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pnrobinsonpnrobinson
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SON update
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‎notebooks/SON/SON_ZTTKS_individuals.json‎

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‎notebooks/SON/phenopackets/PMID_34521999_Individual_1.json‎

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‎notebooks/SON/phenopackets/PMID_34521999_Individual_10.json‎

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‎notebooks/SON/phenopackets/PMID_34521999_Individual_11.json‎

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‎notebooks/SON/phenopackets/PMID_34521999_Individual_12.json‎

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‎notebooks/SON/phenopackets/PMID_34521999_Individual_13.json‎

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Original file line numberDiff line numberDiff line change
@@ -12,27 +12,50 @@
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"phenotypicFeatures": [
1313
{
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"type": {
15-
"id": "HP:0002761",
16-
"label": "Generalized joint hypermobility"
17-
}
15+
"id": "HP:0000490",
16+
"label": "Deeply set eye"
17+
},
18+
"excluded": true
1819
},
1920
{
2021
"type": {
21-
"id": "HP:0000303",
22-
"label": "Mandibular prognathia"
23-
}
22+
"id": "HP:0000520",
23+
"label": "Proptosis"
24+
},
25+
"excluded": true
2426
},
2527
{
2628
"type": {
27-
"id": "HP:0001167",
28-
"label": "Abnormal finger morphology"
29+
"id": "HP:0000316",
30+
"label": "Hypertelorism"
2931
},
3032
"excluded": true
3133
},
3234
{
3335
"type": {
34-
"id": "HP:0001252",
35-
"label": "Hypotonia"
36+
"id": "HP:0000486",
37+
"label": "Strabismus"
38+
},
39+
"excluded": true
40+
},
41+
{
42+
"type": {
43+
"id": "HP:0000505",
44+
"label": "Visual impairment"
45+
},
46+
"excluded": true
47+
},
48+
{
49+
"type": {
50+
"id": "HP:0000508",
51+
"label": "Ptosis"
52+
},
53+
"excluded": true
54+
},
55+
{
56+
"type": {
57+
"id": "HP:0000303",
58+
"label": "Mandibular prognathia"
3659
}
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},
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{
@@ -63,13 +86,6 @@
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},
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"excluded": true
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},
66-
{
67-
"type": {
68-
"id": "HP:0000625",
69-
"label": "Eyelid coloboma"
70-
},
71-
"excluded": true
72-
},
7389
{
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"type": {
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"id": "HP:0000494",
@@ -92,8 +108,8 @@
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},
93109
{
94110
"type": {
95-
"id": "HP:0011228",
96-
"label": "Horizontal eyebrow"
111+
"id": "HP:0000625",
112+
"label": "Eyelid coloboma"
97113
},
98114
"excluded": true
99115
},
@@ -106,102 +122,82 @@
106122
},
107123
{
108124
"type": {
109-
"id": "HP:0005338",
110-
"label": "Sparse lateral eyebrow"
125+
"id": "HP:0011228",
126+
"label": "Horizontal eyebrow"
111127
},
112128
"excluded": true
113129
},
114130
{
115131
"type": {
116-
"id": "HP:0000422",
117-
"label": "Abnormal nasal bridge morphology"
132+
"id": "HP:0005338",
133+
"label": "Sparse lateral eyebrow"
118134
},
119135
"excluded": true
120136
},
121137
{
122138
"type": {
123-
"id": "HP:0002015",
124-
"label": "Dysphagia"
139+
"id": "HP:0000422",
140+
"label": "Abnormal nasal bridge morphology"
125141
},
126142
"excluded": true
127143
},
128144
{
129145
"type": {
130-
"id": "HP:0011968",
131-
"label": "Feeding difficulties"
146+
"id": "HP:0000358",
147+
"label": "Posteriorly rotated ears"
132148
}
133149
},
134150
{
135151
"type": {
136-
"id": "HP:0000316",
137-
"label": "Hypertelorism"
138-
},
139-
"excluded": true
140-
},
141-
{
142-
"type": {
143-
"id": "HP:0000490",
144-
"label": "Deeply set eye"
152+
"id": "HP:0000369",
153+
"label": "Low-set ears"
145154
},
146155
"excluded": true
147156
},
148157
{
149158
"type": {
150-
"id": "HP:0000520",
151-
"label": "Proptosis"
152-
},
153-
"excluded": true
159+
"id": "HP:0000364",
160+
"label": "Hearing abnormality"
161+
}
154162
},
155163
{
156164
"type": {
157-
"id": "HP:0000486",
158-
"label": "Strabismus"
165+
"id": "HP:0001250",
166+
"label": "Seizure"
159167
},
160168
"excluded": true
161169
},
162170
{
163171
"type": {
164-
"id": "HP:0000505",
165-
"label": "Visual impairment"
172+
"id": "HP:0002353",
173+
"label": "EEG abnormality"
166174
},
167175
"excluded": true
168176
},
169177
{
170178
"type": {
171-
"id": "HP:0000508",
172-
"label": "Ptosis"
179+
"id": "HP:0002015",
180+
"label": "Dysphagia"
173181
},
174182
"excluded": true
175183
},
176184
{
177185
"type": {
178-
"id": "HP:0000358",
179-
"label": "Posteriorly rotated ears"
186+
"id": "HP:0000708",
187+
"label": "Atypical behavior"
180188
}
181189
},
182190
{
183191
"type": {
184-
"id": "HP:0000369",
185-
"label": "Low-set ears"
192+
"id": "HP:0000729",
193+
"label": "Autistic behavior"
186194
},
187195
"excluded": true
188196
},
189197
{
190198
"type": {
191-
"id": "HP:0000364",
192-
"label": "Hearing abnormality"
193-
}
194-
},
195-
{
196-
"type": {
197-
"id": "HP:0000750",
198-
"label": "Delayed speech and language development"
199-
}
200-
},
201-
{
202-
"type": {
203-
"id": "HP:0001270",
204-
"label": "Motor delay"
199+
"id": "HP:0002360",
200+
"label": "Sleep disturbance"
205201
}
206202
},
207203
{
@@ -226,68 +222,72 @@
226222
},
227223
{
228224
"type": {
229-
"id": "HP:0000708",
230-
"label": "Atypical behavior"
225+
"id": "HP:0000750",
226+
"label": "Delayed speech and language development"
231227
}
232228
},
233229
{
234230
"type": {
235-
"id": "HP:0000729",
236-
"label": "Autistic behavior"
237-
},
238-
"excluded": true
231+
"id": "HP:0001270",
232+
"label": "Motor delay"
233+
}
239234
},
240235
{
241236
"type": {
242-
"id": "HP:0002360",
243-
"label": "Sleep disturbance"
244-
}
237+
"id": "HP:0001197",
238+
"label": "Abnormality of prenatal development or birth"
239+
},
240+
"excluded": true
245241
},
246242
{
247243
"type": {
248-
"id": "HP:0001250",
249-
"label": "Seizure"
244+
"id": "HP:0004324",
245+
"label": "Increased body weight"
250246
},
251247
"excluded": true
252248
},
253249
{
254250
"type": {
255-
"id": "HP:0002353",
256-
"label": "EEG abnormality"
251+
"id": "HP:0004325",
252+
"label": "Decreased body weight"
257253
},
258254
"excluded": true
259255
},
260256
{
261257
"type": {
262-
"id": "HP:0001763",
263-
"label": "Pes planus"
258+
"id": "HP:0011968",
259+
"label": "Feeding difficulties"
264260
}
265261
},
266262
{
267263
"type": {
268-
"id": "HP:0001197",
269-
"label": "Abnormality of prenatal development or birth"
264+
"id": "HP:0001167",
265+
"label": "Abnormal finger morphology"
270266
},
271267
"excluded": true
272268
},
273269
{
274270
"type": {
275-
"id": "HP:0004324",
276-
"label": "Increased body weight"
277-
},
278-
"excluded": true
271+
"id": "HP:0001252",
272+
"label": "Hypotonia"
273+
}
279274
},
280275
{
281276
"type": {
282-
"id": "HP:0004325",
283-
"label": "Decreased body weight"
284-
},
285-
"excluded": true
277+
"id": "HP:0002761",
278+
"label": "Generalized joint hypermobility"
279+
}
280+
},
281+
{
282+
"type": {
283+
"id": "HP:0001763",
284+
"label": "Pes planus"
285+
}
286286
}
287287
],
288288
"interpretations": [
289289
{
290-
"id": "sM9c86AlTAbpBUKTrvaA6vux",
290+
"id": "LE62FoxAZHgHGH0V1pd4VMR4",
291291
"progressStatus": "SOLVED",
292292
"diagnosis": {
293293
"disease": {
@@ -349,7 +349,7 @@
349349
}
350350
],
351351
"metaData": {
352-
"created": "2025-11-29T08:04:09.091729Z",
352+
"created": "2025-12-07T18:00:44.758811Z",
353353
"createdBy": "0000-0002-0736-9199",
354354
"resources": [
355355
{

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