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| Original file line number | Diff line number | Diff line change |
|---|---|---|
| @@ -0,0 +1,165 @@ | ||
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| "id": "fam1" | ||
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| { | ||
| "type": { | ||
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| "label": "Focal-onset seizure" | ||
| } | ||
| }, | ||
| { | ||
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| "label": "Bilateral tonic-clonic seizure" | ||
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| { | ||
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| "label": "Neonatal onset" | ||
| } | ||
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| { | ||
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| "label": "Seizures, benign familial infantile, 3" | ||
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| Original file line number | Diff line number | Diff line change |
|---|---|---|
| @@ -0,0 +1,192 @@ | ||
| { | ||
| "id": "PMID_33731876_fam10", | ||
| "subject": { | ||
| "id": "fam10" | ||
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| "phenotypicFeatures": [ | ||
| { | ||
| "type": { | ||
| "id": "HP:0010851", | ||
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| }, | ||
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| "type": { | ||
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| "label": "Epileptic encephalopathy" | ||
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| }, | ||
| { | ||
| "type": { | ||
| "id": "HP:0011154", | ||
| "label": "Focal autonomic seizure" | ||
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| }, | ||
| { | ||
| "type": { | ||
| "id": "HP:0002123", | ||
| "label": "Generalized myoclonic seizure" | ||
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| { | ||
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| }, | ||
| { | ||
| "type": { | ||
| "id": "HP:0010864", | ||
| "label": "Intellectual disability, severe" | ||
| } | ||
| }, | ||
| { | ||
| "type": { | ||
| "id": "HP:0000252", | ||
| "label": "Microcephaly" | ||
| } | ||
| }, | ||
| { | ||
| "type": { | ||
| "id": "HP:0010841", | ||
| "label": "Multifocal epileptiform discharges" | ||
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| }, | ||
| { | ||
| "type": { | ||
| "id": "HP:0001252", | ||
| "label": "Hypotonia" | ||
| } | ||
| }, | ||
| { | ||
| "type": { | ||
| "id": "HP:0031375", | ||
| "label": "Refractory" | ||
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| }, | ||
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| "label": "Neonatal onset" | ||
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| "label": "Autism" | ||
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| { | ||
| "id": "fam10", | ||
| "progressStatus": "SOLVED", | ||
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| "disease": { | ||
| "id": "OMIM:613721", | ||
| "label": "Developmental and epileptic encephalopathy 11" | ||
| }, | ||
| "genomicInterpretations": [ | ||
| { | ||
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| "id": "var_euNgehoNTnxjBhzVgtTNLIJnQ", | ||
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