view test-data/bioentityset-overrepresentation.json @ 4:49b46f044d48 draft

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{"results": [{"p": 6.830958069760975e-17, "n": "Peripheral retinal degeneration", "p_uncorrected": 2.2250677751664415e-19, "c": "HP:0007769"}, {"p": 6.830958069760975e-17, "n": "Hypoplasia of the retina", "p_uncorrected": 2.2250677751664415e-19, "c": "HP:0007770"}, {"p": 7.89829526810427e-17, "n": "Retinal hole", "p_uncorrected": 2.572734615017678e-19, "c": "HP:0011530"}, {"p": 7.89829526810427e-17, "n": "Progressive cone degeneration", "p_uncorrected": 2.572734615017678e-19, "c": "HP:0008020"}, {"p": 7.89829526810427e-17, "n": "Progressive night blindness", "p_uncorrected": 2.572734615017678e-19, "c": "HP:0007675"}, {"p": 7.89829526810427e-17, "n": "Subretinal exudate", "p_uncorrected": 2.572734615017678e-19, "c": "HP:0011532"}, {"p": 1.0494238468181382e-16, "n": "Progressive retinal degeneration", "p_uncorrected": 3.418318719277323e-19, "c": "HP:0007893"}, {"p": 1.206054271707303e-16, "n": "Abnormal dark-adapted bright flash electroretinogram", "p_uncorrected": 3.928515543020531e-19, "c": "HP:0030470"}, {"p": 1.206054271707303e-16, "n": "Severe sensorineural hearing impairment", "p_uncorrected": 3.928515543020531e-19, "c": "HP:0008625"}, {"p": 1.206054271707303e-16, "n": "Severe hearing impairment", "p_uncorrected": 3.928515543020531e-19, "c": "HP:0012714"}, {"p": 1.206054271707303e-16, "n": "Electronegative electroretinogram", "p_uncorrected": 3.928515543020531e-19, "c": "HP:0007984"}, {"p": 1.206054271707303e-16, "n": "Age-related macular degeneration", "p_uncorrected": 3.928515543020531e-19, "c": "HP:0007868"}, {"p": 1.206054271707303e-16, "n": "Abnormal dark-adapted electroretinogram", "p_uncorrected": 3.928515543020531e-19, "c": "HP:0030469"}, {"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 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"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", 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{"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"}]}