PubCaseFinder is a diagnostic assistance system that enables clinicians to match structured phenotype profiles - and associated genes - against previously published case reports and receive a ranked list of possible disease diagnosis.
HTTP POST request to https://pubcasefinder.dbcls.jp/mme/match, with an application/json body with the following format:
https://github.com/ga4gh/mme-apis/blob/master/search-api.md
A synchronous application/json response, of the following form:
{
"results": [
{
"patient": {
"contact": {
"href": "https://pubcasefinder.dbcls.jp/disease_casereport/disease:ORDO:2573/phenotype:HP:0001009,HP:0001249,HP:0001250,HP:0002072,HP:0002315/gene:/page:1/size:20",
"name": "PubCaseFinder"
},
"features": [
{
"id": "HP:0002072"
},
{
"id": "HP:0001249"
},
{
"id": "HP:0002076"
},
{
"id": "HP:0001250"
},
{
"id": "HP:0001009"
}
],
"genomicFeatures": [
{
"gene": {
"id": "ENSG00000107796",
"label": "ACTA2"
}
}
],
"id": "ORDO:2573",
"label": "Moyamoya disease"
},
"score": {
"patient": 1.0
}
},
…
]
}