Mercurial > repos > iuc > beacon2_csv2xlsx

comparison test-data/EGAF00005572861.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": "P0007507",
4 "subject": {
5 "id": "P0007507",
6 "dateOfBirth": "2012-01-01T00:00:00Z",
7 "sex": "MALE"
8 },
9 "phenotypicFeatures": [
10 {
11 "negated": true,
12 "type": {
13 "id": "HP:0007281",
14 "label": "Developmental stagnation"
15 }
16 },
17 {
18 "type": {
19 "id": "HP:0000252",
20 "label": "Microcephaly"
21 }
22 },
23 {
24 "type": {
25 "id": "HP:0001250",
26 "label": "Seizures"
27 }
28 },
29 {
30 "type": {
31 "id": "HP:0001270",
32 "label": "Motor delay"
33 }
34 },
35 {
36 "type": {
37 "id": "HP:0002013",
38 "label": "Vomiting"
39 }
40 },
41 {
42 "type": {
43 "id": "HP:0002240",
44 "label": "Hepatomegaly"
45 }
46 },
47 {
48 "type": {
49 "id": "HP:0002333",
50 "label": "Motor deterioration"
51 }
52 },
53 {
54 "type": {
55 "id": "HP:0002376",
56 "label": "Developmental regression"
57 }
58 },
59 {
60 "type": {
61 "id": "HP:0002490",
62 "label": "Increased CSF lactate"
63 }
64 },
65 {
66 "type": {
67 "id": "HP:0002922",
68 "label": "Increased CSF protein"
69 }
70 },
71 {
72 "type": {
73 "id": "HP:0003128",
74 "label": "Lactic acidosis"
75 }
76 },
77 {
78 "type": {
79 "id": "HP:0003390",
80 "label": "Sensory axonal neuropathy"
81 }
82 },
83 {
84 "type": {
85 "id": "HP:0003739",
86 "label": "Myoclonic spasms"
87 }
88 },
89 {
90 "type": {
91 "id": "HP:0004325",
92 "label": "Decreased body weight"
93 }
94 },
95 {
96 "type": {
97 "id": "HP:0006887",
98 "label": "Intellectual disability, progressive"
99 }
100 },
101 {
102 "type": {
103 "id": "HP:0007002",
104 "label": "Motor axonal neuropathy"
105 }
106 },
107 {
108 "type": {
109 "id": "HP:0012758",
110 "label": "Neurodevelopmental delay"
111 }
112 },
113 {
114 "type": {
115 "id": "HP:0100543",
116 "label": "Cognitive impairment"
117 }
118 },
119 {
120 "type": {
121 "id": "HP:0200134",
122 "label": "Epileptic encephalopathy"
123 }
124 }
125 ],
126 "diseases": [],
127 "genes": [
128 {
129 "id": "HGNC:",
130 "symbol": "OPA1"
131 }
132 ],
133 "variants": [],
134 "meta_data": {
135 "created": "2021-04-21T09:42:24.702Z",
136 "resources": [
137 {
138 "id": "hp",
139 "name": "Human Phenotype Ontology",
140 "url": "http://purl.obolibrary.org/obo/hp.owl",
141 "version": "2020-12-07",
142 "namespacePrefix": "HP",
143 "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
144 },
145 {
146 "id": "orphanet",
147 "name": "Orphanet Rare Disease Ontology",
148 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl",
149 "version": "3.1",
150 "namespacePrefix": "Orphanet",
151 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_"
152 },
153 {
154 "id": "hgnc",
155 "name": "HUGO Gene Nomenclature Committee",
156 "url": "https://www.genenames.org",
157 "version": "2021-01-13",
158 "namespacePrefix": "HGNC",
159 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
160 },
161 {
162 "id": "mim",
163 "name": "Online Mendelian Inheritance in Man",
164 "url": "https://omim.org/",
165 "version": "2021-01-21",
166 "namespacePrefix": "OMIM",
167 "iriPrefix": "https://omim.org/entry/"
168 }
169 ]
170 }
171 },
172 "interpretation": {
173 "id": "P0007507",
174 "resolutionStatus": "SOLVED",
175 "phenopacket": {
176 "id": "P0007507",
177 "subject": {
178 "id": "P0007507",
179 "dateOfBirth": "2012-01-01T00:00:00Z",
180 "sex": "MALE"
181 },
182 "phenotypicFeatures": [
183 {
184 "negated": true,
185 "type": {
186 "id": "HP:0007281",
187 "label": "Developmental stagnation"
188 }
189 },
190 {
191 "type": {
192 "id": "HP:0000252",
193 "label": "Microcephaly"
194 }
195 },
196 {
197 "type": {
198 "id": "HP:0001250",
199 "label": "Seizures"
200 }
201 },
202 {
203 "type": {
204 "id": "HP:0001270",
205 "label": "Motor delay"
206 }
207 },
208 {
209 "type": {
210 "id": "HP:0002013",
211 "label": "Vomiting"
212 }
213 },
214 {
215 "type": {
216 "id": "HP:0002240",
217 "label": "Hepatomegaly"
218 }
219 },
220 {
221 "type": {
222 "id": "HP:0002333",
223 "label": "Motor deterioration"
224 }
225 },
226 {
227 "type": {
228 "id": "HP:0002376",
229 "label": "Developmental regression"
230 }
231 },
232 {
233 "type": {
234 "id": "HP:0002490",
235 "label": "Increased CSF lactate"
236 }
237 },
238 {
239 "type": {
240 "id": "HP:0002922",
241 "label": "Increased CSF protein"
242 }
243 },
244 {
245 "type": {
246 "id": "HP:0003128",
247 "label": "Lactic acidosis"
248 }
249 },
250 {
251 "type": {
252 "id": "HP:0003390",
253 "label": "Sensory axonal neuropathy"
254 }
255 },
256 {
257 "type": {
258 "id": "HP:0003739",
259 "label": "Myoclonic spasms"
260 }
261 },
262 {
263 "type": {
264 "id": "HP:0004325",
265 "label": "Decreased body weight"
266 }
267 },
268 {
269 "type": {
270 "id": "HP:0006887",
271 "label": "Intellectual disability, progressive"
272 }
273 },
274 {
275 "type": {
276 "id": "HP:0007002",
277 "label": "Motor axonal neuropathy"
278 }
279 },
280 {
281 "type": {
282 "id": "HP:0012758",
283 "label": "Neurodevelopmental delay"
284 }
285 },
286 {
287 "type": {
288 "id": "HP:0100543",
289 "label": "Cognitive impairment"
290 }
291 },
292 {
293 "type": {
294 "id": "HP:0200134",
295 "label": "Epileptic encephalopathy"
296 }
297 }
298 ],
299 "diseases": [],
300 "genes": [
301 {
302 "id": "HGNC:",
303 "symbol": "OPA1"
304 }
305 ],
306 "variants": [],
307 "meta_data": {
308 "created": "2021-04-21T09:42:24.702Z",
309 "resources": [
310 {
311 "id": "hp",
312 "name": "Human Phenotype Ontology",
313 "url": "http://purl.obolibrary.org/obo/hp.owl",
314 "version": "2020-12-07",
315 "namespacePrefix": "HP",
316 "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
317 },
318 {
319 "id": "orphanet",
320 "name": "Orphanet Rare Disease Ontology",
321 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl",
322 "version": "3.1",
323 "namespacePrefix": "Orphanet",
324 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_"
325 },
326 {
327 "id": "hgnc",
328 "name": "HUGO Gene Nomenclature Committee",
329 "url": "https://www.genenames.org",
330 "version": "2021-01-13",
331 "namespacePrefix": "HGNC",
332 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
333 },
334 {
335 "id": "mim",
336 "name": "Online Mendelian Inheritance in Man",
337 "url": "https://omim.org/",
338 "version": "2021-01-21",
339 "namespacePrefix": "OMIM",
340 "iriPrefix": "https://omim.org/entry/"
341 }
342 ]
343 }
344 },
345 "diagnosis": [],
346 "meta_data": {}
347 }
348 }