Mercurial > repos > iuc > beacon2_csv2xlsx

comparison test-data/EGAF00005572896.json @ 0:4509627e6ee1 draft default tip

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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 16:29:22 +0000
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-1:000000000000 0:4509627e6ee1
1 {
2 "phenopacket": {
3 "id": "P0130406",
4 "subject": {
5 "id": "P0130406",
6 "dateOfBirth": "2019-01-01T00:00:00Z",
7 "sex": "MALE"
8 },
9 "phenotypicFeatures": [
10 {
11 "type": {
12 "id": "HP:0000467",
13 "label": "Neck muscle weakness"
14 }
15 },
16 {
17 "type": {
18 "id": "HP:0005684",
19 "label": "Distal arthrogryposis"
20 }
21 },
22 {
23 "type": {
24 "id": "HP:0008936",
25 "label": "Muscular hypotonia of the trunk"
26 }
27 },
28 {
29 "type": {
30 "id": "HP:0003202",
31 "label": "Skeletal muscle atrophy"
32 }
33 },
34 {
35 "type": {
36 "id": "HP:0001319",
37 "label": "Neonatal hypotonia"
38 }
39 }
40 ],
41 "diseases": [
42 {
43 "term": {
44 "id": "Orphanet:97245",
45 "label": "Congenital myopathy"
46 }
47 }
48 ],
49 "genes": [],
50 "variants": [],
51 "meta_data": {
52 "created": "2021-04-21T09:50:13.849Z",
53 "resources": [
54 {
55 "id": "hp",
56 "name": "Human Phenotype Ontology",
57 "url": "http://purl.obolibrary.org/obo/hp.owl",
58 "version": "2020-12-07",
59 "namespacePrefix": "HP",
60 "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
61 },
62 {
63 "id": "orphanet",
64 "name": "Orphanet Rare Disease Ontology",
65 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl",
66 "version": "3.1",
67 "namespacePrefix": "Orphanet",
68 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_"
69 },
70 {
71 "id": "hgnc",
72 "name": "HUGO Gene Nomenclature Committee",
73 "url": "https://www.genenames.org",
74 "version": "2021-01-13",
75 "namespacePrefix": "HGNC",
76 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
77 },
78 {
79 "id": "mim",
80 "name": "Online Mendelian Inheritance in Man",
81 "url": "https://omim.org/",
82 "version": "2021-01-21",
83 "namespacePrefix": "OMIM",
84 "iriPrefix": "https://omim.org/entry/"
85 }
86 ]
87 }
88 },
89 "interpretation": {
90 "id": "P0130406",
91 "resolutionStatus": "UNSOLVED",
92 "phenopacket": {
93 "id": "P0130406",
94 "subject": {
95 "id": "P0130406",
96 "dateOfBirth": "2019-01-01T00:00:00Z",
97 "sex": "MALE"
98 },
99 "phenotypicFeatures": [
100 {
101 "type": {
102 "id": "HP:0000467",
103 "label": "Neck muscle weakness"
104 }
105 },
106 {
107 "type": {
108 "id": "HP:0005684",
109 "label": "Distal arthrogryposis"
110 }
111 },
112 {
113 "type": {
114 "id": "HP:0008936",
115 "label": "Muscular hypotonia of the trunk"
116 }
117 },
118 {
119 "type": {
120 "id": "HP:0003202",
121 "label": "Skeletal muscle atrophy"
122 }
123 },
124 {
125 "type": {
126 "id": "HP:0001319",
127 "label": "Neonatal hypotonia"
128 }
129 }
130 ],
131 "diseases": [
132 {
133 "term": {
134 "id": "Orphanet:97245",
135 "label": "Congenital myopathy"
136 }
137 }
138 ],
139 "genes": [],
140 "variants": [],
141 "meta_data": {
142 "created": "2021-04-21T09:50:13.849Z",
143 "resources": [
144 {
145 "id": "hp",
146 "name": "Human Phenotype Ontology",
147 "url": "http://purl.obolibrary.org/obo/hp.owl",
148 "version": "2020-12-07",
149 "namespacePrefix": "HP",
150 "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
151 },
152 {
153 "id": "orphanet",
154 "name": "Orphanet Rare Disease Ontology",
155 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl",
156 "version": "3.1",
157 "namespacePrefix": "Orphanet",
158 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_"
159 },
160 {
161 "id": "hgnc",
162 "name": "HUGO Gene Nomenclature Committee",
163 "url": "https://www.genenames.org",
164 "version": "2021-01-13",
165 "namespacePrefix": "HGNC",
166 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
167 },
168 {
169 "id": "mim",
170 "name": "Online Mendelian Inheritance in Man",
171 "url": "https://omim.org/",
172 "version": "2021-01-21",
173 "namespacePrefix": "OMIM",
174 "iriPrefix": "https://omim.org/entry/"
175 }
176 ]
177 }
178 },
179 "diagnosis": [],
180 "meta_data": {}
181 }
182 }