Mercurial > repos > iuc > beacon2_csv2xlsx
comparison 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 |
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date | Sun, 01 Oct 2023 16:30:46 +0000 |
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-1:000000000000 | 0:ba4ed464f8b6 |
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1 { | |
2 "phenopacket": { | |
3 "id": "P0007498", | |
4 "subject": { | |
5 "id": "P0007498", | |
6 "dateOfBirth": "2013-01-01T00:00:00Z", | |
7 "sex": "MALE" | |
8 }, | |
9 "phenotypicFeatures": [ | |
10 { | |
11 "negated": true, | |
12 "type": { | |
13 "id": "HP:0001249", | |
14 "label": "Intellectual disability" | |
15 } | |
16 }, | |
17 { | |
18 "type": { | |
19 "id": "HP:0000467", | |
20 "label": "Neck muscle weakness" | |
21 } | |
22 }, | |
23 { | |
24 "type": { | |
25 "id": "HP:0001252", | |
26 "label": "Muscular hypotonia" | |
27 } | |
28 }, | |
29 { | |
30 "type": { | |
31 "id": "HP:0001319", | |
32 "label": "Neonatal hypotonia" | |
33 } | |
34 }, | |
35 { | |
36 "type": { | |
37 "id": "HP:0001374", | |
38 "label": "Congenital hip dislocation" | |
39 } | |
40 }, | |
41 { | |
42 "type": { | |
43 "id": "HP:0002540", | |
44 "label": "Inability to walk" | |
45 } | |
46 }, | |
47 { | |
48 "type": { | |
49 "id": "HP:0002783", | |
50 "label": "Recurrent lower respiratory tract infections" | |
51 } | |
52 }, | |
53 { | |
54 "type": { | |
55 "id": "HP:0002804", | |
56 "label": "Arthrogryposis multiplex congenita" | |
57 } | |
58 }, | |
59 { | |
60 "type": { | |
61 "id": "HP:0003202", | |
62 "label": "Skeletal muscle atrophy" | |
63 } | |
64 }, | |
65 { | |
66 "type": { | |
67 "id": "HP:0005684", | |
68 "label": "Distal arthrogryposis" | |
69 } | |
70 }, | |
71 { | |
72 "type": { | |
73 "id": "HP:0030319", | |
74 "label": "Weakness of facial musculature" | |
75 } | |
76 } | |
77 ], | |
78 "diseases": [ | |
79 { | |
80 "term": { | |
81 "id": "Orphanet:97245", | |
82 "label": "Congenital myopathy" | |
83 } | |
84 }, | |
85 { | |
86 "term": { | |
87 "id": "OMIM:117000", | |
88 "label": "CENTRAL CORE DISEASE OF MUSCLE" | |
89 } | |
90 } | |
91 ], | |
92 "genes": [], | |
93 "variants": [], | |
94 "meta_data": { | |
95 "created": "2021-04-21T09:32:38.488Z", | |
96 "resources": [ | |
97 { | |
98 "id": "hp", | |
99 "name": "Human Phenotype Ontology", | |
100 "url": "http://purl.obolibrary.org/obo/hp.owl", | |
101 "version": "2020-12-07", | |
102 "namespacePrefix": "HP", | |
103 "iriPrefix": "http://purl.obolibrary.org/obo/HP_" | |
104 }, | |
105 { | |
106 "id": "orphanet", | |
107 "name": "Orphanet Rare Disease Ontology", | |
108 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl", | |
109 "version": "3.1", | |
110 "namespacePrefix": "Orphanet", | |
111 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_" | |
112 }, | |
113 { | |
114 "id": "hgnc", | |
115 "name": "HUGO Gene Nomenclature Committee", | |
116 "url": "https://www.genenames.org", | |
117 "version": "2021-01-13", | |
118 "namespacePrefix": "HGNC", | |
119 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" | |
120 }, | |
121 { | |
122 "id": "mim", | |
123 "name": "Online Mendelian Inheritance in Man", | |
124 "url": "https://omim.org/", | |
125 "version": "2021-01-21", | |
126 "namespacePrefix": "OMIM", | |
127 "iriPrefix": "https://omim.org/entry/" | |
128 } | |
129 ] | |
130 } | |
131 }, | |
132 "interpretation": { | |
133 "id": "P0007498", | |
134 "resolutionStatus": "SOLVED", | |
135 "phenopacket": { | |
136 "id": "P0007498", | |
137 "subject": { | |
138 "id": "P0007498", | |
139 "dateOfBirth": "2013-01-01T00:00:00Z", | |
140 "sex": "MALE" | |
141 }, | |
142 "phenotypicFeatures": [ | |
143 { | |
144 "negated": true, | |
145 "type": { | |
146 "id": "HP:0001249", | |
147 "label": "Intellectual disability" | |
148 } | |
149 }, | |
150 { | |
151 "type": { | |
152 "id": "HP:0000467", | |
153 "label": "Neck muscle weakness" | |
154 } | |
155 }, | |
156 { | |
157 "type": { | |
158 "id": "HP:0001252", | |
159 "label": "Muscular hypotonia" | |
160 } | |
161 }, | |
162 { | |
163 "type": { | |
164 "id": "HP:0001319", | |
165 "label": "Neonatal hypotonia" | |
166 } | |
167 }, | |
168 { | |
169 "type": { | |
170 "id": "HP:0001374", | |
171 "label": "Congenital hip dislocation" | |
172 } | |
173 }, | |
174 { | |
175 "type": { | |
176 "id": "HP:0002540", | |
177 "label": "Inability to walk" | |
178 } | |
179 }, | |
180 { | |
181 "type": { | |
182 "id": "HP:0002783", | |
183 "label": "Recurrent lower respiratory tract infections" | |
184 } | |
185 }, | |
186 { | |
187 "type": { | |
188 "id": "HP:0002804", | |
189 "label": "Arthrogryposis multiplex congenita" | |
190 } | |
191 }, | |
192 { | |
193 "type": { | |
194 "id": "HP:0003202", | |
195 "label": "Skeletal muscle atrophy" | |
196 } | |
197 }, | |
198 { | |
199 "type": { | |
200 "id": "HP:0005684", | |
201 "label": "Distal arthrogryposis" | |
202 } | |
203 }, | |
204 { | |
205 "type": { | |
206 "id": "HP:0030319", | |
207 "label": "Weakness of facial musculature" | |
208 } | |
209 } | |
210 ], | |
211 "diseases": [ | |
212 { | |
213 "term": { | |
214 "id": "Orphanet:97245", | |
215 "label": "Congenital myopathy" | |
216 } | |
217 }, | |
218 { | |
219 "term": { | |
220 "id": "OMIM:117000", | |
221 "label": "CENTRAL CORE DISEASE OF MUSCLE" | |
222 } | |
223 } | |
224 ], | |
225 "genes": [], | |
226 "variants": [], | |
227 "meta_data": { | |
228 "created": "2021-04-21T09:32:38.488Z", | |
229 "resources": [ | |
230 { | |
231 "id": "hp", | |
232 "name": "Human Phenotype Ontology", | |
233 "url": "http://purl.obolibrary.org/obo/hp.owl", | |
234 "version": "2020-12-07", | |
235 "namespacePrefix": "HP", | |
236 "iriPrefix": "http://purl.obolibrary.org/obo/HP_" | |
237 }, | |
238 { | |
239 "id": "orphanet", | |
240 "name": "Orphanet Rare Disease Ontology", | |
241 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl", | |
242 "version": "3.1", | |
243 "namespacePrefix": "Orphanet", | |
244 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_" | |
245 }, | |
246 { | |
247 "id": "hgnc", | |
248 "name": "HUGO Gene Nomenclature Committee", | |
249 "url": "https://www.genenames.org", | |
250 "version": "2021-01-13", | |
251 "namespacePrefix": "HGNC", | |
252 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/" | |
253 }, | |
254 { | |
255 "id": "mim", | |
256 "name": "Online Mendelian Inheritance in Man", | |
257 "url": "https://omim.org/", | |
258 "version": "2021-01-21", | |
259 "namespacePrefix": "OMIM", | |
260 "iriPrefix": "https://omim.org/entry/" | |
261 } | |
262 ] | |
263 } | |
264 }, | |
265 "diagnosis": [], | |
266 "meta_data": {} | |
267 } | |
268 } |