Mercurial > repos > iuc > beacon2_csv2xlsx
diff test-data/EGAF00005572861.json @ 0:4509627e6ee1 draft default tip
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2 commit dcaf8046840f163143075b276dd75909d344ec3a
| author | iuc |
|---|---|
| date | Sun, 01 Oct 2023 16:29:22 +0000 |
| parents | |
| children |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/EGAF00005572861.json Sun Oct 01 16:29:22 2023 +0000 @@ -0,0 +1,348 @@ +{ + "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": { + "id": "HP:0002376", + "label": "Developmental regression" + } + }, + { + "type": { + "id": "HP:0002490", + "label": "Increased CSF lactate" + } + }, + { + "type": { + "id": "HP:0002922", + "label": "Increased CSF protein" + } + }, + { + "type": { + "id": "HP:0003128", + "label": "Lactic acidosis" + } + }, + { + "type": { + "id": "HP:0003390", + "label": "Sensory axonal neuropathy" + } + }, + { + "type": { + "id": "HP:0003739", + "label": "Myoclonic spasms" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0006887", + "label": "Intellectual disability, progressive" + } + }, + { + "type": { + "id": "HP:0007002", + "label": "Motor axonal neuropathy" + } + }, + { + "type": { + "id": "HP:0012758", + "label": "Neurodevelopmental delay" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0200134", + "label": "Epileptic encephalopathy" + } + } + ], + "diseases": [], + "genes": [ + { + "id": "HGNC:", + "symbol": "OPA1" + } + ], + "variants": [], + "meta_data": { + "created": "2021-04-21T09:42:24.702Z", + "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": "P0007507", + "resolutionStatus": "SOLVED", + "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": { + "id": "HP:0002376", + "label": "Developmental regression" + } + }, + { + "type": { + "id": "HP:0002490", + "label": "Increased CSF lactate" + } + }, + { + "type": { + "id": "HP:0002922", + "label": "Increased CSF protein" + } + }, + { + "type": { + "id": "HP:0003128", + "label": "Lactic acidosis" + } + }, + { + "type": { + "id": "HP:0003390", + "label": "Sensory axonal neuropathy" + } + }, + { + "type": { + "id": "HP:0003739", + "label": "Myoclonic spasms" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0006887", + "label": "Intellectual disability, progressive" + } + }, + { + "type": { + "id": "HP:0007002", + "label": "Motor axonal neuropathy" + } + }, + { + "type": { + "id": "HP:0012758", + "label": "Neurodevelopmental delay" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0200134", + "label": "Epileptic encephalopathy" + } + } + ], + "diseases": [], + "genes": [ + { + "id": "HGNC:", + "symbol": "OPA1" + } + ], + "variants": [], + "meta_data": { + "created": "2021-04-21T09:42:24.702Z", + "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