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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 16:30:46 +0000
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{
  "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",
      "resources": [
        {
          "id": "hp",
          "name": "Human Phenotype Ontology",
          "url": "http://purl.obolibrary.org/obo/hp.owl",
          "version": "2020-12-07",
          "namespacePrefix": "HP",
          "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
        },
        {
          "id": "orphanet",
          "name": "Orphanet Rare Disease Ontology",
          "url": "http://orpha.net/ontology/ORDO_en_3.1.owl",
          "version": "3.1",
          "namespacePrefix": "Orphanet",
          "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_"
        },
        {
          "id": "hgnc",
          "name": "HUGO Gene Nomenclature Committee",
          "url": "https://www.genenames.org",
          "version": "2021-01-13",
          "namespacePrefix": "HGNC",
          "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
        },
        {
          "id": "mim",
          "name": "Online Mendelian Inheritance in Man",
          "url": "https://omim.org/",
          "version": "2021-01-21",
          "namespacePrefix": "OMIM",
          "iriPrefix": "https://omim.org/entry/"
        }
      ]
    }
  },
  "interpretation": {
    "id": "P0007498",
    "resolutionStatus": "SOLVED",
    "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",
        "resources": [
          {
            "id": "hp",
            "name": "Human Phenotype Ontology",
            "url": "http://purl.obolibrary.org/obo/hp.owl",
            "version": "2020-12-07",
            "namespacePrefix": "HP",
            "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
          },
          {
            "id": "orphanet",
            "name": "Orphanet Rare Disease Ontology",
            "url": "http://orpha.net/ontology/ORDO_en_3.1.owl",
            "version": "3.1",
            "namespacePrefix": "Orphanet",
            "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_"
          },
          {
            "id": "hgnc",
            "name": "HUGO Gene Nomenclature Committee",
            "url": "https://www.genenames.org",
            "version": "2021-01-13",
            "namespacePrefix": "HGNC",
            "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
          },
          {
            "id": "mim",
            "name": "Online Mendelian Inheritance in Man",
            "url": "https://omim.org/",
            "version": "2021-01-21",
            "namespacePrefix": "OMIM",
            "iriPrefix": "https://omim.org/entry/"
          }
        ]
      }
    },
    "diagnosis": [],
    "meta_data": {}
  }
}