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marfan_exportSAMS.json
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marfan_exportSAMS.json
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{
"id":"arbitrary.id",
"subject":{
"id":"proband ",
"sex":"FEMALE"
},
"phenotypicFeatures":[
{
"type":{
"id":"HP:0002616",
"label":"Aortic root aneurysm"
},
"onset":{
"timestamp":"2019-03-19T00:00:00Z"
}
},
{
"type":{
"id":"HP:0001166",
"label":"Arachnodactyly"
},
"onset":{
"timestamp":"2019-03-19T00:00:00Z"
}
},
{
"type":{
"id":"HP:0030961",
"label":"Microspherophakia"
},
"onset":{
"timestamp":"2019-03-19T00:00:00Z"
},
"excluded":true
},
{
"type":{
"id":"HP:0001166",
"label":"Arachnodactyly"
},
"onset":{
"timestamp":"2019-03-18T00:00:00Z"
}
},
{
"type":{
"id":"HP:0004421",
"label":"Elevated systolic blood pressure"
},
"onset":{
"timestamp":"2019-03-18T00:00:00Z"
}
},
{
"type":{
"id":"HP:0030961",
"label":"Microspherophakia"
},
"onset":{
"timestamp":"2019-03-18T00:00:00Z"
},
"excluded":true
},
{
"type":{
"id":"HP:0032441",
"label":"Blood group AB"
},
"onset":{
"timestamp":"1900-01-01T00:00:00Z"
}
}
],
"diseases":[
{
"term":{
"id":"OMIM:154700",
"label":"MARFAN SYNDROME; MFS"
},
"onset":{
"timestamp":"2019-03-19T00:00:00Z"
}
},
{
"term":{
"id":"OMIM:154700",
"label":"MARFAN SYNDROME; MFS"
},
"onset":{
"timestamp":"2019-03-18T00:00:00Z"
}
}
],
"metaData":{
"created":"2022-05-07T11:30:18Z",
"createdBy":"[email protected]",
"resources":[
{
"id":"hp",
"name":"human phenotype ontology",
"url":"http://purl.obolibrary.org/obo/hp.obo",
"version":"placeholder",
"namespacePrefix":"HP",
"iriPrefix":"http://purl.obolibrary.org/obo/HP_"
},
{
"id":"omim",
"name":"online mendelian inheritance in man",
"url":"https://omim.org",
"version":"placeholder",
"namespacePrefix":"OMIM",
"iriPrefix":"https://omim.org/entry/"
}
],
"phenopacketSchemaVersion":"2.0"
}
}