Mercurial > repos > iuc > beacon2_csv2xlsx

comparison test-data/EGAF00005572727.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": "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",
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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 }