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"age"
: {
"iso8601duration"
:
"P52Y2M"
}
},
"tumorProgression"
: {
"id"
:
"NCIT:C3261"
,
"label"
:
"Metastatic Neoplasm"
}
}
],
"files"
: [
{
"fileAttributes"
: {
"description"
:
"Matched normal germline sample"
,
"fileFormat"
:
"vcf"
,
"genomeAssembly"
:
"GRCh38"
},
"individualToFileIdentifiers"
: {
"example case"
:
"NA12345"
},
}
],
"metaData"
: {
"created"
:
"2021-05-14T10:35:00Z"
,
"createdBy"
:
"anonymous biocurator"
,
"phenopacketSchemaVersion"
:
"2.0.0"
,
"resources"
: [
{
"id"
:
"ncit"
,
"name"
:
"NCI Thesaurus"
,
"namespacePrefix"
:
"NCIT"
,
"version"
:
"21.05d"
},
{
"id"
:
"efo"
,
"name"
:
"Experimental Factor Ontology"
,
"namespacePrefix"
:
"EFO"
,
"version"
:
"3.34.0"
},
{
"id"
:
"uberon"
,
"name"
:
"Uber-anatomy ontology"
,
"namespacePrefix"
:
"UBERON"
,
"version"
:
"2021-07-27"
},
{
"id"
:
"ncbitaxon"
,
"name"
:
"NCBI organismal classification"
,
"namespacePrefix"
:
"NCBITaxon"
,
"version"
:
"2021-06-10"
},
{
"id"
:
"hp"
,
"name"
:
"human phenotype ontology"
,
"namespacePrefix"
:
"HP"
,
"version"
:
"2022-06-11"
}
]
}
}
},
"karyotypicSex"
:
"UNKNOWN_KARYOTYPE"
,
"phenotypicFeatures"
: [
{
"excluded"
:
false
,
"featureType"
: {
"id"
:
"HP:0100518"
,
"label"
:
"Dysuria"
},
"severity"
: {
"id"
:
"HP:0012828"
,
"label"
:
"Severe"
}
},
{
"excluded"
:
false
,
"featureType"
: {
"id"
:
"HP:0000790"
,
"label"
:
"Hematuria"
}
}
],
"sex"
: {
"id"
:
"NCIT:C20197"
,
"label"
:
"Male"
}
},
{
"diseases"
: [
{
"ageOfOnset"
: {
"age"
: {
"iso8601duration"
:
"P4D"
}
},
"diseaseCode"
: {
"id"
:
"MONDO:0016649"
,
"label"
:
"Warburg micro syndrome"
},
"excluded"
:
false
}
],
"id"
:
"case1"
,
"info"
: {
"phenopacket"
: {
"metaData"
: {
"created"
:
"2022-04-17T10:35:00Z"
,
"createdBy"
:
"biocurator"
,
"phenopacketSchemaVersion"
:
"2.0.0"
,
"resources"
: [
{
"id"
:
"hp"
,
"name"
:
"human phenotype ontology"
,
"namespacePrefix"
:
"HP"
,
"version"
:
"2022-04-15"
},
{
"id"
:
"mondo"
,
"name"
:
"Mondo Disease Ontology"
,
"namespacePrefix"
:
"MONDO"
,
"version"
:
"v2022-04-04"
}
]
}
}
},
"karyotypicSex"
:
"UNKNOWN_KARYOTYPE"
,
"phenotypicFeatures"
: [
{
"excluded"
:
false
,
"featureType"
: {
"id"
:
"HP:0034248"
,
"label"
:
"Increased fetal lens echogenicity"
},
"onset"
: {
"gestationalAge"
: {
"days"
: 2,
"weeks"
: 27
}
}
},
{
"excluded"
:
true
,
"featureType"
: {
"id"
:
"HP:0000568"
,
"label"
:
"Microphthalmia"
},
"onset"
: {
"gestationalAge"
: {
"days"
: 2,
"weeks"
: 27
}
}
},
{
"excluded"
:
false
,
"featureType"
: {
"id"
:
"HP:0000369"
,
"label"
:
"Low-set ears"
},
"onset"
: {
"age"
: {
"iso8601duration"
:
"P4D"
}
}
},
{
"excluded"
:
false
,
"featureType"
: {
"id"
:
"HP:0008936"
,
"label"
:
"Axial hypotonia"
},
"onset"
: {
"age"
: {
"iso8601duration"
:
"P4D"
}
}
},
{
"excluded"
:
false
,
"featureType"
: {
"id"
:
"HP:0000568"
,
"label"
:
"Microphthalmia"
},
"onset"
: {
"age"
: {
"iso8601duration"
:
"P4D"
}
}
}
],
"sex"
: {
"id"
:
"NCIT:C20197"
,
"label"
:
"Male"
}
}
]