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view test-data/EGAF00005572861.json @ 0:0a757835a745 draft

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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
author iuc
date Sun, 01 Oct 2023 16:30:21 +0000
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{
  "phenopacket": {
    "id": "P0007507",
    "subject": {
      "id": "P0007507",
      "dateOfBirth": "2012-01-01T00:00:00Z",
      "sex": "MALE"
    },
    "phenotypicFeatures": [
      {
        "negated": true,
        "type": {
          "id": "HP:0007281",
          "label": "Developmental stagnation"
        }
      },
      {
        "type": {
          "id": "HP:0000252",
          "label": "Microcephaly"
        }
      },
      {
        "type": {
          "id": "HP:0001250",
          "label": "Seizures"
        }
      },
      {
        "type": {
          "id": "HP:0001270",
          "label": "Motor delay"
        }
      },
      {
        "type": {
          "id": "HP:0002013",
          "label": "Vomiting"
        }
      },
      {
        "type": {
          "id": "HP:0002240",
          "label": "Hepatomegaly"
        }
      },
      {
        "type": {
          "id": "HP:0002333",
          "label": "Motor deterioration"
        }
      },
      {
        "type": {
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      },
      {
        "type": {
          "id": "HP:0002490",
          "label": "Increased CSF lactate"
        }
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      {
        "type": {
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          "label": "Increased CSF protein"
        }
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      {
        "type": {
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          "label": "Lactic acidosis"
        }
      },
      {
        "type": {
          "id": "HP:0003390",
          "label": "Sensory axonal neuropathy"
        }
      },
      {
        "type": {
          "id": "HP:0003739",
          "label": "Myoclonic spasms"
        }
      },
      {
        "type": {
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          "label": "Decreased body weight"
        }
      },
      {
        "type": {
          "id": "HP:0006887",
          "label": "Intellectual disability, progressive"
        }
      },
      {
        "type": {
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          "label": "Motor axonal neuropathy"
        }
      },
      {
        "type": {
          "id": "HP:0012758",
          "label": "Neurodevelopmental delay"
        }
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      {
        "type": {
          "id": "HP:0100543",
          "label": "Cognitive impairment"
        }
      },
      {
        "type": {
          "id": "HP:0200134",
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        }
      }
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    "diseases": [],
    "genes": [
      {
        "id": "HGNC:",
        "symbol": "OPA1"
      }
    ],
    "variants": [],
    "meta_data": {
      "created": "2021-04-21T09:42:24.702Z",
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          "id": "hp",
          "name": "Human Phenotype Ontology",
          "url": "http://purl.obolibrary.org/obo/hp.owl",
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          "name": "Orphanet Rare Disease Ontology",
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        },
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          "version": "2021-01-21",
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  "interpretation": {
    "id": "P0007507",
    "resolutionStatus": "SOLVED",
    "phenopacket": {
      "id": "P0007507",
      "subject": {
        "id": "P0007507",
        "dateOfBirth": "2012-01-01T00:00:00Z",
        "sex": "MALE"
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        {
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          }
        },
        {
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          }
        },
        {
          "type": {
            "id": "HP:0002013",
            "label": "Vomiting"
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        {
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        {
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        },
        {
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        },
        {
          "type": {
            "id": "HP:0002490",
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        },
        {
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        },
        {
          "type": {
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        },
        {
          "type": {
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        },
        {
          "type": {
            "id": "HP:0003739",
            "label": "Myoclonic spasms"
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        },
        {
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            "label": "Decreased body weight"
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        },
        {
          "type": {
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          }
        },
        {
          "type": {
            "id": "HP:0007002",
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          }
        },
        {
          "type": {
            "id": "HP:0012758",
            "label": "Neurodevelopmental delay"
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        {
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        },
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          "symbol": "OPA1"
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      "variants": [],
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            "version": "2021-01-13",
            "namespacePrefix": "HGNC",
            "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
          },
          {
            "id": "mim",
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            "version": "2021-01-21",
            "namespacePrefix": "OMIM",
            "iriPrefix": "https://omim.org/entry/"
          }
        ]
      }
    },
    "diagnosis": [],
    "meta_data": {}
  }
}