ORPHA:117"], "Department": null}
|
| 24 |
+
{"Phenotype": ["HP:0000989", "HP:0001649", "HP:0001785", "HP:0001824", "HP:0001888", "HP:0001903", "HP:0001945", "HP:0001974", "HP:0002815", "HP:0003073", "HP:0003115", "HP:0003236", "HP:0003326", "HP:0003458", "HP:0003493", "HP:0003546", "HP:0003565", "HP:0005197", "HP:0005413", "HP:0006163", "HP:0010783", "HP:0011227", "HP:0011897", "HP:0012514", "HP:0012735", "HP:0025131", "HP:0030167", "HP:0032232", "HP:0100614", "HP:0100643", "HP:0410174"], "RareDisease": ["ORPHA:81"], "Department": null}
|
| 25 |
+
{"Phenotype": ["HP:0000961", "HP:0001397", "HP:0001880", "HP:0002113", "HP:0002716", "HP:0002910", "HP:0003124", "HP:0003165", "HP:0003212", "HP:0011799", "HP:0030057", "HP:0030948"], "RareDisease": ["ORPHA:482"], "Department": null}
|
| 26 |
+
{"Phenotype": ["HP:0000246", "HP:0001880", "HP:0002094", "HP:0002113", "HP:0003212", "HP:0025392", "HP:0030057", "HP:0100582"], "RareDisease": ["ORPHA:183"], "Department": null}
|
| 27 |
+
{"Phenotype": ["HP:0000155", "HP:0000853", "HP:0001369", "HP:0001600", "HP:0001903", "HP:0001962", "HP:0002020", "HP:0002315", "HP:0002380", "HP:0002385", "HP:0002815", "HP:0002829", "HP:0003326", "HP:0003445", "HP:0003474", "HP:0003493", "HP:0005421", "HP:0006261", "HP:0010876", "HP:0011712", "HP:0011717", "HP:0011911", "HP:0012513", "HP:0012534", "HP:0030833", "HP:0030835", "HP:0030837", "HP:0030839", "HP:0031731", "HP:0032154", "HP:0100643", "HP:0410281"], "RareDisease": ["ORPHA:81"], "Department": null}
|
| 28 |
+
{"Phenotype": ["HP:0000245", "HP:0000421", "HP:0000433", "HP:0002105", "HP:0025095", "HP:0030835", "HP:0030839", "HP:0030840"], "RareDisease": ["OMIM:608710", "ORPHA:900"], "Department": null}
|
| 29 |
+
{"Phenotype": ["HP:0001397", "HP:0001945", "HP:0001974", "HP:0002020", "HP:0002240", "HP:0002896", "HP:0002910", "HP:0003418", "HP:0003546", "HP:0005165", "HP:0005197", "HP:0008775", "HP:0011227", "HP:0012317", "HP:0012378", "HP:0030830", "HP:0030835", "HP:0030839", "HP:0030948", "HP:0031352", "HP:0045051", "HP:0045073", "HP:0100749", "HP:0200041"], "RareDisease": ["OMIM:106300", "OMIM:183840"], "Department": null}
|
| 30 |
+
{"Phenotype": ["HP:0001974", "HP:0002754", "HP:0003565", "HP:0011227", "HP:0030793", "HP:0040264", "HP:0100774", "HP:0100847"], "RareDisease": ["ORPHA:793"], "Department": null}
|
| 31 |
+
{"Phenotype": ["HP:0002814", "HP:0002907", "HP:0003236", "HP:0003401", "HP:0003565", "HP:0008151", "HP:0011227", "HP:0012733", "HP:0045042", "HP:0200041"], "RareDisease": ["OMIM:615688", "ORPHA:767"], "Department": null}
|
| 32 |
+
{"Phenotype": ["HP:0001824", "HP:0001882", "HP:0002094", "HP:0002321", "HP:0003236", "HP:0003546", "HP:0025179", "HP:0025238", "HP:0030057", "HP:0045051"], "RareDisease": ["ORPHA:81"], "Department": null}
|
| 33 |
+
{"Phenotype": ["HP:0000072", "HP:0001744", "HP:0003259", "HP:0004942", "HP:0005200", "HP:0008714", "HP:0011227", "HP:0030150", "HP:0030423", "HP:0032300", "HP:0100581"], "RareDisease": ["ORPHA:49041"], "Department": null}
|
| 34 |
+
{"Phenotype": ["HP:0000017", "HP:0001600", "HP:0001824", "HP:0001873", "HP:0001903", "HP:0001945", "HP:0001974", "HP:0002315", "HP:0002923", "HP:0003165", "HP:0003262", "HP:0003326", "HP:0005339", "HP:0010931", "HP:0011227", "HP:0012213", "HP:0012514", "HP:0012664", "HP:0030155", "HP:0030166", "HP:0030948", "HP:0031520", "HP:0032300", "HP:0100512", "HP:0100614"], "RareDisease": ["ORPHA:732"], "Department": null}
|
| 35 |
+
{"Phenotype": ["HP:0000010", "HP:0001155", "HP:0001225", "HP:0001443", "HP:0001882", "HP:0001935", "HP:0001943", "HP:0002315", "HP:0002321", "HP:0003401", "HP:0003416", "HP:0003418", "HP:0003474", "HP:0003565", "HP:0005197", "HP:0005421", "HP:0006979", "HP:0011227", "HP:0012317", "HP:0012513", "HP:0025230", "HP:0030834", "HP:0030836", "HP:0030839", "HP:0031185", "HP:0100686"], "RareDisease": ["OMIM:106300", "OMIM:183840"], "Department": null}
|
| 36 |
+
{"Phenotype": ["HP:0000103", "HP:0001061", "HP:0001959", "HP:0002315", "HP:0002815", "HP:0002829", "HP:0003236", "HP:0005197", "HP:0011911", "HP:0012378", "HP:0025238", "HP:0030835", "HP:0030836", "HP:0030839", "HP:0030841", "HP:0032300"], "RareDisease": ["CCRD:28", "OMIM:134610", "OMIM:249100", "ORPHA:29207", "ORPHA:342", "ORPHA:85408", "ORPHA:85414", "ORPHA:85435"], "Department": null}
|
| 37 |
+
{"Phenotype": ["HP:0000155", "HP:0000651", "HP:0001167", "HP:0001279", "HP:0001369", "HP:0001945", "HP:0001974", "HP:0002315", "HP:0002907", "HP:0003043", "HP:0003249", "HP:0003326", "HP:0003401", "HP:0003418", "HP:0003474", "HP:0003546", "HP:0003565", "HP:0005413", "HP:0011227", "HP:0011706", "HP:0012378", "HP:0012574", "HP:0012595", "HP:0030837", "HP:0032154", "HP:0032308"], "RareDisease": ["CCRD:28", "OMIM:109650", "OMIM:134610", "OMIM:249100", "ORPHA:117", "ORPHA:342"], "Department": null}
|
| 38 |
+
{"Phenotype": ["HP:0000365", "HP:0000421", "HP:0001288", "HP:0001945", "HP:0003326", "HP:0011227", "HP:0012378", "HP:0012514", "HP:0030766", "HP:0032230"], "RareDisease": ["OMIM:608710", "ORPHA:900"], "Department": null}
|
| 39 |
+
{"Phenotype": ["HP:0000083", "HP:0000093", "HP:0000099", "HP:0000141", "HP:0000790", "HP:0001369", "HP:0001744", "HP:0001935", "HP:0002015", "HP:0002094", "HP:0002240", "HP:0003493", "HP:0003645", "HP:0004326", "HP:0012213", "HP:0012398", "HP:0031504", "HP:0032235", "HP:0045073", "HP:0100643"], "RareDisease": ["OMIM:152700", "OMIM:606579", "OMIM:609939", "OMIM:614420", "ORPHA:809", "ORPHA:93552"], "Department": null}
|
| 40 |
+
{"Phenotype": ["HP:0000103", "HP:0000572", "HP:0000790", "HP:0000958", "HP:0001097", "HP:0001337", "HP:0002014", "HP:0002019", "HP:0002046", "HP:0002076", "HP:0002875", "HP:0003326", "HP:0003546", "HP:0011123", "HP:0012378", "HP:0012735", "HP:0030972", "HP:0032300", "HP:0410281"], "RareDisease": ["CCRD:56", "OMIM:228800", "ORPHA:49041"], "Department": null}
|
| 41 |
+
{"Phenotype": ["HP:0000246", "HP:0000366", "HP:0000388", "HP:0001945", "HP:0002315", "HP:0003546", "HP:0030835", "HP:0030839"], "RareDisease": ["OMIM:608710", "ORPHA:900"], "Department": null}
|
| 42 |
+
{"Phenotype": ["HP:0000772", "HP:0000939", "HP:0002650", "HP:0002829", "HP:0003124", "HP:0003282", "HP:0003326", "HP:0003394", "HP:0003418", "HP:0003493", "HP:0008422", "HP:0012184", "HP:0030839", "HP:0030840"], "RareDisease": ["CCRD:50", "OMIM:146300", "ORPHA:436"], "Department": null}
|
| 43 |
+
{"Phenotype": ["HP:0000089", "HP:0000097", "HP:0000121", "HP:0001397", "HP:0001407", "HP:0001744", "HP:0001873", "HP:0002014", "HP:0002149", "HP:0002153", "HP:0003043", "HP:0003138", "HP:0003149", "HP:0003165", "HP:0003259", "HP:0003281", "HP:0003493", "HP:0003565", "HP:0005339", "HP:0012185", "HP:0012213", "HP:0012513", "HP:0012514", "HP:0012611", "HP:0020181", "HP:0025020", "HP:0030833", "HP:0030834", "HP:0030873", "HP:0100529"], "RareDisease": ["OMIM:181750", "ORPHA:90290"], "Department": null}
|
| 44 |
+
{"Phenotype": ["HP:0000246", "HP:0000433", "HP:0000822", "HP:0000853", "HP:0001653", "HP:0001785", "HP:0001824", "HP:0001945", "HP:0002875", "HP:0003324", "HP:0003493", "HP:0003546", "HP:0004930", "HP:0010741", "HP:0011227", "HP:0012378", "HP:0012398", "HP:0012735", "HP:0025179", "HP:0030166", "HP:0030839", "HP:0030841", "HP:0031394", "HP:0100827"], "RareDisease": ["ORPHA:81"], "Department": null}
|
| 45 |
+
{"Phenotype": ["HP:0001025", "HP:0001369", "HP:0001945", "HP:0003115", "HP:0005115", "HP:0008619", "HP:0011227", "HP:0025269", "HP:0030839"], "RareDisease": ["OMIM:120100", "OMIM:142680", "OMIM:191900", "OMIM:607115", "OMIM:611762", "OMIM:614468", "OMIM:616115", "ORPHA:1451", "ORPHA:32960", "ORPHA:47045", "ORPHA:575"], "Department": null}
|
| 46 |
+
{"Phenotype": ["HP:0001063", "HP:0001780", "HP:0001945", "HP:0002240", "HP:0002625", "HP:0002633", "HP:0003419", "HP:0004326", "HP:0004420", "HP:0008940", "HP:0009098", "HP:0010287", "HP:0010783", "HP:0012378", "HP:0012398", "HP:0025203", "HP:0025238", "HP:0030242", "HP:0100758"], "RareDisease": ["OMIM:211480", "OMIM:615688", "ORPHA:36258", "ORPHA:767"], "Department": null}
|
| 47 |
+
{"Phenotype": ["HP:0000421", "HP:0001824", "HP:0002076", "HP:0002321", "HP:0002633", "HP:0003326", "HP:0003546", "HP:0003565", "HP:0030766", "HP:0030833", "HP:0100546"], "RareDisease": ["OMIM:207600", "ORPHA:3287"], "Department": null}
|
| 48 |
+
{"Phenotype": ["HP:0000083", "HP:0000155", "HP:0000366", "HP:0000377", "HP:0000766", "HP:0001041", "HP:0001635", "HP:0001649", "HP:0001659", "HP:0001962", "HP:0002149", "HP:0002202", "HP:0002716", "HP:0002907", "HP:0003149", "HP:0003326", "HP:0003418", "HP:0003546", "HP:0003565", "HP:0011227", "HP:0011713", "HP:0011911", "HP:0012317", "HP:0012378", "HP:0012611", "HP:0025238", "HP:0030835", "HP:0030840", "HP:0032154", "HP:0100686"], "RareDisease": ["ORPHA:728"], "Department": null}
|
| 49 |
+
{"Phenotype": ["HP:0001138", "HP:0002910", "HP:0003124", "HP:0003141", "HP:0007042", "HP:0007663", "HP:0012756", "HP:0025343", "HP:0030833", "HP:0030948", "HP:0200149"], "RareDisease": ["OMIM:107320"], "Department": null}
|
| 50 |
+
{"Phenotype": ["HP:0001824", "HP:0002829", "HP:0003259", "HP:0003493", "HP:0003546", "HP:0012378", "HP:0012452", "HP:0100643"], "RareDisease": ["CCRD:112", "OMIM:181750", "ORPHA:220393", "ORPHA:220402", "ORPHA:90290", "ORPHA:90291"], "Department": null}
|
| 51 |
+
{"Phenotype": ["HP:0000083", "HP:0000093", "HP:0000100", "HP:0000790", "HP:0000793", "HP:0000822", "HP:0000979", "HP:0001744", "HP:0001785", "HP:0001942", "HP:0002018", "HP:0002027", "HP:0002094", "HP:0002101", "HP:0002113", "HP:0002202", "HP:0002315", "HP:0003073", "HP:0003259", "HP:0003546", "HP:0004315", "HP:0004930", "HP:0005421", "HP:0008940", "HP:0011227", "HP:0025346", "HP:0030840", "HP:0031185", "HP:0032177", "HP:0045042", "HP:0100778"], "RareDisease": ["OMIM:123550", "ORPHA:91138"], "Department": null}
|
| 52 |
+
{"Phenotype": ["HP:0000388", "HP:0000961", "HP:0001698", "HP:0001780", "HP:0002202", "HP:0002829", "HP:0009830", "HP:0011025", "HP:0100758"], "RareDisease": ["OMIM:608710", "ORPHA:900"], "Department": null}
|
| 53 |
+
{"Phenotype": ["HP:0000821", "HP:0000989", "HP:0001081", "HP:0001575", "HP:0001644", "HP:0001662", "HP:0001735", "HP:0001824", "HP:0001972", "HP:0001974", "HP:0002018", "HP:0002371", "HP:0002546", "HP:0002633", "HP:0002870", "HP:0002925", "HP:0003115", "HP:0003165", "HP:0003493", "HP:0003565", "HP:0011227", "HP:0011709", "HP:0030948", "HP:0031588", "HP:0032210", "HP:0032229", "HP:0032300", "HP:0100546", "HP:0100646"], "RareDisease": ["CCRD:56", "OMIM:228800", "ORPHA:49041"], "Department": null}
|
| 54 |
+
{"Phenotype": ["HP:0001155", "HP:0001824", "HP:0002910", "HP:0002923", "HP:0003281", "HP:0003565", "HP:0005339", "HP:0005413", "HP:0006248", "HP:0011227", "HP:0012513", "HP:0012534", "HP:0030833", "HP:0100545", "HP:0100778", "HP:0200041"], "RareDisease": ["OMIM:123550", "ORPHA:91138"], "Department": null}
|
| 55 |
+
{"Phenotype": ["HP:0000967", "HP:0001873", "HP:0001974", "HP:0002315", "HP:0002633", "HP:0002910", "HP:0003262", "HP:0003493", "HP:0003565", "HP:0005421", "HP:0006562", "HP:0009830", "HP:0010741", "HP:0011227", "HP:0012378", "HP:0012514", "HP:0025238", "HP:0030167", "HP:0045042", "HP:0100643", "HP:0100778"], "RareDisease": ["OMIM:123550", "ORPHA:91138"], "Department": null}
|
| 56 |
+
{"Phenotype": ["HP:0000031", "HP:0000509", "HP:0001701", "HP:0001744", "HP:0001824", "HP:0001945", "HP:0001974", "HP:0002014", "HP:0002027", "HP:0002815", "HP:0003073", "HP:0003216", "HP:0003259", "HP:0003565", "HP:0010783", "HP:0011227", "HP:0011956", "HP:0012378", "HP:0012596", "HP:0012597", "HP:0030166", "HP:0030838", "HP:0100016", "HP:0100539"], "RareDisease": ["OMIM:142680", "ORPHA:32960"], "Department": null}
|
| 57 |
+
{"Phenotype": ["HP:0000138", "HP:0001397", "HP:0001744", "HP:0001945", "HP:0002829", "HP:0002875", "HP:0003326", "HP:0003546", "HP:0011227", "HP:0030166"], "RareDisease": ["CCRD:28", "OMIM:134610", "OMIM:249100", "ORPHA:342"], "Department": null}
|
| 58 |
+
{"Phenotype": ["HP:0000017", "HP:0000107", "HP:0000138", "HP:0000975", "HP:0001041", "HP:0001386", "HP:0001397", "HP:0001541", "HP:0001649", "HP:0001735", "HP:0001780", "HP:0002013", "HP:0002014", "HP:0002018", "HP:0002059", "HP:0002094", "HP:0002102", "HP:0002149", "HP:0002155", "HP:0002202", "HP:0002240", "HP:0002829", "HP:0002896", "HP:0002923", "HP:0003124", "HP:0003149", "HP:0003281", "HP:0003326", "HP:0003418", "HP:0003496", "HP:0003546", "HP:0003573", "HP:0005197", "HP:0005339", "HP:0006163", "HP:0009726", "HP:0009830", "HP:0011227", "HP:0012611", "HP:0025346", "HP:0030833", "HP:0030834", "HP:0030837", "HP:0030948", "HP:0031226", "HP:0031520", "HP:0032300", "HP:0100512", "HP:0100643", "HP:0100785", "HP:0410367"], "RareDisease": ["ORPHA:81"], "Department": null}
|
| 59 |
+
{"Phenotype": ["HP:0000093", "HP:0000245", "HP:0000377", "HP:0000433", "HP:0000790", "HP:0001063", "HP:0001785", "HP:0001903", "HP:0002910", "HP:0003259", "HP:0011227", "HP:0012213", "HP:0032230"], "RareDisease": ["OMIM:608710", "ORPHA:900"], "Department": null}
|
| 60 |
+
{"Phenotype": ["HP:0000155", "HP:0000217", "HP:0000360", "HP:0000365", "HP:0000520", "HP:0000572", "HP:0000633", "HP:0000651", "HP:0000787", "HP:0001167", "HP:0001269", "HP:0001288", "HP:0001369", "HP:0001653", "HP:0001947", "HP:0001974", "HP:0002076", "HP:0002321", "HP:0002829", "HP:0002875", "HP:0002925", "HP:0003474", "HP:0003537", "HP:0003546", "HP:0011935", "HP:0030833", "HP:0032154", "HP:0100512", "HP:0200037", "HP:0200039"], "RareDisease": ["OMIM:106300", "OMIM:109650", "OMIM:183840", "ORPHA:117"], "Department": null}
|
| 61 |
+
{"Phenotype": ["HP:0000246", "HP:0000822", "HP:0000958", "HP:0000980", "HP:0001894", "HP:0001903", "HP:0001920", "HP:0001945", "HP:0001974", "HP:0002013", "HP:0002027", "HP:0002094", "HP:0002754", "HP:0002910", "HP:0003138", "HP:0003237", "HP:0003259", "HP:0003418", "HP:0003493", "HP:0003546", "HP:0003565", "HP:0004396", "HP:0011097", "HP:0011227", "HP:0030157", "HP:0030948", "HP:0031030", "HP:0032483", "HP:0100016", "HP:0200034", "HP:0410019"], "RareDisease": ["OMIM:207600", "ORPHA:3287"], "Department": null}
|
| 62 |
+
{"Phenotype": ["HP:0001397", "HP:0002385", "HP:0002817", "HP:0002910", "HP:0003115", "HP:0003236", "HP:0003259", "HP:0003326", "HP:0003493", "HP:0005110", "HP:0005145", "HP:0008978", "HP:0011713", "HP:0012213", "HP:0012596", "HP:0012597", "HP:0030167", "HP:0030948", "HP:0031185", "HP:0100545"], "RareDisease": ["ORPHA:171", "ORPHA:732"], "Department": null}
|
| 63 |
+
{"Phenotype": ["HP:0000364", "HP:0000572", "HP:0000822", "HP:0000975", "HP:0001288", "HP:0001397", "HP:0001575", "HP:0001659", "HP:0001744", "HP:0002014", "HP:0002018", "HP:0002019", "HP:0002046", "HP:0002242", "HP:0002315", "HP:0002321", "HP:0002814", "HP:0002829", "HP:0002875", "HP:0002910", "HP:0003115", "HP:0003141", "HP:0003236", "HP:0003270", "HP:0003281", "HP:0003418", "HP:0003474", "HP:0003546", "HP:0004386", "HP:0004756", "HP:0005263", "HP:0006682", "HP:0011227", "HP:0011712", "HP:0011911", "HP:0012185", "HP:0012317", "HP:0012513", "HP:0012514", "HP:0012534", "HP:0025269", "HP:0030833", "HP:0030838", "HP:0031520", "HP:0031588", "HP:0100512", "HP:0100749", "HP:0100785"], "RareDisease": ["OMIM:106300", "OMIM:183840"], "Department": null}
|
| 64 |
+
{"Phenotype": ["HP:0000853", "HP:0001081", "HP:0001369", "HP:0001600", "HP:0001679", "HP:0001894", "HP:0001903", "HP:0001945", "HP:0001974", "HP:0002240", "HP:0002242", "HP:0002829", "HP:0002910", "HP:0003072", "HP:0003155", "HP:0003326", "HP:0003546", "HP:0005413", "HP:0011227", "HP:0025022", "HP:0025289", "HP:0030166", "HP:0030839", "HP:0030948"], "RareDisease": ["OMIM:120100", "OMIM:191900", "OMIM:607115", "OMIM:611762", "OMIM:614468", "OMIM:616115", "ORPHA:1451", "ORPHA:47045", "ORPHA:575"], "Department": null}
|
| 65 |
+
{"Phenotype": ["HP:0000083", "HP:0000089", "HP:0000097", "HP:0000821", "HP:0001903", "HP:0002014", "HP:0002153", "HP:0003073", "HP:0003138", "HP:0003165", "HP:0003259", "HP:0012213", "HP:0012595", "HP:0100512", "HP:0200034"], "RareDisease": ["CCRD:27", "OMIM:301500", "ORPHA:324"], "Department": null}
|
| 66 |
+
{"Phenotype": ["HP:0000736", "HP:0001873", "HP:0001981", "HP:0002172", "HP:0002321", "HP:0002910", "HP:0003138", "HP:0003259", "HP:0003546", "HP:0007185", "HP:0008330", "HP:0012213", "HP:0020181", "HP:0025435", "HP:0032308", "HP:0100661"], "RareDisease": ["OMIM:274150", "ORPHA:54057"], "Department": null}
|
| 67 |
+
{"Phenotype": ["HP:0000869", "HP:0001629", "HP:0001659", "HP:0001744", "HP:0001824", "HP:0001894", "HP:0001935", "HP:0001945", "HP:0001970", "HP:0002094", "HP:0002829", "HP:0003138", "HP:0003546", "HP:0003565", "HP:0005259", "HP:0011712", "HP:0012122", "HP:0012213", "HP:0012513", "HP:0012595", "HP:0012735", "HP:0030157", "HP:0030833", "HP:0031664", "HP:0100515", "HP:0100584"], "RareDisease": ["OMIM:607665"], "Department": null}
|
| 68 |
+
{"Phenotype": ["HP:0000545", "HP:0000651", "HP:0000958", "HP:0001155", "HP:0001265", "HP:0001760", "HP:0001875", "HP:0002570", "HP:0002781", "HP:0002829", "HP:0002883", "HP:0003236", "HP:0006536", "HP:0007210", "HP:0012513", "HP:0012534", "HP:0025238", "HP:0040126", "HP:0100827", "HP:0410281"], "RareDisease": ["OMIM:133020", "ORPHA:90026"], "Department": null}
|
| 69 |
+
{"Phenotype": ["HP:0000093", "HP:0000142", "HP:0000164", "HP:0000246", "HP:0000433", "HP:0000713", "HP:0000822", "HP:0001041", "HP:0001288", "HP:0001384", "HP:0001596", "HP:0001600", "HP:0001785", "HP:0001945", "HP:0001959", "HP:0001962", "HP:0002019", "HP:0002020", "HP:0002027", "HP:0002315", "HP:0002321", "HP:0002829", "HP:0002875", "HP:0002923", "HP:0003419", "HP:0003474", "HP:0003493", "HP:0005197", "HP:0006253", "HP:0006256", "HP:0007042", "HP:0010741", "HP:0011911", "HP:0012085", "HP:0012213", "HP:0012219", "HP:0012378", "HP:0012479", "HP:0012514", "HP:0012534", "HP:0030157", "HP:0030166", "HP:0030269", "HP:0030837", "HP:0030838", "HP:0030899", "HP:0031284", "HP:0031352", "HP:0031520", "HP:0040264", "HP:0100515", "HP:0100540", "HP:0100749", "HP:0410019"], "RareDisease": ["CCRD:112", "OMIM:181750", "ORPHA:220393", "ORPHA:220402", "ORPHA:732", "ORPHA:801", "ORPHA:90289", "ORPHA:90290", "ORPHA:90291"], "Department": null}
|
| 70 |
+
{"Phenotype": ["HP:0000217", "HP:0000505", "HP:0001824", "HP:0001945", "HP:0002907", "HP:0002910", "HP:0003418", "HP:0003546", "HP:0003565", "HP:0004396", "HP:0010783", "HP:0011227", "HP:0011801", "HP:0012122", "HP:0012577", "HP:0012595", "HP:0025289", "HP:0030166", "HP:0200026"], "RareDisease": ["OMIM:181000", "OMIM:612387", "ORPHA:797"], "Department": null}
|
| 71 |
+
{"Phenotype": ["HP:0000155", "HP:0002315", "HP:0002354", "HP:0002754", "HP:0002758", "HP:0002808", "HP:0002870", "HP:0003028", "HP:0003418", "HP:0008419", "HP:0030840", "HP:0032154", "HP:0200039"], "RareDisease": ["ORPHA:793"], "Department": null}
|
| 72 |
+
{"Phenotype": ["HP:0000098", "HP:0000107", "HP:0000138", "HP:0000501", "HP:0000545", "HP:0001167", "HP:0001761", "HP:0001824", "HP:0002615", "HP:0002619", "HP:0002763", "HP:0002829", "HP:0002857", "HP:0002875", "HP:0002907", "HP:0004386", "HP:0005086", "HP:0005108", "HP:0005263", "HP:0007663", "HP:0010741", "HP:0030835", "HP:0030838", "HP:0030839", "HP:0031520", "HP:0032191"], "RareDisease": ["OMIM:108300", "OMIM:184840", "OMIM:604841", "OMIM:614134", "OMIM:614284", "ORPHA:166100", "ORPHA:250984", "ORPHA:828", "ORPHA:90653", "ORPHA:90654"], "Department": null}
|
| 73 |
+
{"Phenotype": ["HP:0000083", "HP:0000100", "HP:0001698", "HP:0001701", "HP:0001903", "HP:0003259", "HP:0003493", "HP:0003546", "HP:0004431", "HP:0012378", "HP:0012596", "HP:0012597"], "RareDisease": ["OMIM:152700", "OMIM:606579", "OMIM:609939", "OMIM:614420", "ORPHA:93552"], "Department": null}
|
| 74 |
+
{"Phenotype": ["HP:0000142", "HP:0000155", "HP:0000217", "HP:0001097", "HP:0001167", "HP:0002014", "HP:0002027", "HP:0002240", "HP:0002315", "HP:0002814", "HP:0002829", "HP:0002896", "HP:0003124", "HP:0003282", "HP:0003474", "HP:0003546", "HP:0004326", "HP:0005263", "HP:0007042", "HP:0010784", "HP:0010876", "HP:0012514", "HP:0012534", "HP:0030057", "HP:0030140", "HP:0030166", "HP:0032483", "HP:0100633", "HP:0100643"], "RareDisease": ["OMIM:270150"], "Department": null}
|
| 75 |
+
{"Phenotype": ["HP:0000821", "HP:0001744", "HP:0001888", "HP:0001935", "HP:0001945", "HP:0002018", "HP:0002094", "HP:0002102", "HP:0002202", "HP:0002901", "HP:0004396", "HP:0010931", "HP:0011227", "HP:0011703", "HP:0012378", "HP:0025143", "HP:0025435", "HP:0030160", "HP:0100749"], "RareDisease": ["CCRD:28", "OMIM:134610", "OMIM:249100", "ORPHA:342"], "Department": null}
|
| 76 |
+
{"Phenotype": ["HP:0000365", "HP:0001288", "HP:0001397", "HP:0001407", "HP:0001698", "HP:0001744", "HP:0002088", "HP:0002240", "HP:0002385", "HP:0003474", "HP:0012384", "HP:0012514", "HP:0030423", "HP:0032230", "HP:0100785"], "RareDisease": ["OMIM:608710", "ORPHA:900"], "Department": null}
|
| 77 |
+
{"Phenotype": ["HP:0000107", "HP:0000121", "HP:0001288", "HP:0001369", "HP:0001744", "HP:0001875", "HP:0001882", "HP:0001913", "HP:0001935", "HP:0002148", "HP:0002240", "HP:0002315", "HP:0002321", "HP:0002716", "HP:0002814", "HP:0002875", "HP:0003418", "HP:0003546", "HP:0003565", "HP:0004418", "HP:0005108", "HP:0005268", "HP:0006256", "HP:0006261", "HP:0007210", "HP:0010287", "HP:0012513", "HP:0012514", "HP:0012534", "HP:0025238", "HP:0030833", "HP:0030836", "HP:0030837", "HP:0030838", "HP:0030839", "HP:0030840"], "RareDisease": ["OMIM:134750", "ORPHA:47612"], "Department": null}
|
| 78 |
+
{"Phenotype": ["HP:0000365", "HP:0000822", "HP:0002105", "HP:0002315", "HP:0002829", "HP:0012384", "HP:0030836", "HP:0030839", "HP:0030840"], "RareDisease": ["OMIM:608710", "ORPHA:900"], "Department": null}
|
| 79 |
+
{"Phenotype": ["HP:0000083", "HP:0000366", "HP:0000377", "HP:0000572", "HP:0000938", "HP:0001041", "HP:0001167", "HP:0001225", "HP:0001780", "HP:0001880", "HP:0001935", "HP:0003546", "HP:0009129", "HP:0010741", "HP:0011911", "HP:0025238", "HP:0030834", "HP:0100534", "HP:0100758"], "RareDisease": ["ORPHA:728"], "Department": null}
|
| 80 |
+
{"Phenotype": ["HP:0000766", "HP:0001974", "HP:0002094", "HP:0002754", "HP:0002758", "HP:0003565", "HP:0011227", "HP:0100749", "HP:0100774"], "RareDisease": ["ORPHA:793"], "Department": null}
|
| 81 |
+
{"Phenotype": ["HP:0000223", "HP:0000793", "HP:0000967", "HP:0002315", "HP:0012378"], "RareDisease": ["ORPHA:761"], "Department": null}
|
| 82 |
+
{"Phenotype": ["HP:0000217", "HP:0000858", "HP:0001097", "HP:0001882", "HP:0002014", "HP:0020181", "HP:0030057"], "RareDisease": ["OMIM:152700", "OMIM:270150", "OMIM:606579", "OMIM:609939", "OMIM:614420", "ORPHA:93552"], "Department": null}
|
| 83 |
+
{"Phenotype": ["HP:0000246", "HP:0001880", "HP:0002094", "HP:0002113", "HP:0002583", "HP:0002910", "HP:0003212", "HP:0003236", "HP:0009098", "HP:0011227", "HP:0011897", "HP:0012213", "HP:0012387", "HP:0025066", "HP:0025392", "HP:0030057", "HP:0030877", "HP:0032300", "HP:0100512", "HP:0100582"], "RareDisease": ["ORPHA:183"], "Department": null}
|
| 84 |
+
{"Phenotype": ["HP:0002633", "HP:0003565", "HP:0011227", "HP:0012273", "HP:0012378", "HP:0025289", "HP:0030833"], "RareDisease": ["OMIM:207600", "ORPHA:3287"], "Department": null}
|
| 85 |
+
{"Phenotype": ["HP:0000953", "HP:0001894", "HP:0001897", "HP:0001945", "HP:0002659", "HP:0002910", "HP:0003155", "HP:0003261", "HP:0003326", "HP:0003565", "HP:0005180", "HP:0011120", "HP:0011227", "HP:0012735", "HP:0025392", "HP:0025547", "HP:0030313", "HP:0030840", "HP:0030948", "HP:0032230", "HP:0100827"], "RareDisease": ["OMIM:608710", "ORPHA:900"], "Department": null}
|
| 86 |
+
{"Phenotype": ["HP:0001061", "HP:0001649", "HP:0001712", "HP:0001962", "HP:0002829", "HP:0003115", "HP:0004342", "HP:0007514", "HP:0012513", "HP:0025131", "HP:0030837", "HP:0030839", "HP:0030840", "HP:0200034"], "RareDisease": ["CCRD:27", "OMIM:301500", "ORPHA:324"], "Department": null}
|
| 87 |
+
{"Phenotype": ["HP:0001167", "HP:0001225", "HP:0001369", "HP:0001386", "HP:0001397", "HP:0001600", "HP:0001707", "HP:0001780", "HP:0001785", "HP:0001824", "HP:0001945", "HP:0002027", "HP:0002092", "HP:0002149", "HP:0002592", "HP:0002815", "HP:0002829", "HP:0003149", "HP:0003326", "HP:0003401", "HP:0003418", "HP:0003493", "HP:0003546", "HP:0003565", "HP:0004396", "HP:0005197", "HP:0005202", "HP:0010741", "HP:0011227", "HP:0011956", "HP:0012185", "HP:0012398", "HP:0012611", "HP:0025230", "HP:0030157", "HP:0030166", "HP:0030836", "HP:0030838", "HP:0030839", "HP:0030840", "HP:0030841", "HP:0030948", "HP:0100016", "HP:0410019"], "RareDisease": ["ORPHA:3452"], "Department": null}
|
| 88 |
+
{"Phenotype": ["HP:0000010", "HP:0000979", "HP:0001945", "HP:0001974", "HP:0002633", "HP:0010741", "HP:0012514", "HP:0031520"], "RareDisease": ["ORPHA:761"], "Department": null}
|
RDpatient_data/Public/LIRICAL.jsonl
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|
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|
|
RDpatient_data/Public/MME.jsonl
CHANGED
|
@@ -1,40 +1,40 @@
|
|
| 1 |
-
{"Phenotype": ["HP:0000272", "HP:0000347", "HP:0000384", "HP:0000405", "HP:0000413", "HP:0000453", "HP:0000545", "HP:0008551", "HP:0008773", "HP:0009623", "HP:0010880", "HP:0011342", "HP:0011451", "HP:0011471"], "RareDisease": ["OMIM:610536", "ORPHA:79113"]}
|
| 2 |
-
{"Phenotype": ["HP:0000253", "HP:0000648", "HP:0001263", "HP:0001285", "HP:0001336", "HP:0001518", "HP:0001857", "HP:0003561", "HP:0009879", "HP:0009882", "HP:0011451", "HP:0012469", "HP:0100026"], "RareDisease": ["OMIM:614261"]}
|
| 3 |
-
{"Phenotype": ["HP:0000407", "HP:0000510", "HP:0001272", "HP:0001284", "HP:0001761", "HP:0001765", "HP:0002474", "HP:0003447", "HP:0003474", "HP:0007141", "HP:0007240", "HP:0009088", "HP:0011096", "HP:0200070"], "RareDisease": ["OMIM:233400"]}
|
| 4 |
-
{"Phenotype": ["HP:0002194", "HP:0002282", "HP:0007033", "HP:0008058"], "RareDisease": ["OMIM:615960"]}
|
| 5 |
-
{"Phenotype": ["HP:0000160", "HP:0000518", "HP:0000574", "HP:0000824", "HP:0002194", "HP:0002857", "HP:0002943", "HP:0003510", "HP:0005775", "HP:0007067", "HP:0008619", "HP:0011220"], "RareDisease": ["OMIM:616007", "ORPHA:436174"]}
|
| 6 |
-
{"Phenotype": ["HP:0000486", "HP:0000639", "HP:0000750", "HP:0001090", "HP:0001270", "HP:0001274", "HP:0001320", "HP:0002198", "HP:0002350", "HP:0002418", "HP:0007033", "HP:0011003", "HP:0011932", "HP:0030283"], "RareDisease": ["OMIM:615960"]}
|
| 7 |
-
{"Phenotype": ["HP:0000486", "HP:0000545", "HP:0000639", "HP:0001090", "HP:0001270", "HP:0001320", "HP:0002198", "HP:0002350", "HP:0007033", "HP:0007980"], "RareDisease": ["OMIM:615960"]}
|
| 8 |
-
{"Phenotype": ["HP:0000486", "HP:0000518", "HP:0000646", "HP:0000729", "HP:0000750", "HP:0001090", "HP:0001105", "HP:0001270", "HP:0001320", "HP:0002198", "HP:0002350", "HP:0002418", "HP:0004691", "HP:0007033", "HP:0007980", "HP:0011003", "HP:0030285"], "RareDisease": ["OMIM:615960"]}
|
| 9 |
-
{"Phenotype": ["HP:0000479", "HP:0000545", "HP:0000657", "HP:0000750", "HP:0001270", "HP:0001290", "HP:0002198", "HP:0007033", "HP:0007068"], "RareDisease": ["OMIM:615960"]}
|
| 10 |
-
{"Phenotype": ["HP:0000486", "HP:0000533", "HP:0000639", "HP:0000657", "HP:0000750", "HP:0001090", "HP:0001270", "HP:0001290", "HP:0007033", "HP:0007068", "HP:0011003"], "RareDisease": ["OMIM:615960"]}
|
| 11 |
-
{"Phenotype": ["HP:0000175", "HP:0000201", "HP:0001328", "HP:0011968", "HP:0012418", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"]}
|
| 12 |
-
{"Phenotype": ["HP:0000201", "HP:0000218", "HP:0000494", "HP:0000670", "HP:0000878", "HP:0001328", "HP:0011968", "HP:0030279", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"]}
|
| 13 |
-
{"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000316", "HP:0000494", "HP:0001257", "HP:0002011", "HP:0002072", "HP:0002091", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"]}
|
| 14 |
-
{"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000453", "HP:0000465", "HP:0000476", "HP:0001040", "HP:0001631", "HP:0002650", "HP:0012306"], "RareDisease": ["OMIM:117650", "ORPHA:1393"]}
|
| 15 |
-
{"Phenotype": ["HP:0000201", "HP:0000218", "HP:0000765"], "RareDisease": ["OMIM:117650", "ORPHA:1393"]}
|
| 16 |
-
{"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000405", "HP:0000824", "HP:0002650", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"]}
|
| 17 |
-
{"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000883", "HP:0002025", "HP:0002650", "HP:0100543"], "RareDisease": ["OMIM:117650", "ORPHA:1393"]}
|
| 18 |
-
{"Phenotype": ["HP:0000175", "HP:0000201", "HP:0001631", "HP:0002093", "HP:0004719", "HP:0011968", "HP:0030282", "HP:0030300"], "RareDisease": ["OMIM:117650", "ORPHA:1393"]}
|
| 19 |
-
{"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000204", "HP:0002098", "HP:0002650", "HP:0030282", "HP:0030300"], "RareDisease": ["OMIM:117650", "ORPHA:1393"]}
|
| 20 |
-
{"Phenotype": ["HP:0000201", "HP:0000405", "HP:0000486", "HP:0000540", "HP:0001631", "HP:0002098", "HP:0002650", "HP:0011968", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"]}
|
| 21 |
-
{"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000405", "HP:0000878", "HP:0000883", "HP:0002650", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"]}
|
| 22 |
-
{"Phenotype": ["HP:0000160", "HP:0000272", "HP:0000286", "HP:0000337", "HP:0000639", "HP:0001250", "HP:0003196", "HP:0009765", "HP:0011344", "HP:0011347"], "RareDisease": ["OMIM:245570"]}
|
| 23 |
-
{"Phenotype": ["HP:0000926", "HP:0001230", "HP:0001999", "HP:0002104", "HP:0002866", "HP:0003025", "HP:0003180", "HP:0005257", "HP:0006009", "HP:0008416", "HP:0008905", "HP:0010049", "HP:0011675", "HP:0030306"], "RareDisease": ["OMIM:250220", "ORPHA:93317"]}
|
| 24 |
-
{"Phenotype": ["HP:0000926", "HP:0000946", "HP:0001248", "HP:0001290", "HP:0001321", "HP:0001678", "HP:0002079", "HP:0002098", "HP:0002123", "HP:0003180", "HP:0003375", "HP:0004273", "HP:0005108", "HP:0009879", "HP:0100255"], "RareDisease": ["OMIM:250220", "ORPHA:93317"]}
|
| 25 |
-
{"Phenotype": ["HP:0000495", "HP:0000522", "HP:0001250", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001395", "HP:0001773", "HP:0002019", "HP:0002171", "HP:0002353", "HP:0002910", "HP:0006254", "HP:0006579", "HP:0009830", "HP:0010605", "HP:0012520", "HP:0200055"], "RareDisease": ["OMIM:615273", "ORPHA:404454"]}
|
| 26 |
-
{"Phenotype": ["HP:0000252", "HP:0000495", "HP:0000522", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001511", "HP:0002019", "HP:0002151", "HP:0002353", "HP:0002650", "HP:0002910", "HP:0009830"], "RareDisease": ["OMIM:615273", "ORPHA:404454"]}
|
| 27 |
-
{"Phenotype": ["HP:0000486", "HP:0000495", "HP:0000522", "HP:0001250", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001395", "HP:0001511", "HP:0001773", "HP:0002019", "HP:0002151", "HP:0002171", "HP:0002353", "HP:0002650", "HP:0002910", "HP:0006254", "HP:0006579", "HP:0006958", "HP:0010605", "HP:0012448", "HP:0012520", "HP:0200055"], "RareDisease": ["OMIM:615273", "ORPHA:404454"]}
|
| 28 |
-
{"Phenotype": ["HP:0000218", "HP:0000252", "HP:0000286", "HP:0000347", "HP:0000508", "HP:0000522", "HP:0001250", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001511", "HP:0001773", "HP:0002019", "HP:0002119", "HP:0002151", "HP:0002353", "HP:0002418", "HP:0002650", "HP:0003196", "HP:0006254", "HP:0006579", "HP:0009085", "HP:0009830", "HP:0009891", "HP:0200055"], "RareDisease": ["OMIM:615273", "ORPHA:404454"]}
|
| 29 |
-
{"Phenotype": ["HP:0000252", "HP:0000286", "HP:0001252", "HP:0001263", "HP:0001395", "HP:0001511", "HP:0002353", "HP:0003196", "HP:0006579", "HP:0006956", "HP:0100022"], "RareDisease": ["OMIM:615273", "ORPHA:404454"]}
|
| 30 |
-
{"Phenotype": ["HP:0000252", "HP:0000286", "HP:0000486", "HP:0000522", "HP:0000657", "HP:0001182", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001864", "HP:0002007", "HP:0002019", "HP:0002557", "HP:0002910", "HP:0005487", "HP:0006579", "HP:0010605", "HP:0010804", "HP:0011918"], "RareDisease": ["OMIM:615273", "ORPHA:404454"]}
|
| 31 |
-
{"Phenotype": ["HP:0000252", "HP:0000431", "HP:0000486", "HP:0000495", "HP:0000520", "HP:0000522", "HP:0000657", "HP:0000678", "HP:0001250", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001511", "HP:0001773", "HP:0002019", "HP:0002353", "HP:0002553", "HP:0002650", "HP:0005320", "HP:0200055"], "RareDisease": ["OMIM:615273", "ORPHA:404454"]}
|
| 32 |
-
{"Phenotype": ["HP:0000252", "HP:0000718", "HP:0001250", "HP:0010864"], "RareDisease": ["OMIM:604317", "ORPHA:2512"]}
|
| 33 |
-
{"Phenotype": ["HP:0000639", "HP:0000648", "HP:0001252", "HP:0001254", "HP:0001260", "HP:0002066", "HP:0002370", "HP:0007965", "HP:0008619"], "RareDisease": ["OMIM:601338", "ORPHA:1171"]}
|
| 34 |
-
{"Phenotype": ["HP:0000218", "HP:0000278", "HP:0000316", "HP:0000319", "HP:0000347", "HP:0000369", "HP:0000494", "HP:0000768", "HP:0001166", "HP:0001265", "HP:0001363", "HP:0001388", "HP:0001537", "HP:0001655", "HP:0001762", "HP:0001763", "HP:0002151", "HP:0002410", "HP:0002474", "HP:0002868", "HP:0003298", "HP:0003396", "HP:0006801", "HP:0006889", "HP:0010665", "HP:0011220"], "RareDisease": ["OMIM:182212", "ORPHA:2462"]}
|
| 35 |
-
{"Phenotype": ["HP:0000218", "HP:0000286", "HP:0000316", "HP:0000322", "HP:0000348", "HP:0000463", "HP:0000954", "HP:0001252", "HP:0001263", "HP:0001344", "HP:0002007", "HP:0002079", "HP:0002282", "HP:0002912", "HP:0003196", "HP:0006956", "HP:0007793", "HP:0008070", "HP:0010055", "HP:0010804", "HP:0012120", "HP:0012448", "HP:0040155", "HP:0045034"], "RareDisease": ["OMIM:614105"]}
|
| 36 |
-
{"Phenotype": ["HP:0000325", "HP:0000430", "HP:0000490", "HP:0000558", "HP:0000684", "HP:0004322", "HP:0007495", "HP:0009125"], "RareDisease": ["OMIM:269880", "ORPHA:3163"]}
|
| 37 |
-
{"Phenotype": ["HP:0000085", "HP:0000179", "HP:0000215", "HP:0000252", "HP:0000348", "HP:0000490", "HP:0000545", "HP:0000582", "HP:0000670", "HP:0000689", "HP:0001643", "HP:0002342", "HP:0003189", "HP:0009765", "HP:0009890", "HP:0012745"], "RareDisease": ["OMIM:613680"]}
|
| 38 |
-
{"Phenotype": ["HP:0000010", "HP:0000230", "HP:0000403", "HP:0001744", "HP:0001875", "HP:0001888", "HP:0004854", "HP:0004866", "HP:0005401", "HP:0012138"], "RareDisease": ["OMIM:612541", "CCRD:104"]}
|
| 39 |
-
{"Phenotype": ["HP:0001539", "HP:0005214", "HP:0011100"], "RareDisease": ["OMIM:243150", "ORPHA:436252"]}
|
| 40 |
-
{"Phenotype": ["HP:0000252", "HP:0000486", "HP:0000522", "HP:0000657", "HP:0001252", "HP:0001263", "HP:0001395", "HP:0001773", "HP:0002019", "HP:0002059", "HP:0002079", "HP:0002151", "HP:0002353", "HP:0002472", "HP:0002910", "HP:0006579", "HP:0006958", "HP:0010605", "HP:0030303", "HP:0100022", "HP:0200055"], "RareDisease": ["OMIM:615273", "ORPHA:404454"]}
|
|
|
|
| 1 |
+
{"Phenotype": ["HP:0000272", "HP:0000347", "HP:0000384", "HP:0000405", "HP:0000413", "HP:0000453", "HP:0000545", "HP:0008551", "HP:0008773", "HP:0009623", "HP:0010880", "HP:0011342", "HP:0011451", "HP:0011471"], "RareDisease": ["OMIM:610536", "ORPHA:79113"], "Department": null}
|
| 2 |
+
{"Phenotype": ["HP:0000253", "HP:0000648", "HP:0001263", "HP:0001285", "HP:0001336", "HP:0001518", "HP:0001857", "HP:0003561", "HP:0009879", "HP:0009882", "HP:0011451", "HP:0012469", "HP:0100026"], "RareDisease": ["OMIM:614261"], "Department": null}
|
| 3 |
+
{"Phenotype": ["HP:0000407", "HP:0000510", "HP:0001272", "HP:0001284", "HP:0001761", "HP:0001765", "HP:0002474", "HP:0003447", "HP:0003474", "HP:0007141", "HP:0007240", "HP:0009088", "HP:0011096", "HP:0200070"], "RareDisease": ["OMIM:233400"], "Department": null}
|
| 4 |
+
{"Phenotype": ["HP:0002194", "HP:0002282", "HP:0007033", "HP:0008058"], "RareDisease": ["OMIM:615960"], "Department": null}
|
| 5 |
+
{"Phenotype": ["HP:0000160", "HP:0000518", "HP:0000574", "HP:0000824", "HP:0002194", "HP:0002857", "HP:0002943", "HP:0003510", "HP:0005775", "HP:0007067", "HP:0008619", "HP:0011220"], "RareDisease": ["OMIM:616007", "ORPHA:436174"], "Department": null}
|
| 6 |
+
{"Phenotype": ["HP:0000486", "HP:0000639", "HP:0000750", "HP:0001090", "HP:0001270", "HP:0001274", "HP:0001320", "HP:0002198", "HP:0002350", "HP:0002418", "HP:0007033", "HP:0011003", "HP:0011932", "HP:0030283"], "RareDisease": ["OMIM:615960"], "Department": null}
|
| 7 |
+
{"Phenotype": ["HP:0000486", "HP:0000545", "HP:0000639", "HP:0001090", "HP:0001270", "HP:0001320", "HP:0002198", "HP:0002350", "HP:0007033", "HP:0007980"], "RareDisease": ["OMIM:615960"], "Department": null}
|
| 8 |
+
{"Phenotype": ["HP:0000486", "HP:0000518", "HP:0000646", "HP:0000729", "HP:0000750", "HP:0001090", "HP:0001105", "HP:0001270", "HP:0001320", "HP:0002198", "HP:0002350", "HP:0002418", "HP:0004691", "HP:0007033", "HP:0007980", "HP:0011003", "HP:0030285"], "RareDisease": ["OMIM:615960"], "Department": null}
|
| 9 |
+
{"Phenotype": ["HP:0000479", "HP:0000545", "HP:0000657", "HP:0000750", "HP:0001270", "HP:0001290", "HP:0002198", "HP:0007033", "HP:0007068"], "RareDisease": ["OMIM:615960"], "Department": null}
|
| 10 |
+
{"Phenotype": ["HP:0000486", "HP:0000533", "HP:0000639", "HP:0000657", "HP:0000750", "HP:0001090", "HP:0001270", "HP:0001290", "HP:0007033", "HP:0007068", "HP:0011003"], "RareDisease": ["OMIM:615960"], "Department": null}
|
| 11 |
+
{"Phenotype": ["HP:0000175", "HP:0000201", "HP:0001328", "HP:0011968", "HP:0012418", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null}
|
| 12 |
+
{"Phenotype": ["HP:0000201", "HP:0000218", "HP:0000494", "HP:0000670", "HP:0000878", "HP:0001328", "HP:0011968", "HP:0030279", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null}
|
| 13 |
+
{"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000316", "HP:0000494", "HP:0001257", "HP:0002011", "HP:0002072", "HP:0002091", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null}
|
| 14 |
+
{"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000453", "HP:0000465", "HP:0000476", "HP:0001040", "HP:0001631", "HP:0002650", "HP:0012306"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null}
|
| 15 |
+
{"Phenotype": ["HP:0000201", "HP:0000218", "HP:0000765"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null}
|
| 16 |
+
{"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000405", "HP:0000824", "HP:0002650", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null}
|
| 17 |
+
{"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000883", "HP:0002025", "HP:0002650", "HP:0100543"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null}
|
| 18 |
+
{"Phenotype": ["HP:0000175", "HP:0000201", "HP:0001631", "HP:0002093", "HP:0004719", "HP:0011968", "HP:0030282", "HP:0030300"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null}
|
| 19 |
+
{"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000204", "HP:0002098", "HP:0002650", "HP:0030282", "HP:0030300"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null}
|
| 20 |
+
{"Phenotype": ["HP:0000201", "HP:0000405", "HP:0000486", "HP:0000540", "HP:0001631", "HP:0002098", "HP:0002650", "HP:0011968", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null}
|
| 21 |
+
{"Phenotype": ["HP:0000175", "HP:0000201", "HP:0000405", "HP:0000878", "HP:0000883", "HP:0002650", "HP:0030282"], "RareDisease": ["OMIM:117650", "ORPHA:1393"], "Department": null}
|
| 22 |
+
{"Phenotype": ["HP:0000160", "HP:0000272", "HP:0000286", "HP:0000337", "HP:0000639", "HP:0001250", "HP:0003196", "HP:0009765", "HP:0011344", "HP:0011347"], "RareDisease": ["OMIM:245570"], "Department": null}
|
| 23 |
+
{"Phenotype": ["HP:0000926", "HP:0001230", "HP:0001999", "HP:0002104", "HP:0002866", "HP:0003025", "HP:0003180", "HP:0005257", "HP:0006009", "HP:0008416", "HP:0008905", "HP:0010049", "HP:0011675", "HP:0030306"], "RareDisease": ["OMIM:250220", "ORPHA:93317"], "Department": null}
|
| 24 |
+
{"Phenotype": ["HP:0000926", "HP:0000946", "HP:0001248", "HP:0001290", "HP:0001321", "HP:0001678", "HP:0002079", "HP:0002098", "HP:0002123", "HP:0003180", "HP:0003375", "HP:0004273", "HP:0005108", "HP:0009879", "HP:0100255"], "RareDisease": ["OMIM:250220", "ORPHA:93317"], "Department": null}
|
| 25 |
+
{"Phenotype": ["HP:0000495", "HP:0000522", "HP:0001250", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001395", "HP:0001773", "HP:0002019", "HP:0002171", "HP:0002353", "HP:0002910", "HP:0006254", "HP:0006579", "HP:0009830", "HP:0010605", "HP:0012520", "HP:0200055"], "RareDisease": ["OMIM:615273", "ORPHA:404454"], "Department": null}
|
| 26 |
+
{"Phenotype": ["HP:0000252", "HP:0000495", "HP:0000522", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001511", "HP:0002019", "HP:0002151", "HP:0002353", "HP:0002650", "HP:0002910", "HP:0009830"], "RareDisease": ["OMIM:615273", "ORPHA:404454"], "Department": null}
|
| 27 |
+
{"Phenotype": ["HP:0000486", "HP:0000495", "HP:0000522", "HP:0001250", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001395", "HP:0001511", "HP:0001773", "HP:0002019", "HP:0002151", "HP:0002171", "HP:0002353", "HP:0002650", "HP:0002910", "HP:0006254", "HP:0006579", "HP:0006958", "HP:0010605", "HP:0012448", "HP:0012520", "HP:0200055"], "RareDisease": ["OMIM:615273", "ORPHA:404454"], "Department": null}
|
| 28 |
+
{"Phenotype": ["HP:0000218", "HP:0000252", "HP:0000286", "HP:0000347", "HP:0000508", "HP:0000522", "HP:0001250", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001511", "HP:0001773", "HP:0002019", "HP:0002119", "HP:0002151", "HP:0002353", "HP:0002418", "HP:0002650", "HP:0003196", "HP:0006254", "HP:0006579", "HP:0009085", "HP:0009830", "HP:0009891", "HP:0200055"], "RareDisease": ["OMIM:615273", "ORPHA:404454"], "Department": null}
|
| 29 |
+
{"Phenotype": ["HP:0000252", "HP:0000286", "HP:0001252", "HP:0001263", "HP:0001395", "HP:0001511", "HP:0002353", "HP:0003196", "HP:0006579", "HP:0006956", "HP:0100022"], "RareDisease": ["OMIM:615273", "ORPHA:404454"], "Department": null}
|
| 30 |
+
{"Phenotype": ["HP:0000252", "HP:0000286", "HP:0000486", "HP:0000522", "HP:0000657", "HP:0001182", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001864", "HP:0002007", "HP:0002019", "HP:0002557", "HP:0002910", "HP:0005487", "HP:0006579", "HP:0010605", "HP:0010804", "HP:0011918"], "RareDisease": ["OMIM:615273", "ORPHA:404454"], "Department": null}
|
| 31 |
+
{"Phenotype": ["HP:0000252", "HP:0000431", "HP:0000486", "HP:0000495", "HP:0000520", "HP:0000522", "HP:0000657", "HP:0000678", "HP:0001250", "HP:0001252", "HP:0001263", "HP:0001315", "HP:0001511", "HP:0001773", "HP:0002019", "HP:0002353", "HP:0002553", "HP:0002650", "HP:0005320", "HP:0200055"], "RareDisease": ["OMIM:615273", "ORPHA:404454"], "Department": null}
|
| 32 |
+
{"Phenotype": ["HP:0000252", "HP:0000718", "HP:0001250", "HP:0010864"], "RareDisease": ["OMIM:604317", "ORPHA:2512"], "Department": null}
|
| 33 |
+
{"Phenotype": ["HP:0000639", "HP:0000648", "HP:0001252", "HP:0001254", "HP:0001260", "HP:0002066", "HP:0002370", "HP:0007965", "HP:0008619"], "RareDisease": ["OMIM:601338", "ORPHA:1171"], "Department": null}
|
| 34 |
+
{"Phenotype": ["HP:0000218", "HP:0000278", "HP:0000316", "HP:0000319", "HP:0000347", "HP:0000369", "HP:0000494", "HP:0000768", "HP:0001166", "HP:0001265", "HP:0001363", "HP:0001388", "HP:0001537", "HP:0001655", "HP:0001762", "HP:0001763", "HP:0002151", "HP:0002410", "HP:0002474", "HP:0002868", "HP:0003298", "HP:0003396", "HP:0006801", "HP:0006889", "HP:0010665", "HP:0011220"], "RareDisease": ["OMIM:182212", "ORPHA:2462"], "Department": null}
|
| 35 |
+
{"Phenotype": ["HP:0000218", "HP:0000286", "HP:0000316", "HP:0000322", "HP:0000348", "HP:0000463", "HP:0000954", "HP:0001252", "HP:0001263", "HP:0001344", "HP:0002007", "HP:0002079", "HP:0002282", "HP:0002912", "HP:0003196", "HP:0006956", "HP:0007793", "HP:0008070", "HP:0010055", "HP:0010804", "HP:0012120", "HP:0012448", "HP:0040155", "HP:0045034"], "RareDisease": ["OMIM:614105"], "Department": null}
|
| 36 |
+
{"Phenotype": ["HP:0000325", "HP:0000430", "HP:0000490", "HP:0000558", "HP:0000684", "HP:0004322", "HP:0007495", "HP:0009125"], "RareDisease": ["OMIM:269880", "ORPHA:3163"], "Department": null}
|
| 37 |
+
{"Phenotype": ["HP:0000085", "HP:0000179", "HP:0000215", "HP:0000252", "HP:0000348", "HP:0000490", "HP:0000545", "HP:0000582", "HP:0000670", "HP:0000689", "HP:0001643", "HP:0002342", "HP:0003189", "HP:0009765", "HP:0009890", "HP:0012745"], "RareDisease": ["OMIM:613680"], "Department": null}
|
| 38 |
+
{"Phenotype": ["HP:0000010", "HP:0000230", "HP:0000403", "HP:0001744", "HP:0001875", "HP:0001888", "HP:0004854", "HP:0004866", "HP:0005401", "HP:0012138"], "RareDisease": ["OMIM:612541", "CCRD:104"], "Department": null}
|
| 39 |
+
{"Phenotype": ["HP:0001539", "HP:0005214", "HP:0011100"], "RareDisease": ["OMIM:243150", "ORPHA:436252"], "Department": null}
|
| 40 |
+
{"Phenotype": ["HP:0000252", "HP:0000486", "HP:0000522", "HP:0000657", "HP:0001252", "HP:0001263", "HP:0001395", "HP:0001773", "HP:0002019", "HP:0002059", "HP:0002079", "HP:0002151", "HP:0002353", "HP:0002472", "HP:0002910", "HP:0006579", "HP:0006958", "HP:0010605", "HP:0030303", "HP:0100022", "HP:0200055"], "RareDisease": ["OMIM:615273", "ORPHA:404454"], "Department": null}
|
RDpatient_data/Public/RAMEDIS.jsonl
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|
|
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