Mercurial > repos > nathandunn > biolinkmonarchinitiative
changeset 4:49b46f044d48 draft
planemo upload commit 0dbcda86caba8f8fead7cb6fde0ae3e73d398f1e
| author | nathandunn |
|---|---|
| date | Mon, 04 Dec 2017 19:35:12 -0500 |
| parents | d40860663861 |
| children | 6eaaeedf2f37 |
| files | README.md bioentityset-overrepresentation.xml images/ScreenShot2.png macros.xml run_server.sh run_tests.sh test-data/bioentityset-overrepresentation.json test-data/bioentityset-overrepresentation.tsv test-data/participatant_in-for-substance.json test-data/roles-for-substance.json tools.txt upload_tool.sh |
| diffstat | 11 files changed, 266 insertions(+), 8 deletions(-) [+] |
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--- a/README.md Sat Dec 02 16:41:34 2017 -0500 +++ b/README.md Mon Dec 04 19:35:12 2017 -0500 @@ -14,6 +14,9 @@ - + +Upload new tool. + + planemo shed_upload --shed_target toolshed \ No newline at end of file
--- a/bioentityset-overrepresentation.xml Sat Dec 02 16:41:34 2017 -0500 +++ b/bioentityset-overrepresentation.xml Mon Dec 04 19:35:12 2017 -0500 @@ -21,7 +21,15 @@ #set $background_string += '&background='+str($word) #end for -curl --silent -X GET --header 'Accept: application/json' 'https://api-dev.monarchinitiative.org/api/bioentityset/overrepresentation/?object_category=$object_category$subject_string&background=$background_string&ontology=$ontology&subject_category=$subject_category&taxon=$taxon&object_category=$object_category&max_p_value=$max_p_value' > $output +curl --silent -X GET --header 'Accept: application/json' 'https://api-dev.monarchinitiative.org/api/bioentityset/overrepresentation/?object_category=$object_category$subject_string&background=$background_string&ontology=$ontology&subject_category=$subject_category&taxon=$taxon&object_category=$object_category&max_p_value=$max_p_value' > $output_json + +&& + +echo -e "p\tn\tp_uncorrected\tc" > $output_tsv + +&& + +cat $output_json | jq -r '.results[] | flatten | @tsv ' >> $output_tsv ]]></command> <inputs> <param name="object_category" type="text" format="txt" multiple="false" label="CATEGORY of entity at link OBJECT (target), e.g. function, phenotype, disease" /> @@ -34,9 +42,19 @@ <param name="object_category" type="text" format="txt" multiple="false" label="E.g. phenotype, function" value="phenotype" /> <param name="max_p_value" type="text" format="txt" multiple="false" value="0.05" label="Exclude results with p-value greater than this"/> </inputs> - <expand macro="outputs" /> + <outputs> + <data name="output_json" format="json"/> + <data + name="output_tsv" + format="tsv" + header_row="1" + > + </data> + </outputs> <tests> - <!--emulate: https://api-dev.monarchinitiative.org/api/bioentityset/overrepresentation/ + <!-- + + emulate: https://api-dev.monarchinitiative.org/api/bioentityset/overrepresentation/ ?object_category=phenotype subject=NCBIGene%3A6295 subject=NCBIGene%3A1258 @@ -61,7 +79,8 @@ <param name="taxon" value="NCBITaxon:9606"/> <param name="object_category" value="phenotype"/> <param name="max_p_value" value="0.05"/> - <output name="output" file="bioentityset-overrepresentation.json"/> + <output name="output_json" file="bioentityset-overrepresentation.json"/> + <output name="output_tsv" file="bioentityset-overrepresentation.tsv"/> </test> </tests> <expand macro="citations" />
--- a/macros.xml Sat Dec 02 16:41:34 2017 -0500 +++ b/macros.xml Mon Dec 04 19:35:12 2017 -0500 @@ -1,6 +1,7 @@ <macros> <xml name="frontmatter"> <requirements> + <requirement type="package" version="1.5">jq</requirement> </requirements> <stdio> <exit_code range="1:"/>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/run_server.sh Mon Dec 04 19:35:12 2017 -0500 @@ -0,0 +1,5 @@ +#!/bin/bash + +planemo s `cat tools.txt` + +
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/run_tests.sh Mon Dec 04 19:35:12 2017 -0500 @@ -0,0 +1,5 @@ +#!/bin/bash + +planemo t `cat tools.txt` + +
--- a/test-data/bioentityset-overrepresentation.json Sat Dec 02 16:41:34 2017 -0500 +++ b/test-data/bioentityset-overrepresentation.json Mon Dec 04 19:35:12 2017 -0500 @@ -1,1 +1,1 @@ -{"results": [{"p": 6.830958069760975e-17, "p_uncorrected": 2.2250677751664415e-19, "n": "Peripheral retinal degeneration", "c": "HP:0007769"}, {"p": 6.830958069760975e-17, "p_uncorrected": 2.2250677751664415e-19, "n": "Hypoplasia of the retina", "c": "HP:0007770"}, {"p": 7.89829526810427e-17, "p_uncorrected": 2.572734615017678e-19, "n": "Subretinal exudate", "c": "HP:0011532"}, {"p": 7.89829526810427e-17, "p_uncorrected": 2.572734615017678e-19, "n": "Progressive night blindness", "c": "HP:0007675"}, {"p": 7.89829526810427e-17, "p_uncorrected": 2.572734615017678e-19, "n": "Retinal hole", "c": "HP:0011530"}, {"p": 7.89829526810427e-17, "p_uncorrected": 2.572734615017678e-19, "n": "Progressive cone degeneration", "c": "HP:0008020"}, {"p": 1.0494238468181382e-16, "p_uncorrected": 3.418318719277323e-19, "n": "Progressive retinal degeneration", "c": "HP:0007893"}, {"p": 1.206054271707303e-16, "p_uncorrected": 3.928515543020531e-19, "n": "Age-related macular degeneration", "c": "HP:0007868"}, {"p": 1.206054271707303e-16, "p_uncorrected": 3.928515543020531e-19, "n": "Abnormal dark-adapted bright flash electroretinogram", "c": "HP:0030470"}, {"p": 1.206054271707303e-16, "p_uncorrected": 3.928515543020531e-19, "n": "Exudative retinopathy", "c": "HP:0007898"}, {"p": 1.206054271707303e-16, "p_uncorrected": 3.928515543020531e-19, "n": "Severe hearing impairment", "c": "HP:0012714"}, {"p": 1.206054271707303e-16, "p_uncorrected": 3.928515543020531e-19, "n": "Severe sensorineural hearing impairment", "c": "HP:0008625"}, {"p": 1.206054271707303e-16, "p_uncorrected": 3.928515543020531e-19, "n": "Abnormal amplitude of dark-adapted bright flash electroretinogram", "c": "HP:0030478"}, {"p": 1.206054271707303e-16, "p_uncorrected": 3.928515543020531e-19, "n": "Abnormal dark-adapted electroretinogram", "c": "HP:0030469"}, {"p": 1.206054271707303e-16, "p_uncorrected": 3.928515543020531e-19, "n": "Electronegative electroretinogram", "c": "HP:0007984"}, {"p": 1.5839101496752315e-16, "p_uncorrected": 5.159316448453523e-19, "n": "Abetalipoproteinemia", "c": "HP:0008181"}, {"p": 2.0651383842794574e-16, "p_uncorrected": 6.726835127946115e-19, "n": "Mottled pigmentation", "c": "HP:0001070"}, {"p": 2.0651383842794574e-16, "p_uncorrected": 6.726835127946115e-19, "n": "Tapetoretinal degeneration", "c": "HP:0000547"}, {"p": 2.0651383842794574e-16, "p_uncorrected": 6.726835127946115e-19, "n": "Decreased light- and dark-adapted electroretinogram amplitude", "c": "HP:0000654"}, {"p": 3.0355215014437025e-16, "p_uncorrected": 9.887692187113037e-19, "n": "Vitreoretinal degeneration", "c": "HP:0000655"}, {"p": 3.440257701614546e-16, "p_uncorrected": 1.1206051145324254e-18, "n": "Abnormal light- and dark-adapted electroretinogram", "c": "HP:0008323"}, {"p": 4.398497628785198e-16, "p_uncorrected": 1.4327353839691198e-18, "n": "Chorioretinal atrophy", "c": "HP:0000533"}, {"p": 5.5905604395766495e-16, "p_uncorrected": 1.8210294591454885e-18, "n": "Chorioretinal degeneration", "c": "HP:0200065"}, {"p": 5.5905604395766495e-16, "p_uncorrected": 1.8210294591454885e-18, "n": "Pigmentary retinal degeneration", "c": "HP:0001146"}, {"p": 6.289380494506863e-16, "p_uncorrected": 2.0486581415331802e-18, "n": "Abnormal full-field electroretinogram", "c": "HP:0030466"}, {"p": 6.289380494506863e-16, "p_uncorrected": 2.0486581415331802e-18, "n": "Decreased circulating low-density lipoprotein levels", "c": "HP:0003563"}, {"p": 8.882660716055608e-16, "p_uncorrected": 2.893374826076745e-18, "n": "Macular dystrophy", "c": "HP:0007754"}, {"p": 1.382679693118587e-15, "p_uncorrected": 4.503842648594746e-18, "n": "Hypopigmentation of the fundus", "c": "HP:0007894"}, {"p": 1.9031265438999284e-15, "p_uncorrected": 6.1991092635176825e-18, "n": "Undetectable electroretinogram", "c": "HP:0000550"}, {"p": 2.1122613289451027e-15, "p_uncorrected": 6.880330061710433e-18, "n": "Cystoid macular edema", "c": "HP:0011505"}, {"p": 2.3418549516569064e-15, "p_uncorrected": 7.628192024941062e-18, "n": "Macular edema", "c": "HP:0040049"}, {"p": 2.593667312051605e-15, "p_uncorrected": 8.44842772655246e-18, "n": "Hypolipoproteinemia", "c": "HP:0010981"}, {"p": 2.593667312051605e-15, "p_uncorrected": 8.44842772655246e-18, "n": "Retinal exudate", "c": "HP:0001147"}, {"p": 2.593667312051605e-15, "p_uncorrected": 8.44842772655246e-18, "n": "Acanthocytosis", "c": "HP:0001927"}, {"p": 2.8695893665276034e-15, "p_uncorrected": 9.347196633640402e-18, "n": "Macular thickening", "c": "HP:0030498"}, {"p": 3.1716514051110723e-15, "p_uncorrected": 1.0331112068765708e-17, "n": "Aplasia/Hypoplasia of the retina", "c": "HP:0008061"}, {"p": 3.50203175980966e-15, "p_uncorrected": 1.1407269575927232e-17, "n": "Progressive sensorineural hearing impairment", "c": "HP:0000408"}, {"p": 3.50203175980966e-15, "p_uncorrected": 1.1407269575927232e-17, "n": "Congenital blindness", "c": "HP:0007875"}, {"p": 4.25725636613049e-15, "p_uncorrected": 1.3867284580229608e-17, "n": "Keratoconus", "c": "HP:0000563"}, {"p": 4.25725636613049e-15, "p_uncorrected": 1.3867284580229608e-17, "n": "Increased corneal curvature", "c": "HP:0100692"}, {"p": 4.6872822616738014e-15, "p_uncorrected": 1.52680203963316e-17, "n": "Decreased corneal thickness", "c": "HP:0100689"}, {"p": 5.6665065757932175e-15, "p_uncorrected": 1.8457676142648916e-17, "n": "Congenital sensorineural hearing impairment", "c": "HP:0008527"}, {"p": 6.22204643614839e-15, "p_uncorrected": 2.0267252235011042e-17, "n": "Abnormality of corneal thickness", "c": "HP:0011486"}, {"p": 6.22204643614839e-15, "p_uncorrected": 2.0267252235011042e-17, "n": "Constriction of peripheral visual field", "c": "HP:0001133"}, {"p": 6.826128614391264e-15, "p_uncorrected": 2.2234946626681643e-17, "n": "Retinal perforation", "c": "HP:0011958"}, {"p": 9.806380222363747e-15, "p_uncorrected": 3.194260658750406e-17, "n": "Yellow/white lesions of the retina", "c": "HP:0030506"}, {"p": 1.0714378391101258e-14, "p_uncorrected": 3.49002553456067e-17, "n": "Abnormality of the level of lipoprotein cholesterol", "c": "HP:0010979"}, {"p": 1.1697348885694248e-14, "p_uncorrected": 3.810211363418322e-17, "n": "Macular degeneration", "c": "HP:0000608"}, {"p": 1.2760744238882322e-14, "p_uncorrected": 4.156594214619649e-17, "n": "Hyperinsulinemia", "c": "HP:0000842"}, {"p": 1.3910360837022003e-14, "p_uncorrected": 4.531062161896418e-17, "n": "Cone/cone-rod dystrophy", "c": "HP:0000548"}, {"p": 1.5152357340328436e-14, "p_uncorrected": 4.9356212834946045e-17, "n": "Abnormal insulin level", "c": "HP:0040214"}, {"p": 1.5152357340328436e-14, "p_uncorrected": 4.9356212834946045e-17, "n": "Abnormal circulating insulin level", "c": "HP:0040215"}, {"p": 1.9500056883908283e-14, "p_uncorrected": 6.351810059904978e-17, "n": "Progressive hearing impairment", "c": "HP:0001730"}, {"p": 2.4939874038128746e-14, "p_uncorrected": 8.123737471703174e-17, "n": "Nephronophthisis", "c": "HP:0000090"}, {"p": 2.7035661772422384e-14, "p_uncorrected": 8.80640448613107e-17, "n": "Atypical scarring of skin", "c": "HP:0000987"}, {"p": 4.008932828040028e-14, "p_uncorrected": 1.3058413120651556e-16, "n": "Retinal atrophy", "c": "HP:0001105"}, {"p": 1.5770726338521152e-13, "p_uncorrected": 5.137044409941743e-16, "n": "Abnormality of the renal medulla", "c": "HP:0100957"}, {"p": 5.259073285790678e-13, "p_uncorrected": 1.7130531875539669e-15, "n": "Chorioretinal abnormality", "c": "HP:0000532"}, {"p": 6.659349463318531e-13, "p_uncorrected": 2.1691692062926814e-15, "n": "Poikilocytosis", "c": "HP:0004447"}, {"p": 6.659349463318531e-13, "p_uncorrected": 2.1691692062926814e-15, "n": "Nyctalopia", "c": "HP:0000662"}, {"p": 7.058112904256892e-13, "p_uncorrected": 2.299059577933841e-15, "n": "Progressive visual loss", "c": "HP:0000529"}, {"p": 7.478238672358695e-13, "p_uncorrected": 2.4359083623318224e-15, "n": "Type II diabetes mellitus", "c": "HP:0005978"}, {"p": 1.050722902848435e-12, "p_uncorrected": 3.4225501721447396e-15, "n": "Abnormality of the retinal vasculature", "c": "HP:0008046"}, {"p": 1.050722902848435e-12, "p_uncorrected": 3.4225501721447396e-15, "n": "Abnormal electroretinogram", "c": "HP:0000512"}, {"p": 1.050722902848435e-12, "p_uncorrected": 3.4225501721447396e-15, "n": "Abnormality of the choroid", "c": "HP:0000610"}, {"p": 1.1738758145094465e-12, "p_uncorrected": 3.823699721529142e-15, "n": "Aplasia/Hypoplasia affecting the fundus", "c": "HP:0008057"}, {"p": 1.2401964820000423e-12, "p_uncorrected": 4.039727954397532e-15, "n": "Retinal neoplasm", "c": "HP:0012777"}, {"p": 1.2401964820000423e-12, "p_uncorrected": 4.039727954397532e-15, "n": "Retinoblastoma", "c": "HP:0009919"}, {"p": 1.8071448747244773e-12, "p_uncorrected": 5.8864653899820104e-15, "n": "Rod-cone dystrophy", "c": "HP:0000510"}, {"p": 2.4683037784772113e-12, "p_uncorrected": 8.040077454323164e-15, "n": "Neurodegeneration", "c": "HP:0002180"}, {"p": 4.478830903968583e-12, "p_uncorrected": 1.4589025745826002e-14, "n": "Visual field defect", "c": "HP:0001123"}, {"p": 6.241419062480174e-12, "p_uncorrected": 2.0330355252378417e-14, "n": "Photophobia", "c": "HP:0000613"}, {"p": 8.224646178578066e-12, "p_uncorrected": 2.679037843185038e-14, "n": "Neoplasm of the eye", "c": "HP:0100012"}, {"p": 9.414914677027705e-12, "p_uncorrected": 3.0667474518005555e-14, "n": "Abnormal visual electrophysiology", "c": "HP:0030453"}, {"p": 1.1746775963207132e-11, "p_uncorrected": 3.8263113886668185e-14, "n": "Retinal degeneration", "c": "HP:0000546"}, {"p": 1.1746775963207132e-11, "p_uncorrected": 3.8263113886668185e-14, "n": "Abnormality of cholesterol metabolism", "c": "HP:0003107"}, {"p": 1.2271185604454866e-11, "p_uncorrected": 3.99712886138595e-14, "n": "Abnormality of the curvature of the cornea", "c": "HP:0100691"}, {"p": 1.2816571631169346e-11, "p_uncorrected": 4.174779032954184e-14, "n": "Gliosis", "c": "HP:0002171"}, {"p": 1.588495014454129e-11, "p_uncorrected": 5.174250861414101e-14, "n": "Abnormal macular morphology", "c": "HP:0001103"}, {"p": 1.588495014454129e-11, "p_uncorrected": 5.174250861414101e-14, "n": "Conductive hearing impairment", "c": "HP:0000405"}, {"p": 1.802887603054271e-11, "p_uncorrected": 5.872598055551371e-14, "n": "Blindness", "c": "HP:0000618"}, {"p": 2.5076918624406142e-11, "p_uncorrected": 8.168377402086691e-14, "n": "Functional abnormality of the middle ear", "c": "HP:0011452"}, {"p": 3.732511675833473e-11, "p_uncorrected": 1.2158018488056917e-13, "n": "Ophthalmoplegia", "c": "HP:0000602"}, {"p": 4.192831051586348e-11, "p_uncorrected": 1.3657430135460415e-13, "n": "Embryonal neoplasm", "c": "HP:0002898"}, {"p": 7.091426267827702e-11, "p_uncorrected": 2.3099108364259617e-13, "n": "Retinopathy", "c": "HP:0000488"}, {"p": 7.355048062205055e-11, "p_uncorrected": 2.3957811277540893e-13, "n": "Ophthalmoparesis", "c": "HP:0000597"}, {"p": 8.810257081441287e-11, "p_uncorrected": 2.869790580274035e-13, "n": "Pigmentary retinopathy", "c": "HP:0000580"}, {"p": 8.810257081441287e-11, "p_uncorrected": 2.869790580274035e-13, "n": "Polydactyly", "c": "HP:0010442"}, {"p": 1.388190595549975e-10, "p_uncorrected": 4.5217934708468243e-13, "n": "Microphthalmia", "c": "HP:0000568"}, {"p": 1.388190595549975e-10, "p_uncorrected": 4.5217934708468243e-13, "n": "Abnormality of the vasculature of the eye", "c": "HP:0008047"}, {"p": 1.700756278473561e-10, "p_uncorrected": 5.539922731184238e-13, "n": "Upper limb undergrowth", "c": "HP:0009824"}, {"p": 2.075293589422645e-10, "p_uncorrected": 6.759913972060733e-13, "n": "Retinal dystrophy", "c": "HP:0000556"}, {"p": 2.3646302288247017e-10, "p_uncorrected": 7.702378595520201e-13, "n": "Abnormality of globe size", "c": "HP:0100887"}, {"p": 5.981776395427826e-10, "p_uncorrected": 1.9484613665888684e-12, "n": "Abnormality of the glial cells", "c": "HP:0100705"}, {"p": 6.727486481875538e-10, "p_uncorrected": 2.1913636748780254e-12, "n": "Hypogonadism", "c": "HP:0000135"}, {"p": 6.926524543477764e-10, "p_uncorrected": 2.2561969196995973e-12, "n": "Abnormality of circulating hormone level", "c": "HP:0003117"}, {"p": 7.776774899705444e-10, "p_uncorrected": 2.5331514331288093e-12, "n": "Hypoplasia of penis", "c": "HP:0008736"}, {"p": 8.474892365194142e-10, "p_uncorrected": 2.760551259020893e-12, "n": "Neuroepithelial neoplasm", "c": "HP:0030063"}, {"p": 9.228914326532511e-10, "p_uncorrected": 3.0061610184144985e-12, "n": "Neuroectodermal neoplasm", "c": "HP:0030061"}, {"p": 9.228914326532511e-10, "p_uncorrected": 3.0061610184144985e-12, "n": "Nervous tissue neoplasm", "c": "HP:0030060"}, {"p": 1.1543718428324624e-09, "p_uncorrected": 3.760168869161115e-12, "n": "Glaucoma", "c": "HP:0000501"}, {"p": 1.2198554340554865e-09, "p_uncorrected": 3.973470469236112e-12, "n": "Wide nasal bridge", "c": "HP:0000431"}, {"p": 1.3984366259310385e-09, "p_uncorrected": 4.555168162641819e-12, "n": "Visual loss", "c": "HP:0000572"}, {"p": 1.6879988822761898e-09, "p_uncorrected": 5.498367694710716e-12, "n": "Abnormality of lipid metabolism", "c": "HP:0003119"}, {"p": 1.7334975044422942e-09, "p_uncorrected": 5.646571675707799e-12, "n": "Metrorrhagia", "c": "HP:0100608"}, {"p": 1.9779810642388804e-09, "p_uncorrected": 6.4429350626673635e-12, "n": "Scarring", "c": "HP:0100699"}, {"p": 2.0304474054716845e-09, "p_uncorrected": 6.613835196976171e-12, "n": "Abnormality of retinal pigmentation", "c": "HP:0007703"}, {"p": 2.628331383770522e-09, "p_uncorrected": 8.561340012281831e-12, "n": "Limb undergrowth", "c": "HP:0009826"}, {"p": 3.7316154453488525e-09, "p_uncorrected": 1.2155099170517434e-11, "n": "Obesity", "c": "HP:0001513"}, {"p": 3.919340997996726e-09, "p_uncorrected": 1.2766583055363929e-11, "n": "Hypoplastic male external genitalia", "c": "HP:0000050"}, {"p": 6.321359545900789e-09, "p_uncorrected": 2.0590747706517226e-11, "n": "Abnormality of the middle ear", "c": "HP:0000370"}, {"p": 7.098972376183352e-09, "p_uncorrected": 2.3123688521769875e-11, "n": "Anteverted nares", "c": "HP:0000463"}, {"p": 7.433390275858353e-09, "p_uncorrected": 2.4212997641232422e-11, "n": "Aplasia/Hypoplasia affecting the eye", "c": "HP:0008056"}, {"p": 7.433390275858353e-09, "p_uncorrected": 2.4212997641232422e-11, "n": "External genital hypoplasia", "c": "HP:0003241"}, {"p": 8.145089250918333e-09, "p_uncorrected": 2.6531235345010855e-11, "n": "Increased body weight", "c": "HP:0004324"}, {"p": 9.75530240286726e-09, "p_uncorrected": 3.1776229325300524e-11, "n": "Abnormality of the nares", "c": "HP:0005288"}, {"p": 1.6103309897109546e-08, "p_uncorrected": 5.2453778166480606e-11, "n": "Optic atrophy", "c": "HP:0000648"}, {"p": 1.9060793562044177e-08, "p_uncorrected": 6.208727544639797e-11, "n": "Diabetes mellitus", "c": "HP:0000819"}, {"p": 2.987920944013083e-08, "p_uncorrected": 9.732641511443266e-11, "n": "Abnormality of the nasal alae", "c": "HP:0000429"}, {"p": 5.248020807817572e-08, "p_uncorrected": 1.7094530318624013e-10, "n": "Amyotrophic lateral sclerosis", "c": "HP:0007354"}, {"p": 5.658236502116998e-08, "p_uncorrected": 1.8430737791912046e-10, "n": "Abnormality of the menstrual cycle", "c": "HP:0000140"}, {"p": 5.984595800281632e-08, "p_uncorrected": 1.9493797395054177e-10, "n": "Motor neuron atrophy", "c": "HP:0007373"}, {"p": 6.327799953364802e-08, "p_uncorrected": 2.0611726232458636e-10, "n": "Menstrual irregularities", "c": "HP:0000858"}, {"p": 7.198491237736304e-08, "p_uncorrected": 2.3447854194580793e-10, "n": "Abnormal motor neuron morphology", "c": "HP:0002450"}, {"p": 7.466319549291483e-08, "p_uncorrected": 2.4320259118213297e-10, "n": "Abnormal neuron morphology", "c": "HP:0012757"}, {"p": 7.884897789335068e-08, "p_uncorrected": 2.568370615418589e-10, "n": "Abnormality of the optic disc", "c": "HP:0012795"}, {"p": 1.228397756115146e-07, "p_uncorrected": 4.0012956225249056e-10, "n": "Aplasia/hypoplasia 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"Aplasia/hypoplasia involving bones of the extremities", "c": "HP:0045060"}, {"p": 4.1098926074512013e-07, "p_uncorrected": 1.3387272336974598e-09, "n": "Peripheral neuropathy", "c": "HP:0009830"}, {"p": 4.238018850191182e-07, "p_uncorrected": 1.3804621661860528e-09, "n": "Cataract", "c": "HP:0000518"}, {"p": 4.78725935631177e-07, "p_uncorrected": 1.5593678685054627e-09, "n": "Abnormality of skin pigmentation", "c": "HP:0001000"}, {"p": 4.78725935631177e-07, "p_uncorrected": 1.5593678685054627e-09, "n": "Abnormality of the optic nerve", "c": "HP:0000587"}, {"p": 5.319518140608289e-07, "p_uncorrected": 1.7327420653447194e-09, "n": "Sensorineural hearing impairment", "c": "HP:0000407"}, {"p": 5.563495931254543e-07, "p_uncorrected": 1.812213658389102e-09, "n": "Abnormality of the external nose", "c": "HP:0010938"}, {"p": 5.647031906221201e-07, "p_uncorrected": 1.8394240736876876e-09, "n": "Abnormality of the lens", "c": "HP:0000517"}, {"p": 5.904457001011749e-07, "p_uncorrected": 1.923275896095032e-09, "n": "Aplasia/hypoplasia of the extremities", "c": "HP:0009815"}, {"p": 7.464471377270939e-07, "p_uncorrected": 2.4314239013911853e-09, "n": "Abnormal glucose homeostasis", "c": "HP:0011014"}, {"p": 8.375817156963961e-07, "p_uncorrected": 2.7282792042227886e-09, "n": "Edema", "c": "HP:0000969"}, {"p": 9.123756391914161e-07, "p_uncorrected": 2.9719076195160134e-09, "n": "Abnormality of the nasal bridge", "c": "HP:0000422"}, {"p": 1.0652736599597843e-06, "p_uncorrected": 3.469946775113304e-09, "n": "Abnormal nasal morphology", "c": "HP:0005105"}, {"p": 1.4816609184875052e-06, "p_uncorrected": 4.826257063477215e-09, "n": "Functional abnormality of the inner ear", "c": "HP:0011389"}, {"p": 1.5018195704310955e-06, "p_uncorrected": 4.891920424856989e-09, "n": "Localized skin lesion", "c": "HP:0011355"}, {"p": 1.8844948396305382e-06, "p_uncorrected": 6.1384196730636424e-09, "n": "Abnormality of the inner ear", "c": "HP:0000359"}, {"p": 1.9348465481391357e-06, 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{"p": 1.206054271707303e-16, "n": "Abnormal amplitude of dark-adapted bright flash electroretinogram", "p_uncorrected": 3.928515543020531e-19, "c": "HP:0030478"}, {"p": 1.206054271707303e-16, "n": "Exudative retinopathy", "p_uncorrected": 3.928515543020531e-19, "c": "HP:0007898"}, {"p": 1.5839101496752315e-16, "n": "Abetalipoproteinemia", "p_uncorrected": 5.159316448453523e-19, "c": "HP:0008181"}, {"p": 2.0651383842794574e-16, "n": "Mottled pigmentation", "p_uncorrected": 6.726835127946115e-19, "c": "HP:0001070"}, {"p": 2.0651383842794574e-16, "n": "Decreased light- and dark-adapted electroretinogram amplitude", "p_uncorrected": 6.726835127946115e-19, "c": "HP:0000654"}, {"p": 2.0651383842794574e-16, "n": "Tapetoretinal degeneration", "p_uncorrected": 6.726835127946115e-19, "c": "HP:0000547"}, {"p": 3.0355215014437025e-16, "n": "Vitreoretinal degeneration", "p_uncorrected": 9.887692187113037e-19, "c": "HP:0000655"}, {"p": 3.440257701614546e-16, "n": "Abnormal light- and dark-adapted electroretinogram", "p_uncorrected": 1.1206051145324254e-18, "c": "HP:0008323"}, {"p": 4.398497628785198e-16, "n": "Chorioretinal atrophy", "p_uncorrected": 1.4327353839691198e-18, "c": "HP:0000533"}, {"p": 5.5905604395766495e-16, "n": "Chorioretinal degeneration", "p_uncorrected": 1.8210294591454885e-18, "c": "HP:0200065"}, {"p": 5.5905604395766495e-16, "n": "Pigmentary retinal degeneration", "p_uncorrected": 1.8210294591454885e-18, "c": "HP:0001146"}, {"p": 6.289380494506863e-16, "n": "Decreased circulating low-density lipoprotein levels", "p_uncorrected": 2.0486581415331802e-18, "c": "HP:0003563"}, {"p": 6.289380494506863e-16, "n": "Abnormal full-field electroretinogram", "p_uncorrected": 2.0486581415331802e-18, "c": "HP:0030466"}, {"p": 8.882660716055608e-16, "n": "Macular dystrophy", "p_uncorrected": 2.893374826076745e-18, "c": "HP:0007754"}, {"p": 1.382679693118587e-15, "n": "Hypopigmentation of the fundus", "p_uncorrected": 4.503842648594746e-18, "c": "HP:0007894"}, {"p": 1.9031265438999284e-15, "n": "Undetectable electroretinogram", "p_uncorrected": 6.1991092635176825e-18, "c": "HP:0000550"}, {"p": 2.1122613289451027e-15, "n": "Cystoid macular edema", "p_uncorrected": 6.880330061710433e-18, "c": "HP:0011505"}, {"p": 2.3418549516569064e-15, "n": "Macular edema", "p_uncorrected": 7.628192024941062e-18, "c": "HP:0040049"}, {"p": 2.593667312051605e-15, "n": "Hypolipoproteinemia", "p_uncorrected": 8.44842772655246e-18, "c": "HP:0010981"}, {"p": 2.593667312051605e-15, "n": "Retinal exudate", "p_uncorrected": 8.44842772655246e-18, "c": "HP:0001147"}, {"p": 2.593667312051605e-15, "n": "Acanthocytosis", "p_uncorrected": 8.44842772655246e-18, "c": "HP:0001927"}, {"p": 2.8695893665276034e-15, "n": "Macular thickening", "p_uncorrected": 9.347196633640402e-18, "c": "HP:0030498"}, {"p": 3.1716514051110723e-15, "n": "Aplasia/Hypoplasia of the retina", "p_uncorrected": 1.0331112068765708e-17, "c": "HP:0008061"}, {"p": 3.50203175980966e-15, "n": "Congenital blindness", "p_uncorrected": 1.1407269575927232e-17, "c": "HP:0007875"}, {"p": 3.50203175980966e-15, "n": "Progressive sensorineural hearing impairment", "p_uncorrected": 1.1407269575927232e-17, "c": "HP:0000408"}, {"p": 4.25725636613049e-15, "n": "Keratoconus", "p_uncorrected": 1.3867284580229608e-17, "c": "HP:0000563"}, {"p": 4.25725636613049e-15, "n": "Increased corneal curvature", "p_uncorrected": 1.3867284580229608e-17, "c": "HP:0100692"}, {"p": 4.6872822616738014e-15, "n": "Decreased corneal thickness", "p_uncorrected": 1.52680203963316e-17, "c": "HP:0100689"}, {"p": 5.6665065757932175e-15, "n": "Congenital sensorineural hearing impairment", "p_uncorrected": 1.8457676142648916e-17, "c": "HP:0008527"}, {"p": 6.22204643614839e-15, "n": "Constriction of peripheral visual field", "p_uncorrected": 2.0267252235011042e-17, "c": "HP:0001133"}, {"p": 6.22204643614839e-15, "n": "Abnormality of corneal thickness", "p_uncorrected": 2.0267252235011042e-17, "c": "HP:0011486"}, {"p": 6.826128614391264e-15, "n": "Retinal perforation", "p_uncorrected": 2.2234946626681643e-17, "c": "HP:0011958"}, {"p": 9.806380222363747e-15, "n": "Yellow/white lesions of the retina", "p_uncorrected": 3.194260658750406e-17, "c": "HP:0030506"}, {"p": 1.0714378391101258e-14, "n": "Abnormality of the level of lipoprotein cholesterol", "p_uncorrected": 3.49002553456067e-17, "c": "HP:0010979"}, {"p": 1.1697348885694248e-14, "n": "Macular degeneration", "p_uncorrected": 3.810211363418322e-17, "c": "HP:0000608"}, {"p": 1.2760744238882322e-14, "n": "Hyperinsulinemia", "p_uncorrected": 4.156594214619649e-17, "c": "HP:0000842"}, {"p": 1.3910360837022003e-14, "n": "Cone/cone-rod dystrophy", "p_uncorrected": 4.531062161896418e-17, "c": "HP:0000548"}, {"p": 1.5152357340328436e-14, "n": "Abnormal circulating insulin level", "p_uncorrected": 4.9356212834946045e-17, "c": "HP:0040215"}, {"p": 1.5152357340328436e-14, "n": "Abnormal insulin level", "p_uncorrected": 4.9356212834946045e-17, "c": "HP:0040214"}, {"p": 1.9500056883908283e-14, "n": "Progressive hearing impairment", "p_uncorrected": 6.351810059904978e-17, "c": "HP:0001730"}, {"p": 2.4939874038128746e-14, "n": "Nephronophthisis", "p_uncorrected": 8.123737471703174e-17, "c": "HP:0000090"}, {"p": 2.7035661772422384e-14, "n": "Atypical scarring of skin", "p_uncorrected": 8.80640448613107e-17, "c": "HP:0000987"}, {"p": 4.008932828040028e-14, "n": "Retinal atrophy", "p_uncorrected": 1.3058413120651556e-16, "c": "HP:0001105"}, {"p": 1.5770726338521152e-13, "n": "Abnormality of the renal medulla", "p_uncorrected": 5.137044409941743e-16, "c": "HP:0100957"}, {"p": 5.259073285790678e-13, "n": "Chorioretinal abnormality", "p_uncorrected": 1.7130531875539669e-15, "c": "HP:0000532"}, {"p": 6.659349463318531e-13, "n": "Poikilocytosis", "p_uncorrected": 2.1691692062926814e-15, "c": "HP:0004447"}, {"p": 6.659349463318531e-13, "n": "Nyctalopia", "p_uncorrected": 2.1691692062926814e-15, "c": "HP:0000662"}, {"p": 7.058112904256892e-13, "n": "Progressive visual loss", "p_uncorrected": 2.299059577933841e-15, "c": "HP:0000529"}, {"p": 7.478238672358695e-13, "n": "Type II diabetes mellitus", "p_uncorrected": 2.4359083623318224e-15, "c": "HP:0005978"}, {"p": 1.050722902848435e-12, "n": "Abnormality of the choroid", "p_uncorrected": 3.4225501721447396e-15, "c": "HP:0000610"}, {"p": 1.050722902848435e-12, "n": "Abnormal electroretinogram", "p_uncorrected": 3.4225501721447396e-15, "c": "HP:0000512"}, {"p": 1.050722902848435e-12, "n": "Abnormality of the retinal vasculature", "p_uncorrected": 3.4225501721447396e-15, "c": "HP:0008046"}, {"p": 1.1738758145094465e-12, "n": "Aplasia/Hypoplasia affecting the fundus", "p_uncorrected": 3.823699721529142e-15, "c": "HP:0008057"}, {"p": 1.2401964820000423e-12, "n": "Retinoblastoma", "p_uncorrected": 4.039727954397532e-15, "c": "HP:0009919"}, {"p": 1.2401964820000423e-12, "n": "Retinal neoplasm", "p_uncorrected": 4.039727954397532e-15, "c": "HP:0012777"}, {"p": 1.8071448747244773e-12, "n": "Rod-cone dystrophy", "p_uncorrected": 5.8864653899820104e-15, "c": "HP:0000510"}, {"p": 2.4683037784772113e-12, "n": "Neurodegeneration", "p_uncorrected": 8.040077454323164e-15, "c": "HP:0002180"}, {"p": 4.478830903968583e-12, "n": "Visual field defect", "p_uncorrected": 1.4589025745826002e-14, "c": "HP:0001123"}, {"p": 6.241419062480174e-12, "n": "Photophobia", "p_uncorrected": 2.0330355252378417e-14, "c": "HP:0000613"}, {"p": 8.224646178578066e-12, "n": "Neoplasm of the eye", "p_uncorrected": 2.679037843185038e-14, "c": "HP:0100012"}, {"p": 9.414914677027705e-12, "n": "Abnormal visual electrophysiology", "p_uncorrected": 3.0667474518005555e-14, "c": "HP:0030453"}, {"p": 1.1746775963207132e-11, "n": "Abnormality of cholesterol metabolism", "p_uncorrected": 3.8263113886668185e-14, "c": "HP:0003107"}, {"p": 1.1746775963207132e-11, "n": "Retinal degeneration", "p_uncorrected": 3.8263113886668185e-14, "c": "HP:0000546"}, {"p": 1.2271185604454866e-11, "n": "Abnormality of the curvature of the cornea", "p_uncorrected": 3.99712886138595e-14, "c": "HP:0100691"}, {"p": 1.2816571631169346e-11, "n": "Gliosis", "p_uncorrected": 4.174779032954184e-14, "c": "HP:0002171"}, {"p": 1.588495014454129e-11, "n": "Conductive hearing impairment", "p_uncorrected": 5.174250861414101e-14, "c": "HP:0000405"}, {"p": 1.588495014454129e-11, "n": "Abnormal macular morphology", "p_uncorrected": 5.174250861414101e-14, "c": "HP:0001103"}, {"p": 1.802887603054271e-11, "n": "Blindness", "p_uncorrected": 5.872598055551371e-14, "c": "HP:0000618"}, {"p": 2.5076918624406142e-11, "n": "Functional abnormality of the middle ear", "p_uncorrected": 8.168377402086691e-14, "c": "HP:0011452"}, {"p": 3.732511675833473e-11, "n": "Ophthalmoplegia", "p_uncorrected": 1.2158018488056917e-13, "c": "HP:0000602"}, {"p": 4.192831051586348e-11, "n": "Embryonal neoplasm", "p_uncorrected": 1.3657430135460415e-13, "c": "HP:0002898"}, {"p": 7.091426267827702e-11, "n": "Retinopathy", "p_uncorrected": 2.3099108364259617e-13, "c": "HP:0000488"}, {"p": 7.355048062205055e-11, "n": "Ophthalmoparesis", "p_uncorrected": 2.3957811277540893e-13, "c": "HP:0000597"}, {"p": 8.810257081441287e-11, "n": "Pigmentary retinopathy", "p_uncorrected": 2.869790580274035e-13, "c": "HP:0000580"}, {"p": 8.810257081441287e-11, "n": "Polydactyly", "p_uncorrected": 2.869790580274035e-13, "c": "HP:0010442"}, {"p": 1.388190595549975e-10, "n": "Abnormality of the vasculature of the eye", "p_uncorrected": 4.5217934708468243e-13, "c": "HP:0008047"}, {"p": 1.388190595549975e-10, "n": "Microphthalmia", "p_uncorrected": 4.5217934708468243e-13, "c": "HP:0000568"}, {"p": 1.700756278473561e-10, "n": "Upper limb undergrowth", "p_uncorrected": 5.539922731184238e-13, "c": "HP:0009824"}, {"p": 2.075293589422645e-10, "n": "Retinal dystrophy", "p_uncorrected": 6.759913972060733e-13, "c": "HP:0000556"}, {"p": 2.3646302288247017e-10, "n": "Abnormality of globe size", "p_uncorrected": 7.702378595520201e-13, "c": "HP:0100887"}, {"p": 5.981776395427826e-10, "n": "Abnormality of the glial cells", "p_uncorrected": 1.9484613665888684e-12, "c": "HP:0100705"}, {"p": 6.727486481875538e-10, "n": "Hypogonadism", "p_uncorrected": 2.1913636748780254e-12, "c": "HP:0000135"}, {"p": 6.926524543477764e-10, "n": "Abnormality of circulating hormone level", "p_uncorrected": 2.2561969196995973e-12, "c": "HP:0003117"}, {"p": 7.776774899705444e-10, "n": "Hypoplasia of penis", "p_uncorrected": 2.5331514331288093e-12, "c": "HP:0008736"}, {"p": 8.474892365194142e-10, "n": "Neuroepithelial neoplasm", "p_uncorrected": 2.760551259020893e-12, "c": "HP:0030063"}, {"p": 9.228914326532511e-10, "n": "Nervous tissue neoplasm", "p_uncorrected": 3.0061610184144985e-12, "c": "HP:0030060"}, {"p": 9.228914326532511e-10, "n": "Neuroectodermal neoplasm", "p_uncorrected": 3.0061610184144985e-12, "c": "HP:0030061"}, {"p": 1.1543718428324624e-09, "n": "Glaucoma", "p_uncorrected": 3.760168869161115e-12, "c": "HP:0000501"}, {"p": 1.2198554340554865e-09, "n": "Wide nasal bridge", "p_uncorrected": 3.973470469236112e-12, "c": "HP:0000431"}, {"p": 1.3984366259310385e-09, "n": "Visual loss", "p_uncorrected": 4.555168162641819e-12, "c": "HP:0000572"}, {"p": 1.6879988822761898e-09, "n": "Abnormality of lipid metabolism", "p_uncorrected": 5.498367694710716e-12, "c": "HP:0003119"}, {"p": 1.7334975044422942e-09, "n": "Metrorrhagia", "p_uncorrected": 5.646571675707799e-12, "c": "HP:0100608"}, {"p": 1.9779810642388804e-09, "n": "Scarring", "p_uncorrected": 6.4429350626673635e-12, "c": "HP:0100699"}, {"p": 2.0304474054716845e-09, "n": "Abnormality of retinal pigmentation", "p_uncorrected": 6.613835196976171e-12, "c": "HP:0007703"}, {"p": 2.628331383770522e-09, "n": "Limb undergrowth", "p_uncorrected": 8.561340012281831e-12, "c": "HP:0009826"}, {"p": 3.7316154453488525e-09, "n": "Obesity", "p_uncorrected": 1.2155099170517434e-11, "c": "HP:0001513"}, {"p": 3.919340997996726e-09, "n": "Hypoplastic male external genitalia", "p_uncorrected": 1.2766583055363929e-11, "c": "HP:0000050"}, {"p": 6.321359545900789e-09, "n": "Abnormality of the middle ear", "p_uncorrected": 2.0590747706517226e-11, "c": "HP:0000370"}, {"p": 7.098972376183352e-09, "n": "Anteverted nares", "p_uncorrected": 2.3123688521769875e-11, "c": "HP:0000463"}, {"p": 7.433390275858353e-09, "n": "External genital hypoplasia", "p_uncorrected": 2.4212997641232422e-11, "c": "HP:0003241"}, {"p": 7.433390275858353e-09, "n": "Aplasia/Hypoplasia affecting the eye", "p_uncorrected": 2.4212997641232422e-11, "c": "HP:0008056"}, {"p": 8.145089250918333e-09, "n": "Increased body weight", "p_uncorrected": 2.6531235345010855e-11, "c": "HP:0004324"}, {"p": 9.75530240286726e-09, "n": "Abnormality of the nares", "p_uncorrected": 3.1776229325300524e-11, "c": "HP:0005288"}, {"p": 1.6103309897109546e-08, "n": "Optic atrophy", "p_uncorrected": 5.2453778166480606e-11, "c": "HP:0000648"}, {"p": 1.9060793562044177e-08, "n": "Diabetes mellitus", "p_uncorrected": 6.208727544639797e-11, "c": "HP:0000819"}, {"p": 2.987920944013083e-08, "n": "Abnormality of the nasal alae", "p_uncorrected": 9.732641511443266e-11, "c": "HP:0000429"}, {"p": 5.248020807817572e-08, "n": "Amyotrophic lateral sclerosis", "p_uncorrected": 1.7094530318624013e-10, "c": "HP:0007354"}, {"p": 5.658236502116998e-08, "n": "Abnormality of the menstrual cycle", "p_uncorrected": 1.8430737791912046e-10, "c": "HP:0000140"}, {"p": 5.984595800281632e-08, "n": "Motor neuron atrophy", "p_uncorrected": 1.9493797395054177e-10, "c": "HP:0007373"}, {"p": 6.327799953364802e-08, "n": "Menstrual irregularities", "p_uncorrected": 2.0611726232458636e-10, "c": "HP:0000858"}, {"p": 7.198491237736304e-08, "n": "Abnormal motor neuron morphology", "p_uncorrected": 2.3447854194580793e-10, "c": "HP:0002450"}, {"p": 7.466319549291483e-08, "n": "Abnormal neuron morphology", "p_uncorrected": 2.4320259118213297e-10, "c": "HP:0012757"}, {"p": 7.884897789335068e-08, "n": "Abnormality of the optic disc", "p_uncorrected": 2.568370615418589e-10, "c": "HP:0012795"}, {"p": 1.228397756115146e-07, "n": "Aplasia/hypoplasia involving bones of the upper limbs", "p_uncorrected": 4.0012956225249056e-10, "c": "HP:0006496"}, {"p": 1.483975077425636e-07, "n": "Hyperreflexia", "p_uncorrected": 4.833795040474385e-10, "c": "HP:0001347"}, {"p": 1.5352755857272025e-07, "n": "Abnormality of the uvea", "p_uncorrected": 5.00089767337851e-10, "c": "HP:0000553"}, {"p": 1.5352755857272025e-07, "n": "Abnormality of the penis", "p_uncorrected": 5.00089767337851e-10, "c": "HP:0000036"}, {"p": 1.6426921240078137e-07, "n": "Neoplasm by histology", "p_uncorrected": 5.350788677549882e-10, "c": "HP:0011792"}, {"p": 2.25119429172574e-07, "n": "Abnormality of reproductive system physiology", "p_uncorrected": 7.332880429074072e-10, "c": "HP:0000080"}, {"p": 3.0555431964818125e-07, "n": "Abnormality of the cornea", "p_uncorrected": 9.952909434794178e-10, "c": "HP:0000481"}, {"p": 3.2038455159280755e-07, "n": "Visual impairment", "p_uncorrected": 1.0435978879244546e-09, "c": "HP:0000505"}, {"p": 3.9242331225647995e-07, "n": "Aplasia/hypoplasia involving bones of the extremities", "p_uncorrected": 1.278251831454332e-09, "c": "HP:0045060"}, {"p": 4.1098926074512013e-07, "n": "Peripheral neuropathy", "p_uncorrected": 1.3387272336974598e-09, "c": "HP:0009830"}, {"p": 4.238018850191182e-07, "n": "Cataract", "p_uncorrected": 1.3804621661860528e-09, "c": "HP:0000518"}, {"p": 4.78725935631177e-07, "n": "Abnormality of the optic nerve", "p_uncorrected": 1.5593678685054627e-09, "c": "HP:0000587"}, {"p": 4.78725935631177e-07, "n": "Abnormality of skin pigmentation", "p_uncorrected": 1.5593678685054627e-09, "c": "HP:0001000"}, {"p": 5.319518140608289e-07, "n": "Sensorineural hearing impairment", "p_uncorrected": 1.7327420653447194e-09, "c": "HP:0000407"}, {"p": 5.563495931254543e-07, "n": "Abnormality of the external nose", "p_uncorrected": 1.812213658389102e-09, "c": "HP:0010938"}, {"p": 5.647031906221201e-07, "n": "Abnormality of the lens", "p_uncorrected": 1.8394240736876876e-09, "c": "HP:0000517"}, {"p": 5.904457001011749e-07, "n": "Aplasia/hypoplasia of the extremities", "p_uncorrected": 1.923275896095032e-09, "c": "HP:0009815"}, {"p": 7.464471377270939e-07, "n": "Abnormal glucose homeostasis", "p_uncorrected": 2.4314239013911853e-09, "c": "HP:0011014"}, {"p": 8.375817156963961e-07, "n": "Edema", "p_uncorrected": 2.7282792042227886e-09, "c": "HP:0000969"}, {"p": 9.123756391914161e-07, "n": "Abnormality of the nasal bridge", "p_uncorrected": 2.9719076195160134e-09, "c": "HP:0000422"}, {"p": 1.0652736599597843e-06, "n": "Abnormal nasal morphology", "p_uncorrected": 3.469946775113304e-09, "c": "HP:0005105"}, {"p": 1.4816609184875052e-06, "n": "Functional abnormality of the inner ear", "p_uncorrected": 4.826257063477215e-09, "c": "HP:0011389"}, {"p": 1.5018195704310955e-06, "n": "Localized skin lesion", "p_uncorrected": 4.891920424856989e-09, "c": "HP:0011355"}, {"p": 1.8844948396305382e-06, "n": "Abnormality of the inner ear", "p_uncorrected": 6.1384196730636424e-09, "c": "HP:0000359"}, {"p": 1.9348465481391357e-06, "n": "Abnormality of carbohydrate metabolism/homeostasis", "p_uncorrected": 6.302431752896208e-09, "c": "HP:0011013"}, {"p": 2.066065317689044e-06, "n": "Puberty and gonadal disorders", "p_uncorrected": 6.729854455013172e-09, "c": "HP:0008373"}, {"p": 2.1767481626287405e-06, "n": "Abnormality of female internal genitalia", "p_uncorrected": 7.0903848945561585e-09, "c": "HP:0000008"}, {"p": 2.3225926077022225e-06, "n": "Abnormality of fluid regulation", "p_uncorrected": 7.565448233557727e-09, "c": "HP:0011032"}, {"p": 2.5743067328521833e-06, "n": "Abnormality of the testis", "p_uncorrected": 8.385363950658578e-09, "c": "HP:0000035"}, {"p": 2.7438357503096225e-06, "n": "Nystagmus", "p_uncorrected": 8.937575733907565e-09, "c": "HP:0000639"}, {"p": 3.1924265166540625e-06, "n": "Abnormal involuntary eye movements", "p_uncorrected": 1.039878344186991e-08, "c": "HP:0012547"}, {"p": 3.941055199038619e-06, "n": "Abnormal internal genitalia", "p_uncorrected": 1.2837313351917324e-08, "c": "HP:0000812"}, {"p": 4.3982513901891805e-06, "n": "Abnormality of erythrocytes", "p_uncorrected": 1.4326551759573878e-08, "c": "HP:0001877"}, {"p": 4.729009605111635e-06, "n": "Abnormality of the female genitalia", "p_uncorrected": 1.5403940081796854e-08, "c": "HP:0010460"}, {"p": 9.081642576385783e-06, "n": "Ataxia", "p_uncorrected": 2.958189764295043e-08, "c": "HP:0001251"}, {"p": 9.499843448701236e-06, "n": "Abnormal retinal morphology", "p_uncorrected": 3.09441154680822e-08, "c": "HP:0000479"}, {"p": 1.4273095112661205e-05, "n": "Abnormal renal morphology", "p_uncorrected": 4.649216649075311e-08, "c": "HP:0012210"}, {"p": 1.458387749487557e-05, "n": "Abnormality of male external genitalia", "p_uncorrected": 4.750448695399209e-08, "c": "HP:0000032"}, {"p": 1.5888839675674068e-05, "n": "Abnormality of coordination", "p_uncorrected": 5.17551780966582e-08, "c": "HP:0011443"}, {"p": 1.729796819095009e-05, "n": "Atrophy/Degeneration affecting the central nervous system", "p_uncorrected": 5.6345173260423745e-08, "c": "HP:0007367"}, {"p": 1.7854728108751475e-05, "n": "Abnormal external genitalia", "p_uncorrected": 5.8158723481275166e-08, "c": "HP:0000811"}, {"p": 2.2456195406528198e-05, "n": "Abnormality of vision", "p_uncorrected": 7.314721630790944e-08, "c": "HP:0000504"}, {"p": 2.5135309938722395e-05, "n": "Abnormal peripheral nervous system morphology", "p_uncorrected": 8.187397374176675e-08, "c": "HP:0000759"}, {"p": 3.23236138618761e-05, "n": "Abnormality of the male genitalia", "p_uncorrected": 1.0528864450122508e-07, "c": "HP:0010461"}, {"p": 3.2971690409923215e-05, "n": "Aplasia/hypoplasia involving the skeleton", "p_uncorrected": 1.0739964302906584e-07, "c": "HP:0009115"}, {"p": 3.464335079920156e-05, "n": "Abnormality of digit", "p_uncorrected": 1.1284479087687803e-07, "c": "HP:0011297"}, {"p": 6.881496226463522e-05, "n": "Short stature", "p_uncorrected": 2.2415297154604308e-07, "c": "HP:0004322"}, {"p": 7.611517703089195e-05, "n": "Muscle weakness", "p_uncorrected": 2.479321727390617e-07, "c": "HP:0001324"}, {"p": 8.259858594747801e-05, "n": "Abnormality of the anterior segment of the globe", "p_uncorrected": 2.690507685585603e-07, "c": "HP:0004328"}, {"p": 0.0001138007728773714, "n": "Upper motor neuron dysfunction", "p_uncorrected": 3.7068655660381564e-07, "c": "HP:0002493"}, {"p": 0.00011888491829110587, "n": "Neoplasm by anatomical site", "p_uncorrected": 3.8724729085050773e-07, "c": "HP:0011793"}, {"p": 0.00012097516293517722, "n": "Abnormality of the fundus", "p_uncorrected": 3.9405590532631017e-07, "c": "HP:0001098"}, {"p": 0.00012417258265780599, "n": "Abnormality of the posterior segment of the globe", "p_uncorrected": 4.044709532827557e-07, "c": "HP:0004329"}, {"p": 0.00015262060533597588, "n": "Hearing impairment", "p_uncorrected": 4.971355222670225e-07, "c": "HP:0000365"}, {"p": 0.00016059211883394877, "n": "Neoplasm", "p_uncorrected": 5.231013642799634e-07, "c": "HP:0002664"}, {"p": 0.00017325315786960351, "n": "Abnormality of the cerebellum", "p_uncorrected": 5.643425337772102e-07, "c": "HP:0001317"}, {"p": 0.00017618587241738414, "n": "Abnormality of the metencephalon", "p_uncorrected": 5.738953498937594e-07, "c": "HP:0011283"}, {"p": 0.00017618587241738414, "n": "Abnormality of hindbrain morphology", "p_uncorrected": 5.738953498937594e-07, "c": "HP:0011282"}, {"p": 0.00017916319029463729, "n": "Hearing abnormality", "p_uncorrected": 5.835934537284602e-07, "c": "HP:0000364"}, {"p": 0.00018218571347576067, "n": "Abnormality of body height", "p_uncorrected": 5.934388061099696e-07, "c": "HP:0000002"}, {"p": 0.00022960204326684703, "n": "Abnormality of the kidney", "p_uncorrected": 7.478893917486874e-07, "c": "HP:0000077"}, {"p": 0.0002391515950095283, "n": "Abnormality of limb bone morphology", "p_uncorrected": 7.789954234838055e-07, "c": "HP:0002813"}, {"p": 0.00024905713587446506, "n": "Abnormal reproductive system morphology", "p_uncorrected": 8.112610289070523e-07, "c": "HP:0012243"}, {"p": 0.00025312164937551113, "n": "Abnormality of eye movement", "p_uncorrected": 8.245004865651829e-07, "c": "HP:0000496"}, {"p": 0.0002699835132109949, "n": "Abnormality of the upper urinary tract", "p_uncorrected": 8.794251244657815e-07, "c": "HP:0010935"}, {"p": 0.0002721607996075025, "n": "Abnormality of the endocrine system", "p_uncorrected": 8.865172625651547e-07, "c": "HP:0000818"}, {"p": 0.000350750188320614, "n": "Abnormality of the nose", "p_uncorrected": 1.142508756744671e-06, "c": "HP:0000366"}, {"p": 0.0006114146839577272, "n": "Abnormality of connective tissue", "p_uncorrected": 1.9915787751066032e-06, "c": "HP:0003549"}, {"p": 0.0006205299480287158, "n": "Abnormality of the genital system", "p_uncorrected": 2.0212701890186184e-06, "c": "HP:0000078"}, {"p": 0.0008069550626492879, "n": "Abnormality of the upper limb", "p_uncorrected": 2.628518119378788e-06, "c": "HP:0002817"}, {"p": 0.0008921120254797562, "n": "Abnormality of limb bone", "p_uncorrected": 2.905902363126242e-06, "c": "HP:0040068"}, {"p": 0.0009992733379070886, "n": "Abnormality of the orbital region", "p_uncorrected": 3.254962012726673e-06, "c": "HP:0000315"}, {"p": 0.001310620639930439, "n": "Intellectual disability", "p_uncorrected": 4.269122605636609e-06, "c": "HP:0001249"}, {"p": 0.0013287166742452364, "n": "Global developmental delay", "p_uncorrected": 4.32806734281836e-06, "c": "HP:0001263"}, {"p": 0.001393837501355185, "n": "Seizures", "p_uncorrected": 4.540187300831222e-06, "c": "HP:0001250"}, {"p": 0.00144209606825589, "n": "Abnormal appendicular skeleton morphology", "p_uncorrected": 4.697381329823746e-06, "c": "HP:0011844"}, {"p": 0.0015535980630793837, "n": "Behavioral abnormality", "p_uncorrected": 5.060580010030566e-06, "c": "HP:0000708"}, {"p": 0.0015853247689068327, "n": "Abnormality of the vasculature", "p_uncorrected": 5.163924328686751e-06, "c": "HP:0002597"}, {"p": 0.0016953367076601303, "n": "Abnormality of body weight", "p_uncorrected": 5.522269406059057e-06, "c": "HP:0004323"}, {"p": 0.001848609048286737, "n": "Abnormality of blood and blood-forming tissues", "p_uncorrected": 6.021527844582205e-06, "c": "HP:0001871"}, {"p": 0.0020950978592187467, "n": "Growth delay", "p_uncorrected": 6.8244229941978716e-06, "c": "HP:0001510"}, {"p": 0.0030266555423608833, "n": "Bone spicule pigmentation of the retina", "p_uncorrected": 9.858812841566396e-06, "c": "HP:0007737"}, {"p": 0.004174007346542459, "n": "Abnormality of the urinary system", "p_uncorrected": 1.3596115135317457e-05, "c": "HP:0000079"}, {"p": 0.005126939374012541, "n": "Abnormality of central motor function", "p_uncorrected": 1.6700128254112513e-05, "c": "HP:0011442"}, {"p": 0.00540995350440465, "n": "Neurodevelopmental delay", "p_uncorrected": 1.76219983856829e-05, "c": "HP:0012758"}, {"p": 0.00608983167308619, "n": "Abnormality of skin morphology", "p_uncorrected": 1.9836585254352408e-05, "c": "HP:0011121"}, {"p": 0.006688071979710432, "n": "Abnormality of the ear", "p_uncorrected": 2.178525074824245e-05, "c": "HP:0000598"}, {"p": 0.012588335067972373, "n": "Abnormality of limbs", "p_uncorrected": 4.100434875561034e-05, "c": "HP:0040064"}, {"p": 0.013734914174553314, "n": "Abnormality of the skin", "p_uncorrected": 4.473913411906617e-05, "c": "HP:0000951"}, {"p": 0.024146525032660786, "n": "Abnormal eye physiology", "p_uncorrected": 7.86531760021524e-05, "c": "HP:0012373"}, {"p": 0.03252935640175157, "n": "Abnormality of the globe", "p_uncorrected": 0.00010595881564088459, "c": "HP:0012374"}, {"p": 0.03334787037817537, "n": "Abnormal eye morphology", "p_uncorrected": 0.00010862498494519663, "c": "HP:0012372"}, {"p": 0.034524935406332564, "n": "Abnormality of the genitourinary system", "p_uncorrected": 0.00011245907298479663, "c": "HP:0000119"}, {"p": 0.039139246044852014, "n": "Undetectable light- and dark-adapted electroretinogram", "p_uncorrected": 0.00012748940079756357, "c": "HP:0007688"}, {"p": 0.039139246044852014, "n": "Peripheral visual field loss", "p_uncorrected": 0.00012748940079756357, "c": "HP:0007994"}, {"p": 0.043868013802690724, "n": "Neurodevelopmental abnormality", "p_uncorrected": 0.0001428925531032271, "c": "HP:0012759"}, {"p": 0.04946207981041838, "n": "Abnormality of muscle physiology", "p_uncorrected": 0.0001611142664834475, "c": "HP:0011804"}]}
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/bioentityset-overrepresentation.tsv Mon Dec 04 19:35:12 2017 -0500 @@ -0,0 +1,224 @@ +p n p_uncorrected c +6.830958069760975e-17 Peripheral retinal degeneration 2.2250677751664415e-19 HP:0007769 +6.830958069760975e-17 Hypoplasia of the retina 2.2250677751664415e-19 HP:0007770 +7.89829526810427e-17 Retinal hole 2.572734615017678e-19 HP:0011530 +7.89829526810427e-17 Progressive cone degeneration 2.572734615017678e-19 HP:0008020 +7.89829526810427e-17 Progressive night blindness 2.572734615017678e-19 HP:0007675 +7.89829526810427e-17 Subretinal exudate 2.572734615017678e-19 HP:0011532 +1.0494238468181382e-16 Progressive retinal degeneration 3.418318719277323e-19 HP:0007893 +1.206054271707303e-16 Abnormal dark-adapted bright flash electroretinogram 3.928515543020531e-19 HP:0030470 +1.206054271707303e-16 Severe sensorineural hearing impairment 3.928515543020531e-19 HP:0008625 +1.206054271707303e-16 Severe hearing impairment 3.928515543020531e-19 HP:0012714 +1.206054271707303e-16 Electronegative electroretinogram 3.928515543020531e-19 HP:0007984 +1.206054271707303e-16 Age-related macular degeneration 3.928515543020531e-19 HP:0007868 +1.206054271707303e-16 Abnormal dark-adapted electroretinogram 3.928515543020531e-19 HP:0030469 +1.206054271707303e-16 Abnormal amplitude of dark-adapted bright flash electroretinogram 3.928515543020531e-19 HP:0030478 +1.206054271707303e-16 Exudative retinopathy 3.928515543020531e-19 HP:0007898 +1.5839101496752315e-16 Abetalipoproteinemia 5.159316448453523e-19 HP:0008181 +2.0651383842794574e-16 Mottled pigmentation 6.726835127946115e-19 HP:0001070 +2.0651383842794574e-16 Decreased light- and dark-adapted electroretinogram amplitude 6.726835127946115e-19 HP:0000654 +2.0651383842794574e-16 Tapetoretinal degeneration 6.726835127946115e-19 HP:0000547 +3.0355215014437025e-16 Vitreoretinal degeneration 9.887692187113037e-19 HP:0000655 +3.440257701614546e-16 Abnormal light- and dark-adapted electroretinogram 1.1206051145324254e-18 HP:0008323 +4.398497628785198e-16 Chorioretinal atrophy 1.4327353839691198e-18 HP:0000533 +5.5905604395766495e-16 Chorioretinal degeneration 1.8210294591454885e-18 HP:0200065 +5.5905604395766495e-16 Pigmentary retinal degeneration 1.8210294591454885e-18 HP:0001146 +6.289380494506863e-16 Decreased circulating low-density lipoprotein levels 2.0486581415331802e-18 HP:0003563 +6.289380494506863e-16 Abnormal full-field electroretinogram 2.0486581415331802e-18 HP:0030466 +8.882660716055608e-16 Macular dystrophy 2.893374826076745e-18 HP:0007754 +1.382679693118587e-15 Hypopigmentation of the fundus 4.503842648594746e-18 HP:0007894 +1.9031265438999284e-15 Undetectable electroretinogram 6.1991092635176825e-18 HP:0000550 +2.1122613289451027e-15 Cystoid macular edema 6.880330061710433e-18 HP:0011505 +2.3418549516569064e-15 Macular edema 7.628192024941062e-18 HP:0040049 +2.593667312051605e-15 Hypolipoproteinemia 8.44842772655246e-18 HP:0010981 +2.593667312051605e-15 Retinal exudate 8.44842772655246e-18 HP:0001147 +2.593667312051605e-15 Acanthocytosis 8.44842772655246e-18 HP:0001927 +2.8695893665276034e-15 Macular thickening 9.347196633640402e-18 HP:0030498 +3.1716514051110723e-15 Aplasia/Hypoplasia of the retina 1.0331112068765708e-17 HP:0008061 +3.50203175980966e-15 Congenital blindness 1.1407269575927232e-17 HP:0007875 +3.50203175980966e-15 Progressive sensorineural hearing impairment 1.1407269575927232e-17 HP:0000408 +4.25725636613049e-15 Keratoconus 1.3867284580229608e-17 HP:0000563 +4.25725636613049e-15 Increased corneal curvature 1.3867284580229608e-17 HP:0100692 +4.6872822616738014e-15 Decreased corneal thickness 1.52680203963316e-17 HP:0100689 +5.6665065757932175e-15 Congenital sensorineural hearing impairment 1.8457676142648916e-17 HP:0008527 +6.22204643614839e-15 Constriction of peripheral visual field 2.0267252235011042e-17 HP:0001133 +6.22204643614839e-15 Abnormality of corneal thickness 2.0267252235011042e-17 HP:0011486 +6.826128614391264e-15 Retinal perforation 2.2234946626681643e-17 HP:0011958 +9.806380222363747e-15 Yellow/white lesions of the retina 3.194260658750406e-17 HP:0030506 +1.0714378391101258e-14 Abnormality of the level of lipoprotein cholesterol 3.49002553456067e-17 HP:0010979 +1.1697348885694248e-14 Macular degeneration 3.810211363418322e-17 HP:0000608 +1.2760744238882322e-14 Hyperinsulinemia 4.156594214619649e-17 HP:0000842 +1.3910360837022003e-14 Cone/cone-rod dystrophy 4.531062161896418e-17 HP:0000548 +1.5152357340328436e-14 Abnormal circulating insulin level 4.9356212834946045e-17 HP:0040215 +1.5152357340328436e-14 Abnormal insulin level 4.9356212834946045e-17 HP:0040214 +1.9500056883908283e-14 Progressive hearing impairment 6.351810059904978e-17 HP:0001730 +2.4939874038128746e-14 Nephronophthisis 8.123737471703174e-17 HP:0000090 +2.7035661772422384e-14 Atypical scarring of skin 8.80640448613107e-17 HP:0000987 +4.008932828040028e-14 Retinal atrophy 1.3058413120651556e-16 HP:0001105 +1.5770726338521152e-13 Abnormality of the renal medulla 5.137044409941743e-16 HP:0100957 +5.259073285790678e-13 Chorioretinal abnormality 1.7130531875539669e-15 HP:0000532 +6.659349463318531e-13 Poikilocytosis 2.1691692062926814e-15 HP:0004447 +6.659349463318531e-13 Nyctalopia 2.1691692062926814e-15 HP:0000662 +7.058112904256892e-13 Progressive visual loss 2.299059577933841e-15 HP:0000529 +7.478238672358695e-13 Type II diabetes mellitus 2.4359083623318224e-15 HP:0005978 +1.050722902848435e-12 Abnormality of the choroid 3.4225501721447396e-15 HP:0000610 +1.050722902848435e-12 Abnormal electroretinogram 3.4225501721447396e-15 HP:0000512 +1.050722902848435e-12 Abnormality of the retinal vasculature 3.4225501721447396e-15 HP:0008046 +1.1738758145094465e-12 Aplasia/Hypoplasia affecting the fundus 3.823699721529142e-15 HP:0008057 +1.2401964820000423e-12 Retinoblastoma 4.039727954397532e-15 HP:0009919 +1.2401964820000423e-12 Retinal neoplasm 4.039727954397532e-15 HP:0012777 +1.8071448747244773e-12 Rod-cone dystrophy 5.8864653899820104e-15 HP:0000510 +2.4683037784772113e-12 Neurodegeneration 8.040077454323164e-15 HP:0002180 +4.478830903968583e-12 Visual field defect 1.4589025745826002e-14 HP:0001123 +6.241419062480174e-12 Photophobia 2.0330355252378417e-14 HP:0000613 +8.224646178578066e-12 Neoplasm of the eye 2.679037843185038e-14 HP:0100012 +9.414914677027705e-12 Abnormal visual electrophysiology 3.0667474518005555e-14 HP:0030453 +1.1746775963207132e-11 Abnormality of cholesterol metabolism 3.8263113886668185e-14 HP:0003107 +1.1746775963207132e-11 Retinal degeneration 3.8263113886668185e-14 HP:0000546 +1.2271185604454866e-11 Abnormality of the curvature of the cornea 3.99712886138595e-14 HP:0100691 +1.2816571631169346e-11 Gliosis 4.174779032954184e-14 HP:0002171 +1.588495014454129e-11 Conductive hearing impairment 5.174250861414101e-14 HP:0000405 +1.588495014454129e-11 Abnormal macular morphology 5.174250861414101e-14 HP:0001103 +1.802887603054271e-11 Blindness 5.872598055551371e-14 HP:0000618 +2.5076918624406142e-11 Functional abnormality of the middle ear 8.168377402086691e-14 HP:0011452 +3.732511675833473e-11 Ophthalmoplegia 1.2158018488056917e-13 HP:0000602 +4.192831051586348e-11 Embryonal neoplasm 1.3657430135460415e-13 HP:0002898 +7.091426267827702e-11 Retinopathy 2.3099108364259617e-13 HP:0000488 +7.355048062205055e-11 Ophthalmoparesis 2.3957811277540893e-13 HP:0000597 +8.810257081441287e-11 Pigmentary retinopathy 2.869790580274035e-13 HP:0000580 +8.810257081441287e-11 Polydactyly 2.869790580274035e-13 HP:0010442 +1.388190595549975e-10 Abnormality of the vasculature of the eye 4.5217934708468243e-13 HP:0008047 +1.388190595549975e-10 Microphthalmia 4.5217934708468243e-13 HP:0000568 +1.700756278473561e-10 Upper limb undergrowth 5.539922731184238e-13 HP:0009824 +2.075293589422645e-10 Retinal dystrophy 6.759913972060733e-13 HP:0000556 +2.3646302288247017e-10 Abnormality of globe size 7.702378595520201e-13 HP:0100887 +5.981776395427826e-10 Abnormality of the glial cells 1.9484613665888684e-12 HP:0100705 +6.727486481875538e-10 Hypogonadism 2.1913636748780254e-12 HP:0000135 +6.926524543477764e-10 Abnormality of circulating hormone level 2.2561969196995973e-12 HP:0003117 +7.776774899705444e-10 Hypoplasia of penis 2.5331514331288093e-12 HP:0008736 +8.474892365194142e-10 Neuroepithelial neoplasm 2.760551259020893e-12 HP:0030063 +9.228914326532511e-10 Nervous tissue neoplasm 3.0061610184144985e-12 HP:0030060 +9.228914326532511e-10 Neuroectodermal neoplasm 3.0061610184144985e-12 HP:0030061 +1.1543718428324624e-09 Glaucoma 3.760168869161115e-12 HP:0000501 +1.2198554340554865e-09 Wide nasal bridge 3.973470469236112e-12 HP:0000431 +1.3984366259310385e-09 Visual loss 4.555168162641819e-12 HP:0000572 +1.6879988822761898e-09 Abnormality of lipid metabolism 5.498367694710716e-12 HP:0003119 +1.7334975044422942e-09 Metrorrhagia 5.646571675707799e-12 HP:0100608 +1.9779810642388804e-09 Scarring 6.4429350626673635e-12 HP:0100699 +2.0304474054716845e-09 Abnormality of retinal pigmentation 6.613835196976171e-12 HP:0007703 +2.628331383770522e-09 Limb undergrowth 8.561340012281831e-12 HP:0009826 +3.7316154453488525e-09 Obesity 1.2155099170517434e-11 HP:0001513 +3.919340997996726e-09 Hypoplastic male external genitalia 1.2766583055363929e-11 HP:0000050 +6.321359545900789e-09 Abnormality of the middle ear 2.0590747706517226e-11 HP:0000370 +7.098972376183352e-09 Anteverted nares 2.3123688521769875e-11 HP:0000463 +7.433390275858353e-09 External genital hypoplasia 2.4212997641232422e-11 HP:0003241 +7.433390275858353e-09 Aplasia/Hypoplasia affecting the eye 2.4212997641232422e-11 HP:0008056 +8.145089250918333e-09 Increased body weight 2.6531235345010855e-11 HP:0004324 +9.75530240286726e-09 Abnormality of the nares 3.1776229325300524e-11 HP:0005288 +1.6103309897109546e-08 Optic atrophy 5.2453778166480606e-11 HP:0000648 +1.9060793562044177e-08 Diabetes mellitus 6.208727544639797e-11 HP:0000819 +2.987920944013083e-08 Abnormality of the nasal alae 9.732641511443266e-11 HP:0000429 +5.248020807817572e-08 Amyotrophic lateral sclerosis 1.7094530318624013e-10 HP:0007354 +5.658236502116998e-08 Abnormality of the menstrual cycle 1.8430737791912046e-10 HP:0000140 +5.984595800281632e-08 Motor neuron atrophy 1.9493797395054177e-10 HP:0007373 +6.327799953364802e-08 Menstrual irregularities 2.0611726232458636e-10 HP:0000858 +7.198491237736304e-08 Abnormal motor neuron morphology 2.3447854194580793e-10 HP:0002450 +7.466319549291483e-08 Abnormal neuron morphology 2.4320259118213297e-10 HP:0012757 +7.884897789335068e-08 Abnormality of the optic disc 2.568370615418589e-10 HP:0012795 +1.228397756115146e-07 Aplasia/hypoplasia involving bones of the upper limbs 4.0012956225249056e-10 HP:0006496 +1.483975077425636e-07 Hyperreflexia 4.833795040474385e-10 HP:0001347 +1.5352755857272025e-07 Abnormality of the uvea 5.00089767337851e-10 HP:0000553 +1.5352755857272025e-07 Abnormality of the penis 5.00089767337851e-10 HP:0000036 +1.6426921240078137e-07 Neoplasm by histology 5.350788677549882e-10 HP:0011792 +2.25119429172574e-07 Abnormality of reproductive system physiology 7.332880429074072e-10 HP:0000080 +3.0555431964818125e-07 Abnormality of the cornea 9.952909434794178e-10 HP:0000481 +3.2038455159280755e-07 Visual impairment 1.0435978879244546e-09 HP:0000505 +3.9242331225647995e-07 Aplasia/hypoplasia involving bones of the extremities 1.278251831454332e-09 HP:0045060 +4.1098926074512013e-07 Peripheral neuropathy 1.3387272336974598e-09 HP:0009830 +4.238018850191182e-07 Cataract 1.3804621661860528e-09 HP:0000518 +4.78725935631177e-07 Abnormality of the optic nerve 1.5593678685054627e-09 HP:0000587 +4.78725935631177e-07 Abnormality of skin pigmentation 1.5593678685054627e-09 HP:0001000 +5.319518140608289e-07 Sensorineural hearing impairment 1.7327420653447194e-09 HP:0000407 +5.563495931254543e-07 Abnormality of the external nose 1.812213658389102e-09 HP:0010938 +5.647031906221201e-07 Abnormality of the lens 1.8394240736876876e-09 HP:0000517 +5.904457001011749e-07 Aplasia/hypoplasia of the extremities 1.923275896095032e-09 HP:0009815 +7.464471377270939e-07 Abnormal glucose homeostasis 2.4314239013911853e-09 HP:0011014 +8.375817156963961e-07 Edema 2.7282792042227886e-09 HP:0000969 +9.123756391914161e-07 Abnormality of the nasal bridge 2.9719076195160134e-09 HP:0000422 +1.0652736599597843e-06 Abnormal nasal morphology 3.469946775113304e-09 HP:0005105 +1.4816609184875052e-06 Functional abnormality of the inner ear 4.826257063477215e-09 HP:0011389 +1.5018195704310955e-06 Localized skin lesion 4.891920424856989e-09 HP:0011355 +1.8844948396305382e-06 Abnormality of the inner ear 6.1384196730636424e-09 HP:0000359 +1.9348465481391357e-06 Abnormality of carbohydrate metabolism/homeostasis 6.302431752896208e-09 HP:0011013 +2.066065317689044e-06 Puberty and gonadal disorders 6.729854455013172e-09 HP:0008373 +2.1767481626287405e-06 Abnormality of female 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Abnormality of coordination 5.17551780966582e-08 HP:0011443 +1.729796819095009e-05 Atrophy/Degeneration affecting the central nervous system 5.6345173260423745e-08 HP:0007367 +1.7854728108751475e-05 Abnormal external genitalia 5.8158723481275166e-08 HP:0000811 +2.2456195406528198e-05 Abnormality of vision 7.314721630790944e-08 HP:0000504 +2.5135309938722395e-05 Abnormal peripheral nervous system morphology 8.187397374176675e-08 HP:0000759 +3.23236138618761e-05 Abnormality of the male genitalia 1.0528864450122508e-07 HP:0010461 +3.2971690409923215e-05 Aplasia/hypoplasia involving the skeleton 1.0739964302906584e-07 HP:0009115 +3.464335079920156e-05 Abnormality of digit 1.1284479087687803e-07 HP:0011297 +6.881496226463522e-05 Short stature 2.2415297154604308e-07 HP:0004322 +7.611517703089195e-05 Muscle weakness 2.479321727390617e-07 HP:0001324 +8.259858594747801e-05 Abnormality of the anterior segment of the globe 2.690507685585603e-07 HP:0004328 +0.0001138007728773714 Upper motor neuron dysfunction 3.7068655660381564e-07 HP:0002493 +0.00011888491829110587 Neoplasm by anatomical site 3.8724729085050773e-07 HP:0011793 +0.00012097516293517722 Abnormality of the fundus 3.9405590532631017e-07 HP:0001098 +0.00012417258265780599 Abnormality of the posterior segment of the globe 4.044709532827557e-07 HP:0004329 +0.00015262060533597588 Hearing impairment 4.971355222670225e-07 HP:0000365 +0.00016059211883394877 Neoplasm 5.231013642799634e-07 HP:0002664 +0.00017325315786960351 Abnormality of the cerebellum 5.643425337772102e-07 HP:0001317 +0.00017618587241738414 Abnormality of the metencephalon 5.738953498937594e-07 HP:0011283 +0.00017618587241738414 Abnormality of hindbrain morphology 5.738953498937594e-07 HP:0011282 +0.00017916319029463729 Hearing abnormality 5.835934537284602e-07 HP:0000364 +0.00018218571347576067 Abnormality of body height 5.934388061099696e-07 HP:0000002 +0.00022960204326684703 Abnormality of the kidney 7.478893917486874e-07 HP:0000077 +0.0002391515950095283 Abnormality of limb bone morphology 7.789954234838055e-07 HP:0002813 +0.00024905713587446506 Abnormal reproductive system morphology 8.112610289070523e-07 HP:0012243 +0.00025312164937551113 Abnormality of eye movement 8.245004865651829e-07 HP:0000496 +0.0002699835132109949 Abnormality of the upper urinary tract 8.794251244657815e-07 HP:0010935 +0.0002721607996075025 Abnormality of the endocrine system 8.865172625651547e-07 HP:0000818 +0.000350750188320614 Abnormality of the nose 1.142508756744671e-06 HP:0000366 +0.0006114146839577272 Abnormality of connective tissue 1.9915787751066032e-06 HP:0003549 +0.0006205299480287158 Abnormality of the genital system 2.0212701890186184e-06 HP:0000078 +0.0008069550626492879 Abnormality of the upper limb 2.628518119378788e-06 HP:0002817 +0.0008921120254797562 Abnormality of limb bone 2.905902363126242e-06 HP:0040068 +0.0009992733379070886 Abnormality of the orbital region 3.254962012726673e-06 HP:0000315 +0.001310620639930439 Intellectual disability 4.269122605636609e-06 HP:0001249 +0.0013287166742452364 Global developmental delay 4.32806734281836e-06 HP:0001263 +0.001393837501355185 Seizures 4.540187300831222e-06 HP:0001250 +0.00144209606825589 Abnormal appendicular skeleton morphology 4.697381329823746e-06 HP:0011844 +0.0015535980630793837 Behavioral abnormality 5.060580010030566e-06 HP:0000708 +0.0015853247689068327 Abnormality of the vasculature 5.163924328686751e-06 HP:0002597 +0.0016953367076601303 Abnormality of body weight 5.522269406059057e-06 HP:0004323 +0.001848609048286737 Abnormality of blood and blood-forming tissues 6.021527844582205e-06 HP:0001871 +0.0020950978592187467 Growth delay 6.8244229941978716e-06 HP:0001510 +0.0030266555423608833 Bone spicule pigmentation of the retina 9.858812841566396e-06 HP:0007737 +0.004174007346542459 Abnormality of the urinary system 1.3596115135317457e-05 HP:0000079 +0.005126939374012541 Abnormality of central motor function 1.6700128254112513e-05 HP:0011442 +0.00540995350440465 Neurodevelopmental delay 1.76219983856829e-05 HP:0012758 +0.00608983167308619 Abnormality of skin morphology 1.9836585254352408e-05 HP:0011121 +0.006688071979710432 Abnormality of the ear 2.178525074824245e-05 HP:0000598 +0.012588335067972373 Abnormality of limbs 4.100434875561034e-05 HP:0040064 +0.013734914174553314 Abnormality of the skin 4.473913411906617e-05 HP:0000951 +0.024146525032660786 Abnormal eye physiology 7.86531760021524e-05 HP:0012373 +0.03252935640175157 Abnormality of the globe 0.00010595881564088459 HP:0012374 +0.03334787037817537 Abnormal eye morphology 0.00010862498494519663 HP:0012372 +0.034524935406332564 Abnormality of the genitourinary system 0.00011245907298479663 HP:0000119 +0.039139246044852014 Undetectable light- and dark-adapted electroretinogram 0.00012748940079756357 HP:0007688 +0.039139246044852014 Peripheral visual field loss 0.00012748940079756357 HP:0007994 +0.043868013802690724 Neurodevelopmental abnormality 0.0001428925531032271 HP:0012759 +0.04946207981041838 Abnormality of muscle physiology 0.0001611142664834475 HP:0011804
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