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

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
parents
children
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--- /dev/null	Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/EGAF00005572727.json	Sun Oct 01 16:30:46 2023 +0000
@@ -0,0 +1,268 @@
+{
+  "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": {}
+  }
+}
\ No newline at end of file