Mercurial > repos > iuc > beacon2_csv2xlsx

comparison test-data/EGAF00005572753.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": "P0007503",
4 "subject": {
5 "id": "P0007503",
6 "dateOfBirth": "unknown-01-01T00:00:00Z",
7 "sex": "FEMALE"
8 },
9 "phenotypicFeatures": [
10 {
11 "type": {
12 "id": "HP:0000529",
13 "label": "Progressive visual loss"
14 }
15 },
16 {
17 "type": {
18 "id": "HP:0000575",
19 "label": "Scotoma"
20 }
21 },
22 {
23 "type": {
24 "id": "HP:0007703",
25 "label": "Abnormality of retinal pigmentation"
26 }
27 },
28 {
29 "type": {
30 "id": "HP:0008002",
31 "label": "Abnormality of macular pigmentation"
32 }
33 },
34 {
35 "type": {
36 "id": "HP:0012508",
37 "label": "Metamorphopsia"
38 }
39 }
40 ],
41 "diseases": [],
42 "genes": [],
43 "variants": [],
44 "meta_data": {
45 "created": "2021-04-21T09:39:45.571Z",
46 "resources": [
47 {
48 "id": "hp",
49 "name": "Human Phenotype Ontology",
50 "url": "http://purl.obolibrary.org/obo/hp.owl",
51 "version": "2020-12-07",
52 "namespacePrefix": "HP",
53 "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
54 },
55 {
56 "id": "orphanet",
57 "name": "Orphanet Rare Disease Ontology",
58 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl",
59 "version": "3.1",
60 "namespacePrefix": "Orphanet",
61 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_"
62 },
63 {
64 "id": "hgnc",
65 "name": "HUGO Gene Nomenclature Committee",
66 "url": "https://www.genenames.org",
67 "version": "2021-01-13",
68 "namespacePrefix": "HGNC",
69 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
70 },
71 {
72 "id": "mim",
73 "name": "Online Mendelian Inheritance in Man",
74 "url": "https://omim.org/",
75 "version": "2021-01-21",
76 "namespacePrefix": "OMIM",
77 "iriPrefix": "https://omim.org/entry/"
78 }
79 ]
80 }
81 },
82 "interpretation": {
83 "id": "P0007503",
84 "resolutionStatus": "UNSOLVED",
85 "phenopacket": {
86 "id": "P0007503",
87 "subject": {
88 "id": "P0007503",
89 "dateOfBirth": "unknown-01-01T00:00:00Z",
90 "sex": "FEMALE"
91 },
92 "phenotypicFeatures": [
93 {
94 "type": {
95 "id": "HP:0000529",
96 "label": "Progressive visual loss"
97 }
98 },
99 {
100 "type": {
101 "id": "HP:0000575",
102 "label": "Scotoma"
103 }
104 },
105 {
106 "type": {
107 "id": "HP:0007703",
108 "label": "Abnormality of retinal pigmentation"
109 }
110 },
111 {
112 "type": {
113 "id": "HP:0008002",
114 "label": "Abnormality of macular pigmentation"
115 }
116 },
117 {
118 "type": {
119 "id": "HP:0012508",
120 "label": "Metamorphopsia"
121 }
122 }
123 ],
124 "diseases": [],
125 "genes": [],
126 "variants": [],
127 "meta_data": {
128 "created": "2021-04-21T09:39:45.571Z",
129 "resources": [
130 {
131 "id": "hp",
132 "name": "Human Phenotype Ontology",
133 "url": "http://purl.obolibrary.org/obo/hp.owl",
134 "version": "2020-12-07",
135 "namespacePrefix": "HP",
136 "iriPrefix": "http://purl.obolibrary.org/obo/HP_"
137 },
138 {
139 "id": "orphanet",
140 "name": "Orphanet Rare Disease Ontology",
141 "url": "http://orpha.net/ontology/ORDO_en_3.1.owl",
142 "version": "3.1",
143 "namespacePrefix": "Orphanet",
144 "iriPrefix": "http://www.orpha.net/ORDO/Orphanet_"
145 },
146 {
147 "id": "hgnc",
148 "name": "HUGO Gene Nomenclature Committee",
149 "url": "https://www.genenames.org",
150 "version": "2021-01-13",
151 "namespacePrefix": "HGNC",
152 "iriPrefix": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/"
153 },
154 {
155 "id": "mim",
156 "name": "Online Mendelian Inheritance in Man",
157 "url": "https://omim.org/",
158 "version": "2021-01-21",
159 "namespacePrefix": "OMIM",
160 "iriPrefix": "https://omim.org/entry/"
161 }
162 ]
163 }
164 },
165 "diagnosis": [],
166 "meta_data": {}
167 }
168 }