annotate test-data/EGAF00005572727.json @ 0:ba4ed464f8b6 draft

planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a

{
  "phenopacket": {
    "id": "P0007498",
    "subject": {
      "id": "P0007498",
      "dateOfBirth": "2013-01-01T00:00:00Z",
      "sex": "MALE"
    },
    "phenotypicFeatures": [
      {
        "negated": true,
        "type": {
          "id": "HP:0001249",
          "label": "Intellectual disability"
        }
      },
      {
        "type": {
          "id": "HP:0000467",
          "label": "Neck muscle weakness"
        }
      },
      {
        "type": {
          "id": "HP:0001252",
          "label": "Muscular hypotonia"
        }
      },
      {
        "type": {
          "id": "HP:0001319",
          "label": "Neonatal hypotonia"
        }
      },
      {
        "type": {
          "id": "HP:0001374",
          "label": "Congenital hip dislocation"
        }
      },
      {
        "type": {
          "id": "HP:0002540",
          "label": "Inability to walk"
        }
      },
      {
        "type": {
          "id": "HP:0002783",
          "label": "Recurrent lower respiratory tract infections"
        }
      },
      {
        "type": {
          "id": "HP:0002804",
          "label": "Arthrogryposis multiplex congenita"
        }
      },
      {
        "type": {
          "id": "HP:0003202",
          "label": "Skeletal muscle atrophy"
        }
      },
      {
        "type": {
          "id": "HP:0005684",
          "label": "Distal arthrogryposis"
        }
      },
      {
        "type": {
          "id": "HP:0030319",
          "label": "Weakness of facial musculature"
        }
      }
    ],
    "diseases": [
      {
        "term": {
          "id": "Orphanet:97245",
          "label": "Congenital myopathy"
        }
      },
      {
        "term": {
          "id": "OMIM:117000",
          "label": "CENTRAL CORE DISEASE OF MUSCLE"
        }
      }
    ],
    "genes": [],
    "variants": [],
    "meta_data": {
      "created": "2021-04-21T09:32:38.488Z",
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          "id": "hgnc",
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      ]
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  },
  "interpretation": {
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    "resolutionStatus": "SOLVED",
    "phenopacket": {
      "id": "P0007498",
      "subject": {
        "id": "P0007498",
        "dateOfBirth": "2013-01-01T00:00:00Z",
        "sex": "MALE"
      },
      "phenotypicFeatures": [
        {
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            "label": "Intellectual disability"
          }
        },
        {
          "type": {
            "id": "HP:0000467",
            "label": "Neck muscle weakness"
          }
        },
        {
          "type": {
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            "label": "Muscular hypotonia"
          }
        },
        {
          "type": {
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            "label": "Neonatal hypotonia"
          }
        },
        {
          "type": {
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            "label": "Congenital hip dislocation"
          }
        },
        {
          "type": {
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            "label": "Inability to walk"
          }
        },
        {
          "type": {
            "id": "HP:0002783",
            "label": "Recurrent lower respiratory tract infections"
          }
        },
        {
          "type": {
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          }
        },
        {
          "type": {
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            "label": "Skeletal muscle atrophy"
          }
        },
        {
          "type": {
            "id": "HP:0005684",
            "label": "Distal arthrogryposis"
          }
        },
        {
          "type": {
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            "label": "Weakness of facial musculature"
          }
        }
      ],
      "diseases": [
        {
          "term": {
            "id": "Orphanet:97245",
            "label": "Congenital myopathy"
          }
        },
        {
          "term": {
            "id": "OMIM:117000",
            "label": "CENTRAL CORE DISEASE OF MUSCLE"
          }
        }
      ],
      "genes": [],
      "variants": [],
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          },
          {
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          },
          {
            "id": "hgnc",
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            "namespacePrefix": "HGNC",
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          },
          {
            "id": "mim",
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            "url": "https://omim.org/",
            "version": "2021-01-21",
            "namespacePrefix": "OMIM",
            "iriPrefix": "https://omim.org/entry/"
          }
        ]
      }
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    "diagnosis": [],
    "meta_data": {}
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}