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Copy file name to clipboardExpand all lines: app/data.js
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@@ -17357,6 +17357,87 @@ window.searchData = [
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"causal_graph_edges": "1",
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"causal_graph_longest_path": "1"
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},
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{
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"name": "Peutz-Jeghers polyp",
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"disease_id": "MONDO:0006365",
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"category": "Genetic",
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"parents": [
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"Hamartomatous polyp",
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"Hereditary cancer syndrome"
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],
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"subtypes": [],
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"description": "Germline loss-of-function variants in STK11 (LKB1) disrupt tumor suppressor signaling and drive hamartomatous polyp formation throughout the GI tract.\n",
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"pathophysiology": [
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"STK11 loss-of-function signaling disruption",
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"mTORC1 pathway hyperactivation",
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"Arborizing smooth muscle core formation"
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],
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"cell_types": [
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"intestinal smooth muscle cell",
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"enterocyte",
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"smooth muscle cell"
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],
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"cell_type_ids": [
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"CL:0002504",
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"CL:0000584",
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"CL:0000192"
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],
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"biological_processes": [
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"signal transduction",
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"cell proliferation",
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"mTORC1 signaling",
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"smooth muscle cell differentiation",
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"tissue morphogenesis"
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],
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"phenotypes": [
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"Small intestinal polyposis",
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"Gastrointestinal hemorrhage",
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"Abdominal pain",
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"Abnormal pigmentation of oral mucosa",
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"Abnormal lip pigmentation",
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"Increased cancer risk"
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],
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"phenotype_categories": [
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"Gastrointestinal",
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"Dermatologic",
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"Systemic"
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],
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"phenotype_ids": [
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"HP:0030256",
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"HP:0002239",
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"HP:0002027",
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"HP:0100669",
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"HP:0032453",
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"HP:0002664"
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],
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"frequencies": [
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"VERY_FREQUENT",
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"FREQUENT"
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],
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"genes": [
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"STK11 (Serine/threonine kinase 11, also called LKB1)",
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