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pnrobinsonpnrobinson
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SMARCB1 update
1 parent 988141c commit 9965469

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‎notebooks/SMARCB1/SMARCB1_CSS3_individuals.json‎

Lines changed: 4086 additions & 1282 deletions
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‎notebooks/SMARCB1/phenopackets/PMID_22726846_Individual_KS47.json‎

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@@ -10,19 +10,19 @@
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"sex": "FEMALE"
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},
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"phenotypicFeatures": [
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{
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"type": {
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"id": "HP:0002664",
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"label": "Neoplasm"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0000505",
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"label": "Visual impairment"
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}
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},
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{
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"type": {
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"id": "HP:0000508",
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"label": "Ptosis"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0011003",
@@ -31,97 +31,103 @@
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},
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{
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"type": {
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"id": "HP:0000508",
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"label": "Ptosis"
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"id": "HP:0000252",
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"label": "Microcephaly"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0000998",
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"label": "Hypertrichosis"
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"id": "HP:0000248",
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"label": "Brachycephaly"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0000574",
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"label": "Thick eyebrow"
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"id": "HP:0010808",
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"label": "Protruding tongue"
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}
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},
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{
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"type": {
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"id": "HP:0000289",
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"label": "Broad philtrum"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0000527",
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"label": "Long eyelashes"
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"id": "HP:0000322",
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"label": "Short philtrum"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0000343",
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"label": "Long philtrum"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0001249",
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"label": "Intellectual disability"
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}
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"id": "HP:0000215",
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"label": "Thick upper lip vermilion"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0000463",
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"label": "Anteverted nares"
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"id": "HP:0000219",
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"label": "Thin upper lip vermilion"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0002209",
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"label": "Sparse scalp hair"
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"id": "HP:0000179",
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"label": "Thick lower lip vermilion"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0000252",
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"label": "Microcephaly"
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"id": "HP:0000175",
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"label": "Cleft palate"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0000248",
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"label": "Brachycephaly"
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"id": "HP:0000154",
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"label": "Wide mouth"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0000238",
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"label": "Hydrocephalus"
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"id": "HP:0011800",
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"label": "Midface retrusion"
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}
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},
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{
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"type": {
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"id": "HP:0000280",
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"label": "Coarse facial features"
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"id": "HP:0000527",
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"label": "Long eyelashes"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0005280",
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"label": "Depressed nasal bridge"
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},
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"excluded": true
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"id": "HP:0000582",
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"label": "Upslanted palpebral fissure"
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}
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},
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{
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"type": {
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"id": "HP:0000446",
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"label": "Narrow nasal bridge"
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"id": "HP:0000574",
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"label": "Thick eyebrow"
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},
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"excluded": true
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},
@@ -134,143 +140,137 @@
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},
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{
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"type": {
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"id": "HP:0000343",
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"label": "Long philtrum"
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"id": "HP:0000446",
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"label": "Narrow nasal bridge"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0000289",
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"label": "Broad philtrum"
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"id": "HP:0005280",
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"label": "Depressed nasal bridge"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0000322",
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"label": "Short philtrum"
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"id": "HP:0000445",
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"label": "Wide nose"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0000582",
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"label": "Upslanted palpebral fissure"
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}
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},
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{
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"type": {
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"id": "HP:0000219",
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"label": "Thin upper lip vermilion"
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"id": "HP:0000463",
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"label": "Anteverted nares"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0000215",
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"label": "Thick upper lip vermilion"
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"id": "HP:0000280",
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"label": "Coarse facial features"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0000179",
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"label": "Thick lower lip vermilion"
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"id": "HP:0002209",
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"label": "Sparse scalp hair"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0011800",
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"label": "Midface retrusion"
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"id": "HP:0001249",
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"label": "Intellectual disability"
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}
188188
},
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{
190190
"type": {
191-
"id": "HP:0010808",
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"label": "Protruding tongue"
191+
"id": "HP:0001263",
192+
"label": "Global developmental delay"
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}
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},
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{
196196
"type": {
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"id": "HP:0000175",
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"label": "Cleft palate"
199-
},
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"excluded": true
197+
"id": "HP:0000238",
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"label": "Hydrocephalus"
199+
}
201200
},
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{
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"type": {
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"id": "HP:0001263",
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"label": "Global developmental delay"
203+
"id": "HP:0012422",
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"label": "Villous hypertrophy of choroid plexus"
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}
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},
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{
209208
"type": {
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"id": "HP:0000154",
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"label": "Wide mouth"
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"id": "HP:0000998",
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"label": "Hypertrichosis"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0012422",
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"label": "Villous hypertrophy of choroid plexus"
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}
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"id": "HP:0004942",
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"label": "Aortic aneurysm"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0001647",
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"label": "Bicuspid aortic valve"
223+
"id": "HP:0001643",
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"label": "Patent ductus arteriosus"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0001631",
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"label": "Atrial septal defect"
230+
"id": "HP:0001642",
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"label": "Pulmonic stenosis"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0001629",
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"label": "Ventricular septal defect"
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"id": "HP:0001651",
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"label": "Dextrocardia"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0001651",
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"label": "Dextrocardia"
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"id": "HP:0001629",
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"label": "Ventricular septal defect"
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},
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"excluded": true
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},
249249
{
250250
"type": {
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"id": "HP:0001642",
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"label": "Pulmonic stenosis"
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"id": "HP:0001647",
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"label": "Bicuspid aortic valve"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0001643",
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"label": "Patent ductus arteriosus"
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"id": "HP:0001631",
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"label": "Atrial septal defect"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0004942",
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"label": "Aortic aneurysm"
265+
"id": "HP:0002664",
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"label": "Neoplasm"
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},
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"excluded": true
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}
270270
],
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"interpretations": [
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{
273-
"id": "I8XoOiQCroQLiVJWIljkgymY",
273+
"id": "Mxtns4AaJYTrA8OQhh1F00Pa",
274274
"progressStatus": "SOLVED",
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"diagnosis": {
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"disease": {
@@ -338,7 +338,7 @@
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}
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],
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"metaData": {
341-
"created": "2025-11-30T07:13:21.946660Z",
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"created": "2025-12-07T19:10:41.524641Z",
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"createdBy": "0000-0002-0736-9199",
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"resources": [
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{

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