User:Noa.rappaport/Malacard mappings

I attach MalaCards mapping file, comma separated values. Column names in first row.

It contains MalaCards diseases and the mappings we have to some of the resources wiki currently has in the disease box, using a few sources. Please let me know if there is anything else I can help with.

I will update this file when needed:

maladyId,MalaCards URL suffix: http://www.malacards.org/card/suffix, WIKI URL suffix: http://en.wikipedia.org/wiki/suffix, ICD9CM via DO mapping,	MeSH via DO mapping, SNOMED-CT via DO mapping, ICD10 via MalaCards mapping, MESH via Orphanet mapping, ICD10 via Orphanet mapping, SNOMED-CT via Orphanet mapping

1,childhood_ovarian_embryonal_carcinoma,,,,,,,, 2,primary_ciliary_dyskinesia,primary_ciliary_dyskinesia,,D002925,86204009|9057007,N97,,, 3,dextrocardia,dextrocardia,,D003914,156925007|27637000,,D003914,Q24.0,27637000|74034002 4,pineal_region_meningioma,,,,,,,, 5,periocular_meningioma,,,,,,,, 6,trachea_adenoid_cystic_carcinoma,,,,254619006,,,, 7,unilateral_retinoblastoma,,,,,,,, 8,gallbladder_papillomatosis,,,,,,,, 9,bilateral_retinoblastoma,,,,,,,, 10,proctitis,proctitis,,D011349,197229007|266534007|155806004|3951002,,,, 11,inhalation_anthrax,,,,,A22.1,,, 12,acute_myeloid_leukemia,acute_myeloid_leukemia,205.0,D015470,277600006|154591002|413443009|17788007|91861009,,D015470,C92.0,103691009|17788007|359648001|413443009|91861009 13,acute_laryngopharyngitis,,465.0,,55355000,J06.0,,, 14,beta_thalassemia,beta-thalassemia,,D017086,65959000|191190000|79592006,,D017086,D56.1,65959000|79592006|191189009 15,serous_conjunctivitis_except_viral,,372.01,,9824006,,,, 16,digeorge_syndrome,digeorge_syndrome,279.11,D004062,77128003|190991007,D82.1|Q38.7,,D82.1, 17,histoplasmosis_meningitis,,115.91,,187057005,,,, 18,lower_gum_cancer,,143.1,,93873003|363384006,C03.1,,, 19,asynchronous_multifocal_osteogenic_sarcoma,,,,,,,, 20,osteoblastoma,osteoblastoma,,,,,D018215,,55333008 21,synchronous_multifocal_osteogenic_sarcoma,,,,,,,, 22,esophagus_squamous_cell_papilloma,,,,,,,, 23,acquired_thrombocytopenia,,287.4,,191325008|74576004|154826009|267537007,D69.5,,, 24,qualitative_platelet_defect,,287.1,,191311007|191309003|267532001,D69.1,,, 25,necrobiosis_lipoidica,necrobiosis_lipoidica,,D009335,201319007|201317009|9418005|156394009,L92.1,,, 26,cellulitis,cellulitis,,D002481,74276003|156313004|267833003|156317003|385627004|128045006|62837005|200693005|191132005,L03|L03.9,,, 27,septicemic_plague,septicemic_plague,020.2,D010930,9012003,,,, 28,prolapse_of_lacrimal_gland,,375.16,,84777002,,,, 29,chronic_salpingo_oophoritis,,614.1,,198140009|155970008|198146003|266649009|198142001,N70.1,,, 30,prostatic_cyst,,600.3,,409658007,,,, 31,extraosseous_ewings_sarcoma_primitive_neuroepithelial_tumor,,,,,,,, 32,nonparalytic_poliomyelitis,,045.20|045.2,,14535005,A80.4,,, 33,gilles_de_la_tourette_syndrome,,307.23,D005879,192624004|268778009|154936002|5158005|39098006,,,, 34,alcoholic_pancreatitis,,,D019512,,,,, 35,alcohol_abuse,alcohol_abuse,305.0|305.00,D000437,15167005|304606004,,,, 36,psychologic_dyspareunia,,302.76,,192470002|268762007|154905005|41021005,F52.6|N94.1,,, 37,pulpitis,pulpitis,522.0,D011671,196331007|155638006|32620007,K04.0,,, 38,spastic_ectropion,,374.13,,80846000,,,, 39,henoch_schoenlein_purpura,henoch-schonlein_purpura,287.0,D011695,367437009|31912009|267565009|191305009|191306005|154823001|246074004|191308006|21148002,D69.0,,D69.0, 40,normal_pressure_hydrocephalus,normal_pressure_hydrocephalus,,D006850,69663004|30753002,G91.2,,G91.2, 41,limited_scleroderma,limited_systemic_scleroderma,,D045745,299276009|128459005|298285004,,D017675,L94.0|M34.0|M34.1,299276009|31848007 42,pulmonary_systemic_sclerosis,,517.2,,196133001,,,, 43,camurati_engelmann_disease,,,D003966,34643004|205505000|240174009,Q78.3,D003966,Q78.3, 44,essential_tremor,essential_tremor,,D020329,192839001|632009,G25.0,,, 45,fundus_albipunctatus,,362.74,,68222009,,,H35.5, 46,rickettsialpox,rickettsialpox,083.2,D012288,75096007,A79.1,,A79.1,75096007 47,langer_giedion_syndrome,,,D015826,239017000|41069008,,,, 48,exanthema_subitum,exanthema_subitum,,D005077,,B08.2,,, 49,rheumatic_fever,rheumatic_fever,390-392.99,D012213,155274009|58718002|274095001|195528001|26424001|81077008|155265007|155264006|24363009|266276003|194718003,I00-I02,D012213,I00|I01,26424001|58718002 50,thrombocytopenia_due_to_platelet_alloimmunization,,,,2897005,,,D69.3, 51,acute_chest_syndrome,acute_chest_syndrome,517.3,D056586,372146004,,,, 52,hypohidrosis,hypohidrosis,,D007007,201189007|45004005,,,, 53,ruptured_thoracoabdominal_aortic_aneurysm,,441.6,,195265003,I71.5|I71.6,,, 54,extracutaneous_mastocytoma,extracutaneous_mastocytoma,,D034801,63175003,,,C96.2,63175003 55,disseminated_chorioretinitis,,363.1|363.10,,193447003|193441002|78769001,,,, 56,adrenal_medulla_carcinoma,,,,371965009|93666006|127023007|363480001,C74.1,,, 57,subacute_bacterial_endocarditis,subacute_bacterial_endocarditis,,D004698,73774007|155334001|194923008|50194006,,,, 58,rubella,rubella,056,D012409,36653000|154343004|266192003,B06|B06.0|B06.8|B06.9,,, 59,granulomatous_endometritis,,,,,,,, 60,pituitary_hypoplasia,,,,,,,, 61,superficial_urinary_bladder_cancer,,,,425231005,,,, 62,non_specific_chronic_endometritis,,,,,,,, 63,lymphohistiocytoid_mesothelioma,,,,,,,, 64,squamous_cell_papilloma_of_skin,,,,254661000,,,, 65,pulmonary_vein_leiomyosarcoma,,,,,,,, 66,pulmonary_artery_leiomyosarcoma,,,,,,,, 67,gynecomastia,gynecomastia,,D006177,266646002|155963008|198112004|4754008,,,, 68,eye_carcinoma_in_situ,,234.0,,92590009,D09.2,,, 69,choroid_plexus_meningioma,,,,253082002,,,, 70,secretory_meningioma,,,D008579,19453003|253081009,,,, 71,benign_meningioma,,,D008579,,,,, 72,familial_meningioma,,,C537443,,,,, 73,rectum_sarcomatoid_carcinoma,,,,,,,, 74,thymic_dysplasia,,,,,,,, 75,vulvar_keratinizing_squamous_cell_carcinoma,,,,,,,, 76,microcystic_meningioma,,,D008579,253084001|19453003,,,, 77,crohns_disease,crohns_disease,555.0,D003424|C536215,196980005|155761004|56689002,K50|K50.9,,, 78,megakaryocytic_leukemia,,207.2,D007947,190067001|188754005|52220008|190065009|277602003|94149003,,,C94.2, 79,kimura_disease,kimura_disease,,D000796,399894006|254791004|69484003,,D000796,D21|I89.8|L92.8,399894006 80,lymphoplasmacyte_rich_meningioma,,,,253083007|19453003,,,, 81,pediatric_meningioma,,,,,,,, 82,solid_pattern_testicular_yolk_sac_tumor,,,,,,,, 83,abnormal_retinal_correspondence,,368.34,,79195003,,,, 84,nephrogenic_adenoma,nephrogenic_adenoma,,,,,,, 85,nephrogenic_adenoma_of_urinary_bladder,,,,,,,, 86,contagious_pustular_dermatitis,contagious_pustular_dermatitis,051.2,D004474,74050005|154344005|266193008,,,, 87,ovarian_stromal_hyperthecosis,,,,,,,, 88,esophageal_tuberculosis,,017.8,,15284007,,,, 89,paracoccidioidomycosis,paracoccidioidomycosis,116.1,D010229,36866003|187074005|187486002|59925007,B41|B41.9,D010229,B41,59925007 90,tooth_ankylosis,,521.6,D020254,14901003,K03.5,,, 91,locked_in_syndrome,locked-in_syndrome,344.81,D011782,38023001,,,G83.8,38023001 92,axonal_neuropathy,,,,60703000,,,, 93,acoustic_neuroma,acoustic_neuroma,,D009464,985004|269643009|126949007|389982003|154621002,,,, 94,breast_adenomyoepithelial_adenosis,,,,,,,, 95,jewett_marshall_bladder_cancer,,,,,,,, 96,pediatric_ovarian_dysgerminoma,,,,,,,, 97,blastomycosis,blastomycosis,116.0|116,D001759,69996000|187075006|191950004|154402000|187071002|187064007|10673008|266217003|187484004,B40|B40.9,,, 98,iris_spindle_cell_melanoma,,,,,,,, 99,cranial_pseudosarcomatous_fasciitis,,,,,,,, 100,nephrocalcinosis,nephrocalcinosis,,D009397,48638002|190863003|267505006|154752005,,,, 101,hypercalcemia,hypercalcemia,275.42,D006934,66931009|267505006|154752005,,,, 102,vestibular_neuronitis,vestibular_neuronitis,386.12,D020338,155236001|43680000|34243007|186738001|232293008|123053001,H81.2,,, 103,pseudobulbar_palsy,pseudobulbar_palsy,335.23,D020828,7379000,,,, 104,mixed_receptive_expressive_language_disorder,mixed_receptive-expressive_language_disorder,315.32,,25766007,,,, 105,ovarian_serous_cystadenofibroma,,,,,,,, 106,prostate_lymphoma,,,,,,,, 107,mucinous_adenocarcinoma,mucinous_adenocarcinoma,,D002288,900006|72495009,,,, 108,monocular_esotropia,,378.01,D004948,5455000|194075001,,,, 109,phlyctenulosis,phlyctenulosis,370.31,,67895005|193773009,,,, 110,seminal_vesicle_acute_gonorrhea,,098.14,,301990003,,,, 111,prostate_malignant_phyllodes_tumor,,,C549759,,,,, 112,cauda_equina_syndrome,cauda_equina_syndrome,344.6,D011128,155032006|192973005|89356000|192972000|192970008,G83.4,,, 113,colon_signet_ring_adenocarcinoma,,,,,,,, 114,submucosal_invasive_colon_adenocarcinoma,,,,,,,, 115,cecum_adenocarcinoma,,,,413446001,,,, 116,prostate_squamous_cell_carcinoma,,,,399590005,,,, 117,listeria_meningitis,,,D008584,31568009|230151007,,,, 118,listeriosis,listeriosis,027.0,D008088,187320005|186320001|186315001|406591006|4241002,A32|A32.9,D008088,A32,4241002 119,streptococcal_meningitis,,320.2,,4510004,G00.2,,, 120,neurocirculatory_asthenia,da_costas_syndrome,306.2,D009449,154922007|191961007|72994002|191960008|191962000|46219009|192434000|191963005,K59.9,,, 121,wisslers_syndrome,,,D014924,68190001,,,, 122,churg_strauss_syndrome,churg-strauss_syndrome,,D015267|C531653,195362002|82275008,,C531653|D015267,M30.1,82275008 123,balkan_nephropathy,balkan_nephropathy,,D001449|C535987,197748005|26121002,N15.0,,, 124,human_monocytic_ehrlichiosis,human_monocytic_ehrlichiosis,,,,,,, 125,pediatric_angiosarcoma,,,,,,,, 126,human_granulocytic_anaplasmosis,human_granulocytic_anaplasmosis,,,,,,, 127,frey_syndrome,,,D013547,56046002|238758008,,,, 128,central_nervous_system_angiosarcoma,,,,,,,, 129,paratyphoid_fever,paratyphoid_fever,002.9,D010284,51254007|186092009|187268002|71085009|85904008|266174006|154270009|76623002,A01.1|A01.2|A01.3|A01.4,,, 130,ring_staphyloma,,379.15,,5299007,,,, 131,hypokalemia,hypokalemia,,,,,,, 132,orofaciodigital_syndrome,orofaciodigital_syndrome,,D009958,,,,, 133,chikungunya,chikungunya,,,,A92.0,,A92.0, 134,bladder_lateral_wall_cancer,,188.2,,93863000|188241004,C67.2,,, 135,thyroid_angiosarcoma,,,,,,,, 136,riley_day_syndrome,,,D004402,29159009|204087006,,D004402,G90.1,29159009 137,skin_angiosarcoma,,,,254794007,,,, 138,aorta_angiosarcoma,,,,,,,, 139,conventional_angiosarcoma,,,,,,,, 140,breast_angiosarcoma,,,C536368,,,,, 141,gallbladder_angiosarcoma,,,,,,,, 142,flinders_island_spotted_fever,,,,,,,, 143,far_eastern_spotted_fever,,,,,,,, 144,strawberry_gallbladder,strawberry_gallbladder,575.6,,61565001,K82.4,,, 145,israeli_tick_typhus,,,,,,,, 146,louping_ill,louping_ill,063.1,D008146,59350003,,,, 147,superior_vena_cava_angiosarcoma,,,,,,,, 148,prostate_angiosarcoma,,,,,,,, 149,cervical_endometrial_stromal_sarcoma,,,,,,,, 150,mature_cataract,,366.17,,849000|193590000,,,, 151,anodontia,anodontia,520.0,D000848,196265005|26624006|196269004|196266006|234951001|16958000,K00.0,D000848,K00.0,26624006 152,ovarian_angiosarcoma,,,,,,,, 153,dental_fluorosis,dental_fluorosis,520.3,D009050,30265004,K00.3,,, 154,rickettsia_parkeri_spotted_fever,,,,,,,, 155,japanese_spotted_fever,japanese_spotted_fever,,,,,,, 156,mediastinum_angiosarcoma,,,,,,,, 157,rocky_mountain_spotted_fever,rocky_mountain_spotted_fever,,,,,D012373,A77.0,186772009 158,african_tick_bite_fever,african_tick_bite_fever,,,,,,, 159,mucoepidermoid_carcinoma,mucoepidermoid_carcinoma,,D018277,4079000,,,, 160,premature_ejaculation,premature_ejaculation,302.75,,44001008|268762007|154905005|192468006|123302009,F52.4,,, 161,ovary_neuroendocrine_neoplasm,,,,,,,, 162,female_reproductive_endometrioid_cancer,,,,253013001,,,, 163,hallermann_streiff_syndrome,,,C537273|D006210,205417000|7903009,,,Q87.0, 164,breast_neuroendocrine_neoplasm,,,,,,,, 165,exhibitionism,exhibitionism,302.4,D005084,268763002|191781000|154907002|192514003|58349009,F65.2,,, 166,indian_tick_typhus,,,,,,,A77.1, 167,histoplasmosis_pericarditis,,115.93,,187059008,,,, 168,browns_tendon_sheath_syndrome,,378.61,D015835,35929003,,,, 169,astrakhan_spotted_fever,,,,,,,, 170,superior_vena_cava_leiomyosarcoma,,,,,,,, 171,left_bundle_branch_hemiblock,,426.2,,195045000|266245009|4973001|195044001,,,, 172,basophil_adenoma,,,D000237,9436005,,,, 173,cerebral_primitive_neuroectodermal_tumor,,,D018242,,,,, 174,neurofibroma_of_spinal_cord,,,,,,,, 175,pestis_minor,,,,,,,, 176,pediatric_mesenchymal_chondrosarcoma,,,,,,,, 177,li_fraumeni_syndrome,li-fraumeni_syndrome,,D016864,428850001,N60-N64|N64|N64.8,D016864,D48.9,428850001 178,dysgraphia,dysgraphia,,D000381,206990000|27206009|158321001,,,, 179,breast_granular_cell_tumor,,,,,,,, 180,nominal_aphasia,nominal_aphasia,,D000849,10325006,,,, 181,lobular_neoplasia,lobular_neoplasia,,,,,,, 182,breast_malignant_phyllodes_tumor,,,,189826001|254844000|134331008|87913009,,,, 183,retrograde_amnesia,retrograde_amnesia,,D000648,206784007|158178004|51921000,R41.2,,, 184,extraskeletal_mesenchymal_chondrosarcoma,,,,404080006,,,, 185,panophthalmitis,panophthalmitis,360.02,D010202,33382000,,,, 186,adiaspiromycosis,,,,,,,, 187,invasive_aspergillosis,,,,,,,, 188,discharging_ear,,388.60|388.6,,162364004|155250006|300132001|194405007|139633004|267676003|65668001|194403000,,,, 189,infarct_of_liver,,573.4,,17890003,K76.3,,, 190,nutmeg_liver,nutmeg_liver,573.0,,34736002,K76.1,,, 191,uterine_inflammatory_disease,,615.9,,28783002|198191007|198197006,G61.9|K75.9|M46.9|N41.9|N71.9,,, 192,adult_mesenchymal_chondrosarcoma,,,,,,,, 193,malignant_renovascular_hypertension,,,,,,,, 194,hairy_cell_leukemia_of_spleen,,202.47,,188651007|93151007,,,, 195,oropharyngeal_anthrax,,,,,,,, 196,subendocardial_infarction_acute_myocardial_infarction,,410.7,,,,,, 197,mumps,mumps,072,D009107,36989005|186652008|154352008|186651001|240526004,B26|B26.8|B26.9,,, 198,anal_gland_neoplasm,anal_gland_neoplasms,,D000694,,,,, 199,thymus_large_cell_carcinoma,,,,,,,, 200,prostatic_acinar_adenocarcinoma,,,,,,,, 201,oral_leukoedema,,,D007967,67795000,,,, 202,ovarian_large_cell_neuroendocrine_carcinoma,,,,,,,, 203,large_cell_carcinoma,large_cell_carcinoma,,D018287,189551005|22687000,,,, 204,acinar_cell_carcinoma,acinar_cell_carcinoma,,D018267,45410002,,,, 205,ludwigs_angina,,,D008158,196538002|196542004|54572003,,,, 206,scurvy,scurvy,,D012614,76169001|154727008|190638001|238129003|267493006,,,, 207,colon_mucinous_adenocarcinoma,,,,,,,, 208,neuroschistosomiasis,neuroschistosomiasis,,D020818,,,,, 209,spinal_cord_lipoma,,,,189017000,,,, 210,beriberi,beriberi,265.0,D001602,35843007|36656008|267491008|190625009|154725000,E51|E51.1|E51.9,,, 211,erysipeloid,erysipeloid,,,,A26|A26.9,,, 212,chest_wall_lipoma,,,,,,,, 213,gallbladder_lipoma,,,,,,,, 214,epiphora_due_to_insufficient_drainage,,375.22,,85042000,,,, 215,external_auditory_meatus_lipoma,,,,188988008,,,, 216,axillary_lipoma,,,,188993006,,,, 217,chondroid_lipoma,chondroid_lipoma,,,128746001|404065000,,,, 218,extrahepatic_bile_duct_lipoma,,,,,,,, 219,lipoma_of_spermatic_cord,,214.4,,93162007,,,, 220,cholelithiasis,cholelithiasis,574.5,D002769,266475002|197397004,,,, 221,pthirus_pubis_infestation,,132.2,,154420009|187210003|243683001|71011005|271545007,B88.8|B88.9,,, 222,diabetic_autonomic_neuropathy,,,D003929,50620007,,,, 223,mitral_valve_insufficiency,mitral_valve_insufficiency,,D008944,59464004|194736003|48724000|194977007,,,, 224,clonorchiasis,clonorchiasis,121.1,D003003,11938002,B66.1,,, 225,opisthorchiasis,opisthorchiasis,121.0,D009889,187124006|1059007,B66.0,,, 226,rumination_disorder,rumination_disorder,307.53,D019959,37941009|192014006,,,, 227,addisons_disease,,,D000224,154707007|363732003|111562000|267483004|367376006|373662000|68588005,,D000224,E27.1,363732003|76715008 228,plantar_wart,plantar_wart,078.12,,154363006|63440008,,,, 229,chancroid,chancroid,099.0,D002602,154391003|87429008|266143009|186945008|266213004,A57,,, 230,fissured_tongue,fissured_tongue,529.5,D014063,204627005|52368004,K14.5,,, 231,hepatic_vein_thrombosis,hepatic_vein_thrombosis,,D006502,38739001|195436007,I82.0|K76.5,D006502|D006504,I82.0|K76.5,82385007|65617004 232,hypertensive_heart_disease,hypertensive_heart_disease,402|402.9,,155297007|194769003|64715009|194772005,I11|I11.0|I11.9,,, 233,epidermodysplasia_verruciformis,epidermodysplasia_verruciformis,,D004819,19138001,,D004819,B07,19138001 234,localized_anterior_staphyloma,,379.14,,21946002,,,, 235,laryngostenosis,,478.74,D007829,75547007|195864007,J38.6,,, 236,equatorial_staphyloma,,379.13,,82146006,,,, 237,granulomatous_orchitis,,,,50390006,,,, 238,benign_hypertensive_renal_disease,,403.1|403.10,,193003,,,, 239,hypermobility_syndrome,hypermobility,728.5,,156723005|85551004,M35.7,,, 240,aortic_atherosclerosis,,440.0,,81817003|195252007|155415000,I70.0,,, 241,staphyloma_posticum,,379.12,,87819007,,,, 242,acute_tympanitis,,384.00,,297009|194313009|194312004,H73.0,,, 243,myringitis_bullosa_hemorrhagica,,384.01,,33528003,,,, 244,cystic_lymphangioma,,,D018191,399882002|40225001|423984004,,,D18.1,399882002 245,juvenile_astrocytoma,,,,67859002|253065004|128854008,,,, 246,gliosarcoma,gliosarcoma,,D018316,35262004|189918008|189909006,,,, 247,recurrent_corneal_erosion,recurrent_corneal_erosion,371.42,,155157003|2055003|267732003,,,, 248,female_breast_central_part_cancer,,174.1,,93745008|188151006,,,, 249,brain_glioblastoma_multiforme,,,,276828006,,,, 250,giant_cell_glioblastoma,giant-cell_glioblastoma,,D005909,44529004,,,, 251,adult_glioblastoma_multiforme,,,,,,,, 252,corneal_abscess,,370.55,,64366002,,,, 253,adie_syndrome,adie_syndrome,,D000270,123051004|24225004,,,, 254,fuchs_endothelial_dystrophy,,,D005642,16949007|393581005|193839007,,,, 255,small_cell_sarcoma,,,D018228,73506006,,,, 256,oculomotor_nerve_paralysis,,,D015840,388980004|12900003|30764004,,,, 257,bowmans_membrane_folds_or_rupture,,371.31,,45382000|193820002,,,, 258,hypertensive_retinopathy,hypertensive_retinopathy,362.11,D058437,193356005|6962006|155108001|193358006,,,, 259,acute_allergic_serous_otitis_media,,381.04,,194241005|59275002,,,, 260,retinal_vasculitis,retinal_vasculitis,362.18,D031300,193367006|77628002,,,, 261,stenosis_of_lacrimal_sac,,375.54,,11772001,,,, 262,neurofibromatosis,neurofibromatosis,237.71,C538607|D009456,154642000|92503002|19133005|81669005|92824003,,C538607|D009456|D009464|D016518|D017253,Q85.0,92824003|126949007|92503002|19133005|81669005 263,astroblastoma,astroblastoma,,D018302,48952003,,,, 264,endodermal_sinus_pattern_testicular_yolk_sac_tumor,,,,,,,, 265,vagina_squamous_papilloma,,,,,,,, 266,decubitus_ulcer,decubitus_ulcer,707.0|707.00,D003668,420226006|90144002|418172001|165258002|400192002|28103007|156424003|201248003|399912005|142668003,,,, 267,cheek_mucosa_cancer,,145.0,,93735006|363386008,C06.0,,, 268,squamous_cell_papilloma,squamous_cell_papilloma,,D010212,63451008,,,, 269,vagina_leiomyoma,,,,,,,, 270,stem_cell_leukemia,,,,24072005,,,, 271,genital_herpes,genital_herpes,054.10|054.1,D006558,271463009|186536000|33839006|154333002|186539007,,,, 272,displacement_of_cardia_through_esophageal_hiatus,,750.6,,47028006,Q40.1,,, 273,hypertrophic_pyloric_stenosis,,750.5,D046248,48644003,Q40.0,,, 274,vaginal_mullerian_papilloma,,,,,,,, 275,perineocele,,618.05,,,,,, 276,cardiac_tamponade,cardiac_tamponade,423.3,D002305,194975004|155341007|35304003|266295005,,,, 277,gastric_mucosal_hypertrophy,,535.2,D005758,60002000|413219009|235665008,,,K29.6, 278,esophageal_varix,,456.0,,236067006|17709002|195475003|195643006|195479009|195474004,,,, 279,pleural_tuberculosis,,012.0|012.00,D014396,68706009|186186000|186172004|170713008|186182003|36379004|186183008|171699006,A16.5,,, 280,subacute_myeloid_leukemia,,,,95278004,,D054438,C92.2,128826001|188736006|277589003 281,leukoplakia_of_penis,,607.0,D052798,3323003|266639006|155932009|198019005,N48.0,,, 282,erythema_infectiosum,erythema_infectiosum,057.0,D016731,34730008|154344005|266193008,B08.3,,, 283,carotid_body_cancer,,194.5,,188342008|16822006|93740003,C75.4,,, 284,milkers_nodule,,051.1|051.9,D011213,154344005|27240009|186507000|266193008,,,, 285,pancreatic_invasive_mucinous_cystadenocarcinoma,,,,,,,, 286,pancreatic_non_invasive_mucinous_cystadenocarcinoma,,,,,,,, 287,vascular_dementia,vascular_dementia,,D015161,154850006|268613002|192165000|56267009|429998004|192167008|191462009|192171006,F01,,, 288,pancreatic_mucinous_cystadenoma,pancreatic_mucinous_cystic_neoplasm,,,,,,, 289,branchiootorenal_syndrome,branchiootorenal_syndrome,,D019280,290006|205806009,,D019280,Q87.8,290006 290,propionic_acidemia,propionic_acidemia,,D056693,,,D056693,E71.1,124718009|399149003|69080001 291,adult_central_nervous_system_embryonal_carcinoma,,,,,,,, 292,central_nervous_system_embryonal_carcinoma,,,,,,,, 293,rosacea,rosacea,695.3,D012393,156364003|267849001|200935004|1612004|200930009|398909004,L71|L71.9,,, 294,lower_lip_cancer,,140.1,,187603002|187605009|94136008|363373004,,,, 295,pfeiffer_syndrome,,,D000168,70410008,,,, 296,pediatric_cns_embryonal_cell_carcinoma,,,,,,,, 297,postgerminal_center_chronic_lymphocytic_leukemia_small_lymphocytic_lymphoma,,,,,,,, 298,toxascariasis,,,D017227,,,,, 299,cervical_rib_syndrome,cervical_rib,,D002573,54995001|95409006|413577001,Q76.5,,, 300,lymphoepithelioma_like_acinar_prostate_adenocarcinoma,,,,,,,, 301,idiopathic_cd4_positive_t_lymphocytopenia,,,D018344,,,,, 302,uterine_corpus_apoplectic_leiomyoma,,,,,,,, 303,pityriasis_rosea,pityriasis_rosea,696.3,D017515,77252004|156373006,L42,,, 304,ascaridiasis,,,D001198,76160002|2435008,,,, 305,laryngeal_mucoepidermoid_carcinoma,,,,,,,, 306,mucoepidermoid_thyroid_carcinoma,,,,,,,, 307,mucoepidermoid_esophageal_carcinoma,,,,,,,, 308,bladder_urachal_urothelial_carcinoma,,,,,,,, 309,cutaneous_mucoepidermoid_carcinoma,,,,254713002,,,, 310,lacrimal_gland_mucoepidermoid_carcinoma,,,,,,,, 311,bile_duct_mucoepidermoid_carcinoma,,,,,,,, 312,potters_syndrome,,,,41962002,Q60.6,,, 313,intraneural_perineurioma,,,,128795001,,,, 314,cribriform_variant_testicular_seminoma,,,,,,,, 315,nerve_root_neoplasm,,,,,,,, 316,lung_clear_cell_carcinoma,,,,254630009,,,, 317,epicardium_cancer,,,,93782004|126733004,,,, 318,velocardiofacial_syndrome,velocardiofacial_syndrome,758.32,D004062|C538660,83092002|205642004,,,Q87.8, 319,olecranon_bursitis,olecranon_bursitis,726.33,,425940002|239968000|424548006|63517006|202930004|270542002|156680002|74859007|77299006,M70.2,,, 320,cri_du_chat_syndrome,cri_du_chat,758.31,C538482|D003410,70173007,Q93.4,,, 321,childhood_mediastinal_neurogenic_tumor,,,,,,,, 322,melanotic_neuroectodermal_tumor,melanotic_neuroectodermal_tumor_of_infancy,,D017600,1513001|404042005|253076000,,,, 323,familiar_fallopian_tube_carcinoma,,,,,,,, 324,selective_igd_deficiency_disease,,,,234541006,,,, 325,ulceration_of_vulva,,616.51,,198230004|86533009,N76.6,,, 326,dyscalculia,dyscalculia,,,,F81.2,,, 327,endothrix_infectious_disease,,,,,,,, 328,posterior_uveitis,,,D015866,193451001|43363007|46627006,,,, 329,neonatal_thyrotoxicosis,,775.3,,13795004,,,, 330,duane_retraction_syndrome,duane_syndrome,378.71,D004370|C535604,60318001,,,, 331,acute_kidney_tubular_necrosis,acute_tubular_necrosis,,D007683,23697004|197649009|35455006,N17|N17.0|N17.1|N17.2,,, 332,clear_cell_acanthoma,clear_cell_acanthoma,,D049309,65540008|254670002,,,, 333,idiopathic_juvenile_osteoporosis,juvenile_osteoporosis,733.02,,3345002,M80.5|M81.5,,M81.5, 334,phacolytic_glaucoma,,365.51,,32893002,,,, 335,melanomatosis,,,,,,,, 336,atrophic_nonflaccid_tympanic_membrane,,384.82,,72052003|194323000,,,, 337,intermediate_malignant_teratoma,,,,21912003,,,, 338,lung_combined_large_cell_neuroendocrine_carcinoma,,,,,,,, 339,transitional_meningioma,,,D008579,64967004,,,, 340,meningothelial_meningioma,,,D008579,68944005,,,, 341,noninvasive_malignant_thymoma,,,,,,,, 342,hepatitis_a,hepatitis_a,,D006506,154347003|40468003,B15.0|B15.9,,, 343,hemolytic_uremic_syndrome,hemolytic-uremic_syndrome,283.11,D006463,111407006|123308008,,,, 344,hepatic_coma,hepatic_coma,,D006501,197332007|155820006|72836002,,,, 345,psammomatous_meningioma,,,D008579,38431002,,,, 346,fibrous_meningioma,,,D008579,511008,,,, 347,ossifying_fibroma,ossifying_fibroma,,D018214,80699009|302862001|25603007|302863006|189896007,,,, 348,spinal_meninges_cancer,,192.3,,363476006|94069006|188320007,C70|C70.1,,, 349,breast_giant_fibroadenoma,,,,254846003,,,, 350,hypermobility_of_coccyx,,724.71,,202809009|247367007|22903002,,,, 351,gallbladder_papillary_carcinoma,,,,,,,, 352,gallbladder_pleomorphic_giant_cell_adenocarcinoma,,,,,,,, 353,pleural_lipoma,,,,,,,, 354,horners_syndrome,horners_syndrome,,D006732,12731000|192922002|192915005,G90.2,,, 355,classic_type_lipoma,,,,,,,, 356,kidney_lipoma,,,,,,,, 357,asymptomatic_dengue,,,,,,,, 358,laryngotracheitis,laryngotracheitis,464|464.2,,64375000|155508005|195694004|195703007|195679003|276443001|83271005|155505008|195697006,,,, 359,hemopericardium,hemopericardium,423.0,D010490,23412002|155339006,I31.2,,, 360,adenoiditis,adenoiditis,474.01,,195794009|232420002,,,, 361,papillary_adenoma,papillary_adenoma,,D000236,86143001|189620009,,,, 362,liver_lipoma,,,,,,,, 363,breast_lipoma,,,,276891009,,,, 364,constrictive_pericarditis,constrictive_pericarditis,423.2,D010494,194969008|85598007|155340008,,,, 365,holoprosencephaly,holoprosencephaly,,D016142,44519006|30915001,,,, 366,verrucous_papilloma,,,,48218007,,,, 367,pleomorphic_lipoma,pleomorphic_lipoma,,D008067,189783001|404059000|21396005,,,, 368,fallopian_tube_serous_papilloma,,,,,,,, 369,pontiac_fever,pontiac_fever,,,,,,A48.2,240447002 370,ideomotor_apraxia,ideomotor_apraxia,,D020240,334621009|229706001|39746003|333633007,,,, 371,hydranencephaly,hydranencephaly,,D006832,30023002,,D006832,Q04.3,30023002 372,ollier_disease,ollier_disease,,C538536|D004687,46041001|234135008|205470006,Q78.4,D004687,Q78.4,46041001|268274005 373,podoconiosis,podoconiosis,,,,,,, 374,spindle_cell_lipoma,spindle_cell_lipoma,,,404058008|27313007,,,, 375,endobronchial_lipoma,,,,,,,, 376,diabetic_peripheral_angiopathy,,250.7,,267473003|190361006|190354007|127014009|982001|267383000,,,, 377,osteoporosis,osteoporosis,733.00|733.0,D010024,203428004|156825006|203440004|64859006,,,, 378,esophageal_lipoma,,,,,,,, 379,skin_lipoma,,214.0,,93159009|255187008|188989000,,,, 380,inflammatory_diarrhea,,,,,,,, 381,spinal_cord_oligodendroglioma,,,,254950006,,,, 382,motility_related_diarrhea,,,,,,,, 383,childhood_oligodendroglioma,,,D009837,,,,, 384,adult_oligodendroglioma,,,D009837,,,,, 385,inverted_transitional_papilloma,,,,46580000,,,, 386,brain_oligodendroglioma,,,,254940005,,,, 387,nasal_cavity_inverting_papilloma,,,,,,,, 388,submandibular_adenitis,,,,15170009,,,, 389,acute_diarrhea,,,,,,,, 390,suppurative_lymphadenitis,,,,48573006,,,, 391,postauricular_lymphadenitis,,,,,,,, 392,intestinal_botulism,,,,,,,A05.1, 393,neuroretinitis,,363.05,D012173,410471004|46497009,,,, 394,malignant_hypertensive_renal_disease,,,,65443008,I12|I12.0|I12.9,,, 395,hemophagocytic_lymphohistiocytosis,hemophagocytic_lymphohistiocytosis,288.4,D051359|C537250,127069007|234437005|190958003,D76.1,,, 396,lacrimal_passage_granuloma,,375.81,,194001006|82836006|417563003,,,, 397,dengue_shock_syndrome,dengue_shock_syndrome,,,,,,, 398,incontinentia_pigmenti_achromians,incontinentia_pigmenti_achromians,,D010859,254202001|254816001|48543002|218358001|806001|367520004,,,D22.6|Q87.8, 399,hand_dermatosis,,,D006229,,,,, 400,secretory_diarrhea,,,,,,,, 401,brain_compression,brain_compression,348.4,,193053006|46963008,G93.5,,, 402,common_bile_duct_neoplasm,,,D003138,126857009,,,, 403,epidermolytic_hyperkeratosis,epidermolytic_hyperkeratosis,,C537410|D017488,254167000|20512000|239071005,Q80.3,,Q80.3, 404,pseudotumor_cerebri,pseudotumor_cerebri,348.2,D011559,155052007|68267002|267701004,G93.2,,, 405,osmotic_diarrhea,,,,,,,, 406,malignant_spindle_cell_melanoma,,,,189756002|68827007|403923002,,,, 407,perinatal_jaundice_due_to_hepatocellular_damage,,774.4,,10877007|206467002|206463003,,,, 408,tinea_imbricata,,,,,,,, 409,allergic_cutaneous_vasculitis,,,,,,,, 410,la_crosse_encephalitis,la_crosse_encephalitis,062.5,D004670,417075004|416442006|266103004|186588007|69627004|418531007,A83.5,D004670,A83.5,416442006|417075004|418531007 411,sciatic_neuropathy,sciatic_neuropathy,,D020426,52585001,,,, 412,maxillary_neoplasm,,,D008441,126550004,,,, 413,periapical_granuloma,,,D010484,196344002|81407003,,,, 414,leukemoid_reaction,leukemoid_reaction,288.62,D007955,56478004,,,, 415,osteonecrosis,osteonecrosis,733.42,,43453000|203487006|29281007|62100001|83453001|397758007|34686004|17926002|240196003|156837008,M87|M87.1|M87.2|M87.9|M90.4|M90.5,,, 416,ulnar_neuropathy,ulnar_neuropathies,,D020424,55802003|359837005|395205004|367399005|394515001,,,, 417,meckels_diverticulum_cancer,,152.3,,93890009|187752007,C17.3,,, 418,malignant_neoplasm_of_short_bones_of_lower_limb,,170.8,,94003005|187964009|187979002|269468002,C40.3,,, 419,ileal_neoplasm,ileal_neoplasms,,D007078,126835002|254576003,,,, 420,patent_foramen_ovale,patent_foramen_ovale,,D054092,78902000|268316001|204315000|204317008|156912004|204318003,,D054092,Q21.1,204317008 421,thymus_lymphoma,,,,,,,, 422,argentine_hemorrhagic_fever,argentine_hemorrhagic_fever,,,,A96.0,,A96.0, 423,venezuelan_hemorrhagic_fever,venezuelan_hemorrhagic_fever,,,,,,A96.8, 424,bolivian_hemorrhagic_fever,bolivian_hemorrhagic_fever,,,,A96.1,,A96.1, 425,extrahepatic_cholestasis,,,D001651,8262006|20719006,,,, 426,porphyria_cutanea_tarda,porphyria_cutanea_tarda,,D017119,61860000,E80.1,D017121|D017119,E80.2|E80.1,111386004|61860000 427,thalamic_disease,thalamic_diseases,,D013786,,,,, 428,multiple_chemical_sensitivity,multiple_chemical_sensitivity,,D018777,,,,, 429,scalp_dermatosis,,,D012536,402694007,,,, 430,facial_dermatosis,,,D005148,,,,, 431,indolent_systemic_mastocytosis,,,D034721,397356009|70910003,,,D47.0,397356009|70910003 432,asthenopia,asthenopia,,D001248,193645002|46640001|70323002,,,, 433,congenital_epulis,congenital_epulis,,D005887,360525006|25511009,,,, 434,uterine_corpus_adenocarcinofibroma,,,,,,,, 435,scleredema_adultorum,,,D012592|C537520,72967001|95323007,,,, 436,skene_gland_carcinoma,,189.4,,93944002|363460002,C68.1,,, 437,acanthosis_nigricans,acanthosis_nigricans,,D000052,72129000|402599005,L83,D000052,L83,402599005 438,filamentary_keratitis,,370.23,,51286002,,,, 439,multiple_symmetrical_lipomatosis,,,D008069,238902007,,,, 440,powassan_encephalitis,powassan_encephalitis,,,,,,, 441,xerophthalmia,xerophthalmia,372.53,D014985,363677007|64718006|193887002|155167008|69316005,,,, 442,tick_borne_encephalitis,tick-borne_encephalitis,063.2,D004675,414093008|186591007|17648006|359682007|359678005|16901001,,D004675,A84,414093008|415821008 443,breast_mucoepidermoid_carcinoma,,,,,,,, 444,obstructive_jaundice,,,D041781,44018007|155832005|59848001|266545005|197452009,,,, 445,erythema_multiforme,erythema_multiforme,,,,L51,,, 446,biliary_atresia,biliary_atresia,751.61,D001656,77480004|204779004|204783004,Q44.2,D001656,Q44.2,77480004 447,leg_dermatosis,,,D007868,,,,, 448,androgen_insensitivity_syndrome,androgen_insensitivity_syndrome,259.5|259.51,C538434|D013734,154713003|190562003|52832001|237802009|267486007|12313004,E34.5,D013734,E34.5,12313004|52832001 449,hyperlipoproteinemia_type_iii,,,D006952,42569002|398796005,,,, 450,freemartinism,,,D005611,,,,, 451,cutis_laxa,cutis_laxa,,D003483,58588007|238825007,,D003483,Q82.8,58588007 452,secretory_uterine_corpus_endometrioid_adenocarcinoma,,,,,,,, 453,thymus_mucoepidermoid_carcinoma,,,,,,,, 454,uremic_neuropathy,,,,11659006,,,, 455,dermal_unilateral_segmental_cavernous_angioma,,,,254783008,,,, 456,influenza_myositis,,487.8,,195927002|61700007|195930009,,,, 457,psychologic_vaginismus,,306.51,D052065,71787009|192469003|154924008|268773000,F52.5,,, 458,childhood_extraosseous_osteosarcoma,,,,,,,, 459,mucin_rich_endometrial_endometrioid_adenocarcinoma,,,,,,,, 460,tuberculous_salpingitis,,016.6,,186243007|186242002,,,, 461,autoimmune_polyendocrine_syndrome_type_1,autoimmune_polyendocrine_syndrome_type_1,,,,,,, 462,autoimmune_polyendocrine_syndrome_type_2,autoimmune_polyendocrine_syndrome_type_2,,,,,,, 463,cutaneous_lupus_erythematosus,,,,,,D008178,L93,7119001 464,acute_hydrops_keratoconus,,371.62,,111523009,,,, 465,familial_retinoblastoma,,,D012175,,,,, 466,trilateral_retinoblastoma,,,,,,,, 467,cerebral_artery_occlusion,,434|434.9,,266255008|286956007|195188006|155400001|20059004|155403004,,,, 468,kunjin_encephalitis,kunjin_encephalitis,,,,,,, 469,axillary_adenitis,,,,,,,, 470,serous_cystadenocarcinoma,serous_cystadenocarcinoma,,D018284,90725004|189685001,,,, 471,epidermolysis_bullosa_simplex,epidermolysis_bullosa_simplex,,D016110,67144006|205585003,,,Q81.0, 472,papillary_carcinoma,papillary_carcinoma,,D002291,25910003|189562005,,,, 473,papillary_cystadenocarcinoma,,,D018283,189687009|2735009,,,, 474,hyperpigmentation_of_eyelid,,374.52,,41115008,,,, 475,idiopathic_pulmonary_fibrosis,idiopathic_pulmonary_fibrosis,,D054990,,,,, 476,acquired_night_blindness,,368.62,,53808001,,,, 477,pulmonary_aspergilloma,,,,,,,, 478,cryptogenic_organizing_pneumonia,cryptogenic_organizing_pneumonia,,,,,D018549,J84.8, 479,lymphoid_interstitial_pneumonia,lymphoid_interstitial_pneumonia,,,,,,J84.8,44274007 480,respiratory_bronchiolitis_associated_interstitial_lung_disease,,,,,,,, 481,sleeping_sickness,,086.5,D014353,187512007|78940002|27031003|186818008,B56,D014353,B56,27031003 482,gastrin_secretion_abnormality,,251.5,,190445005|190443003|47344007,E16.4,,, 483,acquired_tear_duct_stenosis,,375.56,,155184002|267739007|193995004|90056003,,,, 484,infective_urethral_stricture,,598.01,,,,,, 485,rectum_lymphoma,,,,,,,, 486,stenosis_of_lacrimal_punctum,,375.52,,74783009,,,, 487,stenosis_of_lacrimal_passage,,375.53,,193992001|81345003,,,, 488,eversion_of_lacrimal_punctum,,375.51,,28244003,,,, 489,polyneuropathy_in_collagen_vascular_disease,,357.1,,193177003|193181003,,,, 490,benign_mastocytoma,,,,404171008|189506005|89796001|190020000|134333006,,,, 491,idiopathic_peripheral_autonomic_neuropathy,,337.0,,192916006|86489003|192914009,G90.0,,, 492,fallopian_tube_adenosarcoma,,,,,,,, 493,ulcer_of_anus_and_rectum,,569.41,,197227009,K62.6,,, 494,post_vaccinal_encephalitis,,,D004673,31367003,,,, 495,keshan_disease,keshan_disease,,,,,,, 496,thymus_lipoma,,,,,,,, 497,rhinotracheitis,,,,,,,, 498,campylobacteriosis,campylobacteriosis,,D002169,86500004,A04.6,,, 499,favism,favism,,D005236,154801000|267558001|191172001|76500009,,,, 500,photokeratitis,photokeratitis,370.24,,193770007|1714005,,,, 501,tinea_barbae,tinea_barbae,,,,,,, 502,dentine_erosion,,521.32,,,,,, 503,fanconis_anemia,fanconi_anemia,,D005199,30575002,,,, 504,ectothrix_infectious_disease,,,,,,,, 505,rectum_malignant_melanoma,,,,276822007,,,, 506,lutembachers_syndrome,,,D008185,38842003|204319006,,,, 507,exfoliation_syndrome,exfoliation_syndrome,365.52,D017889,44219007|111514006,,,, 508,bone_giant_cell_sarcoma,,,,10069009,,,, 509,chronic_eustachian_salpingitis,,381.52,,16397004|194269002,,,, 510,fallopian_tube_endometriosis,,617.2,,22611009,N80.2,,, 511,gastric_neuroendocrine_neoplasm,,,,,,,, 512,prostate_calculus,,602.0,,85324003|155934005|95592006,N42.0,,, 513,endometriosis_of_pelvic_peritoneum,,617.3,,198251001|198252008,N80.3,,, 514,endosalpingiosis,endosalpingiosis,,,55850004,,,, 515,endometriosis_of_intestine,,617.5,,5562006|198255005,N80.5,,, 516,mongolian_spot,mongolian_spot,,D049328|D011561|D007644|D008538,157017000|40467008|268355000|205574000|252246005|7109007|239140003|240633005|48611009|205582000|230325003,,D007644,Q82.8|I89.0,48611009 517,cervicomedullary_junction_neoplasm,,,,,,,, 518,middle_ear_cholesteatoma,,385.32|385.33|385.3,D018424,21461006|39911004|87688009|194338004|194339007|194340009|360584008,H71,,, 519,endometriosis_in_scar_of_skin,,617.6,,53913001,,,, 520,endometriosis_of_ovary,endometriosis_of_ovary,617.1,,31007005|198250000|266589005,N80.1,,, 521,dermoid_cyst_of_skin,,,,154630005|201325006|276729007,,,, 522,endometriosis_of_rectovaginal_septum_and_vagina,,617.4,,198254009|198253003,N80.4,,, 523,acute_gonococcal_cystitis,,098.11,,24868007,,,, 524,ovarian_endometriosis,,,,,,,, 525,choroiditis,choroiditis,,D002833,16553002|193449000,,,, 526,diphtheria,diphtheria,,D003354,397434007,A36|A36.9,D004165,A36,397428000 527,blounts_disease,,,C536237,,,C536237,M92.5, 528,benign_familial_neonatal_epilepsy,benign_familial_neonatal_epilepsy,,D020936,279953009|230410004,,,, 529,blepharophimosis_ptosis_and_epicanthus_inversus_syndrome,,,,,,,, 530,hemangioma_of_spleen,,,,93472004,,,, 531,retinal_perforation,,,D012167,302888003|193317004|193343003|155104004|40024006|95690009|232003005,H33.3,,, 532,alcoholic_psychosis,,291.9,D011604,191482008|154852003|192212000|42344001|268684002,,,, 533,kbg_syndrome,,,C537015,,,C537015,Q87.8, 534,olivopontocerebellar_atrophy,olivopontocerebellar_atrophy,,D009849,37250002|67761004|192834006,,C536514,Q87.8|G11, 535,trachea_leiomyoma,,,D014134,126703006,,,, 536,chronic_duodenal_ileus,,537.2,,52232007,,,, 537,cellular_schwannoma,,,,253086004|985004|404026003,,,, 538,nemaline_myopathy,nemaline_myopathy,,D017696,75072002,,,G71.2, 539,schwannoma_of_twelfth_cranial_nerve,,,,,,,, 540,c_p_angle_neurinoma,,,,,,,, 541,sapho_syndrome,,,D020083,60684003|203140009,,,M86.3,60684003 542,posterior_scleritis,,379.07,,267660007|194144007|49429000,,,, 543,xanthogranulomatous_pyelonephritis,,,D011705,197777006|38898003,,,, 544,leber_congenital_amaurosis,,,D057130,193413001,,,, 545,hypohidrotic_ectodermal_dysplasia,hypohidrotic_ectodermal_dysplasia,,D053360|C537151|D053358|D053359,7731005|239007005|4826006,,D053358,Q82.4,239007005 546,von_willebrands_disease,von_willebrand_disease,286.4,D014842,11093006|128105004|154819009,D68.0,,, 547,dubowitz_syndrome,dubowitz_syndrome,,C535718,2593002,,C535718,Q87.1,2593002 548,liver_angiosarcoma,,,,109844006|187770005,,,, 549,calcaneonavicular_coalition,,,,62628008,,,, 550,greig_cephalopolysyndactyly_syndrome,greig_cephalopolysyndactyly_syndrome,,,32985001,,C537300,Q87.0,32985001 551,trachea_carcinoma_in_situ,,231.1,,92772005,D02.1,,, 552,tibial_nerve_palsy,,,,359842002|365258000,,,, 553,spondyloepiphyseal_dysplasia_congenita,spondyloepiphyseal_dysplasia_congenita,,,51952004,Q77.7,,Q77.7, 554,tarsal_tunnel_syndrome,tarsal_tunnel_syndrome,355.5,D013641,47374004|155077008,G57.5,,, 555,lung_carcinoma_in_situ,,231.2,,189268005|189262006,D02.2,,, 556,common_peroneal_nerve_lesion,,355.3,,16006009|55740007|399107008,G57.3,,, 557,plantar_nerve_lesion,,355.6,,193148004|193151006|60525009,G57.6,,, 558,bagassosis,bagassosis,495.1,D011009,67242002,J67.1,,, 559,intermediate_coronary_syndrome,,411.1,D000789,59021001|155308009|4557003|233818002|233820004|155313008|194819001|25106000|64333001|194816008|194817004|194814006|155314002,I20.0,,, 560,coffin_siris_syndrome,,,C536436,10007009,F70-F79|F79|F79.0|F79.9,C536436,Q87.1,10007009 561,klinefelters_syndrome,klinefelter_syndrome,758.7,C531723|D007713,405770005|268357008|405769009|205712007|205701007|157021007|205696000|22053006,Q98.4,,, 562,hyperuricemia,hyperuricemia,,D033461,271198001|144021008|35885006|237857006|166733000,E79.0,,, 563,larsen_syndrome,larsen_syndrome,,,,,,Q68.8, 564,autosomal_recessive_type_iv_ehlers_danlos_syndrome,,,,70610001,,,, 565,type_iii_ehlers_danlos_syndrome,,,C536196,30652003,,,, 566,gastric_hemangioma,,,,,,,, 567,argininosuccinic_aciduria,argininosuccinic_aciduria,,D056807,41013004|124630007,,D056807,E72.2,41013004 568,chorioangioma,,,D006391,237268002|2099007,,,, 569,autosomal_dominant_type_iv_ehlers_danlos_syndrome,,,,,,,, 570,hodgkins_lymphoma_nodular_sclerosis,,201.5,,188573006|52248008|134178004|188564003|118608000,C81.1,,C81.1, 571,lesch_nyhan_syndrome,lesch-nyhan_syndrome,,D007926,68655008|190917005|124275001|190918000|267451005|190921003|90924007|10406007,E79.1,D007926,E79.1,10406007 572,retinal_ischemia,retinal_ischemia,362.84,,26468004|193427006,,,, 573,hemangioma_of_liver,,,,93469006|235879002,,,, 574,vaginal_yolk_sac_tumor,,,,,,,, 575,cartilage_hair_hypoplasia,cartilage-hair_hypoplasia,,C535916,234421004|7720002,,C535916,Q78.8,7720002 576,type_vi_ehlers_danlos_syndrome,,,C536198,25606004,,,Q79.6, 577,colon_carcinoma_in_situ,,230.3,,92568009|189230008,D01.0,,, 578,malignant_skin_fibrous_histiocytoma,,,,404014008,,,, 579,craniofrontonasal_syndrome,,,C536456,,,C536456,Q87.1, 580,hereditary_multiple_exostoses,hereditary_multiple_exostoses,,D005097,240186007|16535008|84852005|254044004|205479007,,,, 581,trichorhinophalangeal_syndrome_type_i,,,C536820,239016009|254091006,,,Q87.1, 582,intermittent_squint,,378.20|378.2,,74025007|246734002|194105004,H50.3,,, 583,telogen_effluvium,telogen_effluvium,704.02,,201147004|39479004,L65.0,,, 584,trichomoniasis,trichomoniasis,131.9|131,D014245,56335008|105648001|187206001|187364002,A59|A59.9,,, 585,kidney_hemangiopericytoma,,,,254923001,,,, 586,hepatic_flexure_cancer,,153.0,,363407001|154455006|93826009|269534006,C18.3,,, 587,transverse_colon_cancer,,153.1,,154456007|363408006|269535007|94105000,C18.4,,, 588,bells_palsy,bells_palsy,351.0,D020330,193093009|267703001|155070005|79359001,G51.0,,, 589,renal_agenesis,renal_agenesis,,,,,C536482,Q60.1, 590,saethre_chotzen_syndrome,,,C538522|D000168,390746005|83015004|390726000,,,Q87.0,83015004 591,fg_syndrome,,,C537923,49984004,,,Q87.8, 592,type_i_ehlers_danlos_syndrome,,,C536194,83470009,,C536194,Q79.6,83470009 593,ankylosis,ankylosis,718.50|718.5,D000844,202323002|202297005|36504009|111227009|156559001|156569007,,,, 594,penis_carcinoma_in_situ,,233.5,,18348002|398831006|255147003|255104003|255105002|400092004|92679008|398768004,D07.4,,, 595,spleen_angiosarcoma,,,,187821001,,,, 596,heel_spur,heel_spur,726.73,D036982,268090002|55260003|156663001,,,, 597,hereditary_angioedema,hereditary_angioedema,,D054179,82966003,,,D84.1, 598,tonsil_cancer,tonsil_cancer,146.0,D014067,187674009|187672008|363393007|187671001|93937006,,,, 599,bardet_biedl_syndrome,,,D020788,5619004,,D007849,Q87.8,232059000 600,angelman_syndrome,angelman_syndrome,,D017204,76880004,,D017204,Q93.5,76880004 601,rubinstein_taybi_syndrome,rubinstein-taybi_syndrome,,C531810|D012415,157032007|45582004,,D012415,Q87.2,45582004 602,sotos_syndrome,sotos_syndrome,,D058495,75968004,,D058495,Q87.3,75968004 603,isovaleric_acidemia,isovaleric_acidemia,,C538167,87827003,,C538167,E71.1,87827003 604,laurence_moon_syndrome,,,D007849,232059000|5619004|232060005,,,, 605,williams_beuren_syndrome,,,D018980,63247009,,D018980,Q87.8,63247009 606,sublingual_gland_cancer,,142.2,,363381003|94076001,C08.1,,, 607,partington_syndrome,,,,,,,, 608,gauchers_disease,gauchers_disease,,D005776|C535732,2859005|190794006|62201009|180485001,,D005776,E75.2,190794006|62201009 609,supravalvular_aortic_stenosis,supravalvular_aortic_stenosis,,D021921,268185002|204436002,,D021921,Q25.3,268185002|7169009 610,fallopian_tube_leiomyosarcoma,,,,,,,, 611,centronuclear_myopathy,centronuclear_myopathy,,D020914,82077006|193223007,,,G71.2, 612,lateral_sclerosis,,335.24,D016472,81211007,,,G12.2,81211007 613,posterior_choanal_atresia,,,,,,,, 614,pulmonary_subvalvular_stenosis,,746.83,D011662,204370002|3192005,Q24.3,,, 615,enamel_caries,,521.01,,196303003|19437001|109570002|80353004,,,, 616,weaver_syndrome,weaver_syndrome,,,,,C536687,Q87.3|Q87.8,63119004 617,actinic_keratosis,actinic_keratosis,702.0,D055623,201098008|201106002|156395005|267860005|201107006|156400006|201101007|46795000|156398007|267858008|856006,L57.0,,, 618,autosomal_dominant_microcephaly,,,C537323,,,C537323,Q02, 619,acute_perichondritis_of_pinna,,380.01,,45855004,,,, 620,molluscum_contagiosum,molluscum_contagiosum,078.0,D008976,154360009|40070004,B08.1,,, 621,korean_hemorrhagic_fever,korean_hemorrhagic_fever,,,,,,, 622,beta_ketothiolase_deficiency,beta-ketothiolase_deficiency,,C535818,238067002,,,E71.1, 623,basilar_artery_insufficiency,,435.0,D014715,64009001|195197005,,,, 624,neuromyelitis_optica,neuromyelitis_optica,341.0,D009471,25044007,G36.0,D009471,G36.0,25044007 625,acute_monocytic_leukemia,acute_monocytic_leukemia,206.0,D007948,154594005|277601005|413441006|22331004|91859000,,D007948,C92.7,277601005|278170009|413441006 626,epstein_barr_virus_hepatitis,,,,,,,, 627,nephropathia_epidemica,nephropathia_epidemica,,,,,,, 628,intracranial_abscess,,324.0,,192746000|27614006|192738001,,,, 629,lujo_hemorrhagic_fever,,,,,,,A96.8, 630,epithelioid_cell_melanoma,,,,37138001,,,, 631,apparent_mineralocorticoid_excess_syndrome,apparent_mineralocorticoid_excess_syndrome,,D043204,237770005,,C537422|D043204,E26.1,237770005 632,malignant_breast_melanoma,,,,188050009,,,, 633,intracranial_embolism,,434.1,D020766,75543006|155402009,,,, 634,gastric_leiomyoma,,,,276812001,,,, 635,schnitzler_syndrome,schnitzler_syndrome,,D019873,402415001,,D019873,L50.8,402415001 636,syphilitic_encephalitis,,094.81,,192700000|26135000|192699001,,,, 637,stomach_diverticulosis,,,D045724,,,,, 638,sparganosis,sparganosis,123.5,D013031,187152002|31659000,B70.1,,, 639,nut_allergic_reaction,,,D021184,395654004|91934008,,,, 640,diaphragma_sellae_meningioma,,,,,,,, 641,milk_allergic_reaction,,,D016269,,,,, 642,lambert_eaton_myasthenic_syndrome,,,,,G73.1,D015624,G73.1,56989000 643,epiglottis_neoplasm,,,,126699008,,,, 644,peanut_allergic_reaction,peanut_allergy,,D021183,91935009|213021008,,,, 645,egg_allergy,egg_allergy,,D021181,213019003|91930004|157802003,,,, 646,benign_lymphoepithelial_lesion_of_salivary_gland,,,,45517002,,,, 647,submandibular_gland_disease,,,D013364,,,,, 648,silo_fillers_disease,,,D012832,61233003,,,, 649,selective_igm_deficiency_disease,,,,,D80.4,,D80.4, 650,orbit_alveolar_rhabdomyosarcoma,,,,,,,, 651,myofibroma,,,D047708,44598004|128917003,,,, 652,soft_tissue_peripheral_neuroepithelioma,,,,,,,, 653,bone_peripheral_neuroepithelioma,,,,,,,, 654,papillary_squamous_carcinoma,,,,39056008,,,, 655,swine_influenza,swine_influenza,,,,J09|J10|J10.0|J10.1|J10.8|J11.0|J11.1|J11.8,,, 656,childhood_ovarian_endodermal_sinus_tumor,,,,,,,, 657,mixed_lacrimal_gland_cancer,,,,254989000,,,, 658,eye_carcinoma,,,D005134,126995000|371486001|188277006,,,, 659,pleomorphic_adenoma_carcinoma,carcinoma_ex-pleomorphic_adenoma,,,189811003|17264009,,,, 660,granulomatous_dermatitis,,,,,,,, 661,pustulosis_of_palm_and_sole,,,D011565,27520001|238610005,,,, 662,acneiform_dermatitis,,,,,,,, 663,polycystic_echinococcosis,,,,,,,, 664,reticulohistiocytic_granuloma,reticulohistiocytic_granuloma,,D015616,404162004|128741006|15960008|189097004,,,, 665,localized_peripheral_primitive_neuroectodermal_tumor,,,,,,,, 666,pediatric_leptomeningeal_melanoma,,,,,,,, 667,esophagus_small_cell_carcinoma,,,,,,,, 668,gallbladder_small_cell_carcinoma,,,,,,,, 669,urinary_bladder_small_cell_neuroendocrine_carcinoma,,,,,,,, 670,epidermolytic_acanthoma,epidermolytic_acanthoma,,,,,,, 671,erdheim_chester_disease,,,D031249,,,D031249,D76.3, 672,marburg_hemorrhagic_fever,marburg_hemorrhagic_fever,,D008379,77503002|123322008,A98.3,,A98.3, 673,jejunal_somatostatinoma,,,,,,,, 674,jejunal_neoplasm,jejunal_neoplasms,,D007580,254575004|126834003,,,, 675,urinary_tract_non_invasive_transitional_cell_neoplasm,,,,,,,, 676,burning_mouth_syndrome,burning_mouth_syndrome,,D002054,399165002|111349000,,,, 677,parovarian_cyst,,,D010310,204831002|64233004,,,, 678,macrocystic_neurilemmoma,,,,,,,, 679,neurilemmomatosis,,237.73,C536641,,,C536641,Q85.0,254240003 680,splenic_manifestation_of_prolymphocytic_leukemia,,,,,,,, 681,langerhans_cell_sarcoma,langerhans_cell_sarcoma,,D054752,128814006,,D054752,C25.4,128814006 682,sympathetic_neurilemmoma,,,,,,,, 683,ankylosing_spondylitis,,720.0,D013167,9631008|156619005,M45,,, 684,neurilemmoma_of_the_fifth_cranial_nerve,,,,277185000,,,, 685,tinea_favosa,,,D014007,85375000,,,, 686,plexiform_schwannoma,,,,985004|253087008|404025004,,,, 687,junctional_epidermolysis_bullosa,,,D016109,76905008|399971009|79855003,,D016109,,399971009 688,adult_leptomeningeal_melanoma,,,,,,,, 689,laryngeal_small_cell_carcinoma,,,,,,,, 690,thalamic_neoplasm,,,,188287005,,,, 691,thymus_small_cell_carcinoma,,,,,,,, 692,prostate_small_cell_carcinoma,,,,396198006,,,, 693,bartholins_gland_small_cell_carcinoma,,,,,,,, 694,endometrial_small_cell_carcinoma,,,,,,,, 695,pilar_sheath_acanthoma,pilar_sheath_acanthoma,,D049309,254693008,,,, 696,large_cell_acanthoma,large-cell_acanthoma,,,,,,, 697,non_gestational_choriocarcinoma,,,D031954,,,,, 698,ampulla_of_vater_small_cell_carcinoma,,,,,,,, 699,ebola_hemorrhagic_fever,ebola_hemorrhagic_fever,,D019142,186746000|123323003|37109004,A98.4,,A98.4, 700,acantholytic_acanthoma,,,,397188008,,,, 701,cystitis_cystica,cystitis_cystica,595.81,,13285005,,,, 702,pelizaeus_merzbacher_disease,pelizaeus-merzbacher_disease,,D020371,64855000,G82.1,D020371,E75.2,64855000 703,variegate_porphyria,variegate_porphyria,,D046350,58275005|276264004,,,E80.2, 704,lymphocele,lymphocele,,D008210,12167004|234110002|234109007,,,, 705,gastric_dilatation,,,D013271,,,,, 706,tracheal_stenosis,tracheal_stenosis,,D014135,11296007,,,, 707,ciliary_body_disease,,,,68575007|193481009|155116005|267719008,,,, 708,causalgia,causalgia,,D002422,408751001|66056001|247397004|155074001|267705008,G56.4,,G56.4, 709,amelanotic_melanoma,amelanotic_melanoma,,D018328,70594002,,,, 710,radiation_cystitis,,595.82,,11251000,N30.4,,, 711,mixed_eosinophil_basophil_adenoma,,,,48619006,,,, 712,central_nervous_system_lymphoma,,200.5,,190006007|69110006|21964009|307649006,,,, 713,high_pressure_neurological_syndrome,high_pressure_neurological_syndrome,,D006610,,,,, 714,telangiectatic_glomangioma,,,,,,,, 715,gnathomiasis,,128.1,D058429,44086001,B83.1,,, 716,trichosporonosis,trichosporonosis,,,,,,, 717,sensorineural_hearing_loss,sensorineural_hearing_loss,389.14,D006313,68467004|194427003|60700002|194421002|232326009|155256000|267770004,,,, 718,thyroid_lymphoma,thyroid_lymphoma,,,,,,, 719,cryptorchidism,cryptorchidism,752.51,D003456,156967003|204882004|37501009|367721002|204879009|268226005|204878001|127907005,Q53|Q53.1|Q53.2,,, 720,epidural_abscess,,,D020802,310671007|192752004|61974008,,,, 721,penicilliosis,penicilliosis,,,,,,, 722,fusariosis,fusariosis,,,,,,B48.7, 723,expressive_language_disorder,expressive_language_disorder,315.31,,229733002|192565006|80360005|268734000,F80.1,,, 724,choroid_spindle_cell_melanoma,,,,,,,, 725,anus_basaloid_carcinoma,,,,,,,, 726,cloacogenic_carcinoma,,,,84570003,,,, 727,ciliary_body_spindle_cell_melanoma,,,,,,,, 728,anal_buschke_lowenstein_tumor,,,,,,,, 729,anal_canal_squamous_cell_carcinoma,,,,,,,, 730,nasal_vestibule_papilloma,,,,232364006,,,, 731,lipid_pneumonia,lipid_pneumonia,,D011017,37629004|416916004|196038008,,,, 732,congenital_aphakia,,743.35,,35387008,Q12.3,C537786,Q12.3,35387008 733,conidiobolomycosis,conidiobolomycosis,,,,,,, 734,functional_diarrhea,,564.5,,47812002,,,, 735,benign_dermal_neurilemmoma,,,,,,,, 736,anal_spasm,anal_spasm,564.6,,197137007|17440005|197136003,K59.4,,, 737,basidiobolomycosis,basidiobolomycosis,,,,,,, 738,autoimmune_thyroiditis,autoimmune_thyroiditis,,D013967|D050031,21983002|66944004|190297000,E06.2|E06.3,,, 739,frontal_sinus_schneiderian_papilloma,,,,,,,, 740,subacute_lymphocytic_thyroiditis,subacute_lymphocytic_thyroiditis,,,361126006|18018005,,,, 741,embryonal_extrahepatic_bile_duct_rhabdomyosarcoma,,,,,,,, 742,superficial_basal_cell_carcinoma,superficial_basal_cell_carcinoma,,,61098004,,,, 743,signet_ring_basal_cell_carcinoma,,,,,,,, 744,selective_ige_deficiency_disease,,,,234540007,,,, 745,vulva_basal_cell_carcinoma,,,,,,,, 746,orbit_embryonal_rhabdomyosarcoma,,,,,,,, 747,cystic_basal_cell_carcinoma,cystic_basal_cell_carcinoma,,,,,,, 748,sarcomatoid_basal_cell_carcinoma,,,,,,,, 749,radiculopathy,radiculopathy,,D011843,72274001|394640000,M54.1,,, 750,cycloplegia,cycloplegia,367.51,,232141000|68158006|255335004,,,, 751,hyperlucent_lung,,,D019568,,,,, 752,compensatory_emphysema,,518.2,,33325001,J98.3,,, 753,interstitial_emphysema,,518.1,,11211003,J98.2,,, 754,tabes_dorsalis,tabes_dorsalis,094.0,D013606,154384001|315826004|316841006|266210001|186885003|2844004|51928006|266134000,,,, 755,hairy_tongue,hairy_tongue,,D014064,255225007|81934005,,,, 756,asymptomatic_neurosyphilis,asymptomatic_neurosyphilis,094.3,D009494,37754005,A52.2,,, 757,malignant_testicular_leydig_cell_tumor,,,,,,,, 758,prostate_stromal_sarcoma,,,,,,,, 759,prostate_embryonal_rhabdomyosarcoma,,,,,,,, 760,piebaldism,piebaldism,,D016116,6479008,,D016116,E70.3,6479008 761,chronic_granulomatous_disease,chronic_granulomatous_disease,,D006105,387759001|11210002|191354002|191352003,L92.9,,, 762,smooth_muscle_tumor,,,D018235,189799007|75109009,,,, 763,subacute_leukemia,,208.2,,49432002|154601003|188765000|190026006|95272003|302855005,,,, 764,epidermolysis_bullosa_acquisita,epidermolysis_bullosa_acquisita,,D016107,200911009|2772003,L12.3,,L12.3,2772003 765,mucinous_ovarian_cystadenoma,,,,119422004,,,, 766,lung_occult_adenocarcinoma,,,,,,,, 767,lung_occult_large_cell_carcinoma,,,,,,,, 768,breast_fibrosarcoma,,,,,,,, 769,encapsulated_thymoma,,,,,,,, 770,pneumocystosis,pneumocystosis,136.3,D011020,88860002|415125002|155557008|57541005,B59,,B59+,88860002 771,coenurosis,coenurosis,,,,,,, 772,wermer_syndrome,,258.01,D018761,190566000|30664006,,D018761,D44.8,30664006 773,wagenmann_froboese_syndrome,,,D018814|C537376,61530001,,D018814,D44.8,61808009 774,subdural_empyema,subdural_empyema,,D013354,37660004,,,, 775,pulmonary_edema,pulmonary_edema,,D011654,19242006|266408001|196119001,,,, 776,adult_respiratory_distress_syndrome,adult_respiratory_distress_syndrome,,D012128,67782005|95437004|266411000|196150004|155627006|196154008,J80,D055371,,315345002 777,ampulla_of_vater_neoplasm,,,,126858004,,,, 778,primary_amebic_meningoencephalitis,,,,,,,, 779,juvenile_type_testicular_granulosa_cell_tumor,,,,189735004|77029009,,,, 780,subacute_thyroiditis,subacute_thyroiditis,245.1,D013968,237532008|237531001|38727009|154666006|237530000|190296009,E06.1,,, 781,heart_fibrosarcoma,,,,,,,, 782,cerebral_arteritis,cerebral_arteritis,437.4,,28366008,I67.7|I68.2,,, 783,heart_malignant_hemangiopericytoma,,,,,,,, 784,jobs_syndrome,,,D007589,191009009|41541007|50926003|191351005,D82.4,,, 785,rectum_leiomyoma,,,,,,,, 786,spindle_cell_rhabdomyosarcoma,,,,404055006|128749008,,,, 787,rhinoscleroma,rhinoscleroma,040.1,D012226,72409005,,,, 788,nodular_malignant_melanoma,nodular_melanoma,,,2142002|254731001,,,, 789,lemierres_syndrome,,040.3,D005674,52542005,,D057831,, 790,philophthalmiasis,,,,,,,, 791,skin_amelanotic_melanoma,,,,276751004,,,, 792,invasive_malignant_thymoma,,,,,,,, 793,adult_central_nervous_system_immature_teratoma,,,,,,,, 794,adult_central_nervous_system_mature_teratoma,,,,,,,, 795,ainhum,ainhum,136.0,D000387,38528001|51404004,L94.6,,, 796,schizophreniform_disorder,,295.4,D011618,88975006,,,, 797,late_congenital_syphilis,,090.40|090.4,D009494,4243004|186837004|186839001|187350002|82323002|186836008,,,, 798,arcus_senilis,arcus_senilis,,D001112,111522004|231924000|155159000,,,, 799,granulomatous_amebic_encephalitis,,,,,,,, 800,combined_thymoma,,,,,,,, 801,balloon_cell_malignant_melanoma,,,,39274007|403922007,,,, 802,erysipelas,erysipelas,035,D004886,154305002|266005008|44653001,A46,,, 803,dysplastic_nevus_syndrome,,,D004416,,,,, 804,subglottis_neoplasm,,,,126696001,,,, 805,malignant_eyelid_melanoma,,172.1,,231834005|188031009,,,, 806,larynx_squamous_papilloma,,,,269637007,,,, 807,monkeypox,monkeypox,059.01,D045908,25157001|240466002|359811007|359814004|186582008,B04,,, 808,maxillary_sinus_adenoid_cystic_carcinoma,,,,,,,, 809,vaccinia,vaccinia,,D014615,111852003,,,, 810,larynx_leiomyoma,,,,,,,, 811,syphilitic_meningitis,,094.2,C536775,186887006|301086002|14968007,,,, 812,ophthalmomyiasis,ophthalmomyiasis,,,,B87.2,,, 813,ovarian_endometrioid_cystadenoma,,,,,,,, 814,lens_subluxation,lens_subluxation,379.32,D007906,155203002|267748002|65814009,,,, 815,diphyllobothriasis,diphyllobothriasis,123.4,D004169,49047003|187151009|359799003,B70.0,,B70.0,29061002 816,hereditary_conventional_renal_cell_carcinoma,,,,,,,, 817,hymenolepiasis,hymenolepiasis,123.6,D006925,44917000|187153007,B71.0,D006925,B71.0,44917000 818,cysticercosis,cysticercosis,123.1,D003551,105684008|59051007|187527007,B69|B69.9|B71.8,D003551,B69,105684008|59051007 819,tungiasis,tungiasis,,,,B88.1,D058285,B88.1, 820,thelaziasis,thelaziasis,,,,,,, 821,phlebotomus_fever,phlebotomus_fever,066.0,D010217,186606001|407476002|186605002|33670001|240517002|240518007,A93.1,,, 822,dioctophymiasis,,,,,,,, 823,baylisascariasis,baylisascariasis,,,,,,, 824,tibial_collateral_ligament_bursitis,,726.62,,202869006|44245003,,,, 825,neuroaspergillosis,,,D020953,,,,, 826,subserous_uterine_fibroid,,218.2,,95280005,,,, 827,optic_disk_drusen,optic_disk_drusen,377.21,D015594,33629003,,,, 828,interval_angle_closure_glaucoma,,365.21,,65460003,H40.2,,, 829,tinea_nigra,tinea_nigra,111.1,,185367005|184346000|1022006|186289000|187000000|266153005|183342005,B36.1,,, 830,stone_in_bladder_diverticulum,,594.0,,18109005,,,, 831,angiostrongyliasis,angiostrongyliasis,,,,B83.2,C536369,B81.3|B83.2,61750000 832,acanthocephaliasis,acanthocephaliasis,,,,,,, 833,mesocestoidiasis,,,,,,,, 834,twin_to_twin_transfusion_syndrome,twin-to-twin_transfusion_syndrome,,D005330,56268004|237299001|13404009,P50,,O43.0, 835,non_renal_secondary_hyperparathyroidism,,252.02,,,,,, 836,cortical_senile_cataract,,366.15,,78875003|193588001,,,, 837,cercarial_dermatitis,cercarial_dermatitis,120.3,,86711009|187115002|238534006,B65.3,,, 838,alveolar_periostitis,,526.5,D004368,61804006|196465007|12033006|196467004|251331003|196466008,K10.3,,, 839,allergic_contact_dermatitis_of_eyelid,,373.32,,402249007,L23|L23.0|L23.1|L23.2|L23.3|L23.4|L23.5|L23.6|L23.7|L23.8,,, 840,eczematous_dermatitis_of_eyelid,,373.31,,36259009,,,, 841,kwashiorkor,kwashiorkor,260,D007732,154730001|58262005|267495004,E40,,, 842,histoplasmosis_retinitis,,115.92,,187058000,,,, 843,african_histoplasmosis,african_histoplasmosis,115.10,,,,,, 844,mobitz_type_ii_atrioventricular_block,,426.12,,28189009,,,, 845,sigmoid_disease,,,D012810,,,,, 846,early_myoclonic_encephalopathy,early_myoclonic_encephalopathy,,D004831,192847001|192992007|37356005,,,, 847,hepatitis_c,hepatitis_c,070.7,D006526,186634008|50711007|123324009|154349000|186643004,,,, 848,chapare_hemorrhagic_fever,,,,,,,A96.8, 849,brazilian_hemorrhagic_fever,brazilian_hemorrhagic_fever,,,,,,A96.8, 850,trigonitis,trigonitis,595.3,,266629000|74445007|155885003|197843007|197844001|266562000,N30.3,,, 851,merrf_syndrome,merrf_syndrome,,D017243|C536098,68448003|230426003|57254004,,D017243,G40.3,230426003|68448003 852,mobius_syndrome,,,D020331,89444000|393607001,,,, 853,whitewater_arroyo_hemorrhagic_fever,,,,,A99|A98.8,,, 854,venous_tributary_occlusion_of_retina,,362.36,,,,,, 855,neonatal_infective_mastitis,,771.5,,3468005,P39.0,,, 856,tetanus_neonatorum,,771.3,,206338004|43424001|206339007,A33|P71.3,,, 857,tuberous_sclerosis,tuberous_sclerosis,759.5,D014402,157033002|157027006|268359006|7199000,Q85.1,,, 858,osteopetrosis,osteopetrosis,756.52,C537041|D010022,367489004|1926006|205500005|63941000|360504006|205502002,,,, 859,giant_cell_reparative_granuloma,,526.3,D006101,15350006,K10.1,,, 860,chronic_rheumatic_pericarditis,chronic_rheumatic_pericarditis,393,,194719006|78069008|155287003|194723003,I09.2,,, 861,loiasis,loiasis,125.2,D008118,44250009,B74.3,D008118,B74.3,44250009 862,cherubism,cherubism,,D002636,53432004|76098004,,D002636,K10.8,76098004 863,low_tension_glaucoma,,365.12,D057066,50485007|155124000|193567005,,,, 864,intrahepatic_cholestasis,,,D002780,4637005,,,, 865,mccune_albright_syndrome,,,D005357,10623005|205508003|36517007,M85.0|Q78.1,D005359|D005357,Q78.1,36517007|10623005 866,mucopolysaccharidosis_vi,mucopolysaccharidosis_vi,,D009087,190936000|69463008,,D009087,E76.2,52677002|69463008 867,mucopolysaccharidosis_iii,,,D009084,254071004|41572006|59990008|254070003|88393000|190936000,,,E76.2, 868,purulent_labyrinthitis,,386.33,,24817009,,,, 869,mucopolysaccharidosis_i,mucopolysaccharidosis_i,,D008059,190938004|75610003|267453008,E76.0,D008059,E76.0,75610003 870,mucopolysaccharidosis_vii,mucopolysaccharidosis_vii,,D016538,43916004|124470009,,D016538,E76.2,124470009|43916004 871,mucopolysaccharidosis_iv,mucopolysaccharidosis_iv,,D009085,378007|190936000|7259005|78856008|124449003|130197005|254074007,,D009085,E76.2,130197005|378007|7259005 872,cornea_squamous_cell_carcinoma,,,,255008003,,,, 873,polycythemia_vera,,238.4,D011087,31569001|128841001|109992005|154644004|134182002|269652000|278190000,D45,D011087,D45,109992005|128841001 874,mast_cell_sarcoma,mast_cell_sarcoma,202.6,D012515,13583002|188661000|118615008|188670002|307591004|188660004,,D012515,C96.2,118615008|13583002|188660004 875,menkes_disease,menkes_disease,,D007706,59178007,,,E83.0, 876,chronic_lacrimal_gland_enlargement,,375.03,,393582003|4839005|193972008,,,, 877,cannabis_dependence,cannabis_dependence,304.3,D002189,191836005|268766005|85005007|191835009,,,, 878,mononeuritis_of_upper_limb,,354.9,,193143008|58850003,,,, 879,blepharochalasis,blepharochalasis,374.34,,267650003|47704002|193944001|193962005,H02.3,,, 880,cervix_uteri_carcinoma_in_situ,,233.1,D018290,252990005|154637008|189339007|22725004|269491003|168405008|252991009|20365006|145597000|254889004|92564006|269649008,D06,,, 881,accessory_nerve_disease,accessory_nerve,352.4,D020436,84759007,,,, 882,narcolepsy,narcolepsy,347.0,D009290,267702006|155059003|60380001,,,G47.4, 883,subclavian_artery_aneurysm,,442.82,,40136003,,,, 884,status_epilepticus,status_epilepticus,,D013226,13973009|193019007|155039002|194499008|192998006|230456007,G41|G41.0|G41.9,,, 885,syringomyelia,syringomyelia,,D013595,111496009|155020007|267695005,,D013595,G95.0,111496009 886,subacute_sclerosing_panencephalitis,subacute_sclerosing_panencephalitis,046.2,D013344,186484007|359686005|416154000|192685000|84196008,A81.1,,, 887,quadriplegia,quadriplegia,344.00,D011782,155030003|11538006,G82.5,,, 888,thyroid_crisis,thyroid_crisis,,D013958,29028009|190262002,,,, 889,senile_entropion,,374.01,,55408009,,,, 890,mononeuritis_multiplex,mononeuritis_multiplex,354.5,D020422,30292005,,,, 891,diabetic_ketoacidosis,diabetic_ketoacidosis,250.1,D016883,420422005|154671004|24927004|190328004|267467004,,,, 892,spinal_accessory_nerve_neoplasm,,,,126977003,,,, 893,histrionic_personality_disorder,histrionic_personality_disorder,301.50|301.5,D006677,191764009|192489002|191767002|268758001|55341008|154900000,F60.4,,, 894,tonsillar_fossa_cancer,,146.1,,187680001|363394001|94102002,C09|C09.0,,, 895,autistic_disorder,autistic_disorder,299.0,D001321,34883005|408856003|191688000|191691000|38763009|408857007|192581001|154878007|43614003|271450003,F84.0,,, 896,secondary_lacrimal_atrophy,,375.14,,193979004|75068001,,,, 897,childhood_absence_epilepsy,childhood_absence_epilepsy,,D004832,192983009|79631006|155037000|50866000|16757004|230413002|140805008|192980007|163596002,,,, 898,ancylostomiasis,ancylostomiasis,,D000724,63479002|85807000,B76.0,,, 899,tenosynovitis_of_foot_and_ankle,,727.06,,,,,, 900,myelitis,myelitis,,D009187,41370002|267682000|192682002,,,, 901,tropical_spastic_paraparesis,tropical_spastic_paraparesis,,D015493,192733005|45129002,G04.1,,G04.1, 902,vascular_myelopathy,vascular_myelopathy,336.1,,192896006|192903006|155018009|29774004,G95.1,,, 903,female_infertility_of_uterine_origin,,628.3,,26899006|198458005|156063002,N97.2,,, 904,achilles_bursitis,achilles_bursitis,726.71,D052256,203394008|221695002|202879008|74859007|87494005|312785002|268091003|202893001|156665008|34840004|267996008,,,, 905,huntingtons_disease,huntingtons_disease,333.4,D006816,58756001|155006000,G10,D006816,G10,58756001|230299004 906,cowpox,cowpox,051.01,D015605,154344005|266193008|70090004,,,, 907,reflex_sympathetic_dystrophy,,337.21|337.20|337.2,D012019,393605009|15743005|203490000|50642008|156849009|203492008|128079007|403604006,,,, 908,progressive_muscular_atrophy,progressive_muscular_atrophy,335.21,D009134,88923002,,,, 909,tenosynovial_giant_cell_tumor,,727.02,,310605004|95412009|71508003|128777004|95413004,,,, 910,loeffler_endocarditis,loeffler_endocarditis,,,33258008,,,I42.3, 911,neuroendocrine_carcinoma,,,D018278,55937004|253000007,,,, 912,seborrheic_infantile_dermatitis,infantile_seborrheic_dermatitis,690.11|706.3|690.1|690.10,D012628,48596006|201177005|200764003|77592001|400201008|200763009|156329007|28431005|156327009|201241009|156328004|156421006|86708008|50563003,L21|L21.0|L21.1,,, 913,wolff_parkinson_white_syndrome,wolff-parkinson-white_syndrome,,D014927,155360000|251115003|266304003|74390002,I45.6,,, 914,severe_nonproliferative_diabetic_retinopathy,,362.06,,390720006|391178000|312905005,,,, 915,lattice_corneal_dystrophy,lattice_corneal_dystrophy,,C537935,71041007|193835001|1192004|231932008|361199007|419398009,,,, 916,eclampsia,eclampsia,,D004461,156111007|198996001|15938005|198988006|198989003,O15|O15.2,,, 917,autoimmune_thrombocytopenic_purpura,autoimmune_thrombocytopenic_purpura,,D016553,13172003|191316002|154825008|234490009|267567001|32273002|191315003,D69.3,D016553,D69.3,234490009 918,miller_fisher_syndrome,miller_fisher_syndrome,,D019846,230548007|1767005|193175006,,D019846,G61.0,1767005 919,leukoplakia_of_vagina,,623.1,,111420009,N89.4,,, 920,cervix_endometriosis,,,,61640006,,,, 921,hypochondriasis,hypochondriasis,300.7,D006998,154891008|18193002|192433006,F45.2,,, 922,olfactory_nerve_disease,olfactory_nerve,352.0,D020431,68982002,G52.0,,, 923,waldeyers_ring_cancer,,149.1,,187716008|94144008,C14.2,,, 924,plantar_fascial_fibromatosis,plantar_fibromatosis,728.71,C537000,13370002|202882003|240032001,M72.2,C537000,M72.2,13370002 925,evans_syndrome,evans_syndrome,287.32|287.39,C536380,191315003|75331009|191435001,D69.4,,D69.3,75331009 926,retromolar_area_cancer,,145.6,,93989001|363391009,C06.2,,, 927,sjogrens_syndrome,sjogrens_syndrome,710.2,D012859,83901003|156455009|267875002|268050000|201444003,,,, 928,atrophic_gastritis,atrophic_gastritis,535.1,D005757,84568007|196733008|270533009|155713006,,,, 929,keratoconjunctivitis_sicca,keratoconjunctivitis_sicca,,D007638,302896008|268050000|156455009|78946008|201444003,,,, 930,congenital_hypothyroidism,congenital_hypothyroidism,243,D003409,154661001|154660000|75065003|190273009|267376007|267465007|190312009|237563007|190268003|217710005|3614006,E00,D003409,E00|E03.0|E03.1,190268003 931,achondroplasia,achondroplasia,,D000130,268350005|268273004|205467007|190584003|86268005|248299001,Q77.4,D000130,Q77.4,86268005 932,gonadoblastoma,gonadoblastoma,,D018238,74751003,,,, 933,mucopolysaccharidosis_ii,mucopolysaccharidosis_ii,,D016532,70737009|190936000|61413000,E76.1,D016532,E76.1,70737009 934,neurodermatitis,neurodermatitis,,D009450,267854005|156383005,,,, 935,hallucinogen_abuse,,305.3,,74851005,,,, 936,teratocarcinoma,teratocarcinoma,,D018243,67830002,,,, 937,enlarged_vestibular_aqueduct,enlarged_vestibular_aqueduct,,,,,,, 938,ladd_syndrome,,,,,,,Q87.8, 939,hypophosphatemia,hypophosphatemia,,,,,,, 940,allergic_rhinitis,allergic_rhinitis,,,38103000,J30.1,,, 941,malignant_peritoneal_solitary_fibrous_tumor,,,,,,,, 942,avian_influenza,avian_influenza,,D005585,55604004,,,, 943,persian_gulf_syndrome,persian_gulf_syndrome,,D018923,95877004,,,, 944,tyrosinemia_type_ii,,,,,,,E70.2, 945,malignant_biphasic_mesothelioma,,,,30383009,,,, 946,sarcomatoid_mesothelioma,,,,54443001|399477001|209241006,,,, 947,malignant_epithelial_mesothelioma,,,,65278006,,,, 948,migraine_without_aura,,346.1,D020326,193027003|193029000|56097005,G43|G43.0|G43.1|G43.9,,, 949,cicatricial_ectropion,,374.14,,28914006,,,, 950,diabetic_polyneuropathy,,357.2,D003929,49455004|193182005|190349003,G63.2,,, 951,partial_sensory_epilepsy,,,D020937,,,,, 952,collecting_duct_carcinoma,bellini_duct_carcinoma,,D002292,128669006,,D002292,C64,128669006 953,frontal_lobe_epilepsy,,,D017034,230394006,,,, 954,multilocular_clear_cell_renal_cell_carcinoma,,,,254916002,,,, 955,haemonchiasis,,,D006188,,,,, 956,aniseikonia,aniseikonia,,,,,,, 957,papillary_renal_cell_carcinoma,,,C535359|D002292,4797003,,C538614,C64, 958,alkhurma_hemorrhagic_fever,,,,,,,, 959,tendon_sheath_lipoma,,,,,,,, 960,lumbosacral_lipoma,,,,,,,, 961,ovarian_mucinous_cystadenofibroma,,,,,,,, 962,gemistocytic_astrocytoma,,,D001254,73982001,,,, 963,acth_secreting_pituitary_adenoma,,,D049913,254958004|21109002,E24.0,D047748,E24.0,190502001 964,pseudohypoaldosteronism,pseudohypoaldosteronism,,D011546,77098009,,,, 965,mucolipidosis,mucolipidosis,,D009081,70528007,,,, 966,sarcomatoid_renal_cell_carcinoma,,,D002292,128668003,,,, 967,childhood_cerebral_astrocytoma,,,D001254,,,,, 968,protoplasmic_astrocytoma,,,D001254,55094006,,,, 969,osteitis_fibrosa,osteitis_fibrosa,,D010002,190453002|190451000|84727000,,,, 970,mucinous_tubular_and_spindle_renal_cell_carcinoma,,,,,,,, 971,clear_cell_adenocarcinoma,clear_cell_adenocarcinoma,,D008649,2221008|30546008|189861007|189633003|80727009,,,, 972,renal_clear_cell_carcinoma,,,D002292|C538445,41607009|188251003|254915003,,,C64, 973,atopic_dermatitis,atopic_dermatitis,,D003876,24079001|156331003|200775004|200772001|200779005,L20|L20.0,,, 974,infiltrating_lipoma,,,,24045002,,,, 975,cystoid_macular_edema,,,D008269,193387007,,,, 976,dyslexia,dyslexia,,D004410,59770006|158318003|52824009|206987006|154954003|268788005|192137002,,,, 977,temporal_lobe_epilepsy,temporal_lobe_epilepsy,,D004833,155040000|193000002|84340007,,,, 978,benign_epilepsy_with_centrotemporal_spikes,benign_childhood_epilepsy_with_centrotemporal_spikes,,D019305,193024005,,,, 979,partial_motor_epilepsy,,,D020938,128612007|82401000|67139004,,,, 980,tay_sachs_disease,tay-sachs_disease,,D013661,111385000,E75.0,D013661,E75.0,111385000 981,childhood_kidney_cell_carcinoma,,,,,,,, 982,hyperglobulinemic_purpura,,,D011694,402852007,,,, 983,gangliosidosis_gm1,gangliosidosis_gm1,,D016537,238025006|32917001,,,, 984,sandhoff_disease,sandhoff_disease,,D012497,23849003,,,, 985,mucinous_intrahepatic_cholangiocarcinoma,,,,,,,, 986,vertebral_artery_occlusion,,433.2,,,I65.0,,, 987,arteriovenous_malformation,arteriovenous_malformation,,,204480002|14156004|233982006|403966009|11071001,,,, 988,retinal_microaneurysm,,362.14,,193363005|34037000,,,, 989,hepatic_angiomyolipoma,,,,,,,, 990,epithelioid_type_angiomyolipoma,,,,,,,, 991,lymphangioleiomyomatosis,lymphangioleiomyomatosis,,D018192,277844007,,D018192,J98.4,73017001 992,cervical_alveolar_soft_part_sarcoma,,,,,,,, 993,juvenile_xanthogranuloma,juvenile_xanthogranuloma,,D014972,71709009|400204000|400031009|189098009,,D014972,D76.3,400031009|400204000 994,small_cell_osteogenic_sarcoma,,,,189882001|12302002,,,, 995,ornithosis,ornithosis,073|073.9,D009956,154367007|75116005|186653003|266200005|186657002|154369005,A70|J16.0,,, 996,sea_blue_histiocyte_syndrome,sea-blue_histiocyte_syndrome,,D012618,37821003,,,D76.3, 997,childhood_immature_teratoma_of_ovary,,,,,,,, 998,borst_jadassohn_intraepidermal_carcinoma,,,,39332000|274897005|403886007,,,, 999,metachronous_osteosarcoma_of_the_bone,,,,,,,, 1000,bile_duct_clear_cell_adenocarcinoma,,,,,,,, 1001,anisakiasis,anisakiasis,127.1,D017129,187173002|32183007,B81.0,D017129,B81.0,442035006|442652006 1002,chondroblastic_osteosarcoma,,,,76312009,,,, 1003,bronchial_mucus_gland_adenoma,,,,,,,, 1004,ventilation_pneumonitis,,495.7,,48347002|195990006,J67.7,,, 1005,solar_retinopathy,solar_retinopathy,363.31,,1135000,,,, 1006,tick_paralysis,tick_paralysis,,D013985,74225001,,,, 1007,peripheral_scars_of_retina,,363.34,,,,,, 1008,chronic_apical_periodontitis,,522.6,,196345001|196343008|87782002,K04.5,,, 1009,somatostatinoma,somatostatinoma,,D013005,253006001|128642005,,D013005,D13.7,128642005|253006001 1010,pancreatic_somatostatinoma,,,,,,,, 1011,small_intestine_neuroendocrine_neoplasm,,,,,,,, 1012,bacterial_vaginosis,bacterial_vaginosis,,D016585,237092002|198221007|155981006|419760006|85569008|266655004,,,, 1013,basaloid_squamous_cell_skin_carcinoma,,,,,,,, 1014,papillon_lefevre_disease,papillon-lefevre_disease,,D010214,40158001,,D010214,Q82.8,40158001 1015,cavernous_sinus_meningioma,,,,,,,, 1016,penis_basaloid_carcinoma,,,,,,,, 1017,cervical_basaloid_squamous_cell_carcinoma,,,,,,,, 1018,vulvar_basaloid_squamous_cell_carcinoma,,,,,,,, 1019,basaloid_lung_carcinoma,,,,,,,, 1020,ciliary_body_epithelioid_cell_melanoma,,,,,,,, 1021,choroid_epithelioid_cell_melanoma,,,,,,,, 1022,liposarcoma_of_bone,,,,,,,, 1023,plummers_disease,,242.3,,190250001|57777000|190254005,,,, 1024,folliculitis,folliculitis,,D005499,201183008|267863007|156411003|201177005|13600006,,,, 1025,cat_scratch_disease,cat_scratch_disease,078.3,D002372,123319006|266202002|154370006|79974007,A28.1,D002372,A28.1,79974007 1026,social_phobia,social_phobia,300.23,D010698,25501002|192395002,F40|F40.1,,, 1027,phototoxic_dermatitis,,,D017484,84326006|53597009,,,, 1028,spongiotic_dermatitis,,,,23615008,,,, 1029,occupational_dermatitis,occupational_dermatitis,,D009783,225055005|238578002|267842005|402587003|83252008|156338009|200780008,,,, 1030,localized_osteosarcoma,,,,,,,, 1031,bone_angioendothelial_sarcoma,,,,,,,, 1032,dermatosis_papulosa_nigra,dermatosis_papulosa_nigra,,,103672009|25499005|254669003,,,, 1033,esophageal_basaloid_squamous_cell_carcinoma,,,,,,,, 1034,fibrosarcoma_of_bone,,,,,,,, 1035,malignant_fibrous_histiocytoma_of_bone,,,,,,,, 1036,thymus_basaloid_carcinoma,,,,,,,, 1037,multiple_skull_base_meningioma,,,,,,,, 1038,vitamin_k_deficiency_hemorrhagic_disease,,269.0,D014813,124892003|52675005,,,, 1039,dic_in_newborn,,776.2,,34417008,,,, 1040,benign_deep_fibrous_histiocytoma,,,,,,,, 1041,trachoma,trachoma,076.9|076,D014141,154367007|52812002|266200005|186672003|186671005|187379009|2576002|29976007,A71|A71.0|A71.1|A71.9,,, 1042,keratomalacia,keratomalacia,371.45,C536156,193827004|85149007,E50|E50.0|E50.1|E50.2|E50.3|E50.4|E50.5|E50.6,,, 1043,rabies,rabies,071,D011818,275370001|186644005|14168008|187393002,A82|A82.9,D011818,A82,14168008 1044,typhoidal_tularemia,,,,,,,, 1045,glandular_tularemia,,,,,,,, 1046,adult_cystic_teratoma,,,,42717009,,,, 1047,congenital_ichthyosiform_erythroderma,congenital_ichthyosiform_erythroderma,,D017490,12215009|35970001|205550003|267372009|254156001|268245001|205549003|205556009|268282005,Q80|Q80.2,,Q80.2, 1048,malignant_melanocytic_peripheral_nerve_sheath_tumor_of_mediastinum,,,,,,,, 1049,lipid_rich_breast_carcinoma,,,,,,,, 1050,nonpapillary_renal_cell_carcinoma,,,,,,,, 1051,appendiceal_neoplasm,appendiceal_neoplasms,,D001063,126846004,,,, 1052,appendix_lymphoma,,,,,,,, 1053,spinal_cord_dermoid_cyst,,,,,,,, 1054,plethora_of_newborn,,776.4,,32984002|9170001|206518001,,,, 1055,anemia_of_prematurity,anemia_of_prematurity,776.6,,47100003,P61.2,,, 1056,chronic_adhesive_otitis_media,,385.10|385.1,,194330006|7699004|194331005,H74.1,,, 1057,brill_zinsser_disease,,081.1,D014438,47761007,A75.1,,A75.1,47761007 1058,carrions_disease,,,,,A44|A44.9,D001474,A44.0,186825001|240453002|262461007 1059,precursor_b_lymphoblastic_lymphoma_leukemia,,,,,,,, 1060,coronary_aneurysm,coronary_aneurysm,414.11,D003323,50570003|373139003,,,, 1061,bone_leiomyosarcoma,,,,,,,, 1062,cervix_melanoma,,,,,,,, 1063,hepatitis_e,hepatitis_e,,D016751,,,,, 1064,cutaneous_fibrous_histiocytoma,,,D018219,72079004|403999006|254750001|254749001|427186000|403997008|254753004|302843004|189051001|134302009,,,, 1065,fibrous_histiocytoma,fibrous_histiocytoma,,D018219,189770002|25889007|189769003,,,, 1066,lung_mixed_small_cell_and_squamous_cell_carcinoma,,,,,,,, 1067,orbital_osteomyelitis,,376.03,,65875003,,,, 1068,acute_hemorrhagic_conjunctivitis,,077.4,D003232,398273006|186677009|398264003|31502007,,,, 1069,orbital_cellulitis,orbital_cellulitis,376.01,D054517,194005002,,,, 1070,orbital_periostitis,,376.02,,65974003,,,, 1071,orbital_tenonitis,,376.04,,8976003,,,, 1072,conjunctival_folliculosis,,372.02,,41308008,,,, 1073,acute_contagious_conjunctivitis,,,,399219006|399047004|267734002|240066005|155162002,,,, 1074,multicentric_papillary_thyroid_carcinoma,,,,,,,, 1075,columnar_cell_variant_papillary_carcinoma,,,,,,,, 1076,tall_cell_variant_papillary_carcinoma,,,,,,,, 1077,chronic_tympanitis,,384.1,,89723004,H73.1,,, 1078,small_intestine_diverticulitis,,562.02,,,,,, 1079,angeluccis_syndrome,,372.05,,193863004|67678004,H10.1,,, 1080,primary_hyperparathyroidism,primary_hyperparathyroidism,252.01,D049950,54920000|36348003|190452007|237653008,E21.0|E21.3,,E21.0, 1081,macrocystic_pattern_testicular_yolk_sac_tumor,,,,,,,, 1082,pediatric_epithelioid_sarcoma,,,,,,,, 1083,lacrimal_gland_adenoid_cystic_carcinoma,,,,254987003,,,, 1084,familial_combined_hyperlipidemia,,272.2,D006950,267434003|154742006|299465007|238040008|48190005|190780005,E78.2,,, 1085,respiratory_syncytial_virus_infectious_disease,,,D018357,55735004|186750007,,,, 1086,pathological_gambling,pathological_gambling,312.31,D005715,192501004|284524008|18085000,F63.0,,, 1087,spastic_entropion,,374.03,,20828000,,,, 1088,tolosa_hunt_syndrome,tolosa-hunt_syndrome,,D020333,95794005|75111000,,C531833|D020333,H49.3,75111000|95794005 1089,kidney_clear_cell_sarcoma,clear-cell_sarcoma_of_the_kidney,,,189813000|24007003,,,, 1090,extrapyramidal_and_movement_disease,,333.90,,192866001|194467002,G20-G26|G26|G25.8,,, 1091,colorado_tick_fever,colorado_tick_fever,,D003121,6452009|186607005,A93.2,D003121,A93.2,6452009 1092,lymph_node_tuberculosis,,,D014388,186260002|10893003,,,, 1093,rheumatic_tricuspid_valve_disease,,397.0,,194745002|155289000|49699002|266282000,I07|I07.9|I39.2,,, 1094,wound_botulism,,,,,,,A05.1,398530003 1095,opioid_abuse,,305.5,,5602001,,,, 1096,infant_botulism,,,,,,,A05.1,414488002 1097,malignant_peritoneal_mesothelioma,,,,187806007|109853004,,,, 1098,benign_peritoneal_mesothelioma,,,,,C45.1|D19.1,,, 1099,buphthalmos,buphthalmos,743.21,,13832009|204116009|268157004,,,, 1100,foodborne_botulism,,,,,,,A05.1,398523009 1101,gonococcal_synovitis,,098.51,D013717,186927008|266138002|67801009|268092005|240035004|156666009,H01.9,,, 1102,gonococcal_bursitis,,098.52,,46699001|186928003,M73.0,,, 1103,adrenal_rest_tumor,,,D000314,54292009,,,, 1104,coccidioidomycosis,coccidioidomycosis,114|114.9,D003047,187025009|442543009|154408001|60826002|187035003|266218008|187481007,B38|B38.9,D003047,B38,442543009|60826002 1105,posterior_corneal_pigmentation,,371.13,,267639001|11293004|193807000,,,, 1106,basilar_artery_occlusion,,433.0,,195180004|155396001|78658006,,,, 1107,corneal_argyrosis,,371.16,,193809002|21328003,,,, 1108,unilateral_hyperactive_labyrinth,,386.51,,111542008|194372007,,,, 1109,labyrinthine_unilateral_reactive_loss,,386.55,,194376005|43000004,,,, 1110,toxic_megacolon,toxic_megacolon,,D008532,28536002,,,, 1111,organic_writers_cramp,,333.84,D020821,155009007|52008007|79994003|267690000,,,, 1112,urethral_intrinsic_sphincter_deficiency,,599.82,,,,,, 1113,oral_tuberculosis,,,D014393,235067001,,,, 1114,multidrug_resistant_tuberculosis,multidrug-resistant_tuberculosis,,D018088,423092005,,,, 1115,pancreas_sarcoma,,,,,,,, 1116,glanders,glanders,024,D005896,35322000|4639008,A24.0,,, 1117,pancreas_lymphoma,,,,,,,, 1118,pancreatic_endocrine_carcinoma,,157.4,D018273,93843007|254612002|187794005|60346004|254611009,C25.4,,, 1119,bejel,bejel,104.0,D014211,240686008|186978001|240688009|49487001|271426000,A65,,, 1120,conjunctiva_squamous_cell_carcinoma,,,,255003007,,,, 1121,hepatic_tuberculosis,,,D014386,186273003,,,, 1122,small_intestine_leiomyoma,,,,424279009,,,, 1123,cardiac_sarcoidosis,,,,75403004,,,, 1124,uveoparotid_fever,,,D014608,31541009|4416007,,,, 1125,cerebral_sarcoidosis,,,,111936002,,,, 1126,skin_sarcoidosis,,,,187234008|55941000,D86.3,,, 1127,perforation_of_bile_duct,,576.3,,37439003,K83.2,,, 1128,hypercalcemic_sarcoidosis,,,,,,,, 1129,pulmonary_sarcoidosis,,,D017565,187230004|24369008,D86.0|D86.2,,, 1130,drug_psychosis,drug_psychosis,292.1,D011605,191483003|154855001|191498001,,,, 1131,cryptosporidiosis,cryptosporidiosis,007.4,D003457,58777003|240370009|186126003,A07.2,D003457,A07.2,240370009|58777003 1132,alexia,,315.01,D004410,158316004|206985003|9236007,,,, 1133,neurogenic_bowel,,564.81,D055496,425671009,K59.2,,, 1134,myofascial_pain_syndrome,myofascial_pain_syndrome,,D009209,,,,, 1135,conversion_disorder,conversion_disorder,300.11,D003291,20734000|44376007|89239005,F43.9,,, 1136,melkersson_rosenthal_syndrome,melkersson-rosenthal_syndrome,,D008556,2511001|215617000|37770007,G51.2,D008556,G51.2,215617000|37770007 1137,facial_nerve_neoplasm,,,,126973004,,,, 1138,pulmonary_immaturity,,770.4,,123275009|42908004,P28.0,,, 1139,gynatresia,,,D006175,,,,, 1140,angioid_streaks,angioid_streaks,,D000793,,,,, 1141,mitral_valve_stenosis,mitral_stenosis,,D008946,194725005|79619009|155277002,I05.0|I05.2,,, 1142,malignant_conjunctiva_melanoma,,,,255004001,,,, 1143,facial_hemiatrophy,facial_hemiatrophy,,D005150,95834000|29868009,,,, 1144,american_histoplasmosis,,115.0,,187037006|76255006|187046000|187036002,,,, 1145,black_piedra,black_piedra,,D010854,154408001|266218008|402135006|238435009,B36.3,,, 1146,nephronophthisis,nephronophthisis,753.16,,204958008|204957003|204961009|29780007,Q61.5,,Q61.5, 1147,chronic_gonococcal_salpingitis,,098.37,,53529004,,,, 1148,ellis_van_creveld_syndrome,ellis-van_creveld_syndrome,756.55,D004613,62501005,,D004613,Q77.6,62501005 1149,pleomorphic_adenoma,pleomorphic_adenoma,,D008949,8360001,,,, 1150,newborn_respiratory_distress_syndrome,,,D006819,26168007|206281003|46775006,P22|P22.0,,, 1151,infectious_myositis,,728.0,D009220,156719002|29689003|203008007,M60.0,,, 1152,ichthyosis_vulgaris,ichthyosis_vulgaris,,D016112|C531715,205551004|254157005|20512000,Q80.0,,, 1153,richters_syndrome,,,,277550009,,,, 1154,histiocytoid_hemangioma,histiocytoid_hemangioma,,D006391,69159005|189869009|189870005|253054009|125574005|33929001,,,, 1155,posterior_mediastinum_cancer,,164.3,,187888005,C38.2,,, 1156,multiple_epiphyseal_dysplasia,multiple_epiphyseal_dysplasia,756.56,D010009,205504001|59708000,,C535504|C535501|C535505,Q77.3,59708000 1157,cerebral_atherosclerosis,,437.0,D002537,266258005|55382008|195220007,I67.2,,, 1158,bartter_disease,,255.13,D001477,190506003|71275003,,,, 1159,x_linked_ichthyosis,x-linked_ichthyosis,,D016114,254160003|205552006|402771003|72523005,Q80.1,D016114,Q80.1,402771003 1160,verrucous_keratotic_hemangioma,,,,20985003,,,, 1161,subglottic_angioma,,,,,,,, 1162,duodenal_ulcer,duodenal_ulcer,,D004381,39755000,K26|K26.0|K26.1|K26.2|K26.3|K26.4|K26.5|K26.6|K26.7,,, 1163,partial_of_retinal_vein_occlusion,,,,65593009,,,, 1164,friedreich_ataxia,,334.0,D005621,10394003|155011003,,D005621,G11.1,10394003 1165,ataxia_telangiectasia,ataxia_telangiectasia,,D001260,68504005,,D001260,G11.3,68504005 1166,venous_hemangioma,,,,56468002|403968005,,,, 1167,intramuscular_hemangioma,,,D006391,54249004,,,, 1168,myoclonic_cerebellar_dyssynergia,,,D002527,73495003|41009006|192871008,G11.1,,, 1169,hyperprolactinemia,hyperprolactinemia,,D002640|D006966,237662005|21170004|85039006|367422005|190468001,E22.1,,, 1170,benign_shuddering_attacks,,333.93,,,,,, 1171,congenital_aortic_valve_stenosis,,746.3,,18546004|156922005,Q23.0,,Q23.0,18546004 1172,ascariasis,ascariasis,127.0,D001196,187536006|2435008|187172007|271435007|154411000,B77|B77.0|B77.8|B77.9,,, 1173,active_cochleovestibular_menieres_disease,,386.01,,194348002|8535002,,,, 1174,active_vestibular_menieres_disease,,386.03,,194350005|51003001,,,, 1175,active_cochlear_menieres_disease,,386.02,,194349005|21653008,,,, 1176,urethral_syndrome,urethral_syndrome,597.81,D014522,31273004|155893003|266633007|197906006|198551002|197945001|4985009,N36|N37|N34.3|N35.9|N36.8|N36.9,,, 1177,spindle_cell_hemangioma,spindle_cell_hemangioma,,,403967000|134304005|128769003,,,D18.0,128769003|403967000 1178,corneal_staphyloma,,371.73,,193849005|52476003,,,, 1179,acquired_hemangioma,,,,,,,, 1180,lacrimal_duct_cancer,,190.7,,188275003|188274004,C69.5,,, 1181,glomeruloid_hemangioma,glomeruloid_hemangioma,,,403976007,,,, 1182,balanitis_xerotica_obliterans,balanitis_xerotica_obliterans,607.81,,367113004|198033005|43790000|198028006,,,, 1183,central_pterygium,,372.43,,193882008|43300008,,,, 1184,pars_planitis,pars_planitis,363.21,D015868,314428001|193452008|45688009,H30.2,,, 1185,hypercementosis,hypercementosis,521.5,D006936,78537008,K03.4,,, 1186,hernia_of_ovary_and_fallopian_tube,,620.4,,,,,, 1187,hemangioma_of_peripheral_nerve,,,,,,,, 1188,proteus_syndrome,proteus_syndrome,,D016715,394527003|23150001,B96.4,D016715,Q87.3,23150001 1189,cyclosporiasis,cyclosporiasis,007.5,D021866,240372001,,,A07.3, 1190,endemic_typhus,endemic_typhus,,,,,,, 1191,childhood_disintegrative_disease,,299.1,,192584009|71961003|191694008,F29,,F84.3,71961003 1192,thanatophoric_dysplasia,thanatophoric_dysplasia,,D013796,29352008,,,Q77.1, 1193,monilethrix,monilethrix,,D056734,,,D056734,Q84.1, 1194,weill_marchesani_syndrome,,,D056846,,,,, 1195,netherton_syndrome,netherton_syndrome,,D056770,,,,L67.0|Q80.8, 1196,alstrom_syndrome,alstrom_syndrome,,D056769,,,D056769,E66.0|H35.5,63702009 1197,barth_syndrome,barth_syndrome,,D056889,,,D056889,E71.1,297231002 1198,liddle_syndrome,,,D056929,,,D056929,I15.1,71275003 1199,actinobacillosis,actinobacillosis,,D000187,16140007,,,, 1200,prosopagnosia,prosopagnosia,,D020238,18358003,,,, 1201,aneruptive_fever,,,,,,,, 1202,sennetsu_fever,,,,,,,, 1203,bacterial_exanthem,,,,,,,, 1204,trench_fever,trench_fever,083.1,D014205,82214002,A79.0,D014205,A79.0,82214002 1205,early_congenital_syphilis,,,,,,,, 1206,renovascular_hypertension,renovascular_hypertension,,D006978,123799005|194790006,I10-I15|I13.9|I15.0,,, 1207,multinodular_goiter,multinodular_goiter,,,,,,, 1208,laryngeal_tuberculosis,,012.3,D014387,70341005,,,, 1209,gerstmann_syndrome,gerstmann_syndrome,,D005862,36785009,,D005862,,36785009 1210,q_fever,q_fever,083.0,D011778,154375001|86012006|266205000|186788009|260588007|68981009,A78,D011778,A78,186788009|68981009 1211,nelson_syndrome,,,D009347,190503006|43019009,E24.1,D009347,E24.1,43019009 1212,hydronephrosis,hydronephrosis,591,D006869,155866001|197791000|43064006,,,, 1213,diffuse_scleroderma,,,D045743|C536175,128460000|444133002,,,M34.0, 1214,pericardial_tuberculosis,tuberculous_pericarditis,,D010495,67256000,,,, 1215,neurotic_disorder,neurotic_disorders,,D009497|D000275|D003866,111475002|87414006|191748001|154889000|78667006|191740008|268632008|192372006|154881002|192442004|268753005,F48.8|F48.9,,, 1216,parenchymatous_neurosyphilis,,,,,,,, 1217,patent_ductus_arteriosus,patent_ductus_arteriosus,747.0,D004374,253686000|156928009|83330001,Q25.0,,Q25.0, 1218,hereditary_hemorrhagic_telangiectasia,hereditary_hemorrhagic_telangiectasia,448.0,D013683|C538578,21877004|266324004|155449008,I78.0,,I78.0, 1219,nephrogenic_diabetes_insipidus,nephrogenic_diabetes_insipidus,588.1,D018500,111395007|123294004,N25.1,D018500,N25.1,111395007 1220,balantidiasis,balantidiasis,007.0,D001447,57725006|105638003,A07.0,C531629|D001447,A07.0,105638003|56722001|57725006 1221,neurohypophyseal_diabetes_insipidus,,,D020790,267393007|64410003|15771004|190484000|154699008|45369008,,,E23.2, 1222,enterocele,enterocele,618.6,D006547,198272003|47671001|398061002|270884000|198275001,N81.5,,, 1223,complex_partial_epilepsy,,,D017029,193001003|307358009|84340007|361123003|407675009,,,, 1224,shigellosis,shigellosis,004|004.9,D004405,111817006|186104004|55760004|36188001|66301008|154272001|187272003|186108001|34335000|266175007|186105003,A03|A03.0|A03.1|A03.2|A03.3|A03.9,,A03,36188001 1225,aniridia,aniridia,743.45,D015783,69278003|204161008,Q13.1,C538293|D015783,Q13.1,69278003 1226,coloboma,coloboma,,D003103,93390002|92828000,,,, 1227,malignant_tumor_of_undescended_testis,,186.0,,188221009|188219004|188224001|94113004,C62.0,,, 1228,cutaneous_diphtheria,,032.85,,18901009,A36.3,,, 1229,anisometropia,anisometropia,367.31,D015858,3289004,,,, 1230,dislocation_of_ear_ossicle,,385.23,,,,,, 1231,hemophilia_b,hemophilia_b,286.1,D002836,154817006|234443007|41788008,,D002836,D67,41788008 1232,cholecystolithiasis,cholecystolithiasis,,D041761,235919008|266541001|44900007|197376000,,,, 1233,anhidrosis,anhidrosis,705.0,D007007,156414006|201189007|39659002|14662005,L74.4,,, 1234,crimean_congo_hemorrhagic_fever,,065.0,D006479,43489008,A98.0,,A98.0,43489008 1235,miliaria_rubra,miliaria_rubra,705.1,D008883,44279002|267813002|201190003|201197000|201194007|156415007|72658003,L74.0|L74.1,,, 1236,testicular_leukemia,,,,,,,, 1237,femoral_vein_thrombophlebitis,,451.11,,1748006|195410000,I80.1,,, 1238,aqueous_misdirection,,365.83,,,,,, 1239,hypersecretion_glaucoma,,365.81,,29369005,,,, 1240,anogenital_venereal_wart,anogenital_warts,078.11,D003218,154361008|154365004|266113007|186688003|22020001|266198004|123157002|302812006|240542006,A63.0,,, 1241,intrahepatic_gall_duct_cancer,,155.1,,269549003|154471006|187778003|187777008|187775000|187772002|93840005,,,, 1242,atypical_depressive_disorder,,296.82,,191659001|277538003|192371004,,,, 1243,common_wart,,078.1,D014860,186685000|186686004|57019003|154361008|123201004|30285000|266198004|154362001|367507002|75003008,,,, 1244,band_keratopathy,band_keratopathy,371.43,,35055000,,,, 1245,noonan_syndrome,noonan_syndrome,,C531761|D009634,205684007|205824006|88327006|205794007,I42|I43|I42.7|I42.9|I43.8,,, 1246,neonatal_respiratory_failure,,770.84,,95619009|206317005,P28.5,,, 1247,vogt_koyanagi_harada_disease,,364.24|363.22,D014607,44923005|193497004|193453003|47230004,,,H20.8|H30.8,193497004 1248,anal_pagets_disease,,,,,,,, 1249,scrotum_pagets_disease,,,,,,,, 1250,mammary_pagets_disease,,,,,M88.9,D010144,C50.0,2985005|403946000 1251,uterus_carcinoma_in_situ,,233.2,,269492005|189342001,,,, 1252,penis_pagets_disease,,,,255104003|398768004,,,, 1253,lewy_body_dementia,lewy_body_dementia,331.82,D020961,230275004|192808003|80098002|230276003|230277007|312991009,,,, 1254,gallbladder_signet_ring_cell_adenocarcinoma,,,,,,,, 1255,pancreatic_signet_ring_cell_adenocarcinoma,,,,,,,, 1256,bile_duct_signet_ring_cell_carcinoma,,,,,,,, 1257,signet_ring_cell_adenocarcinoma,signet_ring_cell_carcinoma,,D018279,189701002|189702009|87737001,,,, 1258,mixed_connective_tissue_disease,mixed_connective_tissue_disease,,D008947,398021003|398049005|33110008,,D008947,M35.1,398021003 1259,enophthalmos,enophthalmos,376.5|376.50,D015841,267746003|80093006|194031000|155200004,H05.4,,, 1260,cerebritis,cerebritis,,,,,,, 1261,viral_laryngitis,,,,441551009,,,, 1262,plica_syndrome,plica_syndrome,727.83,,,,,, 1263,total_internal_ophthalmoplegia,,367.52,,193630009|86266009,,,, 1264,anal_margin_squamous_cell_carcinoma,,,,255084004,,,, 1265,bile_reflux,bile_reflux,,D001655,,,,, 1266,primary_biliary_cirrhosis,primary_biliary_cirrhosis,,D008105,31712002|155815006|266540000|197311004|1761006,K74.3,,K74.3,31712002 1267,pulp_degeneration,,522.2,,22361007|196335003,K04.2,,, 1268,cascade_stomach,,537.6,,54051005,,,, 1269,allescheriosis,,117.6,,80936003,,,, 1270,serous_glue_ear,,381.1,,81564005|194250007|194245001|155219009,H67|H67.8,,, 1271,complement_factor_i_deficiency,complement_factor_i,,,,,,D84.1, 1272,syndactyly,syndactyly,755.1,D013576,75352001|156989004|373413006|205151006|253975004|111313001|268252004,,,, 1273,hypoparathyroidism,hypoparathyroidism,252.1,D007011,190457001|36976004|154697005|267479004,E20.0,,, 1274,pseudomembranous_conjunctivitis,,372.04,,72115001|267643002|193862009,,,, 1275,eczema_herpeticum,eczema_herpeticum,054.41,,38875006|186544000|52464003|186535001,B00.0,,, 1276,cutaneous_pagets_disease,,,,,,,, 1277,cervix_erosion,,,D002579,156011009|266662008|61253004,,,, 1278,hailey_hailey_disease,,,D016506,,,,Q82.8, 1279,nonepidermolytic_palmoplantar_keratoderma,,,D015776,,,,Q82.8, 1280,xeroderma_pigmentosum,xeroderma_pigmentosum,,D014983,,,,, 1281,stevens_johnson_syndrome,stevens-johnson_syndrome,,D013262,,,,, 1282,restless_legs_syndrome,restless_legs_syndrome,,D012148,,,,, 1283,medulloadrenal_hyperfunction,,255.6,,111565003,,,, 1284,cutaneous_leishmaniasis,cutaneous_leishmaniasis,,D016773,240637006,B55.1,,, 1285,familial_adenomatous_polyposis,familial_adenomatous_polyposis,,D011125,,,D005736,D12.6,60876000 1286,granuloma_inguinale,granuloma_inguinale,099.2,D006100,28867007|186947000,A58,,, 1287,testicular_lymphoma,,,,277664004,,,, 1288,cushings_syndrome,cushings_syndrome,255.0,D003480,154705004|190505004|47270006,E24.3,D000308|D003480,E24,275437005|47270006 1289,hard_palate_cancer,,145.2,,93822006|363387004,C05|C05.0,,, 1290,inappropriate_adh_syndrome,inappropriate_adh_syndrome,,D007177,55004003|389983008,E22.2,,, 1291,visceral_leishmaniasis,visceral_leishmaniasis,085.0,D007898,48115004|186803007,B55|B55.0|B55.9,,, 1292,fatal_familial_insomnia,fatal_familial_insomnia,,D034062,,,D034062,A81.8,83157008 1293,sipple_syndrome,sipple_syndrome,,D018813,,,,, 1294,xeroderma_of_eyelid,,373.33,,55846006,,,, 1295,nephrogenic_adenofibroma,,,,128760004,,,, 1296,arrhythmogenic_right_ventricular_dysplasia,,,D019571,,,,, 1297,buruli_ulcer_disease,buruli_ulcer,,D054312,,,,, 1298,sertoli_cell_only_syndrome,sertoli_cell-only_syndrome,,D054331,,,C536297,Q98.6, 1299,periventricular_nodular_heterotopia,,,D054091,,,,, 1300,wiskott_aldrich_syndrome,wiskott-aldrich_syndrome,279.12,C538675|D014923,36070007,D82.0,D014923,D82.0,36070007 1301,inclusion_body_myositis,inclusion_body_myositis,359.71,D018979,72315009,,,M60.8, 1302,wolf_hirschhorn_syndrome,,,D054877,,Q93.3,C536740|D054877,Q93.3,17122004 1303,idiopathic_granulomatous_myositis,,,,,,,, 1304,trochlear_nerve_neoplasm,,,,126970001,,,, 1305,lymphangiosarcoma,lymphangiosarcoma,,D008204,63373002|62497000|403986008,,,, 1306,hereditary_mucosal_leukokeratosis,hereditary_leukokeratosis_of_mucosa,,D053529,,,,Q38.6,389203001 1307,pachyonychia_congenita,pachyonychia_congenita,,D053549,,,D053549,Q84.5,39427000 1308,infantile_refsum_disease,,,D052919,,,,, 1309,intracystic_papillary_adenoma,,,,47488001,,,, 1310,x_linked_hypophosphatemia,x-linked_hypophosphatemia,,D053098,,,,E83.3, 1311,ossifying_fibromyxoid_tumor,,,,404076001|128745002,,,, 1312,familial_partial_lipodystrophy,familial_partial_lipodystrophy,,D052496,,,,E88.1, 1313,liver_carcinoma_in_situ,,230.8,,189247009|271525004|189241005,D01.5,,, 1314,mucosulfatidosis,mucosulfatidosis,,D052517,,,,E75.2, 1315,stomach_carcinoma_in_situ,,230.2,,189223002|92756002,D00.2,,, 1316,frasier_syndrome,frasier_syndrome,,D052159,,,D052159,N04.1,445431000 1317,usher_syndrome,usher_syndrome,,D052245,,,,, 1318,mulibrey_nanism,mulibrey_nanism,,D050336,,,C538604|D050336,Q04.3|Q87.1,81604003 1319,danon_disease,danon_disease,,D052120,,,,E74.0, 1320,gas_gangrene,gas_gangrene,040.0,D005738,186407003|276198000|186413007|80466000,R02|A48.0,,, 1321,myoma,myoma,,D009214|D009379,66357004|92237006|115228006|134329004|189786009|189801005|126616000,D10-D36,,, 1322,asperger_syndrome,asperger_syndrome,,D020817,,F84.5,,, 1323,andersen_tawil_syndrome,,,D050030,,,,G72.3, 1324,gitelman_syndrome,gitelman_syndrome,,D053579,,,D053579,N15.8,3188003 1325,achalasia,achalasia,530.0,D004931,45564002|155672003|235630008|17460002,K22.0,,, 1326,brugada_syndrome,brugada_syndrome,,D053840,,,,, 1327,neurotic_excoriation,neurotic_excoriation,698.4,,27720003|156384004|402736003,L98.1,,, 1328,mevalonic_aciduria,mevalonic_aciduria,,D054078,,,D054078,E88.8,124327008 1329,lissencephaly,lissencephaly,,D054082,,,,, 1330,cystic_nephroma,cystic_nephroma,,,,,,, 1331,juvenile_myelomonocytic_leukemia,juvenile_myelomonocytic_leukemia,,D054429,,C93.3,D054429,C93.3,128832006|277587001|445227008 1332,hyperphosphatemia,hyperphosphatemia,,D054559,,,,, 1333,dysembryoplastic_neuroepithelial_tumor,dysembryoplastic_neuroepithelial_tumor,,,128788005,,,, 1334,adult_mesoblastic_nephroma,,,,388985009,,,, 1335,donohue_syndrome,donohue_syndrome,,D056731,,,,E34.8,111307005 1336,carotid_artery_thrombosis,,,D002341,86003009|195181000,,,, 1337,alpha_mannosidosis,alpha-mannosidosis,,D008363,124466001|65524005,,,, 1338,carney_complex,carney_complex,,D056733,,,D056733,D44.8,239132009 1339,glossopharyngeal_nerve_neoplasm,,,,126975006,,,, 1340,dengue_hemorrhagic_fever,,,D019595,186599009|186598001|20927009,A91,,, 1341,spinal_canal_intradural_extramedullary_neoplasm,,,,,,,, 1342,ethmoid_sinus_adenoid_cystic_carcinoma,,,,,,,, 1343,bladder_carcinoma_in_situ,,233.7,,269650008|92546004,D09.0,,, 1344,ethmoid_sinus_squamous_cell_carcinoma,,,,,,,, 1345,bone_carcinoma,,,D001859,269568000|126537000|240201007|115239009,,,, 1346,transient_tic_disorder,,307.21,D013981,56573006|192622000,F95.0,,, 1347,ethmoid_sinus_adenocarcinoma,,,,,,,, 1348,costello_syndrome,costello_syndrome,,D056685,,,D056685,Q87.8,309776008 1349,benign_mesenchymoma,,,,38406003,,,, 1350,pacinian_tumor,,,,4230004|404033003,,,, 1351,aspartylglucosaminuria,aspartylglucosaminuria,,D054880,,,C538402|D054880,E77.1,54954004 1352,variola_minor,variola_minor,050.1,D012899,72294005,,,, 1353,antley_bixler_syndrome,,,D054882,,,C537780,Q87.0,62964007 1354,campomelic_dysplasia,campomelic_dysplasia,,D055036,,,D055036,Q87.1,74928006 1355,farber_lipogranulomatosis,,,D055577,,,C537075|D055577,E75.2,79935000 1356,muir_torre_syndrome,,,D055653,,,D055653,C18|D23,403824007 1357,filarial_elephantiasis,,,D004605,240820001|240825006|91586009,,,B74.1|B74.2|B74.0,240820001 1358,loeys_dietz_syndrome,,,D055947,,,,, 1359,erythrokeratodermia_variabilis,erythrokeratodermia_variabilis,,D056266,,,,, 1360,mucocutaneous_leishmaniasis,,085.4|085.5,D007897,403135004|186809006|266122008|39625001|77327004|186810001,B55.2,,, 1361,myoepithelioma,myoepithelioma,,D009208,69291002,,,, 1362,yellow_nail_syndrome,yellow_nail_syndrome,,D056684,,L60.5,,L60.5, 1363,pityriasis_versicolor,pityriasis_versicolor,111.0,D014010,56454009|154395007,B36.0,,, 1364,diaper_rash,diaper_rash,691.0,D003963,91487003|402275006|238582000,,,, 1365,glycogen_storage_disease_iii,,,D006010,124472001|66937008|124474000,,,, 1366,adenosquamous_bile_duct_carcinoma,,,,,,,, 1367,adenosquamous_breast_carcinoma,,,,,,,, 1368,ampulla_of_vater_adenosquamous_carcinoma,,,,,,,, 1369,adenosquamous_gallbladder_carcinoma,,,,,,,, 1370,thymus_adenosquamous_carcinoma,,,,,,,, 1371,esophageal_adenosquamous_carcinoma,,,,,,,, 1372,adenosquamous_colon_carcinoma,,,,,,,, 1373,ritters_disease,,695.81,D013206,367537006|200946001|87758007,L00,,L00, 1374,lethal_midline_granuloma,lethal_midline_granuloma,446.3,D006103,58961005,M31.2,,, 1375,glycogen_storage_disease_i,,,D005953,154738008|124134002|124437004|7265005|267498002|62403005,,,, 1376,narcissistic_personality_disorder,narcissistic_personality_disorder,301.81,D010554,80711002|192493008,,,, 1377,pyeloureteritis_cystica,,590.3,,197776002|266555009|37779008|155864003,,,, 1378,discoid_lupus_erythematosus_of_eyelid,,373.34,,79291003,L93.0,,, 1379,glycogen_storage_disease_v,glycogen_storage_disease_type_v,,D006012,55912009,,C537276|D006012,E74.0,55912009 1380,systemic_lupus_erythematosus,systemic_lupus_erythematosus,710.0,D008180,156450004|201435004|55464009|201439005,M32|M32.1,,, 1381,malignant_giant_cell_tumor_of_soft_parts,,,,48460009,,,, 1382,adenosquamous_prostate_carcinoma,,,,,,,, 1383,endometrial_adenosquamous_carcinoma,,,,,,,, 1384,bartholins_gland_adenosquamous_carcinoma,,,,,,,, 1385,adenosquamous_pancreas_carcinoma,,,,,,,, 1386,macroglobulinemia,macroglobulinemia,273.3,D008258,,,,, 1387,optic_nerve_sheath_meningioma,optic_nerve_sheath_meningioma,,,254978007,,,, 1388,gastric_adenosquamous_carcinoma,,,,,,,, 1389,glycogen_storage_disease_ii,glycogen_storage_disease_type_ii,,D006009,76219003|237968007|190741002|267424007|237967002|124454007|124462004,,D006009,E74.0,124454007|124462004|237967002|237968007 1390,mycobacterium_avium_complex_disease,mycobacterium_avium_complex,,D015270,14009004|373436002,,,, 1391,glycogen_storage_disease_vi,glycogen_storage_disease_type_vi,,D006013,29291001|237971004,,,E74.0, 1392,blastoma,blastoma,,,,,,, 1393,hemopneumothorax,hemopneumothorax,,D006468,16632002,,,, 1394,rem_sleep_behavior_disorder,rem_sleep_behavior_disorder,327.42,D020187,415238003,,,, 1395,acrodermatitis,acrodermatitis,,D000169,8197001,,,, 1396,esophagus_carcinoma_in_situ,,230.1,,189217007|308860001|92585006,,,, 1397,erythematosquamous_dermatosis,,690,,54792008|200762004|200768000,,,, 1398,tricuspid_valve_prolapse,,,D014263,253383003,,D014263,Q22.8,253383003 1399,urethral_villous_adenoma,,,,,,,, 1400,localized_pulmonary_fibrosis,,,,233726000,,,, 1401,diffuse_pulmonary_fibrosis,,,,,,,, 1402,ampullary_signet_ring_cell_adenocarcinoma,,,,,,,, 1403,breast_signet_ring_cell_adenocarcinoma,,,,,,,, 1404,prostate_signet_ring_cell_adenocarcinoma,,,,,,,, 1405,dermatofibrosarcoma,dermatofibrosarcoma,,D018223|C538219,134160009|76594008|276799004|302844005,,,, 1406,choroid_plexus_carcinoma,choroid_plexus_carcinoma,,D016545,188292007|88252006|254942002,,,, 1407,stricture_or_kinking_of_ureter,,593.3,,,N13.5,,, 1408,glycogen_storage_disease_viii,glycogen_storage_disease_type_viii,,D006015,41527003|297255007,,,, 1409,parapsoriasis,parapsoriasis,696.2,D010267,200979001|200980003|267851002|200991005|88233000|156371008,L41|L41.9,,, 1410,glycogen_storage_disease_iv,glycogen_storage_disease_type_iv,,D006011,190742009|124267007|11179002,,,E74.0, 1411,anal_carcinoma_in_situ,,230.6,,401311008|189233005|92537005|20365006,,,, 1412,breast_angiomatosis,,,,,,,, 1413,cellular_myxoid_liposarcoma,,,,43296007|404070007,,,C49,404070007|43296007 1414,adult_liposarcoma,,,,,,,, 1415,larynx_liposarcoma,,,,,,,, 1416,pediatric_liposarcoma,,,,,,,, 1417,esophagus_liposarcoma,,,,,,,, 1418,kidney_liposarcoma,,,,,,,, 1419,breast_myofibroblastoma,,,,,,,, 1420,fibroblastic_liposarcoma,,,,128883006,,,, 1421,dental_pulp_calcification,,,D003784,57602001,,,, 1422,breast_medullary_carcinoma,,,,,,,, 1423,acute_t_cell_leukemia,,,D015459,77430005|110007008|188729005,,,, 1424,mushroom_workers_lung,,495.5,D005203,52333004,J67.5,,, 1425,t_cell_adult_acute_lymphocytic_leukemia,,,,,,,, 1426,sick_building_syndrome,sick_building_syndrome,,D018877,19076009,,,, 1427,bloom_syndrome,,,D001816,4434006,,D001816,Q87.1|Q99.8,4434006 1428,nodular_tenosynovitis,,,,5178002|95413004|71508003,,,, 1429,pigmented_villonodular_synovitis,pigmented_villonodular_synovitis,,D013586,71508003|95412009|202903009,,D013586,,95412009 1430,mucinous_adenofibroma,,,,10705005,,,, 1431,malignant_giant_cell_tumor_of_the_tendon_sheath,,,,128778009,,,, 1432,dyskeratosis_congenita,dyskeratosis_congenita,,D019871,74911008,,C536068,D61.0, 1433,hajdu_cheney_syndrome,hajdu-cheney_syndrome,,D031845|C531695,27201004|63122002,,C531695|C535663|D031845,M89.5,63122002 1434,gilbert_syndrome,gilberts_syndrome,,D005878,27503000|154770008|267509000,E80.4,,, 1435,rothmund_thomson_syndrome,rothmund-thomson_syndrome,,D011038,205565002|205572001|69093006,,D011038,Q82.8,69093006 1436,skin_atrophy,skin_atrophy,,,156391001|16343004|399979006|267857003|400190005|201090001,L90.9,,, 1437,chiasmal_syndrome,chiasmal_syndrome,377.5,,194061008|70476006,H47.4,,, 1438,breast_leiomyoma,,,,,,,, 1439,intraductal_papilloma,intraductal_papilloma,,D018300,5244003,,,, 1440,benign_eccrine_breast_spiradenoma,,,,,,,, 1441,male_breast_cancer,,175.9,,126937006,,,, 1442,hypoglycemic_coma,,251.0,,267476006|267384006|190428000|154692004|71898001|190430003,,,, 1443,benign_breast_adenomyoepithelioma,,,,,,,, 1444,breast_adenomyoepithelioma,,,,,,,, 1445,female_breast_upper_inner_quadrant_cancer,,174.2,,188152004,,,, 1446,female_breast_lower_inner_quadrant_cancer,,174.3,,188153009,,,, 1447,benign_breast_phyllodes_tumor,,,D003557,71232009|269651007|16566002|189825002|189505009|154641007,,,, 1448,central_nervous_system_tuberculosis,,013.2|013.20,D016862,416265003|40769007,,,, 1449,skeletal_tuberculosis,,015|015.9,D014394,17653001|266084009|154287006|186229002|186234003,,,, 1450,low_implantation_of_placenta,,641.0,,198902005|198897009|7792000|156099007|198898004,,,, 1451,spontaneous_tension_pneumothorax,,512.0,,196102003|76537003,J93.0,,, 1452,behcets_syndrome_arthropathy,,711.20|711.2,,201494002|201484007|62918002|267884002,,,, 1453,lipid_rich_carcinoma,,,,3839000|189655006,,,, 1454,sweat_gland_carcinoma,,,,254708001|254707006|32272007|188083002|255095005|359719004,,,, 1455,chronic_interstitial_cystitis,interstitial_cystitis,595.1,D018856,197834003|44497007|197838000|111409009,N30.1,D018856,N30.1, 1456,serous_labyrinthitis,,386.31,,41674001,,,, 1457,atheroembolism_of_kidney,,,,,,,, 1458,werner_syndrome,werner_syndrome,,D014898,190592007|190590004|51626007,,D014898,E34.8,51626007 1459,hereditary_breast_ovarian_cancer,,,,,,,, 1460,sponastrime_dysplasia,,,,,,,Q77.7,389161008 1461,comedo_carcinoma,comedo_carcinoma,,,189709000|36425007,,,, 1462,female_breast_axillary_tail_cancer,,174.6,,188156001|93685009,,,, 1463,nerve_fibre_bundle_defect,,362.85,,193428001|87194000,,,, 1464,cribriform_carcinoma,,,D000230,30156004,,,, 1465,neovascular_glaucoma,,,D015355,314785001|232086000|193564003,,D015355,,232086000 1466,lymphoepithelioma_like_carcinoma,lymphoepithelioma-like_carcinoma,,,7300000,,,, 1467,pleomorphic_carcinoma,,,,16741004,,,, 1468,otosclerosis,otosclerosis,387.8,D010040,194382008|194691004,H80|H80.9,,, 1469,cystic_fibrosis,cystic_fibrosis,277.0,D003550,190911006|154767009|85809002|190905008,E84|E84.0|E84.1|E84.8,D003550,E84,190905008 1470,postsurgical_hypothyroidism,,244.0,,190275002|27059002|154662008,,,, 1471,benign_migratory_glossitis,benign_migratory_glossitis,529.1,D005929,59032001|266496009|155667007,K14.1,,, 1472,retinal_lattice_degeneration,,362.63,,3577000,,,, 1473,blessigs_cysts,,362.62,,37075008,,,, 1474,secondary_vitreoretinal_degeneration,,362.66,,193397003|60676002,,,, 1475,chronic_rapidly_progressive_glomerulonephritis,,582.4,,197614002,,,, 1476,cobblestone_retinal_degeneration,,362.61,,69134001,,,, 1477,idiopathic_corneal_edema,,371.21,,1794009|193813009,,,, 1478,carpal_tunnel_syndrome,carpal_tunnel_syndrome,354.0,D002349,155073007|57406009|246611002|193126005,G56.0,,, 1479,contact_lens_corneal_edema,,371.24,,193816001|49362009,,,, 1480,ulnar_nerve_lesion,lesion_of_ulnar_nerve,354.2,,298121002|267599007|193132000|55802003|367475009|359834003|193136002,G56.2,,, 1481,splenic_flexure_cancer,,153.7,,154461009|363413005|269540004|94072004,C18.5|C26.1,,, 1482,major_depressive_disorder,major_depressive_disorder,296.30|296.20|296|296.3,,66344007|36923009|191607007|191599006|191600009|191608002|191617002|268621008|268620009|192366006|191609005,,,, 1483,aggressive_periodontitis,aggressive_periodontitis,,D010520,49965002|2624008,,,, 1484,punctate_epithelial_keratoconjunctivitis,,370.21,,42513006|267634006|193767008|416069001,,,, 1485,intestinal_schistosomiasis,intestinal_schistosomiasis,120.2,D012554,187114003|52179003|750009|268058007|6421008|268981007|240788003,,,, 1486,glycogen_storage_disease_ix,,,,,,,, 1487,common_variable_immunodeficiency,,279.06,D017074,191010004|23238000,,,, 1488,bullous_keratopathy,bullous_keratopathy,371.23,,193815002|57207003,H18.1,,, 1489,senile_reticular_retinal_degeneration,,362.64,,54184008,,,, 1490,secondary_corneal_edema,,371.22,,193814003|27536004,,,, 1491,pseudoretinitis_pigmentosa,,362.65,,193396007|35545005,,,, 1492,radial_nerve_lesion,lesion_of_radial_nerve,354.3,D020425,16644004|193137006|193140006,G56.3,,, 1493,pinguecula,pinguecula,372.51,,155169006|87614000|267735001,,,, 1494,pseudopterygium,,372.52,,66139007,,,, 1495,dyshormonogenic_goiter,,246.1,,190304001,,,, 1496,feltys_syndrome,,714.1,D005258,156482001|57160007,M05.0,D005258,M05.0,57160007 1497,cholera,cholera,001.9|001.0|001,D002771,186089005|63650001|187267007|186088002|186087007|154269008|61972007,A00|A00.0|A00.1|A00.9,D002771,A00,63650001 1498,gastroschisis,gastroschisis,756.73,D020139,72951007,Q79.3,D020139,Q79.3,72951007 1499,cystic_echinococcosis,,122.4,,75006000|187138004,B67.1|B67.4|B67.7,,, 1500,arachnoiditis,arachnoiditis,,D001100,267681007|154986008|8217007,,D001100,,8217007 1501,lymphocytic_choriomeningitis,lymphocytic_choriomeningitis,,D008216,38666007|397961002|192668002|276817007|398136003|276064006|186495001,A87.2,,, 1502,gestational_trophoblastic_neoplasm,gestational_trophoblastic_neoplasms,630,D006828,417044008|416441004|123300001|156085008|48430004|417475006|198611007|44782008|416402001|198610008|189856005|235323008|5759005|236118006|237251001|367455000|41491009,O01|O01.0,D031901|D006828,O01.0|O01,416441004|417475006|48430004 1503,dysthymic_disorder,dysthymic_disorder,300.4,D019263,192384008|78667006,F34.1,,, 1504,detrusor_sphincter_dyssynergia,detrusor_sphincter_dyssynergia,596.55,,236655005,,,, 1505,anorectal_stricture,,569.2,C537771,197216007|197218008|155803007|68627009,K62.4,,, 1506,low_compliance_bladder,,596.52,,9009001,,,, 1507,chagas_disease,chagas_disease,086.2,,186817003|54570006,B57|B57.2|B57.3|B57.4|B57.5,,B57, 1508,neurogenic_bladder,neurogenic_bladder,596.54,D001750,155032006|23201000|197883004|397732007|192972000|398064005,,,, 1509,depersonalization_disorder,depersonalization_disorder,300.6,D003861,70764005,,,, 1510,dissociative_amnesia,dissociative_amnesia,300.12,D000647,192420000|84209002|191716000,F44.0,,, 1511,aseptic_meningitis,aseptic_meningitis,,D008582,186490006|301770000|58170007,,,, 1512,alveolar_echinococcosis,alveolar_echinococcosis,122.7,,21009004|240816000,,C536591,B67.5|B67.6|B67.7, 1513,placental_site_trophoblastic_tumor,placental_site_trophoblastic_tumor,,D018245,75320001|237252008,,D018245,D39.2,237252008|75320001 1514,epithelioid_trophoblastic_tumor,,,,128767001,,,, 1515,pancreatic_ductal_carcinoma,pancreatic_ductal_carcinoma,157.3,,187793004|93939009,C25|C25.3,,, 1516,pulmonary_alveolar_microlithiasis,,516.2,,87153008|196160008,,,J84.0,87153008 1517,discrete_subaortic_stenosis,,,D021922,,,,, 1518,sudden_infant_death_syndrome,sudden_infant_death_syndrome,798.0,D013398,207538008|207534005|207535006|207671002|51178009|158718001|207536007,,,, 1519,psoriatic_arthritis,psoriatic_arthritis,696.0,D015535,156370009|200959009|33339001,L40.5,,, 1520,stork_bite,stork_bite,,,,,,, 1521,hemosiderosis,hemosiderosis,,D006486,39011001|190849009,,,, 1522,postinflammatory_pulmonary_fibrosis,,515,,57124002|196121006|266368002,,,, 1523,familial_nephrotic_syndrome,,,,197602005|48796009,,,, 1524,brown_induration,brown_induration,516.1,C536281,190848001|40527005,,C536281,E83.1+|J99.8*,40527005 1525,charcot_marie_tooth_disease_type_1,,,,,,,G60.0, 1526,posterior_polar_cataract,,,,,H26.8|H26.9|H28.2,,, 1527,sc_phocomelia_syndrome,,,,,,,, 1528,exudative_vitreoretinopathy,,,,,,D012178,H35.1,415297005 1529,charcot_marie_tooth_disease_type_2,,,,,,,, 1530,intermediate_spinal_muscular_atrophy,,,,,,,, 1531,pulmonary_alveolar_proteinosis,pulmonary_alveolar_proteinosis,516.0,D011649,10501004,,,, 1532,glottis_neoplasm,,,,126693009,,,, 1533,brucella_suis_brucellosis,,,,,,,, 1534,congenital_stationary_night_blindness,congenital_stationary_night_blindness,,,,,,, 1535,episcleritis_periodica_fugax,,379.01,,31166000|194141004,,,, 1536,neurotrophic_keratoconjunctivitis,,370.35,,77080005|193777005,,,, 1537,leech_infestation,leech,134.2,,154423006|64351000|266225001,,,, 1538,lateral_sinus_thrombosis,,,D020227,21258007|192761004,,,, 1539,testicular_gonadoblastoma,,,,,,,, 1540,sagittal_sinus_thrombosis,sagittal_sinus_thrombosis,,D020225,192760003|70607008,,,, 1541,cavernous_sinus_thrombosis,cavernous_sinus_thrombosis,,D020226,89980009,,,, 1542,ovarian_gonadoblastoma,,,,,,,C56, 1543,sertoli_cell_tumor,sertoli_cell_tumor,,D012707,89089007|128857001|189738002,,,, 1544,charcot_marie_tooth_disease_type_x,,,,,,,, 1545,factor_viii_deficiency,,286.0,D006467,28293008|234440005,,D006467,D66,28293008|234440005 1546,asphyxia_neonatorum,asphyxia_neonatorum,768.9,D001238,413654009|268873007|268831004|157098009|28314004|206278008,P21|R09.0,,, 1547,hypermethioninemia,hypermethioninemia,,,,,,E72.1, 1548,bulimia_nervosa,bulimia_nervosa,,D002032,192447005|78004001|192013000|206939001,F50.2,,, 1549,rhizomelic_chondrodysplasia_punctata,rhizomelic_chondrodysplasia_punctata,,D018902,56692003,,,, 1550,pica_disease,,307.52,D010842,154938001|14077003|268779001,,,, 1551,acatalasia,acatalasia,,D020642,267454002|111393000|124202004|190954001,,,E80.3,267454002 1552,charcot_marie_tooth_disease_intermediate_type,,,,,,,, 1553,charcot_marie_tooth_disease_type_3,,,,,,C538392,G60.0,111499002 1554,wegeners_granulomatosis,,446.4,D014890,239934006|155445002|195353004|266323005|390001000|23782005,M31.3,D014890,M31.3,195353004|239934006 1555,charcot_marie_tooth_disease_type_4,,,,,,,G60.0, 1556,familial_medullary_thyroid_carcinoma,familial_medullary_thyroid_carcinoma,,,,,,, 1557,congenital_adrenal_insufficiency,,,,,,,Q56.1, 1558,saldino_noonan_syndrome,,,,,,,Q77.2, 1559,meconium_aspiration_syndrome,meconium_aspiration_syndrome,,D008471,85779008|278927005|157110000|206292002|14608006,P24.0|P24.9|P54.9|P58.9|P59.9|P96.1,D008471,P24.0,206292002 1560,spinal_polio,,,,,,,, 1561,bulbospinal_polio,,,,,,,, 1562,pasteurellosis,pasteurellosis,027.2,D010326,266086006|276199008|83172007|186328008,A28.0,,, 1563,superior_mesenteric_artery_syndrome,superior_mesenteric_artery_syndrome,,D013478,197006009|24988007,,,, 1564,bullous_retinoschisis,,361.12,,65545003,,,, 1565,pseudomyxoma_peritonei,pseudomyxoma_peritonei,,D011553,307601000|112679004,,D011553,C78.6,112679004|307601000 1566,inflammatory_spondylopathy,,720.81,,6963001|202652006,M46.8,,, 1567,balkan_hemorrhagic_fever,,,,,,,, 1568,onyongnyong_fever,,,,,A92.1,,, 1569,barmah_forest_virus_disease,,,,,,,, 1570,ross_river_fever,,,,,B33.1,,, 1571,adult_t_cell_leukemia,,,,,C91.5,D015459,C91.5,110007008|188729005|77430005 1572,nonphotosensitive_trichothiodystrophy,nonphotosensitive_trichothiodystrophy,,,,,,, 1573,maturity_onset_diabetes_of_the_young,,,,,,,, 1574,familial_hypertriglyceridemia,familial_hypertriglyceridemia,,,,,,, 1575,oropouche_fever,oropouche_fever,,,,A93.0,,, 1576,adult_spinal_muscular_atrophy,,,,,,,G12.1, 1577,occult_macular_dystrophy,,,,,,,H35.5, 1578,d_2_hydroxyglutaric_aciduria,,,,,,,E72.8, 1579,senior_loken_syndrome,,,,,,,, 1580,glycogen_storage_disease_xv,,,,,,,E74.0, 1581,relapsing_polychondritis,relapsing_polychondritis,,D011081,85780006|72275000|111256009,M94.1,D011081,M94.1,72275000 1582,atypical_choroid_plexus_papilloma,,,,128904001,,,, 1583,childhood_choroid_plexus_cancer,,,,,,,, 1584,adult_choroid_plexus_cancer,,,,,,,, 1585,brachydactyly,brachydactyly,,,,,,, 1586,hereditary_lymphedema,hereditary_lymphedema,,,,,,Q82.0, 1587,tactile_epilepsy,,,,230449001,,,, 1588,sensenbrenner_syndrome,sensenbrenner_syndrome,,,,,,Q87.5, 1589,granulomatous_angiitis,,,D020293,,,,, 1590,l_2_hydroxyglutaric_aciduria,,,,,,,E72.8, 1591,polyp_of_corpus_uteri,,621.0,,11314008|266659005|418632009,N84.0,,, 1592,congenital_disorder_of_glycosylation_type_ii,,,,,,,, 1593,uterine_cervix_leukoplakia,,622.2,,50923006,N88.0,,, 1594,cone_rod_dystrophy,,,,,,,, 1595,lafora_disease,lafora_disease,,D020192,230425004,,,, 1596,chronic_wasting_disease,chronic_wasting_disease,,D034081,,,,, 1597,unverricht_lundborg_syndrome,unverricht-lundborg_syndrome,,C536097|D020194,230424000|230423006|89480000|192844008|192847001,,D020194,G40.3,230423006 1598,severe_congenital_neutropenia,,,,,D70,C537592,D70,89655007 1599,asphyxiating_thoracic_dystrophy,,,,,,,, 1600,tooth_agenesis,,,,,,,, 1601,letterer_siwe_disease,,202.5,C538636|C538580,236957004|269628007|366059005|188654004|67574008|118614007|154583006|128812005|188659009|188655003,,C538636,C96.0,118614007|128812005 1602,trichotillomania,trichotillomania,,,,F63.3,,, 1603,muscular_dystrophy_dystroglycanopathy,,,,,,,, 1604,gummatous_syphilis,,,,,,,, 1605,extratemporal_epilepsy,,,,111498005,,,, 1606,congenital_generalized_lipodystrophy,,,,,,,, 1607,parotid_gland_cancer,,142.0,D010307,93949007|363379000,C07,,, 1608,spondylocostal_dysostosis,spondylocostal_dysostosis,,,,A64,,, 1609,neurofibrosarcoma,neurofibrosarcoma,,D018319,19897006|404037002,,,, 1610,congenital_disorder_of_glycosylation_type_i,,,,,,,, 1611,adult_fibrosarcoma,,,,,,,, 1612,conventional_fibrosarcoma,,,,,,,, 1613,infantile_onset_spinocerebellar_ataxia,,,,,,C537307,G11, 1614,intestine_carcinoma_in_situ,,230.7,,190172008,D01.4,,, 1615,malignant_histiocytic_disease,,,D015620,127070008,,,, 1616,jmp_syndrome,,,,,,,, 1617,x_linked_sideroblastic_anemia_with_ataxia,,,,,D64.0,,, 1618,sugio_kaji_syndrome,,,,,,,, 1619,esophageal_leukoplakia,,530.83,,89057003,,,, 1620,barbiturate_dependence,,304.11,,,,,, 1621,fukuyama_congenital_muscular_dystrophy,,,,,,,, 1622,ullrich_congenital_muscular_dystrophy,,,,,,,G71.2,240062007 1623,lateral_medullary_syndrome,,,D014854,78569004|195193009,,,, 1624,middle_cerebral_artery_infarction,,,D020244,,,,, 1625,anterior_cerebral_artery_infarction,,,D020243,,,,, 1626,central_core_myopathy,,,D020512,43152001,,,G71.2, 1627,distal_hereditary_motor_neuropathy,,,,,,,G12.2, 1628,retinal_drusen,,362.57,D015593,247153005|141199000|163999003,,,, 1629,west_syndrome,west_syndrome,,,,,,, 1630,lennox_gastaut_syndrome,,,,,,,, 1631,larynx_carcinoma_in_situ,,231.0,,189261004|92634009,D02.0,,, 1632,macular_corneal_dystrophy,,371.55,D003317,60258001,,,H18.5,60258001 1633,suppurative_periapical_periodontitis,,,D010482,34597006|196341005|109603007,K04.6|K04.7,,, 1634,walker_warburg_syndrome,,,,,,,, 1635,x_linked_nonsyndromic_deafness,,,,,,,, 1636,autosomal_recessive_nonsyndromic_deafness,,,,,,,, 1637,autosomal_dominant_nonsyndromic_deafness,,,,,,,, 1638,morphine_dependence,,,D009021,286934009|191817000|231479000,,,, 1639,choroid_plexus_papilloma,choroid_plexus_papilloma,,D020288,18021007|189911002,,D020288,D33.0,18021007 1640,breast_mucinous_cystadenocarcinoma,,,,,,,, 1641,uterine_corpus_serous_adenocarcinoma,,,,,,,, 1642,cervical_serous_adenocarcinoma,,,,,,,, 1643,pancreatic_serous_cystadenocarcinoma,,,,,,,, 1644,endocervicitis,,,,31354001|266654000|198201006|155980007,,,, 1645,epidural_spinal_canal_angiolipoma,,,,,,,, 1646,acute_retinal_necrosis_syndrome,acute_retinal_necrosis,,D015882,231986000,,,, 1647,kallmann_syndrome,kallmann_syndrome,,C535545|D017436,190559001|93559003|33927004,,,, 1648,canavan_disease,canavan_disease,,D017825,80544005,,D017825,E75.2,80544005 1649,papillary_serous_adenocarcinoma,,,,15674004|90282004,,,, 1650,infiltrating_angiolipoma,,,,189781004|24045002,,,, 1651,ovarian_brenner_tumor,brenner_tumor,,D001948,74739000|189819001|189818009|254859006,,,, 1652,breast_pericanalicular_fibroadenoma,,,,41382006,,,, 1653,sebaceous_breast_carcinoma,,,,,,,, 1654,cystadenoma,cystadenoma,,D003537,189680006|47620003,,,, 1655,vulvar_sebaceous_carcinoma,,,,,,,, 1656,hilar_lung_neoplasm,,,,126707007,,,, 1657,pulmonary_sclerosing_hemangioma,,,D047868,,,,, 1658,lung_meningioma,,,,,,,, 1659,lung_clear_cell_sugar_tumor,,,,,,,, 1660,salpingitis_isthmica_nodosa,salpingitis_isthmica_nodosa,,,36742000,,,, 1661,pyosalpinx,pyosalpinx,,,155974004|397810006|266651008|35263009|9400007,,,, 1662,chondroblastoma,chondroblastoma,,D002804,189887007|134337007|9001003,,,, 1663,sebaceous_adenoma,sebaceous_adenoma,,,78424008,,,, 1664,perivascular_epithelioid_cell_tumor,perivascular_epithelioid_cell_tumor,,D054973,388601000,,,, 1665,verruciform_xanthoma_of_skin,,,,66174008|254756007|402477000,,,, 1666,ovarian_mucinous_adenocarcinoma,,,,,,,, 1667,rheumatic_pulmonary_valve_disease,,397.1,,194747005|18687009|266283005,M79.0,,, 1668,uterine_ligament_serous_adenocarcinoma,,,,,,,, 1669,appendix_mucinous_cystadenocarcinoma,,,,,,,, 1670,ovarian_serous_cystadenocarcinoma,,,,,,,, 1671,toxic_encephalopathy,toxic_encephalopathy,,D020258,19466003,G92,,, 1672,ovarian_mucinous_cystadenocarcinoma,,,,254851009,,,, 1673,mucinous_cystadenocarcinoma,mucinous_cystadenocarcinoma,,D018282,79143006|189692006,,,, 1674,pancreatic_vasoactive_intestinal_peptide_producing_tumor,,,,,,,, 1675,small_intestinal_vasoactive_intestinal_peptide_producing_tumor,,,,,,,, 1676,acinic_cell_breast_carcinoma,,,,,,,, 1677,pancreatic_acinar_cell_adenocarcinoma,,,,,,,, 1678,breast_intracanalicular_fibroadenoma,,,,189821006|72905006,,,, 1679,benign_fibrous_mesothelioma,,,D054363,15702005|254646001,,,, 1680,adrenal_neuroblastoma,,,,281562007,,,, 1681,mediastinum_liposarcoma,,,,,,,, 1682,intracranial_liposarcoma,,,,,,,, 1683,functionless_pituitary_adenoma,,,,254962005,,,, 1684,variola_major,variola_major,050.0,,,,,, 1685,cutaneous_liposarcoma,,,,,,,, 1686,vulvar_liposarcoma,,,,,,,, 1687,seminal_vesicle_cystadenoma,,,,,,,, 1688,rete_ovarii_cystadenoma,,,,,,,, 1689,mixed_type_liposarcoma,,,,11073003,,,, 1690,wolffian_duct_adenoma,,,,72889001,,,, 1691,serous_surface_papilloma,,,,189689007|67073007,,,, 1692,juxtacortical_chondroma,,,,9266000,,,, 1693,diffuse_peritoneal_leiomyomatosis,,,,62557001,,,, 1694,intravenous_leiomyomatosis,intravenous_leiomyomatosis,,,254883003,,,, 1695,uterine_ligament_papillary_cystadenoma,,,,,,,, 1696,gastric_liposarcoma,,,,,,,, 1697,breast_liposarcoma,,,,,,,, 1698,sclerosing_liposarcoma,,,,28655007|404068003,,,, 1699,spindle_cell_liposarcoma,,,,404073009,,,, 1700,pleomorphic_liposarcoma,,,D008080,404071006|112683004,,,C49,112683004|404071006 1701,chronic_gonorrhea_of_cervix,,098.35,,76802005,,,, 1702,avoidant_personality_disorder,avoidant_personality_disorder,301.82,D010554,37746008|191771004,F60.6,,, 1703,oral_submucous_fibrosis,oral_submucous_fibrosis,528.8,,32883009,K13.5,,, 1704,giant_hemangioma,,,,,,,, 1705,central_nervous_system_hematologic_cancer,,,,,,,, 1706,rectum_neuroendocrine_neoplasm,,,,,,,, 1707,cavernous_hemangioma_of_colon,,,,,,,, 1708,cavernous_hemangioma_of_face,,,,,,,, 1709,parathyroid_carcinoma,parathyroid_carcinoma,,D010282,93943008|127020005|255037004|363481002,C75.0,,C75.0,255037004 1710,macrotrabecular_hepatoblastoma,,,,,,,, 1711,cecum_lymphoma,,,,,,,, 1712,colon_lymphoma,,,,,,,, 1713,nodular_nonsuppurative_panniculitis,nodular_nonsuppurative_panniculitis,,D010201,203120002|33760009|203121003,,D010201,M35.6,33760009 1714,cecal_neoplasm,,,D002430,126839008,,,, 1715,esophageal_neuroendocrine_tumor,,,,,,,, 1716,mixed_hepatoblastoma,,,,,,,, 1717,vibratory_urticaria,,708.4,,51247001,L50.4,,, 1718,arthus_reaction,arthus_reaction,995.21,D001183,402413008|29548007,,,, 1719,mechanical_ectropion,,374.12,,45020000,,,, 1720,atrophic_flaccid_tympanic_membrane,,384.81,,38645004|194322005,,,, 1721,chromoblastomycosis,chromoblastomycosis,117.2,D002862,252402000|7255004|238441002|187082005|187079000|187490000,B43.9,D002862,B43,187079000 1722,focal_embolic_glomerulonephritis,,,,,,,, 1723,proliferative_glomerulonephritis,,,,441815006,,,, 1724,acute_gonococcal_prostatitis,,098.12,,111806005,,,, 1725,cadasil,cadasil,,D046589,,,D046589,F01.1|I67.8,390936003 1726,bladder_neck_obstruction,bladder_neck_obstruction,596.0,D001748,399072004|25220001|197859007|155887006|416991005,N32.0,,, 1727,congenital_mitral_regurgitation,,746.6,,29928006|233857005,Q23.3,,, 1728,exudative_glomerulonephritis,,,,,,,, 1729,rapidly_progressive_glomerulonephritis,rapidly_progressive_glomerulonephritis,,,45406000|236392004,,,N01, 1730,uterine_corpus_lipoleiomyoma,,,,,,,, 1731,pseudopapilledema,pseudopapilledema,377.24,,57138009,,,, 1732,uterine_corpus_myxoid_leiomyoma,,,,,,,, 1733,vasculogenic_impotence,,,D018783,,,,, 1734,embryoma,embryoma,,,86049000,,,, 1735,uterine_corpus_epithelioid_leiomyoma,,,,,,,, 1736,acute_gonococcal_salpingitis,,098.17,,45377007,,,, 1737,benign_paroxysmal_positional_nystagmus,,386.11,C535431,267763004|111541001,H83.2,,, 1738,norum_disease,norum_disease,,C537850|D007863,49227001|238091006,,,E78.6, 1739,hypobetalipoproteinemia,,,D006995,190786004,,,, 1740,uterine_corpus_bizarre_leiomyoma,,,,,,,, 1741,primary_lacrimal_atrophy,,375.13,,193978007|17093002,,,, 1742,epithelial_predominant_pulmonary_blastoma,,,,,,,, 1743,uterus_interstitial_leiomyoma,,218.1,,93616000,D25.1,,, 1744,classic_pulmonary_blastoma,,,,,,,, 1745,uterine_corpus_dissecting_leiomyoma,,,,,,,, 1746,pleuropulmonary_blastoma,pleuropulmonary_blastoma,,C537516,128763002,,,C34, 1747,fox_fordyce_disease,fox-fordyce_disease,705.82,D005588,254682006|65038009,L75.2,,, 1748,morgagni_cataract,,366.18,,264443002|267626000|193591001|22315007|247065006,,,, 1749,nuclear_senile_cataract,,366.16,,46129005|193589009,H25.1,,, 1750,aggressive_systemic_mastocytosis,,,D034721,397008008|397358005,,,C96.2,397008008|397358005 1751,sm_ahnmd,,,,397357000|397015000,,,, 1752,space_motion_sickness,space_motion_sickness,,D018489,,,,, 1753,tay_sachs_disease_ab_variant,,,D049290,71253000,,,, 1754,urinary_schistosomiasis,,120.0,D012553,197846004|53991003|60979006|187112004,,,, 1755,abetalipoproteinemia,abetalipoproteinemia,,D000012,190787008|60193003|83123000,,D000012,E78.6,190787008 1756,female_breast_lower_outer_quadrant_cancer,,174.5,,188155002,,,, 1757,tangier_disease,tangier_disease,,D013631|C531828,15346004|190783007,,D013631,E78.6,15346004 1758,supratentorial_primitive_neuroectodermal_tumor,,,,39781001,,,, 1759,medulloepithelioma,medulloepithelioma,,D018242,189932005|39005004,,,, 1760,mesangial_proliferative_glomerulonephritis,mesangial_proliferative_glomerulonephritis,,,35546006,,,, 1761,immune_complex_glomerulonephritis,,,,123752003,,,, 1762,subacute_glomerulonephritis,,,,123609007,,,, 1763,cerebellopontine_angle_primitive_neuroectodermal,,,,,,,, 1764,intracranial_primitive_neuroectodermal_tumor,,,,,,,, 1765,lacrimal_duct_obstruction,,,D007767,246865000|416920000|95769009,,,, 1766,necrotizing_ulcerative_gingivitis,necrotizing_ulcerative_gingivitis,,C538222|D005892,266213004|172697005|266145002|30896000|173599005|186960006|186962003|266146001|186964002|240675006|154391003|186961005|171847006|399050001|278519005|186963008,,,, 1767,testicular_leydig_cell_tumor,,,,,,,, 1768,bacterial_esophagitis,,,,235601001,,,, 1769,eosinophilic_esophagitis,eosinophilic_esophagitis,530.13,D057765,235599003,,D057765,K20,235599003 1770,paranasal_sinus_lymphoma,,,,,,,, 1771,somatization_disorder,somatization_disorder,300.81,D013001,397923000|60368009|191743005|397826007|9514005|397795007|154892001|192431008,F45.0,,, 1772,irregular_astigmatism,,367.22,,47099006,,,, 1773,intracranial_hypotension,intracranial_hypotension,,D019585,,,,, 1774,red_color_blindness,,368.51,D003117,51445007,,,, 1775,brain_edema,brain_edema,,D001929,85974009|2032001,,,, 1776,achromatopsia,achromatopsia,368.54,D003117,56852002,,,, 1777,acquired_color_blindness,,368.55,D003117,71676008,,,, 1778,lumbosacral_plexus_lesion,,353.1,,4062006,S34.4,,, 1779,paranasal_sinus_sarcoma,,,,,,,, 1780,red_green_color_blindness,,368.52,D003117,77479002|246674000,,,, 1781,vasomotor_rhinitis,,,D012223,155537009|8229003|266386004,J30.0,,, 1782,atrophic_rhinitis,atrophic_rhinitis,,D012222,28111002,,,, 1783,peptic_esophagitis,,530.11,D004942,54856001|266498005|57643001|196600005|155673008,,,, 1784,endometrial_stromal_nodule,,,,70971005|189810002,,,, 1785,uterine_corpus_adenomatoid_tumor,,,,,,,, 1786,neonatal_urinary_tract_infectious_disease,,771.82,,12301009,N39.0|P39.3,,, 1787,white_piedra,white_piedra,,D010854,238435009|154408001|402135006|266218008,B36.2,,, 1788,testicular_brenner_tumor,,,,,,,, 1789,anti_basement_membrane_glomerulonephritis,,,,,,,, 1790,calciphylaxis,calciphylaxis,,D002115,237900002,,,, 1791,striatonigral_degeneration,striatonigral_degeneration,,D020955,29618004,G23.2,,, 1792,pure_red_cell_aplasia,pure_red_cell_aplasia,,D012010,50715003|191253005|191252000,,,, 1793,congenital_dyserythropoietic_anemia,congenital_dyserythropoietic_anemia,,D000742,191272005|52951008,,D000742,D64.4,52951008 1794,placenta_accreta,placenta_accreta,,D010921,70129008,,,, 1795,amenorrhea,amenorrhea,626.0,D000568,198414005|156034000|14302001|156037007,,,, 1796,middle_cranial_fossa_meningioma,,,,,,,, 1797,urethritis,urethritis,597.80,D014526,154388003|84619001|31822004|197905005,N34.1|N37.0,,, 1798,diamond_blackfan_anemia,,,D029503,191235004|191239005|88854002|188588001,,,, 1799,borjeson_forssman_lehmann_syndrome,,,,,,C536575,Q87.8,21634003 1800,athabaskan_brainstem_dysgenesis_syndrome,,,,,,C535397,Q87.8, 1801,bothnia_retinal_dystrophy,,,,,,,H35.5, 1802,bowen_conradi_syndrome,,,,,,C537081,Q02, 1803,boomerang_dysplasia,boomerang_dysplasia,,,,N87.9|N89.3|N90.3,C536573,Q87.1,254054000 1804,pyruvate_decarboxylase_deficiency,,,D015325,46683007|124160001|190761008,,,E74.4, 1805,hypothalamic_neoplasm,,,D007029,254968009,,,, 1806,conus_medullaris_neoplasm,,,,,,,, 1807,empty_sella_syndrome,empty_sella_syndrome,,D004652,393569006|237722004|190489005,,,, 1808,blau_syndrome,blau_syndrome,,,,,,, 1809,blue_cone_monochromacy,blue_cone_monochromacy,,,,,C536238|C538165,H53.5,24704003 1810,birt_hogg_dube_syndrome,,,,,,D058249,,110985001 1811,bjornstad_syndrome,bjornstad_syndrome,,,,,C537633,,67817003 1812,congenital_bile_acid_synthesis_defect,,,,,,,, 1813,birk_barel_syndrome,,,,,,,, 1814,dyskinetic_cerebral_palsy,,,,,,,, 1815,mixed_cerebral_palsy,mixed_cerebral_palsy,,,,,,, 1816,ataxic_cerebral_palsy,ataxic_cerebral_palsy,,,,G80.4,,, 1817,beta_mannosidosis,beta-mannosidosis,,D044905,238047006,,D044905,E77.1,238047006 1818,brachydactyly_syndactyly_syndrome,,,,,,,Q73.8, 1819,small_cell_carcinoma,small-cell_carcinoma,,,189557009|5958006,,,, 1820,spinal_cord_intramedullary_teratoma,,,,,,,, 1821,thyrocalcitonin_secretion_disease,,246.0,,190303007,,,, 1822,branchiooculofacial_syndrome,,,,,,,Q18.8, 1823,childhood_spinal_cord_tumor,,,,,,,, 1824,brachyolmia,,,,,,C537098,Q76.3,254088006 1825,congenital_myasthenic_syndrome,congenital_myasthenic_syndrome,,D020294,,,,, 1826,chorioamnionitis,chorioamnionitis,,,,,,, 1827,brown_vialetto_van_laere_syndrome,,,,,,C537111,G12.1, 1828,malignant_pleural_solitary_fibrous_tumor,,,,,,,, 1829,brody_myopathy,brody_myopathy,,,,,C536607,G71.8, 1830,brooke_spiegler_syndrome,,,,,,,, 1831,funisitis,funisitis,,,,,,, 1832,diffuse_cutaneous_mastocytosis,diffuse_cutaneous_mastocytosis,,D034701,,,,Q82.2, 1833,cutaneous_solitary_mastocytoma,,,,,,,, 1834,wheat_allergic_reaction,,,D021182,420174000,,,, 1835,sulfhemoglobinemia,sulfhemoglobinemia,,D013436,191391008|32117000|191386007,,,, 1836,pancytopenia,pancytopenia,284.1,D010198,127034005|267528007|191250008,,,, 1837,intermittent_claudication,intermittent_claudication,,D007383,155430009|195312007|63491006,,,, 1838,sialuria,sialuria,,D029461,238051008,,C537332,E77.8,34566007 1839,leigh_disease,,,D007888,29570005,,,G31.8, 1840,pyruvate_carboxylase_deficiency_disease,pyruvate_carboxylase_deficiency,,D015324,124716008|87694001,,D015324,E74.4,87694001 1841,conjugate_gaze_palsy,conjugate_gaze_palsy,378.81,,193169002|194130001|1534008,H51.0,,, 1842,alternating_hemiplegia_of_childhood,alternating_hemiplegia_of_childhood,,,,,C536589,G98,230466004 1843,alopecia_universalis,alopecia_universalis,,,,L63.1,C537055,L63.1,86166000 1844,finnish_type_amyloidosis,finnish_type_amyloidosis,,,,,,E85.1, 1845,familial_visceral_amyloidosis,familial_visceral_amyloidosis,,,,,,, 1846,primary_cutaneous_amyloidosis,primary_cutaneous_amyloidosis,,,,,,E85.4+|L99.0*,201337008|282834007 1847,transthyretin_amyloidosis,transthyretin_amyloidosis,,,,,,E85.1,42295001 1848,aland_island_eye_disease,,,,,,,H35.5, 1849,atransferrinemia,atransferrinemia,,,,,C538259,D50.8,111571009 1850,distal_arthrogryposis,,,,,,C536613,Q74.3,77016009 1851,arterial_tortuosity_syndrome,arterial_tortuosity_syndrome,,,,,,I73.8, 1852,atelosteogenesis,,,,,,,, 1853,arts_syndrome,,,,,,,E79.8, 1854,melas_syndrome,melas_syndrome,,D017241,240097009|39925003,,D017241,G71.3,39925003 1855,penis_non_invasive_verrucous_carcinoma,,,,,,,, 1856,brachial_plexus_neuritis,,,D020968,26609002|268079007|3548001|72893007|156642003,,,, 1857,meningeal_melanocytoma,,,,277527003|128730009,,,, 1858,ocular_albinism,,,,,,,, 1859,secondary_hyperparathyroidism_of_renal_origin,,588.81,D006962,19034001|31298003|91478007,E21.1,,, 1860,oculocutaneous_albinism,oculocutaneous_albinism,,,,,D016115,E70.3,63844009 1861,allan_herndon_dudley_syndrome,,,,,,C537047,E03.8, 1862,generalized_arterial_calcification_of_infancy,idiopathic_infantile_arterial_calcification,,,,,,, 1863,anonychia_congenita,,,,,,,Q84.3, 1864,anauxetic_dysplasia,,,,,,C538256,Q77.7, 1865,bart_pumphrey_syndrome,,,,,,,Q82.8, 1866,bannayan_riley_ruvalcaba_syndrome,,,,,,,Q87.8,21984008|234138005|46011003 1867,pseudo_torch_syndrome,pseudo-torch_syndrome,,,,,,Q87.8, 1868,pericoronitis,pericoronitis,,D010497,22240003,,,, 1869,kidney_rhabdoid_cancer,,,,,,,, 1870,pulmonary_plasma_cell_granuloma,,,D016726,1648002|254641006,,,, 1871,hypochromic_microcytic_anemia,,,,,,,D50.8, 1872,capillariasis,capillariasis,127.5,,52979002,,,, 1873,rh_deficiency_syndrome,,,,,,,, 1874,pes_anserinus_tendinitis_or_bursitis,,726.61,,,,,, 1875,extrahepatic_bile_duct_small_cell_adenocarcinoma,,,,,,,, 1876,atrioventricular_septal_defect,atrioventricular_septal_defect,,,,Q21.2,C536112,Q21.2, 1877,familial_atrial_fibrillation,familial_atrial_fibrillation,,,,,,, 1878,bamforth_lazarus_syndrome,bamforth-lazarus_syndrome,,,,,C537901,E03.1, 1879,baller_gerold_syndrome,,,,,,C536788,Q87.0,77608001 1880,biotin_responsive_basal_ganglia_disease,,,,,,C537658,, 1881,adult_brainstem_mixed_glioma,,,,,,,, 1882,distal_biliary_tract_carcinoma,,,,,,,, 1883,adult_brainstem_astrocytoma,,,,,,,, 1884,partial_fetal_alcohol_syndrome,,,,,,,, 1885,bethlem_myopathy,bethlem_myopathy,,,,,C535436,G71.0, 1886,vagus_nerve_disease,vagus_nerve,352.3,D020421,73765005,G52.2,,, 1887,anal_colloid_adenocarcinoma,,,,,,,, 1888,alcohol_related_neurodevelopmental_disorder,,,,,,,, 1889,alcohol_related_birth_defect,,,,,,,, 1890,fetal_alcohol_syndrome,,,,,,,, 1891,bestrophinopathy,,,,,,,H35.5, 1892,vitelliform_macular_dystrophy,vitelliform_macular_dystrophy,,,,,,H35.5, 1893,bietti_crystalline_corneoretinal_dystrophy,,,,,,,H15.5, 1894,uterus_intravascular_leiomyomatosis,,,,,,,, 1895,beare_stevenson_cutis_gyrata_syndrome,,,,,,,Q87.8, 1896,uterine_corpus_diffuse_leiomyomatosis,,,,,,,, 1897,nonencapsulated_sclerosing_carcinoma,,,,62681000,,,, 1898,brachial_plexus_neoplasm,,,,,02|D37.9|D38.6|D39.9|D40.9|D41.9|D42.9|D43.2|D43.9|D44.9|D47.9|D48.9,,, 1899,uterine_ligament_mucinous_adenocarcinoma,,,,,,,, 1900,bile_duct_mucinous_adenocarcinoma,,,,,,,, 1901,ampulla_of_vater_mucinous_adenocarcinoma,,,,,,,, 1902,cerebral_lymphoma,primary_cerebral_lymphoma,,,276836002,,,, 1903,adenosine_deaminase_deficiency,adenosine_deaminase_deficiency,,C531816,124523006|190999009|190738006|44940001,D81.0|D81.1|D81.2|D81.3,C531816,D81.3, 1904,composite_lymphoma,,,D058617,,,D058617,,128798004 1905,acheiropody,acheiropody,,,,,C536014,Q74.8,177504007 1906,acrocapitofemoral_dysplasia,,,,,,,Q78.8, 1907,adult_syndrome,,,,,,C538052,Q87.2, 1908,triple_a_syndrome,,,,,,,E27.4, 1909,askins_tumor,,,,,,,, 1910,acrodermatitis_enteropathica,acrodermatitis_enteropathica,,,,,,E83.2, 1911,periarthritis,,,D010489,268091003|202892006|156665008|50921008,,,, 1912,acrokeratosis_verruciformis,acrokeratosis_verruciformis,,,,,,Q82.8,400085009 1913,cockayne_syndrome,cockayne_syndrome,,D003057,21086008|205832003,,,Q75.0, 1914,childhood_parosteal_osteogenic_sarcoma,,,,,,,, 1915,photosensitive_trichothiodystrophy,,,C536559,403796005,E40-E46,C536559|D054463,Q80.8|L67.8, 1916,abcd_syndrome,,,,,,,, 1917,mhc_class_ii_deficiency,,,D016511,71904008,,,, 1918,purine_nucleoside_phosphorylase_deficiency,purine_nucleoside_phosphorylase_deficiency,,,60743005|124271005|191000008,D81.5,,, 1919,cervical_endometrioid_adenocarcinoma,,,,,,,, 1920,fallopian_tube_endometrioid_adenocarcinoma,,,,,,,, 1921,primary_hyperoxaluria,primary_hyperoxaluria,,D006959,17901006|190766003,N17-N19|N19|N15.9|Q60.2|Q60.5,,, 1922,renal_artery_obstruction,renal_artery_obstruction,,D012078,,,,, 1923,kidney_cortex_necrosis,,,D007673,45456005,,,, 1924,adult_lymphoma,,,,,,,, 1925,breast_lymphoma,,,,278052009,,,, 1926,pediatric_lymphoma,,,,,,,, 1927,uterine_ligament_endometrioid_adenocarcinoma,,,,,,,, 1928,advanced_sleep_phase_syndrome,advanced_sleep_phase_syndrome,,,,,,, 1929,methotrexate_associated_lymphoproliferation,,,,,,,, 1930,endometrioid_ovary_carcinoma,,,,254852002,,,, 1931,bronchiolitis,bronchiolitis,,D001988,4120002,,,, 1932,extragonadal_seminoma,,,,,,,, 1933,severe_acute_respiratory_syndrome,severe_acute_respiratory_syndrome,079.82,D045169,398447004,U04,D045169,U04,398447004 1934,gastrointestinal_neuroendocrine_tumor_cancer,,,,,,,, 1935,malignant_sertoli_cell_tumor,,,,,,,, 1936,malignant_sertoli_leydig_cell_tumor,,,,,,,, 1937,gall_bladder_carcinoma_in_situ,,,,,,,, 1938,pulmonary_tuberculosis,,011.90|011.9|011,D014397,154283005|397190009|81483001|186180006,,,, 1939,bile_duct_carcinoma_in_situ,,,,,,,, 1940,oral_cavity_carcinoma_in_situ,,,,,,,, 1941,pharynx_carcinoma_in_situ,,,,,,,, 1942,subendocardial_myocardial_infarction,,,,,,,, 1943,prostate_colloid_adenocarcinoma,,,,,,,, 1944,fallopian_tube_mucinous_adenocarcinoma,,,,,,,, 1945,posterior_myocardial_infarction,,,,194800006,,,, 1946,fallopian_tube_mucinous_tumor,,,,,,,, 1947,apical_myocardial_infarction,,,,,,,, 1948,anterolateral_myocardial_infarction,,,D056988,,,,, 1949,endometrial_mucinous_adenocarcinoma,,,,,,,, 1950,septal_myocardial_infarction,,,,,,,, 1951,posteroinferior_myocardial_infarction,,,,,,,, 1952,aicardi_goutieres_syndrome,,,,,G93.4,,, 1953,gallbladder_mucinous_carcinoma,,,,,,,, 1954,acute_allergic_sanguinous_otitis_media,,381.06,,17866004|194243008,,,, 1955,clear_cell_chondrosarcoma,,,,128775007,,,, 1956,solitary_plasmacytoma_of_chest_wall,,,,,,,, 1957,solitary_osseous_plasmacytoma,,,,42215000|426336007,,,, 1958,tinea_pedis,tinea_pedis,110.4,D014008,154399001|186993002|271427009|6020002,B35.3,,, 1959,mucinous_stomach_adenocarcinoma,,,,,,,, 1960,periosteal_chondrosarcoma,,,,,,,, 1961,bladder_colloid_adenocarcinoma,,,,,,,, 1962,posterolateral_myocardial_infarction,,,,,,,, 1963,inferior_myocardial_infarction,,,D056989,194804002,,,, 1964,lateral_myocardial_infarction,,,,194801005,,,, 1965,inferolateral_myocardial_infarct,,,,,,,, 1966,peripheral_epithelioid_sarcoma,,,,,,,, 1967,anteroseptal_myocardial_infarction,,,D056988,,,,, 1968,silent_myocardial_infarction,,,,194796000|233843008,,,, 1969,rectum_mucinous_adenocarcinoma,,,,,,,, 1970,extramedullary_plasmacytoma,,,,188718006|10639003|128921005|109987008,C90.2,,, 1971,juxtacortical_chondrosarcoma,,,,26211003,,,, 1972,intermediate_cell_type_choroid_melanoma,,,,,,,, 1973,intermediate_cell_type_ciliary_body_melanoma,,,,,,,, 1974,localized_chondrosarcoma,,,,,,,, 1975,iris_mixed_cell_melanoma,,,,,,,, 1976,theileriasis,theileriasis,,D013801,68771000,,,, 1977,intermittent_explosive_disorder,intermittent_explosive_disorder,312.34|301.3,D007174,231527003|268757006|192488005|40987004|192096007|191759005,,,, 1978,verrucous_carcinoma,verrucous_carcinoma,,D018289,403904009|399408005|189563000|89906000,,,, 1979,pyromania,pyromania,312.33,D005391,600009|192502006|248015004,F63.1,,, 1980,endocardium_cancer,,,,93778001|126731002|363436001,,,, 1981,retroperitoneal_germ_cell_neoplasm,,,,,,,, 1982,familial_mediterranean_fever,familial_mediterranean_fever,277.31,D010505,12579009,R50.8|R50.9,,, 1983,iga_glomerulonephritis,,,D005922|C538412,236407003|197632002|68779003,,,, 1984,bladder_verrucous_squamous_cell_carcinoma,,,,,,,, 1985,benign_intermediate_mesothelioma,,,,,,,, 1986,vulva_verrucous_carcinoma,,,,,,,, 1987,cervical_verrucous_carcinoma,,,,,,,, 1988,esophagus_verrucous_carcinoma,,,,,,,, 1989,urethral_verrucous_carcinoma,,,,,,,, 1990,anuria,anuria,,D001002,2472002|207182009|158479000|139460001,,,, 1991,perinephritis,,,D010501,111404004,,,, 1992,kidney_papillary_necrosis,kidney_papillary_necrosis,,D007681,90241004|197651008,,,, 1993,antiphospholipid_syndrome,antiphospholipid_syndrome,,D016736,201450008|26843008|19267009,,,, 1994,prostate_neuroendocrine_neoplasm,,,,,,,, 1995,sertoli_leydig_cell_tumor,sertoli-leydig_cell_tumor,,D018310,34110004,,,, 1996,mixed_germ_cell_sex_cord_neoplasm,,,,406096006,,,, 1997,ovarian_clear_cell_cystadenofibroma,,,,,,,, 1998,vulvar_inverted_follicular_keratosis,,,,,,,, 1999,pyuria,pyuria,,D011776,167358001|144593007|4800001|275765006,,,, 2000,corneal_ectasia,,371.71,,14748007,,,, 2001,malignant_adult_ependymoma,,,,,,,, 2002,blindness,blindness,369,,193698004|155146008|155150001|267729001,,,, 2003,kleptomania,kleptomania,312.32,D007174,69361009|192503001|154947009,F63.2,,, 2004,adult_malignant_mesenchymoma,,,,,,,, 2005,clear_cell_cystadenofibroma,,,,58161009,,,, 2006,childhood_malignant_mesenchymoma,,,,,,,, 2007,malignant_gastric_teratoma,,,,,,,, 2008,machado_joseph_disease,,,D017827|C538628,91952008,,,G11, 2009,alpers_syndrome,alpers_syndrome,,D002549,20415001,,D002549,G31.8,20415001 2010,cerebrotendinous_xanthomatosis,cerebrotendinous_xanthomatosis,,D019294,63246000,,D019294,E75.5,63246000 2011,combat_disorder,,,D003130,,,,, 2012,telangiectatic_osteogenic_sarcoma,,,,78453009,,,, 2013,small_intestine_lymphoma,,,,,,,, 2014,glomangiomatosis,,,,,,,, 2015,contact_blepharoconjunctivitis,,372.22,,10813004|193872007,,,, 2016,klippel_trenaunay_syndrome,,,D007715,59078009,,,Q87.2, 2017,membranoproliferative_glomerulonephritis,,,D015432,80321008,,,, 2018,myoepithelial_carcinoma,,,,24292006|128884000,,,, 2019,gorhams_disease,,,D010015,240161003,,,M89.5,1515008 2020,sebaceous_adenocarcinoma,,,D018266,54734006|307599002|188083002|255094009,,,, 2021,pancreatic_cholera,,,C536686|D003969,70091000|39998009|237576001,,,, 2022,micropapillary_variant_infiltrating_bladder_urothelial_carcinoma,,,,,,,, 2023,bladder_urothelial_papillary_carcinoma,,,,,,,, 2024,adenosquamous_carcinoma,adenosquamous_carcinoma,,D018196,403902008|59367005,,,, 2025,pyoureter,,,,85884009|266627003,,,, 2026,adenosquamous_cell_lung_carcinoma,adenosquamous_lung_carcinoma,,,,,,, 2027,acute_canaliculitis,,375.31,,84399007,,,, 2028,bartholins_gland_squamous_cell_carcinoma,,,,,,,, 2029,gyrate_atrophy,,,D015799,367536002|314466003|87126009|314467007,,,, 2030,bacteriuria,bacteriuria,,D001437,61373006,,,, 2031,rectal_cloacogenic_carcinoma,,,,,,,, 2032,aleukemic_monocytic_leukemia_cutis,,,,,,,, 2033,ganglioneuroma,ganglioneuroma,,,,,,, 2034,adult_brainstem_gliosarcoma,,,,,,,, 2035,familiar_ovarian_carcinoma,,,,,,,, 2036,cryoglobulinemia,cryoglobulinemia,,D003449,30911005,,,, 2037,residual_stage_angle_closure_glaucoma,,365.24,,55129006,,,, 2038,iritis,iritis,,D007500,65074000,,,, 2039,chediak_higashi_syndrome,chediak-higashi_syndrome,,D002609,191356000|190696004|123309000|111396008,,D002609,E70.3,111396008 2040,aleutian_mink_disease,aleutian_mink_disease,,D000453,62251004,,,, 2041,peroneal_nerve_paralysis,,,D020427,34553007,,,, 2042,newcastle_disease,newcastle_disease,,D009521,155162002|89366008|267734002|231859001|258300000,,,, 2043,predominantly_cortical_thymoma,,,,128711009,,,, 2044,cleidocranial_dysplasia,cleidocranial_dysplasia,,C531655|D002973,65976001|240193006,,D002973,Q74.0,65976001 2045,urinary_bladder_inverted_papilloma,,,,,,,, 2046,treacher_collins_syndrome,,,D008342|C538661,205804007|82203000|205416009,,,, 2047,papillary_extrahepatic_bile_duct_adenocarcinoma,,,,,,,, 2048,pediatric_intraocular_retinoblastoma,,,,,,,, 2049,childhood_brain_meningioma,,,,,,,, 2050,urethra_inverted_papilloma,,,,,,,, 2051,ureter_inverted_papilloma,,,,,,,, 2052,acute_pancreatitis,acute_pancreatitis,577.0,,197457003|155834006|197461009|197456007|266476001|39726008,K85,,, 2053,trichuriasis,trichuriasis,127.3,D014257,60570001|154413002|3752003,B79,,, 2054,parametritis,parametritis,,D010249,280483007|198164005|198165006|37518008,,,, 2055,goldenhar_syndrome,goldenhar_syndrome,,C537281|D006053,109393007|205418005|367462009|15557005|254025006|46567003,,D006053,Q87.0|Q75.8,15557005|205418005|254026007|367462009|254025006 2056,scleroperikeratitis,,379.05,,42574005,,,, 2057,tuberculous_epididymitis,,016.4,,83652003,,,, 2058,rete_ovarii_adenocarcinoma,,,,,,,, 2059,middle_ear_adenocarcinoma,,,,,,,, 2060,parasitic_eyelid_infestation,,373.6,,193922006,H03.0,,, 2061,tetanic_cataract,,366.42,,193607003|68216000,,,, 2062,squamous_blepharitis,,373.02,,58912008,,,, 2063,infective_dermatitis_of_eyelid_of_types_resulting_in_deformity,,373.4,,193920003,L30.3,,, 2064,acute_closed_angle_glaucoma,,365.22,,30041005,,,, 2065,trichostrongylosis,,127.6,D014253,33710003,B81.2,,, 2066,juvenile_myoclonic_epilepsy,juvenile_myoclonic_epilepsy,,D020190,6204001,,,, 2067,lung_adenoid_cystic_carcinoma,,,,,,,, 2068,meningovascular_neurosyphilis,,,,,,,, 2069,bartholins_gland_adenoid_cystic_carcinoma,,,,,,,, 2070,breast_adenoid_cystic_carcinoma,,,,,,,, 2071,inclusion_conjunctivitis,,077.0,D003235,186733005|266202002|266109000|186674002|231861005|111840005|56009001|154370006,A74.0,,, 2072,pharyngoconjunctival_fever,,077.2,D000258,70385007,,,, 2073,esophageal_adenoid_cystic_carcinoma,,,,,,,, 2074,brain_stem_astrocytic_neoplasm,,,,,,,, 2075,paranoid_schizophrenia,paranoid_schizophrenia,295.32|295.30|295.3|295.31,D012563,191551006|268748000|31658008|154865007|154869001|64905009|191557005|268747005|192319007|192330005|191553009,F20.0,,, 2076,lymphogranuloma_venereum,lymphogranuloma_venereum,099.1,D008219,266213004|186946009|89427004|154391003,,,, 2077,hypoglossal_nerve_disease,hypoglossal_nerve,352.5,D020437,24777009,G52.3,,, 2078,adenoid_cystic_carcinoma,adenoid_cystic_carcinoma,,D003528,302827006|189594000|11671000,,,, 2079,chronic_subinvolution_of_uterus,,621.1,,198315005|53518003,,,, 2080,cervical_adenoid_cystic_carcinoma,,,,,,,C53, 2081,adhesions_of_uterus,,,,31107007|301789000|361115000|367435001,N85.6,,, 2082,laryngeal_adenoid_cystic_carcinoma,,,,,,,, 2083,familial_hypercholesterolemia,familial_hypercholesterolemia,,D006938,398036000|31654005|190772003|190776000|389985001|190775001|190773008,,,, 2084,spinal_cord_astrocytoma,,,,254948003,,,, 2085,prostate_adenoid_cystic_carcinoma,,,,,,,, 2086,pineal_gland_astrocytoma,,,,,,,, 2087,diencephalic_astrocytomas,,,,,,,, 2088,gliofibroma,,,,128909006,,,, 2089,pilocytic_astrocytoma_of_cerebellum,,,,277507004,,,, 2090,pleomorphic_xanthoastrocytoma,pleomorphic_xanthoastrocytoma,,,78838008|189924002,,,, 2091,echinostomiasis,echinostomiasis,,D004451,36607007|52918004,,,, 2092,dicrocoeliasis,dicrocoeliasis,,D004011,8410006,B66.2,,, 2093,tympanosclerosis,tympanosclerosis,385.09,,111540000,H74.0,,, 2094,fascioloidiasis,fascioloidiasis,,D005213,69550000,,,, 2095,ocular_hyperemia,,,,359610006|76849009,,,, 2096,luxation_of_globe,,360.81,,20842008,,,, 2097,transvestism,transvestism,302.3,D014190,248108005|191780004|154907002|192509002|268763002|63495002,F64.1|F65.1,,, 2098,pilomyxoid_astrocytoma,,,,388600004,,,, 2099,cauda_equina_intradural_extramedullary_astrocytoma,,,,,,,, 2100,bronchiolitis_obliterans_organizing_pneumonia,bronchiolitis_obliterans_organizing_pneumonia,,D018549,129458007,,,, 2101,bronchiolitis_obliterans,bronchiolitis_obliterans,,D001989,40100001|31886003,,,, 2102,cough_variant_asthma,,493.82,,409663006,,,, 2103,necatoriasis,necatoriasis,,D009332,36667009,B76.1,,, 2104,male_genital_organ_stricture,,608.85,,198067000|198064007,,,, 2105,coffin_lowry_syndrome,coffin-lowry_syndrome,,D038921,15182000,,D038921,Q87.0,15182000 2106,anovulation,anovulation,,D000858,34571000,,,, 2107,corneal_granular_dystrophy,,371.53,D003317,45283008,,,, 2108,desquamative_interstitial_pneumonia,desquamative_interstitial_pneumonia,,,8549006,,,J84.8,8549006 2109,kyphoscoliotic_heart_disease,,416.1,,194886003|45650007,I27.1,,, 2110,granuloma_annulare,granuloma_annulare,,D016460,267850001|200953005|156368000|65508009,L92.0,,, 2111,marasmus,marasmus,261,D011502,190599003|154730001|267495004|29740003,E41,,, 2112,dandy_walker_syndrome,dandy-walker_syndrome,,D003616,14447001|204063009,Q03.1,,Q03.1, 2113,hematocele_of_tunica_vaginalis_testis,,,D006398,66259004,,,, 2114,rectosigmoid_junction_neoplasm,rectosigmoid_neoplasm,,,126848003,,,, 2115,rectosigmoid_cancer,,,,,,,, 2116,anterior_corneal_pigmentation,,371.11,,270489003|193805008|18377001,,,, 2117,dubin_johnson_syndrome,,,D007566,44553005,,D007566,E80.6,44553005 2118,urticaria_pigmentosa,urticaria_pigmentosa,,D014582,205566001|78745000,,D014582,Q82.2,78745000 2119,conjunctival_pigmentation,,372.55,,66081003|267645009|193888007,,,, 2120,bloch_sulzberger_syndrome,,,D007184,205567005|367520004|806001,Q82.3,D007184,Q82.3,367520004 2121,stromal_corneal_pigmentation,,371.12,,55031000,,,, 2122,denys_drash_syndrome,denys-drash_syndrome,,D030321|C538672,236385009,,D030321,N04.1,236385009 2123,pseudohermaphroditism,pseudohermaphroditism,752.7,,204897001|204895009|268328009|75164001|268229003,Q56|Q56.3,,, 2124,cytochrome_c_oxidase_deficiency_disease,,,D030401,237991006|67434000|124199009,,,, 2125,leukorrhea,leukorrhea,,D007973,278070007|156017008|11057009|237101004|70856007|266664009,,,, 2126,third_ventricle_chordoid_glioma,,,,128789002,,,, 2127,chordoid_glioma,,,,128789002,,,, 2128,non_specific_x_linked_mental_retardation,,,,,,,, 2129,schneckenbecken_dysplasia,,,,,,C536637,Q77.7,254049009 2130,rapadilino_syndrome,,,,,,C535288,Q87.1, 2131,pulsating_exophthalmos,,376.35,,2284002,,,, 2132,paraganglioma,paraganglioma,,D010235,,,,, 2133,plantar_verrucous_skin_carcinoma,,,,,,,, 2134,larynx_verrucous_carcinoma,,,,,,,, 2135,hermansky_pudlak_syndrome,,,D022861,190697008|60255003|9311003,,,, 2136,antithrombin_iii_deficiency,,,D020152,36351005,,,D68.5, 2137,vitiligo,vitiligo,709.01,D014820,156437000|56727007,L80,,, 2138,protein_c_deficiency,protein_c_deficiency,,D020151,76407009,,,, 2139,splenic_marginal_zone_lymphoma,splenic_marginal_zone_lymphoma,,,,,,C26.1, 2140,prolapse_of_urethra,urethrocele,618.03,,12068006|197935003,,,, 2141,labia_minora_carcinoma,,184.2,,363447008|93851005,C51.1,,, 2142,bronchopneumonia,bronchopneumonia,485,D001996,396285007|195914001|266352008|155551009|67814005,J18.0,,, 2143,juvenile_spinal_muscular_atrophy,,335.11,D014897|C536882,54280009,,,G12.1, 2144,patulous_eustachian_tube,patulous_eustachian_tube,381.7,,30280005,H69.0,,, 2145,viral_labyrinthitis,,078.81|386.35,,409711008|34243007|43680000|186738001,A88.1,,, 2146,meckel_syndrome,meckel_syndrome,,,,,,, 2147,joubert_syndrome,joubert_syndrome,,,,,,, 2148,ltnew_termgt,,,,,,,, 2149,thyrotoxic_exophthalmos,thyrotoxic_exophthalmos,376.21,,19885005,,,, 2150,phaeochromocytoma,phaeochromocytoma,,,,,,, 2151,intermittent_proptosis,,376.34,,49774006,,,, 2152,polycystic_liver_disease,polycystic_liver_disease,,,,,C536330,Q44.6,72925005 2153,lateral_displacement_of_eye,,376.36,,48747004|194018005,,,, 2154,graves_disease,graves_disease,,D006111,190240002|237510004|367449005|237823003|367367004|38591003|267464006|353295004|154655004|55807009,,,, 2155,amyotrophic_lateral_sclerosis_type_8,,,,,,,, 2156,retroperitoneum_carcinoma,,,,,C48.0,,, 2157,t_cell_large_granular_lymphocyte_leukemia,t-cell_large_granular_lymphocyte_leukemia,,,,,D054066,C91.5,128819001|55081009 2158,paramyloidosis,,,,,,,, 2159,alcoholic_hepatitis,alcoholic_hepatitis,571.1,,155810001|9953008,K70.1,,, 2160,x_linked_myopathy_with_excessive_autophagy,,,,,,,G71.8, 2161,retroperitoneal_lymphoma,,,,,,,, 2162,varicocele,varicocele,456.4,D014646,155480003|195480007|51070004|46871008,I86.1,,, 2163,male_genital_organ_vascular_disease,,608.83,,198057005,N50.1,,, 2164,myotonic_dystrophy_type_2,,,,,,D020967,G71.1, 2165,metabolic_acidosis,metabolic_acidosis,,,,,,, 2166,deafness_dystonia_syndrome,,,,,,,, 2167,batten_disease,batten_disease,,,,,,, 2168,ataxia_with_oculomotor_apraxia_type_2,,,,,,,, 2169,ataxia_with_oculomotor_apraxia_type_1,,,,,,,, 2170,chorea_acanthocytosis,chorea-acanthocytosis_syndrome,,,,,,, 2171,n_syndrome,,,,,,C536108,Q87.8, 2172,mitochondrial_complex_v_atp_synthase_deficiency_nuclear_type_1,,,,,,,G71.3, 2173,arc_syndrome,arc_syndrome,,,,,,, 2174,adenylosuccinase_lyase_deficiency,,,,,,,, 2175,prostatocystitis,,601.3,,67685000,N41.3,,, 2176,armfield_syndrome,,,,,,,, 2177,primary_eye_hypotony,,360.31,,2251002,,,, 2178,midface_dysplasia,,,,,,,, 2179,osteogenesis_imperfecta,osteogenesis_imperfecta,,D010013|C536040,254109004|254108007|205498009|254106006|205494006|205492005|254107002|385482004|254105005|205493000|268352002|78314001|157008000|3508009,,,, 2180,mantle_cell_lymphoma,mantle_cell_lymphoma,,,,C83.1,D020522,C83.1,443487006|74654000 2181,lymphoplasmacytic_lymphoma,lymphoplasmacytic_lymphoma,,,,,,, 2182,anaplastic_large_cell_lymphoma,anaplastic_large-cell_lymphoma,,,,,D017728,C83.3,277637000 2183,diffuse_large_b_cell_lymphoma,,,,,,D016403,C83.3,109969005|46732000 2184,central_nervous_system_chondroma,,,,,,,, 2185,glossopharyngeal_nerve_paralysis,,,,,,,, 2186,extraskeletal_chondroma,extraskeletal_chondroma,,,,,,, 2187,bladder_urachal_squamous_cell_carcinoma,,,,,,,, 2188,chromophobe_adenoma,,,D000238,37039006,,,, 2189,nicotine_dependence,,,,,,,, 2190,epidural_spinal_canal_meningioma,,,,,,,, 2191,qazi_markouizos_syndrome,,,,,,C536259,, 2192,alcohol_dependence,alcohol_dependence,,,,,,, 2193,acalculous_cholecystitis,,,D042101,19968009,K81.0,,, 2194,posterior_cerebral_artery_infarction,,,D020762,,,,, 2195,shwartzman_phenomenon,shwartzman_phenomenon,,D012790,24453002,,,, 2196,congenital_diaphragmatic_hernia,congenital_diaphragmatic_hernia,,D006551|D006548,155748004|266444006|266511003|196911004|196901006|155750007|39839004|196912006,K44|K44.0|K44.1|K44.9|Q79.0,,, 2197,toxicodendron_dermatitis,toxicodendron_dermatitis,,D011040,410049000,,,, 2198,photoallergic_dermatitis,,,D017454,111209006|367334003|238524002|238523008,,,, 2199,coenzyme_q10_deficiency_disease,,,,,,,G31.8, 2200,methylmalonic_aciduria_and_homocystinuria_type_cble,,,,,,,, 2201,geotrichosis,geotrichosis,,D005847,187105008|13969006,B48.3,,, 2202,y_linked_disease,,,,,,,, 2203,dehydration_polycythemia,,,,,,,, 2204,polycythemia_due_to_hypoxia,,,,,,,, 2205,methylmalonic_aciduria_and_homocystinuria_type_cblg,,,,,,,, 2206,congenital_intrinsic_factor_deficiency,,,,,,,, 2207,phgdh_deficiency,,,,,,,E72.8,303098002 2208,psat_deficiency,,,,,,,E72.8, 2209,neutral_lipid_storage_disease,neutral_lipid_storage_disease,,,,,C536560,E75.5,19604005 2210,jervell_lange_nielsen_syndrome,jervell-lange_nielsen_syndrome,,D029593|C537570,373905003|49518001,,,, 2211,tyrosinemia_type_i,,,,,,,E70.2,410056006 2212,ovarian_mixed_germ_cell_neoplasm,,,,,,,, 2213,tyrosinemia_type_iii,,,,,,,E70.2,413356003|415764005 2214,erythropoietin_polycythemia,,,,367328005|43918003,,,, 2215,stress_polycythemia,,,,191371001|36874002,,,D75.1,36874002|48250002 2216,bruxism,bruxism,327.53,D020186|D002012,192436003|274950005|90207007|191983006|154925009|268774006|367105000,,,, 2217,crigler_najjar_syndrome,crigler-najjar_syndrome,,D003414,8933000|28259009|190933008,E80.5,D003414|C536212,E80.5,28259009|8933000 2218,porokeratosis,,,D017499,80432009|201086003|400080004|238630009|41495000,,,, 2219,melancholia,melancholia,,D003866,35489007,,,, 2220,psph_deficiency,,,,,,,E72.8, 2221,ornithine_translocase_deficiency,,,,,,,E72.4, 2222,angiokeratoma_circumscriptum,,,,21848000,,,, 2223,angiokeratoma_of_mibelli,,,,62727008,,,, 2224,euthyroid_sick_syndrome,euthyroid_sick_syndrome,790.94,D005067,237542005,,,, 2225,cerebral_folate_receptor_alpha_deficiency,,,,,,,, 2226,methylmalonic_aciduria_and_homocystinuria_type_cbld,,,,,,,, 2227,hyperthyroxinemia,hyperthyroxinemia,,D006981,,,,, 2228,methylmalonic_aciduria_and_homocystinuria_type_cblf,,,,,,C537359,E72.1, 2229,fatal_infantile_encephalocardiomyopathy,,,,,,,G71.3, 2230,alcaptonuria,alcaptonuria,,C531608|D000474,367388008|24250001|267418001|360378009|190689001|124207005|360381004,,C537862|D000474,E70.2,360378009|360381004 2231,methylmalonic_aciduria_and_homocystinuria_type_cblc,,,,,,,E72.1, 2232,agat_deficiency,,,,,,,E72.8, 2233,hemoglobin_c_disease,hemoglobin_c,,D006445,51053007,,D006445,D58.2,51053007 2234,congenital_nonspherocytic_hemolytic_anemia,,,D000746,82775009|301317008|300389006,,,, 2235,large_cell_medulloblastoma,,,,128790006,,,, 2236,apocrine_adenosis_of_breast,,,,,,,, 2237,blunt_duct_adenosis_of_breast,,,,,,,, 2238,peutz_jeghers_syndrome,peutz-jeghers_syndrome,,D010580,277161008|54411001|157029009|53633000,,D010580,Q85.8,54411001 2239,early_onset_absence_epilepsy,,,,,,,, 2240,ohtahara_syndrome,ohtahara_syndrome,,,,,,, 2241,3_methylcrotonyl_coa_carboxylase_deficiency,,,,,,,, 2242,aceruloplasminemia,aceruloplasminemia,,,,,,, 2243,internal_auditory_canal_meningioma,,,,,,,, 2244,adult_central_nervous_system_primitive_neuroectodermal_neoplasm,,,,,,,, 2245,melanotic_medulloblastoma,,,,83217000|397380008,,,, 2246,childhood_medulloblastoma,,,D008527,,,,, 2247,cerebellar_vermis_medulloblastoma,,,,,,,, 2248,medullomyoblastoma,,,D008527,24604009,,,, 2249,adult_medulloblastoma,,,D008527,,,,, 2250,adamantinous_craniopharyngioma,,,D003397,134216001|128781004,,,, 2251,kidney_osteogenic_sarcoma,,,,,,,, 2252,kidney_fibrosarcoma,,,,,,,, 2253,prostate_leiomyoma,,,,,,,, 2254,benign_prostate_phyllodes_tumor,,,,,,,, 2255,prostatic_adenoma,,,D011470,21173002|270536001|197957005|155906003|266569009,,,, 2256,kidney_pelvis_papillary_carcinoma,,,,,,,, 2257,nodular_degeneration_of_cornea,,371.46,,72620002,,,, 2258,papillary_craniopharyngioma,,,D003397,128782006|134215002,,,, 2259,epidermolysis_bullosa_dystrophica,epidermolysis_bullosa_dystrophica,,D016108,205587006|254185007,Q81.2,,Q81.2,254185007 2260,postpoliomyelitis_syndrome,postpoliomyelitis_syndrome,,D016262,31097004|367094007,G14,,G14, 2261,exocervical_carcinoma,,,,372100004,C53.1,,, 2262,gastroesophageal_junction_adenocarcinoma,,,,,,,, 2263,adenocarcinoma_in_situ,,,,51642000,,,, 2264,meninges_hemangiopericytoma,,,,277522009,,,, 2265,tubular_adenocarcinoma,,,D000230,4631006,,,, 2266,rift_valley_fever,rift_valley_fever,,D012295,7077006|402917003,A92.4,,A92.4, 2267,renal_pelvis_adenocarcinoma,,,,,,,, 2268,focal_segmental_glomerulosclerosis,focal_segmental_glomerulosclerosis,,,,,,, 2269,bronchiolo_alveolar_adenocarcinoma,,,D002282,112677002|307595008|36310008|373627005,,,, 2270,klatskins_tumor,klatskin_tumor,,D018285,253017000|6492006,,D018285,C22.1,253017000|6492006 2271,nasal_cavity_adenocarcinoma,,,,,,,, 2272,ureter_adenocarcinoma,,,,,,,, 2273,basophilic_carcinoma,,,,47107000,,,, 2274,villous_adenocarcinoma,,,,28558000,,,, 2275,bird_fanciers_lung,,495.2,D001716,69339004|195987000,J67.2,D001716,J67.2,85407005 2276,small_intestine_adenocarcinoma,,,,424440001,,,, 2277,granular_cell_carcinoma,,,D000230,69028005,,,, 2278,malignant_neoplasm_of_acoustic_nerve,,,,188310002|93660000|254980001,C72.4,,, 2279,middle_lobe_syndrome,,,D008878,28295001,,,, 2280,sick_sinus_syndrome,sick_sinus_syndrome,,D012804,266307005|155373001|36083008,I49.5,,, 2281,acute_interstitial_pneumonia,acute_interstitial_pneumonia,,,45157009|35037009|236302005|129459004,,,J84.8,196125002|236302005 2282,nonspecific_interstitial_pneumonia,nonspecific_interstitial_pneumonia,,,129452008,,,J84.8,129452008 2283,facial_neuralgia,,,D005156,,,,, 2284,malignant_oculomotor_nerve_tumor,,,,93929003,,,, 2285,multiple_cranial_nerve_palsy,,352.6,,193100000|193103003|78152008,,,, 2286,focal_labyrinthitis,,386.32,,61794006|194364005,,,, 2287,trochlear_nerve_disease,trochlear_nerve,,D020432,230532006|20610004|14904006|6845000,,,, 2288,alcoholic_liver_cirrhosis,,571.2,D008104,155811002|420054005|235894003|75393009|266467008|197280008,K70.3,,, 2289,vulvitis,vulvitis,,D014847,266586003|266655004|155981006|63144007|198214007,,,, 2290,brucella_canis_brucellosis,,023.3,,186308009|428174001|78576009,A50-A64|A31|P39.9,,, 2291,pediatric_cns_choriocarcinoma,,,,,,,, 2292,bronchogenic_carcinoma,bronchogenic_carcinoma,162.9,D002283,363493006|154485001|254622008|269561006|269465004|187875007|190092003,,,, 2293,hypoactive_sexual_desire_disorder,hypoactive_sexual_desire_disorder,302.71,D020018,112096004|192464008|270903007|78889008,R62.9,,, 2294,adult_central_nervous_system_choriocarcinoma,,,,,,,, 2295,autoimmune_disease_of_musculoskeletal_system,,,,,,,, 2296,cerebral_angioma,,,,,,,, 2297,atypical_autism,atypical_autism,,,,F84.1,,F84.1,231536004 2298,x_linked_hyper_igm_syndrome,,,D053306,82286005,,,, 2299,cervical_adenoma_malignum,,,,,,,, 2300,algoneurodystrophy,algoneurodystrophy,733.7,,203496006|203490000|7359008,M89.0,,, 2301,tietzes_syndrome,tietze_syndrome,733.6,D013991,30128009|240136001|203523006|64109004|91226007|156848001|268130001|203529005|203323007|393606005,,,, 2302,folic_acid_deficiency_anemia,,281.2,,85649008|191152006|154791000,D52|D52.9,,, 2303,munchausen_by_proxy,munchausen_by_proxy,,,,,,, 2304,gluten_allergic_reaction,,,,,,,, 2305,breast_large_cell_neuroendocrine_carcinoma,,,,,,,, 2306,cervical_large_cell_neuroendocrine_carcinoma,,,,,,,, 2307,malignant_visceral_pleura_tumor,,,,94140004,,,, 2308,malignant_parietal_pleura_tumor,,,,93948004,,,, 2309,eosinophilia_myalgia_syndrome,eosinophilia-myalgia_syndrome,710.5,D016603,95416007,,,, 2310,aorta_atresia,atresia_of_aorta,747.22,,204431007|204438001,Q25.2,,, 2311,uterine_inversion,uterine_inversion,665.2,D019687,267347009|156233003|156232008|27215002,,,, 2312,poems_syndrome,poems_syndrome,,D016878,79268002,,D016878,D47.7,425657001|79268002 2313,rubeosis_iridis,rubeosis_iridis,364.42,,51995000,,,, 2314,non_hodgkin_lymphoma,,,,,C85.7,,, 2315,familial_juvenile_hyperuricemic_nephropathy,,,,,,,, 2316,x_linked_sideroblastic_anemia,,,,,,C536761,D64.0, 2317,autonomic_peripheral_neuropathy,,,,,,,, 2318,childhood_central_nervous_system_immature_teratoma,,,,,,,, 2319,diffuse_idiopathic_skeletal_hyperostosis,diffuse_idiopathic_skeletal_hyperostosis,721.6,D004057|C537073,31487001|55815007,,,, 2320,splenic_artery_aneurysm,,442.83,,70405009,,,, 2321,thoracic_aortic_aneurysm,thoracic_aortic_aneurysm,441.2,D017545,195259003|433068007|74883004|155421001,I71.2,,, 2322,pyridoxine_refractory_autosomal_recessive_sideroblastic_anemia,,,,,,,D64.0, 2323,baastrups_syndrome,,721.5,,202681007|82304009,M48.2,,, 2324,marantic_endocarditis,marantic_endocarditis,,,,,,, 2325,adult_pineoblastoma,,,,,,,, 2326,pearson_syndrome,pearson_syndrome,,,,,,D64.0,237985009 2327,breast_juvenile_papillomatosis,,,,,,,, 2328,pyridoxine_responsive_sideroblastic_anemia,,,,,,,, 2329,tooth_and_nail_syndrome,tooth_and_nail_syndrome,,C536736,239039003|400036004|68897000,,,Q82.4, 2330,diffuse_infiltrative_lymphocytosis_syndrome,diffuse_infiltrative_lymphocytosis_syndrome,,,,,,, 2331,ductal_carcinoma_in_situ,ductal_carcinoma_in_situ,,,,,,, 2332,progesterone_receptor_positive_breast_cancer,,,,,,,, 2333,progesterone_receptor_negative_breast_cancer,,,,,,,, 2334,froelichs_syndrome,,,D007027,62999006,,,, 2335,estrogen_receptor_positive_breast_cancer,,,,,,,, 2336,estrogen_receptor_negative_breast_cancer,,,,,,,, 2337,her2_receptor_positive_breast_cancer,,,,,,,, 2338,immature_cataract,,366.12,,52421005|193585003|193584004,H25.0,,, 2339,episodic_ataxia,episodic_ataxia,,D020386,230653006|80138003|305719002,,,G71.1, 2340,triple_receptor_negative_breast_cancer,,,,,,,, 2341,her2_receptor_negative_breast_cancer,,,,,,,, 2342,neurofibroma_of_the_esophagus,,,,,,,, 2343,omsk_hemorrhagic_fever,omsk_hemorrhagic_fever,065.1,D006481,48113006,A98.1,,A98.1, 2344,acute_dacryoadenitis,,375.01,,2589008,,,, 2345,esophagus_leiomyoma,,,,276805005,,,, 2346,nutritional_optic_neuropathy,nutritional_optic_neuropathy,377.33,,82108004,,,, 2347,rett_syndrome,rett_syndrome,,C531806|D015518,68618008|192583003,F84.2,D015518,F84.2,68618008 2348,testicular_monophasic_choriocarcinoma,,,,,,,, 2349,barre_lieou_syndrome,,,D055010|C538495,17300000,M53.0,,, 2350,aagenaes_syndrome,aagenaes_syndrome,,C535330,28724005,,,Q82.0, 2351,mitral_valve_prolapse,mitral_valve_prolapse,,D008945,8074002|155386005|194977007|42069006|194980008|45023003|409712001,,,, 2352,congenital_heart_block,,746.86,C535758,204382006|204381004|46619002|156924006|204385008,Q24.6,C535758,Q24.6,46619002 2353,achard_syndrome,achard_syndrome,,C536012,,,,, 2354,achenbach_syndrome,achenbach_syndrome,,,238824006,,,, 2355,autoimmune_lymphoproliferative_syndrome,autoimmune_lymphoproliferative_syndrome,279.41,D056735,,,D056735,D72.8|D89.8, 2356,angioid_streaks_of_choroid,,363.43,,86103006,,,, 2357,diffuse_secondary_choroid_atrophy,,363.42,,193463006|1843008,,,, 2358,aarskog_scott_syndrome,,,C535331,205809002|14921002,,,Q87.1, 2359,spondylolisthesis,spondylolisthesis,,D013168,274152003|268349005|157003009,M43.1,,, 2360,capgras_syndrome,capgras_syndrome,,D002194,44906001,,,, 2361,strongyloidiasis,strongyloidiasis,127.2,D013322,1214006|187537002|187177001,B78|B78.7|B78.9,D013322,B78,1214006 2362,hereditary_wilms_tumor,wilms_tumor_1,,,,,,, 2363,blastema_predominant_kidney_wilms_tumor,,,,,,,, 2364,oesophagostomiasis,,,D009814,22500005,,,, 2365,gastroduodenitis,,535.4,,196737009|196742001,K29.9,,, 2366,subacute_delirium,,293.1,D003693,191507002,,,, 2367,hodgkins_paragranuloma,,,,,,,, 2368,duodenitis,duodenitis,535.6,D004382,155715004|72007001,K29.8,,, 2369,tongue_cancer,tongue_cancer,141|141.9,D014062,93868009|94101009|187633009|187644001|187636001|93687001|187642002|94134006|187632004|187637005|363375006|93848003|187646004|363376007|363377003|93773005|371974006|94100005|187638000,C01|C02.0|C02.1|C02.2|C02.3|C02.4,,, 2370,duodenal_somatostatinoma,,,,,,,, 2371,chronic_inflammatory_demyelinating_polyradiculoneuropathy,,,D020277,128209004,,,, 2372,hodgkins_lymphoma_mixed_cellularity,,201.6,D006689,41529000|188574000|188583005|118609008,C81.2,,, 2373,chickenpox,chickenpox,052,D002644,154325003|186508005|38907003,B01|B01.8|B01.9,,, 2374,posterior_urethra_cancer,,,,,,,, 2375,osgood_schlatters_disease,,,D055034,72047008|79353000|430642003|268124001|156820001,,,M93.2,72047008 2376,von_economos_disease,,,,186500003|186499007|20411005,,,A85.8,186499007 2377,acute_hemorrhagic_encephalitis,,,,,,,, 2378,infertility,infertility,,D007246,289179008|8619003|162186008,,,, 2379,acute_necrotizing_encephalitis,,,D004684,111897007,,,, 2380,large_cell_carcinoma_with_rhabdoid_phenotype,large-cell_lung_carcinoma_with_rhabdoid_phenotype,,,128629005,,,, 2381,ostertagiasis,,,D010029,,,,, 2382,endometrium_carcinoma_in_situ,,,,92582009|189343006,D07.0,,, 2383,vaginal_endometrial_stromal_tumor,,,,,,,, 2384,vaginal_endometrial_stromal_sarcoma,,,,,,,, 2385,renal_wilms_tumor,,,,,,,, 2386,epithelial_predominant_wilms_tumor,,,,,,,, 2387,hallervorden_spatz_syndrome,hallervorden-spatz_syndrome,,D006211,2992000,G23.0,D006211,G23.0, 2388,spastic_quadriplegia,spastic_quadriplegia,343.2,D002547,275468009|192953000,G80.0,,, 2389,cholesteatoma_of_attic,,385.31,,38708003,,,, 2390,spastic_diplegia,spastic_diplegia,,D002547,192947000|281411007|1178005,,,, 2391,spastic_monoplegia,spastic_monoplegia,343.3,D002547,,G83.3,,, 2392,lipoid_nephrosis,,,D009402,197592009|44785005,,,, 2393,spastic_hemiplegia,spastic_hemiplegia,343.1,,43486001|258714003,G80.2|G81.1,,, 2394,metachronous_kidney_wilms_tumor,,,,,,,, 2395,thyroid_medullary_carcinoma,medullary_thyroid_carcinoma,,C536914,32913002|255032005|128916007,,C536914|C536911,C73,255032005 2396,mixed_cell_type_kidney_wilms_tumor,,,,,,,, 2397,merkel_cell_carcinoma,merkel_cell_carcinoma,,,29792007,,,, 2398,papillary_follicular_thyroid_adenocarcinoma,,,D018265,21968007|189643000,,,, 2399,membranous_glomerulonephritis,membranous_glomerulonephritis,,D015433,197710000|77182004,,,, 2400,trabecular_follicular_adenocarcinoma,,,,72174007,,,, 2401,acute_salpingo_oophoritis,,614.0,,155969007|198132003|266581008|198139007|198134002,N70.0,,, 2402,cervical_wilms_tumor,,,,,,,, 2403,acute_hemorrhagic_leukoencephalitis,acute_hemorrhagic_leukoencephalitis,,D004684,72986009,,,, 2404,basal_ganglia_cerebrovascular_disease,,,D020144,,,,, 2405,fallopian_tube_adenomatoid_tumor,,,,,,,, 2406,intermixed_schwannian_stroma_rich_ganglioneuroblastoma,,,,,,,, 2407,stromal_predominant_kidney_wilms_tumor,,,,,,,, 2408,adiposis_dolorosa,,,D000274,71404003,,D000274,E88.2,71404003 2409,focal_glomerulosclerosis,,,D005923,236403004|25821008,,,, 2410,pituitary_dependent_cushings_disease,,,D047748,190502001|9545009,,,, 2411,dartoic_leiomyoma,dartoic_leiomyoma,,,254770007,,,, 2412,appendix_leiomyoma,,,,,,,, 2413,transsexualism,transsexualism,302.50,,191782007,F64.0,,, 2414,epithelioid_neurofibroma,,,,404032008,,,, 2415,benign_essential_hypertension,,401.1,,194758001|1201005,,,, 2416,wernicke_korsakoff_syndrome,wernicke-korsakoff_syndrome,,D020915,268745002|154854002|191470004|191472007|69482004,,,, 2417,gallbladder_leiomyoma,,,,,,,, 2418,vulvar_leiomyoma,,,,,,,, 2419,adrenal_carcinoma,adrenal_carcinoma,,D000310,255035007|363355002|188338005|93665005|188337000|127021009,C74,,, 2420,ureteral_obstruction,,593.4,,197807001,,,, 2421,adrenal_cortical_adenocarcinoma,,,,,,,, 2422,alport_syndrome,alport_syndrome,,D009394,57333009|399340005,,,Q87.8, 2423,conjunctival_vascular_disease,,372.74,,74100001|193900004,,,, 2424,discitis,discitis,,D015299,2304001,M46.4,,, 2425,pericardium_leiomyoma,,,,,,,, 2426,leiomyoma_cutis,,,,254767008,,,, 2427,autoimmune_disease_of_central_nervous_system,,,,,,,, 2428,gastrojejunal_ulcer,,534.0,,196709002|63954007,K28|K28.0|K28.1|K28.2|K28.3|K28.4|K28.5|K28.6|K28.7,,, 2429,cellular_leiomyoma,,,,90955001,,,, 2430,artemis_deficiency,,,,,,,, 2431,cd3zeta_deficiency,,,,,,,, 2432,janus_kinase_3_deficiency,janus_kinase_3_deficiency,,,,,,, 2433,mhc_class_i_deficiency,,,,,D81.6,,D81.6, 2434,c1_inhibitor_deficiency,c1_inhibitor_deficiency,,,,,,, 2435,anus_leiomyoma,,,,,,,, 2436,anterior_compartment_syndrome,,,D000868,269407005|157669006|212379008,,,, 2437,sickle_cell_anemia,sickle_cell_anemia,282.60|282.6,D000755,35434009|417357006|191199004|276267006|154798006|191195005|80046004|127040003|191194009,D57.0|D57.1,D000755,D57|D57.2,127040003|417357006 2438,siberian_tick_typhus,siberian_tick_typhus,082.2,,7692008|186782005|186783000|186781003,,,, 2439,arteriolosclerosis,arteriolosclerosis,,D050379,17941002,,,, 2440,arteriosclerosis_obliterans,,,D001162,60625000|361133006,,,, 2441,monckeberg_arteriosclerosis,,,,,,,, 2442,pancreatic_serous_cystic_neoplasm,,,,,,,, 2443,pancreatic_serous_cystadenoma,pancreatic_serous_cystadenoma,,,,,,, 2444,leukocyte_adhesion_deficiency,leukocyte_adhesion_deficiency,,D018370,77358003,,D018370|C535887,D84.8,77358003|234582006 2445,ovarian_endometrioid_stromal_sarcoma,,,,,,,, 2446,gamma_chain_deficiency,,,D053632,203592006|234569003,,,D81.2, 2447,cd45_deficiency,,,,,,,, 2448,vaginal_villous_adenoma,,,,,,,, 2449,antisocial_personality_disorder,,301.7,D000987,191777000|191769004|26665006|192487000|268759009,F60.2,,, 2450,cd3delta_deficiency,,,,,,,, 2451,omenn_syndrome,,,,,D81,,D81.8, 2452,bone_epithelioid_hemangioma,,,,,,,, 2453,interleukin_7_receptor_alpha_deficiency,,,,,,,, 2454,recombinase_activating_gene_2_deficiency,,,,,,,, 2455,paranoid_personality_disorder,,301.0,D010260,13601005|154896003|192485008|270529002|191750009,F60.0,,, 2456,dependent_personality_disorder,,301.6,D003859,191768007|192492003|84466009,F60.7,,, 2457,multiple_personality_disorder,multiple_personality_disorder,300.14,D009105,31611000|192428007,,,, 2458,obsessive_compulsive_disorder,obsessive-compulsive_disorder,300.3,D009771,192411009|71478004|192406007|191736004|191739006,F42,,, 2459,schizoid_personality_disorder,,301.20|301.2,D012557,52954000|191758002|192486009|191756003,F60.1,,, 2460,recombinase_activating_gene_1_deficiency,,,,,,,, 2461,diffuse_lipomatosis,,,,,,,, 2462,obsessive_compulsive_personality_disorder,obsessive-compulsive_personality_disorder,301.4,D003193,191760000|1376001|191762008|191761001|271200007|154899005|192490006|112091009,,,, 2463,mediastinal_lipomatosis,,,,,,,, 2464,steroid_lipomatosis,,,,,,,, 2465,borderline_personality_disorder,borderline_personality_disorder,301.83,D001883,20010003|192488005,,,, 2466,cd3epsilon_deficiency,,,,,,,, 2467,main_bronchus_cancer,,162.2,,187859009|372065009|154487009|269563009|187856002,C34.0,,, 2468,cd3gamma_deficiency,,,,,,,, 2469,bronchogenic_lung_adenocarcinoma,,,,,,,, 2470,pelvic_lipomatosis,,,C535549,190802005,,,, 2471,coronin_1a_deficiency,,,,,,,, 2472,plexiform_neurofibroma,plexiform_neurofibroma,,D018318,403818001|41252002,,,, 2473,cellular_neurofibroma,,,,,,,, 2474,neurofibroma_of_gallbladder,,,,,,,, 2475,autoimmune_disease_of_eyes_ear_nose_and_throat,,,,,,,, 2476,kummells_disease,,721.7,,268075001|65753008|202682000|240218006|156628006|111232005,M48.3,,, 2477,immunoglobulin_beta_deficiency,,,,,,,, 2478,multiple_mucosal_neuroma,multiple_mucosal_neuroma_syndrome,,,,,,, 2479,b_cell_linker_protein_deficiency,,,,,,,, 2480,atypical_neurofibroma,,,,,,,, 2481,borna_disease,borna_disease,,D001890,76851008,,,, 2482,lambda_5_deficiency,,,,,,,, 2483,benign_pleural_mesothelioma,,,,,D19.0,,, 2484,immunoglobulin_alpha_deficiency,,,,,,,, 2485,cd40_deficiency,,,,,,,D80.5, 2486,dna_ligase_iv_deficiency,,,,,,,D81.1, 2487,cd40_ligand_deficiency,,,,,,,, 2488,reticular_dysgenesis,reticular_dysgenesis,,C538361,111584000,,C538361,D81.0,111584000|350353007 2489,classic_variant_of_chromophobe_renal_cell_carcinoma,,,,,,,, 2490,endobronchial_leiomyoma,,,,,,,, 2491,progeria,progeria,,D011371,46238000|190590004|238870004|238869000,,D011371,E34.8,238870004 2492,autoimmune_disease_of_exocrine_system,,,,,,,, 2493,nervous_system_hibernoma,,,,,,,, 2494,good_syndrome,good_syndrome,,,,,,, 2495,eosinophilic_variant_of_chromophobe_renal_cell_carcinoma,,,,,,,, 2496,intracranial_aneurysm,intracranial_aneurysm,,D002532,42994005|128609009,,,, 2497,hyperlipoproteinemia_type_v,hyperlipoproteinemia_type_v,,C538379|D006954,34349009|190781009,,D006954,E78.3,34349009 2498,hyperlipoproteinemia_type_iv,hyperlipoproteinemia_type_iv,272.1,D006953,267433009|129589009|154741004|190779007|34528009|238085009,,,, 2499,factor_xi_deficiency,factor_xi_deficiency,286.2,C537513|D005173,49762007,D68.1,,, 2500,thrombocytosis,thrombocytosis,,D013922,165557006|142970009|6631009|79574003|415115007,,,, 2501,disseminated_eosinophilic_collagen_disease,,,,423486005|26328002,,,, 2502,testicular_infarct,,,,33793000,,,, 2503,inner_ear_cancer,,,,,,,, 2504,auricular_cancer,,,D004428,,,,, 2505,hemorrhagic_thrombocythemia,,238.71,D013920,234499005|191333009|128844009|189508006|189514004|109994006|189513005|65471002|307652003,D47.3,,, 2506,megakaryocytic_tumor,,,,,,,, 2507,factor_x_deficiency,factor_x,,D005171,76642003,,,D68.2, 2508,platelet_storage_pool_deficiency,,,D010981,128099001|234474009|9417000,,,, 2509,unilateral_hypoactive_labyrinth,,386.53,,81585005|194374008,,,, 2510,granulomatous_hepatitis,,,,86514004,K75.3,,, 2511,factor_xii_deficiency,factor_xii,,D005175,46981006,,,D68.2, 2512,prothrombin_deficiency,hypoprothrombinemia,,D007020,73975000|191283001,,,, 2513,congenital_afibrinogenemia,,,D000347,359727008|29718007|278504009|234621005,,,D68.2, 2514,dermoid_cyst_of_ovary,,,D003884,154618004|119424003|269641006|189116006|189117002|439575008|416529009|417137001|123151001|189845005|72277008|417609007|419952004,,,, 2515,ovarian_cystic_teratoma,,,,,,,, 2516,swayback,swayback,,D013540,78714004,,,, 2517,fallopian_tube_leiomyoma,,,,,,,, 2518,extrahepatic_bile_duct_leiomyoma,,,,,,,, 2519,mediastinum_leiomyoma,,,,,,,, 2520,deep_leiomyoma,,,,,,,, 2521,simple_partial_epilepsy,,345.51,,,,,, 2522,central_nervous_system_leiomyoma,,,,,,,, 2523,bizarre_leiomyoma,,,,48897006,,,, 2524,ischemic_neuropathy,,,,230599000|129611009,,,, 2525,spondylosis,spondylosis,721.9,D055009,268075001|156628006|202701004|267973008|268074002|202704007|8847002|156622007,M47|M47.9,,, 2526,hypertrophic_elongation_of_cervix,,622.6,,35863000|198353000,,,, 2527,nail_patella_syndrome,nail-patella_syndrome,,C538541|D009261,22199006,,D009261,Q87.2,22199006 2528,fatty_liver_disease,,571.0,D005235|D005234,5360002|50325005|371330000|197321007|390002007,K70.0|K76.0,,, 2529,isthmus_cancer,,182.1,,,,,, 2530,apocrine_adenoma,tubular_apocrine_adenoma,,,36318001|307596009,,,, 2531,hidrocystoma,hidrocystoma,,D018251,80549000,,,, 2532,insulinoma,insulinoma,,D007340,134154009|189586007|302822000|25324008|76345009,,D007340,D13.7,25324008|302822000 2533,placental_insufficiency,placental_insufficiency,,D010927,199610002|156185006|237292005|267337006,,,, 2534,acute_intermittent_porphyria,acute_intermittent_porphyria,,D017118,90842001|234422006|190914003,,D017118,E80.2,234422006 2535,meckels_diverticulum,meckels_diverticulum,751.0,D008467,264256006|156955000|204685004|253775007|204690001|204689005|204686003|37373007|127962001,Q43.0,,, 2536,coagulation_protein_disease,,,D020147,,,,, 2537,ulcerative_blepharitis,,373.01,,91662004,,,, 2538,factor_xiii_deficiency,,,D005177,18604004|50189006,,,, 2539,sheehan_syndrome,,,D007018,154703006|290653008|267482009|237684005|190469009|15045007,,,E23.0,237684005|290653008 2540,colonic_pseudo_obstruction,colonic_pseudo-obstruction,,D003112,35065006,,,, 2541,postpartum_depression,postpartum_depression,,D019052,154889000|147016002|58703003|191740008|268753005|192475007|279225001,,,, 2542,childhood_central_nervous_system_primitive_neuroectodermal_neoplasm,,,,,,,, 2543,nodular_medulloblastoma,,,,,,,, 2544,exposure_keratitis,,370.34,,14366000,,,, 2545,cholesteatoma_of_external_ear,,380.21,,35247001,H60.4,,, 2546,bernard_soulier_syndrome,bernard-soulier_syndrome,,D001606,191309003|234478007|54569005,,,, 2547,glanzmanns_thrombasthenia,,,C536518|D013915,32942005|30577005|191310008,,,D69.1,32942005 2548,esophagus_melanoma,,,,,,,, 2549,esophagus_lymphoma,,,,,,,, 2550,allergic_asthma,,493.0,,389146007|266396008|389145006|155575009|233680000|195972005|266358007|195968006|16862005,,,, 2551,occipital_lobe_neoplasm,,191.4,,93928006|126957005|363470000,C71.4,,, 2552,panhypopituitarism,panhypopituitarism,253.2,D007018,267481002|154700009|32390006|190469009|190475000,,,, 2553,peliosis_hepatis,peliosis_hepatis,,D010382,58008004|197366003|240625009,K76.4,,, 2554,liver_leiomyoma,,,,,,,, 2555,liver_inflammatory_pseudotumor,,,,,,,, 2556,factor_v_deficiency,factor_v,,D005166,88776002|191284007|4320005|366160003|365157004,,,D68.2, 2557,factor_vii_deficiency,factor_vii,,D005168,154820003|37193007,,,D68.2, 2558,hypertensive_encephalopathy,hypertensive_encephalopathy,437.2,D020343,50490005|195225002|155408008,I67.4,,, 2559,monieziasis,,,D008989,,,,, 2560,gastric_signet_ring_cell_adenocarcinoma,,,,,,,, 2561,smoldering_myeloma,smoldering_myeloma,,,,,,, 2562,renal_glycosuria,renal_glycosuria,271.4,D006030,154737003|236367002|267430007|226309007|367418000|1913007|190759004,,,E74.8, 2563,dientamoebiasis,dientamoebiasis,,D004030,,,,, 2564,pituitary_apoplexy,pituitary_apoplexy,,D010899,237701005,,D010899,,237701005 2565,chronic_dacryoadenitis,,375.02,,4760008,,,, 2566,chronic_cholangitis,,,,71912000,,,, 2567,cervical_mullerian_papilloma,,,,,,,, 2568,spinal_meningioma,,,D008579,189167009,,,, 2569,gingival_recession,gingival_recession,523.20|523.2,D005889,4356008|59898000|155645006|196360003,K06.0,,, 2570,cervix_squamous_papilloma,,,,,,,, 2571,capillary_lymphangioma,,,,,,,, 2572,pseudogout,pseudogout,,D002805,201636005|60782007|239834007|201625003|201624004|156881000|268142006,,,, 2573,vulvovaginal_candidiasis,vulvovaginal_candidiasis,112.1,D002181|D002577,154404004|266155003|72605008|187009004|156010005|266661001|156014001|63339007|286988004,B37.3,,, 2574,polydactyly,polydactyly,755.00|755.0,D017689,205120004|205119005|367506006|74537000|403562000|205136002|156988007,,,, 2575,pharyngitis,pharyngitis,462,,195664005|164261009|405737000|155521003|75860007|195763009|367427004|363746003|195832000|141458004|195654001|195784004|266383007|37616004|155502006|27321001|266379007,J02|J02.8|J31.2,,, 2576,alternating_exotropia,,378.15,D005099,37214009|194093000,,,, 2577,vulvovaginitis,vulvovaginitis,,D014848,53277000|266655004|198215008|155981006,,,, 2578,hidradenitis_suppurativa,hidradenitis_suppurativa,,D017497,267866004|201204008|156417004|59393003,L73.2,,, 2579,hepatopulmonary_syndrome,hepatopulmonary_syndrome,,D020065,371067004,,,, 2580,palindromic_rheumatism,palindromic_rheumatism,719.3|719.30,C538103,202455001|202466008|50442003|202456000|202457009,M12.3,,, 2581,gastrointestinal_lymphoma,,,,,,,, 2582,liver_lymphoma,,,,,,,, 2583,leptospirosis,leptospirosis,100.9|100,D007922,187311001|186959001|77377001|69092001|186953000|186958009|186954006|398222003|50574007|266213004|154391003|398067003,A27|A27.0|A27.9,D007922,A27,77377001 2584,zellweger_syndrome,zellweger_syndrome,,D015211,88469006,,,, 2585,strictly_posterior_acute_myocardial_infarction,,410.60,,,,,, 2586,diabetes_insipidus,diabetes_insipidus,253.5,D003919,15771004|190484000,E23.2,,, 2587,liver_fibroma,,,,,,,, 2588,gaba_aminotransferase_deficiency,,,,,,C535407,E72.8,237941007 2589,homocarnosinosis,,,,,,C535328,E72.8,274616003|61764000 2590,cortical_thymoma,,,,128713007,,,, 2591,renpenning_syndrome,,,,,,,Q87.5, 2592,familial_hemiplegic_migraine,familial_hemiplegic_migraine,,,,,,G43.1, 2593,succinic_semialdehyde_dehydrogenase_deficiency,succinic_semialdehyde_dehydrogenase_deficiency,,,,,,E72.8, 2594,ciliary_body_mixed_cell_melanoma,,,,,,,, 2595,lung_occult_squamous_cell_carcinoma,,,,,,,, 2596,verbal_auditory_agnosia,auditory_verbal_agnosia,,,,,,, 2597,hepatoid_pattern_ovarian_yolk_sac_tumor,,,,,,,, 2598,topographical_agnosia,,,,,,,, 2599,glandular_pattern_ovarian_yolk_sac_tumor,,,,,,,, 2600,time_agnosia,,,,,,,, 2601,dentatorubral_pallidoluysian_atrophy,dentatorubral-pallidoluysian_atrophy,,D020191,,,,G11,19091006 2602,bartholins_gland_adenomyoma,,,,,,,, 2603,diffuse_alopecia_areata,,,C531609,,,,, 2604,visual_verbal_agnosia,,,,,,,, 2605,polyvesicular_vitelline_pattern_ovarian_yolk_sac_tumor,,,,,,,, 2606,cerebellar_angioblastoma,,,,,,,, 2607,body_dysmorphic_disorder,body_dysmorphic_disorder,,,,,,, 2608,kennedys_disease,,,D055534,,,,, 2609,kleine_levin_syndrome,kleine-levin_syndrome,,,,,D017593,G47.8,111488004 2610,pain_disorder,pain_disorder,,,,R52|R52.9,,, 2611,bipolar_ll_disorder,,,,,,,, 2612,histidinemia,histidinemia,,,,,C538320,E70.8,124628005|410058007 2613,seasonal_affective_disorder,seasonal_affective_disorder,,,,,,, 2614,vaginal_spindle_cell_epithelioma,,,,,,,, 2615,benign_familial_infantile_epilepsy,benign_familial_infantile_epilepsy,,,,R56,,, 2616,brain_stem_angioblastoma,,,,,,,, 2617,generalized_epilepsy_with_febrile_seizures_plus,generalized_epilepsy_with_febrile_seizures_plus,,,,,,, 2618,dravet_syndrome,dravet_syndrome,,,,,,G40.4, 2619,chest_wall_bone_cancer,,,,,,,, 2620,juvenile_absence_epilepsy,juvenile_absence_epilepsy,,,,,,, 2621,timothy_syndrome,timothy_syndrome,,,,,C536962,I45.8, 2622,childhood_optic_tract_astrocytoma,,,,,,,, 2623,ethmoid_sinus_inverted_papilloma,,,,,,,, 2624,neurilemmoma_of_the_pleura,,,,,,,, 2625,posterior_uveal_melanoma,,,,,,,, 2626,uterine_corpus_myxoid_leiomyosarcoma,,,,,,,, 2627,micropapillomatosis_labialis,,,,,,,, 2628,non_invasive_bladder_urothelial_carcinoma,,,,,,,, 2629,childhood_optic_nerve_glioma,,,D020339,,,,, 2630,gastric_small_cell_carcinoma,,,,,,,, 2631,posterior_foramen_magnum_meningioma,,,,,,,, 2632,heart_lymphoma,,,,,,,, 2633,angiomatous_meningioma,,,D008579,73918009,,,, 2634,ethmoid_sinus_schneiderian_papilloma,,,,,,,, 2635,ovarian_clear_cell_malignant_adenofibroma,,,,,,,, 2636,mixed_epithelial_stromal_tumour,mixed_epithelial_stromal_tumour,,,,,,, 2637,iodine_hypothyroidism,,244.2,,190279008,,,, 2638,myxopapillary_ependymoma,,,D004806,1623000,,,, 2639,phencyclidine_abuse,,,D010623,7071007,,,, 2640,basosquamous_carcinoma,,,D002281,254702000|6641007|37304002,,,, 2641,cartilage_cancer,,,,,,,, 2642,ganglioglioma,ganglioglioma,,D018303,89880005,,,, 2643,subependymal_giant_cell_astrocytoma,,,D001254,1586004,,,, 2644,melioidosis,melioidosis,025,D008554,187306003|34458001|428111003,A24.1|A24.2|A24.4,D008554,A24.1|A24.2|A24.3|A24.4,428111003 2645,ehrlich_tumor_carcinoma,,,D002286,,,,, 2646,childhood_cerebellar_neoplasm,,,,,,,, 2647,adult_cerebellar_neoplasm,,,,,,,, 2648,papillary_meningioma_of_the_cerebellum,,,,,,,, 2649,apperceptive_agnosia,apperceptive_agnosia,,,,,,, 2650,neurohypophysis_granular_cell_tumor,,,,,,,, 2651,apraxia,apraxia,,D001072,158322008|250058008|6950007|271724003|192146008|68345001|206991001,R48.2,,, 2652,autotopagnosia,autotopagnosia,,,,,,, 2653,color_agnosia,color_agnosia,,,,,,, 2654,malignant_granular_cell_myoblastoma,,,,404041003|13238004,,,, 2655,vulvar_granular_cell_tumor,,,,,,,, 2656,cardiac_granular_cell_neoplasm,,,,,,,, 2657,cortical_deafness,cortical_deafness,,,,,,, 2658,malignant_granular_cell_esophageal_tumor,,,,,,,, 2659,auditory_agnosia,auditory_agnosia,,,,,,, 2660,anosognosia,anosognosia,,,,,,, 2661,akinetopsia,akinetopsia,,,,,,, 2662,alexithymia,alexithymia,,,,,,, 2663,mediastinal_granular_cell_myoblastoma,,,,,,,, 2664,associative_agnosia,,,,,,,, 2665,astereognosia,astereognosia,,,,,,, 2666,amusia,amusia,,,,,,, 2667,pain_agnosia,,,,,,,, 2668,phonagnosia,phonagnosia,,,,,,, 2669,semantic_agnosia,,,,,,,, 2670,simultanagnosia,simultanagnosia,,,,,,, 2671,social_emotional_agnosia,,,,,,,, 2672,pineal_parenchymal_tumor_of_intermediate_differentiation,,,,397379005|31671006,,,, 2673,tactile_agnosia,,,,,,,, 2674,finger_agnosia,finger_agnosia,,,,,,, 2675,form_agnosia,,,,,,,, 2676,myoblastoma,,,D009379,,,,, 2677,integrative_agnosia,integrative_agnosia,,,,,,, 2678,mirror_agnosia,,,,,,,, 2679,aflatoxins_related_hepatocellular_carcinoma,,,,,,,, 2680,sclerosing_hepatic_carcinoma,,,,128646008,,,, 2681,hepatocellular_clear_cell_carcinoma,,,,,,,, 2682,gamma_heavy_chain_disease,,,,,,,C88.2,109984001 2683,mu_chain_disease,,,,,,,, 2684,delta_chain_disease,,,,,,,, 2685,alpha_chain_disease,,,,,,,, 2686,setariasis,,,D012719,4414005,,,, 2687,primary_open_angle_glaucoma,,365.11,,155122001|77075001,,,, 2688,hepatocellular_fibrolamellar_carcinoma,fibrolamellar_hepatocellular_carcinoma,,C537258,15619004|253018005,,,, 2689,focal_dermal_hypoplasia,focal_dermal_hypoplasia,,D005489,2298005|205573006,,D005489,Q82.8,205573006|2298005 2690,pneumonic_tularemia,,021.2,,186297007|45556008,,,, 2691,atypical_teratoid_rhabdoid_tumor,atypical_teratoid_rhabdoid_tumor,,,128792003,,,, 2692,mansonelliasis,mansonelliasis,,D008368,240849009,B74.4,,B74.4, 2693,dirofilariasis,dirofilariasis,,D004184,73328005,,D004184,B74.8,73328005 2694,eunuchism,,,D005058,267403002|190559001,,,, 2695,edwards_syndrome,edwards_syndrome,758.2,,254265001|157022000|205626006|51500006,Q91.3,,Q91.0|Q91.1|Q91.2|Q91.3, 2696,temporal_lobe_neoplasm,,191.2,,363468009|94086000|126955002|188291000,C71.2,,, 2697,tethered_spinal_cord_syndrome,tethered_spinal_cord_syndrome,741,D016135,67531005|156888006|204017003,,,, 2698,meningocele,meningocele,,D008588,171131006|32941003|156890007|253121009|268308005,,,, 2699,brain_sarcoma,,,,,,,, 2700,paraurethral_gland_neoplasm,,,,126884005,,,, 2701,oculocerebrorenal_syndrome,oculocerebrorenal_syndrome,,D009800,79385002,,,E72.0,79385002 2702,thomsen_disease,thomsen_disease,359.22,D009224,72087003|57938005,,,, 2703,proliferative_fasciitis,,,,254737002|35548007,,,, 2704,cystoisosporiasis,,,D021865,240373006|360427001|73034009|371423007,,,, 2705,juvenile_glaucoma,,,,,,,, 2706,residual_stage_of_open_angle_glaucoma,,365.15,,66990007|193542007,,,, 2707,cystinosis,cystinosis,,C531663|D003554,367374009|190683000|190681003|111398009,,,, 2708,fanconi_syndrome,fanconi_syndrome,,D005198,40488004|190681003|111398009|62332007|367374009|236468006|267415003|253060009|236466005|190683000,,,, 2709,hartnup_disease,hartnup_disease,,D006250,80902009|124208000,,D006250,E72.0,124208000|80902009 2710,krukenberg_carcinoma,,,D007725,4305004|94455000|359987004,,,, 2711,bartholins_gland_transitional_cell_carcinoma,,,,,,,, 2712,attention_deficit_hyperactivity_disorder,attention_deficit_hyperactivity_disorder,,D001289,23148009,,,, 2713,choanal_atresia,choanal_atresia,748.0,D002754,14988006|204508009|204509001|204514002|156934002|53458004,,D002754,Q30.0,204508009 2714,fetal_erythroblastosis,,773|773.2,D004899,206431009|387705004|111468003|206429000|33130007|268878003|206430005|157130001|206436004|276577009|123307003,P55.9,,, 2715,alpha_thalassemia,alpha-thalassemia,,D017085,48553001|68913001|191186002,D56.0,D017085,D56.0,36467003|68913001|48553001 2716,neonatal_candidiasis,,771.7,,157121009|414821002|206362009|3973009,P37.5,,, 2717,urethral_calculus,urethral_calculus,594.2,,155880008|20342001,N21.1,,, 2718,glomangiomyoma,,,,189745002|34550005,,,, 2719,venezuelan_equine_encephalitis,venezuelan_equine_encephalitis,066.2,D004685,417067005|89990001|417702007,,,, 2720,anterior_horn_cell_disease,,335.9|335,D016472,267693003|192892008|85672005|192884004|155014006,,,, 2721,cutaneous_adenocystic_carcinoma,,,,399968001|254711000,,,, 2722,indolent_myeloma,,,,,,,, 2723,sporadic_breast_cancer,,,,,,,, 2724,liver_fibrosarcoma,,,,,,,, 2725,myxoid_liposarcoma_of_the_ovary,,,,,,,, 2726,alveoli_adenoma,,,,8097004,,,, 2727,bronchiectasis,bronchiectasis,494,D001987,155580000|195986009|12295008,,,, 2728,latent_syphilis,,097.1,D013592,444150000|186906003,,,, 2729,amelogenesis_imperfecta,amelogenesis_imperfecta,,D000567,78494001,,D000567,K00.5,78494001 2730,breast_apocrine_carcinoma,,,,,,,, 2731,frontal_convexity_meningioma,,,,,,,, 2732,oncocytic_breast_carcinoma,,,,,,,, 2733,skin_meningioma,,,,,,,, 2734,tuberculous_pneumothorax,,011.70|011.7,,29731002,,,, 2735,penis_mixed_squamous_cell_carcinoma,,,,,,,, 2736,lassa_fever,lassa_fever,,D007835,19065005,A96.2,D007835,A96.2,19065005 2737,post_surgical_hypoinsulinemia,,251.3,,190437000|78483000,,,, 2738,penis_papillary_carcinoma,,,,,,,, 2739,osteosclerotic_myeloma,,,,425657001|42215000,,,, 2740,benign_pericardial_teratoma,,,,,,,, 2741,bladder_colonic_type_adenocarcinoma,,,,,,,, 2742,gastric_tubular_adenocarcinoma,,,,,,,, 2743,refractory_plasma_cell_neoplasm,,,,,,,, 2744,non_secretory_myeloma,,,,277580004,,,, 2745,frontal_sinus_inverted_papilloma,,,,,,,, 2746,sarcomatous_intrahepatic_cholangiocarcinoma,,,,,,,, 2747,plasmacytic_leukemia,,203.1,D007952,128922003|190038002|190039005|269630009|95210003|188722001|154586003|39193004,,,, 2748,simple_chronic_conjunctivitis,,372.11,,8211008|193866007,,,, 2749,intraductal_breast_myoepitheliosis,,,,,,,, 2750,natural_killer_cell_leukemia,,,,128833001,,,C91.7,128833001 2751,laron_syndrome,laron_syndrome,,D046150,38196001,,D046150,E34.3,38196001 2752,carbuncle,carbuncle,680.9,,,,,, 2753,childhood_central_nervous_system_germinoma,,,,,,,, 2754,eyelid_neoplasm,eyelid_neoplasms,,D005142,278697001,,,, 2755,ovarian_malignant_mesothelioma,,,,,,,, 2756,testis_polyembryoma,,,,,,,, 2757,urethra_leiomyoma,,,,,,,, 2758,malignant_ovarian_cyst,,,,,,,, 2759,tuberculous_oophoritis,,016.6,,186242002|186243007,,,, 2760,chest_wall_parachordoma,,,,,,,, 2761,bladder_tubulo_cystic_clear_cell_adenocarcinoma,,,,,,,, 2762,pinta_disease,,103|103.9,D010874,187373005|4669001|186975003|68131004|240685007|186976002|73594001|68202005|22064009|7251008,A67|A67.9,,, 2763,olfactory_groove_meningioma,,,D008579,,,,, 2764,ovarian_wilms_cancer,,,,,C56,,, 2765,bladder_papillary_clear_cell_adenocarcinoma,,,,,,,, 2766,pituitary_stalk_meningioma,,,,,,,, 2767,tuberculoid_leprosy,tuberculoid_leprosy,030.1,D015441,70143003,A30.1,,, 2768,acute_ethmoiditis,,461.2,,155501004|67832005|266378004,J01.2,,, 2769,borderline_leprosy,borderline_leprosy,030.3,D015439,400154003|50521002|400008009,A30.3,,, 2770,benign_mammary_dysplasia,benign_mammary_dysplasia,610.8,,,N60,,, 2771,chronic_eosinophilic_pneumonia,,,,233692000,,,, 2772,cannabis_abuse,cannabis_abuse,305.2,D002189,268769003|37344009,,,, 2773,loeffler_syndrome,,,D011657,123261002|64936001,,,, 2774,metabolic_syndrome_x,,277.7,D024821,237602007|190394009,,,, 2775,acute_frontal_sinusitis,,461.1,,91038008|155500003,J01.1,,, 2776,ochronosis,ochronosis,,D009794,21924005|410042009,,,, 2777,tracheal_calcification,,,,81089005,,,, 2778,ovarian_lymphoma,,,,,,,, 2779,orbital_cyst,,376.81,,31021007|194033002,,,, 2780,thrombotic_thrombocytopenic_purpura,,,D011697,78129009|195359000|195358008|155443009|360402008,M31.1,,, 2781,renal_tubular_acidosis,renal_tubular_acidosis,,D000141,1776003,,,, 2782,dihydropyrimidine_dehydrogenase_deficiency,dihydropyrimidine_dehydrogenase_deficiency,,D054067,238016000|77365006,,D054067,E79.8,77365006 2783,petrositis,,383.2|383.20,,51211002|267760001|28593007|34997001|155233009|194300003|194301004,H70.2,,, 2784,oligospermia,oligospermia,606.1,D009845,,,,, 2785,azoospermia,azoospermia,606.0,D053713,145008007|198010009|167781002|48188009|425558002|155925000,,,, 2786,portal_hypertension,portal_hypertension,572.3,D006975,155821005|34742003,K76.6,,, 2787,scleromalacia_perforans,,379.04,,26664005,,,, 2788,mixed_astrocytoma_ependymoma,,,,,,,, 2789,septic_myocarditis,,422.92,,64043005|194959002,,,, 2790,fiedlers_myocarditis,,422.91,,266238009|194954007|194955008|91025000,I40.1,,, 2791,childhood_type_dermatomyositis,,,D003882,1212005|201446001,M33.0,,M33.2|M33.0,1212005 2792,adult_dermatomyositis,,,,,,,, 2793,mesenteric_lymphadenitis,mesenteric_lymphadenitis,289.2,D008640,154837005|44897000|191376006|191378007|267548000,,,, 2794,methemoglobinemia,methemoglobinemia,289.7,D008708,191393006|38959009|267549008|191386007,D74|D74.9,,, 2795,primary_polycythemia,primary_polycythemia,289.6,,154840005|17342003|267571003,D75.0,,D75.1|D75.0, 2796,chronic_maxillary_sinusitis,,473.0,D015523,195785003|35923002|8299006|155526008|275484005|88348008,J32.0,,, 2797,chronic_sphenoidal_sinusitis,,473.3,,38961000|155528009|266384001,J32|J32.3,,, 2798,intracranial_chondrosarcoma,,,,,,,, 2799,adult_extraosseous_chondrosarcoma,,,,,,,, 2800,hypophosphatasia,hypophosphatasia,,D007014,30174008|360792001|190859005|70848009|124431003,,,E83.3,30174008 2801,chronic_frontal_sinusitis,,473.1,,155527004|195786002|60130002,J32.1,,, 2802,premature_menopause,premature_menopause,256.31,D008594,74296006|373717006|237789005|267486007|190544007|154713003,,,, 2803,oral_candidiasis,oral_candidiasis,112.0,D002180,367093001|78048006|79740000|187006006|187005005,,,, 2804,fragile_x_syndrome,fragile_x_syndrome,759.83,C531683|D005600,613003|390007001,,D005600,Q99.2,254287005|613003 2805,queensland_tick_typhus,queensland_tick_typhus,,,,,,, 2806,maxillary_sinus_schneiderian_papilloma,,,,,,,, 2807,benign_neonatal_seizures,,,D020936,38281008|276724002,P90,,, 2808,suppurative_cholangitis,,,,197437002|69850007,,,, 2809,bladder_mixed_adenocarcinoma,,,,,,,, 2810,sclerosing_cholangitis,sclerosing_cholangitis,,D015209,235917005|197443000|4032000,,,, 2811,bladder_hepatoid_adenocarcinoma,,,,,,,, 2812,malignant_type_a_thymoma,,,,128708008,,,, 2813,pulmonary_valve_insufficiency,pulmonary_valve_insufficiency,518.5,,,I37.1,,, 2814,epithelial_malignant_thymoma,,,,128716004|128715000,,,, 2815,testis_refractory_cancer,,,,,C62,,, 2816,spinal_cord_neuroblastoma,,,,,,,, 2817,benign_mediastinal_psammomatous_neurilemmoma,,,,,,,, 2818,pericholangitis,,,,111373008,,,, 2819,myxomatous_pattern_testicular_yolk_sac_tumor,,,,,,,, 2820,acute_cholangitis,acute_cholangitis,,,6215006,,,, 2821,ascending_cholangitis,ascending_cholangitis,,,26918003,,,, 2822,cellular_congenital_mesoblastic_nephroma,,,,,,,, 2823,classic_congenital_mesoblastic_nephroma,,,,,,,, 2824,shoulder_impingement_syndrome,,,D019534,202849001|128498000|366831005|202851002|239960007,M75.1|M75.4,,, 2825,parasagittal_meningioma,,,D008579,,,,, 2826,cervical_spinal_canal_and_spinal_cord_meningioma,,,,,,,, 2827,atrophic_vulva,,624.1,,248861000|82614005|198382004,N90.5,,, 2828,mixed_oligodendroglioma_astrocytoma,,,D009837,22217002,,,, 2829,mediastinal_gray_zone_lymphoma,,,,,,,, 2830,maxillary_sinus_squamous_cell_carcinoma,,,,,,,, 2831,chronic_atticoantral_disease,,382.2,,41954005,H66.2,,, 2832,chronic_perichondritis_of_pinna,,380.02,,194195009|45431004,,,, 2833,oxyphilic_endometrial_endometrioid_adenocarcinoma,,,,,,,, 2834,cystoid_macular_retinal_degeneration,,362.53,,14046000,,,, 2835,epiphora_due_to_excess_lacrimation,,375.21,,31788005|193984005,,,, 2836,adult_central_nervous_system_mixed_germ_cell_tumor,,,,,,,, 2837,stroma_dominant_and_stroma_poor_composite_ganglioneuroblastoma,,,,,,,, 2838,gastrointestinal_tularemia,,021.8,,111834003|186298002|398599000|186292001|62769007|186299005|186296003,,,, 2839,malignant_ovarian_mixed_epithelial_neoplasm,,,,,,,, 2840,ovary_mixed_epithelial_carcinoma,,,,,,,, 2841,barretts_adenocarcinoma,,,,,,,, 2842,down_syndrome,down_syndrome,758.0,D004314,157019002|205618003|41040004|254263008|205614001,Q90|Q90.9|Q92.9,,, 2843,small_bowel_fibrosarcoma,,,,,,,, 2844,retinal_dystrophy_in_systemic_or_cerebroretinal_lipidoses,,362.71,,,,,, 2845,dystrophies_primarily_involving_the_retinal_pigment_epithelium,,362.76,,,,,, 2846,vitreoretinal_dystrophy,,362.73,,79556007,,,, 2847,adult_onset_stills_disease,,,D016706,239920006|201815006|201449008,M06.1|M83.9,D014924|D016706,M06.1,239920006|68190001 2848,precursor_t_lymphoblastic_lymphoma_leukemia_refractory,,,,,,,, 2849,rheumatic_aortic_valve_insufficiency,,395.1,,78031003|155283004,I06.1,,, 2850,aortic_incompetence,aortic_incompetence,396.3,,194736003|59464004,,,, 2851,ureter_small_cell_carcinoma,,,,,,,, 2852,rheumatic_mitral_valve_incompetence,,394.1,,31085000|155278007|266279005|155279004,I05.1,,, 2853,glandular_alveolar_pattern_testicular_yolk_sac_tumor,,,,,,,, 2854,childhood_precursor_t_lymphoblastic_lymphoma_leukemia,,,,,,,, 2855,malignant_spiradenoma,,,,128895006|403942003,H81.0,,, 2856,tamoxifen_related_endometrial_lesion,,,,,,,, 2857,cervical_non_keratinizing_squamous_cell_carcinoma,,,,,,,, 2858,plasmacytoid_variant_infiltrating_bladder_urothelial_carcinoma,,,,,,,, 2859,rete_ovarii_cystadenofibroma,,,,,,,, 2860,lipid_cell_variant_infiltrating_bladder_urothelial_carcinoma,,,,,,,, 2861,nested_variant_infiltrating_bladder_urothelial_carcinoma,,,,,,,, 2862,pemphigus,pemphigus,694.4,D010392,200908008|65172003|156355008,L10|L10.9,,, 2863,vestibule_of_mouth_cancer,,145.1,,94138009|187664006|187658004,C06.1,,, 2864,amebiasis,amebiasis,006|006.9,D000562,187278004|105637008|186122001|111910009|154274000|388759003|282008000|387754006|111909004,,C531613,A06, 2865,schwannian_stroma_rich_and_stroma_poor_composite_ganglioneuroblastoma,,,,,,,, 2866,duodenal_gastrinoma,,,,,,,, 2867,nipple_duct_carcinoma,,,,,,,, 2868,pancreatoblastoma,pancreatoblastoma,,C537162,53618008|189814006,,C537162,C25.1,53618008 2869,sarcomatoid_penile_squamous_cell_carcinoma,,,,,,,, 2870,pancreatic_solid_pseudopapillary_carcinoma,,,,,,,, 2871,submandibular_gland_cancer,,142.1,,94077005|363380002,C08.0,,, 2872,rectum_carcinoma_in_situ,,230.4,,92696009|308879003,D01.2,,, 2873,cerebral_falx_meningioma,,,,,,,, 2874,ethmoid_sinus_ectopic_meningioma,,,,,,,, 2875,pineal_region_mature_teratoma,,,,,,,, 2876,pineal_region_immature_teratoma,,,,,,,, 2877,sclerosing_breast_papilloma,,,,,,,, 2878,breast_malignant_eccrine_spiradenoma,,,,,,,, 2879,microcystic_variant_infiltrating_bladder_urothelial_carcinoma,,,,,,,, 2880,flat_ductal_epithelial_atypia,,,,,,,, 2881,kidney_pelvis_sarcomatoid_transitional_cell_carcinoma,,,,,,,, 2882,infiltrating_ureter_transitional_cell_carcinoma,,,,,,,, 2883,familial_melanoma,familial_melanoma_syndrome,,,,,,, 2884,adult_botryoid_rhabdomyosarcoma,,,,,,,, 2885,lymphoma_like_variant_infiltrating_bladder_urothelial_carcinoma,,,,,,,, 2886,adult_vagina_botryoid_rhabdomyosarcoma,,,,,,,, 2887,diabetic_macular_edema,diabetic_macular_edema,362.07,,312912001,,,, 2888,dyskinesia_of_esophagus,,530.5,D015154,61100004|40846004|196614005|266434009|79962008,K22.4,,, 2889,giardiasis,giardiasis,007.1,D005873,186124000|154275004|266176008|58265007|10679007|266075009,A07.1,,, 2890,orchitis,orchitis,,D009920,197984006|367112009|29077001|274718005|197987004|297229006|197990005,,,, 2891,intracranial_cavernous_angioma,,,,,,,, 2892,toxic_diffuse_goiter,,242.00,,,,,, 2893,central_nervous_system_osteosarcoma,,,,,,,, 2894,familial_glomangioma,,,,,,,, 2895,kluver_bucy_syndrome,kluver-bucy_syndrome,,D020232,10651001,,D020232,, 2896,nevoid_basal_cell_carcinoma_syndrome,nevoid_basal_cell_carcinoma_syndrome,,C538649|D001478,69408002|188145001|254704004,,,Q87.8,69408002 2897,takayasus_arteritis,,,D001015,155445002|42153001|195361009|359789008|266323005|239937004,M31.4,D013625,M31.4|Q25.4,239937004|359789008 2898,juvenile_pilocytic_astrocytoma,,,D001254,,,,, 2899,landau_kleffner_syndrome,landau-kleffner_syndrome,,D018887,230438007|192567003,F80.3,D018887,,230438007 2900,chronic_inflammatory_demyelinating_polyneuritis,,357.81,,,,,, 2901,vaginal_tubular_adenoma,,,,,,,, 2902,broad_ligament_malignant_neoplasm,,183.3,,93728003|188202001,C57.1,,, 2903,splenic_infarction,splenic_infarction,,D013159,154839008|267570002|22996003,,,, 2904,splenic_abscess,,,,82053000,,,, 2905,cerebral_lipidosis,,330.1,,192789001|192786008|16517004,,,, 2906,colon_kaposi_sarcoma,,,,,,,, 2907,pityriasis_rubra_pilaris,pityriasis_rubra_pilaris,696.4,D010916,3755001,L44.0,D010916,L44.0,3755001 2908,geniculate_herpes_zoster,geniculate_herpes_zoster,053.11,D016697,21954000|186529001|154330004|186518000,,,, 2909,gangliocytoma,gangliocytoma,,D005729,189929007|128919000|53801007,,,, 2910,cutaneous_ganglioneuroma,,,,254766004,,,, 2911,skin_glomus_tumor,,,,254795008,,,, 2912,epidermal_appendage_tumor,,,,126489007|55681005,,,, 2913,central_sleep_apnea,central_sleep_apnea,327.21,D020182,,,,, 2914,fetal_adenoma,,,,30301008,,,, 2915,frontal_sinus_squamous_cell_carcinoma,,,,,,,, 2916,kidney_carcinoma_in_situ,,233.9,,190185006,D09.1,,, 2917,pyriform_sinus_cancer,,148.1,,93978008|363401000,,,, 2918,dyshidrosis,dyshidrosis,705.81,D011146,267865000|201198005|267866004|274946003|201199002|402567004|156417004|156416008|201200004|201202007|25560004,L30.1,,, 2919,cellular_phase_chronic_idiopathic_myelofibrosis,,,,,,,, 2920,vaginal_tubulovillous_adenoma,,,,,,,, 2921,acromegaly,acromegaly,,D000172,154698000|74107003|267480001,,D000172|D005877,E22.0,74107003|80849007 2922,fibroepithelial_polyp_of_urethra,,,,,,,, 2923,extrahepatic_bile_duct_cystadenoma,,,,,,,, 2924,angular_blepharoconjunctivitis,,372.21,,193871000|69397000,,,, 2925,nephrogenic_adenoma_of_the_urethra,,,,,,,, 2926,erythromelalgia,erythromelalgia,443.82,D004916,238777005|37151006,,D004916,I73.8,37151006 2927,alagille_syndrome,alagille_syndrome,,D016738,31742004,,D016738,Q44.7,31742004 2928,central_retinal_vein_occlusion,central_retinal_vein_occlusion,362.35,,68478007|193378003,,,, 2929,cerebral_amyloid_angiopathy,cerebral_amyloid_angiopathy,,D028243,56453003,I68.0,,E85.4+|I68.0*, 2930,periampullary_adenocarcinoma,,,,,,,, 2931,protein_s_deficiency,protein_s_deficiency,,D018455,1563006,,,, 2932,pallister_hall_syndrome,,,C531765|D054975,56677004,,D054975,D33.0,56677004 2933,neuronitis,,,,,,,, 2934,giant_papillary_conjunctivitis,giant_papillary_conjunctivitis,,D003233,231857004,,,, 2935,mature_gastric_teratoma,,,,,,,, 2936,anal_canal_pagets_disease,,,,,,,, 2937,beemer_langer_syndrome,,,C537599,254052001,,,Q77.2, 2938,mast_cell_leukemia,,,D007946,110002002|128924002|188755006|70798001,C94.3,,, 2939,anterior_dislocation_of_lens,,379.33,,37283009|194160006,,,, 2940,frontotemporal_dementia,frontotemporal_dementia,,,42369001,,,, 2941,mikulicz_disease,mikulicz_disease,,D008882,196478007|7826003,,D008882,K11.8,7826003 2942,necrotizing_sialometaplasia,necrotizing_sialometaplasia,,D012797,109769000,,,, 2943,acrocallosal_syndrome,acrocallosal_syndrome,,D055673,,,,Q04.0, 2944,ischemic_optic_neuropathy,ischemic_optic_neuropathy,377.41,D018917,14357004,,,, 2945,gastrointestinal_stromal_tumor,gastrointestinal_stromal_tumor,,D046152,128755003|420120006,,D046152,C26.9,128756002|420120006 2946,trachea_squamous_cell_carcinoma,,,,254620000,,,, 2947,vernal_conjunctivitis,vernal_conjunctivitis,372.13,D003233,318316003|20212001|193774003|193867003,,,, 2948,central_nervous_system_origin_vertigo,,386.2,D014717,38403006|194362009|20425006,H81.4,,, 2949,mucocele_of_salivary_gland,mucocele_of_salivary_gland,527.6,,196508008|196512002|69825009|196509000,K11.6,,, 2950,sialolithiasis,sialolithiasis,527.5,D015494,196507003|155656006|109767003|28826002,K11.5,,, 2951,waardenburgs_syndrome,waardenburg_syndrome,,D014849,47434006,,D014849,E70.3,47434006 2952,tracheal_lymphoma,,,,,,,, 2953,cystinuria,cystinuria,,D003555,267498002|85020001|154738008,,D003555,E72.0,25646005|85020001 2954,trachea_sarcoma,,,,,,,, 2955,nasopharynx_carcinoma,nasopharyngeal_carcinoma,147|147.9,,240163000|187699005|363398003|187696003|187692001|363397008|93674007|94078000|93970001|187707009|93861003|93919005|187700006|187704002|187693006,C11|C11.0|C11.1|C11.2|C11.3,,C11, 2956,glycine_encephalopathy,glycine_encephalopathy,,C536838|D020158,237939006,,,E72.5, 2957,motor_peripheral_neuropathy,,,D015417,398100001|193158000|155081008|193160003|50548001|193161004|128202008,,,, 2958,homocystinuria,homocystinuria,,D006712,11282001|190709008,,,, 2959,hereditary_spastic_paraplegia,hereditary_spastic_paraplegia,334.1,D015419|C535398,267692008|39912006|76043009|155013000,G11.4,,G11.4, 2960,hyperlysinemia,hyperlysinemia,,D020167,58558003,,D020167,E72.3,58558003 2961,ornithine_carbamoyltransferase_deficiency,ornithine_carbamoyltransferase_deficiency,,D020163,124249000|80908008,,D020163,E72.2,80908008 2962,maple_syrup_urine_disease,maple_syrup_urine_disease,,D008375,27718001,E71.0,,, 2963,hyperargininemia,hyperargininemia,,D020162,23501004|124518006,,D020162,E72.2,23501004 2964,citrullinemia,citrullinemia,,D020159,398630005|124711003|15489004|398680004,,D020159,E72.2,398630005|398680004 2965,primary_cerebellar_degeneration,,334.2,D013132,192868000|192872001|23732000,,,, 2966,hyperhomocysteinemia,hyperhomocysteinemia,,D020138,419503008,,,, 2967,infantile_epileptic_encephalopathy,infantile_epileptic_encephalopathy,345.6,D013036,28055006|193014002|288197007|155042008|193015001|193016000,,,, 2968,screw_worm_infectious_disease,,,D012610,,,,, 2969,carbamoyl_phosphate_synthetase_i_deficiency_disease,carbamoyl_phosphate_synthetase_i_deficiency,,D020165,62522004,,,E72.2, 2970,endocardial_fibroelastosis,endocardial_fibroelastosis,425.3,D004695,65457005,I42.4,,, 2971,hypodermyiasis,hypodermyiasis,,D007000,,,D007000,B87.0,240879002 2972,ocular_hypertension,ocular_hypertension,365.04,D009798,267721003|155121008|193536008|4210003,,,, 2973,phenylketonuria,phenylketonuria,270.1,D017042|D010661,154735006|190687004|297225000,E70.0,D010661,E70.0|E70.1|P00.8, 2974,priapism,priapism,607.3,D011317,6273006|155930001|4287008|198027001,N48.3,,, 2975,enamel_erosion,,521.31,,,,,, 2976,sensory_peripheral_neuropathy,,,,95662005|193163001|11442006,,,, 2977,gastric_antral_vascular_ectasia,gastric_antral_vascular_ectasia,,D020252,43935004|412795008,,,, 2978,angiodysplasia,angiodysplasia,,D016888,71072006,,,, 2979,senile_angioma,senile_angioma,,,11790000|5050001,,,, 2980,posterior_dislocation_of_lens,,379.34,,14169000|194161005,,,, 2981,gallbladder_melanoma,,,,,,,, 2982,thromboangiitis_obliterans,thromboangiitis_obliterans,443.1,D013919,155432001|195298008|195299000|195300008|52403007,I73.1,,I73.1, 2983,plasmodium_ovale_malaria,,084.3,,19341001,B53.0,,, 2984,cryptococcosis,cryptococcosis,117.5,D003453,187494009|20850004|187097008|42386007|187090005,B45|B45.9,D003453,B45,42386007 2985,sarcoid_meningitis,,321.4,,192673008,,,, 2986,thyroid_hurthle_cell_adenoma,,,,,,,, 2987,thyroid_hurthle_cell_carcinoma,,,C536913,423158009,,,, 2988,bicipital_tenosynovitis,bicipital_tenosynovitis,726.12,,202840002|41137001,,,, 2989,cervical_atypical_polypoid_adenomyoma,,,,,,,, 2990,endometrial_type_cervical_adenomyoma,,,,,,,, 2991,endocervical_type_cervical_adenomyoma,,,,,,,, 2992,frozen_shoulder,frozen_shoulder,726.0,D002062,156664007|399114005|8753005|202847004|156658000|202837002|268087008,M75.0,,, 2993,alcoholic_cardiomyopathy,alcoholic_cardiomyopathy,425.5,D002310,83521008|155352001,I42.6,,, 2994,kearns_sayre_syndrome,,,C537016|D007625,25792000|51464001|77835008,,D007625,H49.8,25792000|51464001|77835008 2995,endomyocardial_fibrosis,endomyocardial_fibrosis,425.0,D004719,111507009|155351008|398716006|266301006|30293000|123264005,,,, 2996,calcific_tendinitis,calcific_tendinitis,726.11,,27741009|239957000,M65.2,,, 2997,kernicterus_due_to_isoimmunization,,773.4,,268880009|206433007|359007|157135006,,,, 2998,alcoholic_neuropathy,alcoholic_neuropathy,357.5,D020269,155083006|123050003|7916009,G62.1,,, 2999,polyneuropathy_due_to_drug,,357.6,,7339009,,,, 3000,fibroepithelial_polyp_of_the_anus,,,,,,,, 3001,sympathetic_ophthalmia,sympathetic_ophthalmia,360.11,D009879,75315001,,D009879,H44.1,75315001 3002,conns_syndrome,,255.12,D006929,190506003|258117004|154709005|267484005|190507007|13536004,,,, 3003,central_nervous_system_leukemia,,,,,,,, 3004,subleukemic_leukemia,,,,,,,, 3005,hereditary_spherocytosis,hereditary_spherocytosis,282.0,D013103,55995005|154795009,D58.0,,D76.3, 3006,intrapelvic_lymph_node_leukemic_reticuloendotheliosis,,202.46,,93145002|188650008,,,, 3007,congenital_hypogammaglobulinemia,,279.04,,190983003|267460002,,,, 3008,rheumatic_aortic_valve_stenosis,,395.0,,72011007|155282009,I06.0|I06.2,,, 3009,gestational_uterine_corpus_choriocarcinoma,,,,,,,, 3010,von_hippel_lindau_disease,,,D006623,46659004,,D006623,Q85.8,46659004 3011,selective_igg_deficiency_disease,,,D017099,190981001|123785006,D80.3,,, 3012,fallopian_tube_gestational_choriocarcinoma,,,,,,,, 3013,bruton_type_agammaglobulinemia,bruton_type_agammaglobulinemia,,C537409,65880007|190983003,,,, 3014,frontal_lobe_neoplasm,,191.1,,363467004|126954003|93807001,C71.1,,, 3015,central_neurocytoma,central_neurocytoma,,D018306,302832007|128858006,,,,128858006 3016,rheumatic_congestive_heart_failure,rheumatic_heart_disease,398.91,,82523003,I09.8,,, 3017,poland_syndrome,poland_syndrome,,D011045,205524002|38371006,,D011045,Q79.8,38371006 3018,hepatoid_pattern_testicular_yolk_sac_tumor,,,,,,,, 3019,paralytic_lagophthalmos,,374.21,,193938000|59890007,,,, 3020,vagus_nerve_neoplasm,,,,126976007,,,, 3021,leukostasis,leukostasis,,D018921,30419000,,,, 3022,papillary_pattern_testicular_yolk_sac_tumor,,,,,,,, 3023,symptomatic_torsion_dystonia,,,,192853001|267584007|55776008|192858005,,,, 3024,bilateral_hyperactive_labyrinth,,386.52,,5311007|194373002,,,, 3025,pseudovascular_skin_squamous_cell_carcinoma,,,,,,,, 3026,trigeminal_neuralgia,trigeminal_neuralgia,350.1,D014277,155066002|31681005|322769008|193090007,G50.0,D014277,G50.0,31681005 3027,plasmodium_vivax_malaria,,084.1,D016780,27052006,B51|B51.0|B51.8|B51.9,,, 3028,sodoku_disease,,026.0,D011906,19044004,,,, 3029,transient_arthropathy,,716.41,,,,,, 3030,thymus_sarcomatoid_carcinoma,,,,,,,, 3031,thymus_clear_cell_carcinoma,,,,,,,, 3032,breast_columnar_cell_mucinous_carcinoma,,,,,,,, 3033,deep_corneal_vascularisation,,370.63,,2102007,,,, 3034,gallbladder_lymphoma,,,,,,,, 3035,epiglottis_cancer,,146.4,,93784003|93670003|187684005|187681002|308120004|187849008,C10.1,,, 3036,dieulafoy_lesion,,537.84,,,,,, 3037,pylorospasm,,537.81,,335002,K31.3,,, 3038,malignant_childhood_germ_cell_neoplasm,,,,,,,, 3039,adrenal_gland_ganglioneuroblastoma,,,,,,,, 3040,acute_dacryocystitis,,375.32,,193986007|25470000,,,, 3041,barretts_esophagus,barretts_esophagus,530.85,D001471,155679007|196603007|302914006|196609006|235597001|76355008,K22.7,,, 3042,complement_component_5_deficiency,complement_component_5,,,,,,D84.1, 3043,pregerminal_center_chronic_lymphocytic_leukemia_small_lymphocytic_lymphoma,,,,,,,, 3044,mediastinum_neurofibroma,,,,,,,, 3045,appendiceal_l_cell_glucagon_like_peptide_producing_tumor,,,,,,,, 3046,periodic_limb_movement_disorder,periodic_limb_movement_disorder,327.51,D020189,418763003,,,, 3047,phlegmonous_dacryocystitis,,375.33,,193988008|64324003,,,, 3048,conduct_disorder,conduct_disorder,312.9,D019955,268782006|430909002|192104004|192597006|154945001|268785008|192106002|192603009,F91|F91.9,,, 3049,lichen_planus,lichen_planus,697.0,D008010,4776004|201004002|156377007,L43,,, 3050,fibroosseous_pseudotumor_of_digits,,,,,,,, 3051,pancreatic_invasive_intraductal_papillary_mucinous_carcinoma,,,,,,,, 3052,iliac_vein_thrombophlebitis,,451.81,,195429006,,,, 3053,epidemic_pleurodynia,,074.1,D011000,83264000|154356006,B33.0,,, 3054,hand_foot_and_mouth_disease,hand_foot_and_mouth_disease,074.3,D006232,175497008|154357002|266108008|186664000|67171006,,,, 3055,multiple_symmetric_lipomatosis,,,D008069,63746001|254832003|190800002|63365006,,,, 3056,kuhnt_junius_degeneration,,362.52,,414173003|11290001|16018000,,,, 3057,median_rhomboid_glossitis,median_rhomboid_glossitis,529.2,,7522008,K14.2,,, 3058,hypospadias,hypospadias,,D007021,,Q54|Q54.9,,, 3059,toxic_shock_syndrome,toxic_shock_syndrome,040.82,D012772,240450004|18504008,A48.3,,, 3060,herpangina,herpangina,074.0,D006557,37428001|154358007|274102007|186659004|266197009,,,, 3061,childhood_botryoid_rhabdomyosarcoma,,,,,,,, 3062,de_quervain_disease,,727.04,D053684,202905002|21794005|123249005|190296009|154666006|268094006|156670001,M65.4,,, 3063,lepromatous_leprosy,lepromatous_leprosy,030.0,D015440,21560005,A30.5,,, 3064,vulvar_childhood_botryoid_type_embryonal_rhabdomyosarcoma,,,,,,,, 3065,breast_myoepithelial_carcinoma,,,,,,,, 3066,abducens_nerve_neoplasm,,,,126972009,,,, 3067,blue_toe_syndrome,blue_toe_syndrome,,D018438,,,,, 3068,childhood_vagina_botryoid_rhabdomyosarcoma,,,,,,,, 3069,familial_lipoprotein_lipase_deficiency,,272.3,D008072|C536843,267435002|238086005|275598004|190781009|34171006|238039006|403827000,,,, 3070,polyembryoma_of_the_ovary,,,,,,,, 3071,sphenocavernous_meningioma,,,,,,,, 3072,villoglandular_endometrial_endometrioid_adenocarcinoma,,,,,,,, 3073,spinal_multifocal_clear_cell_meningioma,,,,,,,, 3074,masters_allen_syndrome,,620.6,,69186005,,,, 3075,chronic_toxic_polyneuropathy,,,,,,,, 3076,adult_papillary_meningioma,,,,,,,, 3077,adult_extraosseous_osteosarcoma,,,,,,,, 3078,lateral_cystocele,,618.02,,,,,, 3079,lung_lymphoma,,,,,,,, 3080,midline_cystocele,,618.01,,423633003,,,, 3081,petroclival_meningioma,,,,,,,, 3082,sphenoorbital_meningioma,,,,,,,, 3083,sternum_lymphoma,,,,,,,, 3084,mixed_astrocytoma_ependymoma_oligodendroglioma,,,,,,,, 3085,pulp_erosion,,521.33,,,,,, 3086,malignant_anus_melanoma,,,,276821000,,,, 3087,ureterolithiasis,ureterolithiasis,592.1,D053039,95573009|31054009,N20.1,,, 3088,amyloid_tumor,,,,37279009,,,, 3089,internal_auditory_canal_lipoma,,,,,,,, 3090,anus_lymphoma,,,,,,,, 3091,bone_lymphoma,,,,,,,, 3092,adult_spinal_cord_glioblastoma_multiforme,,,,276829003,,,, 3093,chest_wall_lymphoma,,,,93754006|188363005,,,, 3094,nasal_cavity_lymphoma,,,,,,,, 3095,nasal_cavity_olfactory_neuroblastoma,,,,,,,, 3096,cervix_small_cell_carcinoma,,,,,,,, 3097,synchronous_bilateral_breast_carcinoma,,,,,,,, 3098,spinal_cord_lymphoma,,,,,,,, 3099,spinal_cord_sarcoma,,,,,,,, 3100,spinal_cord_melanoma,,,,,,,, 3101,acute_retrobulbar_neuritis,,377.32,,51604006,H48.1,,, 3102,obstructive_hydrocephalus,,331.4,D006849,230746009,G91.1,,, 3103,choroid_necrotic_melanoma,,,,,,,, 3104,tibialis_tendinitis,,726.72,,50127006,,,, 3105,sexual_sadism,sexual_sadism,302.84,D012448,59394009,,,, 3106,duodenum_adenocarcinoma,,,,408644002,,,, 3107,maxillary_sinus_inverted_papilloma,,,,,,,, 3108,adult_central_nervous_system_germinoma,,,,,,,, 3109,intrahepatic_bile_duct_cystadenoma,,,,,,,, 3110,schwannoma_of_jugular_foramen,,,,,,,, 3111,spinal_stenosis,spinal_stenosis,724.00,D013130,202780000|83561009|156640006|202791007|202781001|76107001|156646000|268082002|18347007,M48.0,,, 3112,fibrillary_astrocytoma,fibrillary_astrocytoma,,D001254,71314006|253063006,,,, 3113,malignant_essential_hypertension,,401.0,,78975002|1218009,,,, 3114,malignant_type_ab_thymoma,,,,128710005,,,, 3115,littre_gland_carcinoma,,,,,,,, 3116,colon_small_cell_carcinoma,,,,,,,, 3117,pancreatic_intraductal_papillary_mucinous_adenoma,,,,,,,, 3118,interdigitating_dendritic_cell_sarcoma,interdigitating_dendritic_cell_sarcoma,,D054739,128815007,,D054739,C85.0,128815007|373168002 3119,anterior_spinal_artery_syndrome,anterior_spinal_artery_syndrome,,D020759,2972007,,,, 3120,female_breast_carcinoma,,,,,,,, 3121,pediatric_cerebral_ependymoblastoma,,,,,,,, 3122,pancreatic_non_functioning_delta_cell_tumor,,,,,,,, 3123,infiltrating_nipple_syringomatous_adenoma,,,,,,,, 3124,gastric_pylorus_carcinoma,,,,,,,, 3125,malignant_triton_tumor,malignant_triton_tumor,,,189951004|404040002|354002,,,, 3126,gastric_body_carcinoma,,,,254557000,,,, 3127,tubular_variant_testicular_seminoma,,,,,,,, 3128,gastric_fundus_carcinoma,,151.3,,254555008|269528004|187741001|154449001|93809003,C16.1,,, 3129,acute_gonococcal_epididymo_orchitis,,098.13,,186912008|30168008,,,, 3130,myocardium_cancer,,,,363437005|93914000|126732009,,,, 3131,cleft_lip,cleft_lip,749.1|749.10,D002971,156941008|204606000|80281008|204609007|62696001,,,, 3132,gastric_ulcer,gastric_ulcer,531,D013276,196642007|266436006|6034002|196649003|155690002|196627009|155681009|397825006|196650003,K25|H72.9|K25.0|K25.1|K25.2|K25.3|K25.4|K25.5|K25.6|K25.7,,, 3133,spondyloepimetaphyseal_dysplasia_strudwick_type,,,,,,,Q77.7, 3134,schwachman_diamond_type_metaphyseal_dysplasia,,,,,,,, 3135,otospondylomegaepiphyseal_dysplasia,otospondylomegaepiphyseal_dysplasia,,,,,,Q77.7,254060000 3136,schmid_metaphyseal_chondrodysplasia,schmid_metaphyseal_chondrodysplasia,,,,,C537352,Q78.5,29248006 3137,mckusick_type_metaphyseal_dysplasia,,,,,,,, 3138,middle_ear_cholesterol_granuloma,,385.82,,28371001,,,, 3139,jansens_metaphyseal_chondrodysplasia,,,,,,C537564,Q78.5,24629003 3140,granular_cell_tumor,granular_cell_tumor,,D016586,189954007|12169001|404035005,,,, 3141,skin_granular_cell_tumor,,,,254763007,,,, 3142,fourth_cranial_nerve_palsy,fourth_nerve_palsy,,,,H49.1,,, 3143,dysbaric_osteonecrosis,dysbaric_osteonecrosis,,,,,,, 3144,abducens_nerve_disease,abducens_nerve,378.54,D020434,4892003|46587002|14720007|82373004|398925009|398760006|230533001|398963001,H49.2,,, 3145,total_third_nerve_palsy,,378.52,D015840,194119004|85522003,,,, 3146,partial_third_nerve_palsy,,378.51,D015840,3171005|420289002|194118007,H49.0,,, 3147,testicular_spermatocytic_seminoma,,,,,,,, 3148,clitoris_cancer,,184.3,,188213003|269604005|93758009|371979001|154535008,C51.2,,, 3149,age_related_macular_degeneration,,362.50,D008268,155112007|193384000|267718000|18222007|193385004,,,, 3150,rhinosporidiosis,rhinosporidiosis,117.0,D012227,18140003,B48.1,,, 3151,chylocele_of_tunica_vaginalis,,608.84,,7864001,,,, 3152,voyeurism,voyeurism,302.82,D014843,63835008|192515002,F65.3,,, 3153,sexual_masochism,sexual_masochism,302.83,D008398,51239001|248104007,,,, 3154,adult_xanthogranuloma,,,,,,,, 3155,luteoma,luteoma,,,,,,, 3156,uterine_corpus_atypical_polypoid_adenomyoma,,,,,,,, 3157,murray_valley_encephalitis,,062.4,,66454007,A83.4,,, 3158,eastern_equine_encephalitis,eastern_equine_encephalitis,062.2,D020242,40177004|417496004|416925005,A83.2,,A83.2, 3159,angiodysplasia_of_intestine,,569.84,,32868004|235853006,,,, 3160,western_equine_encephalitis,western_equine_encephalitis,062.1,D020241,47523006,A83.1,,A83.1,47523006 3161,japanese_encephalitis,japanese_encephalitis,062.0,D004672,52947006|266194002|154345006,A83.0,D004672,A83.0,52947006 3162,st_louis_encephalitis,,062.3,D004674,10429004|417192005|417607009,A83.3,D004674,A83.3,417192005|417607009 3163,dyspepsia,dyspepsia,,D004415,139299007|249510006|196752002|87548005|155722007|266505001|162031009,K30,,, 3164,upper_clivus_meningioma,,,,,,,, 3165,central_breast_papilloma,,,,,,,, 3166,achondrogenesis_type_ia,,,,,,C536015,Q77.0,42725006 3167,microscopic_breast_papilloma,,,,,,,, 3168,albrights_hereditary_osteodystrophy,,,,,,C537045,E20.1|Q78.1,58833000 3169,penile_urethral_cancer,,,,,C60,,, 3170,atypical_breast_papilloma,,,,,,,, 3171,acromesomelic_dysplasia_hunter_thompson_type,,,,,,,Q78.8, 3172,fibular_collateral_ligament_bursitis,,726.63,,202870007|77323000,,,, 3173,acromesomelic_dysplasia_grebe_type,,,,,,,Q78.8, 3174,achondrogenesis_type_ib,,,,,,,Q77.0, 3175,crouzon_syndrome,crouzon_syndrome,,D003394,28861008,,,Q75.1,28861008 3176,mandibular_cancer,,,D008339,187915001|126551000,C41.1,,, 3177,achondrogenesis_type_ii,,,,,,C536017,Q77.0,254061001|205483007 3178,intrahepatic_biliary_papillomatosis,,,,,,,, 3179,inflammatory_liposarcoma,,,,28655007,,,, 3180,status_asthmaticus,status_asthmaticus,493.91,D013224,57546000|195980003|266363006|155577001|36979006,J46,,, 3181,intrinsic_asthma,,493.1,,266397004|195973000|8312004|266361008|195976008|155576005,,,, 3182,lower_clivus_meningioma,,,,,,,, 3183,orbital_plasma_cell_granuloma,,,D016727,72789009|302901005,,,, 3184,stereotypic_movement_disorder,stereotypic_movement_disorder,307.3,D019956,191993004|5507002,,,, 3185,atrophy_of_prostate,,602.2,,29524003,N42.2,,, 3186,spondylolysis,spondylolysis,,D013169,203688008|240221008,M43.0,,, 3187,lung_superior_sulcus_carcinoma,,,,,,,, 3188,urethral_false_passage,,599.4,,74944002,,,, 3189,craniometaphyseal_dysplasia,,,,,,,Q78.8,36601008 3190,sost_related_sclerosing_bone_dysplasia,sost,,,,,C537525,Q87.8|M85.2,403772000|17568006 3191,hilar_lung_carcinoma,,,,,,,, 3192,sacral_spinal_canal_and_spinal_cord_meningioma,,,,,,,, 3193,fibrous_dysplasia,fibrous_dysplasia,,,,,,, 3194,scotoma,scotoma,368.44,,193673000|33970004,,,, 3195,craniodiaphyseal_dysplasia,craniodiaphyseal_dysplasia,,,,,,M85.2,205506004 3196,axial_osteomalacia,axial_osteomalacia,,,,,,, 3197,bestiality,bestiality,302.1,,31997002|154907002|268763002|81463002,,,, 3198,spondyloepimetaphyseal_dysplasia_missouri_type,,,,,,C537351,Q78.5|Q77.7,254085009 3199,acromesomelic_dysplasia_maroteaux_type,,,,,,C535661,Q77.8, 3200,fallopian_tube_cystadenofibroma,,,,,,,, 3201,malt_workers_lung,,495.4,,25897000,J67.4,,, 3202,pycnodysostosis,pycnodysostosis,,,,,D058631,Q78.8, 3203,worths_syndrome,,,,,,,, 3204,urethral_diverticulum,,599.2,,90531003,N36.1,,, 3205,nocardiosis,nocardiosis,,D009617|C536125,186404005|187337003|29227009,A43|A43.9,C536125,A43,29227009 3206,hypochondrogenesis,hypochondrogenesis,,,,,,, 3207,hypochondroplasia,hypochondroplasia,,,,,,Q77.4,205468002 3208,taylors_syndrome,,625.5,,156027002|39402007,,,, 3209,parapharyngeal_meningioma,,,,,,,, 3210,fibrogenesis_imperfecta_ossium,,,,,,,, 3211,pseudoachondroplasia,pseudoachondroplasia,,,,,C535819,Q77.8,22567005 3212,stickler_syndrome,stickler_syndrome,,,,,,Q37, 3213,kniest_dysplasia,kniest_dysplasia,,,,,C537207,Q77.7,53974002 3214,carotid_artery_dissection,carotid_artery_dissection,443.21,,230729006,,,, 3215,west_nile_fever,,066.4|066.40,D014901,12381007|417093003,,,, 3216,neuroaxonal_dystrophy,,,D019150,230365004,,,, 3217,croup,croup,464.4,D003440,195702002|71186008|155510007,J05.0,,, 3218,postphlebitic_syndrome,postphlebitic_syndrome,459.1,D011186,155460004|410013001|20427003,,,, 3219,epiglottitis,epiglottitis,,D004826,29608009|80384002|195701009|155509002,J05.1,,, 3220,microcephaly,microcephaly,742.1,D008831,204030002|156893009|1829003|204031003,,,, 3221,tracheitis,tracheitis,,D014136,195693005|62994001|26650005|155507000,J04.1,,, 3222,relapsing_remitting_multiple_sclerosis,,,D020529,426373005,,,, 3223,chronic_progressive_multiple_sclerosis,,,D020528,230373008,,,, 3224,polyclonal_hypergammaglobulinemia,,273.0,,190808009|190811005,,,, 3225,fuchs_heterochromic_uveitis,fuchs_heterochromic_iridocyclitis,364.21,,11226001,,,H20.8, 3226,glaucomatocyclitic_crisis,,364.22,,29538005,,,, 3227,hereditary_elliptocytosis,hereditary_elliptocytosis,282.1,D004612,58864003|267558001|191169008|154801000|178935009,D58.1,,, 3228,monoclonal_paraproteinemia,,273.1,,267440005|190812003,,,, 3229,generalized_atherosclerosis,,440.9,,39823006|367108003,I70.9,,, 3230,lens_induced_iridocyclitis,,364.23,,70461003,H20.2,,, 3231,hemochromatosis,hemochromatosis,,D006432,399187006|86781004|154751003|399144008|267504005,,,, 3232,infectious_anterior_uveitis,,364.03,,193487008|89114005,,,, 3233,myelophthisic_anemia,myelophthisic_anemia,,D000750,2694001,,,, 3234,gonococcal_iridocyclitis,,098.41,,9091006|186922002,,,, 3235,staphyloenterotoxemia,,005.0,D013202,84622004,,,, 3236,bipolar_i_disorder,bipolar_i_disorder,296.50,,49468007,,,, 3237,osteochondritis_dissecans,osteochondritis_dissecans,,D010007,156822009|268027006|70736000|268125000|82562007|203424002|156821002|203425001,M93.2,,, 3238,degenerative_disc_disease,degenerative_disc_disease,,,156633005,M51.8,,, 3239,vestibular_nystagmus,,379.54,,46888001,,,, 3240,kernicterus,kernicterus,,D007647,74925009|230770008|268880009|206479002|157135006|50143004,P57|P57.0|P57.8|P57.9,,, 3241,neonatal_myasthenia_gravis,,775.2,D020941,82178003,,,, 3242,myotonic_cataract,,366.43,,64741003,,,, 3243,phaeohyphomycosis,phaeohyphomycosis,,,,,,, 3244,geniculate_ganglionitis,geniculate_ganglionitis,351.1,D005155,155071009|72839009|267704007,G51.1,,, 3245,atypical_follicular_adenoma,,,,128892009,,,, 3246,glandular_cystitis,,,,72815004,,,, 3247,adult_epithelioid_sarcoma,,,,,,,, 3248,wernicke_encephalopathy,,,D014899,190626005|21007002|190627001,E51.2,,, 3249,clear_cell_squamous_cell_skin_carcinoma,,,,254652000,,,, 3250,acute_poststreptococcal_glomerulonephritis,,,,68544003,,,, 3251,acute_diffuse_nephritis,,,,197585004,,,, 3252,plasmodium_falciparum_malaria,,084.0,D016778,248441000|62676009|187504004|186802002,B50|B50.0|B50.9,,, 3253,blackwater_fever,blackwater_fever,084.8,D001742,56625005,,,, 3254,cerebral_malaria,,,D016779,53622003|186799006,,D008288,B50|B51|B52|B53|B54,105649009|248437004|61462000 3255,lymphangitis,lymphangitis,457.2,D008205,266335009|1415005,I89.1,,, 3256,chronic_ethmoiditis,,473.2,,73237007|155528009|266384001,J32.2,,, 3257,acquired_gastric_outlet_stenosis,,537.0,,13483000|196759006|266438007|196762009|155725009,K31.1,,, 3258,boutonneuse_fever,boutonneuse_fever,082.1,D001907,186778008|59742009|186779000|186774005|186780002|414658000,,D001907,A77.1,186774005 3259,anterior_urethra_cancer,,,,,,,, 3260,renal_artery_atheroma,,440.1,,45281005|155416004,I70.1,,, 3261,infertility_due_to_extratesticular_cause,,606.8,,84245004|198011008|198017007,,,, 3262,epicondylitis,epicondylitis,,,24133009|202855006|156659008|73583000|268088003,M77.0|M77.1,,, 3263,intratubular_embryonal_carcinoma,,,,,,,, 3264,root_caries,root_caries,521.08,D017213,234975001|30512007,K02.2,,, 3265,synovial_angioma,,,,,,,, 3266,rectal_prolapse,rectal_prolapse,569.1,D012005,197215006|57773001|197212009|197214005|155802002,K62.3,,, 3267,meningeal_melanomatosis,,,,128731008,,,, 3268,glucocorticoid_remediable_aldosteronism,glucocorticoid_remediable_aldosteronism,255.11,,,,,E26.0, 3269,toxic_labyrinthitis,,386.34,,3344003,,,, 3270,vulva_fibroepithelial_polyp,,,,,,,, 3271,olfactory_neural_tumor,,,,,,,, 3272,neurofibroma_of_the_heart,,,,,,,, 3273,bulbomembranous_urethral_cancer,,,,,C68.0,,, 3274,splenic_tuberculosis,,017.7,D014400,28399005,,,, 3275,megaloblastic_anemia,,,D000749,191166001|154792007|191138009|267554004|154788000|191165002|234357005|53165003,,,, 3276,pernicious_anemia,pernicious_anemia,281.0,D000752,84027009|191139001|154789008,,,, 3277,adult_pleomorphic_rhabdomyosarcoma,,,,,,,, 3278,chronic_rhinitis,,472.0,,195764003|270532004|195774000|86094006|155522005,J31.0,,, 3279,adult_brain_ependymoma,,,,,,,, 3280,chronic_tubotympanic_suppurative_otitis_media,,382.1,,87665008,H66.1,,, 3281,labia_majora_carcinoma,,,,,,,, 3282,polycystic_ovary_syndrome,polycystic_ovary_syndrome,256.4,D011085,271199009|237055002|190549002|154714009|69878008|237792009,E28.2,,, 3283,hyperandrogenism,hyperandrogenism,,D017588,237793004,,,, 3284,abnormality_of_glucagon_secretion,,251.4,,11178005|190442008,,,, 3285,neonatal_leukemia,,,,,,,, 3286,extrahepatic_biliary_papillomatosis,,,,,,,, 3287,glossopharyngeal_neuralgia,,352.1,D020435,43763009,,,G52.1,43763009 3288,scrub_typhus,scrub_typhus,081.2,D012612,73911003|240621000|240622007|186768005|240620004|271425001,,D012612,A75.3,271425001 3289,kawasaki_disease,kawasaki_disease,446.1,D009080,195348009|195349001|155444003|75053002,M30.3,,M30.3, 3290,dipetalonemiasis,,125.4,D004154|C538509,360423002|15629006|40229007,,,, 3291,alpha_1_antitrypsin_deficiency,alpha_1-antitrypsin_deficiency,273.4,D019896|C531610,30188007|154771007,I46|I46.0,,, 3292,fibrodysplasia_ossificans_progressiva,fibrodysplasia_ossificans_progressiva,728.11,D009221,240121004|205527009|82725007,M61.1,D009221,M61.1,82725007 3293,temporal_arteritis,temporal_arteritis,446.5,D013700,400130008|414341000|87511001|195356007|195357003|155442004|195355006|195354005,M31.5,D013700,M31.6,400130008|414341000 3294,infant_gynecomastia,,778.7,D006177,34831003|157159001,P83.4,,, 3295,dracunculiasis,dracunculiasis,125.7,D004320,48874008|396334002,B72,D004320,B72,396334002 3296,tinea_manuum,tinea_manuum,110.2,,48971001,B35.2,,, 3297,legg_calve_perthes_disease,,,D007873,203371007|15739006|156817009|203372000|240169001|111255008|203365001|203367009|240241003|270545000,M91|M91.2|M91.3,,M91.1, 3298,chronobiology_disease,,,D021081,,,,, 3299,coats_disease,coats_disease,362.12,D058456,193359003|25506007|193360008|360455002,,D058456,H35.0,25506007|360455002 3300,childhood_multilocular_cystic_kidney_neoplasm,,,,,,,, 3301,accommodative_spasm,accommodative_spasm,367.53,,30069002,,,, 3302,presbyopia,presbyopia,367.4,D011305,155135005|41256004,H52.4,,, 3303,stiff_person_syndrome,stiff_person_syndrome,333.91,D016750,5217008,,,G25.8,5217008 3304,labyrinthine_bilateral_reactive_loss,,386.56,,2058001|194377001,,,, 3305,tinea_profunda,,,,58950002|186995009|214600002,,,, 3306,myxedema,myxedema,,D009230,267465007|154660000|43153006|190274003,,,, 3307,dresslers_syndrome,dresslers_syndrome,411.0,,66189004,I24.1,,, 3308,thyroid_hormone_resistance_syndrome,thyroid_hormone_resistance,,,111567006|50375007|237559000|237560005,,,E07.8,237560005 3309,pedophilia,pedophilia,302.2,D010378,192516001|268763002|154907002|84002002,F65.4,,, 3310,laryngeal_cartilage_cancer,,161.3,,109370001|187847005|363431006,C32.3,,, 3311,chondromalacia_patellae,chondromalacia_patellae,717.7,D046789,36071006|156521009,M22.4,,, 3312,senile_ectropion,,374.11,,71659009,,,, 3313,capillary_leak_syndrome,capillary_leak_syndrome,,D019559,87730004,,,, 3314,critical_illness_polyneuropathy,critical_illness_polyneuropathy,357.82,D011115,230594005,,,, 3315,diffuse_interstitial_keratitis,,370.52,,193785001|17157001|267635007,,,, 3316,ego_dystonic_sexual_orientation,ego-dystonic_sexual_orientation,302.0,,52813007,F66.1,,, 3317,breast_osteosarcoma,,,,,,,, 3318,pelvic_muscle_wasting,,618.83,,,,,, 3319,adult_spinal_cord_ependymoma,,,,,,,, 3320,dental_pulp_necrosis,necrotic_pulp,522.1,D003790,42711005|196334004|196332000,K04.1,,, 3321,penile_neoplasm,penile_neoplasms,,D010412,126896003,,,, 3322,tuberculum_sellae_meningioma,,,,,,,, 3323,acute_pyelonephritis,,590.1,,155862004|22352007|266620001|197771007|36689008,,,, 3324,blue_color_blindness,,368.53,D003117,85049009|51886007,,,, 3325,mixed_ductal_endocrine_carcinoma,,,,396892009|999000,,,, 3326,colloid_carcinoma_of_the_pancreas,,,,,,,, 3327,cicatricial_pemphigoid,cicatricial_pemphigoid,694.6,D010390,200915000|34250006|76092003|193905009|194590009|200913007|200914001,H13.3|L12.1,,L12+|H13.3*, 3328,osteoclast_like_giant_cell_neoplasm_of_the_pancreas,,,,,,,, 3329,jaw_winking_syndrome,,374.43,C535908,5127009|193949006|204090000|36603006|204089009,,,, 3330,median_neuropathy,median_neuropathy,354.1,,194512000|193127001,,,, 3331,epilepsy_with_generalized_tonic_clonic_seizures,,,D004830,352818000,,,, 3332,bilateral_hypoactive_labyrinth,,386.54,,71682006|194375009,,,, 3333,acinar_cell_cystadenocarcinoma,,,,128703004,,,, 3334,inflamed_seborrheic_keratosis,inflamed_seborrheic_keratosis,702.11,,442348004,,,, 3335,melanoacanthoma,melanoacanthoma,,,394727000|201096007,,,, 3336,signet_ring_cell_intrahepatic_cholangiocarcinoma,,,,,,,, 3337,pancreatic_colloid_cystadenoma,,,,,,,, 3338,hemoglobinuria,hemoglobinuria,791.2,D006456,68600005|158571004|207317003,D59.6|R82.3,,, 3339,nephrolithiasis,nephrolithiasis,592,D053040,197792007|155867005|266622009|266556005|197796005,N20-N23|N20,,, 3340,childhood_malignant_hemangiopericytoma,,,,,,,, 3341,childhood_malignant_schwannoma,,,,,,,, 3342,onchocerciasis,onchocerciasis,125.3,D009855,38539003,B73,D009855|D015827,B73,38539003|240842000 3343,acute_urate_nephropathy,acute_urate_nephropathy,274.11,,190831009|197793002|236495001|267441009|2738006|16410004,,,, 3344,hypotrichosis_of_eyelid,,374.55,,193959007|70738004,,,, 3345,hypopigmentation_of_eyelid,,374.53,,68210006|193958004,,,, 3346,pediatric_extraocular_retinoblastoma,,,,,,,, 3347,hypertrichosis_of_eyelid,,374.54,,79830009,,,, 3348,nephrosclerosis,nephrosclerosis,587,D009400,197662008|194773000|32916005|197658002,,,, 3349,panic_disorder,panic_disorder,,D016584,192400001|191705007|371631005|268627007,F41.0,,, 3350,patau_syndrome,patau_syndrome,758.1,C536305,156995003|205622008|157021007|268357008|268344000|21111006|254267009,Q91.7,,Q91.4|Q91.5|Q91.6|Q91.7, 3351,agoraphobia,agoraphobia,,D000379,247830007|70691001|192394003|154885006,F40.0,,, 3352,partial_circumpapillary_choroid_dystrophy,,363.51,,193466003|42175004,,,, 3353,late_yaws,,102.1,,69008006|57186002|186968004|22071004|68556002,A66.4,,, 3354,early_yaws,,102.0,,23191004|59227007|186969007|30283007|266147005|49442000|77912009,A66.0|A66.6,,, 3355,central_nervous_system_rhabdomyosarcoma,,,,,,,, 3356,mediastinum_rhabdomyosarcoma,,,,,,,, 3357,myopathy_of_critical_illness,critical_illness_myopathy,359.81,,443819006,,,, 3358,aortitis,aortitis,,D001025,70933002|195368003,I79.1,,, 3359,liver_rhabdomyosarcoma,,,,,,,, 3360,skeletal_muscle_neoplasm,,,,,,,, 3361,central_gyrate_choroidal_dystrophy,,363.54,,12778004|392049002|193469005,,,, 3362,meningoencephalitis,meningoencephalitis,,D008590,7125002,,,, 3363,osteomalacia,osteomalacia,268.2,D010018,4598005|190642003|154728003|190639009,,,, 3364,epididymal_neoplasm,,,,126902008,,,, 3365,scheuermanns_disease,,732.0,D012544,53406005|156816000|203364002|203361005|203362003|203415006,M42.0,,, 3366,ovary_rhabdomyosarcoma,,,,,,,, 3367,neonatal_abstinence_syndrome,neonatal_abstinence_syndrome,779.5,D009357,414819007|61628006,J70.4|Y57.9,,, 3368,radioulnar_synostosis,,755.53,,33313004,,,, 3369,supine_hypotensive_syndrome,supine_hypotensive_syndrome,669.20,,,O26.5,,, 3370,gallbladder_rhabdomyosarcoma,,,,,,,, 3371,rectum_rhabdomyosarcoma,,,,,,,, 3372,ectomesenchymoma,ectomesenchymoma,,,128750008,,,, 3373,blepharospasm,,333.81,D001764,155009007|267690000|59026006,G24.5,,, 3374,alveolar_rhabdomyosarcoma,alveolar_rhabdomyosarcoma,,C537604|D018232,404053004|63449009,,,, 3375,hydrarthrosis,,719.08,,202370001|156579009,,,, 3376,krabbe_disease,,,D007965,5710006|189979005|192782005,,,E75.2, 3377,adrenoleukodystrophy,,341.1,D000326|D002549,155059003|44875002|267702006|49692006|65389002|192932009,G37.0,D000326,E71.3|G37.0,65389002|49692006 3378,hypertropia,,378.31,D013285,40608009|194109005,,,, 3379,testis_rhabdomyosarcoma,,,,,,,, 3380,breast_rhabdomyosarcoma,,,,,,,, 3381,accommodative_esotropia,,378.35,,194112008|419494007|18369000,,,, 3382,cyclotropia,,378.33,,70486007,,,, 3383,anus_rhabdomyosarcoma,,,,,,,, 3384,wolman_disease,wolman_disease,,D015223,37896002|238074007|190795007|190797004|82500001,,,, 3385,mixed_type_rhabdomyosarcoma,,,,62383007,,,, 3386,regional_ureteric_cancer,,,,,,,, 3387,mild_pre_eclampsia,,642.40,,,,,, 3388,fabry_disease,fabry_disease,,C531676|D000795,236536000|16652001|124464003|190792005|190796008,,D000795,E75.2,124464003|16652001 3389,idiopathic_progressive_polyneuropathy,,356.4,,33209009|193164007,,,, 3390,internuclear_ophthalmoplegia,internuclear_ophthalmoplegia,378.86,D015835,49823009,H51.2,,, 3391,dumping_syndrome,dumping_syndrome,,D004377,266527005|80193009|197128007|155785007|266458008,,,, 3392,lipoid_proteinosis,lipoid_proteinosis,,D008065,238950006|38692000,,,E78.8, 3393,perianal_skin_pagets_disease,,,,,,,, 3394,toxic_pneumonitis,,506.9,,,J68.0,,, 3395,total_circumpapillary_dystrophy_of_choroid,,363.52,,59753003,,,, 3396,rectum_signet_ring_adenocarcinoma,,,,,,,, 3397,hypotropia,,378.32,,29491004,,,, 3398,monofixation_syndrome,monofixation_syndrome,378.34,,194111001|14785004,,,, 3399,duodenogastric_reflux,,,D004383,9733003,,,, 3400,tricuspid_valve_stenosis,tricuspid_valve_stenosis,,D014264,49915006|155346002|266296006,I07.0|I07.2,,, 3401,herpes_gestationis,herpes_gestationis,,D006559,199126002|156129002|270959002|199131000|86081009,O26.4,,, 3402,bile_duct_cystadenocarcinoma,,,,50422007,,,, 3403,chorea_gravidarum,chorea_gravidarum,,D020150,25113000,,,, 3404,sporotrichosis,sporotrichosis,117.1,D013174,42094007|154408001|187078008|266218008|187488001,B42|B42.9,D013174,B42,42094007 3405,metachromatic_leukodystrophy,metachromatic_leukodystrophy,,D007966,44359008|3621006|396338004|192784006,,,, 3406,retinitis_pigmentosa,,,D012174,155113002|28835009,,,, 3407,refsum_disease,refsum_disease,356.3,D012035,25362006,,D012035,G60.1,25362006 3408,ureteral_lymphoma,,,,,,,, 3409,congenital_toxoplasmosis,,,D014125,157118007|73893000|206335001|268875000,P37.1,D014125,P37.1,73893000 3410,acute_infection_of_pinna,,380.11,,56663002,,,, 3411,double_pterygium,,372.44,,41564009|193883003,,,, 3412,hantavirus_pulmonary_syndrome,hantavirus,,D018804,120639003,B33.4,,B33.4+|J17.1*, 3413,parasitic_conjunctivitis,,372.15,,13816006,,,, 3414,tricuspid_valve_insufficiency,,,D014262,111287006|266298007|155347006|251009000,,,, 3415,beach_ear,,380.12,,194201001|39149004|30250000,,,, 3416,chronic_fungal_otitis_externa,,380.15,,111898002|194209004,,,, 3417,diabetic_cataract,,366.41,,154678005|155129005|267471001|43959009|267722005,H28.0,,, 3418,anatomical_narrow_angle_borderline_glaucoma,,365.02,,,,,, 3419,hemangioma_of_orbit,,,,,,,, 3420,toxic_optic_neuropathy,toxic_optic_neuropathy,377.34,,26125006|194053003,,,, 3421,chronic_follicular_conjunctivitis,,372.12,,39429002,,,, 3422,malignant_otitis_externa,,380.14,,194206006|94146005,,,, 3423,cavernous_hemangioma_of_orbit,,,,254998002,,,, 3424,hypertrophy_of_tongue_papillae,,529.3,,196584007|6971002,K14.3,,, 3425,neuroleptic_malignant_syndrome,neuroleptic_malignant_syndrome,333.92,D009459,15244003|68977009|192826000,,D009459,G21.0,15244003 3426,pericardial_mesothelioma,,,,109383000|187885008,C45.2,,, 3427,thyroid_hyalinizing_trabecular_adenoma,,,,,,,, 3428,exocrine_pancreatic_insufficiency,exocrine_pancreatic_insufficiency,,D010188,47367009,,,, 3429,pyloric_antrum_cancer,,151.2,,93976007|187740000,C16.3,,, 3430,46_xy_gonadal_dysgenesis,,,D006061,95218005,,,, 3431,cardia_cancer,,151.0,,187732006|269526000|154447004|187735008|93738008,C16.0,,, 3432,mixed_gonadal_dysgenesis,,,D006060,83579008|205682006,,,, 3433,hyperinsulinemic_hypoglycemia,,,D046768,42681006|360337007|66149005|190450004|360339005|237649006,,,, 3434,malignant_mediastinum_hemangiopericytoma,,,,,,,, 3435,mediastinal_osteogenic_sarcoma,,,,,,,, 3436,hypokalemic_periodic_paralysis,hypokalemic_periodic_paralysis,,D020514|D020513|D010245,54696002|240093008|82732003|193241004|267607008|155099000|267714003,,,, 3437,farmers_lung,,495.0,D005203,18690003|155581001|266399001,J67.0,D005203,J67.0,18690003 3438,brucella_abortus_brucellosis,,023.1,D002007,186306008|9060000|427795000,,,, 3439,brucella_melitensis_brucellosis,,023.0,,30789005|427999003,,,, 3440,acute_eustachian_salpingitis,,381.51,,194268005|13043002,,,, 3441,hyperkalemic_periodic_paralysis,hyperkalemic_periodic_paralysis,,D020513,15973007|278513006|304737009,,C535409|D020513,G72.3,304737009|278513006 3442,46_xx_gonadal_dysgenesis,,,D023961,,,,, 3443,ovarian_endometrioid_neoplasm,,,,,,,, 3444,goodpasture_syndrome,,446.21,D019867,266323005|50581000|195351002|236506009|155445002,,,M31.0,50581000 3445,malignant_gastric_granular_cell_tumor,,,,,,,, 3446,tuberculous_peritonitis,,014.0,D014395,197170002|31838005|44572005,K67.3,,, 3447,diphtheritic_cystitis,,032.84,,48278001|197847008,,,, 3448,viral_pneumonia,viral_pneumonia,480.9|480,D011024,155549005|75570004|195883000|195880002,J12,,, 3449,gastric_lymphoma,gastric_lymphoma,,C535648,276811008,,,, 3450,hobnail_hemangioma,,,,,,,, 3451,central_nervous_system_hemangioma,,,,,,,, 3452,microinvasive_gastric_cancer,,,,276809004,,,, 3453,sclerosing_keratitis,,370.54,,194143001|27886001|417290008,,,, 3454,pancreatic_mucinous_ductal_ectasia,,,,,,,, 3455,cholinergic_urticaria,cholinergic_urticaria,708.5,,73098005,L50.5,,, 3456,bladder_diffuse_clear_cell_adenocarcinoma,,,,,,,, 3457,diphtheritic_peritonitis,,032.83,,13596001,,,, 3458,chronic_closed_angle_glaucoma,,365.23,,15417005|33647009|314542007,,,, 3459,tanycytic_ependymoma,,,,397378002|57706008,,,, 3460,clear_cell_ependymoma,,,,,,,, 3461,adjustment_disorder,,309|309.9,,17226007|192068001|268781004|367487002|63608001,F43.2,,, 3462,pediatric_ependymoma,pediatric_ependymoma,,,,,,, 3463,brain_stem_ependymoma,,,,,,,, 3464,papillary_ependymoma,,,D004806,128839002|112686007,,,, 3465,non_invasive_bladder_papillary_urothelial_neoplasm,,,,128625004,,,, 3466,cellular_ependymoma,,,D004806,253067007|253068002|57706008,,,, 3467,enteric_pattern_testicular_yolk_sac_tumor,,,,,,,, 3468,glassy_cell_variant_cervical_adenosquamous_carcinoma,,,,,,,, 3469,marables_syndrome,,447.4,,9250002,,,, 3470,periodontosis,periodontosis,523.5,D010520,,K05.4,,, 3471,pediculus_humanus_capitis_infestation,,132.0,,243682006|271544006|81000006,,,, 3472,villonodular_synovitis,,719.2|719.20,,202423001|95411002|34671005|202454002,M12.2,,, 3473,chordoid_meningioma,,,,57606003|399709001,,,, 3474,adult_malignant_schwannoma,,,,,,,, 3475,cronkhite_canada_syndrome,,,,,,,,76304001 3476,peritoneal_serous_papillary_adenocarcinoma,,,,15674004,,,, 3477,childhood_mature_teratoma_of_the_ovary,,,,,,,, 3478,adult_type_testicular_granulosa_cell_tumor,,,,,,,, 3479,reticular_pattern_testicular_yolk_sac_tumor,,,,,,,, 3480,trombiculiasis,,,D014323,,,,, 3481,osteoarthritis,osteoarthritis,715.3,,,,,, 3482,adenoid_squamous_cell_carcinoma,adenoid_squamous-cell_carcinoma,,,85956000|403901001|15176003,,,, 3483,ampulla_of_vater_squamous_cell_carcinoma,,,,,,,, 3484,middle_ear_squamous_cell_carcinoma,,,,,,,, 3485,lacrimal_gland_squamous_cell_carcinoma,,,,,,,, 3486,type_1_papillary_adenoma_of_the_kidney,,,,,,,, 3487,type_2_papillary_adenoma_of_the_kidney,,,,,,,, 3488,keratinizing_squamous_cell_carcinoma,,,,189568009|18048008,,,, 3489,growth_hormone_secreting_pituitary_adenoma,growth_hormone-secreting_pituitary_adenoma,,D049912,254957009,,,, 3490,malignant_growth_hormone_secreting_neoplasm_of_pituitary,,,,,,,, 3491,basaloid_squamous_cell_carcinoma,basaloid_squamous-cell_carcinoma,,,128634009,,,, 3492,colon_squamous_cell_carcinoma,,,,,,,, 3493,gastric_squamous_cell_carcinoma,,,,,,,, 3494,nasal_cavity_squamous_cell_carcinoma,,,,,,,, 3495,lumbar_plexus_neoplasm,,,,,,,, 3496,familial_renal_oncocytoma,,,,,,,, 3497,mediastinum_seminoma,,,,,,,, 3498,pediculus_humanus_corporis_infestation,,132.1,,25188002,,,, 3499,miliary_tuberculosis,miliary_tuberculosis,018|018.9|018.90,D014391,186280001|187295007|47604008|154291001,A19,,, 3500,pineal_dysgerminoma,,,,,,,, 3501,tsh_producing_pituitary_tumor,,,,254959007,,,D35.2,254959007 3502,malignant_acth_producing_neoplasm_of_pituitary_gland,,,,,,,, 3503,prostate_transitional_cell_carcinoma,,,,,,,, 3504,malignant_thyroid_stimulating_hormone_producing_neoplasm_of_pituitary_gland,,,,,C73,,, 3505,gastric_cardia_adenocarcinoma,,,,,,,, 3506,urethra_transitional_cell_carcinoma,,,,,,,, 3507,papillary_transitional_carcinoma,,,,12400006,,,, 3508,spindle_cell_carcinoma,spindle_cell_carcinoma,,D002277,65692009|23109009,,,, 3509,sarcomatoid_transitional_cell_carcinoma,,,,112676006,,,, 3510,toxic_maculopathy,,362.55,,44115007|193389005,,,, 3511,intestinal_disaccharidase_deficiency,,271.3,,,,,, 3512,hereditary_fructose_intolerance_syndrome,,271.2,D005633,20290005|237962008|20052008,,D005633,E74.1,20052008 3513,ovarian_mucinous_malignant_adenofibroma,,,,,,,, 3514,inflammatory_breast_carcinoma,inflammatory_breast_cancer,,D058922,254840009,,,, 3515,endometrial_transitional_cell_carcinoma,,,,,,,, 3516,ovary_transitional_cell_carcinoma,transitional_cell_carcinoma_of_the_ovary,,,,,,, 3517,schneiderian_carcinoma,,,,5600009,,,, 3518,follicular_dendritic_cell_sarcoma,follicular_dendritic_cell_sarcoma,,D054740,128816008,,D054740,C82,128816008 3519,fallopian_tube_transitional_cell_carcinoma,,,,,,,, 3520,becker_muscular_dystrophy,,359.0,,193222002|193221009|111501005|193224001,,C537666,G71.0,387732009 3521,cardiovascular_syphilis,,093.89|093.8,,186882000|111823001|186880008,A52.0|I98.0,,, 3522,lingual_facial_buccal_dyskinesia,,333.82,D009069,267689009|192861006|155007009|49386006,,,, 3523,central_nervous_system_lipoma,,,,,,,, 3524,corpus_callosum_lipoma,,,,,,,, 3525,eosinophilic_gastritis,,535.7,C535952,66329006|196738004,,,, 3526,viral_esophagitis,,,,235603003,,,, 3527,eosinophilic_gastroenteritis,eosinophilic_gastroenteritis,558.41,C535952,359804008|32183007,,C535952,K52.8,359804008 3528,necrotizing_gastritis,,,,,,,, 3529,granulomatous_gastritis,,,,,,,, 3530,fungal_gastritis,,,,,,,, 3531,bacterial_gastritis,,,,,,,, 3532,lymphocytic_gastritis,,,,360375007|235658000,,,, 3533,epicardium_lipoma,,,,,,,, 3534,alternating_esotropia,,378.05,,194080005|39837002,,,, 3535,angioma_serpiginosum,angioma_serpiginosum,,C536366,11790000|195382003|49465005,,,L81.7, 3536,childhood_cerebellar_astrocytic_neoplasm,,,,,,,, 3537,urethral_gland_abscess,,597.0,,197901001|197899005|197900000|197902008|67277002,N34.0,,, 3538,linitis_plastica,linitis_plastica,,D008039,37995004|307594007,,,, 3539,ureterocele,ureterocele,,D014518,12818004,,,, 3540,steatitis,,,D013231,,,,, 3541,scirrhous_adenocarcinoma,,,D002293,4584002,,,, 3542,pancreatic_gastrinoma,,,,,,,, 3543,lung_papillary_adenocarcinoma,,,,,,,, 3544,volkmann_contracture,,958.6,D054061,111247001|157667008,,,, 3545,ferguson_smith_tumor,,,,254659009,,,, 3546,acute_apical_periodontitis,,522.4,,109605000|196338001|88071000,K04.4,,, 3547,portal_vein_thrombosis,portal_vein_thrombosis,452,,155455003|17920008,I81,,I81,17920008 3548,lung_giant_cell_carcinoma,giant-cell_carcinoma_of_the_lung,,D018286,254631008|42596004,,,, 3549,inhibited_male_orgasm,inhibited_male_orgasm,,,191795002|81903006,,,, 3550,gastrinoma,gastrinoma,,D015408,302824004|134156006|16189002,,,, 3551,gastric_gastrinoma,,,,,,,, 3552,vipoma,vipoma,,D003969,253005002,,D003969,D13.7, 3553,congenital_granular_cell_tumor,,,,,,,, 3554,lymph_node_palisaded_myofibroblastoma,,,,,,,, 3555,mixed_endometrial_stromal_and_smooth_muscle_tumor,,,,,,,, 3556,sclerosing_adenosis_of_breast,,,,,,,, 3557,malignant_acrospiroma,malignant_acrospiroma,,,403939009|400208002,,,, 3558,beckwith_wiedemann_syndrome,beckwith-wiedemann_syndrome,,D001506,81780002,,D001506,Q87.3,81780002 3559,early_invasive_cervical_adenocarcinoma,,,,,,,, 3560,nonossifying_fibromyxoid_tumor,,,,,,,, 3561,fallopian_tube_squamous_cell_carcinoma,,,,,,,, 3562,aggressive_digital_papillary_adenocarcinoma,aggressive_digital_papillary_adenocarcinoma,,,,,,, 3563,eccrine_papillary_adenocarcinoma,,,,128898008,,,, 3564,breast_papillary_carcinoma,,,,,,,, 3565,gastric_papillary_adenocarcinoma,,,,,,,, 3566,papillary_thymic_adenocarcinoma,,,,,,,, 3567,fallopian_tube_serous_adenocarcinoma,,,,,,,, 3568,fallopian_tube_papillary_adenocarcinoma,,,,,,,, 3569,femoral_cancer,,,D005266,126583006,,,, 3570,pulmonary_artery_choriocarcinoma,,,,,,,, 3571,anal_neuroendocrine_tumor,,,,,,,, 3572,intestinal_variant_cervical_mucinous_adenocarcinoma,,,,,,,, 3573,villoglandular_variant_cervical_mucinous_adenocarcinoma,,,,,,,, 3574,childhood_choriocarcinoma_of_the_ovary,,,,,,,, 3575,ovarian_squamous_cell_neoplasm,,,,,,,, 3576,perineural_angioma,,,,,,,, 3577,microglandular_adenosis_of_breast,,,,,,,, 3578,appendicitis,appendicitis,540-543.99|541,D001064,196785005|74400008|307530000|155728006|155733005|155736002|155729003,K35|K37|K35.2|K35.3,,, 3579,sarcomatoid_squamous_cell_skin_carcinoma,,,,403900000|10288008|254653005,,,, 3580,ovarian_squamous_cell_carcinoma,,,,,,,, 3581,squamous_cell_bile_duct_carcinoma,,,,,,,, 3582,external_ear_squamous_cell_carcinoma,,,,,,,, 3583,ureter_squamous_cell_carcinoma,,,,,,,, 3584,endometrial_squamous_cell_carcinoma,,,,,,,, 3585,renal_pelvis_squamous_cell_carcinoma,,,,,,,, 3586,gallbladder_squamous_cell_carcinoma,,,,,,,, 3587,mediastinum_teratoma,,,,,,,, 3588,malignant_syringoma,,,,,,,, 3589,mediastinal_mesenchymal_tumor,,,,,,,, 3590,aortic_malignant_tumor,,,,,,,, 3591,epithelioid_malignant_peripheral_nerve_sheath_tumor,,,,19897006,,,, 3592,c3_deficiency,,,,,,,D84.1, 3593,pseudoglandular_variant_testicular_seminoma,,,,,,,, 3594,fallopian_tube_teratoma,,,,,,,, 3595,pineal_region_choriocarcinoma,,,,,,,, 3596,endocervical_type_cervical_mucinous_adenocarcinoma,,,,,,,, 3597,kohlers_disease,kohler_disease,732.5,,203397001|203392007|203393002|32491009,,,, 3598,hypercalcemic_type_ovarian_small_cell_carcinoma,,,,,,,, 3599,behcets_disease,,136.1,D001528,41225007|154424000|310701003,,D001528,M35.2,310701003 3600,adult_infiltrating_astrocytic_neoplasm,,,,,,,, 3601,pulmonary_type_ovarian_small_cell_carcinoma,,,,,,,, 3602,hypochromic_anemia,hypochromic_anemia,,D000747,44452003,,,, 3603,microphthalmia,microphthalmia,743.1|743.10,D008850,204110003|156902006|268310007|61142002|204108000|204104003|204107005,Q11.2,,Q11.2, 3604,primary_optic_atrophy,,377.11,,21098003,,,, 3605,internal_pathological_resorption,,521.41,,,,,, 3606,iron_deficiency_anemia,iron_deficiency_anemia,280.8,D018798,191131003|191129007|267514001,D50,,, 3607,haverhill_fever,haverhill_fever,026.1,,52138004,,,, 3608,siderosis_of_eye,,360.23,,25277000,,,, 3609,choledocholithiasis,choledocholithiasis,,D042883,197397004|197376000|49910001,,,, 3610,acute_endophthalmitis,,360.01,,1493002|193268004,,,, 3611,endometrial_mixed_adenocarcinoma,,,,,,,, 3612,bordetella_parapertussis_whooping_cough,,033.1,,77116006,,,, 3613,retinal_dystrophies_primarily_involving_bruchs_membrane,,362.77,,,,,, 3614,parametrium_malignant_neoplasm,,183.4,,93942003|188203006,C57.3,,, 3615,non_gestational_ovarian_choriocarcinoma,,,,,,,C56, 3616,pancreatic_steatorrhea,,579.4,,197487009|54576000|155845009,K90.3,,, 3617,round_ligament_malignant_neoplasm,,183.5,,93994001|188204000,C57.2,,, 3618,allergic_urticaria,,708.0,,156428000|201260002|40178009,L50.0,,, 3619,oculoglandular_tularemia,,021.3,,73363000,,,, 3620,acute_gonococcal_cervicitis,,098.15,,20943002,,,, 3621,protein_losing_enteropathy,protein_losing_enteropathy,,D011504,22542007|66972006,B82.0|B82.9|K90.9|P76.9,,, 3622,hereditary_coproporphyria,hereditary_coproporphyria,,D046349,238055004|7425008,,,, 3623,tropical_sprue,tropical_sprue,579.1,D013182,47384003|266547002|155846005,K90.1,,, 3624,macular_holes,macular_hole,,D012167,193388002|232006002,,,, 3625,blind_loop_syndrome,blind_loop_syndrome,579.2,D001765,66379009|77225009,K90.2,,, 3626,cowper_gland_carcinoma,,,,,,,, 3627,short_bowel_syndrome,short_bowel_syndrome,,D012778,235724004|204768009|26629001,,,, 3628,adult_ependymoblastoma,,,,,,,, 3629,celiac_disease,celiac_disease,579.0,D002446,396331005|23829007|197481005|275404008|155842007|45259000|266478000|197477005,K90.0,,, 3630,suprasellar_meningioma,,,,,,,, 3631,rickets,rickets,,D012279,190639009|190640006|68295002|41345002|154728003,E55|E55.0,,, 3632,chronic_tic_disorder,,307.22,D013981,192623005,,,, 3633,skin_epithelioid_hemangioma,,,D000796,254791004|400131007,,,, 3634,gasserian_ganglion_meningioma,,,,,,,, 3635,malignant_granular_cell_skin_tumor,,,,,,,, 3636,glucose_intolerance,glucose_intolerance,,D018149,,K90.4,,, 3637,odontoclasia,,521.05,,196305005,K02.4,,, 3638,steatorrhea,steatorrhea,,D045602,66187002,,,, 3639,tuberculous_empyema,,,D004654,14527007|186184002,,,, 3640,lactose_intolerance,lactose_intolerance,,D007787,267497007|154736007|190750000|190757002|267425008,E73,,, 3641,typhoid_fever,typhoid_fever,002.0,D014435,266174006|186091002|154270009|4834000,A01.0,,A01.0, 3642,mesenteric_vascular_occlusion,mesenteric_vascular_occlusion,,D008641,,,,, 3643,diverticulitis_of_colon,,562.12,,,,,, 3644,acantholytic_squamous_cell_skin_carcinoma,,,,254654004,,,, 3645,cholangiolocellular_carcinoma,,,,,,,, 3646,facioscapulohumeral_muscular_dystrophy,facioscapulohumeral_muscular_dystrophy,,D020391,56096001|399091004,,,G71.0, 3647,lyme_disease,lyme_disease,088.81,D008193,48982009|23502006|154376000|240672009,A69.2,D008193,A69.2,23502006 3648,distal_muscular_dystrophy,distal_muscular_dystrophy,,D049310,58795000,,,, 3649,multiple_spinal_canal_and_spinal_cord_meningioma,,,,,,,, 3650,pneumatosis_cystoides_intestinalis,,,D011006,17465007,,,, 3651,limb_girdle_muscular_dystrophy,limb-girdle_muscular_dystrophy,,D049288,56096001|93153005,,,, 3652,glycogen_storage_disease_vii,glycogen_storage_disease_type_vii,,D006014,89597008|234406005,,,E74.0,234406005 3653,intestinal_tuberculosis,,014.8,,,,,, 3654,cornelia_de_lange_syndrome,cornelia_de_lange_syndrome,,D003635|C536441,40354009,,,, 3655,emery_dreifuss_muscular_dystrophy,,,D020389,193233004|129620000|111508004,,,G71.0, 3656,mucocele_of_appendix,,,,53773002,,,, 3657,duchenne_muscular_dystrophy,duchenne_muscular_dystrophy,,D020388,129619006|267712004|387732009|76670001|155095006,,D020388,G71.0,76670001 3658,dentin_sensitivity,,,D003807,13468005,,,, 3659,childhood_intracortical_osteosarcoma,,,,,,,, 3660,sarcomatosis_of_the_meninges,,,,14494009,,,, 3661,sarcomatosis,,,,9395006|189765009,,,, 3662,chronic_laryngitis,,476.0,,195815004|29951006|155535001|195816003,J37.0,,, 3663,erythropoietic_protoporphyria,erythropoietic_protoporphyria,,D046351,51022005,,,, 3664,mixed_cell_type_adenoma_of_parathyroid,,,,,,,, 3665,parathyroid_oncocytic_adenoma,,,,,,,, 3666,phthisical_cornea,,371.05,,193801004|28143002,,,, 3667,cutaneous_porphyria,,,D017092,22935002|67312003|190913009,,,, 3668,chronic_congestive_splenomegaly,,289.51,,191382009,D73.2,,, 3669,splenic_sequestration,,289.52,,,,,, 3670,biphasic_synovial_sarcoma,,,,18588008,,,, 3671,necrosis_of_ear_ossicle,,385.24,,,,,, 3672,juvenile_rheumatoid_arthritis,juvenile_rheumatoid_arthritis,714.31,,201799006|83793004|7441009|201798003|201809006|75822003|201803007|74391003,M08|M09|M08.0|M08.2|M08.4|M09.8,,M08.2, 3673,progressive_supranuclear_palsy,progressive_supranuclear_palsy,,D013494,192975003|192976002|28978003,G23.1,,G23.1, 3674,monophasic_synovial_sarcoma,,,,,,,, 3675,epithelioid_cell_synovial_sarcoma,,,,56422000,,,, 3676,blind_hypertensive_eye,,360.42,,264008|193286001,,,, 3677,regular_astigmatism,,367.21,,68905002,,,, 3678,progressive_bulbar_palsy,progressive_bulbar_palsy,335.22,D010244,54304004|230547002,,,, 3679,leukocoria,leukocoria,360.44,,1361009|193288000,,,, 3680,crater_like_holes_of_optic_disc,,377.22,,194048008|19148004,,,, 3681,spontaneous_ocular_nystagmus,,379.53,D009759,246784009|39771000|45339001,,,, 3682,parathyroid_transitional_clear_cell_adenoma,,,,,,,, 3683,chief_cell_adenoma,,,,12205003,,,, 3684,blind_hypotensive_eye,,360.41,,193291000|4229009|23360000,,,, 3685,fibrosarcomatous_osteosarcoma,,,,12690005,,,, 3686,infiltrating_bladder_lymphoepithelioma_like_carcinoma,,,,,,,, 3687,scrotal_angioma,,,,,,,, 3688,hypoplastic_left_heart_syndrome,hypoplastic_left_heart_syndrome,746.7,D018636,62067003,Q23.4,D018636,Q23.4,62067003 3689,hemometra,hematometra,621.4,D006409,38280009,,,, 3690,norwegian_scabies,,,,187215008|128870005|67172004,,,, 3691,null_cell_leukemia,,,,277574007,,,, 3692,b_and_t_cell_mixed_leukemia,,,C535671|D015456,128818009|278453007,,,, 3693,chronic_endophthalmitis,,360.03,,13978000|193269007,,,, 3694,carotenemia,carotenemia,278.3,,35487009,,,, 3695,cleft_palate,cleft_palate,749.00|749.0,D002972,204593009|63567004|268196005|204605001|253986002|156940009|87979003,,,, 3696,amphetamine_abuse,,305.7,,,,,, 3697,paragonimiasis,paragonimiasis,121.2,D010237,240808009|30369007|240807004,B66.4,,, 3698,myositis_ossificans,myositis_ossificans,,D009221,57879007|156720008|203030008|44551007,,,, 3699,systemic_primary_carnitine_deficiency_disease,systemic_primary_carnitine_deficiency,277.81,C536778,21764004,,,E71.3, 3700,angiokeratoma_of_fordyce,,,,6331000|254789007|238747004,,,, 3701,waterhouse_friderichsen_syndrome,waterhouse-friderichsen_syndrome,,D014884,267484005|154709005,A39.1,D014884,A39.1+|E35.1*,36102002 3702,chronic_dacryocystitis,,375.42,,84627005|193990009,,,, 3703,dacryocystocele,dacryocystocele,375.43,,42758002,,,, 3704,separation_anxiety_disorder,separation_anxiety_disorder,,,,,,, 3705,central_pontine_myelinolysis,central_pontine_myelinolysis,,D017590,6807001,G37.2,,, 3706,fat_necrosis_of_breast,,611.3,,21381006,N64.1,,, 3707,chronic_canaliculitis,,375.41,,26479009,,,, 3708,lactocele,lactocele,611.5,C535998,42385006,,,, 3709,protozoal_dysentery,,007.8,,186127007|187279007,A07.8,,, 3710,acquired_immunodeficiency_syndrome,acquired_immunodeficiency_syndrome,,D000163,186705005|234644008|62479008|266201009|186715004,,,, 3711,residual_stage_corticosteroid_induced_glaucoma,,365.32,,52519003,,,, 3712,thrombophlebitis_migrans,,453.1,,31268005|155491005|155456002,I82.1,,, 3713,acute_disseminated_encephalomyelitis,acute_disseminated_encephalomyelitis,,D004673,83942000,G04.0,,G04.0, 3714,constant_exophthalmos,,376.31,,194015008|89907009,,,, 3715,progressive_multifocal_leukoencephalopathy,progressive_multifocal_leukoencephalopathy,046.3,D007968,22255007,A81.2,D007968,,22255007 3716,viral_encephalitis,viral_encephalitis,,D004671,285756005|186499007|186498004|192687008|20411005|68197003,A83|A84|A86|A85.8,,, 3717,parietal_lobe_neoplasm,,191.3,,93946000|126956001|363469001,C71.3,,, 3718,kuru_encephalopathy,kuru_disease,046.0,D007729,192684001|86188000,,,, 3719,lipoatrophic_diabetes,lipoatrophic_diabetes,,D003923|C538560,127012008|408543001|71325002,,,, 3720,infected_hydrocele,,603.1,,11666007,N43.1,,, 3721,gestational_diabetes,gestational_diabetes,,D016640,199232003|237629002|359964007|393568003|11687002,,,, 3722,diabetic_angiopathy,diabetic_angiopathy,,D003925,,,,, 3723,central_corneal_ulcer,,370.03,,7426009|193761009,,,, 3724,neonatal_diabetes_mellitus,neonatal_diabetes_mellitus,775.1,,49817004,,,P70.2,49817004 3725,prediabetes_syndrome,,,D011236,9414007|15777000,,,, 3726,t_lymphocyte_deficiency,,,,402792003,,,, 3727,oculopharyngeal_muscular_dystrophy,oculopharyngeal_muscular_dystrophy,,D039141,77097004,,D039141,G71.0,77097004 3728,antidepressant_type_abuse,,305.8,,,,,, 3729,postencephalitic_parkinson_disease,,,D010301,19972008|192828004,G21.3,,F02.3|G20,19972008 3730,estrogen_excess,hyperestrogenism,256.0,,190533004|37295009,,,, 3731,substernal_goiter,,,D006045,190234009|66392007,,,, 3732,parkinsons_disease,parkinsons_disease,332|332.0,D010300,155002003|49049000|154999006|192825001|192831003|155000006,G20,,, 3733,colon_leiomyoma,,,,,,,, 3734,colonic_lymphangioma,,,,,,,, 3735,developmental_coordination_disorder,developmental_coordination_disorder,315.4,D019957,27544004|192578006,,,, 3736,selective_iga_deficiency_disease,,,D017098,190979003|29260007,D80.2,,D80.2,234551007 3737,lipoma_of_colon,,,,,,,, 3738,pleuropneumonia,pleuropneumonia,,D011001,60485005,,,, 3739,alzheimers_disease,alzheimers_disease,331.0,D000544|C536597,267688001|192164001|192160005|73768007|26929004|154998003,F00|G30|F00.0|F00.1|G30.0|G30.1|G30.9,,, 3740,transient_hypogammaglobulinemia_of_infancy,transient_hypogammaglobulinemia_of_infancy,,,88714009,D80.7,,D80.7,88714009 3741,mediastinum_neuroblastoma,,,,,,,, 3742,generalized_anxiety_disorder,generalized_anxiety_disorder,300.02,,21897009|192401002|191706008,F41.1,,, 3743,mediastinum_ganglioneuroblastoma,,,,,,,, 3744,plasmodium_malariae_malaria,,084.2,,27618009,B52|B52.0|B52.8|B52.9,,, 3745,marfan_syndrome,marfan_syndrome,759.82,D008382,268359006|19346006|157024004|157033002,Q87.4,D008382,Q87.4,19346006 3746,mixed_malaria,,084.5,,21070001,,,, 3747,schizotypal_personality_disorder,schizotypal_personality_disorder,301.22,D012569,31027006|231486008,,,, 3748,acute_inferoposterior_infarction,,410.30,,,,,, 3749,suppurative_thyroiditis,,,D013969,25476006|3511005,,,, 3750,acute_inferolateral_myocardial_infarction,,410.20,,,,,, 3751,right_bundle_branch_block,right_bundle_branch_block,426.51,,46319007,,,, 3752,background_diabetic_retinopathy,,362.01|362.03,,390718008|154680004|31411005|390834004,,,, 3753,partial_optic_atrophy,,377.15,,194044005|111527005,,,, 3754,riedels_fibrosing_thyroiditis,,,,,,,, 3755,acute_anterolateral_myocardial_infarction,,410.0,,70211005,,,, 3756,acute_thyroiditis,acute_thyroiditis,245.0,,190293001|190295008|154665005,E06.0,,, 3757,submucous_uterine_fibroid,,218.0,,95279007,D25.0,,, 3758,nodular_prostate,,600.1,,,,,, 3759,wolfram_syndrome,wolfram_syndrome,,D014929,70694009,,D014929,E10.7|H48.0,70694009 3760,follicular_mucinosis,follicular_mucinosis,,D000507,201150001|27382006,L65.2,,, 3761,meibomian_cyst,meibomian_cyst,373.2,D017043,155172004|397514009|1482004|267736000|155173009,H00.1,,, 3762,proliferative_diabetic_retinopathy,,362.02,,59276001|154679002,,,, 3763,internal_hordeolum,internal_hordeolum,373.12,,397514009|15750009|95752007|414521009,,,, 3764,frontalis_acne,,706.0,,201211007|23894009|201210008|267815009|201212000,L70.2,,, 3765,brown_sequard_syndrome,brown-sequard_syndrome,,D018437,27982003,,,, 3766,aids_phobia,,,,,,,, 3767,cancerophobia,cancerophobia,,,191730005|300930008|34563004,,,, 3768,flying_phobia,flying_phobia,,,247854002|192045005,,,, 3769,hole_retinal_cyst,,362.54,,193388002|267612009|1079004,,,, 3770,animal_phobia,animal_phobias,,,54307006|247848003|192396001,,,, 3771,water_clear_cell_adenoma,,,,26638004,,,, 3772,microcystic_adenoma,microcystic_adenoma,,D000236,79494009|189580001,,,, 3773,bronchitis,bronchitis,490,D001991,155566007|266380005|155512004|195940007|10509002|266395007|155572007|155616009|155515002|195956002|195713004|63480004|195733000|32398004|266354009|195936003,J20|J42|B18.9|I25.9|J20.0|J20.1|J20.2|J20.3|J20.4|J20.5|J20.6|J20.7|J20.8|J32.9|J35.9|J44.1|J44.9|K29.5|K73.9|N11.9|N18.9,,, 3774,pagets_disease_of_bone,,,C538098|D010001,156811005|203354006|156812003|2089002|203353000,M88,,, 3775,uterine_corpus_epithelioid_leiomyosarcoma,,,,,,,, 3776,anal_canal_carcinoma,,,,285310000,C21.1,,, 3777,gliomatosis_cerebri,gliomatosis_cerebri,,D018302,26138003,,,, 3778,hereditary_night_blindness,,368.61,C537743,193688005|193689002|89208008|193687000,,,, 3779,jugular_foramen_meningioma,,,,,,,, 3780,lateral_ventricle_meningioma,,,,,,,, 3781,renal_pelvis_inverted_papilloma,,,,,,,, 3782,intracerebral_cystic_meningioma,,,,,,,, 3783,maple_bark_strippers_lung,,495.6,,86638007,J67.6,,, 3784,rheumatic_myocarditis,,391.9,,312591002|4536006|155270000|194750008|194713007|8805001|195136004|266285003|367538001,I00|I01|I01.2|I09.0,,, 3785,transient_retinal_arterial_occlusion,,362.34,,193377008|87224000,,,, 3786,thoracic_spinal_canal_and_spinal_cord_meningioma,,,,,,,, 3787,signet_ring_cell_variant_cervical_mucinous_adenocarcinoma,,,,,,,, 3788,herpetic_gastritis,,,,,,,, 3789,primary_hypertrophic_osteoarthropathy,primary_hypertrophic_osteoarthropathy,,D010004,88220006|201124000|223726008|239052008,,,, 3790,polyhydramnios,polyhydramnios,657.0|657,D006831,199645005|267261001|156188008|199644009|199648007|199650004|86203003|157052008,O40,,, 3791,brawny_scleritis,,379.06,,91612009,,,, 3792,ebstein_anomaly,,746.2,D004437,204357006|1796006|253443005|253468007,Q22.5,,Q22.5, 3793,uterine_carcinosarcoma,,,,,,,, 3794,patellofemoral_pain_syndrome,patellofemoral_pain_syndrome,,D046788,,,,, 3795,familial_renal_papillary_carcinoma,,,,,,,, 3796,childhood_embryonal_testis_carcinoma,,,,,,,, 3797,vulvar_dystrophy,,624.0,,198378001|51689003|198381006,,,, 3798,childhood_choriocarcinoma_of_the_testis,,,,,,,, 3799,neurogenic_arthropathy,,713.5,D001177,156514009|201734004|77602000|239824003|359554008|67536000|60730005|268056006,M14.6,,, 3800,hypoglycemia,hypoglycemia,251.2,D007003,154693009|190433001|271327008|66694000|237630007|302866003|190436009|154691006,,,, 3801,leopard_syndrome,leopard_syndrome,,D044542,111306001|403537000,,,,45167004 3802,prostatic_urethra_urothelial_carcinoma,,,,,,,, 3803,peripartum_cardiomyopathy,peripartum_cardiomyopathy,674.5,,,,,O90.3,16253001|62377009 3804,orbit_lymphoma,orbital_lymphoma,,C537131,13048006,,,, 3805,acute_female_pelvic_peritonitis,,614.5,,198170004|198168008|198167003|266583006|85051008,N73.3,,, 3806,hypervitaminosis_a,hypervitaminosis_a,278.2,D006986,64559002,E67.0,,, 3807,hypervitaminosis_d,,278.4,,27712000|190969000,E67.3,,, 3808,heroin_dependence,heroin_dependence,,D006556,231477003|192220003|191817000,,,, 3809,nasal_cavity_carcinoma_in_situ,,,,92663007,,,, 3810,cocaine_dependence,cocaine_dependence,304.2|304.20,D019970,31956009|191834008|286934009|192254002|191829009|191830004,,,, 3811,mediastinum_synovial_sarcoma,,,,,,,, 3812,spindle_cell_synovial_sarcoma,,,,37206003,,,, 3813,afferent_loop_syndrome,,,D000343,20813000,,,, 3814,thyroid_malformation,,,,,,,, 3815,endemic_goiter,endemic_goiter,240.0,D006043,191043000|190319000|271949009|267369002|190234009|190316007|56805008,E01.2,,, 3816,physiological_polycythemia,,,,,,,, 3817,nodular_goiter,nodular_goiter,,D006044,419153005|237570007|190236006,,,, 3818,lingual_goiter,,,D047268,75667007,,,, 3819,follicular_infundibulum_tumor,follicular_infundibulum_tumor,,,254694002,,,, 3820,retinal_melanoma,,,,423673009,,,, 3821,uterine_corpus_adenofibroma,,,,,,,, 3822,clear_cell_adenofibroma,,,,58161009,,,, 3823,cervical_adenofibroma,,,,,,,, 3824,papillary_adenofibroma,,,,2962009,,,, 3825,fibrous_synovial_sarcoma,,,,,,,, 3826,nontoxic_goiter,,,,154650009|60968001|267463000|286908001|154654000|267369002,E04.8,,, 3827,malignant_glandular_tumor_of_peripheral_nerve_sheath,,,,,,,, 3828,breast_apocrine_carcinoma_in_situ,,,,,,,, 3829,conjunctival_intraepithelial_neoplasm,,,,418134006,,,, 3830,cochlear_disease,cochlear_diseases,,D015834,,,,, 3831,childhood_kidney_angiomyolipoma,,,,,,,, 3832,carcinoma_arising_in_nasal_papillomatosis,,,,,,,, 3833,congenital_fibrosarcoma,,,,52040006|403996004,,,, 3834,colloid_adenoma,,,,26545006,,,, 3835,biliary_tract_intraductal_papillary_mucinous_neoplasm,,,,,,,, 3836,reactive_arthritis,reactive_arthritis,099.3,D016918,67224007|201506009|154390002|56528004|154389006|266212009|201496000|236690002,M02.1|M02.3,D016918,M02.8,129133005|236690002|239783001|67224007 3837,rectum_kaposis_sarcoma,,,,,,,, 3838,corneal_intraepithelial_neoplasm,,,,420835009,,,, 3839,conventional_malignant_hemangiopericytoma,,,,,,,, 3840,inflammatory_mfh,,,,,,,, 3841,microinvasive_cervical_squamous_cell_carcinoma,,,,,,,, 3842,pulmonary_venoocclusive_disease,,,D011668,89420002,,D011668,,89420002 3843,laryngeal_neuroendocrine_tumor,,,,,,,, 3844,meckels_diverticulitis,,,,48241004,,,, 3845,malignant_cornea_melanoma,,,,255009006,,,, 3846,actinomycosis,actinomycosis,039.9|039,D000196,187335006|154314007|50508009|186405006|266185008|238416009|186402009|11817007,A42|A42.9|B47.1,,, 3847,spiradenoma,spiradenoma,,,4977000|403938001,,,, 3848,eccrine_acrospiroma,,,D018250,253020008|254719003|81143000|400099008|81393009,,,, 3849,syringocystadenoma_papilliferum,syringocystadenoma_papilliferum,,,239121009|8934006,,,D23.9,239121009 3850,eccrine_papillary_adenoma,papillary_eccrine_adenoma,,,134345002|189674003|253021007|10060008,,,, 3851,whipple_disease,,040.2,D008061,41545003,,C531849|D008061,K90.8+|M14.8*,41545003 3852,localized_scleroderma,localized_scleroderma,701.0,D012594,201046006|201048007|90424004|201047002|201052007,L94.0|L94.9|R22.9,D012594,L94.0,201048007 3853,clear_cell_hidradenoma,clear_cell_hidradenoma,,,81143000|400099008|254719003,,,, 3854,intrahepatic_bile_duct_adenoma,,,,,,,, 3855,pancreatic_acth_hormone_producing_tumor,,,,,,,, 3856,papillary_hidradenoma,papillary_hidradenoma,,,307597000|134157002|89791006,,,, 3857,scrapie,scrapie,,D012608,35103004,,,, 3858,bovine_spongiform_encephalopathy,bovine_spongiform_encephalopathy,,D016643,52869003,,,, 3859,abdominal_aortic_aneurysm,abdominal_aortic_aneurysm,,D017544,233985008|155422008,I71.4,,I71.4, 3860,ruptured_abdominal_aortic_aneurysm,,441.3,,14336007,I71.3,,, 3861,bladder_urachal_adenocarcinoma,,,,,,,, 3862,aicardi_syndrome,aicardi_syndrome,,D058540,80651009,H32|H30.9,D058540,Q04.0,80651009 3863,urinary_bladder_villous_adenoma,,,,,,,, 3864,flat_retinoschisis,,361.11,,83405000|193332006,,,, 3865,pellagra,pellagra,265.2,D010383,154725000|238127001|418186002|267491008|418279001|56550003,E52,D010383,E52,418186002|418279001 3866,bladder_flat_intraepithelial_lesion,,,,,,,, 3867,choline_deficiency_disease,choline,,D002796,238113006,,,, 3868,pyridoxine_deficiency_anemia,,266.1,D026681,386080007|18881008,D55|D55.0|D55.1|D55.2|D55.3|D55.9|D64.8|D64.9,,, 3869,lung_combined_type_small_cell_carcinoma,,,,,,,, 3870,leptomeninges_sarcoma,,,,78303004,,,, 3871,premature_ovarian_failure,premature_ovarian_failure,,D016649,237788002,,,, 3872,maxillary_sinus_adenocarcinoma,,,,,,,, 3873,dissecting_aortic_aneurysm,dissecting_aortic_aneurysm,441.0,,67076004|155420000|308546005,,,, 3874,ovarian_hyperstimulation_syndrome,ovarian_hyperstimulation_syndrome,,D016471,129635004,,D016471,N98.1,129635004 3875,pancreatic_non_invasive_intraductal_papillary_mucinous_carcinoma,,,,,,,, 3876,ariboflavinosis,ariboflavinosis,266.0,D012257,154726004|20307000|267492001,E53.0,,, 3877,intestinal_impaction,,560.39,,197540000,,,, 3878,intussusception,,560.0,D007443,35327006|197055000|155772009|49723003,K56.1,,, 3879,intestinal_volvulus,volvulus,560.2,D045822,197057008|197061002|9707006|155774005,K56.2,,, 3880,schizoaffective_disorder,schizoaffective_disorder,295.7,D011618,231490005|191575006|191567000|191568005|68890003|192345003,F25|F25.9,,, 3881,sphenoid_sinus_inverted_papilloma,,,,,,,, 3882,lung_oat_cell_carcinoma,,,D018288,189555001|74364000|76817009,,,, 3883,sphenoid_sinus_schneiderian_papilloma,,,,,,,, 3884,lung_occult_small_cell_carcinoma,,,,,,,, 3885,testicular_fibroma,,,,,,,, 3886,testicular_thecoma,,,,,,,, 3887,hemoglobin_e_disease,,,,25065001,,,D58.2,25065001 3888,paralytic_ileus,,560.1,D007418,55525008|155773004,K56.0,,, 3889,brachial_plexus_lesion,brachial_plexus_lesion,353.0,,3548001|193109004,S14.3,,, 3890,hemoglobin_d_disease,,,,66729008,,,D58.2,66729008 3891,skin_pilomatrix_carcinoma,pilomatrix_carcinoma,,,307610008|24762001,,,, 3892,megaesophagus,megaesophagus,,D004931,70667005,,,, 3893,gout,gout,274.0|274.00,D015210,48440001|190827003|147966005|190828008|90560007|170733007|154745008|201661008|201662001|190844004|201672003|154746009,M10|M10.3|M10.9|M14.0,,, 3894,middle_ear_adenoma,,,,,,,, 3895,oxyphilic_adenoma,,,D018249,89439007,,,, 3896,breast_hemangiopericytoma,,,,,,,, 3897,pilomatrixoma,pilomatrixoma,,D018296,44155009|274901004,,D018296,D23,274901004|44155009 3898,retroperitoneal_hemangiopericytoma,,,,,,,, 3899,esophageal_diverticulosis,,,D045723,,,,, 3900,female_breast_nipple_and_areola_cancer,,174.0,,188147009|188150007,,,, 3901,schwannoma_of_ureter,,,,,,,, 3902,ureter_leiomyoma,,,,,,,, 3903,dissociated_nystagmus,,379.55,D009759,9520006,,,, 3904,mixed_cell_adenoma,,,,89773001,,,, 3905,bartholins_gland_adenoma,,,,,,,, 3906,lipoadenoma,,,,22024005,,,, 3907,bullous_pemphigoid,bullous_pemphigoid,694.5,D010391,156356009|86142006|77090002|200912002,L12|L12.0|L12.9,D010391,L12.0,77090002 3908,subcorneal_pustular_dermatosis,subcorneal_pustular_dermatosis,694.1,D012872,25147002,L13.1,,L13.1,25147002 3909,juvenile_dermatitis_herpetiformis,,694.2,,5906000|200900001|267799009,,,, 3910,hereditary_retinal_dystrophy,,362.70|362.7,,41799005|193417000|193399000|267615006,H35.5,,, 3911,impetigo_herpetiformis,impetigo_herpetiformis,694.3,,200973000|65539006,,,, 3912,allergic_bronchopulmonary_aspergillosis,allergic_bronchopulmonary_aspergillosis,518.6,D001229,37981002,,D001229,B44.1,37981002 3913,prepuce_cancer,,187.1,,363450006|93805009,C60.0,,, 3914,spermatic_cord_cancer,,187.6,,269606007|154537000|94065000|363453008,C63.1,,, 3915,prolactin_producing_pituitary_tumor,,,,,,,, 3916,scrotum_melanoma,,,,,,,, 3917,prolactinoma,prolactinoma,,D015175,367098005|34337008|134209002,,D015175,D35.2|E22.1,134209002|34337008 3918,acidophil_adenoma,,,D000239,21109002,,,, 3919,clear_cell_adenoma,,,,1752006,,,, 3920,pediatric_supratentorial_ependymoma,,,,,,,, 3921,extrahepatic_bile_duct_papillary_adenoma,,,,,,,, 3922,pediatric_infratentorial_ependymoma,,,,,,,, 3923,barbiturate_abuse,,305.43,,,,,, 3924,puerperal_pulmonary_embolism,,673,,237341004|200321008|156273009|200326003|200320009|200284000|50286006,,,, 3925,small_intestinal_l_cell_glucagon_like_peptide_producing_tumor,,,,,,,, 3926,acute_cor_pulmonale,,415.0,,49584005|155325006|194881008,,,, 3927,pulmonary_embolism_and_infarction,,415.1,,,,,, 3928,endocervical_carcinoma,,,,372098004,C53.0,,, 3929,scrotum_squamous_cell_carcinoma,,,,276860003,,,, 3930,inhibited_female_orgasm,,,,191794003|60103007,,,, 3931,monocular_exotropia,,378.11,D005099,5725006|194087008,,,, 3932,crescentic_glomerulonephritis,crescentic_glomerulonephritis,,,236398000|45406000,,,, 3933,indeterminate_leprosy,,030.2,,14386001,A30.0,,, 3934,acrodysostosis,acrodysostosis,,C538179,66758006,,C538179,Q75.4,66758006 3935,lumbar_spinal_canal_and_spinal_cord_meningioma,,,,,,,, 3936,localized_intraductal_papillomatosis,,,,,,,, 3937,breast_intraductal_papillomatosis,,,,,,,, 3938,hypertelorism_microtia_facial_clefting_syndrome,,,C537632,,,,, 3939,multiple_intestinal_atresia,,,,95472001,,,Q43.8, 3940,esophageal_candidiasis,esophageal_candidiasis,112.84,,20639004|187023002,,,, 3941,benign_renovascular_hypertension,,405.11,,,,,, 3942,fungal_esophagitis,,,,235602008,,,, 3943,suppurative_uveitis,,,D015829,,,,, 3944,wolffian_adnexal_neoplasm,,,C536741,,,,, 3945,childhood_central_nervous_system_mixed_germ_cell_tumor,,,,,,,, 3946,gonococcal_spondylitis,,098.53,,186929006|53664003,,,, 3947,coronary_artery_anomaly,coronary_artery_anomaly,746.85,,204380003|28574005|204373000|361215006,,,, 3948,coronary_artery_vasospasm,coronary_vasospasm,,D003329,23687008,,,, 3949,pediatric_infratentorial_ependymoblastoma,,,,,,,, 3950,periductal_breast_myoepitheliosis,,,,,,,, 3951,coronary_thrombosis,coronary_thrombosis,,D003328,194796000|155304006|398274000|266288001|66514008,,,, 3952,hellp_syndrome,hellp_syndrome,,D017359,95605009|199010001,O14.2,,, 3953,werdnig_hoffmann_disease,,335.0,D014897,155016008|64383006|267694009,,,, 3954,exophthalmic_ophthalmoplegia,,376.22,,69763009,,,, 3955,hordeolum_externum,hordeolum_externum,373.11,,1489008|193912000,,,, 3956,acute_gonococcal_endometritis,,098.16,,65295003|186913003,,,, 3957,transient_refractive_change,,367.81,,81519008,,,, 3958,pregnancy_adenoma,,,,128651002,,,, 3959,denture_stomatitis,,,D013282,196576008|69254008,,,, 3960,paronychia,paronychia,,D010304,156305000|267830000|200643006|71906005,,,, 3961,breast_cystic_hypersecretory_carcinoma,,,,,,,, 3962,abnormal_threshold_of_rods,,368.63,,50455002|193692003,,,, 3963,squamous_papillomatosis,,,,82049002,,,, 3964,anal_gland_adenocarcinoma,anal_gland_adenocarcinoma,,,128655006,,,, 3965,subareolar_duct_papillomatosis,,,,65787003,,,, 3966,breast_ductal_adenoma,,,,,,,, 3967,protein_deficiency_anemia,,281.4,,191159002|85746008|191156009,D53.0,,, 3968,ceruminoma,ceruminoma,,,52707009|403945001,,,, 3969,peripheral_focal_chorioretinitis,,363.04,,56787009,,,, 3970,bladder_leiomyoma,,,,,,,, 3971,chronic_erythremia,,207.1,,269478004|48292007|188753004|92810002|190042004,,,, 3972,osteosarcoma_arising_in_bone_pagets_disease,,,,,,,, 3973,intracranial_vasospasm,,,D020301,,,,, 3974,hcl_v,,,,54087003|277568007,,,C91.4, 3975,refractory_hairy_cell_leukemia,,,,,,,, 3976,cicatricial_entropion,,374.04,,67383002,,,, 3977,mechanical_entropion,,374.02,,38683003,,,, 3978,macular_keratitis,,370.22,,2853006|193769006,,,, 3979,bladder_squamous_papilloma,,,,,,,, 3980,picks_disease,,331.11,D020774|C531778,267688001|13092008|192174003|154998003,F02.0,D057180|D057178,G31.0,230270009|68161007 3981,breast_apocrine_adenoma,,,,,,,, 3982,mixed_epithelial_mesenchymal_metaplastic_breast_carcinoma,,,,,,,, 3983,vitreous_syneresis,,379.21,,247090008|60189009,,,, 3984,childhood_central_nervous_system_mature_teratoma,,,,,,,, 3985,autoimmune_hemolytic_anemia,autoimmune_hemolytic_anemia,283.0,D000744,191215000|413603009|191209000|25121006|154803002,,,, 3986,ureteric_orifice_cancer,,188.6,,94122003|188245008,C67.6,,, 3987,urachus_cancer,urachus_cancer,188.7,,94120006|363456000,C67.7,,, 3988,urinary_bladder_posterior_wall_cancer,,188.4,,188243001|93972009,,,, 3989,cervical_adenoid_basal_carcinoma,,,,,,,, 3990,eyelid_carcinoma,,,,,,,, 3991,bladder_trigone_cancer,,188.0,,94109006|254931006|188239000,C67.0,,, 3992,bladder_sarcoma,,,,278046008,,,, 3993,nodular_episcleritis,,379.02,,70558001,,,, 3994,premenstrual_tension,premenstrual_tension,625.4,D011293,198407008|82639001|123076003|156026006,N94.3,,, 3995,female_stress_incontinence,,625.6,,60241006|156028007|266668007|198408003,,,, 3996,urinary_bladder_anterior_wall_cancer,,188.3,,93675008|188242006,,,, 3997,bladder_neck_cancer,,188.5,,188244007|94124002,C67.5,,, 3998,johanson_blizzard_syndrome,,,C535880,75979009,,C535880,Q87.8,75979009 3999,galactokinase_deficiency,,,C535999,124302001|18612007,,,, 4000,thrombocytopenia_absent_radius_syndrome,thrombocytopenia-absent_radius,,C536940,85589009,,,Q87.2|Q93.5, 4001,clouston_syndrome,clouston_syndrome,,D004476,54209007,,,, 4002,smith_lemli_opitz_syndrome,smith-lemli-opitz_syndrome,,D019082,43929004,,D019082,Q87.1,43929004 4003,glans_penis_cancer,,187.2,,93813005|363451005,C60.1,,, 4004,penis_sarcoma,,,,,,,, 4005,ovarian_endometrioid_malignant_adenofibroma,,,,,,,, 4006,vulvar_apocrine_adenocarcinoma,,,,,,,, 4007,ceruminous_carcinoma,ceruminous_adenocarcinoma,,,58069009,,,, 4008,clubfoot,clubfoot,754.51,C538680|D003025,205089003|249808002|156985005|15169008|268340009|397932003|253957000|268341008|33163000|156987002,,,Q66.8, 4009,epididymis_adenomatoid_tumor,,,,,,,, 4010,silver_russell_syndrome,,,D056730,15069006,,D056730,Q87.1,15069006 4011,raynaud_disease,raynauds_disease,443.0,D011928,195294005|195297003|155429004|22954002|195295006|123266007|266319002,I73.0,,, 4012,visual_epilepsy,,,D012640,39194005,,,, 4013,parotitis,parotitis,,D010309,196481002|196484005|14756005,,,, 4014,cortical_blindness,cortical_blindness,377.75,D019575,68574006,,,, 4015,sialadenitis,sialadenitis,527.2,D012793,42982001|155655005|266494007|196490009|196481002,K11.2,,, 4016,diastrophic_dysplasia,diastrophic_dysplasia,,C536170,58561002,,,Q77.5, 4017,axenfeld_rieger_syndrome,,,C535679,86628002|204154009|267585008|47507006,,,, 4018,adenomatoid_tumor,adenomatoid_tumor,,D018254,2348006|41183007|189835008,,,, 4019,binder_syndrome,,,C536036,,,,, 4020,cerebellar_liponeurocytoma,,,,128858006,,,, 4021,cowden_disease,cowden_disease,,D006223,67944007|58037000,,D006223,Q85.8|Q87.3|Q04.8,58037000|128791005|67944007 4022,active_peptic_ulcer_disease,,,,,,,, 4023,central_nervous_system_fibrosarcoma,,,,,,,, 4024,bladder_lymphoma,,,,,,,, 4025,bladder_dome_cancer,,188.1,,93678005|188240003,C67.1,,, 4026,hepatorenal_syndrome,hepatorenal_syndrome,572.4,D006530,51292008,K76.7,,, 4027,vacterl_association,vacterl_association,,C536534,27742002|205830006,,C536495|C536534,Q87.2,27742002 4028,multicentric_reticulohistiocytosis,multicentric_reticulohistiocytosis,,,190801003|84241008,M14.3,,D76.3, 4029,degenerative_myopia,,360.21,D047728,193625005|32022003|193278001|193276002,H44.2,,, 4030,lipoma_of_the_rectum,,,,,,,, 4031,anal_margin_basal_cell_carcinoma,,,,,,,, 4032,pigmented_basal_cell_carcinoma,pigmented_basal_cell_carcinoma,,,,,,, 4033,peptic_ulcer_perforation,,,D010439,155703003|196700003|266502003|88169003,,,, 4034,metatypical_basal_cell_carcinoma,,,,,,,, 4035,nodular_basal_cell_carcinoma,nodular_basal_cell_carcinoma,,,128636006|403910009,,,, 4036,bladder_tuberculosis,,016.1|016.10,,186237005|32268008,N33.0,,, 4037,anthracosilicosis,,,D000874,33548005,,,, 4038,situs_inversus,situs_inversus,759.3,D012857,205770007|157025003|205765000|24614000|27317008|157033002|254257004|43876007|268359006,Q89.3,,, 4039,slate_pneumoconiosis,,,,1259003,,,, 4040,kaolin_pneumoconiosis,,,,36696005,,,, 4041,siderosis,siderosis,,D012806,62371005|155591007|266401007,J63.4,,, 4042,byssinosis,byssinosis,,D002095,266400008|155589004|233689004|85761009,J66.0|J66.1,,, 4043,berylliosis,berylliosis,,D001607,8247009,J63.2,,, 4044,silicosis,silicosis,502,D012829,805002|155590008|196010000,,,, 4045,external_ear_basal_cell_carcinoma,,,,,,,, 4046,anthracosis,anthracosis,500,D055008,155588007|29422001,J60,,, 4047,caplans_syndrome,,,D002205,201813004|398640008|111280008,,,, 4048,pneumoconiosis_due_to_talc,,,,73144008,,,, 4049,micronodular_basal_cell_carcinoma,micronodular_basal_cell_carcinoma,,,,,,, 4050,sebaceous_basal_cell_carcinoma,,,,,,,, 4051,morpheaform_basal_cell_carcinoma,morpheaform_basal_cell_carcinoma,,,134152008|403913006|302821007|56665009,,,, 4052,fibroepithelial_basal_cell_carcinoma,,,,254703005|43369006,,,, 4053,adenoid_basal_cell_carcinoma,,,,,,,, 4054,clear_cell_basal_cell_carcinoma,,,,,,,, 4055,follicular_basal_cell_carcinoma,,,,,,,, 4056,adamantinoid_basal_cell_epithelioma,,,,402524007|254728002,,,, 4057,asbestosis,asbestosis,501,D001195,266400008|155589004|196006003|22607003,,,, 4058,muscular_atrophy,muscular_atrophy,,D009133,156721007|267693003|203036002|155014006|88092000|268104000|249827008,,,, 4059,baritosis,baritosis,,C537080,50076003,,,, 4060,infiltrative_basal_cell_carcinoma,infiltrative_basal_cell_carcinoma,,,,,,, 4061,mixed_mineral_dust_pneumoconiosis,,,,233759002,,,, 4062,intraocular_lymphoma,intraocular_lymphoma,,,,,,, 4063,breast_fibroadenosis,fibroadenosis_of_breast,610.2,,23260002|270893004|198092002,N60.2,,, 4064,fibrosclerosis_of_breast,fibrosclerosis_of_breast,610.3,,29070004,N60.3,,, 4065,scimitar_syndrome,,747.41,D012587|C536066,39905002,,,, 4066,end_stage_renal_failure,end-stage_renal_failure,,,,N18.5,,, 4067,retina_lymphoma,,,,232075002,,,, 4068,ovarian_papillary_cystadenoma,,,,,,,, 4069,double_outlet_right_ventricle,double_outlet_right_ventricle,745.11,D004310,204299009|204298001|7484005|204302009|204301002,Q20.0,D004310,Q20.0|Q20.1,204299009|7484005 4070,ovarian_surface_papilloma,,,,,,,, 4071,ovary_papillary_carcinoma,,,,,,,, 4072,solitary_cyst_of_breast,,610.0,,270538000|198090005|266578003,N60.0,,, 4073,blepharophimosis,,374.46,D016569,,,,, 4074,metanephric_adenoma,metanephric_adenoma,,,128670007,,,, 4075,glaucomatous_atrophy_of_optic_disc,,377.14,,1207009,,,, 4076,intravascular_fasciitis,,,,254738007,,,, 4077,melorheostosis,melorheostosis,,D008557,44697002|240173003,,,, 4078,tetralogy_of_fallot,tetralogy_of_fallot,745.2,D013771,204305006|156913009|268177006|204307003|86299006,Q21.3,D013771,Q21.3,86299006 4079,necrotizing_fasciitis,necrotizing_fasciitis,728.86,D019115,186428007|52486002,M72.6,,, 4080,ischemic_fasciitis,,,,403990005,,,, 4081,plantar_fasciitis,plantar_fasciitis,,D036981,2482001|202882003|156725003|203056001,,,, 4082,caffey_disease,caffey_disease,,D006958|C537958,24752008|123258003,,,M89.8, 4083,vesicoureteral_reflux,vesicoureteral_reflux,593.7,D014718,251994004|26836002|155875004|197811007,,,, 4084,non_congenital_cyst_of_kidney,,593.2,,105999006|266625006|197803002|155872001,,,, 4085,kidney_hypertrophy,,593.1,,197800004|88531004,,,, 4086,weissenbacher_zweym_252ller_syndrome,,,C537184|D010855,156908005|268313009|4602007,,,, 4087,alexander_disease,alexander_disease,,D038261,81854007,,D038261,E75.2,81854007 4088,conjunctivochalasis,conjunctivochalasis,372.81,,408663001,,,, 4089,eosinophilic_meningitis,,322.1,,25671008,,,, 4090,coronary_restenosis,,,D023903,,,,, 4091,gerstmann_straussler_scheinker_disease,gerstmann-straussler-scheinker_disease,046.71,D016098,67155006,,D016098,A81.8,67155006 4092,suppression_amblyopia,,368.01,D000550,35600002,,,, 4093,epididymis_adenocarcinoma,,,,,,,, 4094,orthostatic_proteinuria,,593.6,,32482005|78719009|155874000|77872002,,,, 4095,placental_choriocarcinoma,,,,,,,, 4096,scrotum_basal_cell_carcinoma,,,,,,,, 4097,penis_basal_cell_carcinoma,,,,,,,, 4098,infundibulocystic_basal_cell_carcinoma,,,,,,,, 4099,disuse_amblyopia,,368.02,,193638002|21457000,,,, 4100,acute_maxillary_sinusitis,,461.0,,155499007|68272006|18714001,J01.0,,, 4101,babesiosis,babesiosis,088.82,D001404,187241002|276204002|21061004,B60.0,D001404,B60.0,21061004 4102,congenital_nystagmus,,379.51,D020417,267750005|64635004|155205009|194173005,,,, 4103,ametropic_amblyopia,,368.03,,90927000,,,, 4104,amyotrophic_neuralgia,,353.5,D020968,26609002|193113006|3548001,G54.5,,, 4105,chronic_mucocutaneous_candidiasis,chronic_mucocutaneous_candidiasis,,D002178,234568006,,,, 4106,post_traumatic_stress_disorder,posttraumatic_stress_disorder,309.81,D013313,279611005|192036009|61157009|154959008|192415000|47505003|192414001|268791005,F43.1,,, 4107,sarcocystosis,sarcocystosis,136.5,D012523,88905005,,D012523,A07.8,88905005 4108,akinetic_mutism,akinetic_mutism,,D000405,53333005|5124002,,,, 4109,intravascular_angioleiomyoma,,,,,,,, 4110,encephalitozoonosis,,,D016890,12825006,,,, 4111,secondary_hypertrophic_osteoarthropathy,,731.2,D010005,222712005|46922002|203357004,,,, 4112,autoimmune_hepatitis,autoimmune_hepatitis,571.42,D019693,68784009|197284004|408335007,K75.4,,K75.4, 4113,anomalous_atrioventricular_excitation,,426.7,,17869006|195057009|266304003|155360000|195061003,,,, 4114,drug_induced_hepatitis,drug-induced_hepatitis,,D056487,235889003,,,, 4115,hepatitis_d,hepatitis_d,,D003699,424460009,,,, 4116,pelger_huet_anomaly,pelger-huet_anomaly,,D010381,191356000|85559002,,,, 4117,hepatitis_b,hepatitis_b,,D006509,266195001|66071002|186625003|154348008,,,, 4118,malignant_ovarian_brenner_tumor,,,D001948,42194009,,,, 4119,gait_apraxia,gait_apraxia,,D020235,30767006,,,, 4120,pneumonic_plague,pneumonic_plague,020.3,,35339003|38976008|67525007|186283004,A20.2,,, 4121,placental_abruption,placental_abruption,640.0,D000033,198882006|198885008|54048003|156098004,,,, 4122,perinatal_intestinal_perforation,perinatal_intestinal_perforation,777.6,,206526009|65390006,P78.0,,, 4123,seminal_vesicle_chronic_gonorrhea,,098.34,,23975003,,,, 4124,brainstem_intraparenchymal_clear_cell_meningioma,,,,,,,, 4125,chondroid_syringoma_of_the_vulva,,,,,,,, 4126,aphthous_stomatitis,aphthous_stomatitis,528.2,D013281,367526005|196536003|196534000|83312008|196529004|398870000|155661008|321258009|303117009|110426005|426965005|322224003,,,, 4127,minor_vestibular_glands_adenoma,,,,,,,, 4128,childhood_teratocarcinoma_of_the_testis,,,,,,,, 4129,clear_cell_variant_infiltrating_bladder_urothelial_carcinoma,,,,,,,, 4130,syringoma,syringoma,,D018252,71244007|302828001|134158007|189051001,,,, 4131,vulvar_syringoma,,,,,,,, 4132,systolic_heart_failure,,428.2|428.20,D054143,417996009,,,, 4133,vulvar_angiokeratoma,,,,402841001,,,, 4134,mucinous_cystadenofibroma,,,,10705005,,,, 4135,peroneal_neuropathy,peroneal_neuropathies,,D020427,,,,, 4136,vulvar_nodular_hidradenoma,,,,,,,, 4137,nodular_hidradenoma,nodular_hidradenoma,,,,,,, 4138,oral_mucosa_leukoplakia,,528.6,D007972,,,,, 4139,vulvar_melanoma,,,,254896002,,,, 4140,alveolar_soft_part_sarcoma,alveolar_soft_part_sarcoma,,D018234,404056007|88195001|302839003,,D018234,,404056007|88195001 4141,spindle_cell_sarcoma,spindle_cell_sarcoma,,D012509,9801004,,,, 4142,clear_cell_sarcoma,clear-cell_sarcoma,,D018227,12622007|402561003|271944004,,,, 4143,leber_hereditary_optic_neuropathy,,,D029242,58610003|230510002|194045006,H47.0,,H47.2, 4144,breast_epithelioid_hemangioma,,,,,,,, 4145,breast_capillary_hemangioma,,,,,,,, 4146,yellow_fever,yellow_fever,060.9|060,D015004,187411002|154345006|186587002|266194002|16541001,A95|A95.0|A95.1,D015004,A95,16541001 4147,adult_myxoid_chondrosarcoma,,,,,,,, 4148,splenic_manifestation_of_hairy_cell_leukemia,,,,,,,, 4149,extraskeletal_myxoid_chondrosarcoma,,,,404079008,,,,404079008 4150,pediatric_myxoid_chondrosarcoma,,,,,,,, 4151,vulval_pagets_disease,,,,254898001|403948004,,,, 4152,cervical_incompetence,cervical_incompetence,622.5,D002581,36836005|199481003|17382005|199480002|157049000|199486008|156172008,,,, 4153,dentin_dysplasia,dentin_dysplasia,,D003805,45742009|109492001,,D003805,K00.5,109492001 4154,vulvar_trichoepithelioma,,,,,,,, 4155,periosteal_osteogenic_sarcoma,,,,91242000|128772005,,,, 4156,endometrial_stromal_sarcoma,endometrial_stromal_sarcoma,,D018203,70555003,,D018203,C50, 4157,uterine_corpus_endometrial_stromal_sarcoma,,,,,,,, 4158,rete_testis_adenoma,,,,,,,, 4159,lung_acinar_adenocarcinoma,,,,,,,, 4160,bladder_signet_ring_cell_adenocarcinoma,,,,,,,, 4161,outlet_dysfunction_constipation,,564.02,,,,,, 4162,mediastinal_melanocytic_neurilemmoma,,,,,,,, 4163,eccrine_porocarcinoma,eccrine_porocarcinoma,,D057090,254708001|128685001,,,, 4164,uterine_ligament_clear_cell_adenocarcinoma,,,,,,,, 4165,vulvar_clear_cell_hidradenocarcinoma,,,,,,,, 4166,cervical_clear_cell_adenocarcinoma,,,,,,,, 4167,fallopian_tube_clear_cell_adenocarcinoma,,,,,,,, 4168,lichen_nitidus,lichen_nitidus,697.1,D017513,25147002|41890004,L44.1,,, 4169,noma,,528.1,D009625,399050001|266427007|196528007|18116006,,D009625,A69.0,18116006 4170,ovarian_clear_cell_adenocarcinoma,,,,,,,, 4171,vulvar_eccrine_porocarcinoma,,,,,,,, 4172,epithelial_myoepithelial_carcinoma,epithelial-myoepithelial_carcinoma,,,9618003|189722008,,,, 4173,urethra_clear_cell_adenocarcinoma,,,,,,,, 4174,gonococcal_keratitis,,098.43,,186924001|40149008,,,, 4175,ulcerative_colitis,ulcerative_colitis,556.9|556,D003093,441971007|266447004|155764007|196988003|64766004|27701000,K51,,, 4176,ampulla_of_vater_clear_cell_adenocarcinoma,,,,,,,, 4177,toxic_myocarditis,,422.93,,31993003,,,, 4178,asymmetric_motor_neuropathy,,,,,,,, 4179,glossopharyngeal_motor_neuropathy,,,D020435,,,,, 4180,gonorrhea,gonorrhea,098,D006069,187361005|266142004|15628003|186943001|60893000|154387008,,,, 4181,infiltrating_bladder_urothelial_carcinoma_sarcomatoid_variant,,,,,,,, 4182,ophthalmia_neonatorum,ophthalmia_neonatorum,771.6,,34298002|28438004|80881003|157120005|206354001|206345004,,,A54.3+|H13.1*,231858009 4183,infectious_mononucleosis,infectious_mononucleosis,075,D007244,314131007|154359004|187460007|186667007|26851006|186670006|186668002|271558008,B27|B27.0,C538582,Q87.0,70410008 4184,chronic_monocytic_leukemia,chronic_monocytic_leukemia,206.1,D007951,154595006|188745007|92816008|190060004|37810007|46236001,,,, 4185,gonococcal_endophthalmia,,098.42,,111807001|186923007,,,, 4186,subglottis_verrucous_carcinoma,,,,,,,, 4187,scarlet_fever,scarlet_fever,034.1,D012541,154304003|154301006|30242009|186357007|186362008|154303009,A38,,, 4188,acute_vascular_insufficiency_of_intestine,,557.0,C537347,91489000|197004007|196998009,,,, 4189,roberts_syndrome,roberts_syndrome,,C535687,48718006,,C535687,Q73.8,48718006 4190,glottis_verrucous_carcinoma,,,,,,,, 4191,supraglottis_verrucous_carcinoma,,,,,,,, 4192,burkitts_lymphoma,,200.2,D002051|D008223,118617000|22197008|77381001|277571004|188518008|190023003|190022008|397400006|188509006|154581008|188704004|189959002|118600007|188694002|414628006|189965002|269627002|21964009|188676008|188695001,C83.7,D002051|D008228,C83.7,118617000|22197008|397400006|77381001 4193,malignant_histiocytosis,malignant_histiocytosis,202.3,D054747,188643009|118612006|134179007|188690006|8139000|128920006|277648007|66855003,,,, 4194,malignant_cystic_nephroma,,,,,,,, 4195,pancreatic_foamy_gland_adenocarcinoma,,,,,,,, 4196,vulvar_alveolar_soft_part_sarcoma,,,,,,,, 4197,breast_scirrhous_carcinoma,,,,254839007,,,, 4198,sneddon_syndrome,,,D018860,238776001,,D018860,I77.8,238776001 4199,vertebral_artery_insufficiency,,,D014715,34781003|195198000,,,, 4200,glycogen_rich_clear_cell_breast_carcinoma,,,,189656007|74280008,,,, 4201,moyamoya_disease,moyamoya_disease,437.5,D009072,89142007|69116000,I67.5,C536991|D009072,I67.5,89142007|69116000 4202,branch_retinal_artery_occlusion,branch_retinal_artery_occlusion,362.32,D015356,50821009,,,, 4203,anterograde_amnesia,anterograde_amnesia,,D020324,88822006|206789002,R41.1,,, 4204,pineal_region_yolk_sac_tumor,,,,,,,, 4205,reticulosarcoma,,200.0|200.7,D008228,190012002|118604003|189986002|154579006|188497004|40152000|373168002|188488003|189983005|189982000,,,, 4206,central_retinal_artery_occlusion,central_retinal_artery_occlusion,362.31,D015356,38742007,H34.1,,, 4207,herpes_zoster,herpes_zoster,053,D006562,186514003|154326002|186533008|4740000,,,, 4208,central_nervous_system_endodermal_sinus_tumor,,,,,,,, 4209,childhood_endodermal_sinus_tumor,,,,,,,, 4210,gastroesophageal_reflux_disease,gastroesophageal_reflux_disease,530.81,D005764,155673008|54856001|102620007|196624002|196600005|266498005|235595009,,,, 4211,adult_endodermal_sinus_tumor,,,,,,,, 4212,cyclic_hematopoiesis,,288.02,C536227,191347008|234575007|69295006,,C536227,D70,191347008 4213,gestational_ovarian_choriocarcinoma,,,,,,,, 4214,asbestos_related_lung_carcinoma,,,,,,,, 4215,paraphimosis,paraphimosis,,D010263,13758004|155922002,,,, 4216,gingival_hypertrophy,gingival_hypertrophy,,D005886,54711002|441787004,,,, 4217,ulcer_of_lower_limbs,,,,,L97,,, 4218,cervical_lymphoepithelioma_like_carcinoma,,,,,,,, 4219,lymphoepithelioma_like_thymic_carcinoma,,,,,,,, 4220,nezelof_syndrome,nezelof_syndrome,279.13,C536288,55602000,D81.4,,, 4221,chronic_myeloid_leukemia,chronic_myeloid_leukemia,205.1,D015464,63364005|154592009|92818009|188735005,,,C92.1,63364005|92818009 4222,hyperinsulinism,hyperinsulinism,,D006946,267477002|83469008|154694003,,,, 4223,acquired_hyperkeratosis,,701.1,,20637002|201064004|267805003|400166009|201053002,,,, 4224,myxoid_liposarcoma,myxoid_liposarcoma,,D018208,27849002|404069006,,D008080|D018208,C49,254829001|49430005|27849002|404069006 4225,tinea_unguium,tinea_unguium,681.9,,,B35.1,,, 4226,focal_epithelial_hyperplasia,focal_epithelial_hyperplasia,,D017573,36949004|6121001,,,, 4227,pyoderma_gangrenosum,pyoderma_gangrenosum,686.01,D017511,74578003,L88,D017511,L88,74578003 4228,eumycotic_mycetoma,eumycotic_mycetoma,,D008271,187497002|410039003,B47.0,,, 4229,vallecula_cancer,,146.3,,94132005|363395000,C10.0,,, 4230,pulmonary_coin_lesion,,,D003074,207405001|158600006|308689002,,,, 4231,wolffian_duct_adenocarcinoma,,,,,,,, 4232,jaccouds_syndrome,,714.4,,84801008|123247007,,,, 4233,preretinal_fibrosis,,362.56,,53428005|367649002|55991001,,,, 4234,hemangioma_of_subcutaneous_tissue,,,,254823000|93473009|189195009,,,, 4235,lown_ganong_levine_syndrome,lown-ganong-levine_syndrome,426.81,D008151,55475008,,,, 4236,sezarys_disease,,202.2,D012751,188638002|188629004|4950009|118611004,,D012751,C84.1,118611004|4950009 4237,periventricular_leukomalacia,periventricular_leukomalacia,779.7,D007969,230769007,,D007969,,230769007 4238,malignant_hyperthermia,malignant_hyperthermia,995.86,D008305,248453001|111738008|269435009|157762007|213026003|405500008|405501007,T88.3,,, 4239,hodgkins_lymphoma_lymphocytic_histiocytic_predominance,,201.4,D006689,189988001|59668005|188553001|118607005|128799007|188563009,C81.4,,, 4240,chronic_fatigue_syndrome,chronic_fatigue_syndrome,780.71,D015673,192735003|193054000|51771007|52702003|271798008|155062000|154991009|267684004|154989001|247372003|267683005,G93.3,,, 4241,cutaneous_leiomyosarcoma,,,,254771006,,,, 4242,small_intestine_leiomyosarcoma,,,,,,,C17, 4243,hodgkins_lymphoma_lymphocytic_depletion,,201.7,D006689,188584004|112687003|134177009|188594009|118610003,C81.3,,C81.3, 4244,esophagus_leiomyosarcoma,,,,,,,, 4245,measles,,055,D008457,154338006|14189004,B05|B05.4|B05.8|B05.9,,, 4246,gallbladder_leiomyosarcoma,,,,,,,, 4247,persistent_fetal_circulation_syndrome,persistent_fetal_circulation,747.83,D010547,206597007|35604006|233815004|204507004,P29.3,,, 4248,kaposis_sarcoma,,176.9|176,D012514|C538559,255115008|190112000|188775002|109386008|109390005|109391009|154604006|109385007|255114007|188483007|109388009|188144002|188029000|49937004|109387004,C46|C46.0|C46.1|C46.2|C46.3,D012514,C46,109385007|49937004 4249,uvula_cancer,,145.4,,363389001|94129007,C05.2,,, 4250,acute_sphenoidal_sinusitis,,461.3,,77919000|266378004|155501004,J01.3,,, 4251,gastric_leiomyosarcoma,,,,,,,, 4252,prostate_leiomyosarcoma,,,,,,,, 4253,kidney_leiomyosarcoma,,,,,,,, 4254,larynx_leiomyosarcoma,,,,,,,, 4255,prostate_carcinoma_in_situ,,233.4,,92691004|128640002,D07.5,,, 4256,chronic_intestinal_vascular_insufficiency,,557.1,C537347,241154007|111354009|266448009|197005008|197008005,,,, 4257,retroperitoneal_leiomyosarcoma,,,,,,,, 4258,vagina_leiomyosarcoma,,,,,,,, 4259,vulvar_leiomyosarcoma,,,,,,,, 4260,breast_leiomyosarcoma,,,,,,,, 4261,balanoposthitis,balanoposthitis,607.1,,46090001|198020004|198024008,N48.1,,, 4262,upper_lip_cancer,,140.3,,187606005|187607001|363372009|421249001|187601000|187602007|94137004|187611007|187600004|187610008|93837005|187609003,,,, 4263,louse_borne_relapsing_fever,,087.0,,14683004,A68.0,,, 4264,tick_borne_relapsing_fever,,087.1,,186821005|10301003,A68.1,,, 4265,peripheral_degeneration_of_cornea,,371.48,,89182000,,,, 4266,mechanical_lagophthalmos,,374.22,,193939008|21783006,,,, 4267,cicatricial_lagophthalmos,,374.23,,193940005|9042000,,,, 4268,cholesterol_ester_storage_disease,cholesterol_ester_storage_disease,,D015217,57218003,,D015223,E75.5,238074007|82500001 4269,upper_gum_cancer,,143.0,,363383000|94114005,C03.0,,, 4270,colon_leiomyosarcoma,,,,,,,, 4271,niemann_pick_disease,,,D052537|D052536|D009542,58459009|66751000,,D052556|D052537|D052536,E75.2,66751000|39390005|52165006|73399005 4272,granular_cell_leiomyosarcoma,,,,,,,, 4273,herpetic_whitlow,herpetic_whitlow,054.6,,43891009,,,, 4274,inflammatory_leiomyosarcoma,,,,,,,, 4275,central_nervous_system_leiomyosarcoma,,,,,,,, 4276,conventional_leiomyosarcoma,,,,,,,, 4277,peyronies_disease,peyronies_disease,607.85,D010411,198028006|155931002|1335005,N48.6,,, 4278,renal_osteodystrophy,renal_osteodystrophy,588.0,D012080,197668007|16726004|155858005|266617009,N25.0,,, 4279,candidal_paronychia,candidal_paronychia,112.3,,187018002|187014000,B37.2,,, 4280,traumatic_glaucoma,,365.65,,68241007,,,, 4281,anus_leiomyosarcoma,,,,,,,, 4282,myxoid_leiomyosarcoma,,,D007890,16090008|189792003,,,, 4283,heart_leiomyosarcoma,,,,,,,, 4284,epithelioid_leiomyosarcoma,,,D007890,42392001,,,, 4285,corpus_luteum_cyst,corpus_luteum_cyst,620.1,,,N83.1,,, 4286,ovary_leiomyosarcoma,,,,,,,, 4287,lung_leiomyosarcoma,,,,,,,, 4288,reye_syndrome,reyes_syndrome,331.81,D012202,154998003|74351001|267688001,G93.7,D012202,G93.7,74351001 4289,senile_degeneration_of_brain,,331.2,,154996004|154995000|45864009|192804001|267687006,G31.1,,, 4290,ovarian_endometrioid_cystadenofibroma,,,,,,,, 4291,sjogren_larsson_syndrome,sjogren-larsson_syndrome,,D016111,205549003|111303009,,D016111,E71.3,111303009 4292,fucosidosis,fucosidosis,,D005645,64716005|190937009,,D005645,E77.1,64716005 4293,atrophy_of_testis,,608.3,,17585008|155938008|249242001,N50.0,,, 4294,spermatic_cord_torsion,spermatic_cord_torsion,608.20|608.2,D013086,198046000|155937003|81996005|49198006|198045001|198048004,N44,,, 4295,external_pathological_resorption,,521.42,,,,,, 4296,spermatocele,spermatocele,608.1,D013088,155936007|43077002|49263001|155941004,N43.4,,, 4297,carotid_stenosis,carotid_stenosis,,D016893,195181000|64586002,,,, 4298,subclavian_steal_syndrome,subclavian_steal_syndrome,435.2,D013349,15258001|300921000,,,, 4299,malignant_cardiac_peripheral_nerve_sheath_neoplasm,,,,,,,, 4300,intra_abdominal_lymph_node_mast_cell_malignancy,,202.63,,188664008,,,, 4301,vertebrobasilar_insufficiency,vertebrobasilar_insufficiency,435.3,D014715,195196001|64009001|155404005|195199008|266314007|394517009,G45.0,,, 4302,cutaneous_anthrax,,022.0,C531621,84980006,A22.0,,, 4303,hypertrophic_cardiomyopathy,hypertrophic_cardiomyopathy,425.1,D002312,266301006|389999002|15471000|389998005|45227007|233873004|155351008,I42.1,,, 4304,conjunctival_concretion,conjunctival_concretion,372.54,,13706005,,,, 4305,wagr_syndrome,wagr_syndrome,,D017624,4135001,,C538295|D017624,Q87.8, 4306,pineal_region_germinoma,,,,,,,, 4307,prader_willi_syndrome,prader-willi_syndrome,759.81,D011218,205794007|89392001,,D011218,Q87.1,89392001 4308,childhood_brain_germinoma,,,,,,,, 4309,familial_hypertrophic_cardiomyopathy,,,D024741,,,,, 4310,ulceroglandular_tularemia,,021.0,,37722001,,,, 4311,sphenoid_sinus_squamous_cell_carcinoma,,,,,,,, 4312,coloboma_of_optic_nerve,coloboma_of_optic_nerve,377.23,C535970,155191004|17541006|267744000,,,Q14.2, 4313,endometrial_clear_cell_adenocarcinoma,,,,,,,, 4314,partial_arterial_retinal_occlusion,,362.33,,193376004|776009,,,, 4315,argyll_robertson_pupil,argyll_robertson_pupil,379.45,,21011008,,,, 4316,osteopoikilosis,osteopoikilosis,756.53,D010023,9147009,,,, 4317,steroid_induced_glaucoma_borderline,,365.03,,302895007|193535007,,,, 4318,lobomycosis,lobomycosis,116.2,,47306003|240749000,B48.0,,, 4319,root_resorption,root_resorption,,D012391,,,,, 4320,retinopathy_of_prematurity,retinopathy_of_prematurity,362.20|362.21,D012178,415297005|155110004|74277007,H35.1,,, 4321,foster_kennedy_syndrome,,377.04,D009901,87764000,,,, 4322,transient_global_amnesia,transient_global_amnesia,437.7,D020236,230736007|195202003|366963000|367187006,G45.4,,, 4323,morbid_obesity,,278.01,D009767,238136002|389986000|190967003,,,, 4324,rectum_leiomyosarcoma,,,,,,,, 4325,liver_leiomyosarcoma,,,,,,,, 4326,extrahepatic_bile_duct_leiomyosarcoma,,,,,,,, 4327,colonic_l_cell_glucagon_like_peptide_producing_tumor,,,,,,,, 4328,nijmegen_breakage_syndrome,nijmegen_breakage_syndrome,,D049932,234638009,,C531759|D049932,,234638009 4329,mediastinum_leiomyosarcoma,,,,,,,, 4330,malignant_cardiac_germ_cell_tumor,,,,,,,, 4331,postmenopausal_atrophic_vaginitis,atrophic_vaginitis,627.3,,156054004|52441000,N95.2,,, 4332,vulvar_non_keratinizing_squamous_cell_carcinoma,,,,,,,, 4333,vulvar_keratoacanthoma_like_carcinoma,,,,,,,, 4334,l_cell_glucagon_like_peptide_producing_tumor,,,,,,,, 4335,rete_testis_adenocarcinoma,,,,,,,, 4336,shipyard_eye,,077.1,,60548004,,,, 4337,seminal_vesicle_adenocarcinoma,,,,,,,, 4338,polymyalgia_rheumatica,polymyalgia_rheumatica,725,D011111,202834009|156656001|267988003|65323003,M35.3,,, 4339,bartholins_duct_cyst,,616.2,,155982004|57044006|27978000,N75.0,,, 4340,biotinidase_deficiency,biotinidase_deficiency,,D028921|C531633,124513002|8808004,,,E53.8, 4341,holocarboxylase_synthetase_deficiency,holocarboxylase_synthetase_deficiency,,D028922,360367001|360369003|15307001|237956003,,,E53.8, 4342,acute_pericementitis,,523.3|523.33,,21638000|196364007|155646007|196361004|196362006,K05.2,,, 4343,klippel_feil_syndrome,klippel-feil_syndrome,756.16,D007714,388981000|5601008|157003009|129581007|205441002|268349005,M50.9,,, 4344,stable_condition_keratoconus,,371.61,,75253008|193844000,,,, 4345,tibial_adamantinoma,,,,313417009|56763007|210233007|189895006|281702006,,,, 4346,maxillary_sinus_cholesteatoma,,,,,,,, 4347,diplegia_of_upper_limb,,344.2,,192968004|54099005,G83.0,,, 4348,primary_pulmonary_hypertension,pulmonary_hypertension,416.0,C536282|D006976,26174007|266293003|155328008|70995007,I27.0,,I27.0, 4349,anaerobic_meningitis,,320.81,,,,,, 4350,adult_malignant_hemangiopericytoma,,,,,,,, 4351,vulvar_eccrine_adenocarcinoma,,,,,,,, 4352,cerebellopontine_angle_meningioma,,,,126948004,,,, 4353,anterior_optic_tract_meningioma,,,,,,,, 4354,adult_intracranial_malignant_hemangiopericytoma,,,,,,,, 4355,creutzfeldt_jakob_syndrome,creutzfeldt-jakob_syndrome,046.1,D007562,792004|79358009|155061007,A81.0,D007562,A81.0,792004 4356,ectopic_thymus,ectopic_thymus,,,,,,, 4357,bilateral_meningioma_of_optic_nerve,,,,,,,, 4358,cork_handlers_disease,,495.3|513.0,D008171|D008169,13394002|196113000|155618005|73452002,J60-J70|J67.3|J85.1|J85.2|J98.4,,, 4359,rheumatoid_lung_disease,rheumatoid_lung_disease,714.81,,196132006|201794001|155621007|111280008|398726004|201813004,J99.0|M05.1,,, 4360,cyclothymic_disorder,cyclothymic_disorder,301.13|301.10|301.1,D003527,386798001|192383002|191754000|76105009|191752001|191751008|286737005|191755004|268756002|14697007,F34.0,,, 4361,ovarian_solid_teratoma,,,,,,,, 4362,ovarian_fetiform_teratoma,,,,,,,, 4363,clivus_chondroid_chordoma,,,,,,,, 4364,choledochal_cyst,choledochal_cysts,,D015529,398197009|30533003,Q44.4,,, 4365,bartholins_gland_adenocarcinoma,,,,,,,, 4366,patellar_tendinitis,patellar_tendinitis,726.64,,156662006|268089006|37785001,M76.5,,, 4367,pseudopseudohypoparathyroidism,pseudopseudohypoparathyroidism,,D011556,190867002|237659007|8084001,,D011556,E20.1,237659007 4368,polycystic_kidney_disease,polycystic_kidney_disease,,D016767,111331000,,C531647|D016767,Q44.6,111331000 4369,hydrops_of_gallbladder,,575.3,,197421008|47312008,K82.1,,, 4370,gastroparesis,gastroparesis,536.3,D018589,196753007|235675006|77164002,,,, 4371,proliferative_vitreoretinopathy,proliferative_vitreoretinopathy,,D018630,232016005|193364004,,,, 4372,mutism,mutism,,D009155,267771000|88052002,,,, 4373,echolalia,echolalia,,D004454,64712007,,,, 4374,articulation_disorder,,,D001184,386701004|229719002|8187005,,,, 4375,tinea_cruris,tinea_cruris,110.3,,186992007|59089002|186989008|266150008,B35.6,,, 4376,idiopathic_familial_dystonia,,,D020821,192852006|230318005,G24.1,,, 4377,dentin_caries,,521.02,,50047001|44828002|442551007,,,, 4378,idiopathic_non_familial_dystonia,,,,230321007,G24.2,,, 4379,occlusion_of_gallbladder,,575.2,,197416005|197415009|75726005|197420009,K82.0,,, 4380,nasopharyngitis,nasopharyngitis,,D009304,47841006|155524006|51476001,J31.1,,, 4381,ecthyma,ecthyma,,D004473,85791004,,,, 4382,femoral_neuropathy,femoral_neuropathy,,D020428,193146000|25690000,G57.2,,, 4383,ophthalmia_nodosa,ophthalmia_nodosa,360.14,,12371008,,,, 4384,tonsillitis,tonsillitis,,D014069,195665006|90176007|155530006|195794009|90979004,J35.0,,, 4385,vitreous_detachment,vitreous_detachment,,D020255,267747007|53772007|155202007|393583008,,,, 4386,common_cold,common_cold,460,D003139,155497009|82272006|232342002|195648002|232341009|54150009|266377009,J00,,, 4387,legionnaires_disease,legionnaires_disease,482.84,D007877,74881002|312403005|269574000|266186009|154315008|195889001,A48.1,,, 4388,vitreous_abscess,,360.04,,48142003,,,, 4389,differentiating_neuroblastoma,,,,,,,, 4390,cerebral_neuroblastoma,,,,281560004,,,, 4391,pyomyositis,pyomyositis,040.81,D052880,186430009|65110003,,D052880,M60.0,65110003 4392,anaerobic_pneumonia,,482.81,,,,,, 4393,ring_corneal_ulcer,,370.02,,193760005|111520007,,,, 4394,perforated_corneal_ulcer,,370.06,,46606001,,,, 4395,heterophyiasis,,121.6,,187126008|22905009,,,, 4396,metagonimiasis,metagonimiasis,121.5,D014201,37832003,,,, 4397,fascioliasis,fascioliasis,121.3,D005211,187125007|111922007,B66.3,,, 4398,hypopyon_ulcer,,370.04,,267633000|193762002|6395007,,,, 4399,mycotic_corneal_ulcer,,370.05,,397977001|59939007,,,, 4400,fasciolopsiasis,fasciolopsiasis,121.4,D014201,54266002,B66.5,,, 4401,rh_isoimmunization,rh_isoimmunization,,D012203,199581000|199584008|199580004|44795003|156182009,,,, 4402,marginal_corneal_ulcer,,370.01,,47398006,,,, 4403,rosacea_conjunctivitis,,372.31,,10128002,,,, 4404,xanthogranulomatous_cholecystitis,,,C536762,,,,, 4405,myocardial_stunning,myocardial_stunning,,D017682,,,,, 4406,moorens_ulcer,,370.07,,22440001,,,, 4407,wilson_disease,wilsons_disease,,D006527,191710006|154751003|267504005|192640001|190823004|88518009,,,E83.0,88518009 4408,purulent_acute_otitis_media,,382.02,,,H66.0,,, 4409,dentinogenesis_imperfecta,dentinogenesis_imperfecta,,D003811,196286005|45742009|367461002,,D003811,K00.5,196286005 4410,heart_aneurysm,heart_aneurysm,,D006322,155317009|65340007|194847002,I25.3,,, 4411,orbital_granuloma,,376.11,,194008000|72776003,,,, 4412,emphysematous_cholecystitis,,,D041882,95558008,,,, 4413,primary_syphilis,,091,,57334003|186846005,A50.2|A51.9,,, 4414,spinal_chordoma,,,,,,,, 4415,secondary_syphilis,,091.9,C536773,186865002|240557004|154382002,M89|M89.8,,, 4416,gastrointestinal_adenoma,,,,,,,, 4417,ganglion_or_cyst_of_synovium_tendon_bursa,,727.49,,,,,, 4418,internal_hemorrhoid,,455.6,,82985000,,,, 4419,biliary_dyskinesia,biliary_dyskinesia,,D001657,197432008|43469007,,,, 4420,intraorbital_meningioma,,,D008579,,,,, 4421,perianal_hematoma,perianal_hematoma,455.4,,26373009|269372002|157525008|155474006|211490002,I84.3,,, 4422,myxosarcoma,myxosarcoma,,D009236,28351005,,,, 4423,type_1_diabetes_mellitus,,,D003922,154673001|190322003|267469001|190362004|46635009,E10|E10.0|E10.1|E10.2|E10.3|E10.4|E10.5|E10.6|E10.7|E10.8|E10.9,,, 4424,intestinal_atresia,intestinal_atresia,,D007409,,,,, 4425,postcholecystectomy_syndrome,postcholecystectomy_syndrome,576.0,D017562,90782003,K91.5,,, 4426,esophageal_atresia,esophageal_atresia,,D004933,156947007|204656005|26179002,,D004933,Q39.0|Q39.1,204656005|26179002 4427,erythrasma,erythrasma,,D004894,111797001|238418005|186393009|154314007|266185008|200726000,L08.1,,, 4428,bone_localized_ewings_sarcoma,,,,,,,, 4429,diaphragmatic_eventration,diaphragmatic_eventration,,D003965,34168003|157006001|268351009,,,, 4430,hirschsprungs_disease,,,D006627,156957008|367495003|6687001|204738000|204742002|204744001|360436002|204739008,Q43.1,,, 4431,imperforate_anus,imperforate_anus,,D001006,204731006|156956004|204733009|204712000|14118000,,,, 4432,acute_allergic_mucoid_otitis_media,,381.05,,8326008|194242003,,,, 4433,renal_tuberculosis,,016.00|016.0,D014398,44323002|186236001,,,, 4434,childhood_brainstem_astrocytoma,,,,,,,, 4435,vaginal_adenosarcoma,,,,,,,, 4436,diffuse_meningeal_melanocytosis,,,,128729004,,,, 4437,ovarian_mesodermal_adenosarcoma,,,,,,,, 4438,anterior_foramen_magnum_meningioma,,,,,,,, 4439,adult_brain_medulloblastoma,,,,,,,, 4440,colon_neuroendocrine_neoplasm,,,,,,,, 4441,intestinal_neuroendocrine_tumor,,,,,,,, 4442,uterine_corpus_adenosarcoma,,,,,,,, 4443,cervical_adenosarcoma,,,,,,,, 4444,hypersplenism,hypersplenism,289.4,D006971,154839008|58381000|267570002,D73.1,,, 4445,ureter_tuberculosis,,016.2,,81359005,,,, 4446,hepatic_osteogenic_sarcoma,,,,,,,, 4447,acral_lentiginous_melanoma,acral_lentiginous_melanoma,,,,,,, 4448,septic_arthritis,septic_arthritis,711.9|711.90,D001170,48548006|83486002|201599009|196415003|201596002|201623005|201595003|428437005|201593005|371412008|201591007|201597006|201598001|396234004|201455003|239776008|201594004|201592000,,,, 4449,toxocariasis,toxocariasis,,D007816,87121004,B83.0,D014120,B83.0,406619001 4450,interstitial_myocarditis,,,,37925008,,,, 4451,myositis_fibrosa,,728.81,,55925001,M60.1,,, 4452,hemarthrosis,hemarthrosis,719.1|719.10,D006395,81808003|202422006|156581006|156591000|202394001,,,, 4453,bulbar_polio,bulbar_polio,045.0,D011052,186475007|64764001|398327006|54839009,,,, 4454,melanocytic_psammomatous_mpnst,,,,,,,, 4455,carotid_artery_occlusion,,433.10,,,I65.2,,, 4456,cocaine_abuse,,305.60|305.6,D019970,78267003,,,, 4457,trichinosis,trichinosis,124,D014235,88264003|266222003|154415009,B75,D014235,B75,88264003 4458,senile_atrophy_of_choroid,,363.41,,38513001,,,, 4459,diastolic_heart_failure,diastolic_heart_failure,428.30|428.3,D054144,418304008,,,, 4460,irritable_bowel_syndrome,irritable_bowel_syndrome,564.1,D043183,192434000|155783000|10743008|197124009|266525002,K58|K58.0|K58.9,,, 4461,fructose_16_bisphosphatase_deficiency,,,D015319,28183005,,,, 4462,benign_struma_ovarii,,,,,,,, 4463,malignant_struma_ovarii,,,,18854008,,,, 4464,large_cell_keratinizing_variant_squamous_cell_breast_carcinoma,,,,,,,, 4465,childhood_pleomorphic_rhabdomyosarcoma,,,,,,,, 4466,spindle_cell_variant_squamous_cell_breast_carcinoma,,,,,,,, 4467,female_breast_upper_outer_quadrant_cancer,,174.4,,188154003,,,, 4468,transient_neonatal_thrombocytopenia,,776.1,,206514004|23205009,P61.0,,, 4469,chronic_nk_cell_lymphocytosis,,,,,,,, 4470,hypogonadotropism,,,,,,,, 4471,mycosis_fungoides,mycosis_fungoides,202.1,D009182,188618003|188628007|190003004|190004005|90120004|118618005,,,, 4472,subacute_monocytic_leukemia,,206.2,,12834001|188746008|154596007|95276000|190059009,,,, 4473,monoclonal_gammopathy_of_uncertain_significance,monoclonal_gammopathy_of_uncertain_significance,,,,D47.2,,, 4474,chronic_metabolic_polyneuropathy,,,,,,,, 4475,acantholytic_variant_squamous_cell_breast_carcinoma,,,,,,,, 4476,enterobiasis,enterobiasis,,D010123,19722001|266162007|154415009|266222003|187178006,B80,,, 4477,childhood_germ_cell_brain_tumor,,,,,,,, 4478,diffuse_intraductal_papillomatosis,,,,32296002,,,, 4479,alcoholic_gastritis,,535.3,,2043009|155714000,K29.2,,, 4480,paraneoplastic_polyneuropathy,,357.3,D020364,77659000,,,, 4481,myeloid_sarcoma,myeloid_sarcoma,205.3,D023981,188739004|35287006|94719007|188737002|188738007,C92.3,D023981,C92.3,35287006|94719007 4482,tonsillar_pillar_cancer,,146.2,,187679004|94103007|187675005|187676006,C09.1,,, 4483,skin_carcinoma_in_situ,,232|232.9,,189282005|189278008|92749008|189290005|189295000|92735004|189276007|255144005|190181002|190179004|92734000|92747005|189294001|189291009|189334002,D04|D04.0|D04.2|D04.4|D04.6|D04.7,,, 4484,polyvesicular_vitelline_pattern_testicular_yolk_sac_tumor,,,,,,,, 4485,ovarian_clear_cell_cystadenocarcinoma,,,,,,,, 4486,polyp_of_middle_ear,,,,155244001|267766007|73103007,H74.4,,, 4487,sarcomatoid_uterine_corpus_endometrioid_adenocarcinoma,,,,,,,, 4488,uterus_perivascular_epithelioid_cell_tumor,,,,,,,, 4489,anorexia_nervosa,,307.1,D000856,192445002|154926005|56882008,F50.0,,, 4490,retinal_hemangioblastoma,,,,,,,, 4491,hilar_cholangiocellular_carcinoma,,,,,,,, 4492,perinatal_necrotizing_enterocolitis,,,D020345,397729009|2707005|51180003,P77,,, 4493,postcricoid_region_cancer,,148.0,,363400004|93967000,C13.0,,, 4494,lymphosarcoma,lymphosarcoma,200.1,D008228,115244002|189964003|188508003|188498009|134218000|67824002|154580009|1929004,,,, 4495,lip_carcinoma_in_situ,,230.0,,189210009|271325000|189213006,C00,,, 4496,subungual_glomus_tumor,,,,403973004,,,, 4497,hepatoerythropoietic_porphyria,hepatoerythropoietic_porphyria,,D017121,,,,, 4498,vulvar_proximal_type_epithelioid_sarcoma,,,,,,,, 4499,aryepiglottic_fold_cancer,,148.2,,187708004|93829002,C13.1,,, 4500,glomangiosarcoma,glomangiosarcoma,,,128908003|13875003,,,, 4501,aortic_valve_prolapse,,,D001023,,,,, 4502,cervical_keratinizing_squamous_cell_carcinoma,,,,,,,, 4503,hodgkins_granuloma,,201.1,D006689,188533000|188542007|74189002|118602004,,,, 4504,petrous_apex_meningioma,,,,,,,, 4505,2_hydroxyglutaric_aciduria,,,,,,,, 4506,abdominal_tuberculosis,,,,,,,, 4507,abnormal_pupillary_function,,379.49,,,H57.0|H58.0,,, 4508,acanthoma,acanthoma,,D049309,,,,, 4509,achondrogenesis,achondrogenesis,,,,Q77.0,,Q77.0,2391001 4510,acne,acne,,,11381005|201408008|201229002,L70|L70.9,,, 4511,acquired_metabolic_disease,,,,,D59.9|D60.9|M20.6|M21.9|M95.9|Z89.9,,, 4512,acquired_polycythemia,,289.0,,191374009|44865000|154835002,D75.1,,, 4513,acrocephalosyndactylia,acrocephalosyndactylia,755.55,D000168,205257004|268262006|63661009,,D000168,Q87.0,205258009 4514,acromesomelic_dysplasia,,,,,,,, 4515,acute_cervicitis,,,,19272000,,,, 4516,acute_conjunctivitis,,372.03,,,,,, 4517,acute_cystitis,acute_cystitis,595.0,,68226007|197833009|155883005|266628008,N30.0,,, 4518,acute_endometritis,,,,67667007|155976002,,,, 4519,acute_inflammation_of_lacrimal_passage,,375.3,,193986007|302900006|267652006,H04.3,,, 4520,acute_kidney_failure,acute_kidney_failure,,,,,,, 4521,acute_laryngitis,,464.0,,195690008|6655004|155506009|408669002,J04.0,,, 4522,acute_leukemia,acute_leukemia,208.0,,154599000|24072005|188763007|91855006,,,, 4523,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,204.0,,128822004|154588002|190034000|90151006|91857003,,,C91.0, 4524,acute_myocardial_infarction,,410.90|410|410.9,,155304006|57054005|266288001|194796000|194811003,I21,,, 4525,acute_myocarditis,,422|422.90,,155336004|194961006|46701001|194953001|195569005,I40,,, 4526,acute_orbital_inflammation,,376.00|376.0,,194006001|194004003|20551005,A19.2|A80.9|B17.9|F23.9|G36.9|H05.0|H10.3|I01.9|I21.9|I24.9|I30.9|I33.9|I40.9|J01.9|J02.9|J03.9|J06.9|J20.9|J21.9|K85.9|L04.9|L56.9|N17.9|U04.9,,, 4527,acute_porphyria,,,D017094,55056006,,,, 4528,acute_proliferative_glomerulonephritis,acute_proliferative_glomerulonephritis,580.0,,197579006,,,, 4529,acute_pulmonary_heart_disease,,415,,194880009|67189007|194884000|155324005,,,, 4530,acute_salpingitis,,,,8912009,,,, 4531,acute_sanguinous_otitis_media,,381.03,,77478005,,,, 4532,acute_serous_otitis_media,,381.01,,11957006|194240006,H65.0,,, 4533,acute_stress_disorder,acute_stress_disorder,308.3,,192040000|192043003,,,, 4534,adenocarcinoma,adenocarcinoma,,D000230,189582009|443961001|189578007|35917007,,,, 4535,adenofibroma,,,D000232,2962009|189823009,,,, 4536,adenoma,adenoma,,D000236,189578007|189579004|79041005|32048006|443416007,,,, 4537,adenomyoma_of_uterine_corpus,,,,,,,, 4538,adenosarcoma,adenosarcoma,,D018195,189804002|31470003,,,, 4539,adolescence_adult_electroclinical_syndrome,,,,,,,, 4540,adrenal_adenoma,adrenal_adenoma,,,,,C538238,D35.0,127021009 4541,adrenal_cortex_disease,,,D000303,129636003,,,, 4542,adrenal_cortical_hypofunction,,255.4,,68588005|386584007|190527008|154707007|267398003|267483004,,,, 4543,adrenal_gland_disease,,255.9|255,D000307,154704000|190532009|30171000,E27|E27.8,,, 4544,adrenal_gland_hyperfunction,adrenal_gland_hyperfunction,,D000308,190520005|111561007|47270006|275437005,,,, 4545,adrenocortical_carcinoma,adrenocortical_carcinoma,,D018268,255035007|2227007,C74.0,D018268,C74.0|E24.8,2227007 4546,adult_acute_lymphocytic_leukemia,,,,,,,, 4547,adult_astrocytic_tumour,,,,,,,, 4548,adult_brain_stem_glioma,,,,,,,, 4549,adult_central_nervous_system_teratoma,,,,,,,, 4550,adult_pineal_parenchymal_tumor,,,,,,,, 4551,adult_teratoma,,,,42717009,,,, 4552,agammaglobulinemia,agammaglobulinemia,,D000361,190978006|190977001|119250001|267512002|81282009|119249001,,,C88.2,61493004 4553,agnosia,agnosia,,D000377,42341009|206989009|158320000,R48.1,,, 4554,alcohol_induced_mental_disorder,,291.89|291.8,,,,,, 4555,aleukemic_leukemia_cutis,,,,,,,, 4556,allergic_conjunctivitis,allergic_conjunctivitis,,D003233,155168003|20212001|231854006|193868008,,,, 4557,allergic_contact_dermatitis,allergic_contact_dermatitis,,D017449,200841005|238575004,,,, 4558,alopecia,alopecia,704.00|704.0,D000505,156408004|267810004|201130000|56317004|201129005|201157003|278040002|270504008,,,, 4559,alopecia_areata,alopecia_areata,704.01,D000506|C531609,201131001|68225006|238727007,L63,,, 4560,amblyopia,amblyopia,368.00,D000550,111517004|155145007|387742006|193637007|267627009|267726008,,,, 4561,amino_acid_metabolic_disorder,,270.9|270,D000592,267496003|190740001|190680002|42930003|154734005|44779003,,,, 4562,amnestic_disorder,amnestic,,D000647,3298001|247606008|48167000|78461004|386807006|162199006,,,, 4563,ampulla_of_vater_adenocarcinoma,,,,,,,, 4564,ampulla_of_vater_carcinoma,,,,254609000,C24.1,,C24.1, 4565,amyloidosis,amyloidosis,277.3|277.30,D000686,154769007|17602002|190931005,,,, 4566,amyotrophic_lateral_sclerosis,amyotrophic_lateral_sclerosis,335.20,D000690,86044005,F02|F03|F00.9,,, 4567,anal_canal_adenocarcinoma,,,,,,,, 4568,anal_margin_carcinoma,,,,255084004,,,, 4569,anal_squamous_cell_carcinoma,,,,255084004,,,, 4570,anemia,anemia,285.9|281.9,D000740,154786001|154812000|271737000|267531008|64593003|191277004|191168000|267513007|191125001,,,, 4571,aneurysm_disease,aneurysm,442.9,D000783,155425005|362727005|85659009|155428007|432119003|195292009|134342004,,,, 4572,angioedema,angioedema,,D000799,41291007|269433002|400075008|157756002|82966003,T78.3,,, 4573,angiokeratoma,angiokeratoma,,D000794,26810009|254788004,,,, 4574,angiolipoma,angiolipoma,,D018206,404057003|189780003|73219006,,,, 4575,angiomyolipoma,angiomyolipoma,,D018207,19929002,,,, 4576,angiomyoma,,,D018229,86959002,,,, 4577,angiosarcoma,angiosarcoma,,D006394,39000009|403977003|33176006,,,, 4578,anterior_cranial_fossa_meningioma,,,,,,,, 4579,anterior_scleritis,,379.03,,63454000,,,, 4580,anthrax_disease,anthrax,022.9|022,D000881,409498004|17540007|187302001|186304006|154295005,A22|A22.9,,, 4581,anus_adenocarcinoma,,,,423607006,,,, 4582,anus_cancer,cancer_of_the_anus,154.2,,363490009|187762000|187764004|93676009|363352004|93669004,,,, 4583,anus_disease,anus,,D001004,32110003,K60.2,,, 4584,anus_neoplasm,anus_neoplasms,,D001005,126849006,,,, 4585,anus_sarcoma,,,,,,,, 4586,anxiety_disorder,anxiety_disorder,,D001008,191703000|192405006|197480006|65673007,F41.8|F41.9,,, 4587,aortic_aneurysm,aortic_aneurysm,,D001014,155419006|67362008|155424009|195269009,,,, 4588,aortic_disease,aortic_diseases,,D001018,47040006,I35.9,,, 4589,aortic_valve_insufficiency,aortic_insufficiency,,D001022,60234000,I35.1,,, 4590,aortic_valve_stenosis,aortic_valve_stenosis,,D001024,60573004|390722003,I35.0|I35.2,,, 4591,aphasia,aphasia,,,,,,, 4592,aplastic_anemia,aplastic_anemia,284.9,D000741,306058006|267560004|79000000|154807001|191258001|191233006|305047005|304132006,D61.2|D61.3|D61.8,D054990|C538494,J84.1|D61.0,191256002 4593,apocrine_adenocarcinoma,,,,57141000,,,, 4594,apocrine_sweat_gland_neoplasm,,,,,,,, 4595,appendix_adenocarcinoma,,,,413445002,,,, 4596,appendix_cancer,appendix_cancer,153.5,D001063,93679002|363411007,C18.1,,, 4597,arterial_occlusive_disease,arterial_occlusive_disease,,D001157,2929001,,,, 4598,arteriosclerosis,arteriosclerosis,,D001161,107671003|195257001|155418003|155414001|195251000|266318005|72092001|28960008,,,, 4599,arthritis,arthritis,,D001168,3723001|372091005|202059001|363178003,M13.8|M13.9,,, 4600,arthropathy,arthropathy,716.90|719.90|716.9|719.9,D007592,156514009|196415003|268070006|201455003|227588009|202073005|8316001|268056006|203747002|396275006|203721006|83486002|268051001|202634006|202061005|267888004|371412008|396233005|48548006|202059001|156616003|267904003|202647001|80843008|202645009|202635007|156508002|363162000|399269003,M00-M03|M14,,, 4601,ascending_colon_cancer,,153.6,,269539001|93683002|363412000|154460005,C18.2,,, 4602,aspergillosis,aspergillosis,117.3,D001228,187492008|187087004|266218008|154408001|65553006,B44|B44.9,D001228,B44,65553006 4603,aspiration_pneumonia,aspiration_pneumonia,,D011015,422588002|47839005,,,, 4604,aspiration_pneumonitis,aspiration_pneumonitis,,D011015,422588002|47839005,J95.4|O74.0,,, 4605,asthma,asthma,493|493.9,D001249,266398009|278517007|195967001|187687003|21341004|155574008|266365004|195983001|155579003|195979001,J45|J45.9,,, 4606,astigmatism,astigmatism,367.2|367.20,D001251,193626006|82649003|155134009|193627002,H52.2,,, 4607,astrocytoma,astrocytoma,,D001254,189914005|38713004|254938000,,,, 4608,atherosclerosis,atherosclerosis,440,D050197,155382007|266318005|38716007|195251000|155414001|194848007,I70,,, 4609,atrial_heart_septal_defect,atrial_septal_defect,,D006344,204316004|70142008|156915002|268178001|69524004|253366007|405752007|253368008,Q21.1,,, 4610,atypical_lipomatous_tumor,atypical_lipomatous_tumor,,,28655007,,,C49,28655007 4611,atypical_polypoid_adenomyoma,,,,40293003|388987001,,,, 4612,auditory_system_cancer,,,D004428,363228008,,,, 4613,auditory_system_disease,,388.9,D004427,194410006|155253008|267768008|25906001|194193002|155261003,H90-H95|H70|H93|H94|H70.9|H93.8|H94.8|M32.9|M34.9|M35.9|R65.9|Y40.9|Y41.9,,, 4614,autism_spectrum_disorder,autism_spectrum,,,,,,, 4615,autoimmune_disease_of_blood,,,,,,,, 4616,autoimmune_disease_of_cardiovascular_system,,,,,,,, 4617,autoimmune_disease_of_endocrine_system,,,,,,,, 4618,autoimmune_disease_of_gastrointestinal_tract,,,,,,,, 4619,autoimmune_disease_of_skin_and_connective_tissue,,,,,,,, 4620,autoimmune_disease_of_the_nervous_system,,,D020274,,,,, 4621,autoimmune_disease_of_urogenital_tract,,,,,,,, 4622,autoimmune_polyendocrine_syndrome,autoimmune_polyendocrine_syndrome,,D016884,190567009|18947001|41864002|190568004,E31.0,,, 4623,autonomic_nervous_system_disease,,337.1,D001342,,G90|G90.8|G99.1,,, 4624,autonomic_nervous_system_neoplasm,,,,,,,, 4625,autonomic_neuropathy,,,,277879009,,,, 4626,autosomal_dominant_disease,,,,,,,, 4627,autosomal_genetic_disease,,,,,D58.9|G11.9|G60.9,,, 4628,autosomal_recessive_disease,,,,,,,, 4629,b_cell_deficiency,,279.03,,190982008,,,D80.8,234539005 4630,b_cell_lymphocytic_neoplasm,,,,413616009,,,, 4631,bacterial_conjunctivitis,,,D003234,128350005|243462001|193877001|17482009|243321006,,,, 4632,bacterial_meningitis,,320.9|320,D016920,192662001|267680008|95883001|154984006,G00,,, 4633,balanitis,balanitis,,D001446,198020004|44882003|198021000|266572002|155928003,N51.2,,, 4634,bartholins_gland_carcinoma,,,,399533005|276876007,,,, 4635,bartholins_gland_neoplasm,,,,,,,, 4636,basal_cell_carcinoma,basal-cell_carcinoma,,D002280,1338007|189573003|269582000|254701007|154507009|189574009|275265005|189572008|399049001|188083002|30649006|252995000|127570002,,,, 4637,basal_ganglia_disease,,,D001480,70835005,,,, 4638,benign_ependymoma,,,D004806,189913004|443643007|57706008|253066003,,,, 4639,benign_mediastinal_neurilemmoma,,,,,,,, 4640,benign_mesothelioma,,,D008654,62064005|189837000|190110008|187873000|154491004,,,, 4641,benign_perivascular_tumor,,,,,,,, 4642,benign_secondary_hypertension,,405.1,,194785008|194787000|44111003,,,, 4643,benign_vaginal_carcinosarcoma,,,,,,,, 4644,bilateral_breast_cancer,,,,,,,, 4645,bile_duct_adenocarcinoma,,,,70179006,,,, 4646,bile_duct_adenoma,,,D002759,424091006|39471001|189591008,,,, 4647,bile_duct_carcinoma,bile_duct_carcinoma,,D001650,70179006,C24.0,,, 4648,bile_duct_cystadenoma,,,,83025009,,,, 4649,bile_duct_disease,,,D001649,197455006|118926004,,,, 4650,bile_duct_rhabdomyosarcoma,,,,,,,, 4651,bile_duct_sarcoma,,,,,,,, 4652,biliary_papillomatosis,,,,128663007,,,, 4653,biliary_tract_disease,,576.9,D001660,155830002|266545005|5235004|266544009|155832005|105997008,K83.8,,, 4654,biliary_tract_neoplasm,,,,126855001,,,, 4655,bilirubin_metabolic_disorder,,,D006932,235904007|20505009|267509000|14783006|154770008,E70-E90|E88.8|E88.9,,, 4656,binocular_vision_disease,binocular_vision,368.30,,83275001|193658001,H53.3,,, 4657,bipolar_disorder,bipolar_disorder,296.80,D001714,154871001|191646009|191627008|192355004|268749008|191644007|68569003|16506000|191636007|192362008|191647000|191654006|13746004|192365005,F31|F30.9|F31.9|F32.9,,, 4658,bladder_adenocarcinoma,,,,255110003,,,, 4659,bladder_benign_neoplasm,,,,,D30.3,,, 4660,bladder_calculus,,,D001744,155879005|197830007|70650003,N21.0,,, 4661,bladder_carcinoma,,188|188.9,D001749,255108000|154540000|269607003|363455001|126885006|188248005|399326009|93689003,C67,,, 4662,bladder_clear_cell_adenocarcinoma,,,,,,,, 4663,bladder_disease,bladder_disease,596.9,D001745,266630005|197897007|155886002|155890000|42643001,N32|N33|N32.8|N32.9|N33.8,,, 4664,bladder_diverticulum,,596.3,,252004007|197866008|21853005|268335001|197869001|156977001|155888001,N32.3,,, 4665,bladder_papillary_transitional_cell_neoplasm,,,,,,,, 4666,bladder_squamous_cell_carcinoma,,,,255111004,,,, 4667,bladder_transitional_cell_carcinoma,,,,393562002|255109008,,,, 4668,bladder_transitional_cell_papilloma,,,,269642004|313414002|45083001|189459005|154620001,,,, 4669,bladder_urachal_carcinoma,,,,,,,, 4670,blepharitis,blepharitis,373.00|373.9|373.0,D001762,193925008|41446000|193909003|193908006|193910008|155170007|155171006|155175002|396712002|193907001,H01.0,,, 4671,blepharoconjunctivitis,blepharoconjunctivitis,372.2|372.20,,68659002|155164001|193873002|193870004,H10.5,,, 4672,blood_coagulation_disease,,286,D001778,191303002|154815003|267562007|127073005|64779008|362970003,O72.3,,, 4673,blood_group_incompatibility,,,D001787,,,,, 4674,blood_platelet_disease,platelet,,D001791,22716005,,,, 4675,blood_protein_disease,,,D001796,,,,, 4676,blue_drum_syndrome,,381.02,,52353000,,,, 4677,bone_benign_neoplasm,,,,,,,, 4678,bone_deterioration_disease,,,,,,,, 4679,bone_ewings_sarcoma,,,,307608006,,,, 4680,bone_giant_cell_tumor,,,D018212,57500000|189891002,,,, 4681,bone_inflammation_disease,,,D010000,274144001|44462005|363172002|156780005,,,, 4682,bone_osteosarcoma,,,,307576001,,,, 4683,bone_remodeling_disease,bone_remodeling,,,,,,, 4684,bone_resorption_disease,,,,,,,, 4685,bone_structure_disease,,,,,,,, 4686,borderline_glaucoma,,365.00,,193532005|359633007|47891005,,,, 4687,botryoid_rhabdomyosarcoma,botryoid_rhabdomyosarcoma,,,14269005|404052009|405943005,,,, 4688,botulism,,,D001906,154276003|414531002|398523009|49248004|266177004|398530003|186110004|398565003,A05.1,D001906,A05.1,398565003|414531002 4689,brachial_plexus_neuropathy,brachial_plexus,,D020516,3548001,G54.0,,, 4690,brain_angioma,,,,,,,, 4691,brain_cancer,,239.6,D001932,188279009|275464006|363356001|254935002|188305001|269610005|126952004|154550004|189537005|93727008|428061005,C71,,, 4692,brain_disease,,,D001927,81308009|76011009|193051008|155053002,,,, 4693,brain_ependymoma,,,,254939008,,,, 4694,brain_germinoma,,,,,,,, 4695,brain_glioma,,,,,,,, 4696,brain_medulloblastoma,,,,,,,, 4697,brain_meningioma,,,,,,,, 4698,brain_stem_glioma,brain_stem_glioma,,,,,,, 4699,brain_stem_infarction,,,D020526,230697005|195191006|95457000|195192004,,,, 4700,brain_stem_neoplasm,,191.7,,363473003|188299003|154549004|93726004|126961004,C71.7,,, 4701,breast_adenocarcinoma,,,,,,,, 4702,breast_adenoma,,,,269640007,,,, 4703,breast_benign_neoplasm,,,,,D24,,, 4704,breast_cancer,breast_cancer,,D001943,269595005|254837009|190121004|126926005|154521006|254838004|154513000|286898006,C50-C50|C50,,, 4705,breast_carcinoma_in_situ,,233.0,,154636004|189336000,D05,,, 4706,breast_cyst,breast_cyst,,D047688,399294002|270538000|56726003,,,, 4707,breast_disease,,610-612.99|611.9,D001941,155946009|198566004|266647006|155962003|155966000|79604008|198129001,,,, 4708,breast_duct_papilloma,,,,254848002,,,, 4709,breast_fibroadenoma,fibroadenoma,,,269640007|189820007|254845004|46212000|254847007|189102001|65877006,,,, 4710,breast_hemangioma,,,,,,,, 4711,breast_intraductal_proliferative_lesion,,,,,,,, 4712,breast_metaplastic_carcinoma,,,,,,,C50, 4713,breast_mucinous_carcinoma,,,,,,,, 4714,breast_myoepithelial_neoplasm,,,,,,,, 4715,breast_myoepitheliosis,,,,,,,, 4716,breast_papillomatosis,,,,,,,, 4717,breast_sarcoma,,,,278050001,,,, 4718,breast_secretory_carcinoma,,,C537535,41919003,,,, 4719,breast_squamous_cell_carcinoma,,,,,,,, 4720,bronchial_disease,bronchial_diseases,,D001982,41427001,,,, 4721,bronchial_neoplasm,,,D001984,126705004,,,, 4722,bronchus_adenoma,,,,24482001|189617001,,,, 4723,brucellosis,brucellosis,023.9|023,C531637|D002006,187304000|111804008|75702008|154296006|186310006,A23|A23.0|A23.1|A23.2|A23.3|A23.9,D002006,A23,75702008 4724,bubonic_plague,bubonic_plague,020.0,D010930,50797007|58750007,A20.0,,, 4725,bullous_skin_disease,,694.8,,200916004,,,, 4726,bursitis,bursitis,,D002062,156686008|156677003|268000007|202935009|84017003,,,, 4727,calcinosis,calcinosis,,D002114,237881004|6595006|18115005|190863003,,,, 4728,calcium_metabolism_disease,,275.4|275.40,D002128,71638002|267442002|190874007|190863003,E83.5,,, 4729,candidiasis,candidiasis,112|112.9,D002177,78048006|187024008|187005005|187478002|154403005,B37|B37.9,,, 4730,capillary_disease,,448,,57223003|195390003|195380006|58729003|155449008|155446001|195250004|266324004,I78,,, 4731,capillary_hemangioma,capillary_hemangioma,,D018324,83343001|56975005|254206003|402867006|205560007,,,, 4732,carbohydrate_metabolic_disorder,,,D002239,,,,, 4733,cardiovascular_organ_benign_neoplasm,,,,,,,, 4734,carotid_artery_disease,carotid_artery_diseases,,D002340,371160000,G45.1,,, 4735,cartilage_disease,,,D002357,203914002|203526003|268126004|268062001|50927007|367355001|308148004|203908009,M91-M94,,, 4736,cataract,cataract,366.8,D002386,193622008|193620000,,,, 4737,cauda_equina_neoplasm,,,,126963001,,,, 4738,cavernous_hemangioma,cavernous_hemangioma,,D006392,56975005|416824008|254781005|67668002|33377007|157014007|189192007,,,, 4739,cecal_disease,cecal_diseases,,D002429,128525008,,,, 4740,cecum_cancer,,153.4,D002430,363350007|187756005|269538009|93736007|154459000|255081007,C18.0,,, 4741,cell_type_benign_neoplasm,,,,,,,, 4742,cell_type_cancer,,,,,,,, 4743,central_epithelioid_sarcoma,,,,,,,, 4744,central_nervous_system_adult_germ_cell_tumor,,,,,,,, 4745,central_nervous_system_cancer,central_nervous_system_neoplasms,,D016543,190135002|93744007|372062007|126951006,,,, 4746,central_nervous_system_childhood_germ_cell_tumor,,,,,,,, 4747,central_nervous_system_disease,central_nervous_system,,D002493,155059003|267144009|193076009|194566008|267679005|275539005|192641002|267700003|154981003|23853001|267702006|155049004|138748005,G96|G96.8,,, 4748,central_nervous_system_germ_cell_tumor,,,,,,,, 4749,central_nervous_system_germinoma,,,,,,,, 4750,central_nervous_system_hereditary_degenerative_disease,,,,192838009|192842007,,,, 4751,central_nervous_system_immature_teratoma,,,,,,,, 4752,central_nervous_system_mature_teratoma,,,,,,,, 4753,central_nervous_system_melanocytic_neoplasm,,,,277523004,,,, 4754,central_nervous_system_mesenchymal_non_meningothelial_tumor,,,,,,,, 4755,central_nervous_system_organ_benign_neoplasm,,,,,,,, 4756,central_nervous_system_primitive_neuroectodermal_neoplasm,,,,,,,, 4757,central_nervous_system_sarcoma,,,,,,,, 4758,central_nervous_system_vasculitis,,,D020293,,,,, 4759,cerebellar_astrocytoma,,,,,,,, 4760,cerebellar_ataxia,cerebellar_ataxia,,,,,,G23.0, 4761,cerebellar_disease,cerebellar_diseases,,D002526,224186005|223176004|155010002|267691001|192867005|307361005|49784007,,,, 4762,cerebellar_medulloblastoma,,,,,,,, 4763,cerebellopontine_angle_tumor,,,,126947009,,,, 4764,cerebellum_cancer,,,D002528,126960003|363472008|154548007,C71.6,,, 4765,cerebral_arterial_disease,,,D002539,,,,, 4766,cerebral_convexity_meningioma,,,D008579,,,,, 4767,cerebral_degeneration,cerebral_degeneration,331.9,,267686002|52522001|73768007|192824002|267688001|154998003|418143002|154994001|267579001,,,, 4768,cerebral_hemisphere_lipoma,,,,,,,, 4769,cerebral_infarction,cerebral_infarction,,D002544,195188006|20059004|266315008|155405006|266256009|195191006|432504007,I63|I63.0|I63.1|I63.2|I63.3|I63.4|I63.5|I63.6,,, 4770,cerebral_meningioma,,,,189164002,,,, 4771,cerebral_palsy,cerebral_palsy,,D002547,270488006|155024003|128188000|1178005|267696006,G80,,, 4772,cerebral_ventricle_cancer,,,D002551,363471001|188294008|93748005|126958000,C71.5,,, 4773,cerebrovascular_disease,cerebrovascular_disease,430-438.99|437.9,D002561,266312006|155412002|195249004|62914000|195595007|155388006,I60-I69|I68|I67.8|I67.9,,, 4774,cerebrum_cancer,,191.8,,188300006|126953009|188304002,,,, 4775,cervical_adenitis,,,,3502005,,,, 4776,cervical_adenocarcinoma,,,,154522004|269596006|254887002,,,C53, 4777,cervical_adenomyoma,,,,,,,, 4778,cervical_adenosquamous_carcinoma,,,,254888007,,,, 4779,cervical_benign_neoplasm,,,,,,,, 4780,cervical_cancer,cervical_cancer,180|180.9,D002583,363354003|188174005|188186008|123841004|93752005|254885005|269599004|269596006|154522004|154525002|285432005,C53,,, 4781,cervical_carcinosarcoma,,,,,,,, 4782,cervical_mucinous_adenocarcinoma,,,,,,,, 4783,cervical_squamous_cell_carcinoma,,,,254886006,,,, 4784,cervicitis,cervicitis,,D002575,37610005|266654000|80059007|237081003|198200007|198199009|198211004|155980007|266585004,,,, 4785,cervix_endometrial_stromal_tumor,,,,,,,, 4786,chandler_syndrome,,371.57,D057129,231935005|404632009|392481002|16949007|416960004,,,H21.1,392481002 4787,charcot_marie_tooth_disease,charcot-marie-tooth_disease,356.1,D002607,193158000|128202008|193162006|50548001,,,G60.0,45853006 4788,cheilitis,cheilitis,,D002613,196557006|155664000|7847004|266495008,,,, 4789,childhood_brain_stem_glioma,,,,,,,, 4790,childhood_electroclinical_syndrome,,,,,,,, 4791,childhood_infratentorial_neoplasm,,,,,,,, 4792,childhood_kidney_neoplasm,,,,,,,, 4793,childhood_leukemia,childhood_leukemia,,,,,,, 4794,childhood_pilocytic_astrocytoma,,,,,,,, 4795,childhood_teratoma_of_the_ovary,,,,,,,, 4796,childhood_testicular_mixed_germ_cell_tumor,,,,,,,, 4797,cholangiocarcinoma,cholangiocarcinoma,,D018281,312104005|70179006,,D001650|D018281,C22.1,312104005|70179006 4798,cholangitis,cholangitis,576.1,D002761,82403002|197445007|155831003|246181008,K83.0,,, 4799,cholecystitis,cholecystitis,575.10,D002764,197414008|76581006,K81|K81.1|K81.9,,, 4800,cholestasis,cholestasis,576.2,D002779,197447004|33688009|30144000|197446008,K83.1,,, 4801,cholesteatoma,cholesteatoma,385.30,D002781,267766007|363668000|575006|155244001,,,, 4802,cholesterol_embolism,cholesterol_embolism,445,D017700,10690002,,,, 4803,chondroid_chordoma,,,,128784007,,,, 4804,chondroma,chondroma,,D002812,31186001|269638002|189885004|187899007|154611005|188980001,,,, 4805,chondromalacia,chondromalacia,733.92,D002357,203512007|63198006,M94.2,,, 4806,chondrosarcoma,chondrosarcoma,,D002813,443520009|189886003|134336003|14990007,,D002813,,443520009 4807,chordoma,chordoma,,D002817,50007008,,D002817,,50007008 4808,choreatic_disease,,,,,,,, 4809,choriocarcinoma,choriocarcinoma,,D002822,188188009|44769000|189444004,,,, 4810,choriocarcinoma_of_ovary,,,,254870004,,,, 4811,choriocarcinoma_of_the_testis,,,,,,,, 4812,chorioretinal_scar,,363.3|363.30,,193460009|193455005|53854005,H31.0,,, 4813,chorioretinitis,chorioretinitis,363.20,D002825,46627006|270531006|193432007,,,, 4814,choroid_disease,choroid,363.9,D015862,193431000|193480005,H31|H31.8,,, 4815,choroidal_sclerosis,,363.4|363.40,,193464000|247199007|406446000|267617003|47638000|193461008,H31.1,,, 4816,choroideremia,choroideremia,363.55,D015794,75241009,,D015794,H31.2,75241009 4817,chromophil_adenoma_of_the_kidney,,,,,,,, 4818,chromophobe_adenocarcinoma,,,D002292,1443001|128667008,,,, 4819,chromosomal_disease,chromosomal_disease,,,,Q99.9,,, 4820,chronic_cervicitis,,,,56728002|198210003,,,, 4821,chronic_conjunctivitis,,372.10|372.1,,193865006|73762008|193869000|155163007,H10.4,,, 4822,chronic_cystitis,,595.2,,197842002|197839008|198536006,,,, 4823,chronic_inflammation_of_lacrimal_passage,,375.4,,193990009|267653001|193991008,,,, 4824,chronic_kidney_failure,chronic_kidney_failure,585.6,D007676,90688005|197655004|197654000|46177005|155856009|197755007,N18,,, 4825,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,,D015451,,,,, 4826,chronic_meningitis,,322.2,,21664006,G03.1,,, 4827,chronic_myeloproliferative_disease,,,,115248004|20921005|128842008,D47.1,,, 4828,chronic_orbital_inflammation,,376.10|376.1,,44729001|194007005|194011004,H05.1,,, 4829,chronic_polyneuropathy,,,,,,,, 4830,chronic_progressive_external_ophthalmoplegia,chronic_progressive_external_ophthalmoplegia,378.72,D017246,194126004|194034008|46252003,,,, 4831,chronic_pulmonary_heart_disease,,416.8,,194887007|194889005,,,, 4832,chronic_purulent_otitis_media,,382.3,,38394007|232253005|155228005|194284006,,,, 4833,chronic_pyelonephritis,,590.0,,63302006|197767009|266619007|123293005|155861006,,,, 4834,chronic_salpingitis,,,,55551005,,,, 4835,chronic_ulcer_of_skin,chronic_ulcer_of_skin,707,,19429009|156423009|156426001|201259007,L98.4,,, 4836,clear_cell_meningioma,,,D008579,57606003|134213009,,,, 4837,clivus_chordoma,,,,,,,, 4838,clivus_meningioma,,,,,,,, 4839,cll_sll,,,,399607007,,,, 4840,coccidiosis,coccidiosis,,D003048,62005008|186125004,,,, 4841,collagen_disease,collagen_disease,,D003095,201454004|201434000|268048008|156458006|81573002,,,, 4842,colon_adenocarcinoma,colon_adenocarcinoma,,,255082000,,,, 4843,colon_cancer,colon_cancer,153.9|153,D003110,187759003|363406005|269461008|93761005|269542007|154463007|269533000|154454005,C18,,, 4844,colon_sarcoma,,,,,,,, 4845,colonic_disease,colonic_diseases,,D003108,128524007,,,, 4846,colonic_neoplasm,colonic_neoplasms,,D003110,126838000,,,, 4847,color_blindness,color_blindness,368.5,D003117,193683001|193685008|53481002|155143000|367469000,H53.5,,, 4848,combined_t_cell_and_b_cell_immunodeficiency,,279.2,,191003005,,,, 4849,commensal_bacterial_infectious_disease,,,,,A49,,, 4850,common_bile_duct_disease,common_bile_duct,,D003137,,,,, 4851,communicating_hydrocephalus,,331.3,D006849,59013007|271569006,G91.0,,, 4852,communication_disorder,communication_disorder,,D003147,74825008|278919001,,,, 4853,compartment_syndrome,compartment_syndrome,958.90,D003161,212379008|111245009|45781009,,,, 4854,complement_deficiency,complement_deficiency,,,191014008|24743004,,,, 4855,complex_regional_pain_syndrome,complex_regional_pain_syndrome,,D020918,128200000,,D020918,G56.4|M89.0,128200000 4856,congenital_disorder_of_glycosylation,congenital_disorder_of_glycosylation,,D018981,238049009,,,, 4857,congenital_heart_defect,congenital_heart_defect,746.9|429.9,D006330|D006331,268318000|156926008|204413006|156911006|13213009|268315002|204405005|266275004|266311004|56265001|195152001|194707003|155263000,I50|I50.9|I51.9,,, 4858,congenital_hemolytic_anemia,congenital_hemolytic_anemia,282|282.9,D000745,42601008|267556002|154794008|191208008|267558001|38911009|154801000,D58.8,,, 4859,congenital_hypoplastic_anemia,,284.0,,188588001|154808006|28975000|267523003|88854002|191236003|191235004|191242004,D61.0,,, 4860,congenital_mesoblastic_nephroma,,,D018201,,,D018201,C64,11793003|307604008 4861,congenital_muscular_dystrophy,congenital_muscular_dystrophy,,,,,,G71.2,240059009 4862,congenital_nervous_system_abnormality,,742,,204018008,,,, 4863,congenital_structural_myopathy,,,D020914,,,,, 4864,congenital_syphilis,congenital_syphilis,090|090.9,D013590,154380005|35742006|186845009|187352005,A50,,, 4865,congestive_heart_failure,,428.0|428.9|428,D006333,155375008|266308000|195108009|195117009|155374007|84114007|42343007|155377000|266248006,I50.0,,, 4866,conjunctival_cancer,,,D003230,363463000|93764002|126996004,C69.0,,, 4867,conjunctival_degeneration,,372.50,,40787005|193886006,,,, 4868,conjunctival_deposit,,372.56,,62660000,,,, 4869,conjunctival_disease,conjunctival_diseases,372.9|372,D003229,59698003|155169006|155161009|267735001|193906005|194583004,,,, 4870,conjunctivitis,conjunctivitis,372.30,D003231,9826008|193875009|193858003|193857008,,,, 4871,connective_tissue_cancer,,,D009372,126598008|254821003,,,, 4872,connective_tissue_disease,connective_tissue_disease,,D003240,268048008|201432001|105969002|268126004,,,, 4873,constipation,constipation,564.00|564.0,D003248,14760008|139356000|162082007|139359007|197123003|162083002|363693003|139358004|162080004,K59.0,,, 4874,contact_dermatitis,contact_dermatitis,,D003877,156348006|156338009|200883000|200780008|40275004|267842005|267846008|200889001,L25|L25.0|L25.1|L25.2|L25.3|L25.4|L25.5|L25.8,,, 4875,conventional_central_osteosarcoma,,,,,,,, 4876,cornea_cancer,,190.4,,363464006|126997008|93766000,C69.1,,, 4877,corneal_degeneration,,371.40|371.4,,193830006|111521006|193824006,H18.4,,, 4878,corneal_deposit,,371.10,,74460005|193804007|193803001,,,, 4879,corneal_disease,corneal_disease,371.9,D003316,193856004|193794007|155160005|267733008|15250008,H17.9,,, 4880,corneal_dystrophy,corneal_dystrophy,371.5|371.50,D003317,193842001|193832003|193831005|5587004|77797009,H18.5,,, 4881,corneal_edema,,371.20|371.2,D015715,193812004|193811006|155158008|27194006|193817005,,,, 4882,corneal_neovascularization,corneal_neovascularization,370.60|370.6,D016510,19161004|193791004|193789007,H16.4,,, 4883,corneal_ulcer,corneal_ulcer,370.0|370.00,D003320,193759000|193758008|155152009|91514001|193763007,H16.0,,, 4884,coronary_arteriosclerosis,coronary_arteriosclerosis,414.0,D003324,41702007|194841001|53741008|155316000|266231003|194795001|155315001|266290000,,,, 4885,coronary_stenosis,,,D023921,233970002,,,, 4886,cranial_nerve_disease,cranial_nerve,352.9,D003389,276379008|267709002|193104009|73013002|267598004,G53,,, 4887,cranial_nerve_iii_tumor,,,,126969002,,,, 4888,cranial_nerve_malignant_neoplasm,,192.0,D003390,188307009|93767009|188311003,,,, 4889,cranial_nerve_neoplasm,,,D003390,126966009,,,, 4890,cranial_nerve_palsy,,,D003389,73013002,,,, 4891,craniopharyngioma,craniopharyngioma,,D003397,40009002|189179009,,D003397,D44.4,189179009|40009002 4892,craniosynostosis,craniosynostosis,,D003398,205414007|205411004|57219006,,,, 4893,cutaneous_mastocytosis,,,D034701,397012002,,D034701,Q82.2,397012002|8214000 4894,cutaneous_t_cell_lymphoma,,,,,,,, 4895,cystadenocarcinoma,cystadenocarcinoma,,D003536,189681005|21008007,,,, 4896,cystadenofibroma,,,,2962009,,,, 4897,cystic_kidney,cystic_kidney_disease,,D052177,,Q61,,, 4898,cystic_teratoma,,,,42717009,,,, 4899,cystitis,cystitis,595|595.9,D003556,197857009|266629000|155885003|38822007|155882000,N30|N30.9,,, 4900,dacryoadenitis,dacryoadenitis,375.00|375.0,D003607,86927009|193973003|193971001,H04.0,,, 4901,dacryocystitis,dacryocystitis,375.30,D003607,155183008|85777005|193987003|267738004|193989000,,,, 4902,deep_angioma,,,,,,,, 4903,deep_keratitis,,370.5,,193788004|193783008,,,, 4904,degeneration_of_macula_and_posterior_pole,,362.5,,193392009|267611002|193384000,H35.3,,, 4905,delusional_disorder,delusional_disorder,297.1,D012563,192330005|48500005,F22.0,,, 4906,dementia,dementia,290.8,D003704,,,,, 4907,demyelinating_polyneuropathy,,,,23414001,,,, 4908,dendritic_cell_sarcoma,,,,128815007|397355008,C96.4,,C85.0,397355008 4909,dendritic_cell_thymoma,,,,,,,, 4910,dengue_disease,,061,D003715,266194002|154345006|38362002,A90,D003715,A90,38362002 4911,dental_caries,dental_caries,521.0|521.00,D003731,80967001|155632007|196307002,K02,,, 4912,dental_enamel_hypoplasia,,,D003744,26597004|196277000,,,, 4913,dental_pulp_disease,,,D003788,57203004,,,, 4914,dermatitis,dermatitis,,D003872,156388001|4979002|267847004|238538009|267856007|43116000|200884006|182782007|156358005,L30,,, 4915,dermatitis_herpetiformis,dermatitis_herpetiformis,694.0,D003874,111196000|156354007|200899006,L13.0,D003874,L13.0,111196000 4916,dermatographia,dermatographia,708.3,,402410006|201265007|123093003|270885004|238685008|156430003|402601007|247473009|201263000|7632005,L50.3,,, 4917,dermatomycosis,dermatomycosis,111.9|111,D003881,186984003|47382004|187004009|14560005|276206000|187002008|187476003,,,, 4918,dermatomyositis,dermatomyositis,710.3,D003882|C538250,38826005|203795006|396230008|201445002|156456005|201448000,M33|M33.9,D003882,M33.0|M33.1,396230008 4919,dermatophytosis,dermatophytosis,110|110.9,D003881,266214005|186984003|154394006|187474000|186998006|47382004,B35|B35.9,,, 4920,dermis_tumor,,,,254735005,,,, 4921,descending_colon_cancer,,153.2,,93771007|363409003|269536008|154457003,C18.6,,, 4922,diabetes_mellitus,diabetes_mellitus,250,D003920,191044006|267467004|154671004|73211009,E10-E14|E13|E14|E13.0|E13.1|E13.2|E13.3|E13.4|E13.5|E13.6|E13.7|E13.8|E13.9|E14.0|E14.1|E14.2|E14.3|E14.4|E14.5|E14.6|E14.7|E14.8|E14.9|O24.3|O24.9,,, 4923,diabetic_neuropathy,diabetic_neuropathy,250.6,D003929,190353001|267472008|866003|154683002|230572002|190349003|193182005,,,, 4924,diabetic_retinopathy,diabetic_retinopathy,362.0,D003930,309595004|267471001|155107006|154678005|4855003|193353002|163997001|141196007,H36.0,,, 4925,diarrhea,diarrhea,009.2,D004403|D003967,266173000|154279005|19213003|266180003|236076004|186167008|186165000|154268000|111939009,,,, 4926,diencephalic_neoplasm,,,,,,,, 4927,diffuse_glomerulonephritis,,,,,,,, 4928,dilated_cardiomyopathy,,,D002311|C536231|C536277,195021004|195018001|389995008|399020009|74368002,,,, 4929,disease_of_diaphragm,,519.4,,48475001|196182001,J98.6,,, 4930,disease_of_mental_health,,290-319.99,D001523,192639003|154843007|154972009|154980002|154971002|192637001|74732009,,,, 4931,disseminated_intravascular_coagulation,disseminated_intravascular_coagulation,286.6,D004211,267563002|67406007,D65,,, 4932,dissociative_disorder,dissociative_disorder,300.15,D004213,44376007|154883004,F44|F44.9,,, 4933,diverticulitis,diverticulitis,,D004238,197095003|197102009|197103004|307496006|18126004|155779000,,,, 4934,drug_dependence,drug_dependence,304.60|304.6,,191864000|191860009|268644006|191859004,,,, 4935,drug_induced_mental_disorder,,292.89|292.8,,,,,, 4936,dry_eye_syndrome,dry_eye_syndrome,375.15,D015352,155182003|193980001|46152009,,,, 4937,duodenal_disease,duodenum,,D004378,196598004|52182008,,,, 4938,duodenal_neoplasm,duodenal_neoplasms,,D004379,126833009,,,, 4939,duodenal_obstruction,,,D004380,95532008,,,, 4940,duodenum_cancer,duodenal_cancer,152.0,,93775003|269615000|154555009|363403002,C17.0,,, 4941,dysentery,dysentery,009.2,D004403,19213003|154268000|154279005|186167008|111939009|186165000|266180003|236076004|266173000,,,, 4942,dysgammaglobulinemia,dysgammaglobulinemia,,D004406,123782009|127389001,,,, 4943,dysgerminoma_of_ovary,,,,254874008,,,, 4944,dysostosis,dysostosis,,D004413,109420003,,,, 4945,dystonia_musculorum_deformans,,333.6,D004422,22451001|155008004|431034009|52274002,,,, 4946,dystonic_disease,,,D020821,194478005|192863009|15802004,,,, 4947,eating_disorder,eating_disorder,307.50,D001068,192444003|192452000|72366004,F50|F50.9,,, 4948,eccrine_adenocarcinoma,,,,128686000,,,, 4949,eccrine_mixed_tumor_of_skin,,,,254720009|400144002,,,, 4950,eccrine_sweat_gland_cancer,,,,,,,, 4951,eccrine_sweat_gland_neoplasm,,,,,,,, 4952,echinococcosis,echinococcosis,122,D004443,74942003|154414008|187143006,B67|B67.8,D004443,B67,74942003 4953,ectropion,ectropion,374.1|374.10,D004483,62909004|193935002|127559009|193934003|155178000,H02.1,,, 4954,ehlers_danlos_syndrome,ehlers-danlos_syndrome,756.83,D004535,268352002|398114001|2300005|238848002|157008000,,,, 4955,ehrlichiosis,ehrlichiosis,082.40|082.4,D016873,77361002,,D016873,A48.8,77361002 4956,elephantiasis,elephantiasis,,D004604,155485008|240820001|266334008,,,, 4957,embryonal_cancer,,,D009373|D018236,28047004|189843003,,D018236,,28047004 4958,embryonal_rhabdomyosarcoma,embryonal_rhabdomyosarcoma,,D018233,14269005|404051002,,,, 4959,embryonal_testis_carcinoma,,,,,,,, 4960,encephalitis,encephalitis,,D004660,267682000|192736002|45170000|267578009,G04.9,,, 4961,encephalomalacia,encephalomalacia,,D004678,58762006,,,, 4962,encephalomyelitis,encephalomyelitis,,D004679,154991009|267682000|192682002|230196000|192735003|62950007|192736002|267684004|286936006,,,, 4963,endocarditis,endocarditis,,D004696,91357005|194935007|56819008,,,, 4964,endocrine_exophthalmos,endocrine_exophthalmos,376.2,,53061005|415717005|276177000|194012006,,,, 4965,endocrine_gland_cancer,,,D004701,387927001|127015005|371982006|93780007|387922007|190140005|363347009,,,, 4966,endocrine_organ_benign_neoplasm,,,,,,,, 4967,endocrine_pancreas_disease,,251,,237574003|190427005|190450004|267385007,,,, 4968,endodermal_sinus_tumor,endodermal_sinus_tumor,,D018240,74409009|404081005,,,,404081005 4969,endogenous_depression,endogenous_depression,,D003866,231498003|154873003|300706003|191599006,,,, 4970,endometrial_adenocarcinoma,,,,123845008|189652009|309245001|189649001,,,, 4971,endometrial_carcinoma,endometrial_carcinoma,,D018269,269600001|254878006|30289006|154526001|93781006,C54.1,,, 4972,endometrial_stromal_tumor,endometrial_stromal_tumors,,D036821,68738004,,,, 4973,endometriosis,endometriosis,617.9|617,D004715,129103003|155988000|198246007|198259004|11871002|103677003|266588002|396224008,N80|N80.9,,, 4974,endometriosis_of_uterus,,617.0,D004715,198248008|76376003|155988000|198246007|198249000|198247003|237115002,N80.0,,, 4975,endometritis,endometritis,,D004716,266653006|198192000|266652001|155975003|78623009,,,, 4976,endophthalmitis,endophthalmitis,,D009877,82255004|123052006|1847009|128295000,H45.1,D009877,H44.0|H44.1,1847009 4977,enthesopathy,enthesopathy,726.9,D012216,23680005|202890003|278525009,M76.9|M77.9,,, 4978,entropion,entropion,374.00,D004774,246821008|155177005|193928005|33168009,,,, 4979,eosinophilia,eosinophilia,288.3,D004802,165524009|418928000|191363000|27955006,,,, 4980,eosinophilic_pneumonia,eosinophilic_pneumonia,,D011657,196145005|91053000|367542003,,,, 4981,ependymoblastoma,ependymoblastoma,,D018242,21589007|253070006,,,, 4982,epidemic_typhus,epidemic_typhus,,,,,D014438,A75.0,39111003 4983,epidermolysis_bullosa,epidermolysis_bullosa,,D004820,205580008|61003004,,,, 4984,epididymis_cancer,,187.5,,363452003|93783009,C63.0,,, 4985,epididymo_orchitis,epididymo-orchitis,604|604.90,,155917002|155913003|155915005|198001001|198004009|197983000|24084007|198003003,,,, 4986,epidural_neoplasm,,,D015174,,,,, 4987,epilepsy_syndrome,epilepsy,345.9,D004827,267698007|84757009|271788002|155045005|267593008|193026007|155036009|313307000|246545002|128613002,,,, 4988,epithelioid_sarcoma,epithelioid_sarcoma,,D012509,59238007,,,C49.9, 4989,epulis,epulis,,D005882,71708001|45676007,,,, 4990,esophageal_cancer,esophageal_cancer,,D004938,154443000|269523008|154444006|187725002|93877002|269524002|187724003|187727005|187726001|187729008|126817006|93895004|93656003|94119000|255079005|372138000|93785002|154441003,C15|C15.4|C15.5,,C15,372138000 4991,esophageal_disease,esophageal_diseases,530.9|530,D004935,155680005|155671005|196626000|266497000|37657006,,,, 4992,esophagitis,esophagitis,530.10|530.1,D004941,155673008|266498005|16761005|196605000,,,, 4993,esophagus_adenocarcinoma,,,,276803003,,,, 4994,esophagus_sarcoma,,,,,,,, 4995,esophagus_squamous_cell_carcinoma,,,,276804009,,,, 4996,esotropia,esotropia,378.0|378.00,D004948,155193001|194074002|194085000|16596007,,,, 4997,essential_hypertension,essential_hypertension,401|401.9,,155296003|194757006|266228004|194760004|59621000,I10,,, 4998,ethmoid_sinus_cancer,,160.3,,363426009|93787005,C31.1,,, 4999,ethmoid_sinusitis,,,D015521,18643000,,,, 5000,ethmoidal_sinus_neoplasm,,,,126677000,,,, 5001,eustachian_tube_disease,,381.8|381.89,,194277003|194278008,H69|H69.8,,, 5002,ewings_family_localized_tumor,,,,,,,, 5003,exanthem,exanthem,,D005076,,,,, 5004,excessive_tearing,,375.20|375.2,D007766,162289008|267740009|267094008|49393005|420103007|155185001|193985006|139559008|418035005|193982009,H04.2,,, 5005,exostosis,exostosis,726.91,D005096,202894007|268091003|267997004|416189003|80400009|156665008,M25.7,,, 5006,exotropia,exotropia,378.10|378.1,D005099,75400001|399252000|194098009|155194007|194086004|399054005,H50.1,,, 5007,external_ear_carcinoma,,,,,,,, 5008,extracranial_neuroblastoma,,,,,,,, 5009,extragonadal_germ_cell_cancer,,,,,,,, 5010,extragonadal_germ_cell_malignant_tumor,,,,,,,, 5011,extrahepatic_bile_duct_adenocarcinoma,,,,,,,, 5012,extrahepatic_bile_duct_adenoma,,,,,,,, 5013,extraocular_retinoblastoma,,,,,,,, 5014,extraosseous_chondrosarcoma,,,,,,,, 5015,extraosseous_ewings_sarcoma,,,,,,,, 5016,extraosseous_osteosarcoma,,,,404077005,,,, 5017,extrapulmonary_tuberculosis,,,,,,,, 5018,extrinsic_allergic_alveolitis,extrinsic_allergic_alveolitis,495|495.9,D000542,195993008|37471005|195994002|266399001|155581001,J67|J67.8|J67.9,D000542,J67,37471005 5019,extrinsic_cardiomyopathy,,425.8,,195580005,,,, 5020,eye_accommodation_disease,,367.5,,54552008|193631008|155137002,,,, 5021,eye_and_adnexa_disease,,362.10,,193355009|42873008|31411005,07|H55-H59|H57|H58|H57.8|H58.8,,, 5022,eye_degenerative_disease,,360.4|360.2|360.40|360.20,,62585004|193279009|193285002|193292007|193275003,,,, 5023,eye_disease,eye_disease,360|360.9|379.90,D005128,366261005|155101007|155198005|193266000|371405004|194183009|79517001|193265001|371409005|193316008|264555006|111509007,,,, 5024,eye_lymphoma,,,,,,,, 5025,eyelid_degenerative_disease,,374.50,,193957009|1112003,H02|H03|H02.8,,, 5026,eyelid_disease,eyelid,374.9,D005141,155180006|267737009|193970000|60113004,,,, 5027,facial_nerve_disease,facial_nerve,351|351.9,D005155,155071009|155069009|90039006|230543003|422426003|193097005|267704007,G51|G51.8,,, 5028,facial_paralysis,facial_paralysis,,D005158,90039006|280816001|79359001|46382007|155070005|267703001,,,, 5029,factitious_disorder,factitious_disorder,300.16,,31122002|430751001,,,, 5030,fallopian_tube_adenocarcinoma,,,,,,,, 5031,fallopian_tube_adenofibroma,,,,,,,, 5032,fallopian_tube_benign_neoplasm,,,,,,,, 5033,fallopian_tube_cancer,fallopian_tube_cancer,,D005185,363444001|93794008|126916003|269602009|154529008|276870001,,,C57.0,363444001 5034,fallopian_tube_carcinosarcoma,,,,,C57.0,,, 5035,fallopian_tube_disease,fallopian_tube,,D005184,128134005,,,, 5036,fallopian_tube_germ_cell_cancer,,,,,,,, 5037,familial_dystonia,,,D020821|C538001,,,,, 5038,familial_hyperlipidemia,,,D006949|D006951,55822004|154743001|3744001|267499005|154739000|190782002,,,, 5039,fasciitis,fasciitis,729.4,D005208,36948007|203123000,,,, 5040,female_reproductive_organ_cancer,,,D005833,188207007|126907002,C51-C58|C57.7,,, 5041,female_reproductive_system_disease,,629.9,D005831,156032001|244938009|198486002|310789003|156066005|266680004|38233001,,,, 5042,female_urethral_cancer,,,,,,,, 5043,fetal_alcohol_spectrum_disorder,fetal_alcohol_spectrum_disorder,,,,Q86.0,D005310,Q86.0,205788004 5044,fetishism,fetishism,302.81,D005329,59174009|192513009,F65.0,,, 5045,fibrosarcoma,fibrosarcoma,,D005354,53654007|443250000,,D005354,,53654007 5046,filariasis,filariasis,125.9,D005368,187161002|50342004|187532008|105706003,B74|B74.0|B74.1|B74.2|B74.9,D005368,B74, 5047,focal_chorioretinitis,,363.0|363.00,,193433002|359668007|458003|193439003|15847003,,,, 5048,focal_epilepsy,focal_epilepsy,,D004828,193007004|29753000|67139004|155044009|155041001|230381009,,,, 5049,follicular_adenoma,follicular_adenoma,,D000236,55021007,,,, 5050,follicular_thyroid_carcinoma,follicular_thyroid_carcinoma,,D018263,189642005|255028004|5257006|28173006,,,C73, 5051,food_allergy,food_allergy,,D005512,213018006|157801005|52332009|414285001,,,, 5052,foramen_magnum_meningioma,,,,,,,, 5053,fragments_of_torsion_dystonia,,333.8,,192862004|57937000|192859002,,,, 5054,frontal_sinus_cancer,,160.4,,363427000|93808006,C31.2,,, 5055,frontal_sinus_neoplasm,,,,126678005,,,, 5056,frontal_sinusitis,,,D015522,275485006|78737005|195786002,,,, 5057,functional_colonic_disease,functional_colonic_disease,,D003109,,,,, 5058,functional_gastric_disease,,536.8,,,,,, 5059,functioning_pituitary_adenoma,,,,,,,, 5060,fundus_dystrophy,,,D058499,314407005,,D058499,,314407005 5061,fungal_meningitis,,,D016921,24321005,,,, 5062,galactosemia,galactosemia,271.1,D005693,267498002|190747003|190749000|190745006|38177000|154738008,K70-K77|K72|K77|K72.9|K76.8|K76.9|K77.8,D005693,E74.2,190745006 5063,gallbladder_adenocarcinoma,,,,,,,, 5064,gallbladder_cancer,gallbladder_cancer,,D005706,363353009|93810008|269550003|254602009|126854002|154472004|187782001|372140005|255085003,C23,,C23,372140005 5065,gallbladder_disease,gallbladder,575.9,D005705,155829007|266535008|155807008|266543003|39621005|155826000|266542008,K82.8,,, 5066,gallbladder_sarcoma,,,,,,,, 5067,gamma_amino_butyric_acid_metabolism_disorder,,,,,,,, 5068,ganglioneuroblastoma,ganglioneuroblastoma,,D018305,69515008,,,, 5069,gangliosidosis,gangliosidosis,,D005733,50967008,,,, 5070,gangliosidosis_gm2,,,D020143,33316007,,,, 5071,gastric_adenocarcinoma,,,,408647009,,,, 5072,gastric_cardia_carcinoma,,,,,,,, 5073,gastric_diffuse_adenocarcinoma,,,,24505004,,,, 5074,gastric_teratoma,,,,,,,, 5075,gastritis,gastritis,,D005756,196743006|155711008|4556007|266503008|235653009,K29.0|K29.7,,, 5076,gastroenteritis,gastroenteritis,,D005759,25374005|266179001|197010007|154278002,,,, 5077,gastrointestinal_anthrax,,022.2,C531621,111798006|186302005,A22.2,,, 5078,gastrointestinal_neuroendocrine_tumor,,,,,,,, 5079,gastrointestinal_system_benign_neoplasm,,,,,,,, 5080,gastrointestinal_system_cancer,,239.0,D004067,126768004|276806006|93811007|367543008|128348002|428905002|128415001|189527000,,,, 5081,gastrointestinal_system_disease,gastrointestinal_system,520-579.99,D004066,266483008|197575000|155847001|53619000|155629009,11|K92.2|K92.8,,, 5082,gastrointestinal_tuberculosis,,,D014385,154286002|186228005|240376003,A18.3,,, 5083,gender_identity_disorder,gender_identity_disorder,302.89|302.8,,5095008,F64,,, 5084,germ_cell_and_embryonal_cancer,,,D009373,,,,, 5085,gestational_choriocarcinoma,gestational_choriocarcinoma,,,417570003|417057000|1884006,,,C58, 5086,giant_cell_tumor,giant_cell_tumor,,D005870,189890001|115238001|443790001|134300001|189893004,,,, 5087,gingival_disease,gingival_disease,,D005882,18718003|266489007|155642009,,,, 5088,gingival_overgrowth,gingival_overgrowth,,D019214,54711002|196375006|271083000,K06.1,,, 5089,gingivitis,gingivitis,523.1,,266490003|31642005|155643004|155644005|72621003|196358000|234990002|66383009|196355002,K05.0|K05.1,,, 5090,glaucoma,glaucoma,365.9|365,D005901,194631001|23986001|193569008|155120009,H40-H42|H40|H42|H40.9|H42.8,,, 5091,glioblastoma,glioblastoma,,D005909,189917003|269506004|63634009,,,, 5092,globe_disease,,360.29,,194638007,H44|H44.8,,, 5093,glomangioma,glomangioma,,D005918,7429002,,,, 5094,glomerulonephritis,glomerulonephritis,,D005921,36171008|197648001,,,, 5095,glomus_tumor,glomus_tumor,,D005918,189193002|403969002|393567008|10438002,,,, 5096,glossitis,glossitis,529.0,D005928,155666003|196583001|45534005,K14.0,,, 5097,glossopharyngeal_nerve_disease,glossopharyngeal_nerve,352,,193098000,G52.1,,, 5098,glottis_squamous_cell_carcinoma,,,,,,,, 5099,glucose_metabolism_disease,,,D044882,126877002,,,, 5100,glucosephosphate_dehydrogenase_deficiency,glucosephosphate_dehydrogenase_deficiency,,D005955,,,,, 5101,glycogen_storage_disease,glycogen_storage_disease,271.0,D006008,29633007|190744005|267498002|154738008,,,, 5102,goiter,goiter,240.9,D006042,3716002|190235005|190232008|246183006|237568003|267370001,,,, 5103,gonadal_disease,,,D006058,,,,, 5104,gonadal_dysgenesis,gonadal_dysgenesis,758.6,D006059,157020008|205681004|38804009|268356004|205695001|205692003,,,, 5105,gonococcal_seminal_vesiculitis,,098.14,,301990003,,,, 5106,gray_zone_lymphoma,gray_zone_lymphoma,,,,,,, 5107,guillain_barre_syndrome,guillain-barre_syndrome,357.0,D020275,40956001|193174005|193176007|193173004|129131007|267707000|155082001|128085000,,D020275,G61.0,40956001 5108,gum_cancer,,143|143.9,,93819009|187651005|363382005,C03,,, 5109,hair_disease,hair_disease,,D006201,267862002|156407009|279425004,L67.9,,, 5110,hair_follicle_neoplasm,,,,44155009,,,, 5111,hairy_cell_leukemia,hairy_cell_leukemia,202.4,D007943,54087003|188653005|118613001|188644003|190066005|85228003,C91.4,D007943,C91.4,118613001|54087003 5112,hallucinogen_dependence,,304.50|304.5,,191847003|191852008|268643000|38247002|191848008,,,, 5113,heart_cancer,heart_cancer,,D006338,154555009|126730001|269615000|187886009|387842002|363435002|93825008,C38.0,,, 5114,heart_conduction_disease,,426.6,,195053008|195056000,,,, 5115,heart_lipoma,,,,,,,, 5116,heart_sarcoma,,,,,,,, 5117,heart_septal_defect,heart_septal_defect,,D006343,59494005|253273004|8352002|396351009|156916001|287081002|204290008,,,, 5118,heart_valve_disease,heart_valve_disease,,D006349,195013005|368009,,,, 5119,heart_valve_prolapse,,,D016127,398995000,,,, 5120,heavy_chain_disease,heavy_chain_disease,,D006362,,,D006362,C88.2|C88.3,6381009|68979007 5121,hemangioblastoma,hemangioblastoma,,D018325,81201000,,,, 5122,hemangioma,hemangioma,228.0|228.00,D006391,400210000|189199003|269646001|367337005|253053003|254822005|154625006|189192007|189194008|189193002|2099007|189863005|93474003,,,, 5123,hemangioma_of_intra_abdominal_structure,,228.04,,93467008|189197001,,,, 5124,hemangioma_of_lung,,,,,,,, 5125,hemangiopericytoma,hemangiopericytoma,,D006393,36060005|134335004,,,, 5126,hematologic_cancer,hematologic_cancer,,D019337,414644002|414388001,,,, 5127,hemiplegia,hemiplegia,343.4,D006429,155025002|192952005|1593000|155026001|155024003|192955007|267696006,G81|G81.9,,, 5128,hemoglobinopathy,hemoglobinopathy,,D006453,267556002|80141007|154794008,,,, 5129,hemolytic_anemia,hemolytic_anemia,,D000743,191416001|61261009|191231008,D55-D59,,, 5130,hemorrhagic_disease,,287.9,D006474,191327000|191331006|268884000|191437009,D68.3|D69.9,,, 5131,hemorrhagic_fever_with_renal_syndrome,hemorrhagic_fever_with_renal_syndrome,078.6,D006480,70826003|186701001|102455002|364756009,,C535630|D006480,A98.5,102455002|364756009 5132,hemorrhoid,hemorrhoid,455,D006484,155477004|70153002|155469003|195472000,,,, 5133,hepatic_encephalopathy,hepatic_encephalopathy,572.2,D006501,13920009|197332007|123049003,,,, 5134,hepatic_vascular_disease,,,,235878005,,,, 5135,hepatitis,hepatitis,570,,197286002|68784009|155808003|197278002|266539002|76783007|197288001|41889008|197289009|266536009|197268000|155813004,K73|K73.0,,, 5136,hepatoblastoma,hepatoblastoma,,D018197,45024009|109843000,,D018197,C22.2,109843000|45024009 5137,hepatocellular_carcinoma,hepatocellular_carcinoma,,D006528|D008113,126851005|187779006|93870000|363361004|154470007|187771009|269548006|95214007|187768001,,D006528,C22.0,25370001 5138,hereditary_choroidal_atrophy,,363.50|363.5,,74469006|193465004|193473008,H31.2,,, 5139,hereditary_renal_cell_carcinoma,,,,,,,, 5140,hereditary_sensory_neuropathy,hereditary_sensory_neuropathy,,,,,,, 5141,hermaphroditism,hermaphroditism,,D012734|D050090,52572004|237821001,Q56.0,,, 5142,herpes_simplex,herpes_simplex,054,D006561,88594005|154332007|186534002|266191005,,,, 5143,hiatus_hernia,hiatus_hernia,,D006551,196901006|84089009|266511003|309811003|155748004|196914007,,,, 5144,hidradenitis,hidradenitis,705.83,D016575,267866004|267814008|201204008|156417004|69741000,,,, 5145,hidradenoma,hidradenoma,,D006607,307574003|255182002|189664001|189051001|400099008|81393009|254719003|253020008,,,, 5146,histidine_metabolism_disease,,270.5,,44176004|190715008,,,, 5147,histiocytic_and_dendritic_cell_cancer,,,,,,,, 5148,histiocytoma,histiocytoma,,D051642,302843004|154614002|72079004|128741006|189773000,,,, 5149,histiocytosis,histiocytosis,,D015614,65396000|60657004|190957008,,,, 5150,histoplasmosis,histoplasmosis,115.9|115,D006660,266218008|154408001|187063001|12962009|187056001|187482000|187055002,B39|B39.4|B39.9,D006660,B39,12962009|76255006 5151,hodgkins_lymphoma,hodgkins_lymphoma,201.9|201.0|201|201.2,D006689,189992008|189987006|188532005|188543002|188521005|154582001|188595005|188522003|309831004|118605002|188552006|188605006|118599009|46923007|118606001|70600005|189991001|52337003|188596006|269509006|14537002,C81|C81.9,,C81, 5152,hordeolum,hordeolum,,D006726,193913005|267736000|155172004|74612003|1489008|61523007|397513003|193912000,,,, 5153,hormone_producing_pituitary_cancer,,,,,,,, 5154,human_immunodeficiency_virus_infectious_disease,,042|042-042.99,D015658,123321001|187453001|186705005|187438009|86406008,,,, 5155,hydrocele,hydrocele,,,,N43.3,,, 5156,hydrocephalus,hydrocephalus,,C536078|D006849,154997008|267687006|192807008|230745008|154995000,Q03,,Q03, 5157,hydrophthalmos,hydrophthalmos,365.14|743.20|743.2,D006871,156898000|204113001|13832009|392368005|392371002|204115008|204112006|204114007|204111004|193541000|204121007|413728006|71111008,,,, 5158,hyperaldosteronism,hyperaldosteronism,255.1|255.10,D006929,190509005|154709005|267484005|190506003|88213004,E26|E26.0|E26.9,,, 5159,hyperglycemia,hyperglycemia,,D006943,154719004|144187006|207289007|315299009|390730002|270004003|80394007,R73.9,,, 5160,hyperimmunoglobulin_syndrome,,,,,,,, 5161,hyperostosis,hyperostosis,,D015576,203514008|13814009,M89.3,,, 5162,hyperparathyroidism,hyperparathyroidism,252.0|252.00,D006961,66999008|154696001|190451000,,,, 5163,hyperpituitarism,hyperpituitarism,,D006964,267480001|154698000|10649000,,,, 5164,hypersensitivity_reaction_type_ii_disease,,720,D001327,,,,, 5165,hypersensitivity_reaction_type_iii_disease,,,D007105,,,,, 5166,hypersensitivity_reaction_type_iv_disease,,,D007160,134363002|127071007|86295000,,,, 5167,hypersensitivity_vasculitis,hypersensitivity_vasculitis,446.2|446.20,D018366,266264003|60555002|195350001|195352009,,,, 5168,hypertension,hypertension,401-405.99|997.91,D006973,194756002|194760004|38341003|266287006|155295004|194794002|194757006|155302005|195537001,,,, 5169,hyperthyroidism,hyperthyroidism,,D006980,154655004|190239004|34486009|267464006,,,, 5170,hypertrichosis,hypertrichosis,,D006983,29966009|201165000|201164001|156409007|40090008|271607001,,,, 5171,hypertrophy_of_breast,hypertrophy_of_breast,611.1,,372281005|155963008|266646002|198114003|43336006,N62,,, 5172,hypoglossal_nerve_neoplasm,,,,126978008,,,, 5173,hypogonadism,hypogonadism,,D007006,48130008,,,, 5174,hypolipoproteinemia,hypolipoproteinemia,272.5,D007009,190783007|190788003|363140000|267436001,,,, 5175,hypopharynx_cancer,hypopharyngeal_cancer,148.9|148,D007012,187712005|93968005|187717004|363399006|93831006|303012000,C13|C13.2|C26.9|C39.9,,, 5176,hypopituitarism,hypopituitarism,,D007018,237681002|74728003|154703006|190469009|267482009,,,, 5177,hypopyon,hypopyon,364.05,,87807004,,,, 5178,hypothalamic_disease,hypothalamic_diseases,,D007027,190463005|88108008|399100005,E23.3,,, 5179,hypothyroidism,hypothyroidism,244.9,D007037,237572004|154660000|267465007|190290003|190274003|40930008|267377003,E00-E07|E07|E07.8|E35.0,,, 5180,hypotrichosis,hypotrichosis,,D007039,53602002,,,, 5181,idiopathic_generalized_epilepsy,idiopathic_generalized_epilepsy,,D004829,155043003|192989008|192994008|19598007|155038005,,,, 5182,idiopathic_interstitial_pneumonia,idiopathic_interstitial_pneumonia,516.3,D011658,236302005|266410004|129459004|233721005|155624004|196123009|196125002|45157009|196126001,,,, 5183,ileum_cancer,,152.2,,93832004|363405009,C17.2,,, 5184,immature_teratoma_of_ovary,,,,254871000,,,, 5185,immune_system_organ_benign_neoplasm,,,,,,,, 5186,impaired_renal_function_disease,,588.8|588.89,,,,,, 5187,impetigo,impetigo,684,D007169,48277006|200710001|267836006|156319000,L01|L01.0,,, 5188,impotence,impotence,,,,,,, 5189,impulse_control_disorder,impulse_control_disorder,312.30,D007174,192098008|192095006|66347000,,,, 5190,in_situ_carcinoma,carcinoma_in_situ,230-234.99|234.9,D002278,154635000|154640008|189359006|68956006|109355002|189208007|271528002|189548003,,,, 5191,infancy_electroclinical_syndrome,,,,,,,, 5192,infective_endocarditis,infective_endocarditis,,,,,,, 5193,infiltrating_renal_pelvis_transitional_cell_carcinoma,,,,,,,, 5194,inflammatory_and_toxic_neuropathy,,357|357.9,,267603007|193204000|267601009|193172009|155060008,,,, 5195,inflammatory_bowel_disease,inflammatory_bowel_disease,,,,,,, 5196,influenza,influenza,487,D007251,155562009|6142004|266353003|195931008|155559006|266393000,,,, 5197,infratentorial_cancer,,,D015192,,,,, 5198,inherited_blood_coagulation_disease,,,D025861,,,,, 5199,inner_ear_disease,,,,232297009|194690003,H80-H83|H83.8,,, 5200,intellectual_disability,intellectual_disability,317-319.99|319,D008607,91138005|192557008|228156007|154979000|110359009|154978008|192157003|1855002|268732001,,,, 5201,intermediate_uveitis,intermediate_uveitis,,D015867,155118006|314429009|398322000|308126005|193491003,,,, 5202,interstitial_keratitis,interstitial_keratitis,370.50,,193784002|1763009,,,, 5203,interstitial_lung_disease,interstitial_lung_disease,,D017563,233703007|64667001,,,, 5204,interstitial_nephritis,interstitial_nephritis,,D009395,198506002|264536006|28689008,N10-N16|N16|N15.8|N16.8,,, 5205,intestinal_disease,intestinal_diseases,569.9,D007410,155629009|266483008|197266001|85919009,,,, 5206,intestinal_neoplasm,intestinal_neoplasms,,D007414,126769007,,,, 5207,intestinal_obstruction,intestinal_obstruction,560.9,D007415,266523009|197080000|197074008|155777003|155771002|197072007|197073002|81060008,P76.2,,, 5208,intestinal_perforation,intestinal_perforation,569.83,D007416,56905009,K63.1,,, 5209,intestinal_pseudo_obstruction,intestinal_pseudoobstruction,,D007418,235825006,,,Q41.9, 5210,intracortical_osteogenic_sarcoma,,,,128774006|128770002,,,, 5211,intracranial_arteriosclerosis,intracranial_arteriosclerosis,,D002537,,,,, 5212,intracranial_hypertension,intracranial_hypertension,,D019586,28073009|267701004|155052007|271719001,,,, 5213,intracranial_sinus_thrombosis,,,D012851,,,,, 5214,intracranial_structure_hemangioma,,228.02,,189196005|93468003,,,, 5215,intracranial_thrombosis,,434.0,D020767,155401002,,,, 5216,intrahepatic_cholangiocarcinoma,,,C535533,109842005,,,, 5217,intraocular_melanoma,intraocular_melanoma,,C536494,,,C536494,D03.8,255021005|255012009 5218,intraocular_mixed_cell_type_melanoma,,,,,,,, 5219,intraocular_retinoblastoma,,,,,,,, 5220,intraventricular_meningioma,,,D008579,,,,, 5221,intrinsic_cardiomyopathy,,,,,,,, 5222,invasive_bladder_transitional_cell_carcinoma,,,,,,,, 5223,inverted_follicular_keratosis,inverted_follicular_keratosis,,,201096007|394728005|15112009,,,, 5224,inverted_papilloma,inverted_papilloma,,D018308,,,,, 5225,iridocyclitis,iridocyclitis,364.2,,12630008|193485000|193496008,H20|H20.9|H22.1,,, 5226,iris_disease,iris_diseases,,D007499,155116005|267719008|85478004,,,, 5227,iron_metabolism_disease,iron_metabolism,275.0,D019189,190851008|30913008|267504005|154751003,D50.9|E61.1|E83.1,,, 5228,irritant_dermatitis,irritant_dermatitis,,D017453,200850007|110979008,L24|L24.0|L24.1|L24.2|L24.3|L24.4|L24.5|L24.6|L24.7|L24.8,,, 5229,ischemia,ischemia,,D007511,52674009,,,, 5230,ischemic_bone_disease,,,,,,,, 5231,ischemic_heart_disease,ischemic_heart_disease,410-414.99|414.9,D017202,266291001|41702007|32598000|194852007|413844008|413838009|194878003|266290000|233822007|414795007|155315001|194795001|155322009|155303000|2610009|84537008|271430002|155318004|195540001|414545008,I20-I25,,, 5232,islet_cell_tumor,,,D007516,126864006|76345009|269636003|399528006|261713004|128878003|237596009|154609001|188855000,,,, 5233,jaw_cancer,,,D007573,126634001,,,, 5234,jejunal_cancer,,152.1,D007580,93846004|363404008,C17.1,,, 5235,juxtacortical_osteosarcoma,,,D018217,91242000|128918008|189879006,,,, 5236,keratitis,keratitis,370|370.9,D007634,155155006|193793001|155151002|193757003|267730006|5888003,H16|H16.9,C537022,H16.8, 5237,keratoacanthoma,keratoacanthoma,,D007636,254662007|58220003|156395005|201064004|201061007|267858008,,,, 5238,keratoconjunctivitis,keratoconjunctivitis,370.40,D007637,155154005|88151007|193780006|193757003,B30.0|H16.2,,, 5239,keratoconus,keratoconus,371.6|371.60,D007640,193846003|155160005|267733008|193843006|65636009,H18.6,,, 5240,keratopathy,keratopathy,,,,,,, 5241,keratosis,keratosis,,D007642,254666005,,,, 5242,kidney_angiomyolipoma,,,,254921004,,,, 5243,kidney_benign_neoplasm,,,,,D30.0,,, 5244,kidney_cancer,kidney_cancer,,D007680,154542008|188249002|93849006|126880001|363518003,,C536851,C64, 5245,kidney_disease,,,D007674,266612003|274108006|90708001|266627003|266624005|155871008,,,, 5246,kidney_sarcoma,,,,254918001,,,, 5247,kyasanur_forest_disease,kyasanur_forest_disease,065.2,D007733,23097003,A98.2,,A98.2, 5248,labium_majus_cancer,,184.1,,188212008|93850006|363446004,C51.0,,, 5249,labyrinthine_disease,,386.5|386.50,D007759,286945007|20425006|267763004|267761002|5239005|194378006|194371000,,,, 5250,labyrinthitis,labyrinthitis,386.3|386.30,D007762,194363004|155239008|23919004|194367003,H83.0,,, 5251,lacrimal_apparatus_disease,lacrimal_apparatus,375|375.9,D007766,155181005|267740009|194003009|31053003|155185001,,,, 5252,lacrimal_gland_adenocarcinoma,,,,254988008,,,, 5253,lacrimal_gland_cancer,,190.2,,188271007|127004000|188272000|93853008,,,, 5254,lacrimal_system_cancer,,,,416510003,,,, 5255,lactic_acidosis,lactic_acidosis,,D000140,91273001,E87.2,,, 5256,lagophthalmos,lagophthalmos,374.2|374.20,,193936001|60735000|193941009|193937005,H02.2,,, 5257,langerhans_cell_histiocytosis,langerhans_cell_histiocytosis,,D006646,190956004|234439008|65399007|110450007|269628007|190955000|128809007|154583006,,D006646|D004803,D76.0|C96.6|C96.5,128809007|190955000|65399007|129000002 5258,language_disorder,language_disorder,,D007806,62305002,,,, 5259,large_bowel_leiomyoma,,,,,,,, 5260,large_intestine_lipoma,,,,,,,, 5261,laryngeal_benign_neoplasm,,,D007822,126692004,,,, 5262,laryngeal_carcinoma,laryngeal_carcinoma,161|161.9,D007822,154480006|93859007|276975007|154484002|187851007|269560007|363429002,C32,,, 5263,laryngeal_disease,laryngeal_diseases,478.70,D007818,195863001|60600009,,,, 5264,laryngeal_squamous_cell_carcinoma,,,,405822008,,,, 5265,laryngitis,laryngitis,,D007827,45913009,,,, 5266,larynx_sarcoma,,,,,,,, 5267,learning_disability,,,D007859,1855002|367332004|154974005|247576004|192531005|154973004|389991004,,,, 5268,legionellosis,,,D007876,26726000,,D007876|D007877,A48.1,195889001|26726000|269574000|312403005 5269,leiomyoma,,,D007889,189787000|189793008|189788005,,,, 5270,leiomyomatosis,,,D018231,75210008,,,, 5271,leiomyosarcoma,,,D007890,189790006|51549004|443719001,,D007890,,443719001|51549004 5272,leishmaniasis,,085.9|085,D007896,80612004|266206004|187511000|154377009|186811002,,D007896,B55,80612004 5273,lens_disease,,,D007905,194158009|194613002|10810001,H25-H28|H27|H27.8|H28.8,,, 5274,leprosy,,030.9|030,D007918,187316006|81004002|154298007|266184007|186339006,A30|A30.9,D007918,A30,81004002 5275,lesion_of_sciatic_nerve,,355.0,D020426,52585001|193144002|367137004,G57.0,,, 5276,leukemia,leukemia,208|208.9,D007938,93143009|190025005|190071003|255049003|188762002|188767008|190029004|154598008|190024009|87163000,C94.7|C95.9,,, 5277,leukocyte_disease,,288.9|288,D007960,154829002|54097007|191369001,,,, 5278,leukodystrophy,,330.0,,192785007|192781003|5101009,,,, 5279,leydig_cell_tumor,,,D007984,45002009|189739005,,,, 5280,lice_infestation,,132.9,D010373,20848007|414618002|187545007|187207005|74949007|187212006|266223008|154417001,B85.0|B85.1|B85.2,,, 5281,lichen_disease,,697.9|697,,156379005|156376003|201010002|88996004|200998004,L43.9,,, 5282,lip_cancer,,140,D008048,93869001|187625008|187626009|363374005|187599002|309808004|363348004|93762003,C00.5|C00.6,,, 5283,lipid_metabolism_disorder,lipid_metabolism_disorder,,D008052,,E71.3,,, 5284,lipid_storage_disease,lipid_storage_disease,272.8|272.7,D008064,190798009|267437005|190792005|10741005|190797004|154744007|190805007|11455007|267438000,,,, 5285,lipodystrophy,lipodystrophy,272.6,D008060,190789006|190790002|71325002,,,, 5286,lipoma,lipoma,214|214.9,D008067,93163002|254830006|154612003|189776008|254831005|254827004|189785008|189018005|115227001|46720004,,,E88.2, 5287,lipomatosis,lipomatosis,,D008068,402693001|37095002,E88.2,,, 5288,liposarcoma,liposarcoma,,D008080,49430005|254829001|189777004,,,, 5289,liposarcoma_of_the_ovary,,,,,,,, 5290,liver_cirrhosis,,,D008103,235891006|19943007|197309008|155809006|266537000,,,, 5291,liver_disease,,573.9,D008107,155822003|62857009|266535008|155807008|197551000|155817003|235856003|197375001,,,, 5292,liver_sarcoma,,,,254601002,,,, 5293,localized_ewings_sarcoma,,,,,,,, 5294,long_bone_adamantinoma,,,,189895006|307609003|56763007,,,, 5295,long_bones_of_lower_limb_cancer,,170.7,,187959005|93871001|187963003,C40.2,,, 5296,long_qt_syndrome,long_qt_syndrome,426.82,D008133,20852007|395649008|9651007,,,, 5297,lower_urinary_tract_calculus,,594|594.9,,155881007|197832004|79509009|197828005|155878002,N21,,, 5298,lung_adenocarcinoma,lung_adenocarcinoma,,C538231,254626006,,,, 5299,lung_adenoma,,,,254642004,,,, 5300,lung_benign_neoplasm,,,D008175,126713003,,,, 5301,lung_cancer,lung_cancer,162.3,,187860004|187864008|187868006|187871003|187874006|269464000|187867001|187863002|269561006|154485001|187875007,,,, 5302,lung_hilum_cancer,,,,93827000,,,, 5303,lung_large_cell_carcinoma,large-cell_lung_carcinoma,,,254629004,,,, 5304,lung_leiomyoma,,,,,,,, 5305,lung_sarcoma,,,,,,,, 5306,lung_small_cell_carcinoma,,,D055752,254632001|254633006,,,C34, 5307,lung_squamous_cell_carcinoma,squamous_cell_lung_carcinoma,,,254634000,,,, 5308,lupus_erythematosus,lupus_erythematosus,695.4,,200936003|200944003,L93,,, 5309,lymph_node_cancer,lymph_node_cancer,,,127232002,,,, 5310,lymphadenitis,lymphadenitis,,D008199,32035007|200696002|287688007|41174002|154838000|156318008|154836001|19471005|274737001,L04,,, 5311,lymphangioma,lymphangioma,228.1,D008202,254836000|189200000|93168006|189875000|154625006|253057002|400178008|69044001|269646001,D18.1,,, 5312,lymphatic_system_cancer,,,,,,,, 5313,lymphatic_system_disease,lymphatic_disease,,D008206,3305006|155452000|141342003|234087005|362971004|266326002|111590001|269044004,,,, 5314,lymphedema,lymphedema,,D008209,30213001|155485008|234097001|195486001|266334008,I89.0,,, 5315,lymphoblastic_leukemia,,204.9|204,D007945,188731001|93170002|190033006|188725004|32280000|154587007|269631008,,,, 5316,lymphopenia,lymphopenia,288.51,D008231,48813009,,,, 5317,lynch_syndrome,lynch_syndrome,,D003123,315058005,,,, 5318,lysosomal_storage_disease,lysosomal_storage_disease,,D016464,23585005,,,, 5319,macrocytic_anemia,macrocytic_anemia,,D000748,191151004|191277004|83414005|234356001,,,, 5320,macular_degeneration,macular_degeneration,,D008268,302891003|422338006,,,, 5321,macular_retinal_edema,macular_edema,,D008269,37231002,,,, 5322,malaria,malaria,084|084.6,D008288,105649009|61462000|248437004|186797008|154374002|187510004,B54|B53.1,,, 5323,male_infertility,male_infertility,606.9|606,D007248,155924001|2904007|198018002,Q98.6|Q98.7,,, 5324,male_reproductive_organ_benign_neoplasm,,,,,,,, 5325,male_reproductive_organ_cancer,,,D005834,190130007|126895004|93885006|363515000|190127000,C60-C63|C63.7,,, 5326,male_reproductive_system_disease,,600-608.99|608.9,D005832,155945008|155933004|155905004|64557000|198553004|198089001,,,, 5327,male_urethral_cancer,,,,,,,, 5328,malignant_adenofibroma,,,,,,,, 5329,malignant_choroid_melanoma,,,,255021005,,,, 5330,malignant_ciliary_body_melanoma,,,,255015006,,,, 5331,malignant_dermis_tumor,,,,255096006,,,, 5332,malignant_ependymoma,,,,,,,, 5333,malignant_fibroxanthoma,,,D051677,189772005|443439001|34360000|253040001,,D051677,,34360000|443439001 5334,malignant_gastric_germ_cell_tumor,,,,,,,, 5335,malignant_giant_cell_tumor,,,,83950009,,,, 5336,malignant_glioma,glioma,,D005910,393564001|74532006|416500007|189926000|189909006|269505000|115240006|189908003,,,, 5337,malignant_hypertension,malignant_hypertension,,D006974,70272006|155301003|286951002,,,, 5338,malignant_iris_melanoma,,,,255012009,,,, 5339,malignant_leptomeningeal_tumor,,,,,,,, 5340,malignant_leydig_cell_tumor,,,,77870005,,,, 5341,malignant_melanocytic_neoplasm_of_the_peripheral_nerve_sheath,,,,253095007|404039004|253094006,,,, 5342,malignant_mesenchymoma,,,C535700,89623007,,,, 5343,malignant_mesothelioma,,,,62064005,C45|C45.9,D008654,C45,62064005 5344,malignant_ovarian_surface_epithelial_stromal_neoplasm,,,,,,,, 5345,malignant_peripheral_nerve_sheath_tumor,malignant_peripheral_nerve_sheath_tumor,,D018317,404037002|19897006|134324009,,,, 5346,malignant_pineal_area_germ_cell_neoplasm,,,,277508009,,,, 5347,malignant_pleural_mesothelioma,,,,187878009|254645002|109373004,C45.0,,, 5348,malignant_secondary_hypertension,,405.0,,194784007|89242004|49863005,I15,,, 5349,malignant_teratoma,,,D013724,189847002|19467007,,,, 5350,malignant_tumor_of_extragonadal_non_seminomatous_germ_cell,,,,,,,, 5351,marginal_zone_b_cell_lymphoma,,,,,,,, 5352,mast_cell_neoplasm,,,,414653009|190021001|127581004|89796001,,,, 5353,mastitis,mastitis,611.0,D008413,266644004|155955007|198110007|155952005|198099006|266579006|266641007|45198002,N61,,, 5354,mature_b_cell_neoplasm,,,,,,,, 5355,mature_t_cell_and_nk_cell_neoplasm,,,,,,,, 5356,mature_teratoma,,,D013724,55818009|42717009,,,, 5357,mature_teratoma_of_the_ovary,,,,,,,, 5358,maxillary_sinus_cancer,,160.2,,93889000|363425008,C31.0,,, 5359,maxillary_sinus_neoplasm,,,D008444,126676009,,,, 5360,mechanical_strabismus,,378.60|378.6,D013285,194124001|5371001|194121009,H50.6,,, 5361,mediastinal_cancer,,,D008479,190097009|363494000|93891008|187889002|126725000|94147001,,,, 5362,mediastinal_malignant_lymphoma,,,,,,,, 5363,mediastinal_neurilemmoma,,,,,,,, 5364,mediastinal_neurogenic_neoplasm,,,,,,,, 5365,mediastinitis,mediastinitis,519.2,D008480,47597000,,,, 5366,mediastinum_sarcoma,,,,,,,, 5367,medulloblastoma,medulloblastoma,,D008527,189921005|83217000|443333004,,D008527,,443333004|83217000 5368,megacolon,megacolon,,D008531,197138002|197144003|33995003,K59.3,,, 5369,melanoma,melanoma,,D008545,269577007|269503007|2092003|154501005|189749008|372244006,D03.9,,, 5370,melanotic_neurilemmoma,,,,253088003|404024000|985004,,,, 5371,menieres_disease,menieres_disease,386.00|386.0,D008575,194346003|13445001|194358003|155235002|194347007|194352002,,D008575,H81.0,13445001 5372,meningeal_melanoma,,,,,,,, 5373,meninges_sarcoma,,,,78303004|277996009,,,, 5374,meningioma,meningioma,,D008577,154621002|189945009|189940004|134307003|127579001|126965008|269643009|393566004|189941000|302820008,,D008579,D32.9,19453003 5375,meningitis,meningitis,322.9|322,D008581,192678004|192681009|154983000|7180009,G03|G03.8|G03.9,,, 5376,mental_depression,,,D003863,154963001|307537002,,,, 5377,mesenchymal_cell_neoplasm,,,,,,,, 5378,mesenchymal_chondrosarcoma,,,D018211,56565002,,,, 5379,mesenchymoma,,,D008637,189809007|44524009,,,, 5380,metal_metabolism_disorder,,,D008664,,,,, 5381,metaphyseal_dysplasia,,,,,,C536252,Q78.5, 5382,methylmalonic_acidemia,,,,,,,E71.1, 5383,microcytic_anemia,,,,267553005|154787005|234349007,,,, 5384,microglandular_adenosis,,,D005348,270893004,,,, 5385,microsporidiosis,,,D016881,61842000|78142009|65883009,,D016881,B60.8,61842000 5386,middle_ear_carcinoma,,,,,C30.1,,, 5387,middle_ear_disease,,,,300195001|68996008|232250008|194327004|155260002,,,, 5388,migraine,,,D008881,155048007|193036004|267699004|37796009|155046006|193030005|193041007,,,, 5389,migraine_with_aura,migraine_with_aura,346.0,D020325,155047002|4473006,,,, 5390,miliaria,miliaria,,D008883,201411009|63951004|201196009,L74.3,,, 5391,mineral_metabolism_disease,,,,,E83|E83.8,,, 5392,mite_infestation,,133|133.9,D008924,187214007|187217000|78166003|154422001|266224002|240885009,,,, 5393,mitochondrial_encephalomyopathy,,,D017237,,,,, 5394,mitochondrial_metabolism_disease,,,D028361,,,,, 5395,mitral_valve_disease,,424.0,,11851006|194982000|194729004,I05.9|I39.0,,, 5396,mixed_cell_type_cancer,,,D018198,8145008|189802003,,,, 5397,mixed_epithelial_tumor_of_ovary,,,,254855000,,,, 5398,mixed_germ_cell_cancer,,,,189853002|32844007,,,, 5399,mixed_glioma,,,D005910,443937008|22217002,,,, 5400,mixed_type_thymoma,,,,128709000,,,, 5401,monocytic_leukemia,monocytic_leukemia,206.8,,188749001|190062007|190160002|188747004,C93,,, 5402,mononeuritis,mononeuritis,355.9,D020422,267600005|193155002|32595002,,,, 5403,mononeuritis_of_lower_limb,,355.8|355,,155075000|62235007|193154003,,,, 5404,mononeuritis_of_upper_limb_and_mononeuritis_multiplex,,354,,155072002|193125009,,,, 5405,mononeuropathy,mononeuropathy,,D020422,304595001|128189008,G59|G56.9|G57.9|G58.8|G58.9,,, 5406,mood_disorder,mood_disorder,296.7,,,F30-F39|F39|F38.8,,, 5407,motion_sickness,motion_sickness,994.6,D009041,157749008|212974006|269278001|212973000|37031009,T75.3,,, 5408,motor_neuritis,,,D009443,95663000,,,, 5409,motor_neuron_disease,motor_neuron_disease,335.2,D016472,192889009|192888001|37340000|192890000|155015007,G12.2,,, 5410,mouth_disease,mouth,,D009059,155630004|266484002|118938008,,,, 5411,movement_disease,,,D009069,60342002,,,, 5412,mucinoses,mucinoses,,D017520,11528001,,,, 5413,mucopolysaccharidosis,mucopolysaccharidosis,277.5,D009083,190942001|190936000|11380006|267452003,E76.3,,, 5414,multifocal_osteogenic_sarcoma,,,,,,,, 5415,multiple_carboxylase_deficiency,multiple_carboxylase_deficiency,,D009100,,,D009100,E53.8, 5416,multiple_myeloma,multiple_myeloma,203.0,D009101,109989006|154585004|55921005|94705007,C90.0,D009101|C531616,E85.0|E85.1|E85.2|E85.3|C90.0|E85.8,109989006|55921005|23132008 5417,multiple_sclerosis,multiple_sclerosis,340,D009103,24700007|192928003|192930001|155023009,G35,,, 5418,multiple_system_atrophy,multiple_system_atrophy,,D012791,230297002|16576004,,D019578|D012791,G90.3,230297002|16576004 5419,muscle_tissue_disease,,,,,,,, 5420,muscular_dystrophy,muscular_dystrophy,359.1,D009136,44292004|267712004|193236007|155095006|193225000|73297009|193257004,G71.0,,, 5421,myasthenia_gravis,myasthenia_gravis,358.0,D009157,193208002|155092009|91637004,G70.0,D009157,G70.0,91637004 5422,myelodysplastic_myeloproliferative_cancer,myelodysplastic-myeloproliferative,,D054437,397336008,C94.6,,, 5423,myelofibrosis,myelofibrosis,238.76,D055728,267572005|307651005|188773009|22265001|128843003|78956007|52967002|154841009,,,D47.4, 5424,myeloid_leukemia,myeloid_leukemia,205|205.9,D007951|D015473,190047005|37810007|188743000|94717009|128934006|188732008|154587007|324170002|269631008,C92|C92.7,,, 5425,myeloma,myeloma,,,,,,, 5426,myiasis,myiasis,134.0,D009198,187224004|187547004|60412004|266225001|154423006,B87|B87.9,D009198,B87,60412004 5427,myocardial_infarction,myocardial_infarction,,D009203,266288001|155304006|22298006|233824008|194796000|66514008,,,, 5428,myocarditis,myocarditis,429.0,D009205,195119007|155380004|251060004|50920009,,,, 5429,myopathy,myopathy,359.9,D009135,155099000|75047002|203845002|52794005|268103006|267714003|129565002|203833006|155094005|267711006,,,, 5430,myopathy_of_extraocular_muscle,,376.82,,57130002,,,, 5431,myopia,,367.1,D009216,155133003|57190000,,,, 5432,myositis,myositis,,D009220,268108002|26889001|203110007|128496001,M60|M60.9|M63.2,,, 5433,myotonic_disease,,359.2,D020967,193237003|193240003|155096007|267713009,G71.1,,, 5434,myotonic_dystrophy,myotonic_dystrophy,,D009223,77956009|155096007|267713009,,C538008,G71.1,77956009 5435,myxoid_chondrosarcoma,,,,75622000|189881008,,,, 5436,nail_disease,nail_disease,703|703.9,D009260,17790008|201127007|267861009|156401005,L60|L62|L60.9|L62.8,,, 5437,nasal_cavity_cancer,,160.0,,363422006|93917007|187832001,C30.0,,, 5438,nasal_cavity_neoplasm,,,,126670003,,,, 5439,nasopharyngeal_disease,,,D009302,123952009,,,, 5440,necrotic_uveal_melanoma,,,,,,,, 5441,neonatal_anemia,,,D000751,33130007|276577009|111468003|234350007,,,, 5442,neonatal_jaundice,neonatal_jaundice,,D007567,31482007|387712008|111470007|206474007|30235009|276549000|299968002,P58|P58.0|P58.1|P58.2|P58.3|P58.4|P58.5|P58.8,,, 5443,neonatoal_period_electroclinical_syndrome,,,,,,,, 5444,nephroblastoma,nephroblastoma,,D009396,25081006|31470003|302849000,,,, 5445,nephrotic_syndrome,nephrotic_syndrome,581,D009404,197611005|155851004|52254009,N04|N04.9,,, 5446,nerve_compression_syndrome,nerve_compression_syndrome,,D009408,155085004|45781009,,,, 5447,nerve_plexus_neoplasm,,,,,,,, 5448,nervous_system_cancer,nervous_system_neoplasm,,D009380,188306000,,,, 5449,nervous_system_disease,nervous_system_disease,349.9,D009422,192641002|155262005|286946008|154981003|267679005|118940003,06|G90-G99|G98|G99|G99.8,,, 5450,neurilemmoma,neurilemmoma,,D009442,189948006|985004|404022001,,,, 5451,neuritis,neuritis,,D009443,128192007|123254001|84299009|247378004|203116001,,,, 5452,neuroacanthocytosis,neuroacanthocytosis,,,,,,, 5453,neuroblastoma,neuroblastoma,,D009447,432328008|87364003|269507008|189931003,,C536408|D009447,C47,432328008|87364003 5454,neuroendocrine_tumor,,209-209.99|209,D018358,255046005|128928004,,,, 5455,neurofibroma,neurofibroma,,D009455,89084002|404029005|134214003|189947001|115242003,,,, 5456,neuroma,neuroma,,D009463,189950003|443892003|274089002|25169009|154622009,,,, 5457,neuromuscular_disease,neuromuscular_disease,358|358.9,D009468,1664005|255522009|257277002|193218007,N31.9,,, 5458,neuromuscular_junction_disease,neuromuscular_junction,,D020511,128213006,,,, 5459,neuronal_ceroid_lipofuscinosis_2,neuronal_ceroid_lipofuscinosis,,D009472,42012007,,D009472,E75.4,42012007 5460,neuropathy,neuropathy,,,264554005|277317008|386033004|277878001|42658009|193167000,,,, 5461,neutropenia,neutropenia,288.00|288.0,D009503,303011007|142928004|191336001|165517008|72885007,,,, 5462,night_blindness,night_blindness,368.60|368.6,D009755,65194006|193686009|155144006|193693008|75390007,H53.6,,, 5463,nipple_neoplasm,,,,,,,, 5464,nodular_ganglioneuroblastoma,,,,,,,, 5465,non_functioning_pancreatic_endocrine_tumor,,,C536126,,,,, 5466,non_langerhans_cell_histiocytosis,,,D015616,127069007,,,, 5467,non_proliferative_fibrocystic_change_of_the_breast,,,,,,,, 5468,non_small_cell_lung_carcinoma,non-small-cell_lung_carcinoma,,D002289,254637007,,,, 5469,non_suppurative_otitis_media,,381.4,,275481002|194260003|45935001|194265008|267753007,H65,,, 5470,noninfectious_dermatoses_of_eyelid,,373.3,,193919009|111524003,H01.1,,, 5471,nonsyndromic_deafness,nonsyndromic_deafness,,,,,,, 5472,nose_disease,nose_diseases,,D009668,89488007,J33.9,,, 5473,nosophobia,nosophobia,,,,,,, 5474,nutritional_deficiency_disease,nutritional_deficiencies,,D003677,,D53.9|E63.8|E63.9,,, 5475,obesity,obesity,278.00,D009765,154776002|414916001|5476005|190963004|414915002,E66|E66.0|E66.9,,E66.8, 5476,obstructive_lung_disease,obstructive_lung_disease,,D008173,,,,, 5477,occlusion_precerebral_artery,,433.3|433|433.9,,,,,, 5478,ocular_hypotension,,360.3|360.30,D015814,193283009|23670006|193280007|19721008,H44.4,,, 5479,ocular_motility_disease,,378.9,D015835,45030009,,,, 5480,olfactory_nerve_neoplasm,,,,126967000,,,, 5481,olfactory_neuroblastoma,,,D018304,76060004|422886007|189938009|189937004|68614005,,,,76060004 5482,oligodendroglioma,oligodendroglioma,,D009837,189920006|443936004|73348003,,,, 5483,oligohydramnios,oligohydramnios,658.0,D016104,156190009|59566000|199652007|157051001|199656005,O41.0,,, 5484,open_angle_glaucoma,,365.13|365.1|365.10,D005902,111513000|193539001|84494001|193543002|46168003|193538009,H40.1,,, 5485,ophthalmoplegia,ophthalmoplegia,,D009886,78097002|267745004|155196009|16110005,H49.3,,, 5486,opiate_dependence,opiate_dependency,304.0|304.00,D009293,191818005|75544000|192220003|191817000,,,, 5487,opportunistic_bacterial_infectious_disease,,,,,,,, 5488,opportunistic_mycosis,,118,,187108005|78999002,B48.7,,, 5489,optic_atrophy,optic_atrophy,377.10|377.1,D009896,194046007|155188004|267742001|194042009|76976005,H47.2|H48.0,,, 5490,optic_nerve_astrocytoma,,,,,,,, 5491,optic_nerve_disease,optic_nerve,,D009901,312964007|194037001|267741008|77157004|82108004,,,, 5492,optic_nerve_glioma,optic_nerve_glioma,,D020339,254976006|404662003,,,, 5493,optic_nerve_neoplasm,,,D019574,395505000|254971001|126968005,,,, 5494,optic_neuritis,optic_neuritis,377.3|377.30,D009902,66760008|267743006|194051001|194052008|194054009|155189007,H46,,, 5495,optic_papillitis,optic_papillitis,377.31,C537165|D010211,73221001,,,, 5496,oral_cavity_cancer,,144|144.9,,363385007|93860002|187652003|93672006|187656000|93802007|187653008,C04|C04.0|C04.1,,, 5497,orbit_rhabdomyosarcoma,,,C537605,254994000,,,, 5498,orbital_cancer,,,D009918,188270008|127003006|363462005|93932000,C69.6,,, 5499,orbital_disease,orbital_diseases,376.9|376,D009916,155200004|194036005|11270005|267746003,H05|H05.8|H06.3,,, 5500,organic_acidemia,organic_acidemia,,,,F00-F09,,, 5501,orofacial_cleft,orofacial_cleft,,,,,,, 5502,oropharynx_cancer,,146|146.9,,363392002|187691008|187686007|373653002|93933005|93862005|93971002|187688008,C10.2|C10.3,,, 5503,osteochondrodysplasia,osteochondrodysplasia,756.4,,205539001|105985007|67988000|205510001|240190009|268350005,Q77|Q77.9|Q78.8|Q78.9,,, 5504,osteochondrosis,osteochondrosis,,D055034,123256004|65477003|268125000|19579005|156822009|203398006,,,, 5505,osteomyelitis,osteomyelitis,730.10|730.1,D010019,156800002|203183003|203181001|156791003|40970001|203205002,M86|M86.9,,, 5506,osteosarcoma,osteosarcoma,,D012516,189878003|21708004|408387006|307576001,,D012516,C40|C41,21708004 5507,osteosclerosis,osteosclerosis,,D010026,49347007,,,Q78.2, 5508,otitis_externa,otitis_externa,380.10|380.1,,194214000|194199003|86981007|194198006|267752002|3135009,H60|H60.2|H62.4,,, 5509,otitis_media,otitis_media,382.9,D010033,155222006|267669008|194291009|65363002,,,, 5510,otomycosis,otomycosis,,,,,,, 5511,otosalpingitis,,381.5|381.50,,270491006|35349000|194270001|194267000|194266009,H68.0|H69.9,,, 5512,ovarian_benign_neoplasm,,,,,,,, 5513,ovarian_cancer,ovarian_cancer,,D010051|C538090,93934004|363443007|154528000|372117006|123843001,,,D27, 5514,ovarian_carcinosarcoma,,,,,,,, 5515,ovarian_clear_cell_adenofibroma,,,,,,,, 5516,ovarian_cyst,ovarian_cyst,620.2,,198586000,,,, 5517,ovarian_cystadenocarcinoma,,,,314191009,,,, 5518,ovarian_cystadenoma,,,,198297004,,,, 5519,ovarian_disease,ovarian_diseases,256.39|256.3,D010049,5552004|267399006|190543001|190548005,,,, 5520,ovarian_embryonal_carcinoma,,,,254872007,,,, 5521,ovarian_endodermal_sinus_tumor,,,,254876005,,,, 5522,ovarian_endometrioid_adenofibroma,,,,,,,, 5523,ovarian_mucinous_adenofibroma,,,,,,,, 5524,ovarian_mucinous_neoplasm,,,,189683008,,,, 5525,ovarian_papillary_neoplasm,,,,189683008|253023005,,,, 5526,ovarian_primitive_germ_cell_tumor,,,,,,,, 5527,ovarian_serous_adenofibroma,,,,,,,, 5528,ovarian_small_cell_carcinoma,,,,,,,, 5529,ovary_adenocarcinoma,,,,,,,C56, 5530,ovary_epithelial_cancer,,,,237057005,,,, 5531,ovary_sarcoma,,,,423627007,,,, 5532,ovary_serous_adenocarcinoma,,,,,,,, 5533,overnutrition,overnutrition,277.6,,190943006,,,, 5534,palmoplantar_keratosis,palmoplantar_keratosis,,D007645,28596004|205584004,,,, 5535,pancoast_tumor,,,D010178,80367008|154486000|269562004|254638002|187860004|278065000,,,, 5536,pancreas_adenocarcinoma,,,,,,,, 5537,pancreas_disease,,577.8,D010182,197566002,K86.8|K87.1,,, 5538,pancreatic_cancer,,,D010190|C535837,94082003|269554007|93715005|154478000|126859007|269553001|269555008|154476001|187796007|154477005|93823001|187792009|187791002|363419009|372142002|93938001|154475002|255089009,C25.0|C25.1|C25.2,D010190|C535837,C25,372142002 5539,pancreatic_colloid_cystadenocarcinoma,,,,,,,, 5540,pancreatic_cystadenocarcinoma,,,,235966007,,,, 5541,pancreatic_cystadenoma,,,,235967003,,,, 5542,pancreatic_delta_cell_neoplasm,,,,,,,, 5543,pancreatic_ductal_adenocarcinoma,,,,,,,, 5544,pancreatic_intraductal_papillary_colloid_carcinoma,,,,,,,, 5545,pancreatic_intraductal_papillary_mucinous_neoplasm,,,,,,,, 5546,pancreatitis,pancreatitis,,D010195,197461009|393591004|75694006,,,, 5547,panniculitis,panniculitis,729.30|729.3,D015434,203120002|268012006|268122002|156779007|203119008|22125009|203122005,M79.3,,, 5548,panuveitis,,360.12,D015864,75614007,,,, 5549,papillary_adenocarcinoma,papillary_adenocarcinoma,,D000231,64524002|189621008|4797003,,,, 5550,papillary_conjunctivitis,,,,416878008,,,, 5551,papillary_thyroid_carcinoma,papillary_thyroid_carcinoma,,C536915,4797003|255029007,,,, 5552,papilledema,papilledema,377.00|377.0,D010211,194038006|248487006|111526001|155187009|423341008|194041002,H47.1,,, 5553,papilloma,papilloma,,D010212,82049002|23730008|189564006,,,, 5554,parachordoma,,,,404086000|128786009,,,, 5555,paralytic_poliomyelitis,,,,,,,, 5556,paralytic_squint,paralytic_strabismus,378.50|378.5,,12942001|194117002|400942002|194120005,H49|G83.8|G83.9|H49.9,,, 5557,paranasal_sinus_cancer,,,,,C31,,, 5558,paranasal_sinus_disease,paranasal_sinuses,,D010254,7393007,,,, 5559,paraphilia_disorder,,,,,,,, 5560,paraplegia,paraplegia,344.1,D010264,155031004|60389000,G82.2,,, 5561,parasitic_ectoparasitic_infectious_disease,,,D004478,,,,, 5562,parasitic_helminthiasis_infectious_disease,,128.9|120-129.99,D006373,154410004|27601005|187189004|187542005|266219000|187518006,,,, 5563,parasitic_ichthyosporea_infectious_disease,,,,,,,, 5564,parasitic_protozoa_infectious_disease,,,D011528,95896000|187247003|240627001|187517001|89933001|367372008|187502000,,,, 5565,paratesticular_lipoma,,,,,,,, 5566,parathyroid_adenoma,parathyroid_adenoma,,D010282,128474007,,,, 5567,parathyroid_gland_disease,,252.9|252,D010279,267478007|73132005|190462000,,,, 5568,parotid_disease,,,D010305,,,,, 5569,partial_central_choroid_dystrophy,,363.53,,80526002|193468002,,,, 5570,pathologic_nystagmus,,379.50,D009759,194172000|194171007|563001,,,, 5571,pediatric_fibrosarcoma,,,,,,,, 5572,pediatric_germ_cell_cancer,,,,,,,, 5573,pediatric_osteosarcoma,,,,,,,, 5574,pediatric_ovarian_germ_cell_tumor,,,,,,,, 5575,pediatric_testicular_germ_cell_tumor,,,,,,,, 5576,pelvic_inflammatory_disease,pelvic_inflammatory_disease,614.9|614-616.99,D000292,198130006|266584000|266651008|198244005|155986001|155974004|155967009|266648001|198178006|37518008|198570007|155968004|198131005,N74|N73.8|N74.8,,, 5577,pelvic_varices,,456.5,,17406005|195481006|266271008,I86.2,,, 5578,penile_cancer,,187.3,,363516004|188231002|93954003|188230001|93716006|269605006|154536009,C60.2,,, 5579,penile_disease,penile_disease,607.89|607.8,D010409,198558008,,,, 5580,penis_carcinoma,,,,372106005,,,, 5581,penis_squamous_cell_carcinoma,,,,403468003,,,, 5582,penis_verrucous_carcinoma,,,,,,,, 5583,peptic_ulcer,peptic_ulcer,533,D010437,155710009|196697002|266437002|155701001|196705008|266501005|196681007|13200003|196704007,,,, 5584,periapical_periodontitis,periapical_periodontitis,,D010485,39273001,,,, 5585,pericardial_effusion,pericardial_effusion,,D010490,373945007|70370001,I31.3,,, 5586,pericarditis,pericarditis,,D010493,3238004,I32|I32.8,D010493,I30|I31.0|I31.1,3238004|23627006 5587,pericardium_cancer,,,,93957005|126734005|94997003|187884007,,,, 5588,perichondritis_of_auricle,,380.00|380.0,,34129005|194194008|155210008|194197001,,,, 5589,perineurioma,,,D018317,128795001|404036006,,,C47.9,128795001|404036006 5590,periodontal_disease,periodontal_disease,,D010510,13877006|196354003|2556008,K05.6,,, 5591,periodontitis,periodontitis,,D010518,266491004|41565005|155648008,K05.3,,, 5592,periostitis,periostitis,,D010522,41910004,M90.1,,, 5593,peripheral_nerve_schwannoma,,,,,,,, 5594,peripheral_nervous_system_disease,peripheral_nervous_system_diseases,350-359.99,D010523,155080009|193088006|302226006|42658009|155064004|267706009|193264002|155100008|264554005,G64,,, 5595,peripheral_nervous_system_ganglioneuroblastoma,,,,,,,, 5596,peripheral_nervous_system_neoplasm,,,D010524,126980002|134214003|115242003|189953001|189946005,,,, 5597,peripheral_neuroblastoma,,,,254764001,,,, 5598,peripheral_neuropathy,peripheral_neuropathy,,,,,,, 5599,peripheral_osteosarcoma,,,,,,,, 5600,peripheral_primitive_neuroectodermal_tumor,,,D012512,128783001|254764001|253096008|134210007|73676002|76909002|73506006,,D018241,C40|C41,76909002|253096008|55045006 5601,peripheral_retinal_degeneration,,362.60|362.6,,193393004|405721006|61536007|193398008|193394005|95704002,H35.4|I73.9,,, 5602,peripheral_vascular_disease,peripheral_vascular_disease,443.81,,195624006,I73.8,,, 5603,peripheral_vertigo,,386.19|386.1,,194359006|194692006|194353007,,,, 5604,peritoneal_benign_neoplasm,,,,,,,, 5605,peritoneal_serous_adenocarcinoma,,,,,,,, 5606,peritoneum_cancer,,158.8,,187816004|187808008,,,, 5607,peritonitis,peritonitis,567.89|567.8,,197187000|197183001,K65|K65.9,,, 5608,perivascular_tumor,,,,,,,, 5609,peroxisomal_disease,,277.86,D018901,238059005,,,, 5610,personality_disorder,personality_disorder,301.89|301.8,,268635005|191776009|191770003|268759009,F60|F60.9,,, 5611,pertussis,pertussis,,D001885,26484003,A37|A37.0|A37.1|A37.8,D014917,A37,27836007 5612,pervasive_developmental_disorder,pervasive_developmental_disorder,299.80,,,F84,,, 5613,phacogenic_glaucoma,,365.59,,84333006,,,, 5614,phagocyte_bactericidal_dysfunction,phagocyte_bactericidal_dysfunction,,D010585,,,,, 5615,phimosis,phimosis,,D010688,155921009|266571009|198007002|198005005|52743003|198006006,,,, 5616,phlebitis,phlebitis,,D010689,195432009|61599003,I80.3,,, 5617,phobic_disorder,phobic_disorders,300.20|300.2,D010698,191734001|268630000|191720001|192398000|52039009|191721002|192393009|386810004|386808001|154884005|65673007,F40.9,,, 5618,phosphorus_metabolism_disease,,275.3,D010760,154752005|190862008|267505006|87049008|190858002,,,, 5619,photosensitivity_disease,,,D010787,22649008,,,, 5620,physical_disorder,physical_disorder,,,,,,, 5621,pigmentation_disease,,709.09,,,L81|L81.8,,, 5622,pineal_gland_cancer,,,D010871,359619007|127026004|93962006|47598005|363483004,C75.3,,, 5623,pineal_region_teratoma,,,,,,,, 5624,pineoblastoma,pineoblastoma,,D010871,31671006,,,, 5625,pituitary_adenoma,pituitary_adenoma,,D010911,154621002|128664001|189178001|254956000|269643009|367095008,,,, 5626,pituitary_cancer,,,D010911,127024001|93964007|363482009|128665000|254955001,C75.1,,C75.1, 5627,pituitary_gland_disease,pituitary_disease,253.1,D010900,,,,, 5628,pituitary_infarct,,,,95830009,,,, 5629,placenta_disease,placenta_diseases,646.9,D010922|D011248,198881004|267311008|156097009|125586008|267314000|267293009|173300003|23288008|156069003|156123001|199152008|90821003|172422001|156131006,,,, 5630,placenta_praevia,placenta_praevia,,D010923,36813001|198930005|157059004,O44|O44.1,,, 5631,plague,plague,020.9|020,D010930,58750007|187298009|186290009,A20|A20.9,D010930|D015009,A20,58750007|83436008 5632,plasma_cell_neoplasm,plasma_cell_neoplasm,,D010265,277576009|71390001,,,, 5633,plasma_protein_metabolism_disease,,273.8,,190822009|190825006,E88.0,,, 5634,plasmacytoma,plasmacytoma,,D010954,188720009|189507001|190019006|269652000|415112005|188719003|154644004|10639003|302852008|109987008|190017008|308122007|190016004|274907000,C90.3,D010954,C90.2,10639003|415112005 5635,pleomorphic_rhabdomyosarcoma,,,,77455004|404054005,,,C49.9, 5636,pleural_cancer,,163|163.9,,363433009|93966009|187880003,C38.4,,, 5637,pleural_empyema,pleural_empyema,510,D004653,312682007|66696003|196058009|196074004,J86|J86.0|J86.9,,, 5638,pleurisy,pleurisy,511.8,,,R09.1,,, 5639,pneumoconiosis,pneumoconiosis,505,D011009,266401007|155591007|196004000|155587002|196016006|40122008,J61|J62|J63|J64|J62.0|J62.8|J63.8,,, 5640,pneumonia,pneumonia,,D011014,205237003|155552002|266391003|155548002|155558003|274103002|60363000|233604007,J13|J14|J16|J17|J69|J15.0|J15.1|J15.2|J15.3|J15.4|J15.5|J15.6|J15.7|J16.8|J17.8|J18.9|J69.0|J69.1|J69.8,,, 5641,pneumothorax,pneumothorax,512.8,D011030,266367007|196103008|196251008|196105001,J93|J93.9,,, 5642,poliomyelitis,poliomyelitis,045.9|045,D011051,186481004|54839009|398256009|186475007|187390004|398102009|367318001|266189002|154320008,,D011051,A80,398102009 5643,polyarteritis_nodosa,polyarteritis_nodosa,446.0,D010488,195347004|155445002|155441006|286960005|66121003|266323005,M30.0,D010488,M30.0,155441006 5644,polycythemia,polycythemia,,D011086,165401000|109992005|44865000|127062003,,,, 5645,polyneuropathy,polyneuropathy,,D011115,42345000|193166009|155080009|193204000|194530007|307326004|267706009,G63|G62.2|G62.8|G62.9|G63.8,,, 5646,polyradiculoneuropathy,polyradiculoneuropathy,,D011129,128078004,,,, 5647,polyradiculopathy,polyradiculopathy,,D011128,75572007,,,, 5648,porphyria,porphyria,277.1,D011164,86292002|29094004|238052001|418470004|371628009|190912004|190916001|154768004|274090006,,,, 5649,posterior_cranial_fossa_meningioma,,,,,,,, 5650,posterior_pituitary_gland_neoplasm,,,,,,,, 5651,postgastrectomy_syndrome,,564.2,D011178,197126006|80193009|197129004|155785007|197128007|266527005,K91.1,,, 5652,pre_eclampsia,pre-eclampsia,,D011225,308551004|156112000|199011002|288201007|30354006|48194001|267306006|46764007|6758009|398254007|237280005|267307002|156109003|198979002|198972006|198969004|15394000|156106005,O13|O14,,O14|O11, 5653,pre_malignant_neoplasm,,,,,,,, 5654,precursor_lymphoblastic_lymphoma_leukemia,,,,,,,, 5655,precursor_t_lymphoblastic_lymphoma_leukemia,,,,,,,, 5656,primary_angle_closure_glaucoma,,365.2|365.20,,270882001|42456004|193547001|193545009|392288006|193544008|155123006,,,, 5657,primary_bacterial_infectious_disease,,,,,,,, 5658,primary_systemic_mycosis,,,,,,,, 5659,primitive_neuroectodermal_tumor,,,D018242,189925001|39781001,,,, 5660,prion_disease,prion_disease,,D017096,20484008|230284004|193172009,G93|G94|G80.9|G93.8|G94.8|I63.9,,A81, 5661,progressive_myoclonus_epilepsy,progressive_myoclonus_epilepsy,,D020191,267581004|192844008|89480000,,,, 5662,progressive_peripheral_pterygium,,372.42,,48480005|193881001,,,, 5663,prolapse_of_female_genital_organ,,618.89|618.8,,,,,, 5664,proliferative_type_fibrocystic_change_of_breast,,,,35813005,,,, 5665,prolymphocytic_leukemia,prolymphocytic_leukemia,,D015463,110006004|10300002|128923008,,,, 5666,prostate_adenocarcinoma,prostate_adenocarcinoma,,,399490008,,,, 5667,prostate_cancer,prostate_cancer,,C537243|D011471,126906006|399068003|363448003|93974005|154531004|254900004,C61,C537243,C61, 5668,prostate_disease,prostate,602.9,D011469,197979000|30281009,N42|N42.8|N51.0,,, 5669,prostate_rhabdomyosarcoma,,,,,,,, 5670,prostate_sarcoma,,,,,,,, 5671,prostatic_hypertrophy,prostatic_hypertrophy,,,,,,, 5672,prostatic_urethral_cancer,,,,,,,, 5673,prostatitis,prostatitis,601|601.9,D011472,9713002|155911001|266637008|197962006|155907007|197971002,,,, 5674,protein_energy_malnutrition,protein-energy_malnutrition,263.9,D011502,272588001|190608007|238105005|238107002|267411007|72608005|273491005,E46,,, 5675,proteinuria,proteinuria,791.0,D011507,236719005|207310001|144515004|158568007|232691000|29738008|158565005|167279003|207315006,,,, 5676,pseudohypoparathyroidism,pseudohypoparathyroidism,,D011547,267479004|278716000|58976002|58833000|123057000|154697005|190867002,E20.1,,, 5677,pseudosarcomatous_fibromatosis,subcutaneous_pseudosarcomatous_fibromatosis,,,35548007|156729009|47284001|203057005|268106003|400138001,M72.4,,, 5678,psoriasis,psoriasis,696.5,,,L40|L40.9,,, 5679,psychosexual_disorder,psychosexual_disorder,302.79,,,F66.9,,, 5680,psychotic_disorder,,298.8,,,,,, 5681,pterygium,,,D011625,,,,, 5682,pulmonary_blastoma,pulmonary_blastoma,,D018202,189815007|43149009,,,C34, 5683,pulmonary_embolism,pulmonary_embolism,,D011655,194882001|155326007|59282003|266292008,I26|I26.0|I26.9,,, 5684,pulmonary_emphysema,,492.8,D011656,195962007|266357002|196230005|195965009,,,, 5685,pulmonary_eosinophilia,,518.3,D011657,367542003|196147002|91053000|155623005|196145005,J82,,, 5686,pulmonary_fibrosis,pulmonary_fibrosis,,D011658,51615001|196121006|155613001,,,, 5687,pulmonary_large_cell_neuroendocrine_carcinoma,,,,128628002,,,, 5688,pulmonary_neuroendocrine_tumor,,,,,,,, 5689,pulmonary_valve_disease,,424.3,,195001000|76267008,I37|I39.3,,, 5690,pulmonary_valve_stenosis,pulmonary_valve_stenosis,,D011666,56786000,I37.0|I37.2,D011666,Q22.1,56786000 5691,pupil_disease,,,D011681,68633000,,,, 5692,purine_pyrimidine_metabolic_disorder,,277.2,D011686,191109006|267450006|190922005|190917005,,,, 5693,purpura,purpura,,D011693,267564008|387778001|118653003|154822006|12393003|191313005|423902002|246989006,,,, 5694,purulent_endophthalmitis,,360.00|360.0,,41720003|193267009|193271007,H44.0,,, 5695,pyelitis,pyelitis,,D011702,197780007|27174002,,,, 5696,pyelonephritis,pyelonephritis,590.80,D011704,45816000|197779009|197784003,,,, 5697,pyloric_stenosis,pyloric_stenosis,,D011707,367403001,,,, 5698,pylorus_cancer,,151.1,,187736009|269527009|154448009|187739002,C16.4,,, 5699,pyoderma,pyoderma,686.00|686.0,D011711,70759006|200719000|156323008|267838007,L08.0,,, 5700,radial_neuropathy,radial_neuropathy,,D020425,16644004,,,, 5701,reading_disorder,,315.09,,,F81.0,,, 5702,rectal_disease,rectal_diseases,,D012002,5964004,,,, 5703,rectal_neoplasm,rectal_neoplasms,,D012004,126847008,,,, 5704,rectosigmoid_junction_cancer,,154.0,,363414004,C19,,, 5705,rectum_adenocarcinoma,,,,254582000,,,, 5706,rectum_cancer,,,D012004,154466004|93984006|187761007|269545009|363351006|254582000,C20,,, 5707,rectum_sarcoma,,,,,,,, 5708,rectum_squamous_cell_carcinoma,,,,,,,, 5709,recurrent_hypersomnia,,327.13,D006970,426451004,,,, 5710,reflex_epilepsy,reflex_epilepsy,,D020195,79745005,,D020195,G40.8,79745005 5711,refractive_error,refractive_error,,D012030,21324001|314027003|39021009|267723000,H52.6,,, 5712,refractory_hematologic_cancer,,,,,,,, 5713,relapsing_fever,relapsing_fever,087|087.9,D012061,186822003|420079008|46107006|186820006|187374004,A68|A68.9,D012061,A68,420079008 5714,renal_adenoma,,,,41627005,,,, 5715,renal_cell_carcinoma,,,D002292,254915003|41607009,,,, 5716,renal_hypertension,,,D006977,28119000|194775007,,,, 5717,renal_infectious_disease,,590|590.9,,155865002|266618004|129128006|197785002,,,, 5718,renal_oncocytoma,renal_oncocytoma,,C537750,254922006,,,, 5719,renal_pelvis_carcinoma,renal_pelvis_carcinoma,189.1,,93985007|363457009|188254006,C65,,, 5720,renal_pelvis_transitional_cell_carcinoma,,,,,,,, 5721,renal_pelvis_urothelial_papilloma,,,,,,,, 5722,renal_tubular_transport_disease,,,D015499,,,,, 5723,renal_vascular_disease,,593.81,,266559003|197814004|16934004,,,, 5724,reproductive_organ_benign_neoplasm,,,,,,,, 5725,reproductive_system_disease,reproductive_system_disease,,,,,,, 5726,respiratory_failure,respiratory_failure,518.81,,65710008,J96|J99|J96.0|J96.1|J96.9|J98.8|J98.9|J99.8|P22.9|P28.9,,, 5727,respiratory_system_benign_neoplasm,,,,,,,, 5728,respiratory_system_cancer,,,,,,,, 5729,respiratory_system_disease,,510-519.99|519,,155603009|196057004|266373008|196184000|196255004,10,,, 5730,restrictive_cardiomyopathy,,,D002313,415295002|90828009|389996009,,,, 5731,rete_ovarii_adenoma,,,,,,,, 5732,rete_ovarii_neoplasm,,,,,,,, 5733,rete_testis_neoplasm,,,,,,,, 5734,retinal_artery_occlusion,retinal_artery_occlusion,,D015356,232035005,,,, 5735,retinal_cancer,retinal_cancer,190.5,D019572,363465007|93987004|127002001,C69.2,,, 5736,retinal_degeneration,,,D012162,95695004,,,, 5737,retinal_detachment,retinal_detachment,361.9,D012163,42059000|193347002|155103005,H33.0,,, 5738,retinal_disease,retinal_diseases,362.9,D012164,193430004|29555009|267715002|35426003|399625000,H36|H34.9|H35.8|H35.9,,, 5739,retinal_telangiectasia,,362.15,,84884003,,,, 5740,retinal_vascular_disease,,,,57534004,,,, 5741,retinal_vascular_occlusion,retinal_vascular_occlusion,362.3|362.30,,155111000|267717005|193373007|73757007|193380009,H34,,, 5742,retinal_vein_occlusion,retinal_vein_occlusion,,D012170,46085004,,,, 5743,retinitis,retinitis,,D012173,35426003|399463004|193450000,,,, 5744,retinoblastoma,retinoblastoma,,D012175,19906005|189935007|370967009|189934006|134191003|269614001|154553002,,D012175,C69.2,19906005|370967009 5745,retinoschisis,retinoschisis,361.10,D041441,389992006|193330003|44268007,,,Q14.1, 5746,retroperitoneal_cancer,,,D012186,187801002|254617008|126872008|187805006|359770008|94092006|187817008|359767009|363420003,C48,,, 5747,retroperitoneal_sarcoma,,,,307219002,,,, 5748,rhabdoid_cancer,,,D018335,189812005|83118000,,,, 5749,rhabdoid_meningioma,,,D008579,57606003|128840000|399469000,,,, 5750,rhabdomyosarcoma,rhabdomyosarcoma,,D012208,134166003|302847003|30924005,,D012208|D018233,C49,302847003|30924005|14269005|404051002 5751,rheumatic_disease_of_mitral_valve,,394,,250998008|286947004|83898004|266278002|194724009|155276006,I05,,, 5752,rheumatoid_arthritis,rheumatoid_arthritis,714.0,D001172,287010008|156481008|156471009|69896004,M05.3|M06.8|M13.0,,, 5753,rhinitis,rhinitis,,D012220,70076002,,,, 5754,ruptured_aortic_aneurysm,,441.5,D001019,155423003|195615002|73067008|195264004,,,, 5755,ruptured_thoracic_aortic_aneurysm,,441.1,,195258006|34365005,I71.1,,, 5756,salivary_gland_cancer,salivary_gland_cancer,142.8,D012468,187648003,C08,,, 5757,salivary_gland_disease,salivary_gland,527.8,,,,,, 5758,salpingitis,salpingitis,,D012488,155968004|88157006|198151009|266648001,N70.9,,, 5759,salpingo_oophoritis,,614.2,,198147007|266650009|46536000|198150005|155971007|198153007,N70,,, 5760,sarcoidosis,sarcoidosis,135,D012507,154425004|31541009,D86|D86.9,,, 5761,sarcoma,sarcoma,171|171.9,,187985009|93765001,,,, 5762,scabies,scabies,133.0,D012532,154422001|128869009|187215008|266224002|67172004,B86,,, 5763,schistosomiasis,schistosomiasis,120.8,,187121003|187116001,B65|B65.0|B65.1|B65.2|B65.9,D012552,B65,10087007|105661001 5764,schizophrenia,schizophrenia,295.8|295.80,D012559,,F20|F20.9,,, 5765,scleral_disease,scleral_diseases,,D015422,33064008,H15|H15.8,,, 5766,scleral_staphyloma,,379.11,,111534007,,,, 5767,scleritis,scleritis,379.00,D015423,78370002|155201000|194139000|194140003,H15.0,,, 5768,scleroderma,,,D012594,156451000|268049000|201441006|128457007|89155008|267874003|287005009|156454008|201440007,,,, 5769,sclerosing_hemangioma,sclerosing_hemangioma,,,72079004|134302009,,,, 5770,scrotal_carcinoma,,,,,,,, 5771,scrotum_neoplasm,,187.7,,93999006|126905005|154538005|363454002,C63.2,,, 5772,sebaceous_gland_disease,sebaceous_gland,706.1,,201401002|201230007|201213005,,,, 5773,sebaceous_gland_neoplasm,,,D012626,126491004,,,, 5774,seborrheic_keratosis,seborrheic_keratosis,702.1,D017492,201097003|394726009|156400006|267860005|50563003|46795000|856006|394727000|201107006|25499005|201096007|398838000,,,, 5775,seckel_syndrome,seckel_syndrome,,,,,,, 5776,secondary_parkinson_disease,,332.1,D010302,50364008|265377002|192830002|194477000|230292008|32798002,G21|C77.9|G21.2|G21.9|I15.9,,, 5777,selective_immunoglobulin_deficiency_disease,,,,,,,, 5778,sella_turcica_neoplasm,,,,,,,, 5779,seminal_vesicle_tumor,,,,236740006,,,, 5780,seminoma,seminoma,,D018239,189841001|36741007|443675005|189840000,,,, 5781,senile_cataract,,366.10|366.1,,193582000|193583005|155127007|39450006|193594009,H25,,, 5782,sensory_organ_benign_neoplasm,,,,,,,, 5783,serine_deficiency,,,,,,,, 5784,severe_combined_immunodeficiency,severe_combined_immunodeficiency,,D016511,190994004|31323000,,D016511,D81.0|D81.1|D81.2|D81.3,31323000 5785,severe_pre_eclampsia,,642.50,,,O14.1,,, 5786,sex_cord_gonadal_stromal_tumor,sex_cord-gonadal_stromal_tumors,,D018312,71440001|134323003|189741006|253028001|115221000|189724009,,,, 5787,sex_differentiation_disease,,,D012734,39179006,,,, 5788,sexual_disorder,sexual_disorder,,,,,,, 5789,sideroblastic_anemia,sideroblastic_anemia,285.0,D000756,191263002|154810008|41841004,,,, 5790,sigmoid_neoplasm,,,D012811,126845000|254581007,,,, 5791,skeletal_muscle_cancer,,,,,,,, 5792,skeletal_system_benign_neoplasm,,,,,,,, 5793,skin_benign_neoplasm,,,D012878,363230005|126488004,,,, 5794,skin_cancer,skin_cancer,,D012878,363511009|188143008|190107001|372130007,,,, 5795,skin_disease,skin_disease,702,D012873|D012871,199879009|5613003|156445005|267806002|267860005|239001006|201107006|201095006|156396006|200580005|156292006|95320005|267873009|267859000|156400006|80659006,12|L80-L99|L27|L98|L99|L27.2|L27.8|L27.9|L30.8|L30.9|L57.9|L98.8|L99.8,,, 5796,skin_glomangioma,,,,403970001,,,, 5797,skin_hemangioma,,,,189195009|93471006|254773009,,,, 5798,skin_melanoma,,172|172.9,,93641007|93653006|154506000|269577007|188082007|154501005|188030005|93655004|188032002|190105009|93640008|188047006|188035000|188044004,C43,,, 5799,skin_papilloma,,,,269639005|189051001|154613008|255184001,,,, 5800,skin_sarcoma,,,,,,,, 5801,skin_squamous_cell_carcinoma,,,,254651007,,,, 5802,skin_tag,skin_tag,,,80801001|255183007|156440000|31069005|201091002|189051001|2710003,,,, 5803,skull_base_meningioma,,,,,,,, 5804,skull_base_neoplasm,,,D019292,,,,, 5805,sleep_disorder,sleep_disorder,307.4,D012893,,F51|G47|G47.9,,, 5806,small_intestinal_sarcoma,,,,,,,, 5807,small_intestine_cancer,small_intestine_cancer,152.9,,154555009|363509000|94048009|187755009|269615000,C17,,, 5808,small_intestine_neoplasm,,,,126832004,,,, 5809,smallpox,smallpox,050|050.9,D012899,47452006|186505008|266193008|67924001|154344005,B03,,, 5810,smooth_atrophic_tongue,,529.4,,196585008|196589002|196588005|196586009|50644009|9491003,K14.4,,, 5811,soft_palate_cancer,,145.3,,94049001|363388009,C05.1,,, 5812,somatoform_disorder,somatoform_disorder,300.8|306.8,D013001,192035008|154892001|397923000|9514005|192437007|192431008|192430009|397795007|31297008|60368009|191743005|397826007,F45|F45.9,,, 5813,spastic_cerebral_palsy,spastic_cerebral_palsy,,,,,,, 5814,specific_bursitis_often_of_occupational_origin,,727.2,,42812006,,,, 5815,specific_developmental_disorder,specific_developmental_disorder,,,,F80.9|F81.9,,, 5816,specific_phobia,specific_phobia,,,54587008|192396001,F40.2,,, 5817,speech_disorder,speech_disorder,,D013064,,R47,,, 5818,spermatocytoma,spermatocytoma,,,9294008,,,C62,9294008 5819,sphenoid_sinusitis,,,D015524,13266007,,,, 5820,sphenoidal_sinus_cancer,,160.5,,363428005|94067008,C31.3,,, 5821,sphenoidal_sinus_neoplasm,,,,126679002,,,, 5822,sphingolipidosis,sphingolipidosis,,D013106,58459009|238028008,E75.3,,, 5823,spina_bifida,spina_bifida,,,,Q05|Q05.4,,, 5824,spinal_canal_and_spinal_cord_meningioma,,,,,,,, 5825,spinal_cancer,spinal_cancer,,D013120,94068003|363475005|126962006,C72.0,,, 5826,spinal_cord_disease,spinal_cord,336.9,D013118,267695005|95648003|48522003|192908002|267587000|155020007|192913003,G95.8,,, 5827,spinal_cord_ependymoma,,,,254949006,,,, 5828,spinal_cord_glioma,,,,254947008|254946004,,,, 5829,spinal_cord_ischemia,,,D020760,371029002,,,, 5830,spinal_cord_primitive_neuroectodermal_neoplasm,,,,,,,, 5831,spinal_muscular_atrophy,spinal_muscular_atrophy,335.1|335.10,D009134,192887006|5262007|192885003,,,, 5832,spindle_cell_intraocular_melanoma,,,,,,,, 5833,spindle_cell_thymoma,,,,128707003,,,, 5834,spinocerebellar_ataxia,spinocerebellar_ataxia,,D020754,129609000,,,, 5835,spinocerebellar_degeneration,spinocerebellar_degeneration,334.3,,,,,, 5836,spleen_cancer,,,D013160,254616004|94071006|127230005|363499005|187823003,,,, 5837,splenic_disease,splenic_diseases,289.50,D013158,191381002|51244008|267570002|191385006|58381000|154839008,D73,,, 5838,splenic_manifestation_of_leukemia,,,,,,,, 5839,spondylitis,spondylitis,720.8|720.89,,202653001|202651004,,,, 5840,spondyloarthropathy,spondyloarthropathy,,D025242,357182002|372109003|8847002|359173000,,,, 5841,spotted_fever,spotted_fever,082.0,,186773004|187385002|186771002,A77|A77.0|A77.1|A77.2|A77.3,,, 5842,squamous_cell_carcinoma,squamous-cell_carcinoma,,D002294,189566008|402815007|28899001|154605007,,,, 5843,sternum_cancer,,,,126559003,,,, 5844,steroid_inherited_metabolic_disorder,,,D043202,,,,, 5845,steroid_induced_glaucoma,,365.3,,193550003|1654001,,,, 5846,stomach_cancer,stomach_cancer,151.9|151,D013274,126824007|363349007|93717002|187750004|269458007|93867004|154453004|187743003|269530002|269460009|269529007|187744009|154452009|187742008|269532005|154451002|187731004|154450001|255080008|269531003|269459004|93818001|94074003|372143007|154446008,C16|C16.2,,, 5847,stomach_disease,stomach_disease,,D013272,29384001|196598004|183927002|266497000|155671005,,,, 5848,stomatitis,stomatitis,,D013280,61170000|196527002|155660009|95361005,,,, 5849,strabismus,strabismus,378.7,,194651002|194125000|194128003,H50.8|H50.9,,, 5850,struma_ovarii,struma_ovarii,,D013330,24327009|189851000,,,, 5851,subcutaneous_mycosis,,,,,B35-B49|B48.8,,, 5852,subependymal_glioma,,,D018315,4553004|189910001,,,, 5853,subglottis_squamous_cell_carcinoma,,,,,,,, 5854,substance_abuse,substance_abuse,305,D019966,26416006|66214007,,,, 5855,substance_dependence,substance_dependence,,,103326000|255338002,,,, 5856,substance_induced_psychosis,substance-induced_psychosis,293.89,,,,,, 5857,subvalvular_aortic_stenosis,subvalvular_aortic_stenosis,,D001020,,,,, 5858,superficial_keratitis,,370.20,,27019000|193766004,B36.9|S40.9|S50.9|S60.9|S70.9|S80.9|S90.9,,, 5859,superficial_mycosis,superficial_mycosis,,D010854,402135006|154408001|238435009|266218008,,,, 5860,suppurative_otitis_media,,382.4|382,D010035,39288006|267758003|155229002|194285007|38394007|194280002|194258000,H66,,, 5861,supraglottis_cancer,,161.1,,269558005|94080006|154482003|187842004,,,, 5862,supraglottis_neoplasm,,,,126697005,,,, 5863,supraglottis_squamous_cell_carcinoma,,,,,,,, 5864,supratentorial_cancer,,,D015173,,,,, 5865,survival_motor_neuron_spinal_muscular_atrophy,,,D014897,,,,, 5866,sweat_gland_disease,sweat_gland_disease,705|705.9,D013543,88232005|156413000|201209003,,,, 5867,sweat_gland_neoplasm,,,D013544,12933008|189665000|126490003,,,, 5868,synostosis,synostosis,,D013580,,,,, 5869,synovial_sarcoma,synovial_sarcoma,,D013584,302851001|63211008,,,C49.9, 5870,synovitis,synovitis,,D013585,416209007|156666009|268092005|14107000,M65.9,,, 5871,synovium_cancer,,,,,,,, 5872,synovium_neoplasm,,,,189829008|189831004,,,, 5873,syphilis,syphilis,,D002601,154381009|266209006|266127002,A53.9,,, 5874,systemic_mastocytosis,,,D034721,123310005|397016004|50150000,,D034721|D007946,C96.2|C94.3,397016004|110002002|128924002 5875,systemic_scleroderma,systemic_scleroderma,710.1,D012595,128457007|201440007|268049000|156451000|89155008,M34|M34.0,,M34,89155008 5876,t_cell_deficiency,t_cell_deficiency,,,,,,, 5877,t_cell_leukemia,t-cell_leukemia,,D015458,,,,, 5878,taeniasis,taeniasis,123.2,,69163003,B68|B68.9,,, 5879,tauopathy,tauopathy,,D024801,,,,, 5880,teeth_hard_tissue_disease,,521.8|521.89,,197505001,K03.8,,, 5881,telangiectasis,telangiectasis,,D013684,266324004|112641009|247479008|155449008|276328002,,,, 5882,tertiary_neurosyphilis,,094.9|094,D009494,186884004|26039008|187356008|154384001|266210001|186895005,,,, 5883,tertiary_syphilis,,097.0,C536774,187358009|276200006|186905004|72083004,A52,,, 5884,testicular_cancer,testicular_cancer,,D013736,269472003|188228003|94087009|236778008|363449006|126900000,,,, 5885,testicular_disease,testicular_diseases,,D013733,236763001|297228003|64910008,E29|E29.9,,, 5886,testicular_granulosa_cell_tumor,,,,,,,, 5887,testicular_malignant_germ_cell_cancer,,,,,,,, 5888,testicular_yolk_sac_tumor,,,,,,,, 5889,testis_sarcoma,,,,,,,, 5890,testis_seminoma,,,,154532006|269603004|255107005|188228003,,,, 5891,tetanus,tetanus,037,D013742,76902006|154312006|276202003,,D013742,A33|A34|A35,276202003|76902006 5892,thalassemia,thalassemia,282.4,D013789,267521001|84188003|191182000|191192008|154796005|267557006|191193003|40108008,,,, 5893,third_cranial_nerve_disease,third_cranial_nerve,,,230531004|60750009,,,, 5894,thoracic_benign_neoplasm,,,,,,,, 5895,thoracic_cancer,,,D013899,188361007|255058005|188365003,,,, 5896,thoracic_outlet_syndrome,thoracic_outlet_syndrome,,D013901,128210009|2040007|193108007|393578000|212769008|193106006|193107002,,D013901,G54.0,128210009 5897,thrombocytopenia,thrombocytopenia,287.5,D013921,191326009|70786006|415116008|165556002|302215000|142969008|154827000,,,, 5898,thrombophilia,thrombophilia,,D019851,76612001|191302007|234467004,,,, 5899,thrombophlebitis,thrombophlebitis,,D013924,195433004|195401008|40283005|64156001|266266001,I80.0,,, 5900,thymic_carcinoma,thymic_carcinoma,,D013945,128717008|15949004,,,C37,128717008|15949004|444374006|444596001 5901,thymoma,thymoma,,D013945,128856005|444231005|189721001,,D013945,D15.0|C37,128856005|444231005 5902,thymus_adenocarcinoma,,,,,,,, 5903,thymus_cancer,,,D013953,127231009|363434003|94096009,C37,,, 5904,thymus_gland_disease,,254.9|254,,154703006|20673009|190500009|267482009,E32,,, 5905,thymus_squamous_cell_carcinoma,,,,,,,, 5906,thyroid_cancer,thyroid_cancer,193,D013964,363478007|94098005|154554008|127018007,,,, 5907,thyroid_gland_disease,,246.9|240-246.99,D013959,14304000|190232008|154649009|191036006|190311002,,,, 5908,thyroid_sarcoma,,,,,,,, 5909,thyroiditis,thyroiditis,245.8,,190299002|191041003,E06|E06.9,,, 5910,thyrotoxicosis,thyrotoxicosis,242,D013971,267373004|286909009|267464006|190267008|90739004|190239004|154655004|154659005,E05|E05.0|E05.1|E05.2|E05.9,,, 5911,tibial_neuropathy,tibial_neuropathy,,D020429,399364006|35062009|399076001|359842002,,,, 5912,tic_disorder,tic_disorder,307.2|307.20,D013981,191988002|192621007|568005|35042001|386783003|112086008|191991002|192626002|155005001|191989005|393585001,F95|F95.9,,, 5913,tick_infestation,,,D013984,,,,, 5914,tinea_capitis,tinea_capitis,110.0,,186985002|266148000|186987005,,,, 5915,tinea_corporis,tinea_corporis,110.5,,186994008|266151007|84849002,B35.4,,, 5916,tongue_disease,tongue_disease,529.9,D014060,155533008|155667007|69244009|266496009|196595001|155665004,K14,,, 5917,tooth_disease,tooth_disease,,D014076,266485001|72722003|155631000|367503003|234947003,K02.9,,, 5918,tooth_erosion,tooth_erosion,521.3,D014077,196315004|266486000|82212003|155634008,,,, 5919,tooth_resorption,tooth_resorption,521.4,D014091,70931000|196316003,,,, 5920,toxoplasmosis,toxoplasmosis,130.9|130,D014123,154423006|266225001|187192000|276203008|9399000|187200007|187515009,B58|B58.8|B58.9,,, 5921,trachea_carcinoma,,,,269562004|154486000,,,, 5922,tracheal_cancer,,162.0,,187855003|269562004|363432004,C33,,, 5923,tracheal_disease,tracheal_diseases,,D014133,47125007,,,, 5924,transient_arthritis,,716.40|716.4,,201987005|66191007|202019004,,,, 5925,transient_cerebral_ischemia,transient_cerebral_ischemia,,D002546,266257000|195207009|266314007|38609002|155404005|313242003|195196001,,,, 5926,transient_hypogammaglobulinemia,,,,,,,, 5927,transient_neonatal_neutropenia,,776.7,,206520003|55444004,P61.5,,, 5928,transitional_cell_carcinoma,transitional_cell_carcinoma,,D002295,189576006|27090000|118287003,,,, 5929,transitional_papilloma,,,,44342003|189575005|45083001,,,, 5930,trichostrongyloidiasis,,,D014252,,,,, 5931,trigeminal_nerve_disease,trigeminal_nerve,350.8,,,G50|G50.8,,, 5932,trigeminal_nerve_neoplasm,,,,126971002,,,, 5933,trophoblastic_neoplasm,trophoblastic_neoplasm,,D014328,115234004|189855009|189858006|134334000,,,, 5934,trypanosomiasis,trypanosomiasis,086|086.9,D014352,266205000|78940002|186819000|154375001,,,, 5935,tuberculosis,tuberculosis,,D014375,15202009,A15-A19|A17.9,D014376,A15-A19,371569005|373576009|56717001 5936,tularemia,tularemia,021.8,,111834003|186298002|186299005,,D014406,A21,19265001 5937,tumor_of_exocrine_pancreas,,,,254604005|255088001,,,, 5938,turner_syndrome,turner_syndrome,,D014424|C531840,268356004|38804009|205691005|205685008|254279009|157020008|268299006,Q96.0,D014424,Q96|Q96.0,38804009 5939,tympanic_membrane_disease,,384.9,,21426000|194326008,H73|H73.8,,, 5940,type_2_diabetes_mellitus,diabetes_mellitus_type_2,,D003924,267468009|190323008|154672006|44054006|190384004,E11|E11.0|E11.1|E11.2|E11.3|E11.4|E11.5|E11.6|E11.7|E11.8|E11.9,,, 5941,type_c_thymoma,,,,444374006|128717008,,,, 5942,typhus,typhus,081.9,D014438,25668000|39111003|187383009|83838002|414263007|266205000|154375001,A75|A75.2|A75.3|A75.9,,A75.2,25668000 5943,tyrosinemia,tyrosinemia,,D020176,190694001,,,, 5944,ulcerative_stomatitis,,,D005892,450005,,,, 5945,upper_respiratory_tract_disease,,478.19|478.1,,266346007|195823002,J39.8,,, 5946,urea_cycle_disorder,urea_cycle_disorder,270.6,D056806,36444000,E72.2,,, 5947,uremia,uremia,,D014511,44730006|197656003|266616000,,,, 5948,ureter_cancer,ureter_cancer,189.2,D014516,154543003|94121005|363458004,C66,,, 5949,ureter_transitional_cell_carcinoma,,,,300988009,,,, 5950,ureter_urothelial_papilloma,,,,,,,, 5951,ureteral_benign_neoplasm,,,D014516,126882009,,,, 5952,ureteral_disease,ureteral_diseases,,D014515,,,,, 5953,urethra_adenocarcinoma,,,,,,,, 5954,urethra_cancer,urethra_cancer,189.3,,94123008|154544009|363459007,,,, 5955,urethra_squamous_cell_carcinoma,,,,,,,, 5956,urethral_benign_neoplasm,,,D014523,126883004,,,, 5957,urethral_obstruction,,,D014524,95588004,,,, 5958,urethral_stricture,urethral_stricture,598.8,,,N35,,, 5959,urethral_urothelial_papilloma,,,,,,,, 5960,urinary_system_disease,,,,,N39|N39.8,,, 5961,urinary_tract_obstruction,urinary_tract_obstruction,599.6|599.60,,266636004|197936002|266567006|7163005,N13.9|N20.9,,, 5962,urinary_tract_papillary_transitional_cell_benign_neoplasm,,,,,,,, 5963,urogenital_tuberculosis,urogenital_tuberculosis,016.9|016,D014401,4445009|186246004,,,, 5964,urticaria,urticaria,708.8,D014581,201271001|201267004|267817001,,,, 5965,uterine_adnexa_cancer,,183,,269601002|428322007|190123001|94126000|188206003|154527005|188201008,,,, 5966,uterine_benign_neoplasm,,,,,,,, 5967,uterine_body_mixed_cancer,,,,,,,, 5968,uterine_corpus_cancer,,182,,269600001|154526001|188194001|371972005|93718007|188200009|363442002,,,, 5969,uterine_corpus_cellular_leiomyoma,,,,,,,, 5970,uterine_corpus_choriocarcinoma,,,,,,,, 5971,uterine_corpus_leiomyomatosis,,,,,,,, 5972,uterine_corpus_sarcoma,,,,254877001,,,, 5973,uterine_disease,uterine_disease,621.9,D014591,12337004|198335006|237068005|156009000|156004005,,,, 5974,uterine_fibroid,,218.9|218,D007889,189106003|44598004|95315005|154616000,D25.9,,, 5975,uterine_ligament_adenocarcinoma,,,,,,,, 5976,uterine_ligament_cancer,,,,,,,, 5977,uterus_leiomyosarcoma,,,,,,,C54, 5978,uveal_epithelioid_cell_melanoma,,,,,,,, 5979,uveitis,uveitis,,D014605,193499001|75614007|128473001|155116005|267719008,,,, 5980,vagina_botryoid_rhabdomyosarcoma,,,,,,,, 5981,vagina_sarcoma,,,,,,,, 5982,vaginal_adenoma,,,,,,,, 5983,vaginal_benign_neoplasm,,,,,,,, 5984,vaginal_cancer,vaginal_cancer,184.0,D014625,126921000|154534007|188210000|363445000,C52,,C52,254893005 5985,vaginal_carcinosarcoma,,,,,,,, 5986,vaginal_discharge,vaginal_discharge,,D019522,139439007|271939006|162159008|70856007|198369007,,,, 5987,vaginal_disease,vaginal_diseases,,D014623,25658005|156018003|286989007|266665005|156015000,,,, 5988,vaginal_glandular_tumor,,,,,,,, 5989,vaginal_squamous_tumor,,,,,,,, 5990,vaginitis,vaginitis,,D014627,198213001|393596009|30800001|198212006|198223005|266655004|155981006,,,, 5991,vascular_cancer,,,D019043,188012003|189874001|115235003|126737003|93817006|189862000|126736007,,,, 5992,vascular_disease,vascular_disease,,D014652,27550009,F01.9|K55.9,,, 5993,vascular_hemostatic_disease,,,D020141,21112004,,,, 5994,vascular_skin_disease,,709.1,D017445,11263005|201306008|267820009,,,, 5995,vascular_tissue_disease,,,,,,,, 5996,vasculitis,vasculitis,,D014657,31996006|266325003|195375002|393589007,L95.9,,, 5997,vein_disease,,453,,195435006,I87|I87.8,,, 5998,venous_insufficiency,venous_insufficiency,459.81,D014689,20696009,I87.2,,, 5999,ventricular_septal_defect,ventricular_septal_defect,745.4,D006345,204310005|156914003|253549006|204309000|30288003|270547008|204314001,,D006345,Q21.0,30288003 6000,vesiculobullous_skin_disease,vesiculobullous_skin_disease,,D012872,,,,, 6001,vestibular_disease,vestibular_disease,,D015837,20425006|194379003|194695008|267761002,,,, 6002,vestibular_gland_benign_neoplasm,,,,,,,, 6003,vestibulocochlear_nerve_disease,vestibulocochlear_nerve,388.5,D000160,194402005|77949003,H93.3,,, 6004,viral_exanthem,,057.8,,186577001|186583003|186585005,,,, 6005,viral_gastritis,,,,285344007,,,, 6006,viral_hepatitis,viral_hepatitis,,D006524,,B15-B19|B19|B19.0|B19.9,,, 6007,viral_infectious_disease,,060-066.99|066.9,D001102,154372003|186754003|266194002|40610006|187471008|154319002|34014006|266116004|186619002|266188005|154345006,B34,,, 6008,viral_meningitis,viral_meningitis,047.9,D008587,154984006|154321007|267680008|186490006|266190006|266097006|192672003|154985007|58170007|267575007|187403007,A87|A08.4|A87.9|B30.9|B33.8|B34.9|J12.9,,, 6009,visceral_heterotaxy,,,,,,,, 6010,visual_agnosia,visual_agnosia,,C531604,,,,, 6011,visual_cortex_disease,,377.7,,194071005|86492004|128329001,H47.6,,, 6012,visual_pathway_disease,,,,194037001|267741008|155191004|267744000|54767005,,,, 6013,vitamin_b12_deficiency,,,,,,,, 6014,vitamin_metabolic_disorder,,,,,,,, 6015,vitreous_disease,,379.24,,194636006|194154006,,,, 6016,vulva_adenocarcinoma,,,,,,,, 6017,vulva_cancer,vulva_cancer,,D014846,188214009|269604005|269471005|126922007|94143002|154535008|363367000,C51,,, 6018,vulva_squamous_cell_carcinoma,,,,254895003,,,, 6019,vulvar_benign_neoplasm,,,,,,,, 6020,vulvar_disease,vulvar_diseases,,D014845,5089007,,,, 6021,vulvar_glandular_tumor,,,,,,,, 6022,vulvar_sarcoma,,,,254897006,,,, 6023,vulvar_seborrheic_keratosis,,,,,,,, 6024,vulvar_squamous_papilloma,,,,,,,, 6025,west_nile_encephalitis,,066.41,D014901,392662004,,,A92.3,392662004 6026,withdrawal_disorder,,,,,,,, 6027,writing_disorder,,,,,,,, 6028,x_linked_disease,x-linked_diseases,,,,,,, 6029,xanthomatosis,xanthomatosis,,D014973,63103006,,,, 6030,yaws,yaws,102|102.9,D015001,187372000|266213004|154391003|70647001|186974004,A66|A66.9,,, 6031,hypertrophic_scars,hypertrophic_scar,,,,L91.0,,, 6032,congenital_methemoglobinemia,,,,,,,, 6033,21_hydroxylase_deficiency,21-hydroxylase_deficiency,,,,E25|E25.9|K73.2,,, 6034,speech_and_communication_disorders,speech_and_communication_disorders,,,,,,, 6035,homocystinuria_megaloblastic_anemia_due_to_defect_in_cobalamin_metabolism_cble_complementation_type,,,,,,,, 6036,homocystinuria_megaloblastic_anemia_due_to_defect_in_cobalamin_metabolism_cblg_complementation_type,,,,,,,, 6037,1p36_deletion_syndrome,1p36_deletion_syndrome,,,,,,Q93.5, 6038,18p_deletion_syndrome,18p_deletion_syndrome,,,,,,, 6039,triple_x_syndrome,triple_x_syndrome,,,,,D014314,Q97.0,35111009 6040,47xyy_syndrome,xyy_syndrome,,,,,C535317|D014997,Q98.5,50749006 6041,ala_dehydratase_deficiency,,,,,,,, 6042,congenital_absence_of_the_vas_deferens,congenital_absence_of_the_vas_deferens,,,,,C535984,Q55.4,275416002 6043,gaucher_disease_type_1,,,,,,,, 6044,gaucher_disease_type_2,,,,,,,E75.2,12246008 6045,muenke_syndrome,muenke_syndrome,,,,,C537369,Q87.0,440350001 6046,adenylosuccinate_lyase_deficiency,adenylosuccinate_lyase_deficiency,,,,,,, 6047,albinism,albinism,,,,,,, 6048,alstram_syndrome,,,,,,,, 6049,von_hippelalindau_disease,,,,,,,, 6050,factor_v_leiden_thrombophilia,,,,,,,, 6051,stickler_syndrome_col2a1,,,,,,,, 6052,ehlersadanlos_syndrome_arthrochalasia_type,,,,,,,, 6053,amyotrophic_lateral_sclerosis_type_4,,,,,,,, 6054,amyotrophic_lateral_sclerosis_type_2,,,,,,,G12.2, 6055,pendred_syndrome,pendred_syndrome,,,,,C536648,E07.1,70348004 6056,benjamin_syndrome,benjamin_syndrome,,,,,,, 6057,tetrahydrobiopterin_deficiency,tetrahydrobiopterin_deficiency,,,,,,, 6058,birtahoggadubac_syndrome,,,,,,,, 6059,congenital_erythropoietic_porphyria,,,,,,,, 6060,ehlersadanlos_syndrome_classical_type,,,,,,,, 6061,thanatophoric_dysplasia_type_2,,,,,,,Q77.1, 6062,collagenopathy_types_ii_and_xi,,,,,,,, 6063,colorectal_cancer,colorectal_cancer,,,,,,, 6064,hereditary_neuropathy_with_liability_to_pressure_palsies,,,,,,,, 6065,crouzonodermoskeletal_syndrome,crouzonodermoskeletal_syndrome,,,,,,Q75.1, 6066,dents_disease,,,,,,C545036|D057973|C538212,N25.8,444645005 6067,muscular_dystrophy_duchenne_and_becker_types,,,,,,,G71.0, 6068,degenerative_nerve_diseases,,,,,,,, 6069,de_grouchy_syndrome,,,,,,,, 6070,ehlersadanlos_syndrome_dermatosparaxis_type,,,,,,,, 6071,developmental_disabilities,developmental_disability,,,,,,, 6072,distal_spinal_muscular_atrophy_type_v,,,,,,,, 6073,myotonic_dystrophy_type_1,,,,,,,, 6074,dwarfism,dwarfism,,,,,,, 6075,alzheimer_disease_type_1,,,,,,,, 6076,ehlersadanlos_syndrome,,,,,,,, 6077,retinoblastoma_fa_friedreich_ataxia,,,,,,,, 6078,facial_injuries_and_disorders,facial_injuries_and_disorders,,,,,,, 6079,haemochromatosis_type_4,,,,,,,, 6080,pseudo_gaucher_disease,,,,,,,, 6081,genetic_brain_disorders,genetic_brain_disorders,,,,,,, 6082,neonatal_hemochromatosis,neonatal_hemochromatosis,,,,,C536394,E83.1,6160004 6083,harlequin_type_ichthyosis,harlequin-type_ichthyosis,,,,Q80.4,,Q80.4, 6084,head_and_brain_malformations,head_and_brain_malformations,,,,,,, 6085,hearing_disorders_and_deafness,hearing_disorders_and_deafness,,,,,,, 6086,hearing_problems_in_children,hearing_problems_in_children,,,,,,, 6087,hemochromatosis_type_2,,,,,,,, 6088,methemoglobinemia_beta_globin_type,,,,,,,, 6089,hemophilia,hemophilia,,,,,,D66|D67,90935002 6090,skeletal_muscle_regeneration,skeletal_muscle_regeneration,,,,,,, 6091,infantile_onset_ascending_hereditary_spastic_paralysis,infantile-onset_ascending_hereditary_spastic_paralysis,,,,,,G12.2, 6092,weissenbacher_zweyma_1_4_ller_syndrome,,,,,,,, 6093,hyperphenylalaninemia,hyperphenylalaninemia,,,,,,, 6094,immunodeficiency_centromere_instability_and_facial_anomalies_syndrome,,,,,,,D84.8, 6095,hemochromatosis_type_3,,,,,,C537248,E83.1, 6096,peutzajeghers_syndrome,,,,,,,, 6097,isodicentric_15,isodicentric_15,,,,,,, 6098,jackson_weiss_syndrome,,,,,,C537559,Q87.8, 6099,haemochromatosis_type_2,,,,,,,, 6100,juvenile_primary_lateral_sclerosis,juvenile_primary_lateral_sclerosis,,,,,C536416,G12.2, 6101,x_linked_spinal_bulbar_muscle_atrophy,x-linked_spinal-bulbar_muscle_atrophy,,,,,,G12.2, 6102,alzheimer_disease_type_2,,,,,,,, 6103,ehlersadanlos_syndrome_kyphoscoliosis_type,,,,,,,, 6104,spinocerebellar_ataxia_type_3,,,,,,,, 6105,male_genital_disorders,male_genital_disorders,,,,,,, 6106,mccuneaalbright_syndrome,,,,,,,, 6107,mcleod_syndrome,,,,,,,, 6108,metabolic_disorders,metabolic_disorders,,,,,,, 6109,micro_syndrome,micro_syndrome,,,,,,, 6110,mowat_wilson_syndrome,,,,,,C536990,Q43.1, 6111,neurologic_diseases,neurologic_diseases,,,,,,, 6112,niemannapick_disease,,,,,,,, 6113,gaucher_disease_type_3,,,,,,,E75.2,5963005 6114,pheochromocytoma,pheochromocytoma,,,,,,, 6115,pigmentary_cirrhosis,pigmentary_cirrhosis,,,,,,, 6116,ala_deficiency_porphyria,,,,,,,, 6117,osteogenesis_imperfecta_type_iii,,,,,,C536044,Q78.0,385483009 6118,ehlersadanlos_syndrome_vascular_type,,,,,,,, 6119,saddan,,,,,,,, 6120,skin_pigmentation_disorders,,,,,,,, 6121,smith_magenis_syndrome_2,,,,,,D058496,Q87.8,401315004 6122,spinal_bulbar_muscular_atrophy,spinal-bulbar_muscular_atrophy,,,,,,, 6123,osteogenesis_imperfecta_type_i,,,,,,,Q78.0,385482004 6124,williams_syndrome,williams_syndrome,,,,,,, 6125,wolfahirschhorn_syndrome,,,,,,,, 6126,48_xxxx,,,,,,,, 6127,49_xxxxx,,,,,,,, 6128,1q211_microdeletion,,,,,,,, 6129,15q133_microdeletion,,,,,,,Q93.5, 6130,15q24_microdeletion_syndrome,,,,,,,Q93.5, 6131,16p112_microdeletion,,,,,,,Q93.5, 6132,2q37_microdeletion_syndrome,,,,,,,, 6133,22q112_duplication,,,,,,,Q92.3, 6134,3_m_syndrome,,,,,,,Q87.1, 6135,3_methylglutaconic_aciduria_type_3,,,,,,C535311,E71.1,297232009 6136,46xx_testicular_disorder_of_sex_development,,,,,,,, 6137,46xy_disorder_of_sex_development_and_46xy_complete_gonadal_dysgenesis,,,,,,,, 6138,9q223_microdeletion,,,,,,,, 6139,adamtsl4_related_eye_disorders,,,,,,,, 6140,aip_related_familial_isolated_pituitary_adenomas,,,,,,,, 6141,alk_related_neuroblastoma_susceptibility,,,,,,,, 6142,als2_related_disorders,,,,,,,, 6143,ano5_related_muscle_diseases,,,,,,,, 6144,apc_associated_polyposis_conditions,,,,,,,, 6145,arsacs,arsac,,,,,C536787,G11.8, 6146,atp6v0a2_related_cutis_laxa,,,,,,,, 6147,atp7a_related_copper_transport_disorders,,,,,E83.0,,, 6148,acid_sphingomyelinase_deficiency,,,,,,,, 6149,adenine_phosphoribosyltransferase_deficiency,adenine_phosphoribosyltransferase_deficiency,,,,,,E79.8, 6150,adult_polyglucosan_body_disease,,,,,,,E74.0, 6151,alpha_thalassemia_x_linked_intellectual_disability_syndrome,,,,,,,, 6152,alport_syndrome_and_thin_basement_membrane_nephropathy,,,,,,,, 6153,amish_lethal_microcephaly,,,,,,,Q02, 6154,ankyloblepharon_ectodermal_defects_cleft_lip_palate_syndrome,,,,,,,Q82.4, 6155,anophthalmia_microphthalmia_2,,,,,,,, 6156,arrhythmogenic_right_ventricular_dysplasia_cardiomyopathy_autosomal_dominant,arrhythmogenic_right_ventricular_dysplasia,,,,,,, 6157,ataxia_with_vitamin_e_deficiency,,,,,E56.0,C535393,E56.0|G11.1, 6158,atelosteogenesis_type_2,,,,,,C535395,Q77.5,254055004 6159,atypical_hemolytic_uremic_syndrome,atypical_hemolytic_uremic_syndrome,,,,D59.3,C538266,D58.8|D59.3, 6160,autosomal_dominant_hyper_ige_syndrome,,,,,,,, 6161,autosomal_dominant_nocturnal_frontal_lobe_epilepsy,autosomal_dominant_nocturnal_frontal_lobe_epilepsy,,,,,,, 6162,autosomal_dominant_partial_epilepsy_with_auditory_features,,,,,,,, 6163,autosomal_recessive_congenital_ichthyosis,,,,,,D017490,Q80.2,205550003|267372009 6164,brca1_and_brca2_hereditary_breast_and_ovarian_cancer,,,,,,,, 6165,bscl2_related_neurologic_disorders_seipinopathy,,,,,,,, 6166,berardinelli_seip_congenital_lipodystrophy,,,,,,,, 6167,best_vitelliform_macular_dystrophy,,,,,,,, 6168,branchiootorenal_spectrum_disorders,,,,,,,, 6169,carasil,,,,,,,F01.1|I67.8, 6170,catsper_related_male_infertility,,,,,,,, 6171,cdc73_related_disorders,,,,,,,, 6172,cftr_related_disorders,,,,,,,, 6173,charge_syndrome,charge_syndrome,,,,,D058747,Q87.8,47535005 6174,chst3_related_skeletal_dysplasia,,,,,,,Q74.8, 6175,clcn7_related_osteopetrosis,,,,,,,, 6176,col1a1_2_related_osteogenesis_imperfecta,,,,,,,, 6177,col4a1_related_disorders,,,,,,,, 6178,csf1r_related_hereditary_diffuse_leukoencephalopathy_with_spheroids,,,,,,,, 6179,calpainopathy,,,,,,,G71.0, 6180,cardiofaciocutaneous_syndrome,cardiofaciocutaneous_syndrome,,,,,C535579,Q87.8,403770008 6181,carnitine_palmitoyltransferase_1a_deficiency,,,,,,,, 6182,carnitine_palmitoyltransferase_ii_deficiency,,,,,,,, 6183,cartilage_hair_hypoplasia_anauxetic_dysplasia_spectrum_disorders,,,,,,,, 6184,catecholaminergic_polymorphic_ventricular_tachycardia,catecholaminergic_polymorphic_ventricular_tachycardia,,,,I47.2,,, 6185,caveolinopathies,caveolin_3,,,,,,, 6186,cerebral_cavernous_malformation_familial,,,,,,,, 6187,char_syndrome,,,,,,C538076,Q87.8, 6188,charcot_marie_tooth_hereditary_neuropathy,,,,,,,, 6189,charcot_marie_tooth_neuropathy_type_1,,,,,,,, 6190,charcot_marie_tooth_neuropathy_type_2,,,,,,,, 6191,charcot_marie_tooth_neuropathy_type_2a,,,,,,,, 6192,charcot_marie_tooth_neuropathy_type_2e_1f,,,,,,,, 6193,charcot_marie_tooth_neuropathy_type_4,,,,,,,, 6194,charcot_marie_tooth_neuropathy_type_4a,,,,,,C535419,G60.0, 6195,charcot_marie_tooth_neuropathy_type_4c,,,,,,C535423,G60.0, 6196,charcot_marie_tooth_neuropathy_x_type_1,,,,,,,, 6197,charcot_marie_tooth_neuropathy_x_type_5,,,,,,,, 6198,childhood_ataxia_with_central_nervous_system_hypomyelination_vanishing_white_matter,childhood_ataxia_with_central_nervous_system_hypomyelination,,,,,C537420,E75.2, 6199,chondrodysplasia_punctata_1_x_linked,,,,,E56.1,,, 6200,chondrodysplasia_punctata_2_x_linked,,,,,,,, 6201,citrin_deficiency,citrin,,,,,,, 6202,citrullinemia_type_i,,,,,,,, 6203,cohen_syndrome,cohen_syndrome,,,,,C536438,Q87.8,56604005 6204,cold_induced_sweating_syndrome_including_crisponi_syndrome,,,,,,,, 6205,collagen_type_vi_related_disorders,,,,,,,, 6206,common_variable_immune_deficiency,common_variable_immune_deficiency,,,,,,, 6207,congenital_cataracts_facial_dysmorphism_and_neuropathy,,,,,,,G60.8|Q13.8, 6208,congenital_central_hypoventilation_syndrome,congenital_central_hypoventilation_syndrome,,,,,,, 6209,congenital_contractural_arachnodactyly,congenital_contractural_arachnodactyly,,,,,C536211,Q87.8,205821003 6210,congenital_deafness_with_labyrinthine_aplasia_microtia_and_microdontia,,,,,,,, 6211,congenital_dyserythropoietic_anemia_type_i,,,,,,,D64.4,59548005 6212,congenital_fiber_type_disproportion,congenital_fiber_type_disproportion,,,,,,, 6213,congenital_fibrosis_of_the_extraocular_muscles,,,,,,,, 6214,congenital_hepatic_fibrosis,congenital_hepatic_fibrosis,,,,,,, 6215,congenital_stromal_corneal_dystrophy,congenital_stromal_corneal_dystrophy,,,,,,H18.5, 6216,craniofacial_microsomia,craniofacial_microsomia,,,,,,, 6217,craniometaphyseal_dysplasia_autosomal_dominant,,,,,,,, 6218,creatine_deficiency_syndromes,,,,,,,, 6219,cytochrome_p450_oxidoreductase_deficiency,,,,,,,, 6220,dcx_related_disorders,,,,,,,, 6221,dfna2_nonsyndromic_hearing_loss,,,,,,,, 6222,dfnx1_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 6223,dguok_related_mitochondrial_dna_depletion_syndrome_hepatocerebral_form,,,,,,,, 6224,dnm2_related_intermediate_charcot_marie_tooth_neuropathy,,,,,,,G60.0, 6225,dnmt1_related_dementia_deafness_and_sensory_neuropathy,,,,,,,, 6226,deafness_and_hereditary_hearing_loss,,,,,,,, 6227,deafness_dystonia_optic_neuronopathy_syndrome,deafness-dystonia-optic_neuronopathy_syndrome,,,,,C535808,, 6228,dense_deposit_disease_membranoproliferative_glomerulonephritis_type_ii,,,,,,,, 6229,diabetes_mellitus_6q24_related_transient_neonatal,,,,,,,, 6230,disorders_of_intracellular_cobalamin_metabolism,,,,,,,, 6231,donnai_barrow_syndrome,,,,,,C536390,Q87.8, 6232,dopamine_beta_hydroxylase_deficiency,dopamine_beta_hydroxylase_deficiency,,,,,C535600,G90.8,237923004 6233,dysferlinopathy,dysferlinopathy,,,,,,, 6234,dystonia_parkinsonism_hypermanganesemia_polycythemia_and_chronic_liver_disease,,,,,,,, 6235,dystrophinopathies,,,,,,,, 6236,efemp2_related_cutis_laxa,,,,,,,, 6237,elane_related_neutropenia,,,,,,,, 6238,early_onset_primary_dystonia,,,,,G24|G24.9,,G24.1, 6239,ehlers_danlos_syndrome_classic_type,,,,,,C536195,Q79.6,20766005 6240,ehlers_danlos_syndrome_hypermobility_type,,,,,,,Q79.6, 6241,ehlers_danlos_syndrome_kyphoscoliotic_form,,,,,,,, 6242,ehlers_danlos_syndrome_type_iv,,,,,,,Q79.6, 6243,emanuel_syndrome,emanuel_syndrome,,,,,C535733,Q92.6, 6244,enlarged_parietal_foramina,,,,,,,, 6245,epidermolysis_bullosa_with_pyloric_atresia,,,,,Q81,,, 6246,epimerase_deficiency_galactosemia,epimerase_deficiency,,,,,,E74.2, 6247,episodic_ataxia_type_1,,,,,,,G71.1|G11.8,421182009 6248,episodic_ataxia_type_2,,,,,,,G11.8,420932006 6249,erythropoietic_protoporphyria_autosomal_recessive,,,,,,,, 6250,esophageal_atresia_tracheoesophageal_fistula,,,,,,,, 6251,fbln5_related_cutis_laxa,,,,,,,Q82.8,254222002 6252,fgfr_related_craniosynostosis_syndromes,,,,,,,, 6253,flnb_related_disorders,,,,,,,, 6254,fmr1_related_disorders,,,,,,,, 6255,frmd7_related_infantile_nystagmus,,,,,,,, 6256,familial_acute_myeloid_leukemia_with_mutated_cebpa,,,,,,,, 6257,familial_exudative_vitreoretinopathy_autosomal_dominant,,,,,,,, 6258,familial_hyperinsulinism,familial_hyperinsulinism,,,,,,, 6259,familial_idiopathic_basal_ganglia_calcification,,,,,,,G23.8, 6260,familial_juvenile_hyperuricemic_nephropathy_type_2,,,,,,,, 6261,familial_mosaic_monosomy_7_syndrome,,,,,,,, 6262,familial_paroxysmal_kinesigenic_dyskinesia,paroxysmal_kinesogenic_dyskinesia,,,,,,G24.8, 6263,familial_paroxysmal_nonkinesigenic_dyskinesia,paroxysmal_nonkinesigenic_dyskinesia,,,,,C537181,G24.8,49949003 6264,familial_transthyretin_amyloidosis,,,,,,,, 6265,fatty_acid_hydroxylase_associated_neurodegeneration,,,,,,,G11.4|G23.0, 6266,feingold_syndrome_1,,,,,,,, 6267,floating_harbor_syndrome,floating-harbor_syndrome,,,,,C537062,Q87.8,312214005 6268,free_sialic_acid_storage_disorders,sialic_acid_storage_disease,,,,,,, 6269,frontotemporal_dementia_chromosome_3_linked,,,,,,,, 6270,fryns_syndrome,fryns_syndrome,,,,,C538070,Q87.8, 6271,fumarate_hydratase_deficiency,fumarase_deficiency,,,,,C538191,E88.8,124616002|237983002 6272,gars_associated_axonal_neuropathy,,,,,,,, 6273,gata1_related_x_linked_cytopenia,,,,,,,, 6274,gne_related_myopathy,,,,,,,, 6275,grn_related_frontotemporal_dementia,,,,,,,, 6276,gtp_cyclohydrolase_1_deficient_dopa_responsive_dystonia,,,,,,,, 6277,geleophysic_dysplasia,,,,,,C537677,Q87.1, 6278,genetic_prion_diseases,,,,,,,, 6279,giant_axonal_neuropathy,giant_axonal_neuropathy,,,,,D056768,G60.8,128207002 6280,glucose_transporter_type_1_deficiency_syndrome,de_vivo_disease,,,,,,, 6281,hfe_associated_hereditary_hemochromatosis,,,,,,,, 6282,hand_foot_genital_syndrome,,,,,,,, 6283,hemophagocytic_lymphohistiocytosis_familial,,,,,,,, 6284,hepatic_veno_occlusive_disease_with_immunodeficiency,,,,,,,K76.5, 6285,hereditary_ataxia,,,,,G11,,, 6286,hereditary_diffuse_gastric_cancer,,,,,,,, 6287,hereditary_folate_malabsorption,,,,,,,D52.8, 6288,hereditary_leiomyomatosis_and_renal_cell_cancer,,,,,,,, 6289,hereditary_motor_and_sensory_neuropathy_with_agenesis_of_the_corpus_callosum,,,,,,C536446,G60.0, 6290,hereditary_multiple_osteochondromas,,,,,,,, 6291,hereditary_neuralgic_amyotrophy,hereditary_neuralgic_amyotrophy,,,,G58.7,,G54.5, 6292,hereditary_paraganglioma_pheochromocytoma_syndromes,,,,,,,, 6293,hereditary_sensory_and_autonomic_neuropathy_iv,hereditary_sensory_and_autonomic_neuropathy_4,,,,,,G60.8, 6294,hereditary_sensory_and_autonomic_neuropathy_type_ii,,,,,,,G60.8,398148000 6295,hereditary_sensory_neuropathy_type_ia,,,,,,,, 6296,heritable_pulmonary_arterial_hypertension,,,,,,,I27.0, 6297,hidrotic_ectodermal_dysplasia_2,hidrotic_ectodermal_dysplasia,,,,,,Q82.8,54209007 6298,holt_oram_syndrome,,,,,,C535326,Q87.2,19092004 6299,homocystinuria_caused_by_cystathionine_beta_synthase_deficiency,,,,,,,, 6300,huntington_disease_like_2,,,,,,,, 6301,hyalinosis_inherited_systemic,,,,,,,, 6302,hyperekplexia,hyperekplexia,,,,,,G25.8, 6303,hyperkalemic_periodic_paralysis_type_1,,,,,,,, 6304,hypomyelination_and_congenital_cataract,,,,,,,G37.8, 6305,ipex_syndrome,,,,,,,, 6306,irf6_related_disorders,,,,,,,, 6307,inclusion_body_myopathy_with_paget_disease_of_bone_and_or_frontotemporal_dementia,,,,,,,, 6308,isolated_gonadotropin_releasing_hormone_gnrh_deficiency,isolated_gonadotropin-releasing_hormone_deficiency,,,,,,, 6309,joubert_syndrome_and_related_disorders,,,,,,,, 6310,juvenile_hereditary_hemochromatosis,,,,,,,E74.0, 6311,juvenile_polyposis_syndrome,juvenile_polyposis_syndrome,,,,,,D12.6, 6312,kansl1_related_intellectual_disability_syndrome,,,,,,,, 6313,kat6b_related_disorders,,,,,,,, 6314,kcnq2_related_disorders,,,,,,,, 6315,kabuki_syndrome,kabuki_syndrome,,,,,C537705,Q87.0, 6316,kleefstra_syndrome,kleefstra_syndrome,,,,,,Q87.0, 6317,l1_syndrome,,,,,,,, 6318,lama2_related_muscular_dystrophy,,,,,,,, 6319,lis1_associated_lissencephaly_subcortical_band_heterotopia,,,,,,,, 6320,lmna_related_dilated_cardiomyopathy,,,,,,,, 6321,lrrk2_related_parkinson_disease,,,,,,,, 6322,laing_distal_myopathy,,,,,,,G71.0, 6323,legius_syndrome,legius_syndrome,,,,,C548032,L81.3, 6324,lenz_microphthalmia_syndrome,,,,,,,, 6325,leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement_and_lactate_elevation,,,,,,,E75.2, 6326,low_gamma_gt_familial_intrahepatic_cholestasis,,,,,,,, 6327,lymphedema_distichiasis_syndrome,lymphedema-distichiasis_syndrome,,,,,C537710,Q82.0,8634009 6328,lymphoproliferative_disease_x_linked,x-linked_lymphoproliferative_disease,,,,,,, 6329,lysinuric_protein_intolerance,lysinuric_protein_intolerance,,,,,,E72.0,303852004 6330,mapt_related_disorders,,,,,,,, 6331,mct8_specific_thyroid_hormone_cell_membrane_transporter_deficiency,,,,,,,, 6332,mecp2_duplication_syndrome,,,,,,,, 6333,mecp2_related_disorders,,,,,,,, 6334,med12_related_disorders,,,,,,,, 6335,mpv17_related_hepatocerebral_mitochondrial_dna_depletion_syndrome,,,,,,,, 6336,mutyh_associated_polyposis,,,,,,,, 6337,myh9_related_disorders,,,,,,,, 6338,majeed_syndrome,majeed_syndrome,,,,,C537839,D64.0, 6339,malignant_hyperthermia_susceptibility,,,,,,,, 6340,manitoba_oculotrichoanal_syndrome,,,,,,,Q87.8, 6341,marinesco_sjogren_syndrome_2,marinesco-sjogren_syndrome,,,,,,G11.1,80734006 6342,mckusick_kaufman_syndrome,,,,,,C538159,Q87.8, 6343,mcleod_neuroacanthocytosis_syndrome,,,,,,,, 6344,medium_chain_acyl_coenzyme_a_dehydrogenase_deficiency,,,,,,C536038,E71.3,128596003 6345,megalencephalic_leukoencephalopathy_with_subcortical_cysts,megalencephalic_leukoencephalopathy_with_subcortical_cysts,,,,,,E75.2, 6346,microphthalmia_with_linear_skin_defects_syndrome,,,,,,,, 6347,mitochondrial_dna_deletion_syndromes,,,,,,,, 6348,mitochondrial_dna_associated_leigh_syndrome_and_narp,,,,,,,, 6349,mitochondrial_disorders,mitochondrial_disorders,,,,,,, 6350,mitochondrial_neurogastrointestinal_encephalopathy_disease,mitochondrial_neurogastrointestinal_encephalopathy,,,,,,, 6351,mucolipidosis_ii,,,,,,C538602,E77.0,70199000 6352,mucolipidosis_iii_alpha_beta,,,,,,,, 6353,mucolipidosis_iii_gamma,,,,,,,E77.0, 6354,mucolipidosis_iv,,,,,,,E75.1,111384001 6355,multiminicore_disease,,,,,,,, 6356,multiple_cutaneous_and_mucosal_venous_malformations,,,,,,,Q27.8, 6357,multiple_epiphyseal_dysplasia_dominant,,,,,,,, 6358,multiple_epiphyseal_dysplasia_recessive,recessive_multiple_epiphyseal_dysplasia,,,,,,, 6359,myoclonus_dystonia,myoclonus-dystonia,,,,,,, 6360,myofibrillar_myopathy,,,,,,,G71.8, 6361,myopathy_with_deficiency_of_iscu,,,,,,,, 6362,myostatin_related_muscle_hypertrophy,myostatin-related_muscle_hypertrophy,,,,,,, 6363,ndp_related_retinopathies,,,,,,,, 6364,nsdhl_related_disorders,,,,,,,, 6365,neurodegeneration_with_brain_iron_accumulation_disorders,,,,,,,, 6366,neuroferritinopathy,neuroferritinopathy,,,,,C548080,G23.0, 6367,neuronal_ceroid_lipofuscinoses,,,,,,,, 6368,nonsyndromic_hearing_loss_and_deafness_dfna3,,,,,,,, 6369,nonsyndromic_hearing_loss_and_deafness_dfnb1,,,,,,,, 6370,nonsyndromic_hearing_loss_and_deafness_mitochondrial,,,,,,,, 6371,otof_related_deafness,,,,,,,, 6372,ocular_albinism_x_linked,ocular_albinism_type_1,,,,,,, 6373,oculocutaneous_albinism_type_1,oculocutaneous_albinism_type_1,,,,,,E70.3, 6374,oculocutaneous_albinism_type_2,,,,,,,, 6375,oculocutaneous_albinism_type_4,,,,,,,E70.3, 6376,optic_atrophy_type_1,optic_atrophy_1,,,,,,H47.2, 6377,oral_facial_digital_syndrome_type_i,,,,,,,Q87.0, 6378,otopalatodigital_spectrum_disorders,,,,,,,, 6379,pink1_type_of_young_onset_parkinson_disease,,,,,,,, 6380,pla2g6_associated_neurodegeneration,,,,,,,, 6381,plp1_related_disorders,,,,,,,, 6382,polg_related_disorders,,,,,,,, 6383,prickle1_related_progressive_myoclonus_epilepsy_with_ataxia,,,,,,,, 6384,prop1_related_combined_pituitary_hormone_deficiency,,,,,,,, 6385,prss1_related_hereditary_pancreatitis,,,,,,,, 6386,pten_hamartoma_tumor_syndrome,,,,,,,, 6387,parkin_type_of_early_onset_parkinson_disease,,,,,,,, 6388,pendred_syndrome_dfnb4,,,,,,,, 6389,permanent_neonatal_diabetes_mellitus,permanent_neonatal_diabetes_mellitus,,,,,,P70.2, 6390,peroxisome_biogenesis_disorders_zellweger_syndrome_spectrum,,,,,,,, 6391,perry_syndrome,,,,,,,, 6392,peters_plus_syndrome,peters-plus_syndrome,,,,,,Q13.4, 6393,phelan_mcdermid_syndrome,,,,,,,Q93.5, 6394,phosphoribosylpyrophosphate_synthetase_superactivity,,,,,,,E79.8, 6395,phosphorylase_kinase_deficiency,,,,,,,, 6396,pitt_hopkins_syndrome,,,,,,C537403,, 6397,pol_iii_related_leukodystrophies,,,,,,,E75.2|K00.0|E23.0, 6398,polycystic_kidney_disease_autosomal_dominant,autosomal_dominant_polycystic_kidney,,,,Q61.2,,, 6399,polycystic_kidney_disease_autosomal_recessive,autosomal_recessive_polycystic_kidney,,,,Q61.1,,, 6400,polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy,,,,,,C536329,E75.2, 6401,polymicrogyria,polymicrogyria,,,,,,Q04.3,4945003 6402,pontocerebellar_hypoplasia_type_2_and_type_4,,,,,,,, 6403,primary_autosomal_recessive_microcephaly,,,,,Q02,,, 6404,primary_congenital_glaucoma,,,,,,,, 6405,primary_hyperoxaluria_type_1,,,,,,D006959,E74.8, 6406,primary_hyperoxaluria_type_2,,,,,,,E74.8, 6407,progressive_myoclonus_epilepsy_lafora_type,,,,,,,, 6408,prothrombin_related_thrombophilia,,,,,,,, 6409,pseudohypoaldosteronism_type_ii,,,,,,C537288,Q87.8|I15.1,237850008|15689008 6410,pulmonary_fibrosis_familial,,,,,,,, 6411,pyridoxine_dependent_epilepsy,pyridoxine-dependent_epilepsy,,,,,C536254,G40.8,124596009 6412,rasa1_related_disorders,,,,,,,, 6413,ror2_related_robinow_syndrome,,,,,,,, 6414,rapid_onset_dystonia_parkinsonism,,,,,,,, 6415,red_green_color_vision_defects,,,,,,,, 6416,renal_coloboma_syndrome,renal-coloboma_syndrome,,,,,,Q14.2|Q60.4, 6417,rhizomelic_chondrodysplasia_punctata_type_1,,,,,,D018902,Q77.3,56692003 6418,rotor_syndrome,rotor_syndrome,,,,,,E80.6,32891000 6419,sall4_related_disorders,,,,,,,, 6420,scn1a_related_seizure_disorders,,,,,,,, 6421,scn9a_related_inherited_erythromelalgia,,,,,,,, 6422,shox_related_haploinsufficiency_disorders,,,,,,,, 6423,sox2_related_eye_disorders,,,,,,,, 6424,sucla2_related_mitochondrial_dna_depletion_syndrome_encephalomyopathic_form_with_mild_methylmalonic_aciduria,,,,,,,, 6425,syne1_related_autosomal_recessive_cerebellar_ataxia,,,,,,,, 6426,salih_myopathy,,,,,,,G71.8, 6427,schimke_immunoosseous_dysplasia,,,,,,C536629,, 6428,short_chain_acyl_coa_dehydrogenase_deficiency,,,,,,C537596,E71.3, 6429,shprintzen_goldberg_syndrome,,,,,Q75.0,,, 6430,shwachman_diamond_syndrome,,,,,,,D61.0, 6431,sickle_cell_disease,sickle-cell_disease,,,,D57,,, 6432,simpson_golabi_behmel_syndrome_type_1,,,,,,C537340,Q87.3,439143004 6433,sitosterolemia,sitosterolemia,,,,,C537345,E78.0|D69.1,238104009|60628003 6434,spastic_paraplegia_3a,,,,,,C536864,G11.4, 6435,spastic_paraplegia_7,,,,,,,G11.4, 6436,spastic_paraplegia_8,,,,,,C536867,G11.4, 6437,spastic_paraplegia_type_4,,,,,,C536865,G11.4, 6438,spastic_paraplegia_type_11,,,,,,C537483|C538335,G11.4, 6439,spinal_muscular_atrophy_x_linked_infantile,,,,,,,, 6440,spinocerebellar_ataxia_type_6,spinocerebellar_ataxia_type-6,,,,,,G11, 6441,spinocerebellar_ataxia_type_7,,,,,,,G11.8, 6442,spinocerebellar_ataxia_type_8,,,,,,,, 6443,spinocerebellar_ataxia_type_10,,,,,,,G11, 6444,spinocerebellar_ataxia_type_11,,,,,,,G11, 6445,spinocerebellar_ataxia_type_12,,,,,,,G11, 6446,spinocerebellar_ataxia_type_13,spinocerebellar_ataxia_type-13,,,,,C537195,G11, 6447,spinocerebellar_ataxia_type_14,,,,,,C537196,G11, 6448,spinocerebellar_ataxia_type_15,,,,,,,G11, 6449,spinocerebellar_ataxia_type_17,,,,,,,G11, 6450,spinocerebellar_ataxia_type_20,,,,,,C537199,G11, 6451,spinocerebellar_ataxia_type_28,,,,,,C537205,G11, 6452,spinocerebellar_ataxia_with_axonal_neuropathy_autosomal_recessive,,,,,,,G60.2, 6453,spondylocostal_dysostosis_autosomal_recessive,,,,,,,, 6454,tardbp_related_amyotrophic_lateral_sclerosis,,,,,,,, 6455,tfr2_related_hereditary_hemochromatosis,,,,,,,, 6456,tk2_related_mitochondrial_dna_depletion_syndrome_myopathic_form,,,,,,,, 6457,tetra_amelia_syndrome,tetra-amelia_syndrome,,,,,C536500,Q87.8|Q73.0, 6458,the_organic_acidemias_an,,,,,,,, 6459,thiamine_responsive_megaloblastic_anemia_syndrome,,,,,,C536510,D53.1,237617006 6460,thoracic_aortic_aneurysms_and_aortic_dissections,,,,,I71.0,,, 6461,tourette_disorder,,,,,F95.1,,, 6462,townes_brocks_syndrome,,,,,,C536974,Q87.8, 6463,trimethylaminuria,,,,,,C536561,E88.8,237959005 6464,troyer_syndrome,troyer_syndrome,,,,,,G11.4, 6465,tuberous_sclerosis_complex,,,,,,,, 6466,tyrosine_hydroxylase_deficiency,tyrosine_hydroxylase,,,,,,, 6467,umod_associated_kidney_disease,,,,,,,Q61.5, 6468,urod_related_porphyrias,,,,,,,, 6469,udd_distal_myopathy,,,,,,,, 6470,usher_syndrome_type_i,,,,,,,, 6471,usher_syndrome_type_ii,,,,,,,, 6472,vcan_related_vitreoretinopathy,,,,,,,, 6473,vldlr_associated_cerebellar_hypoplasia,,,,,,,, 6474,very_long_chain_acyl_coenzyme_a_dehydrogenase_deficiency,,,,,,C535690,E71.3,237997005|237996001 6475,was_related_disorders,,,,,,,, 6476,wfs1_related_disorders,,,,,,,, 6477,waardenburg_syndrome_type_i,,,,,,,E70.3, 6478,wilms_tumor,wilms_tumor,,,,,,, 6479,x_linked_adrenal_hypoplasia_congenita,x-linked_adrenal_hypoplasia_congenita,,,,,,, 6480,x_linked_centronuclear_myopathy,,,,,,C538647,G71.2,46804001 6481,x_linked_congenital_stationary_night_blindness,x-linked_congenital_stationary_night_blindness,,,,,,, 6482,x_linked_dystonia_parkinsonism,,,,,,,, 6483,x_linked_juvenile_retinoschisis,,,,,,,, 6484,x_linked_opitz_g_bbb_syndrome,,,,,,,, 6485,x_linked_periventricular_heterotopia,,,,,,,, 6486,x_linked_protoporphyria,,,,,,,, 6487,x_linked_spondyloepiphyseal_dysplasia_tarda,spondyloepiphyseal_dysplasia,,,,,,Q77.7,51952004 6488,y_chromosome_infertility,,,,,,,, 6489,zap70_related_severe_combined_immunodeficiency,,,,,,,, 6490,genereviews_illustrated_glossary_instructions,,,,,,,, 6491,illustrated_glossary,,,,,,,, 6492,aase_smith_syndrome,,,,,,C535332,Q87.8, 6493,abderhalden_kaufmann_lignac_syndrome,,,,,,,, 6494,abdominal_chemodectomas_with_cutaneous_angiolipomas,,,,,,,, 6495,abdominal_cystic_lymphangioma,,,,,,,, 6496,aberrant_subclavian_artery,aberrant_subclavian_artery,,,,,,, 6497,abidi_x_linked_mental_retardation_syndrome,,,,,,,, 6498,ablepharon_macrostomia_syndrome,ablepharon_macrostomia_syndrome,,,,,C535557,Q87.0, 6499,abrikosovs_tumor,,,,,,,, 6500,abruzzo_erickson_syndrome,,,,,,C535559,Q87.8, 6501,absence_of_fingerprints_congenital_milia,,,,,,,Q82.8, 6502,absence_of_gluteal_muscle,absence_of_gluteal_muscle,,,,,,, 6503,absence_of_septum_pellucidum,,,,,,,, 6504,absence_of_tibia,,,,,,,Q72.5, 6505,absence_of_tibia_with_polydactyly,,,,,,C535564,Q87.2, 6506,absent_breasts_and_nipples,congenital_absence_of_breast_with_absent_nipple,,,,,,, 6507,absent_patella,absent_patella,,,,,,Q74.1, 6508,absent_t_lymphocytes,,,,,,,, 6509,abuse_dwarfism_syndrome,,,,,,,, 6510,acalvaria,acalvaria,,,,,C535570|D009436,Q75.8,203923004|36745003 6511,acanthamoeba_infection,acanthamoeba_infection,,,,,,, 6512,acanthocheilonemiasis,acanthocheilonemiasis,,,,,,, 6513,acanthocytosis,acanthocytosis,,,,,,, 6514,acanthosis_nigricans_muscle_cramps_acral_enlargement,,,,,,,, 6515,acardia,acardia,,,,,,, 6516,accessory_deep_peroneal_nerve,,,,,,,, 6517,accessory_navicular_bone,,,,,,,, 6518,accessory_pancreas,accessory_pancreas,,,,,C536003,Q45.3,79037006 6519,acdc,,,,,,,, 6520,acetyl_coa_acetyltransferase_2_deficiency,,,,,,,, 6521,acetyl_carnitine_deficiency,carnitine_acetyl_transferase,,,,,,, 6522,achalasia_microcephaly_syndrome,,,,,,C536010,Q39.5, 6523,achalasia_familial_esophageal,,,,,,C536011,K22.0, 6524,achard_thiers_syndrome,,,,,,,, 6525,achondroplasia_and_severe_combined_immunodeficiency,,,,,,,D82.2, 6526,achondroplasia_and_swiss_type_agammaglobulinemia,,,,,,,, 6527,achromatopsia_2,,,,,,,H53.5,56852002 6528,achromatopsia_3,,,,,,C538128,,254096001 6529,acitretin_embryopathy,,,,,,,Q86.8, 6530,ackerman_syndrome,ackerman_syndrome,,,,,C538170,K00.2, 6531,acquired_agranulocytosis,,,,,,,, 6532,acquired_angioedema,,,,,,C538173,T78.3, 6533,acquired_fructose_intolerance,,,,,,,, 6534,acquired_hemophilia,,,,,,,D68.4|D80.8, 6535,acquired_hypoprothrombinemia,,,,,,,D68.4, 6536,acquired_pure_red_cell_aplasia,,,,,D60,,D60.0, 6537,acquired_von_willebrand_syndrome,,,,,,,D68.4,234451005 6538,acral_dysostosis_dyserythropoiesis_syndrome,,,,,,,, 6539,acro_coxo_mesomelic_dysplasia,,,,,,,, 6540,acro_pectoro_renal_field_defect,,,,,,,, 6541,acrocephalopolydactylous_dysplasia,,,,,,,, 6542,acrocephalopolydactyly,,,,,,,Q87.0, 6543,acrodysplasia_scoliosis,,,,,,,, 6544,acrodysplasia_with_ossification_abnormalities_short_stature_and_fibular_hypoplasia,,,,,,,, 6545,acrofacial_dysostosis_catania_type,,,,,,C538182,Q75.4, 6546,acrofacial_dysostosis_palagonia_type,,,,,,C538185,Q75.4, 6547,acrofacial_dysostosis_preis_type,,,,,,,, 6548,acrofacial_dysostosis_rodriguez_type,,,,,,C538183,Q75.4, 6549,acrofrontofacionasal_dysostosis_syndrome,,,,,,,Q75.1, 6550,acrogeria_gottron_type,acrogeria,,,,,C538187,,238872007|238871000 6551,acrokeratoelastoidosis_of_costa,acrokeratoelastoidosis_of_costa,,,,,C535653,Q82.8,111029001 6552,acromegaloid_changes_cutis_verticis_gyrata_and_corneal_leukoma,,,,,,,, 6553,acromegaloid_facial_appearance_syndrome,,,,,,C535655,Q87.0, 6554,acromegaloid_features_overgrowth_cleft_palate_and_hernia,,,,,,,, 6555,acromegaloid_hypertrichosis_syndrome,,,,,,,, 6556,acromelanosis,acromelanosis,,,,,,L81.4,239089006 6557,acromelic_frontonasal_dysostosis,,,,,,,, 6558,acromesomelic_dysplasia_campailla_martinelli_type,,,,,,,, 6559,acromicric_dysplasia,acromicric_dysplasia,,,,,C535662,Q77.8,254090007 6560,acroosteolysis_dominant_type,,,,,,,, 6561,acropectoral_syndrome,acropectoral_syndrome,,,,,,Q74.0, 6562,acropectorovertebral_dysplasia_f_form,,,,,,,Q68.1|Q78.8, 6563,acrorenal_mandibular_syndrome,,,,,,,, 6564,acrorenal_syndrome_recessive,,,,,,,, 6565,acrospiroma,acrospiroma,,,,,,, 6566,acth_independent_macronodular_adrenal_hyperplasia,,,,,,,E24.8, 6567,actinic_cheilitis,actinic_cheilitis,,,,,,, 6568,acute_articular_rheumatism,,,,,,,, 6569,acute_biphenotypic_leukemia,biphenotypic_acute_leukemia,,,,,D015456,C95.0,128818009|278453007|397345009 6570,acute_cholinergic_dysautonomia,,,,,,,, 6571,acute_erythroblastic_leukemia,acute_erythroblastic_leukemia,,,,,,, 6572,acute_erythroid_leukemia,acute_erythroid_leukemia,,,,C94.0,,C94.0, 6573,acute_fatty_liver_of_pregnancy,acute_fatty_liver_of_pregnancy,,,,,C537957,O26.6,91162000 6574,acute_febrile_neutrophilic_dermatosis,,,,,,D016463,L98.2,84625002 6575,acute_graft_versus_host_disease,,,,,,,T86.0,402355000 6576,acute_lymphoblastic_leukemia,acute_lymphoblastic_leukemia,,,,C91.0,,, 6577,acute_lymphoblastic_leukemia_congenital_sporadic_aniridia,,,,,,,, 6578,acute_lymphoblastic_leukemia_childhood,,,,,,,, 6579,acute_mountain_sickness,acute_mountain_sickness,,,,,,, 6580,acute_myeloblastic_leukemia_type_1,acute_myeloblastic_leukemia_type_1,,,,,,, 6581,acute_myeloblastic_leukemia_type_2,acute_myeloblastic_leukemia_type_2,,,,,,, 6582,acute_myeloblastic_leukemia_type_3,acute_myeloblastic_leukemia_type_3,,,,,,, 6583,acute_myeloblastic_leukemia_type_4,acute_myeloblastic_leukemia_type_4,,,,,,, 6584,acute_myeloblastic_leukemia_type_5,acute_myeloblastic_leukemia_type_5,,,,,,, 6585,acute_myeloblastic_leukemia_type_6,acute_myeloblastic_leukemia_type_6,,,,,,, 6586,acute_myeloblastic_leukemia_type_7,acute_myeloblastic_leukemia_type_7,,,,,,, 6587,acute_myeloblastic_leukemia_with_maturation,acute_myeloblastic_leukemia_with_maturation,,,,,,C92.0, 6588,acute_myeloblastic_leukemia_without_maturation,acute_myeloblastic_leukemia_without_maturation,,,,C92.0,,C92.0, 6589,acute_myeloid_leukemia_adult,,,,,,,, 6590,acute_myeloid_leukemia_childhood,,,,,,,, 6591,acute_myelomonocytic_leukemia,acute_myelomonocytic_leukemia,,,,C92.5,D015479,C92.5,30962008 6592,acute_non_lymphoblastic_leukemia,,,,,,,, 6593,acute_promyelocytic_leukemia,acute_promyelocytic_leukemia,,,,C92.4,D015473,C92.4,28950004 6594,acute_zonal_occult_outer_retinopathy,acute_zonal_occult_outer_retinopathy,,,,,,, 6595,adactylia_unilateral,,,,,,,, 6596,adams_oliver_syndrome,,,,,,C538225,Q87.2,34748004 6597,adducted_thumb_and_clubfoot_syndrome,,,,,,,, 6598,adducted_thumbs_dundar_type,,,,,,,, 6599,adenoameloblastoma,,,,,,,, 6600,adenocarcinoid_tumor,,,,,,,, 6601,adenomyosis,adenomyosis,,,,,,, 6602,adenosarcoma_of_the_uterus,adenosarcoma_of_the_uterus,,,,,,, 6603,adenosine_monophosphate_deaminase_1_deficiency,adenosine_monophosphate_deaminase_deficiency,,,,,,, 6604,adenylosuccinase_deficiency,,,,,,C538235,E79.8,15285008 6605,adnexal_spiradenoma_cylindroma_of_a_sweat_gland,,,,,,,, 6606,adrenomyeloneuropathy,adrenomyeloneuropathy,,,,,,, 6607,adrenomyodystrophy,adrenomyodystrophy,,,,,C538051,, 6608,adult_neuronal_ceroid_lipofuscinosis,,,,,,,, 6609,adult_progressive_spinal_muscular_atrophy_aran_duchenne_type,,,,,,,, 6610,adult_onset_citrullinemia_type_ii,,,,,,,E72.2, 6611,adult_onset_vitelliform_macular_dystrophy,,,,,,,, 6612,aerobic_actinomyces_infection,,,,,,,, 6613,afibrinogenemia,afibrinogenemia,,,,,,, 6614,agammaglobulinemia_x_linked_type_2,,,,,,,, 6615,agammaglobulinemia_microcephaly_and_severe_dermatitis,,,,,,,, 6616,agammaglobulinemia_non_bruton_type,,,,,,,, 6617,aganglionosis_total_intestinal,,,,,,,, 6618,agenesis_of_the_dorsal_pancreas,,,,,,,, 6619,aglossia_and_situs_inversus,,,,,,,, 6620,agnathia_microstomia_synotia,,,,,,,, 6621,agyria_pachygyria_polymicrogyria,,,,,,,, 6622,agyria_pachygyria_type_1,,,,,,,, 6623,ahumada_del_castillo_syndrome,,,,,,,, 6624,aicardi_goutieres_syndrome_type_1,,,,,,,, 6625,aicardi_goutieres_syndrome_type_2,,,,,,,, 6626,aicardi_goutieres_syndrome_type_3,,,,,,,, 6627,aicardi_goutieres_syndrome_type_4,,,,,,,, 6628,aicardi_goutieres_syndrome_type_5,,,,,,,, 6629,aids_dementia_complex,aids_dementia_complex,,,,,,, 6630,aids_dysmorphic_syndrome,,,,,,,, 6631,akaba_hayasaka_syndrome,,,,,,,, 6632,akesson_syndrome,,,,,,,, 6633,aksu_von_stockhausen_syndrome,,,,,,,, 6634,al_amyloidosis,,,,,E85|E85.9,,, 6635,al_gazali_aziz_salem_syndrome,,,,,,,Q87.8, 6636,al_gazali_khidr_prem_chandran_syndrome,,,,,,,, 6637,al_gazali_sabrinathan_nair_syndrome,,,,,,,Q87.5, 6638,al_gazali_syndrome,,,,,,,, 6639,al_gazali_donnai_mueller_syndrome,,,,,,,, 6640,alaninuria_with_microcephaly_dwarfism_enamel_hypoplasia_and_diabetes_mellitus,stimmler_syndrome,,,,,,, 6641,albinism_deafness_syndrome_2,albinism-deafness_syndrome,,,,,C537042,H90.5, 6642,albinism_immunodeficiency,albinism_immunodeficiency,,,,,,, 6643,albinism_ocular_late_onset_sensorineural_deafness,,,,,,C537043,E70.3|H90.5, 6644,albinism_minimal_pigment_type,,,,,,,, 6645,albright_like_syndrome,,,,,,,, 6646,aldred_syndrome,,,,,,,, 6647,alk_histiocytosis,,,,,,,, 6648,allain_babin_demarquez_syndrome,,,,,,,Q87.0, 6649,allergic_angiitis,allergic_angiitis,,,,,,, 6650,allergic_autoimmune_thyroiditis,,,,,,,, 6651,allergic_encephalomyelitis,,,,,,,, 6652,aloi_tomasini_isaia_syndrome,,,,,,,, 6653,alopecia_congenita_keratosis_palmoplantaris,alopecia_congenita_with_keratosis_palmoplantaris,,,,,,, 6654,alopecia_contractures_dwarfism_mental_retardation,alopecia_contractures_dwarfism_mental_retardation,,,,,,, 6655,alopecia_epilepsy_oligophrenia_syndrome_of_moynahan,,,,,,,, 6656,alopecia_immunodeficiency,,,,,,,, 6657,alopecia_macular_degeneration_growth_retardation,,,,,,,, 6658,alopecia_mental_retardation_syndrome_1,,,,,,,, 6659,alopecia_mental_retardation_syndrome_2,,,,,L63.9,,, 6660,alopecia_totalis,alopecia_totalis,,,,L63.0,,L63.0,19754005 6661,alopecia_universalis_onychodystrophy_vitiligo,,,,,,,, 6662,alopecia_epilepsy_pyorrhea_mental_subnormality,,,,,,,, 6663,alpha_mannosidosis_type_2,,,,,,,, 6664,alpha_2_deficient_collagen_disease,,,,,,,, 6665,alpha_ketoglutarate_dehydrogenase_deficiency,,,,,,C536582,E88.8, 6666,alpha_mannosidosis_type_1,,,,,,,, 6667,alpha_thalassemia_abnormal_morphogenesis,,,,,,,, 6668,als_like_syndrome_of_encephalomyopathy,,,,,,,, 6669,alsing_syndrome,,,,,,,, 6670,aluminium_lung,aluminium_lung,,,,,,, 6671,alveolar_capillary_dysplasia,alveolar_capillary_dysplasia,,,,,,, 6672,alzheimer_disease_type_3,,,,,,,, 6673,alzheimer_disease_type_4,,,,,,,, 6674,alzheimers_disease_without_neurofibrillary_tangles,,,,,,,, 6675,amaurosis_congenita_cone_rod_type_with_congenital_hypertrichosis,,,,,,,, 6676,amaurosis_fugax,amaurosis_fugax,,,,G45.3,,, 6677,ambras_syndrome,ambras_syndrome,,,,,,, 6678,amelia_cleft_lip_palate_hydrocephalus_iris_coloboma,,,,,Q35|Q37|Q37.8|Q37.9,,, 6679,ameloblastic_carcinoma,,,,,,,, 6680,amelogenesis_imperfecta_hypomaturation_type,,,,,,,, 6681,amelogenesis_imperfecta_hypoplastic_type_ig,,,,,,C538241,K00.5,109477002 6682,amelogenesis_imperfecta_hypoplastic_hypomaturation_x_linked_1,,,,,,,, 6683,amelogenesis_imperfecta_local_hypoplastic,,,,,,,, 6684,amelogenesis_imperfecta_pigmented_hypomaturation_type,,,,,,,, 6685,amelogenesis_imperfecta_hypoplastic_hypomaturation_x_linked_2,,,,,,,, 6686,ameloonychohypohidrotic_syndrome,,,,,,,Q82.4, 6687,amino_aciduria_with_mental_deficiency_dwarfism_muscular_dystrophy_osteoporosis_and_acidosis,,,,,,,, 6688,aminoacidopathies,,,,,,,, 6689,aminoaciduria,aminoaciduria,,,,,,, 6690,aminoacylase_1_deficiency,,,,,,,, 6691,aminolevulinate_dehydratase_deficiency_porphyria,,,,,,,, 6692,amniotic_band_syndrome,amniotic_band_syndrome,,,,,D000652,Q79.8, 6693,ampola_syndrome,,,,,,,, 6694,amyloid_neuropathy,,,,,,,, 6695,amyloidosis_aa,,,,,,,, 6696,amyloidosis_beta2m,,,,,,,E85.3, 6697,amyloidosis_bronchopulmonary,,,,,,,, 6698,amyloidosis_cerebral,,,,,,,, 6699,amyloidosis_corneal,,,,,,C535480,H18.5,418946006 6700,amyloidosis_nodular_localized_cutaneous,,,,,,,, 6701,amyloidosis_of_gingiva_and_conjunctiva_with_mental_retardation,,,,,,,, 6702,amyopathic_dermatomyositis,,,,,,,, 6703,amyoplasia_mandibulofacial_dysostosis,,,,,,,, 6704,amyotonia_congenita,amyotonia_congenita,,,,,,, 6705,amyotrophic_lateral_sclerosis_type_10,,,,,,,, 6706,amyotrophic_lateral_sclerosis_type_11,,,,,,,, 6707,amyotrophic_lateral_sclerosis_type_3,,,,,,,, 6708,amyotrophic_lateral_sclerosis_type_5,,,,,,,, 6709,amyotrophic_lateral_sclerosis_type_6,,,,,,,, 6710,amyotrophic_lateral_sclerosis_type_7,,,,,,,, 6711,amyotrophic_lateral_sclerosis_type_9,,,,,,,, 6712,amyotrophic_lateral_sclerosis_parkinsonism_dementia_complex_1,,,,,,,G12.2|G31.0, 6713,amyotrophy_neurogenic_scapuloperoneal_new_england_type,,,,,,,, 6714,anal_sphincter_dysplasia,,,,,,,, 6715,anaplastic_astrocytoma,anaplastic_astrocytoma,,,,,,, 6716,anaplastic_ependymoma,,,,,,,, 6717,anaplastic_ganglioglioma,,,,,,,, 6718,anaplastic_oligoastrocytoma,,,,,,,, 6719,anaplastic_oligodendroglioma,,,,,,,, 6720,anaplastic_plasmacytoma,,,,,,,, 6721,anaplastic_small_cell_lymphoma,,,,,,,, 6722,androgen_insensitivity_syndrome_mild,mild_androgen_insensitivity_syndrome,,,,,,, 6723,androgen_insensitivity_syndrome_partial,partial_androgen_insensitivity_syndrome,,,,,,, 6724,androgenetic_alopecia,androgenetic_alopecia,,,,L64,,, 6725,anemia_due_to_adenosine_triphosphatase_deficiency,,,,,,,D55.3, 6726,anencephaly,anencephaly,,,,Q00.0,,, 6727,anencephaly_and_spina_bifida_x_linked,,,,,,,, 6728,aneurysm_of_sinus_of_valsalva,aneurysm_of_sinus_of_valsalva,,,,,,Q25.4, 6729,aneurysm_intracranial_berry_2,,,,,,,, 6730,aneurysmal_bone_cysts,aneurysmal_bone_cyst,,,,M85.5,,, 6731,angel_shaped_phalangoepiphyseal_dysplasia,,,,,,,Q78.8, 6732,angiofollicular_ganglionic_hyperplasia,,,,,,,, 6733,angiofollicular_lymph_hyperplasia,angiofollicular_lymph_node_hyperplasia,,,,,,, 6734,angioimmunoblastic_lymphadenopathy_with_dysproteinemia,angioimmunoblastic_lymphadenopathy_with_dysproteinemia,,,,,,, 6735,angiokeratoma_mental_retardation_coarse_face,,,,,,,, 6736,angioma_hereditary_neurocutaneous,,,,,,C536364,D18.0,403775003 6737,angioma_serpiginosum_autosomal_dominant,,,,,,,, 6738,angioma_serpiginosum_x_linked,,,,,,,, 6739,angiomatosis_diffuse_corticomeningeal_of_divry_and_van_bogaert,,,,,,,, 6740,angiomatosis_leptomeningeal_capillary_venous,,,,,,,, 6741,angiomatous_lymphoid_hamartoma,,,,,,,, 6742,angiomyomatous_hamartoma,,,,,,,, 6743,angiosarcoma_of_the_scalp,,,,,,,, 6744,aniridia_absent_patella,,,,,,,Q87.8, 6745,aniridia_ataxia_renal_agenesis_psychomotor_retardation,aniridia_ataxia_renal_agenesis_psychomotor_retardation,,,,,,, 6746,aniridia_mental_retardation_syndrome,,,,,,,, 6747,aniridia_ptosis_mental_retardation_obesity_familial,,,,,,,, 6748,aniridia_renal_agenesis_psychomotor_retardation,,,,,,C536371,Q87.8, 6749,aniridia_cerebellar_ataxia_and_mental_deficiency,,,,,,,, 6750,ankle_defects_short_stature,,,,,,,, 6751,ankyloblepharon_filiforme_adnatum_cleft_palate,,,,,,,, 6752,ankyloblepharon_filiforme_imperforate_anus,,,,,,,Q87.8, 6753,annular_constricting_bands,,,,,,,, 6754,annular_pancreas,,,,,Q45.1,C536376,Q45.1,40315008 6755,anomalous_origin_of_right_pulmonary_artery_familial,,,,,,,, 6756,anonychia_ectrodactyly,,,,,,,, 6757,anonychia_onychodystrophy,,,,,,C536378,Q84.3, 6758,anonychia_total_with_microcephaly,,,,,,,, 6759,anonychia_onychodystrophy_with_brachydactyly_type_b_and_ectrodactyly,,,,,,,, 6760,anonychia_onychodystrophy_with_hypoplasia_or_absence_of_distal_phalanges,cooks_syndrome,,,,,,Q84.6, 6761,anophthalmia_cleft_lip_palate_hypothalamic_disorder,,,,,K13.0,,, 6762,anophthalmia_cleft_palate_micrognathia,,,,,,,, 6763,anophthalmia_esophageal_atresia_cryptorchidism,,,,,,,, 6764,anophthalmia_megalocornea_cardiopathy_skeletal_anomalies,,,,,,,Q87.8, 6765,anophthalmia_microcephaly_hypogonadism,,,,,,,, 6766,anophthalmia_or_microphthalmia_retinal_dystrophy_and_or_myopia_associated_with_brain_anomalies,,,,,,,, 6767,anophthalmia_plus_syndrome,,,,,,C537767,Q02, 6768,anophthalmos_with_limb_anomalies,,,,,,,, 6769,anorchia,anorchia,,,,,,Q55.0, 6770,anorectal_atresia,anorectal_atresia,,,,,,, 6771,anotia_facial_palsy_cardiac_defect,,,,,,,, 6772,antecubital_pterygium,,,,,,,, 6773,anterior_pituitary_insufficiency_familial,,,,,,,, 6774,anterior_polar_cataract_2,,,,,,,, 6775,anterior_segment_mesenchymal_dysgenesis,anterior_segment_mesenchymal_dysgenesis,,,,,,Q13.8, 6776,anterior_spinal_artery_stroke,,,,,,,, 6777,anterior_uveitis,,,,,,,, 6778,anti_hla_hyperimmunization,,,,,,,, 6779,anti_plasmin_deficiency_congenital,,,,,,,D68.8, 6780,antigen_peptide_transporter_2_deficiency,,,,,,,, 6781,antihypertensive_drugs_antenatal_infection,,,,,,,, 6782,antisynthetase_syndrome,antisynthetase_syndrome,,,,,C537778,D89.8,445187004 6783,antons_syndrome,,,,,,,, 6784,aorta_pulmonary_artery_fistula,,,,,,C537782,Q21.4, 6785,aortic_aneurysm_familial_thoracic_4,,,,,,,, 6786,aortic_arch_anomaly_with_peculiar_facies_and_mental_retardation,,,,,,,, 6787,aortic_arch_interruption,aortic_arch_interruption,,,,,,Q25.4,218728005 6788,aortic_coarctation,aortic_coarctation,,,,Q25.1,D001017|C531623,Q25.1,7305005 6789,aortic_dissection_lentiginosis,,,,,,,, 6790,aortic_valves_stenosis_of_the_child,,,,,,,, 6791,aortopulmonary_window,aortopulmonary_window,,,,Q21.4,,, 6792,apert_like_polydactyly_syndrome,,,,,,,, 6793,aphalangia_partial_with_syndactyly_and_duplication_of_metatarsal_iv,,,,,,,, 6794,aplasia_cutis_autosomal_recessive,,,,,,,, 6795,aplasia_cutis_congenita,aplasia_cutis_congenita,,,,,,, 6796,aplasia_cutis_congenita_dominant,,,,,,,, 6797,aplasia_cutis_congenita_intestinal_lymphangiectasia,,,,,,C537788,, 6798,aplasia_cutis_congenita_of_limbs_recessive,,,,,,C536840,Q84.8, 6799,aplasia_cutis_congenita_recessive,,,,,,,, 6800,aplasia_cutis_myopia,,,,,,,, 6801,apo_a_i_deficiency,,,,,,,, 6802,apolipoprotein_c_2i_deficiency,,,,,,,, 6803,apudoma,apudoma,,,,,,, 6804,aquagenic_pruritus,aquagenic_pruritus,,,,,,, 6805,aquagenic_urticaria,aquagenic_urticaria,,,,,,, 6806,arachindonic_acid_absence_of,,,,,,,, 6807,arachnodactyly_mental_retardation_dysmorphism,,,,,,,, 6808,arachnoid_cysts,arachnoid_cyst,,,,,D016080,G93.0,33595009 6809,arakawas_syndrome_2,,,,,,,, 6810,arbovirosis,arbovirosis,,,,,,, 6811,aredyld,,,,,,C537427,Q87.8, 6812,arena_syndrome,,,,,,,, 6813,arhinia_choanal_atresia_microphthalmia,,,,,,,, 6814,arnold_stickler_bourne_syndrome,,,,,,,, 6815,aromatase_deficiency,aromatase_deficiency,,,,,C537436,E25.8, 6816,aromatic_amino_acid_decarboxylase_deficiency,,,,,,,G24.8,124600004 6817,arrhinia,arrhinia,,,,,C537438,Q30.1,111317000 6818,arroyo_garcia_cimadevilla_syndrome,,,,,,,, 6819,arterial_calcification_of_infancy,,,,,,C537440,Q28.8,68926002 6820,arthritis_short_stature_deafness,,,,,,,, 6821,arthrogryposis_and_ectodermal_dysplasia,,,,,,,, 6822,arthrogryposis_distal_type_2b,,,,,,,, 6823,arthrogryposis_due_to_muscular_dystrophy,,,,,,,M62.8, 6824,arthrogryposis_epileptic_seizures_migrational_brain_disorder,,,,,,C537442,, 6825,arthrogryposis_iugr_thoracic_dystrophy,,,,,,,, 6826,arthrogryposis_like_disorder,,,,,,,, 6827,arthrogryposis_multiplex_congenita_cns_calcification,,,,,,,, 6828,arthrogryposis_multiplex_congenita_distal,,,,,,,, 6829,arthrogryposis_multiplex_congenita_distal_type_1,,,,,,,Q74.3, 6830,arthrogryposis_multiplex_congenita_neurogenic_type,,,,,,C536614,Q74.3, 6831,arthrogryposis_multiplex_congenita_pulmonary_hypoplasia,,,,,,,, 6832,arthrogryposis_multiplex_congenita_whistling_face,,,,,,C538401,Q87.8, 6833,arthrogryposis_multiplex_congenita_distal_type_2,,,,,,,, 6834,arthrogryposis_multiplex_congenita_distal_x_linked,,,,,,,, 6835,arthrogryposis_multiplex_with_deafness_inguinal_hernias_and_early_death,,,,,,,, 6836,arthrogryposis_spinal_muscular_atrophy,,,,,,,, 6837,arthrogryposis_distal_type_2e,,,,,,,, 6838,arthrogryposis_distal_with_hypopituitarism_mental_retardation_and_facial_anomalies,,,,,,,, 6839,arthrogryposis_ectodermal_dysplasia_cleft_lip_palate_and_developmental_delay,,,,,,C535465|C538135,Q87.8, 6840,arthrogryposis_like_hand_anomaly_and_sensorineural_deafness,,,,,,,Q68.1, 6841,aschers_syndrome,,,,,,,,28599006 6842,ashermans_syndrome,,,,,,,N85.6,361115000|48236007 6843,aspergillus_niger_infection,,,,,,,, 6844,asrar_facharzt_haque_syndrome,,,,,,,, 6845,asternia,,,,,,,, 6846,asternia_with_cardiac_diaphragmatic_and_abdominal_defects,,,,,,,, 6847,astley_kendall_syndrome,,,,,,,Q77.3,389263004 6848,ataxia_telangiectasia_variant_v1,,,,,,,, 6849,atelosteogenesis_type_1,,,,,,,, 6850,atelosteogenesis_type_3,,,,,,,Q78.8, 6851,athetosis,athetosis,,,,,,, 6852,atkin_syndrome,,,,,,,Q87.8, 6853,atlanto_axial_fusion,,,,,,,, 6854,atresia_of_small_intestine,,,,,,C538260,Q41,204702007|360491009|84296002 6855,atrial_myxoma_familial,,,,,,C538262,, 6856,atrial_septal_defect_coronary_sinus,,,,,,,Q21.1, 6857,atrial_septal_defect_ostium_primum,,,,,,,, 6858,atrial_septal_defect_sinus_venosus,sinus_venosus_atrial_septal_defect,,,,,C548009,Q21.1,95268002 6859,atrophoderma_of_pierini_and_pasini,atrophoderma_of_pasini_and_pierini,,,,L90.3,,, 6860,atrophodermia_vermiculata,atrophodermia_vermiculata,,,,L66.4,,, 6861,attenuated_familial_adenomatous_polyposis,attenuated_familial_adenomatous_polyposis,,,,,C538265,D12.6, 6862,atypical_lipodystrophy,,,,,,,, 6863,atypical_mole_syndrome,familial_atypical_multiple_mole_melanoma_syndrome,,,,,,, 6864,atypical_mycobacteriosis_familial,,,,,,,A31.9, 6865,atypical_rett_syndrome,,,,,,,, 6866,auditory_neuropathy,auditory_neuropathy,,,,,,, 6867,auditory_perceptual_disorder,auditory_perceptual_disorders,,,,,,, 6868,auralcephalosyndactyly,,,,,,,Q87.0, 6869,auriculo_condylar_syndrome,,,,,K07.6,C538270,Q75.8, 6870,auriculoosteodysplasia,,,,,,C538271,, 6871,ausems_wittebol_post_hennekam_syndrome,,,,,,,, 6872,autism_with_port_wine_stain,,,,,,,, 6873,autoimmune_atrophic_gastritis,,,,,,,, 6874,autoimmune_enteropathy,,,,,,,, 6875,autoimmune_inner_ear_disease,autoimmune_inner_ear_disease,,,,,,, 6876,autoimmune_myocarditis,,,,,,,, 6877,autoimmune_oophoritis,,,,,,,, 6878,autoimmune_pancreatitis,autoimmune_pancreatitis,,,,,,K86.1, 6879,autoimmune_polyglandular_syndrome_type_2,,,,,,,, 6880,autoimmune_polyglandular_syndrome_type_3,,,,,,,, 6881,autoimmune_progesterone_dermatitis,autoimmune_progesterone_dermatitis,,,,,,, 6882,autosomal_dominant_alport_syndrome,,,,,,C536586,Q87.8, 6883,autosomal_dominant_compelling_helio_ophthalmic_outburst_syndrome,,,,,,,, 6884,autosomal_dominant_neuronal_ceroid_lipofuscinosis_4b,,,,,,,E75.4, 6885,autosomal_dominant_optic_atrophy_hearing_loss_and_peripheral_neuropathy,,,,,,,, 6886,autosomal_dominant_pseudohypoaldosteronism_type_1,,,,,,,N25.8, 6887,autosomal_recessive_alport_syndrome,,,,,,D009394,Q87.8,399340005 6888,autosomal_recessive_cerebellar_ataxia_with_cabc1_adck3_gene_mutations,,,,,,,, 6889,autosomal_recessive_hyper_ige_syndrome,,,,,,,D82.4|D81.1, 6890,autosomal_recessive_juvenile_parkinson_disease,parkinson_disease_2,,,,,,, 6891,autosomal_recessive_neuronal_ceroid_lipofuscinosis_4a,,,,,,,E75.4, 6892,autosomal_recessive_nonsyndromic_congenital_nuclear_cataract,,,,,,,, 6893,autosomal_recessive_optic_atrophy_hearing_loss_and_peripheral_neuropathy,,,,,,,, 6894,autosomal_recessive_pseudohypoaldosteronism_type_1,,,,,,,, 6895,autosomal_recessive_spastic_ataxia_4,,,,,,,, 6896,axenfeld_rieger_syndrome_type_1,,,,,,C535679,Q13.8,204154009|267585008|417604002|47507006 6897,axenfeld_rieger_syndrome_type_2,,,,,,,, 6898,axenfeld_rieger_syndrome_type_3,,,,,,,, 6899,axial_mesodermal_dysplasia_spectrum,,,,,,C537790,Q87.8, 6900,axial_osteosclerosis,,,,,,,Q78.2, 6901,axial_spondylometaphyseal_dysplasia,,,,,,C535795,Q77.8, 6902,ayazi_syndrome,ayazi_syndrome,,,,,,, 6903,b_cell_prolymphocytic_leukemia,b-cell_prolymphocytic_leukemia,,,,C91.3,D054403,C91.3,128820007|277619001 6904,b_cell_lymphomas,,,,,,,, 6905,baby_rattle_pelvic_dysplasia,,,,,,,, 6906,baetz_greenwalt_syndrome,,,,,,,, 6907,bagatelle_cassidy_syndrome,,,,,,,, 6908,baker_vinters_syndrome,,,,,,,, 6909,balo_disease,,,,,,,, 6910,balos_concentric_sclerosis,balo_concentric_sclerosis,,,,,,G37.5, 6911,bamforth_syndrome,,,,,,,, 6912,banf_acoustic_neurinoma,,,,,,,, 6913,banki_syndrome,,,,,,,Q68.1, 6914,bantis_syndrome,,,,,,,, 6915,bantu_siderosis,bantu_siderosis,,,,,,E83.1, 6916,baraitser_brett_piesowicz_syndrome,,,,,,,, 6917,baraitser_rodeck_garner_syndrome,,,,,,,, 6918,baraitser_winter_syndrome,,,,,,,Q04.3|Q15.8, 6919,barakat_syndrome,barakat_syndrome,,,,,,Q87.8, 6920,barber_say_syndrome,,,,,,C537908,Q87.0,408537003 6921,bardet_biedl_syndrome_1,,,,,,,, 6922,bardet_biedl_syndrome_10,,,,,,,, 6923,bardet_biedl_syndrome_11,,,,,,,, 6924,bardet_biedl_syndrome_12,,,,,,,, 6925,bardet_biedl_syndrome_2,,,,,,,, 6926,bardet_biedl_syndrome_3,,,,,,,, 6927,bardet_biedl_syndrome_4,,,,,,,, 6928,bardet_biedl_syndrome_5,,,,,,,, 6929,bardet_biedl_syndrome_6,,,,,,,, 6930,bardet_biedl_syndrome_7,,,,,,,, 6931,bardet_biedl_syndrome_8,,,,,,,, 6932,bardet_biedl_syndrome_9,,,,,,,, 6933,bare_lymphocyte_syndrome,bare_lymphocyte_syndrome,,,,,,, 6934,barnicoat_baraitser_syndrome,,,,,,,, 6935,baroreflex_failure,,,,,,,, 6936,barraquer_simons_syndrome,,,,,,,E88.1,75659004 6937,bartter_syndrome_antenatal_type_1,,,,,,,, 6938,bartter_syndrome_antenatal_type_2,,,,,,,, 6939,bartter_syndrome_type_3,,,,,,,E26.8, 6940,bartter_syndrome_type_4,,,,,,,, 6941,basal_cell_carcinoma_multiple,,,,,,,, 6942,basaloid_follicular_hamartoma,basaloid_follicular_hamartoma,,,,,,, 6943,basan_syndrome,,,,,,,, 6944,basaran_yilmaz_syndrome,,,,,,,, 6945,basedows_coma,,,,,,,, 6946,basilar_migraine,,,,,,,, 6947,bassoe_syndrome,,,,,,,, 6948,battaglia_neri_syndrome,,,,,,,, 6949,bazex_dupre_christol_syndrome,,,,,,C537663,L98.8,254820002 6950,bazopoulou_kyrkanidou_syndrome,,,,,,,Q87.0, 6951,bd_syndrome,,,,,,,, 6952,beardwell_syndrome,,,,,,,, 6953,becker_nevus_syndrome,,,,,,,D22.5, 6954,bednars_tumor,,,,,,,, 6955,beemer_ertbruggen_syndrome,,,,,,C537668,Q87.8, 6956,behr_syndrome,behr_syndrome,,,,,C537669,G98, 6957,ben_ari_shuper_mimouni_syndrome,,,,,,,, 6958,benallegue_lacete_syndrome,,,,,,,Q87.5, 6959,benign_angiitis_of_the_central_nervous_system,,,,,,,, 6960,benign_autosomal_dominant_myopathy,,,,,,,, 6961,benign_familial_neonatal_infantile_seizures,,,,,,,, 6962,benign_hyperphenylalaninemia,,,,,,,, 6963,benign_metastasizing_leiomyoma,,,,,,,, 6964,benign_multicystic_peritoneal_mesothelioma,,,,,,,, 6965,benign_recurrent_intrahepatic_cholestasis_1,,,,,,,, 6966,benign_recurrent_intrahepatic_cholestasis_2,,,,,,,K83.1, 6967,bent_bone_dysplasia_syndrome,,,,,,,, 6968,berger_disease,bergers_disease,,,,,,, 6969,berk_tabatznik_syndrome,,,,,,,, 6970,berry_aneurysm_cirrhosis_pulmonary_emphysema_and_cerebral_calcification,,,,,,,, 6971,best1_retinopathy,,,,,,,, 6972,beta_galactosidase_1_deficiency,,,,,,,, 6973,beta_sarcoglycanopathy,,,,,,,, 6974,beukes_familial_hip_dysplasia,,,,,,,Q65.8, 6975,bhaskar_jagannathan_syndrome,,,,,,,, 6976,bidirectional_tachycardia,,,,,,,, 6977,biemond_syndrome,biemond_syndrome,,,,,,Q87.8, 6978,biemond_syndrome_2,,,,,,,, 6979,biemond_syndrome_type_1,,,,,,,, 6980,biermer_disease,,,,,,,, 6981,bifid_nose,,,,,,C535441,Q30.2,204521002 6982,bifid_nose_with_or_without_anorectal_and_renal_anomalies,,,,,,,Q87.8, 6983,bilateral_frontal_polymicrogyria,,,,,,,Q04.3, 6984,bilateral_frontoparietal_polymicrogyria,bilateral_frontoparietal_polymicrogyria,,,,,,Q04.3, 6985,bilateral_generalized_polymicrogyria,,,,,,,Q04.3, 6986,bilateral_parasagittal_parieto_occipital_polymicrogyria,,,,,,,Q04.3, 6987,bilateral_perisylvian_polymicrogyria,,,,,,,Q04.3, 6988,bilateral_renal_agenesis_dominant_type,,,,,,,, 6989,bile_acid_synthesis_defect_congenital_1,,,,,,,, 6990,bile_acid_synthesis_defect_congenital_2,,,,,,C535443,K76.8, 6991,bile_acid_synthesis_defect_congenital_4,,,,,,C535444,K76.8, 6992,bile_duct_cysts,,,,,,,, 6993,biliary_atresia_extrahepatic,,,,,,,, 6994,biliary_atresia_intrahepatic_non_syndromic_form,,,,,,,, 6995,biliary_atresia_intrahepatic_syndromic_form,,,,,,,, 6996,biliary_hypoplasia,,,,,,,, 6997,biliary_tract_cancer,,,,,,,, 6998,bilirubin_induced_brain_injury_in_the_newborn,,,,,,,, 6999,billet_bear_syndrome,,,,,,,, 7000,binswangers_disease,,,,,F01.1,,I67.3, 7001,bird_headed_dwarfism_montreal_type,,,,,,C535448,Q87.1, 7002,bird_headed_dwarfism_with_progressive_ataxia_insulin_resistant_diabetes_goiter_and_primary_gonadal_insufficiency,,,,,,C537902,E31.8, 7003,birdshot_chorioretinopathy,birdshot_chorioretinopathy,,,,,C537630,H30.1, 7004,bixler_christian_gorlin_syndrome,,,,,,,Q87.0, 7005,bk_virus_nephropathy,,,,,,,, 7006,bladder_cancer_childhood,,,,,,,, 7007,blaichman_syndrome,,,,,,,Q87.8, 7008,blastic_plasmacytoid_dendritic_cell,,,,,,,, 7009,blepharo_naso_facial_syndrome_van_maldergem_type,,,,,,,, 7010,blepharofacioskeletal_syndrome,,,,,,,, 7011,blepharonasofacial_malformation_syndrome,blepharonasofacial_malformation_syndrome,,,,,,Q87.0, 7012,blepharophimosis_intellectual_disability_syndromes,,,,,,,, 7013,blepharophimosis_with_ptosis_syndactyly_and_short_stature,,,,,,,Q87.8, 7014,blepharophimosis_ptosis_and_epicanthus_inversus_syndrome_type_1,,,,,,,Q10.3, 7015,blepharophimosis_ptosis_and_epicanthus_inversus_syndrome_type_2,,,,,,,, 7016,blepharoptosis_myopia_ectopia_lentis,,,,,,C536236,Q15.8, 7017,blue_diaper_syndrome,blue_diaper_syndrome,,,,,C536239,E72.0,59531002 7018,blue_rubber_bleb_nevus_syndrome,blue_rubber_bleb_nevus_syndrome,,,,,C536240,Q27.8,254784002 7019,bobble_head_doll_syndrome,bobble-head_doll_syndrome,,,,,,, 7020,bod_syndrome,,,,,,C536242,Q87.1, 7021,boerhaave_syndrome,boerhaave_syndrome,,,,,,, 7022,bone_dysplasia_azouz_type,,,,,,,Q78.4, 7023,bone_dysplasia_corpus_callosum_agenesis,,,,,,,, 7024,bone_dysplasia_lethal_holmgren_type,,,,,,,, 7025,bone_dysplasia_moore_type,,,,,,,, 7026,bone_marrow_necrosis,,,,,,,, 7027,book_syndrome,,,,,,,Q82.4, 7028,bor_duane_hydrocephalus_contiguous_gene_syndrome,,,,,,,, 7029,bork_stender_schmidt_syndrome,,,,,,,, 7030,borrone_di_rocco_crovato_syndrome,,,,,,,, 7031,bothriocephalosis,bothriocephalosis,,,,,,, 7032,boucher_neuhauser_syndrome,,,,,,,, 7033,boudhina_yedes_khiari_syndrome,,,,,,,, 7034,bow_hunters_stroke,,,,,,,, 7035,bowen_syndrome,,,,,,,, 7036,bowenoid_papulosis,,,,,,,, 7037,bowing_of_legs_anterior_with_dwarfism,,,,,,C537082,Q77.8, 7038,bowing_of_long_bones_congenital,,,,,,,Q68.3|Q68.4|Q68.5|Q68.8, 7039,boylan_dew_greco_syndrome,,,,,,,, 7040,brachial_amelia_forebrain_defects_and_facial_clefts,,,,,,,, 7041,brachioskeletogenital_syndrome,,,,,,,, 7042,brachycephalofrontonasal_dysplasia,,,,,,,Q87.0, 7043,brachydactylous_dwarfism_mseleni_type,,,,,,C537086,Q77.7, 7044,brachydactyly_absence_of_distal_phalanges,,,,,,,, 7045,brachydactyly_anonychia,,,,,,,, 7046,brachydactyly_dwarfism_mental_retardation,,,,,,,, 7047,brachydactyly_elbow_wrist_dysplasia,,,,,,,Q73.8, 7048,brachydactyly_long_thumb_type,,,,,,,Q87.2, 7049,brachydactyly_mesomelia_mental_retardation_heart_defects,,,,,,,, 7050,brachydactyly_mononen_type,,,,,,C535914,, 7051,brachydactyly_preaxial_with_hallux_varus_and_thumb_abduction,,,,,,,, 7052,brachydactyly_small_stature_face_anomalies,,,,,,,, 7053,brachydactyly_tibial_hypoplasia,,,,,,,, 7054,brachydactyly_type_a1,,,,,,C537088,Q73.8, 7055,brachydactyly_type_a2,,,,,,C537089,Q73.8, 7056,brachydactyly_type_a3,,,,,,,, 7057,brachydactyly_type_a4,,,,,,,Q73.8, 7058,brachydactyly_type_a5,,,,,,,Q73.8, 7059,brachydactyly_type_a6,,,,,,C537092,Q73.8, 7060,brachydactyly_type_a7,,,,,,,Q73.8, 7061,brachydactyly_type_b,,,,,,,, 7062,brachydactyly_type_c,,,,,,C537093,Q73.8,389169005 7063,brachydactyly_type_e,,,,,,,Q73.8,63711009 7064,brachydactyly_types_b_and_e_combined,,,,,,,Q73.8, 7065,brachydactyly_with_hypertension,,,,,,,, 7066,brachymesomelia_renal_syndrome,,,,,,,, 7067,brachymetapody_anodontia_hypotrichosis_albinoidism,,,,,,,, 7068,brachyolmia_type_1_hobaek_type,,,,,,,Q76.3, 7069,brachyolmia_type_3,,,,,,,Q76.3, 7070,brachyphalangy_polydactyly_and_tibial_aplasia_hypoplasia,,,,,,,, 7071,braddock_jones_superneau_syndrome,,,,,,,, 7072,brain_tumor_childhood,,,,,,,, 7073,brainstem_auditory_evoked_responses,,,,,,,, 7074,branchial_arch_defects,,,,,,,, 7075,branchial_arch_syndrome_x_linked,,,,,,,, 7076,branchiootic_syndrome,,,,,,,, 7077,breast_cancer_childhood,,,,,,,, 7078,brenner_tumor_of_the_vagina,,,,,,,, 7079,brittle_bone_syndrome_lethal_type,,,,,,,, 7080,bronchial_adenomas_carcinoids_childhood,,,,,,,, 7081,bronchiectasis_oligospermia,,,,,,,, 7082,bronchogenic_cyst,bronchogenic_cyst,,,,,D001994,J98.4|Q33.0,9550003 7083,bronchopulmonary_dysplasia,bronchopulmonary_dysplasia,,,,,D001997,P27.1,67569000 7084,brooks_wisniewski_brown_syndrome,,,,,,,, 7085,brown_syndrome,,,,,,,, 7086,bruck_syndrome_1,,,,,,,, 7087,bruck_syndrome_2,,,,,,,M21.8,254113006 7088,brugada_syndrome_3,,,,,,D053840,I47.2,418818005 7089,brugada_syndrome_4,,,,,,,, 7090,brunoni_syndrome,,,,,,,, 7091,brunsting_perry_syndrome,,,,,,,, 7092,bruyn_scheltens_syndrome,,,,,,,, 7093,bullous_dystrophy_hereditary_macular_type,,,,,,,, 7094,burn_goodship_syndrome,,,,,,,, 7095,burn_mckeown_syndrome,,,,,,,Q87.8, 7096,burnett_schwartz_berberian_syndrome,,,,,,,, 7097,burning_mouth_syndrome_type_3,,,,,,,, 7098,buschke_lowenstein_tumor,,,,,,,, 7099,buschke_ollendorff_syndrome_2,,,,,,C537415,Q78.8, 7100,bustos_simosa_pinto_cisternas_syndrome,,,,,,,, 7101,c_like_syndrome,,,,,,,Q87.8, 7102,cafe_au_lait_spots_multiple,,,,,,,, 7103,cahmr_syndrome,,,,,,,, 7104,calabro_syndrome,,,,,,,, 7105,calcifying_epithelial_odontogenic_tumor,,,,,,,, 7106,calloso_genital_dysplasia,,,,,N91.0|N91.2,,, 7107,calvarial_hyperostosis,,,,,,,, 7108,camera_marugo_cohen_syndrome,,,,,,,, 7109,campomelia_cumming_type,,,,,,C537966,Q87.8, 7110,camptobrachydactyly,,,,,,C537967,Q74.8, 7111,camptocormism,,,,,,C537968,M43.8,13534001 7112,camptodactyly_arthropathy_coxa_vara_pericarditis_syndrome_2,camptodactyly-arthropathy-coxa_vara-pericarditis_syndrome,,,,,,, 7113,camptodactyly_joint_contractures_and_facial_skeletal_dysplasia,,,,,,,, 7114,camptodactyly_syndrome_guadalajara_type_1,,,,,,C537970,Q87.1, 7115,camptodactyly_syndrome_guadalajara_type_2,,,,,,C537971,Q87.1, 7116,camptodactyly_syndrome_guadalajara_type_3,,,,,,,, 7117,camptodactyly_taurinuria,,,,,,C537972,Q68.1, 7118,camptodactyly_vertebral_fusion,,,,,,,, 7119,camptodactyly_fibrous_tissue_hyperplasia_and_skeletal_dysplasia,,,,,,C537287|C537974,,70410008 7120,camptodactyly_tall_stature_and_hearing_loss_syndrome,,,,,,,Q87.2, 7121,camptodactyly_ichthyosis_syndrome,,,,,,,, 7122,camptomelic_syndrome_long_limb_type,,,,,,,, 7123,camurati_engelmann_disease_type_2,,,,,,,, 7124,candida_glabrata,candida_glabrata,,,,,,, 7125,candidiasis_familial_chronic_mucocutaneous_autosomal_recessive,,,,,,D002178,B37.2,234568006 7126,canomad_syndrome,,,,,,C537980,G61.8, 7127,cantalamessa_baldini_ambrosi_syndrome,,,,,,,, 7128,cantu_sanchez_corona_fragoso_syndrome,,,,,,,, 7129,cantu_sanchez_corona_garcia_cruz_syndrome,,,,,,,, 7130,cantu_sanchez_corona_hernandez_syndrome,,,,,,,, 7131,cantu_syndrome,,,,,,C535572,Q82.8|Q87.3,239087008 7132,carbon_baby_syndrome,,,,,,,, 7133,carcinoid_syndrome,carcinoid_syndrome,,,,E34.0,,, 7134,carcinoid_tumor_childhood,,,,,,,, 7135,carcinoma_of_the_vocal_tract,,,,,,,, 7136,carcinoma_of_unknown_primary_site_childhood,,,,,,,, 7137,cardiac_diverticulum,,,,,,,Q24.8, 7138,cardiac_hydatid_cysts_with_intracavitary_expansion,,,,,,,, 7139,cardiac_rupture,,,,,,,, 7140,cardiac_valvular_dysplasia_x_linked,,,,,,,Q24.8, 7141,cardioauditory_syndrome_of_sanchez_cascos,,,,,,,, 7142,cardiocranial_syndrome,,,,,,,Q87.8|Q87.0, 7143,cardioencephalomyopathy,,,,,,,, 7144,cardiofacial_syndrome_short_limbs,,,,,,,, 7145,cardiomelic_syndrome_stratton_koehler_type,,,,,,,, 7146,cardiomyopathy_and_deafness_due_to_trna_lysine_gene_mutation,,,,,,,, 7147,cardiomyopathy_cataract_hip_spine_disease,,,,,,,, 7148,cardiomyopathy_diabetes_deafness,,,,,,,, 7149,cardiomyopathy_dilated_with_conduction_defect_type_1,,,,,,,, 7150,cardiomyopathy_dilated_with_conduction_defect_type_2,,,,,,,, 7151,cardiomyopathy_dilated_with_woolly_hair_and_keratoderma,striate_palmoplantar_keratoderma_with_woolly_hair_and_left_ventricular_dilated_cardiomyopathy,,,,I42.0,,, 7152,cardiomyopathy_due_to_anthracyclines,,,,,,,, 7153,cardiomyopathy_hypogonadism_collagenoma_syndrome,,,,,,,, 7154,cardiomyopathy_hypogonadism_metabolic_anomalies,,,,,,,, 7155,cardiomyopathy_spherocytosis,,,,,,,, 7156,cardiomyopathy_fatal_fetal_due_to_myocardial_calcification,,,,,,,, 7157,cardioskeletal_syndrome_kuwaiti_type,,,,,,C535850,Q87.2, 7158,carnevale_hernandez_castillo_syndrome,,,,,,,, 7159,carnevale_syndrome,,,,,H02.4,,, 7160,carney_triad,,,,,,,D44.8, 7161,carnitine_palmitoyl_transferase_1_deficiency,,,,,,,, 7162,carnitine_palmitoyltransferase_i_deficiency_muscle,,,,,,,, 7163,carnitine_acylcarnitine_translocase_deficiency,carnitine-acylcarnitine_translocase_deficiency,,,,,,E71.3,238003000 7164,carnosinemia,carnosinemia,,,,,,E70.8,410052008 7165,carotid_body_tumor,carotid_body_tumor,,,,,,, 7166,carotidynia,carotidynia,,,,,,, 7167,carpal_deformity_migrognathia_microstomia,,,,,,,, 7168,carpenter_syndrome,carpenter_syndrome,,,,,,Q87.0,205813009|403767009 7169,carpo_tarsal_osteolysis_recessive,,,,,M89.5,,, 7170,carpotarsal_osteochondromatosis,,,,,,,Q74.8,389272007 7171,carrington_syndrome,,,,,,,J82, 7172,cartilaginous_cancer,,,,,,,, 7173,cartwright_nelson_fryns_syndrome,,,,,,,, 7174,caspase_8_deficiency,,,,,,,, 7175,cassavism,,,,,,,, 7176,castlemans_disease,,,,,,C536362|D005871,D36.0,207036003|238809002 7177,cat_eye_syndrome,cat_eye_syndrome,,,,,C535918,Q92.8|Q87.8,26445008 7178,catamenial_pneumothorax,,,,,,,, 7179,cataract_and_cardiomyopathy,,,,,,,, 7180,cataract_and_congenital_ichthyosis,,,,,,C538281,, 7181,cataract_anterior_polar_dominant,,,,,,C538282,Q12.0, 7182,cataract_ataxia_deafness,,,,,,C538283,, 7183,cataract_congenital_autosomal_dominant,,,,,,,, 7184,cataract_congenital_dominant_non_nuclear,,,,,,,, 7185,cataract_congenital_volkmann_type,,,,,,C538285,Q12.0, 7186,cataract_hutterite_type,,,,,,C538286,Q12.0, 7187,cataract_mental_retardation_hypogonadism,,,,,,,, 7188,cataract_microcornea_syndrome,,,,,,,, 7189,cataract_microphthalmia_septal_defect,,,,,,,, 7190,cataract_skeletal_anomalies,,,,,,,, 7191,cataract_alopecia_sclerodactyly,,,,,,,, 7192,cataract_autosomal_recessive_congenital_2,,,,,,,, 7193,cataract_congenital_with_microcornea_or_slight_microphthalmia,,,,,,C535341,Q12.0,29590001 7194,cataract_microphthalmia_and_nystagmus,,,,,,,, 7195,cataract_posterior_polar_1,,,,,,,, 7196,cataract_posterior_polar_3,,,,,,,Q12.0, 7197,cataract_posterior_polar_4,,,,,,,, 7198,cataract_posterior_polar_5,,,,,,,, 7199,cataract_total_congenital,,,,,,,, 7200,cataract_zonular,,,,,,,, 7201,cataract_glaucoma,,,,,,,Q12.0, 7202,cataract_microcephaly_failure_to_thrive_kyphoscoliosis,,,,,,,, 7203,cataracts_ataxia_short_stature_and_mental_retardation,,,,,,,, 7204,catastrophic_antiphospholipid_syndrome,,,,,,,, 7205,catatrichy,,,,,,,, 7206,catel_manzke_syndrome,,,,,,C535347,Q87.8, 7207,caudal_appendage_deafness,,,,,,,, 7208,caudal_duplication,,,,,,,Q87.8, 7209,caudal_regression_syndrome,caudal_regression_syndrome,,,,,C538595,Q87.2|Q76.0|Q87.8,253191000|67254002|91089008 7210,cavernous_lymphangioma,,,,,,,, 7211,ccge_syndrome,,,,,,,, 7212,cd4_deficiency,,,,,,,, 7213,cdk4_linked_melanoma,,,,,,,, 7214,cennamo_gangemi_syndrome,,,,,,,, 7215,central_centrifugal_cicatricial_alopecia,,,,,L66.0,,, 7216,central_nervous_system_lymphoma_primary,,,,,,,, 7217,central_post_stroke_pain,central_post-stroke_pain,,,,,,, 7218,central_serous_chorioretinopathy,central_serous_chorioretinopathy,,,,,,, 7219,cerebellar_agenesis,,,,,,,, 7220,cerebellar_astrocytoma_childhood,,,,,,,, 7221,cerebellar_ataxia_and_hypogonadotropic_hypogonadism,,,,,,,G11.8, 7222,cerebellar_ataxia_ectodermal_dysplasia,,,,,,C535350,G11.1|Q82.4, 7223,cerebellar_ataxia_infantile_with_progressive_external_ophthalmoplegia,,,,,,,, 7224,cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_and_sensorinural_hearing_loss,,,,,,,, 7225,cerebellar_degeneration,,,,,,,, 7226,cerebellar_degeneration_subacute,,,,,,,, 7227,cerebellar_hypoplasia,cerebellar_hypoplasia,,,,,,, 7228,cerebellar_hypoplasia_tapetoretinal_degeneration,,,,,,,Q04.3, 7229,cerebellar_hypoplasia_with_endosteal_sclerosis,,,,,,C535353,Q87.8, 7230,cerebello_olivary_atrophy,,,,,,,, 7231,cerebelloparenchymal_disorder_3,,,,,,,G11.0, 7232,cerebellum_agenesis_hydrocephaly,,,,,,,Q04.3, 7233,cerebral_autosomal_recessive_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy,,,,,,,, 7234,cerebral_calcification_cerebellar_hypoplasia,,,,,,,, 7235,cerebral_calcifications_opalescent_teeth_phosphaturia,,,,,,,, 7236,cerebral_cavernous_malformation,,,,,,,, 7237,cerebral_dysgenesis_neuropathy_ichthyosis_and_palmoplantar_keratoderma_syndrome,,,,,,,Q82.8, 7238,cerebral_folate_deficiency,,,,,,,G31.8, 7239,cerebral_gigantism_jaw_cysts,,,,,,,Q04.5, 7240,cerebral_palsy_athetoid,,,,,G80.3,,, 7241,cerebral_palsy_spastic_diplegic,,,,,G80.1,,, 7242,cerebral_sarcoma,,,,,,,, 7243,cerebral_sclerosis_similar_to_pelizaeus_merzbacher_disease,,,,,,,, 7244,cerebro_facio_thoracic_dysplasia,,,,,,,Q87.5, 7245,cerebro_costo_mandibular_syndrome,,,,,,,Q87.8,51780007 7246,cerebro_oculo_facio_skeletal_syndrome_cofs,cerebro-oculo-facio-skeletal_syndrome,,,,,,, 7247,cerebrocostomandibular_like_syndrome,,,,,,,, 7248,cerebrospinal_fluid_leak,cerebrospinal_fluid_leak,,,,G96.0,,, 7249,ceroid_lipofuscinosis_neuronal_1,,,,,,,, 7250,ceroid_lipofuscinosis_neuronal_10,,,,,E75.4,,E75.4,14637005 7251,ceroid_lipofuscinosis_neuronal_2,,,,,,,, 7252,ceroid_lipofuscinosis_neuronal_5,,,,,,,, 7253,ceroid_lipofuscinosis_neuronal_6,,,,,,,, 7254,ceroid_lipofuscinosis_neuronal_7,,,,,,,E75.4, 7255,ceroid_lipofuscinosis_neuronal_8,,,,,,,E75.4,61663001 7256,ceroid_lipofuscinosis_neuronal_9,,,,,,,E75.4, 7257,ceroid_storage_disease,,,,,,,, 7258,cerulean_cataract,,,,,,,, 7259,cervical_dystonia,cervical_dystonia,,,,G24.3,,G24.3,230322000 7260,cervical_hypertrichosis_peripheral_neuropathy,,,,,,,, 7261,cervical_intraepithelial_neoplasia,cervical_intraepithelial_neoplasia,,,,,,, 7262,cervical_ribs_sprengel_anomaly_anal_atresia_and_urethral_obstruction,,,,,,,, 7263,chand_syndrome,,,,,,,Q82.4, 7264,chang_davidson_carlson_syndrome,,,,,,,, 7265,chaotic_atrial_tachycardia,,,,,,,I47.1, 7266,charcot_marie_tooth_disease_deafness_recessive_type,,,,,,,, 7267,charcot_marie_tooth_disease_dominant_intermediate_1,,,,,,,, 7268,charcot_marie_tooth_disease_dominant_intermediate_2,,,,,,,, 7269,charcot_marie_tooth_disease_dominant_intermediate_3,,,,,,,G60.0, 7270,charcot_marie_tooth_disease_neuronal_type_a,,,,,,,, 7271,charcot_marie_tooth_disease_neuronal_type_b,,,,,,,, 7272,charcot_marie_tooth_disease_neuronal_type_d,,,,,,,, 7273,charcot_marie_tooth_disease_type_1a,,,,,,,G60.0,40632002 7274,charcot_marie_tooth_disease_type_1b,,,,,,,G60.0,42986003 7275,charcot_marie_tooth_disease_type_1c,,,,,,C537984,G60.0,4183003 7276,charcot_marie_tooth_disease_type_1d,,,,,,C537985,G60.0, 7277,charcot_marie_tooth_disease_type_1e,,,,,,C537986|C538078,G60.0, 7278,charcot_marie_tooth_disease_type_1f,,,,,,,G60.0, 7279,charcot_marie_tooth_disease_type_2a,,,,,,,, 7280,charcot_marie_tooth_disease_type_2b,,,,,,,G60.0, 7281,charcot_marie_tooth_disease_type_2b1,,,,,,C537990,G60.0, 7282,charcot_marie_tooth_disease_type_2b2,,,,,,C537991,G60.0, 7283,charcot_marie_tooth_disease_type_2c,,,,,,,G60.0, 7284,charcot_marie_tooth_disease_type_2d,,,,,,,G60.0, 7285,charcot_marie_tooth_disease_type_2e,,,,,,,G60.0, 7286,charcot_marie_tooth_disease_type_2f,,,,,,,G60.0, 7287,charcot_marie_tooth_disease_type_2g,,,,,,,, 7288,charcot_marie_tooth_disease_type_2h,,,,,,C535415,G60.0, 7289,charcot_marie_tooth_disease_type_2i,,,,,,,G60.0, 7290,charcot_marie_tooth_disease_type_2j,,,,,,,G60.0, 7291,charcot_marie_tooth_disease_type_2k,,,,,,,G60.0, 7292,charcot_marie_tooth_disease_type_4b1,,,,,,C535420,G60.0, 7293,charcot_marie_tooth_disease_type_4b2,,,,,,C535421,G60.0, 7294,charcot_marie_tooth_disease_type_4b2_with_early_onset_glaucoma,,,,,,,, 7295,charcot_marie_tooth_disease_type_4e,,,,,,,G60.0, 7296,charcot_marie_tooth_disease_with_ptosis_and_parkinsonism,,,,,,,, 7297,charcot_marie_tooth_disease_with_pyramidal_features_autosomal_dominant,,,,,,,G60.0, 7298,charcot_marie_tooth_disease_x_linked_1,,,,,,,, 7299,charcot_marie_tooth_disease_x_linked_recessive_2,,,,,,,, 7300,charcot_marie_tooth_disease_x_linked_recessive_3,,,,,,,, 7301,charcot_marie_tooth_type_1_aplasia_cutis_congenita,,,,,,,, 7302,charles_bonnet_syndrome,charles_bonnet_syndrome,,,,,,, 7303,charlie_m_syndrome,,,,,,,Q87.0, 7304,cheilitis_glandularis,,,,,,C535921,K13.0,26374003 7305,chester_porphyria,,,,,,,, 7306,chiari_malformation_type_1,,,,,,,G95.0, 7307,chiari_malformation_type_2,chiari_2_malformation,,,,,,Q07.0, 7308,chiari_malformation_type_3,chiari_3_malformation,,,,,,, 7309,chiari_malformation_type_4,,,,,,,, 7310,chiari_malformations,chiari_malformations,,,,,,, 7311,chilaiditi_syndrome,,,,,,,, 7312,child_syndrome,,,,,,,, 7313,childhood_onset_cerebral_x_linked_adrenoleukodystrophy,,,,,,,, 7314,childhood_onset_schizophrenia,childhood_onset_schizophrenia,,,,,,, 7315,childrens_interstitial_lung_disease,,,,,,,Q87.8,17608003 7316,chitayat_meunier_hodgkinson_syndrome,,,,,,,Q87.8, 7317,chitty_hall_webb_syndrome,,,,,,,, 7318,cholestasis_progressive_familial_intrahepatic_1,progressive_familial_intrahepatic_cholestasis,,,,,C535933,K83.1,74162007 7319,cholestasis_progressive_familial_intrahepatic_2,,,,,,C535934,K83.1, 7320,cholestasis_progressive_familial_intrahepatic_3,,,,,,C535935,K83.1, 7321,cholestasis_progressive_familial_intrahepatic_4,,,,,,C535442,K76.8|K90.8, 7322,cholesterol_pneumonia,cholesterol_pneumonia,,,,,,, 7323,chondrocalcinosis_1,,,,,,,, 7324,chondrocalcinosis_2,,,,,,,M11.1, 7325,chondrocalcinosis_due_to_apatite_crystal_deposition,,,,,,,, 7326,chondrodysplasia,chondrodysplasia,,,,,,, 7327,chondrodysplasia_acromesomelic_with_genital_anomalies,,,,,,,, 7328,chondrodysplasia_blomstrand_type,,,,,,C537914,Q78.8, 7329,chondrodysplasia_calcificans_metaphysealis,,,,,,,, 7330,chondrodysplasia_lethal_recessive,,,,,,,Q78.8, 7331,chondrodysplasia_punctata_1_x_linked_recessive,,,,,,,, 7332,chondrodysplasia_punctata_2_x_linked_dominant,,,,,,,Q77.3,398719004|398958000|66924005 7333,chondrodysplasia_punctata_sheffield_type,,,,,,,Q77.3, 7334,chondrodysplasia_punctata_syndrome,chondrodysplasia_punctata,,,,Q77.3,,, 7335,chondrodysplasia_punctata_with_steroid_sulfatase_deficiency,,,,,,,, 7336,chondrodysplasia_punctata_humero_metacarpal_type,,,,,,,, 7337,chondrodysplasia_situs_inversus_imperforate_anus_polydactyly,impossible_syndrome,,,,,,, 7338,chondrodysplasia_with_joint_dislocations_gpapp_type,,,,,,,, 7339,chorea_familial_benign,,,,,,,, 7340,chorea_minor,,,,,I02|I02.0|I02.9,,, 7341,chorea_remitting_with_nystagmus_and_cataracts,,,,,,,, 7342,choreoacanthocytosis_amyotrophic,,,,,,,, 7343,chorioretinopathy_dominant_form_microcephaly,,,,,,,, 7344,choroid_plexus_calcification_with_mental_retardation,,,,,,,, 7345,choroid_plexus_cyst,choroid_plexus_cyst,,,,,,, 7346,choroideremia_hypopituitarism,,,,,,,, 7347,christian_demyer_franken_syndrome,,,,,,,, 7348,christian_johnson_angenieta_syndrome,,,,,,,, 7349,christianson_syndrome,,,,,,C537450,, 7350,chromhidrosis,chromhidrosis,,,,L75.1,,, 7351,chromophil_renal_cell_carcinoma,,,,,,,, 7352,chromophobe_renal_cell_carcinoma,,,,,,,C64, 7353,chromosomal_triplication,,,,,,,, 7354,chromosome_1_uniparental_disomy_1q12_q21,,,,,,,, 7355,chromosome_10_uniparental_disomy,,,,,,,Q92.1, 7356,chromosome_10p_deletion,,,,,,,, 7357,chromosome_10p_duplication,,,,,,,Q92.2, 7358,chromosome_10q_deletion,,,,,,,, 7359,chromosome_10q_duplication,,,,,,,, 7360,chromosome_11p_deletion,,,,,,,, 7361,chromosome_11p_duplication,,,,,,,, 7362,chromosome_11q_deletion,,,,,,,, 7363,chromosome_11q_duplication,,,,,,,, 7364,chromosome_12p_deletion,,,,,,,, 7365,chromosome_12p_duplication,,,,,,,Q92.3, 7366,chromosome_12q_deletion,,,,,,,, 7367,chromosome_12q_duplication,,,,,,,, 7368,chromosome_13q_deletion,,,,,,,, 7369,chromosome_13q_duplication,,,,,,,, 7370,chromosome_14q_deletion,,,,,,,, 7371,chromosome_14q_duplication,,,,,,,, 7372,chromosome_15_trisomy_mosaicism,,,,,,,, 7373,chromosome_15q_deletion,,,,,,,, 7374,chromosome_15q_duplication,,,,,,,, 7375,chromosome_15q252_deletion,,,,,,,, 7376,chromosome_16_trisomy,,,,,,,Q92.1, 7377,chromosome_16_uniparental_disomy,,,,,,,, 7378,chromosome_16p_deletion,,,,,,,, 7379,chromosome_16p_duplication,,,,,,,, 7380,chromosome_16p133_deletion_syndrome,,,,,,,, 7381,chromosome_16p133_duplication,,,,,,,, 7382,chromosome_16q_deletion,,,,,,,, 7383,chromosome_16q_duplication,,,,,,,, 7384,chromosome_17p_deletion,,,,,,,, 7385,chromosome_17p_duplication,,,,,,,Q92.2, 7386,chromosome_17p131_deletion_syndrome,,,,,,,Q93.5, 7387,chromosome_17q_deletion,,,,,,,, 7388,chromosome_17q_duplication,,,,,,,, 7389,chromosome_18p_deletion_syndrome,,,,,,,, 7390,chromosome_18p_duplication,,,,,,C538307,Q92.2, 7391,chromosome_18p_tetrasomy,,,,,,,Q99.8, 7392,chromosome_18q_duplication,,,,,,,, 7393,chromosome_19p_deletion,,,,,,,, 7394,chromosome_19p_duplication,,,,,,,, 7395,chromosome_19q_deletion,,,,,,,, 7396,chromosome_19q_duplication,,,,,,,, 7397,chromosome_19q1311_deletion_syndrome,,,,,,,, 7398,chromosome_1p_deletion,,,,,,,, 7399,chromosome_1p_duplication,,,,,,,, 7400,chromosome_1p36_deletion_syndrome,,,,,,,, 7401,chromosome_1q_deletion,,,,,,,, 7402,chromosome_1q_duplication,,,,,,,Q92.2, 7403,chromosome_1q211_duplication_syndrome,,,,,,,Q92.3, 7404,chromosome_1q41_q42_deletion_syndrome,,,,,,,Q93.5, 7405,chromosome_20_trisomy,,,,,,,Q92.1, 7406,chromosome_20p_deletion,,,,,,C535370,Q93.5, 7407,chromosome_20p_duplication,,,,,,,Q92.2, 7408,chromosome_20q_deletion,,,,,,,, 7409,chromosome_20q_duplication,,,,,,,, 7410,chromosome_21_uniparental_disomy,,,,,,,, 7411,chromosome_21q_deletion,,,,,,,, 7412,chromosome_21q_duplication,,,,,,,, 7413,chromosome_22q_deletion,,,,,,,, 7414,chromosome_22q_duplication,,,,,,,, 7415,chromosome_2p_deletion,,,,,,,, 7416,chromosome_2p_duplication,,,,,,,, 7417,chromosome_2q_deletion,,,,,,,, 7418,chromosome_2q_duplication,,,,,,,, 7419,chromosome_2q24_microdeletion_syndrome,,,,,,C538316,Q93.5, 7420,chromosome_3_trisomy_3q,,,,,,,, 7421,chromosome_3p_deletion,,,,,,,, 7422,chromosome_3p_duplication,,,,,,,, 7423,chromosome_3q_deletion,,,,,,,, 7424,chromosome_3q29_microduplication_syndrome,,,,,,,Q92.3, 7425,chromosome_4p_deletion,,,,,,,, 7426,chromosome_4p_duplication,,,,,,C537643,Q92.2, 7427,chromosome_4q_deletion,,,,,,,Q93.5, 7428,chromosome_4q_duplication,,,,,,,Q92.5, 7429,chromosome_5_uniparental_disomy,,,,,,,, 7430,chromosome_5p_duplication,,,,,,,Q92.3, 7431,chromosome_5q_deletion,,,,,,,, 7432,chromosome_5q_duplication,,,,,,,, 7433,chromosome_6p_deletion,,,,,,,, 7434,chromosome_6p_duplication,,,,,,,, 7435,chromosome_6q_deletion,,,,,,,, 7436,chromosome_6q_duplication,,,,,,,, 7437,chromosome_6q25_microdeletion_syndrome,,,,,,,, 7438,chromosome_7p_deletion,,,,,,,, 7439,chromosome_7p_duplication,,,,,,,, 7440,chromosome_7q_deletion,,,,,,,, 7441,chromosome_7q_duplication,,,,,,,, 7442,chromosome_8p_deletion,,,,,,,, 7443,chromosome_8p_duplication,,,,,,,Q92.2, 7444,chromosome_8p231_deletion,,,,,,,Q93.5, 7445,chromosome_8q_deletion,,,,,,,, 7446,chromosome_8q_duplication,,,,,,,Q92.2, 7447,chromosome_9_inversion,,,,,,,, 7448,chromosome_9p_deletion,monosomy_9p,,,,,,Q93.5, 7449,chromosome_9p_duplication,,,,,,,Q92.2, 7450,chromosome_9q_deletion,,,,,,,, 7451,chromosome_9q_duplication,,,,,,,, 7452,chromosome_xp_deletion,,,,,,,, 7453,chromosome_xp22_deletion_syndrome,,,,,,,, 7454,chromosome_xq_deletion,,,,,,,, 7455,chromosome_xq_duplication,,,,,,,, 7456,chromosome_xq28_deletion_syndrome,,,,,,,, 7457,chronic_active_epstein_barr_virus_infection,,,,,,,, 7458,chronic_atypical_neutrophilic_dermatosis_with_lipodystrophy_and_elevated_temperature,,,,,,,, 7459,chronic_berylliosis,,,,,,D001607,J63.2,18121009 7460,chronic_demyelinizing_neuropathy_with_igm_monoclonal,,,,,,,, 7461,chronic_erosive_gastritis,,,,,,,, 7462,chronic_graft_versus_host_disease,,,,,,D006086,T86.0,402356004 7463,chronic_hiccups,,,,,,,, 7464,chronic_infantile_neurological_cutaneous_articular_syndrome,,,,,,,G03.1|G44.8|L50.8|M08.9, 7465,chronic_inflammatory_demyelinating_polyneuropathy,chronic_inflammatory_demyelinating_polyneuropathy,,,,,,G61.8, 7466,chronic_lymphocytic_inflammation_with_pontine_perivascular_enhancement_responsive_to_steroids,,,,,,,, 7467,chronic_myelomonocytic_leukemia,chronic_myelomonocytic_leukemia,,,,C93.1,D015477,C93.1,127225006|128831004 7468,chronic_neutrophilic_leukemia,,,,,,D015467,C92.1,128834007|188734009 7469,chronic_polyradiculoneuritis,chronic_polyradiculoneuritis,,,,,,, 7470,chronic_recurrent_multifocal_osteomyelitis,chronic_recurrent_multifocal_osteomyelitis,,,,M86.3,,M86.3, 7471,chudley_rozdilsky_syndrome,,,,,,,, 7472,chudley_mccullough_syndrome,,,,,,,, 7473,chylomicron_retention_disease,chylomicron_retention_disease,,,,,C535460,E78.6, 7474,chylothorax_congenital,,,,,,,, 7475,chylous_ascites,,,,,,D002915,I89.8,52985009 7476,ciguatera_fish_poisoning,,,,,,,, 7477,ciliary_discoordination_due_to_random_ciliary_orientation,,,,,,,, 7478,ciliary_dyskinesia_with_excessively_long_cilia,,,,,,,, 7479,ciliary_dyskinesia_due_to_transposition_of_ciliary_microtubules,,,,,,,, 7480,ciliary_dyskinesia_bronchiectasis,,,,,,,, 7481,circumscribed_cutaneous_aplasia_of_the_vertex,,,,,,,Q84.8, 7482,circumscribed_disseminated_keratosis_jadassohn_lew_type,,,,,,,, 7483,citrulline_transport_defect,,,,,,,, 7484,clark_baraitser_syndrome,,,,,,,, 7485,clasped_thumbs_congenital,congenital_clasped_thumbs,,,,,,, 7486,classic_kaposi_sarcoma,classic_kaposi_sarcoma,,,,,,, 7487,clear_cell_renal_cell_carcinoma,,,,,,,, 7488,cleft_hand_absent_tibia,,,,,,,, 7489,cleft_lip_and_palate_malrotation_cardiopathy,,,,,,,, 7490,cleft_lip_and_or_palate_with_mucous_cysts_of_lower,,,,,,,, 7491,cleft_lip_palate_dysmorphism_kumar_type,,,,,,,, 7492,cleft_lip_palate_mental_retardation_corneal_opacity,,,,,,,, 7493,cleft_lip_palate_oligodontia_syndactyly_pili_torti,,,,,,,, 7494,cleft_lip_palate_pituitary_deficiency,,,,,,,, 7495,cleft_lip_palate_tetraphocomelia,,,,,,,, 7496,cleft_lower_lip_cleft_lateral_canthi_chorioretinal,,,,,,,, 7497,cleft_palate_cardiac_defect_ectrodactyly,,,,,I46.9|I49.9|R01.1,,, 7498,cleft_palate_colobomata_radial_synostosis_deafness,,,,,,,, 7499,cleft_palate_heart_disease_polydactyly_absent_tibia,,,,,,,, 7500,cleft_palate_lateral_synechia_syndrome,,,,,,,, 7501,cleft_palate_short_stature_vertebral_anomalies,,,,,,,Q87.0, 7502,cleft_palate_stapes_fixation_oligodontia,,,,,,,, 7503,cleft_palate_x_linked,,,,,,,Q38.1|Q35, 7504,cleft_palate_midfacial_hypoplasia_triangular_facies_and_sensorineural_hearing_loss,,,,,,,, 7505,cleft_tongue_syndrome,,,,,,,, 7506,cleft_upper_lip_median_cutaneous_polyps,,,,,,,, 7507,cleidocranial_dysplasia_recessive_form,,,,,,,, 7508,cleidorhizomelic_syndrome,,,,,,,, 7509,cloacal_exstrophy,cloacal_exstrophy,,,,,,Q64.1, 7510,clostridium_difficile,clostridium_difficile,,,,,,, 7511,clostridium_sordellii,clostridium_sordellii,,,,,,, 7512,cloves_syndrome,,,,,,,Q87.3, 7513,cluster_headache,cluster_headache,,,,G44.0,,, 7514,cluttering,cluttering,,,,F98.6,,, 7515,cmv_antenatal_infection,,,,,,,, 7516,coach_syndrome,,,,,,,K74.0|Q04.3, 7517,coarse_face_hypotonia_constipation,,,,,,,, 7518,cobb_syndrome,cobb_syndrome,,,,,,Q27.3,254774003 7519,cocaine_antenatal_infection,,,,,,,, 7520,coccygodynia,coccygodynia,,,,,,, 7521,cochleosaccular_degeneration_of_the_inner_ear_and_progressive_cataracts,,,,,,,, 7522,cockayne_syndrome_type_i,,,,,,,, 7523,cockayne_syndrome_type_ii,,,,,,D003057,Q87.1|Q87.8,21086008 7524,cockayne_syndrome_type_iii,,,,,,,, 7525,codas_syndrome,,,,,,C536434,Q87.8, 7526,coenzyme_q_cytochrome_c_reductase_deficiency_of,,,,,,,, 7527,coffin_syndrome_1,,,,,,,, 7528,cogans_syndrome,cogan_syndrome,,,,,D055952,H16.3,405810005 7529,cogan_reese_syndrome,,,,,,,H21.1,404633004 7530,cohen_hayden_syndrome,,,,,,,, 7531,cohen_lockood_wyborney_syndrome,,,,,,,, 7532,cold_agglutinin_disease,cold_agglutinin_disease,,,,,,D59.1, 7533,cold_contact_urticaria,,,,,L50|L50.2|L50.9,,, 7534,cole_carpenter_syndrome,cole_carpenter_syndrome,,,,,C535963,Q78.0, 7535,collagenopathy_type_2_alpha_1,,,,,,,, 7536,collagenous_colitis,collagenous_colitis,,,,,D046729,K52.8,19311003 7537,collagenous_gastritis,,,,,,,, 7538,collins_pope_syndrome,,,,,,,Q87.2, 7539,collins_sakati_syndrome,,,,,,,, 7540,colloid_cysts_of_third_ventricle,,,,,,,, 7541,coloboma_chorioretinal_cerebellar_vermis_aplasia,,,,,,,, 7542,coloboma_of_alar_nasal_cartilages_with_telecanthus,,,,,,,, 7543,coloboma_of_eye_lens,,,,,,,Q12.2,204134008 7544,coloboma_of_iris,,,,,Q13.0,,Q13.0,9446007 7545,coloboma_of_macula,,,,,,,Q14.8, 7546,coloboma_of_macula_with_type_b_brachydactyly,,,,,,C535969,Q87.1, 7547,coloboma_of_optic_papilla,,,,,,,Q14.2, 7548,coloboma_porencephaly_hydronephrosis,,,,,,,, 7549,coloboma_cleft_lip_palate_and_mental_retardation_syndrome,,,,,,,, 7550,colobomata_unilobar_lung_heart_defect,,,,,,,, 7551,colobomatous_microphthalmia_heart_disease_hearing,,,,,,,, 7552,colonic_atresia,colonic_atresia,,,,,,Q42.9, 7553,colonic_malakoplakia,,,,,,,, 7554,colorectal_cancer_childhood,,,,,,,, 7555,colpocephaly,colpocephaly,,,,,,, 7556,colver_steer_godman_syndrome,,,,,,,, 7557,combarros_calleja_leno_syndrome,,,,,,,, 7558,combined_malonic_and_methylmalonic_aciduria,,,,,,,, 7559,complement_component_2_deficiency,complement_component_2,,,,,,, 7560,complement_component_8_deficiency_type_1,,,,,,,, 7561,complement_component_8_deficiency_type_2,,,,,,,, 7562,complement_component_deficiency,,,,,,,, 7563,complement_component_receptor_1,,,,,,,, 7564,complement_receptor_deficiency,complement_receptor,,,,,,, 7565,complete_androgen_insensitivity_syndrome,,,,,,,, 7566,complete_atrioventricular_canal,complete_atrioventricular_canal,,,,,,, 7567,condensing_osteitis_of_the_clavicle,,,,,M85.3,,Q74.0, 7568,conductive_deafness_with_malformed_external_ear,,,,,H90.0|H90.1,,, 7569,cone_dystrophy_x_linked_with_tapetal_like_sheen,,,,,,,, 7570,cone_rod_dystrophy_1,,,,,,,, 7571,cone_rod_dystrophy_2,,,,,,,, 7572,cone_rod_dystrophy_3,,,,,,,, 7573,cone_rod_dystrophy_5,,,,,,,H35.5, 7574,cone_rod_dystrophy_6,,,,,,,, 7575,cone_rod_dystrophy_amelogenesis_imperfecta,,,,,,,H35.5, 7576,cone_rod_dystrophy_x_linked_1,,,,,,,, 7577,cone_rod_dystrophy_x_linked_2,,,,,,,, 7578,cone_rod_dystrophy_x_linked_3,,,,,,,, 7579,congenital_absence_of_the_sternocleidomastoid_muscle,,,,,,,, 7580,congenital_alopecia_x_linked,,,,,Q84.0,,, 7581,congenital_amegakaryocytic_thrombocytopenia,congenital_amegakaryocytic_thrombocytopenia,,,,,C535982,D61.0,234482009 7582,congenital_amputation,congenital_amputation,,,,,,, 7583,congenital_aneurysms_of_the_great_vessels,,,,,,,, 7584,congenital_anosmia,,,,,,,, 7585,congenital_antithrombin_deficiency,,,,,,,, 7586,congenital_antithrombin_deficiency_type_2,,,,,,,, 7587,congenital_antithrombin_deficiency_type_3,,,,,,,, 7588,congenital_arteriovenous_shunt,,,,,,,, 7589,congenital_articular_rigidity,,,,,,,, 7590,congenital_benign_spinal_muscular_atrophy_dominant,,,,,,,, 7591,congenital_bronchobiliary_fistula,,,,,,,Q32.4, 7592,congenital_cardiovascular_shunt,,,,,,,, 7593,congenital_chloride_diarrhea,congenital_chloride_diarrhea,,,,,,, 7594,congenital_contractures,,,,,,,, 7595,congenital_craniosynostosis_maternal_hyperthyroiditis,,,,,,,, 7596,congenital_cystic_eye,congenital_cystic_eye,,,,,,, 7597,congenital_cystic_eye_multiple_ocular_and_intracranial_anomalies,,,,,,,, 7598,congenital_cytomegalovirus,,,,,,,, 7599,congenital_dislocation_of_the_patella,,,,,,,Q74.1, 7600,congenital_disorder_of_glycosylation_type_1a,,,,,,,, 7601,congenital_disorder_of_glycosylation_type_1b,,,,,,,, 7602,congenital_disorder_of_glycosylation_type_1c,,,,,,,, 7603,congenital_disorder_of_glycosylation_type_1d,,,,,,,, 7604,congenital_disorder_of_glycosylation_type_1e,,,,,,,, 7605,congenital_disorder_of_glycosylation_type_1f,,,,,,,, 7606,congenital_disorder_of_glycosylation_type_1g,,,,,,,, 7607,congenital_disorder_of_glycosylation_type_1h,,,,,,,, 7608,congenital_disorder_of_glycosylation_type_1i,,,,,,,, 7609,congenital_disorder_of_glycosylation_type_1j,,,,,,,, 7610,congenital_disorder_of_glycosylation_type_1k,,,,,,,, 7611,congenital_disorder_of_glycosylation_type_1l,,,,,,,, 7612,congenital_disorder_of_glycosylation_type_2a,,,,,,,, 7613,congenital_disorder_of_glycosylation_type_2b,,,,,,,E77.8, 7614,congenital_disorder_of_glycosylation_type_2c,,,,,,,D84.8,234583001 7615,congenital_disorder_of_glycosylation_type_2d,,,,,,,, 7616,congenital_disorder_of_glycosylation_type_2e,,,,,,,, 7617,congenital_disorder_of_glycosylation_type_2g,,,,,,,, 7618,congenital_disorder_of_glycosylation_type_i_iix,,,,,,,, 7619,congenital_disorder_of_glycosylation_type_iil,,,,,,,, 7620,congenital_dyserythropoietic_anemia_type_2,,,,,,,D64.4,68870007 7621,congenital_dyserythropoietic_anemia_type_3,,,,,,,D64.4,26409005 7622,congenital_ectodermal_dysplasia_with_hearing_loss,,,,,,,, 7623,congenital_extrahepatic_portosystemic_shunt,,,,,,,, 7624,congenital_generalized_fibromatosis,congenital_generalized_fibromatosis,,,,,,, 7625,congenital_generalized_lipodystrophy_type_1,,,,,,,, 7626,congenital_generalized_lipodystrophy_type_2,congenital_generalized_lipodystrophy,,,,,,E88.1, 7627,congenital_generalized_lipodystrophy_type_4,,,,,,,E88.1|G71.0, 7628,congenital_giant_megaureter,,,,,,,, 7629,congenital_heart_disease_ptosis_hypodontia_craniostosis,,,,,,,, 7630,congenital_heart_disease_radio_ulnar_synostosis_mental_retardation,,,,,,,, 7631,congenital_herpes_simplex,congenital_herpes_simplex,,,,,,, 7632,congenital_human_immunodeficiency_virus,,,,,,,, 7633,congenital_hypomyelination_neuropathy,,,,,,,, 7634,congenital_hypotrichosis_milia,,,,,,,L98.8, 7635,congenital_ichthyosis_microcephalus_quadriplegia,,,,,,,, 7636,congenital_lipoid_adrenal_hyperplasia,lipoid_congenital_adrenal_hyperplasia,,,,,,, 7637,congenital_lobar_emphysema,,,,,,C535735,Q33.8,66987001 7638,congenital_megalo_ureter,congenital_megalo-ureter,,,,,,, 7639,congenital_mitral_malformation,,,,,,,, 7640,congenital_mitral_stenosis,,,,,Q23.2,,Q23.2, 7641,congenital_mixovirus,,,,,,,, 7642,congenital_mumps,,,,,,,, 7643,congenital_muscular_dystrophy_syringomyelia,,,,,,,, 7644,congenital_muscular_dystrophy_type_1a,,,,,,,G71.2, 7645,congenital_myasthenic_syndrome_associated_with_acetylcholine_receptor_deficiency,,,,,,,, 7646,congenital_myasthenic_syndrome_with_episodic_apnea,,,,,,,, 7647,congenital_myotonic_dystrophy,,,,,,,, 7648,congenital_nephrotic_syndrome_finnish_type,,,,,,C535761,N04,197601003 7649,congenital_nonhemolytic_jaundice,,,,,,,, 7650,congenital_nonprogressive_myopathy_with_moebius_and_robin_sequences,,,,,,,Q87.0, 7651,congenital_porphyria,congenital_erythropoietic_porphyria,,,,,,E80.0,22935002 7652,congenital_pseudoarthrosis,,,,,,,, 7653,congenital_pulmonary_alveolar_proteinosis,,,,,,,, 7654,congenital_pulmonary_lymphangiectasia,,,,,,C537727,Q33.8,45142002 7655,congenital_radio_ulnar_synostosis,,,,,,,, 7656,congenital_rubella,congenital_rubella,,,,P35.0,D012410,P35.0,1857005 7657,congenital_short_femur,,,,,,,, 7658,congenital_stenosis_of_cervical_medullary_canal,,,,,,,, 7659,congenital_sucrase_isomaltase_deficiency,,,,,,C538139,E74.3,78373000 7660,congenital_sucrose_isomaltose_malabsorption,,,,,,,, 7661,congenital_torticollis,,,,,,,, 7662,congenital_tracheomalacia,,,,,Q32.0,,Q32.0,95467005 7663,congenital_unilateral_pulmonary_hypoplasia,,,,,,,Q33.6, 7664,congenital_vagal_hyperreflexivity,,,,,,,, 7665,congenital_varicella_syndrome,congenital_varicella_syndrome,,,,,,, 7666,congenitally_corrected_transposition_of_the_great_arteries,congenitally_corrected_transposition_of_the_great_arteries,,,,,C535426,Q20.5,83799000 7667,conjunctivitis_ligneous,ligneous_conjunctivitis,,,,,,H10.4,95840007|403435005 7668,conjunctivitis_with_pseudomembrane,,,,,H10|B30.1|H10.9|H13.2,,, 7669,connective_tissue_dysplasia_spellacy_type,,,,,,,, 7670,conotruncal_heart_malformations,,,,,,,, 7671,continuous_muscle_fiber_activity_hereditary,,,,,,,, 7672,continuous_spike_wave_during_slow_sleep_syndrome,,,,,,,F80.3, 7673,convulsions_benign_familial_neonatal_dominant_form,benign_familial_neonatal_convulsions,,,,,,, 7674,convulsions_benign_familial_infantile_1,,,,,,,, 7675,copper_deficiency_familial_benign,,,,,,C535468,E83.0, 7676,coq_responsive_oxphos_deficiency,,,,,,,, 7677,cor_biloculare,,,,,,,, 7678,cor_triatriatum,cor_triatriatum,,,,Q24.2,,Q24.2, 7679,cormier_rustin_munnich_syndrome,,,,,,,, 7680,cornea_guttata_with_anterior_polar_cataract,,,,,,,, 7681,corneal_anesthesia_deafness_mental_retardation,,,,,,,, 7682,corneal_dystrophy_and_perceptive_deafness,,,,,,,, 7683,corneal_dystrophy_avellino_type,avellino_corneal_dystrophy,,,,,C535474,H18.5,397568004 7684,corneal_dystrophy_crystalline_of_schnyder,schnyder_crystalline_corneal_dystrophy,,,,,,H18.5, 7685,corneal_dystrophy_fuchs_endothelial_1,,,,,,,, 7686,corneal_dystrophy_fuchs_endothelial_2,,,,,,,, 7687,corneal_dystrophy_ichthyosis_microcephaly_mental_retardation,,,,,,,, 7688,corneal_dystrophy_of_bowman_layer_type_1,,,,,,,H18.5, 7689,corneal_dystrophy_pigmentary_anomaly_malabsorption,,,,,,,, 7690,corneal_dystrophy_thiel_behnke_type,,,,,,,H18.5, 7691,corneal_endothelial_dystrophy_type_2,,,,,,,H18.5, 7692,corneal_hypesthesia_familial,,,,,,,, 7693,corneodermatoosseous_syndrome,corneodermatoosseous_syndrome,,,,,C536444|C537488,, 7694,coronal_synostosis_syndactyly_and_jejunal_atresia,,,,,,,, 7695,coronaro_cardiac_fistula,,,,,,,, 7696,coronary_arteries_congenital_malformation,,,,,,,Q24.5, 7697,coronary_artery_aneurysm,coronary_artery_aneurysm,,,,I25.4,,, 7698,corpus_callosum_agenesis,corpus_callosum_agenesis,,,,,,, 7699,corpus_callosum_agenesis_double_urinary_collecting,,,,,,,, 7700,corpus_callosum_agenesis_of_blepharophimosis_robin_type,,,,,,,, 7701,corpus_callosum_dysgenesis_cleft_spasm,,,,,,,, 7702,corpus_callosum_dysgenesis_hypopituitarism,,,,,,,, 7703,corpus_callosum_dysgenesis_x_linked_recessive,,,,,,,, 7704,cortada_koussef_matsumoto_syndrome,,,,,,,Q87.5, 7705,cortes_lacassie_syndrome,,,,,,,, 7706,cortical_blindness_mental_retardation_polydactyly,,,,,,,, 7707,cortical_defects_wormian_bones_and_dentinogenesis_imperfecta,,,,,,,, 7708,corticobasal_degeneration,corticobasal_degeneration,,,,,,G31.0,18842008 7709,corticosteroid_sensitive_aseptic_abscesses,,,,,,,, 7710,cortisone_reductase_deficiency,,,,,,,E25.8, 7711,costocoracoid_ligament_congenitally_short,,,,,,C536448,, 7712,cote_katsantoni_syndrome,,,,,,,, 7713,cough_headache,,,,,,,, 7714,cousin_syndrome,,,,,,C535550,Q87.5, 7715,cowchock_syndrome,cowchock_syndrome,,,,,,, 7716,coxa_vara_congenital,,,,,,,, 7717,coxoauricular_syndrome,,,,,,,Q87.1, 7718,cramp_fasciculation_syndrome,cramp_fasciculation_syndrome,,,,,,, 7719,crandall_syndrome,crandall_syndrome,,,,,,,278098005 7720,crane_heise_syndrome,,,,,,C536452,Q87.5, 7721,cranio_osteoarthropathy,,,,,,,M89.4,88220006 7722,cranioacrofacial_syndrome,,,,,,,Q87.0, 7723,craniodigital_syndrome_mental_retardation,,,,,,,, 7724,craniofacial_and_skeletal_defects,,,,,,,, 7725,craniofacial_deafness_hand_syndrome_2,,,,,,C536453,Q87.0, 7726,craniofacial_dysostosis_arthrogryposis_progeroid_appearence,,,,,,,, 7727,craniofacial_dysostosis_with_diaphyseal_hyperplasia,,,,,Q75.1,,Q78.8, 7728,craniofacial_dyssynostosis,,,,,,C536455,Q75.0, 7729,craniofacial_dystonia,,,,,,,, 7730,craniofrontonasal_syndrome_teebi_type,,,,,,,, 7731,craniometaphyseal_dysplasia_autosomal_recessive_type,,,,,,,, 7732,craniomicromelic_syndrome,,,,,,,Q87.0, 7733,craniorachischisis,craniorachischisis,,,,Q00.1,,Q00.1,32219008 7734,craniostenosis_cataract,,,,,,,, 7735,craniostenosis_with_congenital_heart_disease_mental_retardation,,,,,,,, 7736,craniosynostosis_alopecia_brain_defect,,,,,,,, 7737,craniosynostosis_arthrogryposis_cleft_palate,,,,,,,, 7738,craniosynostosis_autosomal_dominant,,,,,,,, 7739,craniosynostosis_cleft_lip_palate_arthrogryposis,,,,,,,, 7740,craniosynostosis_contractures_cleft,,,,,,,, 7741,craniosynostosis_exostoses_nevus_epibulbar_dermoid,,,,,,,, 7742,craniosynostosis_fontaine_type,,,,,,,, 7743,craniosynostosis_maroteaux_fonfria_type,,,,,,,, 7744,craniosynostosis_mental_retardation_clefting_syndrome,,,,,,,, 7745,craniosynostosis_mental_retardation_heart_defects,,,,,,,, 7746,craniosynostosis_philadelphia_type,,,,,,,Q75.0, 7747,craniosynostosis_anal_anomalies_and_porokeratosis,,,,,,,Q87.8, 7748,craniosynostosis_mental_retardation_syndrome_of_lin_and_gettig,,,,,,,, 7749,craniotelencephalic_dysplasia,,,,,,C535597,Q04.3, 7750,crawfurd_syndrome,,,,,,,, 7751,creeping_myiasis,,,,,,D007815,B87.0,19362000|240854000|278041003|417441005 7752,cretinism_athyreotic,,,,,,,, 7753,crigler_najjar_syndrome_type_2,,,,,,C536213,E80.5,68067009 7754,crisponi_syndrome,crisponi_syndrome,,,,,C536214,Q87.8, 7755,crohns_disease_of_the_esophagus,,,,,,,, 7756,crome_syndrome,crome_syndrome,,,,,,, 7757,crossed_polydactyly_type_1,,,,,,,, 7758,crossed_polysyndactyly,,,,,,,Q70.4, 7759,crumpled_helices_and_small_mouth,,,,,,,, 7760,cryofibrinogenemia,cryofibrinogenemia,,,,,,, 7761,cryoglobulinemia_familial_mixed,,,,,,,, 7762,cryopyrin_associated_periodic_syndrome,cryopyrin-associated_periodic_syndrome,,,,,,, 7763,cryptomicrotia_brachydactyly_syndrome,,,,,,,Q87.8, 7764,cryptophthalmos,,,,,,,, 7765,cryptorchidism_arachnodactyly_mental_retardation,,,,,,,, 7766,curly_hair_acral_keratoderma_caries_syndrome,,,,,,,Q82.8, 7767,currarino_triad,currarino_triad,,,,,C536221,Q42,413936007 7768,curry_jones_syndrome,,,,,,,Q87.0, 7769,cushing_syndrome_familial,,,,,,,, 7770,cushings_symphalangism,,,,,,C536223,Q70.9, 7771,cutaneous_larva_migrans,cutaneous_larva_migrans,,,,,,, 7772,cutaneous_necrotizing_vasculitis,cutaneous_vasculitis,,,,,,M31.0, 7773,cutaneous_photosensitivity_and_colitis_lethal,,,,,,C536224,L57.8, 7774,cutaneous_polyarteritis_nodosa,,,,,,,, 7775,cutaneous_sclerosis,,,,,,,, 7776,cutis_gyratum_acanthosis_nigricans_craniosynostosis,,,,,,,, 7777,cutis_laxa_osteoporosis,,,,,,,, 7778,cutis_laxa_autosomal_dominant,,,,,,,, 7779,cutis_laxa_autosomal_recessive_type_2a,,,,,,,, 7780,cutis_laxa_autosomal_recessive_type_2b,,,,,,,, 7781,cutis_marmorata_telangiectatica_congenita,cutis_marmorata_telangiectatica_congenita,,,,,C536226,Q82.8, 7782,cutis_verticis_gyrata,cutis_verticis_gyrata,,,,,,Q82.8,51603000 7783,cutis_verticis_gyrata_mental_deficiency,,,,,,,, 7784,cutler_bass_romshe_syndrome,,,,,,,, 7785,cyclic_thrombocytopenia,,,,,,,, 7786,cyclic_vomiting_syndrome,cyclic_vomiting_syndrome,,,,R11,,, 7787,cyprus_facial_neuromusculoskeletal_syndrome,,,,,,C536229,Q87.8, 7788,cystic_adenomatoid_malformation_of_lung,cystic_adenomatoid_malformation,,,,,,, 7789,cystic_hygroma_lethal_cleft_palate,,,,,,,, 7790,cystic_medial_necrosis_of_aorta,,,,,,,, 7791,cystinosis_ocular_nonnephropathic,,,,,,D003554,E72.0,190681003 7792,cytochrome_p450,cytochrome_p450,,,,,,, 7793,cytokine_deficiency,,,,,,,, 7794,cytokine_receptor_deficiency,cytokine_receptor,,,,,,, 7795,cytomegalic_inclusion_disease,cytomegalic_inclusion_disease,,,,,,, 7796,cytomegalovirus_retinitis,cytomegalovirus_retinitis,,,,,,, 7797,cytoplasmic_body_myopathy,,,,,,,, 7798,czech_dysplasia_metatarsal_type,,,,,,C535766,Q77.7, 7799,d_ercole_syndrome,,,,,,,, 7800,d_2_alpha_hydroxyglutaric_aciduria,,,,,,,, 7801,d_bifunctional_protein_deficiency,d-bifunctional_protein_deficiency,,,,,C535818|C536663,Q87.8|E71.3,238067002|238068007 7802,d_glycericacidemia,d-glycericacidemia,,,,,C535767,, 7803,d_minus_hemolytic_uremic_syndrome_d_hus,,,,,,,, 7804,d_plus_hemolytic_uremic_syndrome_d_hus,,,,,,,, 7805,daentl_towsend_siegel_syndrome,,,,,,,, 7806,dahlberg_borer_newcomer_syndrome,,,,,,C535769,, 7807,daish_hardman_lamont_syndrome,,,,,,,, 7808,dancing_eyes_dancing_feet_syndrome,,,,,,D053578,,230350000 7809,dandy_walker_complex,,,,,,,Q07.8, 7810,dandy_walker_cyst_with_renal_hepatic_pancreatic_dysplasia,,,,,,,, 7811,dandy_walker_like_malformation_with_atrioventricular_septal_defect,,,,,,C535313,Q87.8, 7812,dandy_walker_malformation_associated_with_macrocephaly_facial_anomalies_developmental_delay_and_brain_stem_dysgenesis,,,,,,,, 7813,dandy_walker_malformation_with_facial_hemangioma,,,,,,,, 7814,dandy_walker_malformation_with_mental_retardation_basal_ganglia_disease_and_seizures,,,,,,,, 7815,dandy_walker_malformation_with_mental_retardation_macrocephaly_myopia_and_brachytelephalangy,,,,,,,, 7816,dandy_walker_malformation_with_nasopharyngeal_teratoma_and_diaphragmatic_hernia,,,,,,,, 7817,dandy_walker_malformation_with_postaxial_polydactyly,,,,,,C535771,Q87.8, 7818,dandy_walker_malformation_with_sagittal_craniosynostosis_and_hydrocephalus,,,,,,,, 7819,daneman_davy_mancer_syndrome,,,,,,,Q87.8, 7820,dauwerse_peters_syndrome,,,,,,,, 7821,davenport_donlan_syndrome,,,,,,,, 7822,davis_lafer_syndrome,,,,,,,, 7823,de_barsy_syndrome,,,,,,C535990,Q87.8,238826008|59252009 7824,deafness_conductive_ptosis_skeletal_anomalies,,,,,,C535993,, 7825,deafness_conductive_stapedial_ear_malformation_facial_palsy,,,,,,,, 7826,deafness_craniofacial_syndrome,,,,,,,Q87.0, 7827,deafness_enamel_hypoplasia_nail_defects,,,,,,C535994,, 7828,deafness_goiter_stippled_epiphyses,,,,,,,, 7829,deafness_hyperuricemia_neurologic_ataxia,,,,,,,, 7830,deafness_hypogonadism_syndrome,,,,,,,, 7831,deafness_hypospadias_metacarpal_and_metatarsal_syndrome,,,,,,,, 7832,deafness_mesenteric_diverticula_of_small_bowel_neuropathy,,,,,,,, 7833,deafness_mixed_with_perilymphatic_gusher_x_linked,,,,,,,, 7834,deafness_nephritis_anorectal_malformation,,,,,,,Q87.8, 7835,deafness_oligodontia_syndrome,,,,,,C538049,, 7836,deafness_onychodystrophy_dominant_form,,,,,,,, 7837,deafness_onychodystrophy_osteodystrophy_and_mental_retardation_syndrome,,,,,,,, 7838,deafness_peripheral_neuropathy_arterial_disease,,,,,,,, 7839,deafness_progressive_cataract_autosomal_dominant,,,,,,,, 7840,deafness_vitiligo_achalasia,,,,,,,Q87.8, 7841,deafness_with_labyrinthine_aplasia_microtia_and_microdontia_lamm,,,,,,C548011,, 7842,deafness_x_linked_dfn3,,,,,,,, 7843,deafness_autosomal_dominant_nonsyndromic_sensorineural_17,,,,,,,, 7844,deafness_autosomal_dominant_nonsyndromic_sensorineural_22,,,,,,,, 7845,deafness_autosomal_dominant_nonsyndromic_sensorineural_23,,,,,,,, 7846,deafness_autosomal_dominant_nonsyndromic_sensorineural_24,,,,,,,, 7847,deafness_autosomal_dominant_nonsyndromic_sensorineural_3,,,,,,,, 7848,deafness_autosomal_dominant_nonsyndromic_sensorineural_53,,,,,,,, 7849,deafness_autosomal_recessive_51,,,,,,,, 7850,deafness_autosomal_recessive_55,,,,,,,, 7851,deafness_epiphyseal_dysplasia_short_stature,,,,,,,, 7852,deafness_isolated_due_to_mitochondrial_transmission,,,,,,,, 7853,deafness_neurosensory_nonsyndromic_recessive_dfn,,,,,,,, 7854,deafness_neurosensory_autosomal_recessive_47,,,,,,,, 7855,deafness_progressive_with_stapes_fixation,,,,,,,H74.3, 7856,deafness_x_linked_2,,,,,,,H90.8, 7857,deafness_x_linked_dfn,,,,,,,, 7858,deal_barratt_dillon_syndrome,,,,,,,, 7859,defective_apolipoprotein_b_100,,,,,,,, 7860,deficiency_of_interleukin_1_receptor_antagonist,,,,,,,, 7861,degos_en_cocarde_erythrokeratoderma,,,,,,,Q82.8, 7862,degos_disease,degos_disease,,,,,D054853,I77.8,400171002 7863,dehydrated_hereditary_stomatocytosis,,,,,,,, 7864,dehydrated_hereditary_stomatocytosis_pseudohyperkalemia_and_perinatal_edema,,,,,,,D58.8, 7865,delayed_membranous_cranial_ossification,,,,,,,Q75.8, 7866,delta_1_pyrroline_5_carboxylate_dehydrogenase_deficiency,,,,,,,, 7867,delta_sarcoglycanopathy,,,,,,,, 7868,dementia_familial_british,,,,,,C538208,G31.0, 7869,dementia_familial_danish,,,,,,C538209,G31.0, 7870,demodicidosis,demodicidosis,,,,,,B88.0, 7871,dendritic_cell_monocyte_b_lymphocyte_and_natural_killer_lymphocyte_deficiency,,,,,,,, 7872,dennis_fairhurst_moore_syndrome,,,,,,,, 7873,dens_in_dente_and_palatal_invaginations,,,,,,,, 7874,dent_disease_1,,,,,,,, 7875,dent_disease_2,,,,,,,N25.8, 7876,dentin_dysplasia_sclerotic_bones,,,,,,C538213,K00.5, 7877,dentin_dysplasia_coronal,,,,,,,, 7878,dentin_dysplasia_type_1,,,,,,C538215,K00.5,109493006 7879,dentinogenesis_imperfecta_1,,,,,,,K00.5, 7880,dentinogenesis_imperfecta_shields_type_3,,,,,,,K00.5, 7881,der_kaloustian_mcintosh_silver_syndrome,,,,,,,, 7882,dermal_eccrine_cylindroma,,,,,,,, 7883,dermatitis_herpetiformis_familial,,,,,,,, 7884,dermatocardioskeletal_syndrome_boronne_type,,,,,,,, 7885,dermatofibrosarcoma_protuberans,dermatofibrosarcoma_protuberans,,,,,C538219,,128742004|238863004|276799004 7886,dermatoleukodystrophy,,,,,,C538220,E75.2, 7887,dermatoosteolysis_kirghizian_type,,,,,,C535373,, 7888,dermatopathia_pigmentosa_reticularis,dermatopathia_pigmentosa_reticularis,,,,,C535374,Q82.4,239088003 7889,dermochondrocorneal_dystrophy_of_francois,,,,,,,, 7890,dermoids_of_cornea,,,,,,,, 7891,dermoodontodysplasia,dermoodontodysplasia,,,,,,Q82.4, 7892,desbuquois_syndrome,,,,,,C535943,Q78.8,254099008 7893,desmoid_disease_hereditary,,,,,,,, 7894,desmoid_tumor,desmoid_tumor,,,,,,D48.1, 7895,desmoplastic_infantile_astrocytoma,,,,,,,, 7896,desmoplastic_infantile_ganglioglioma,,,,,,,, 7897,desmoplastic_small_round_cell_tumor,desmoplastic_small-round-cell_tumor,,,,,D058405,C48.2,128735004 7898,desmosterolosis,desmosterolosis,,,,,,Q87.8, 7899,developmental_dysphasia_familial,,,,,,,F80.1, 7900,developmental_dysplasia_of_hip,,,,,,,, 7901,devic_disease,,,,,,,, 7902,devriendt_syndrome,,,,,,,, 7903,dextrocardia_with_situs_inversus,,,,,,,, 7904,dextrocardia_with_unusual_facies_and_microphthalmia,,,,,Q24.0,,, 7905,dfnb1,,,,,,,, 7906,di_guglielmos_syndrome,,,,,,,, 7907,diabetes_hypogonadism_deafness_mental_retardation,,,,,,,, 7908,diabetes_insipidus_nephrogenic_mental_retardation_and_intracerebral_calcification,,,,,,,, 7909,diabetes_persistent_mullerian_ducts,,,,,,,, 7910,diabetes_deafness_syndrome_maternally_transmitted,,,,,,C536246,E13|H90.3,237619009 7911,diabetic_mastopathy,,,,,,,, 7912,diamond_blackfan_anemia_2,,,,,,,, 7913,diamond_blackfan_anemia_3,,,,,,,, 7914,dianzani_autoimmune_lymphoproliferative_syndrome,,,,,,,, 7915,diaphragmatic_agenesis_radial_aplasia_omphalocele,,,,,,,, 7916,diaphragmatic_hernia_exomphalos_corpus_callosum_agenesis,,,,,,,, 7917,diaphragmatic_hernia_upper_limb_defects,,,,,,,, 7918,diaphyseal_medullary_stenosis_with_malignant_fibrous_histiocytoma,,,,,,,, 7919,diastematomyelia,diastematomyelia,,,,Q06.2,,Q06.2,49351009 7920,dibasic_aminoaciduria_1,,,,,,,, 7921,dibasic_aminoaciduria_2,dibasic_aminoaciduria_2,,,,,,, 7922,dicarboxylic_aminoaciduria,,,,,,C536171,E72.0, 7923,dicer1_related_pleuropulmonary_blastoma_cancer_predisposition_syndrome,,,,,,,, 7924,die_smulders_droog_van_dijk_syndrome,,,,,,,, 7925,die_smulders_vles_fryns_syndrome,,,,,,,, 7926,diencephalic_syndrome,,,,,,,C72.8,237733001 7927,dieterichs_disease,,,,,,,, 7928,diethylstilbestrol_antenatal_infection,,,,,,,, 7929,diffuse_astrocytoma,,,,,,,, 7930,diffuse_cavernous_hemangioma_of_the_rectum,,,,,,,, 7931,diffuse_dermal_angiomatosis,,,,,,,, 7932,diffuse_gastric_cancer,,,,,,,, 7933,diffuse_idiopathic_pulmonary_neuroendocrine_cell_hyperplasia,,,,,,,, 7934,diffuse_mesangial_sclerosis,,,,,,,, 7935,diffuse_neonatal_hemangiomatosis,diffuse_neonatal_hemangiomatosis,,,,,,D18.0, 7936,diffuse_palmoplantar_keratoderma_bothnian_type,,,,,,,, 7937,diffuse_panbronchiolitis,diffuse_panbronchiolitis,,,,,C536174,,430476004 7938,digitorenocerebral_syndrome,,,,,,,, 7939,dihydropteridine_reductase_deficiency,,,,,,,, 7940,dihydroxyadeninuria,,,,,,,, 7941,dilated_cardiomyopathy_with_hypergonadotropic_hypogonadism,,,,,,,, 7942,dincsoy_salih_patel_syndrome,,,,,,,, 7943,diomedi_bernardi_placidi_syndrome,,,,,,,, 7944,diphallia,diphallia,,,,,,Q55.6, 7945,diphallus_rachischisis_imperforate_anus,,,,,,,, 7946,diphosphoglycerate_mutase_deficiency_of_erythrocyte,,,,,,,, 7947,diploid_triploid_mosaicism,,,,,,,, 7948,diprosopia,,,,,,,, 7949,dipsogenic_diabetes_insipidus,,,,,R63.1,,, 7950,dissecting_cellulitis_of_the_scalp,dissecting_cellulitis_of_the_scalp,,,,,,L08.8, 7951,disseminated_infection_with_mycobacterium_avium_complex,,,,,,,, 7952,distal_arthrogryposis_moore_weaver_type,,,,,,,, 7953,distal_arthrogryposis_type_5,,,,,,,, 7954,distal_chromosome_18q_deletion_syndrome,,,,,,,Q93.5, 7955,distal_myopathy_markesbery_griggs_type,,,,,,C536815,G71.0, 7956,distal_myopathy_with_vocal_cord_weakness,,,,,,,G71.0, 7957,distal_primary_acidosis_familial,,,,,,,, 7958,distichiasis_heart_congenital_anomalies,,,,,,,, 7959,distomatosis,distomatosis,,,,,,, 7960,dk_phocomelia_syndrome,,,,,,,Q87.8, 7961,dobrow_syndrome,,,,,,,, 7962,dominant_cleft_palate,,,,,,,, 7963,dominant_ichthyosis_vulgaris,,,,,,,, 7964,dosage_sensitive_sex_reversal,,,,,,,Q97.3,95218005 7965,double_discordia,double_discordia,,,,,,, 7966,double_fingernail_of_fifth_finger,,,,,,,, 7967,double_inferior_vena_cava,,,,,,,, 7968,double_nails_on_the_fifth_toe,,,,,,,, 7969,double_outlet_left_ventricle,,,,,Q20.2,,Q20.2,7368005 7970,double_uterus_hemivagina_renal_agenesis,,,,,,,, 7971,dowling_degos_disease,,,,,,,L81.8,239133004 7972,doxorubicin_induced_cardiomyopathy,,,,,,,, 7973,doyne_honeycomb_retinal_dystrophy,,,,,,,H35.5, 7974,drachtman_weinblatt_sitarz_syndrome,,,,,,,, 7975,duane_anomaly_mental_retardation,,,,,,,, 7976,duane_syndrome_type_1,,,,,,,, 7977,duane_syndrome_type_2,,,,,,D004370,H50.8,60318001 7978,duane_syndrome_type_3,,,,,,,, 7979,duane_radial_ray_syndrome,duane-radial_ray_syndrome,,,,R68.2,,Q87.8, 7980,duhring_brocq_disease,,,,,,,, 7981,duker_weiss_siber_syndrome,,,,,,,, 7982,duodenal_atresia,,,,,,C535720,Q41.0,51118003 7983,duodenal_atresia_tetralogy_of_fallot,,,,,,,, 7984,duodenal_ulcer_due_to_antral_g_cell_hyperfunction,,,,,,,, 7985,duodenojejunal_atresia_with_volvulus_absent_dorsal_mesentery_and_absent_superior_mesenteric_artery,,,,,,,, 7986,duplication_of_leg_mirror_foot,,,,,,,, 7987,duplication_of_the_thumb_unilateral_biphalangeal,,,,,,,, 7988,duplication_of_urethra,,,,,,,Q64.7,69015003 7989,dupont_sellier_chochillon_syndrome,,,,,,,, 7990,dupuytren_subungual_exostosis,,,,,,,, 7991,dwarfism_bluish_sclerae,,,,,,,, 7992,dwarfism_deafness_retinitis_pigmentosa,,,,,,,, 7993,dwarfism_familial_with_muscle_spasms,,,,,,,, 7994,dwarfism_lethal_type_advanced_bone_age,,,,,,,, 7995,dwarfism_levi_type,,,,,,,, 7996,dwarfism_stiff_joint_ocular_abnormalities,,,,,,,Q87.1,72913007 7997,dwarfism_tall_vertebrae,,,,,,,, 7998,dwarfism_thin_bones_multiple_fractures,,,,,,,, 7999,dwarfism_low_birth_weight_type_with_unresponsiveness_to_growth_hormone,,,,,,,, 8000,dwarfism_mental_retardation_and_eye_abnormality,,,,,,,, 8001,dwarfism_proportionate_with_hip_dislocation,,,,,,,, 8002,dyggve_melchior_clausen_syndrome,,,,,,C535726,Q77.7,82699004 8003,dykes_markes_harper_syndrome,,,,,,,Q87.8,403779009 8004,dysautonomia_like_disorder,,,,,,,, 8005,dyschondrosteosis_nephritis,,,,,,,, 8006,dyschromatosis_symmetrica_hereditaria_1,dyschromatosis_symmetrica_hereditaria,,,,,C535729,L81.8,239085000 8007,dyschromatosis_universalis_hereditaria,dyschromatosis_universalis_hereditaria,,,,,,, 8008,dysequilibrium_syndrome,,,,,,,, 8009,dysesthetic_vulvodynia,,,,,,,, 8010,dysfibrinogenemia,dysfibrinogenemia,,,,,,, 8011,dysgnathia_complex,,,,,,,, 8012,dyskeratosis_congenita_autosomal_dominant,,,,,,D019871,Q82.8,74911008 8013,dyskeratosis_congenita_autosomal_recessive,,,,,,,, 8014,dyskeratosis_congenita_x_linked,,,,,,,, 8015,dyskinesia_drug_induced,,,,,,,, 8016,dysmorphism_abnormal_vocalization_mental_retardation,,,,,,,, 8017,dysmorphism_cleft_palate_loose_skin,,,,,,,, 8018,dysosteosclerosis,,,,,,,Q78.8,254123002 8019,dysostosis_acral_with_facial_and_genital_abnormalities,,,,,,,, 8020,dysostosis_peripheral,,,,,,,Q74.8, 8021,dysplasia_epiphysealis_hemimelica,,,,,,C537997,Q74.8,205480005 8022,dysplastic_cortical_hyperostosis,,,,,,,, 8023,dyssegmental_dysplasia_and_glaucoma,,,,,,,, 8024,dyssegmental_dysplasia_rolland_desbuquois_type,,,,,,C537999,Q77.7,95243004 8025,dyssegmental_dysplasia_silverman_handmaker_type,,,,,,,Q77.7, 8026,dystelephalangy,,,,,,,, 8027,dystonia_1,,,,,,,, 8028,dystonia_10,,,,,,,, 8029,dystonia_12,,,,,,,G24.1, 8030,dystonia_13,,,,,,,, 8031,dystonia_15_myoclonic,,,,,,C538002,G24.1, 8032,dystonia_16,,,,,,,G24.1, 8033,dystonia_17,,,,,,,, 8034,dystonia_18,,,,,,,, 8035,dystonia_19,,,,,,,, 8036,dystonia_2_torsion_autosomal_recessive,,,,,,,, 8037,dystonia_3_torsion_x_linked,,,,,,,G24.1, 8038,dystonia_4_torsion_autosomal_dominant_type,,,,,,,, 8039,dystonia_5_dopa_responsive_type,,,,,,,G24.1, 8040,dystonia_6_torsion,,,,,,,G24.1, 8041,dystonia_7_torsion,,,,,,,, 8042,dystonia_8,,,,,,,, 8043,eaf,,,,,,,, 8044,eagle_syndrome,,,,,,,, 8045,eales_disease,,,,,,C538011,H35.0,54122009 8046,early_onset_ataxia_with_oculomotor_apraxia_and_hypoalbuminemia,,,,,,,G11.3, 8047,eccentrochondrodysplasia,,,,,,,, 8048,eccrine_mucinous_carcinoma,,,,,,,, 8049,ectodermal_dysplasia,ectodermal_dysplasia,,,,,,, 8050,ectodermal_dysplasia_adrenal_cyst,,,,,,,, 8051,ectodermal_dysplasia_alopecia_preaxial_polydactyly,,,,,,,, 8052,ectodermal_dysplasia_arthrogryposis_diabetes_mellitus,,,,,,,, 8053,ectodermal_dysplasia_bartalos_type,,,,,,,, 8054,ectodermal_dysplasia_berlin_type,,,,,,,Q82.4, 8055,ectodermal_dysplasia_blindness,,,,,,,Q87.8, 8056,ectodermal_dysplasia_margarita_type,,,,,,,, 8057,ectodermal_dysplasia_mental_retardation_cns_malformation,,,,,,,, 8058,ectodermal_dysplasia_mental_retardation_syndactyly,,,,,,,, 8059,ectodermal_dysplasia_neurosensory_deafness,,,,,,,, 8060,ectodermal_dysplasia_skin_fragility_syndrome_2,,,,,,C536183,Q81.0, 8061,ectodermal_dysplasia_trichoodontoonychial_type,,,,,,,Q82.4, 8062,ectodermal_dysplasia_with_natal_teeth_turnpenny_type,,,,,Q82.4,,, 8063,ectodermal_dysplasia_hidrotic_christianson_fourie_type,,,,,,C536180,Q82.8, 8064,ectodermal_dysplasia_sensorineural_hearing_loss_and_distinctive_facial_features,,,,,,,, 8065,ectopia_lentis_isolated_autosomal_recessive,,,,,,,, 8066,ectopia_pupillae,,,,,,,, 8067,ectopic_pregnancy,ectopic_pregnancy,,,,O00,,, 8068,ectrodactyly_and_ectodermal_dysplasia_without_cleft_lip_palate,,,,,,,, 8069,ectrodactyly_cardiopathy_dysmorphism,,,,,,,, 8070,ectrodactyly_cleft_palate_syndrome,,,,,,,, 8071,ectrodactyly_polydactyly,,,,,,,Q74.8, 8072,ectropion_inferior_cleft_lip_and_or_palate,,,,,,,, 8073,edinburgh_malformation_syndrome,,,,,,,Q95.2, 8074,eec_syndrome,,,,,,,, 8075,eem_syndrome,eem_syndrome,,,,,,Q87.8, 8076,egg_shaped_pupils,,,,,,,, 8077,ehlers_danlos_syndrome_arthrochalasia_type,,,,,,,Q79.6, 8078,ehlers_danlos_syndrome_beasley_cohen_type,,,,,,,, 8079,ehlers_danlos_syndrome_dermatosparaxis_type,,,,,,,Q79.6,55711009 8080,ehlers_danlos_syndrome_dysfibronectinemic_type,,,,,,,, 8081,ehlers_danlos_syndrome_kyphoscoliotic_type,,,,,,,, 8082,ehlers_danlos_syndrome_progeroid_type,,,,,,,, 8083,ehlers_danlos_syndrome_type_5,,,,,,,, 8084,ehlers_danlos_like_syndrome_due_to_tenascin_x_deficiency,,,,,,,, 8085,eisenmenger_syndrome,,,,,,,I27.2, 8086,elastosis_perforans_serpiginosa,elastosis_perforans_serpiginosa,,,,L87.2,C536202,L87.2,49428008 8087,elective_mutism,,,,,F94.0,,, 8088,elliott_ludman_teebi_syndrome,,,,,,,, 8089,ellis_yale_winter_syndrome,,,,,,,, 8090,embryonal_sarcoma,,,,,,,, 8091,emerinopathy,,,,,,,, 8092,emery_dreifuss_muscular_dystrophy_dominant_type,,,,,,,, 8093,emery_dreifuss_muscular_dystrophy_x_linked,,,,,,,, 8094,enamel_hypoplasia_cataract_hydrocephaly,,,,,,,, 8095,encephalocele,encephalocele,,,,Q01|Q01.9,,, 8096,encephalocele_anencephaly,,,,,,,, 8097,encephalocraniocutaneous_lipomatosis,,,,,,C535736,E88.2,238905009 8098,encephalomyopathy,,,,,,,, 8099,encephalopathy_intracranial_calcification_growth_hormone_deficiency_microcephaly_retinal_degeneration,,,,,,,, 8100,encephalopathy_recurrent_of_childhood,,,,,,,, 8101,enchondroma,enchondroma,,,,,,, 8102,enchondromatosis_dwarfism_deafness,,,,,,,, 8103,endemic_kaposi_sarcoma,,,,,,,, 8104,endolymphatic_sac_tumor,endolymphatic_sac_tumor,,,,,,, 8105,endomyocardial_fibroelastosis,,,,,,,I42.4, 8106,eng_strom_syndrome,,,,,,,, 8107,engelhard_yatziv_syndrome,,,,,,,, 8108,enolase_deficiency_type_1,,,,,,,, 8109,enolase_deficiency_type_2,,,,,,,, 8110,enolase_deficiency_type_3,,,,,,,, 8111,enolase_deficiency_type_4,,,,,,,, 8112,enteropathica,,,,,,,, 8113,enteropathy_associated_t_cell_lymphoma,,,,,C86.2,D058527,C84.4,103686008|277654008 8114,enterovirus_antenatal_infection,,,,,,,, 8115,enthesitis_related_juvenile_idiopathic_arthritis,,,,,,,, 8116,envenomization_by_bothrops_lanceolatus,,,,,,,T63.0, 8117,eosinophilic_cryptitis,,,,,,,, 8118,eosinophilic_cystitis,,,,,,,, 8119,eosinophilic_enteropathy,,,,,,,, 8120,eosinophilic_fasciitis,eosinophilic_fasciitis,,,,M35.4,,M35.4, 8121,eosinophilic_pustular_folliculitis,,,,,,,, 8122,ependymoma,ependymoma,,,,,,, 8123,epidermal_nevus_vitamin_d_resistant_rickets,,,,,,,, 8124,epidermolysa_bullosa_simplex_with_muscular_dystrophy,,,,,,,, 8125,epidermolysis_bullosa_simplex_with_mottled_pigmentation,epidermolysis_bullosa_simplex_with_mottled_pigmentation,,,,,C535959,Q81.0,254180002 8126,epidermolysis_bullosa_simplex_dowling_meara_type,,,,,,,Q81.0, 8127,epidermolysis_bullosa_simplex_generalized,,,,,,C535961,Q81.0,90496008 8128,epidermolysis_bullosa_simplex_localized,,,,,,,Q81.0, 8129,epidermolysis_bullosa_simplex_ogna_type,,,,,,C535962,Q81.0,398071000 8130,epidermolysis_bullosa_late_onset_localized_junctional_with_mental_retardation,,,,,,,, 8131,epidermolysis_bullosa_lethal_acantholytic,lethal_acantholytic_epidermolysis_bullosa,,,,,C535493,Q81.0, 8132,epidermolysis_bullosa_pretibial,,,,,,,Q81.2, 8133,epilepsy_benign_neonatal_dominant_form,,,,,,,, 8134,epilepsy_benign_neonatal_recessive_form,,,,,,,, 8135,epilepsy_mental_deterioration_finnish_type,,,,,,,, 8136,epilepsy_occipital_calcifications,,,,,,,, 8137,epilepsy_progressive_myoclonic_type_3,,,,,,,G40.3, 8138,epilepsy_telangiectasia,,,,,,C535497,G40.8, 8139,epilepsy_benign_occipital,,,,,,,G40.0, 8140,epilepsy_female_restricted_with_mental_retardation,,,,,,,, 8141,epilepsy_nocturnal_frontal_lobe_type,,,,,,,, 8142,epilepsy_partial_familial,,,,,,,G40.1, 8143,epilepsy_rolandic_with_paroxysmal_exercise_induced_dystonia_and_writers_cramp,,,,,,C535499,, 8144,epileptic_encephalopathy_lennox_gastaut_type,,,,,,C535500,G40.4,230418006 8145,epimetaphyseal_dysplasia_cataract,,,,,,,, 8146,epimetaphyseal_skeletal_dysplasia,,,,,,,Q77.8, 8147,epiphyseal_dysplasia_dysmorphism_camptodactyly,,,,,,,, 8148,epiphyseal_dysplasia_hearing_loss_dysmorphism,,,,,,,Q87.0, 8149,epiphyseal_dysplasia_multiple_with_early_onset_diabetes_mellitus,,,,,,C536739,E10,254066006 8150,episodic_ataxia_with_nystagmus,,,,,,,, 8151,epithelial_basement_membrane_corneal_dystrophy,,,,,,,H18.5, 8152,epitheliopathy_acute_posterior_multifocal_placoid_pigment,acute_posterior_multifocal_placoid_pigment_epitheliopathy,,,,,,, 8153,ermine_phenotype,,,,,,C535508,E70.3, 8154,erosive_pustular_dermatosis_of_the_scalp,erosive_pustular_dermatosis_of_the_scalp,,,,,,,238733003 8155,erythema_elevatum_diutinum,erythema_elevatum_diutinum,,,,L95.1,C535509,L95.1,254757003|58872001 8156,erythema_nodosum_idiopathic,,,,,L52,,, 8157,erythroderma_desquamativa_of_leiner,,,,,,,, 8158,erythroderma_lethal_congenital,,,,,,C535513,L26, 8159,erythrokeratodermia_variabilis_et_progressiva,,,,,,,, 8160,erythroplakia,erythroplakia,,,,,,, 8161,erythropoietic_uroporphyria_associated_with_myeloid_malignancy,,,,,,,E80.2, 8162,escher_hirt_syndrome,,,,,,,, 8163,escobar_syndrome_type_b,,,,,,,, 8164,esophageal_atresia_coloboma_talipes,,,,,,,, 8165,esophageal_cancer_childhood,,,,,,,, 8166,essential_thrombocythemia,essential_thrombocythemia,,,,,D013920,D47.3|D75.2,109994006|128844009 8167,ethylmalonic_encephalopathy,ethylmalonic_encephalopathy,,,,,C535737,, 8168,eunuchoidism_familial_hypogonadotropic,,,,,,,, 8169,ewings_family_of_tumors,,,,,,,, 8170,exencephaly,exencephaly,,,,,,, 8171,exercise_induced_anaphylaxis,,,,,,,, 8172,exercise_induced_hyperinsulinemic_hypoglycemia,,,,,,,E16.1, 8173,exertional_headache,,,,,,,, 8174,exfoliative_dermatitis,exfoliative_dermatitis,,,,L26,,, 8175,exogenous_ochronosis,,,,,,,, 8176,exostoses_anetodermia_brachydactyly_type_e,,,,,,,Q87.5, 8177,exostoses_multiple_type_1,,,,,,,Q78.6, 8178,exostoses_multiple_type_2,,,,,,,, 8179,exostoses_multiple_type_3,,,,,,,, 8180,exstrophy_of_the_bladder,bladder_exstrophy,,,,,D001746,Q64.1,61758007 8181,exstrophy_of_the_bladder_epispadias,,,,,,,, 8182,exsudative_retinopathy_familial_autosomal_dominant,,,,,,,, 8183,exsudative_retinopathy_familial_autosomal_recessive,,,,,,,, 8184,exsudative_retinopathy_familial_x_linked_recessive,,,,,,,, 8185,exsudative_retinopathy_familial,,,,,,,, 8186,extracranial_germ_cell_tumor_childhood,,,,,,,, 8187,extragonadal_germ_cell_tumor,,,,,,,, 8188,extrasystoles_short_stature_hyperpigmentation_microcephaly,,,,,,,, 8189,eyebrows_duplication_of_with_stretchable_skin_and_syndactyly,,,,,,,, 8190,faces_syndrome,faces_syndrome,,,,,C536384,Q87.0, 8191,facial_asymetry_temporal_seizures,,,,,,,, 8192,facial_clefting_corpus_callosum_agenesis,,,,,,,, 8193,facial_ectodermal_dysplasia,,,,,,,, 8194,facies_unusual_arthrogryposis_advanced_skeletal_malformations,,,,,,,, 8195,facio_digito_genital_syndrome_recessive_form,,,,,,,, 8196,facio_skeletal_genital_syndrome_rippberger_type,,,,,,,, 8197,facio_thoraco_genital_syndrome,,,,,,,, 8198,faciocardiomelic_dysplasia_lethal,,,,,,,Q87.8, 8199,faciocardiorenal_syndrome,,,,,,C536388,Q87.8, 8200,faciomandibular_myoclonus_nocturnal,,,,,,,, 8201,factor_2_deficiency,,,,,,,, 8202,fairbank_disease,fairbank_disease,,,,,,, 8203,fallot_complex_with_severe_mental_and_growth_retardation,,,,,,,, 8204,familial_arteriosclerotic_leukoencephalopathy_alopecia_lumbago_without_arterial_hypertension,,,,,,,, 8205,familial_avascular_necrosis_of_the_femoral_head,,,,,,,, 8206,familial_band_heterotopia,,,,,,,, 8207,familial_bilateral_striatal_necrosis,,,,,,,, 8208,familial_breast_cancer,,,,,,,, 8209,familial_capillaro_venous_leptomeningeal_angiomatosis,,,,,,,, 8210,familial_cold_autoinflammatory_syndrome,familial_cold_autoinflammatory_syndrome,,,,,,, 8211,familial_colorectal_cancer,,,,,,,, 8212,familial_congenital_fourth_cranial_nerve_palsy,,,,,,,H49.1, 8213,familial_cylindromatosis,cylindromatosis,,,,,C536611,,211710004 8214,familial_deafness,,,,,,,, 8215,familial_dermographism,,,,,,,, 8216,familial_dilated_cardiomyopathy,,,,,,,, 8217,familial_encephalopathy_with_neuroserpin_inclusion_bodies,familial_encephalopathy_with_neuroserpin_inclusion_bodies,,,,,C536841,G31.8, 8218,familial_eosinophilia,,,,,,,, 8219,familial_erythema_nodosum,,,,,,,, 8220,familial_erythrocytosis_1,,,,,,,, 8221,familial_glucocorticoid_deficiency,familial_glucocorticoid_deficiency,,,,,,, 8222,familial_hdl_deficiency,,,,,,,, 8223,familial_hemiplegic_migraine_type_1,,,,,,,, 8224,familial_hemiplegic_migraine_type_2,,,,,,,, 8225,familial_hemiplegic_migraine_type_3,,,,,,,, 8226,familial_hyperaldosteronism_type_2,,,,,,,E26.0, 8227,familial_hypersecretion_of_adrenal_androgens,,,,,,,, 8228,familial_hypersensitivity_pneumonitis,,,,,,,, 8229,familial_hypertension,familial_hypertension,,,,,,, 8230,familial_hyperthyroidism_due_to_mutations_in_tsh_receptor,,,,,,,E05.8, 8231,familial_hypocalciuric_hypercalcemia,familial_hypocalciuric_hypercalcemia,,,,,,, 8232,familial_hypocalciuric_hypercalcemia_type_1,,,,,,,, 8233,familial_hypocalciuric_hypercalcemia_type_2,,,,,,C537146,E83.5, 8234,familial_hypocalciuric_hypercalcemia_type_3,,,,,,C537147,E83.5, 8235,familial_hypopituitarism,,,,,,,, 8236,familial_hypothyroidism,,,,,,,, 8237,familial_interstitial_fibrosis,,,,,,,, 8238,familial_isolated_hyperparathyroidism,,,,,,,, 8239,familial_isolated_pituitary_adenoma,,,,,,,, 8240,familial_juvenile_hyperuricaemic_nephropathy,,,,,,,, 8241,familial_multiple_trichodiscomas,,,,,,,, 8242,familial_myelofibrosis,,,,,,,, 8243,familial_nasal_acilia,,,,,,,Q30.8, 8244,familial_neurocardiogenic_syncope,,,,,,,, 8245,familial_opposable_triphalangeal_thumbs_duplication,,,,,,,, 8246,familial_partial_paralysis,,,,,,,, 8247,familial_platelet_disorder_with_associated_myeloid_malignancy,,,,,,,D69.4, 8248,familial_porencephaly,,,,,,,, 8249,familial_prostate_cancer,,,,,,,, 8250,familial_pulmonary_arterial_hypertension_leucopenia_and_atrial_septal_defect,,,,,,,, 8251,familial_renal_cell_carcinoma,,,,,,,, 8252,familial_streblodactyly,,,,,,,, 8253,familial_thoracic_aortic_aneurysm_and_dissection,familial_thoracic_aortic_aneurysm,,,,,,I71.0, 8254,familial_treacher_collins_syndrome,,,,,,,, 8255,familial_tumoral_calcinosis,familial_tumoral_calcinosis,,,,,,, 8256,familial_ventricular_tachycardia,familial_ventricular_tachycardia,,,,,,, 8257,familial_visceral_myopathy_with_external_ophthalmoplegia,,,,,,,G71.0, 8258,familial_wilms_tumor_2,,,,,,,, 8259,fanconi_bickel_syndrome_2,,,,,,,E74.4|E74.0,237982007 8260,fanconi_ichthyosis_dysmorphism,,,,,,,N25.8, 8261,fanconi_like_syndrome,,,,,,,, 8262,fanconi_renotubular_syndrome,,,,,,,, 8263,fara_chlupackova_syndrome,,,,,,,, 8264,fasting_hypoglycemia,,,,,,,, 8265,fatal_infantile_encephalomyopathy,,,,,,,, 8266,faulk_epstein_jones_syndrome,,,,,,,, 8267,faye_petersen_ward_carey_syndrome,,,,,,,, 8268,fazio_londe_syndrome,,,,,,,, 8269,febrile_infection_related_epilepsy_syndrome,febrile_infection-related_epilepsy_syndrome,,,,,,, 8270,febrile_ulceronecrotic_mucha_habermann_disease,,,,,,,, 8271,feigenbaum_bergeron_richardson_syndrome,,,,,,,, 8272,feigenbaum_bergeron_syndrome,,,,,,,, 8273,feingold_syndrome,feingold_syndrome,,,,,,Q87.8, 8274,feingold_trainer_syndrome,,,,,,,, 8275,femoral_facial_syndrome,,,,,,C537916,Q87.8, 8276,femur_bifid_with_monodactylous_ectrodactyly,,,,,,,Q74.8, 8277,femur_fibula_ulna_syndrome,,,,,,,, 8278,fenton_wilkinson_toselano_syndrome,,,,,,,, 8279,fertile_eunuch_syndrome,,,,,,,, 8280,fetal_akinesia_deformation_sequence,fetal_akinesia_deformation_sequence,,,,Q74.3,,Q87.8, 8281,fetal_akinesia_syndrome_x_linked,,,,,,,, 8282,fetal_aminopterin_syndrome,aminopterin,,,,,,, 8283,fetal_and_neonatal_alloimmune_thrombocytopenia,,,,,,,P61.0, 8284,fetal_antihypertensive_drugs_syndrome,,,,,,,, 8285,fetal_brain_disruption_sequence,,,,,,,Q02, 8286,fetal_diethylstilbestrol_syndrome,,,,,,,, 8287,fetal_edema,,,,,,,, 8288,fetal_enterovirus_syndrome,,,,,,,, 8289,fetal_hydantoin_syndrome,fetal_hydantoin_syndrome,,,,Q86.1,C537922,Q86.1,70065001 8290,fetal_indomethacin_syndrome,,,,,,,, 8291,fetal_iodine_syndrome,,,,,,,P72.2, 8292,fetal_left_ventricular_aneurysm,,,,,,,Q24.8, 8293,fetal_macrosomia,fetal_macrosomia,,,,,,, 8294,fetal_methimazole_syndrome,,,,,,,, 8295,fetal_methyl_mercury_syndrome,fetal_methyl_mercury_syndrome,,,,,,T56.1, 8296,fetal_minoxidil_syndrome,,,,,,,Q86.8,254251003 8297,fetal_parainfluenza_virus_type_3_syndrome,,,,,,,, 8298,fetal_parvovirus_syndrome,fetal_parvovirus_syndrome,,,,,,P35.8, 8299,fetal_phenothiazine_syndrome,,,,,,,, 8300,fetal_retinoid_syndrome,,,,,,,, 8301,fetal_thalidomide_syndrome,,,,,,,Q86.8,36193003 8302,fetal_valproate_syndrome,fetal_valproate_syndrome,,,,,C536525,Q86.8,17231009 8303,fetal_warfarin_syndrome,fetal_warfarin_syndrome,,,,,,, 8304,fg_syndrome_2,,,,,,,, 8305,fg_syndrome_3,,,,,,,, 8306,fg_syndrome_4,,,,,,,, 8307,fibrinogen_deficiency_congenital,,,,,,,, 8308,fibrocartilaginous_embolism,,,,,,,, 8309,fibrochondrogenesis,fibrochondrogenesis,,,,,,Q77.7,17144009 8310,fibromatosis,fibromatosis,,,,,,, 8311,fibromatosis_multiple_non_ossifying,,,,,,,M89.2, 8312,fibromuscular_dysplasia,fibromuscular_dysplasia,,,,,C537929|D005352,I77.3,359553002 8313,fibrosing_mediastinitis,,,,,,C536136,J98.5,21247003|361196000|7377003 8314,fibula_aplasia_complex_brachydactyly,,,,,,,, 8315,fibular_aplasia,,,,,,,, 8316,fibular_aplasia_ectrodactyly,,,,,,C537930,Q73.8, 8317,fibular_aplasia_tibial_campomelia_and_oligosyndactyly_syndrome,,,,,,,, 8318,fibular_hypoplasia_and_complex_brachydactyly,,,,,,,Q73.8, 8319,fibular_hypoplasia_scapulo_pelvic_dysplasia_absent,,,,,,,, 8320,filippi_syndrome,,,,,,C538152,Q87.8, 8321,fine_lubinsky_syndrome,,,,,,C537933,Q87.8, 8322,finger_locking_recurrent_with_intrauterine_growth_retardation_and_proportionate_short_stature,,,,,,,Q87.1, 8323,fish_eye_disease,fish-eye_disease,,,,,C538467,E78.6,238092004 8324,fitz_hugh_curtis_syndrome,,,,,,,, 8325,fitzsimmons_syndrome,fitzsimmons_syndrome,,,,,,, 8326,fitzsimmons_walson_mellor_syndrome,,,,,,,, 8327,fitzsimmons_guilbert_syndrome,,,,,,,, 8328,flat_umbilicus_familial,,,,,,,, 8329,flavimonas_oryzihabitans_infection,,,,,,,, 8330,florid_cemento_osseous_dysplasia,,,,,,C537063,D16.4|D16.5,63937004 8331,florid_cystic_endosalpingiosis_of_the_uterus,,,,,,,, 8332,florid_papillomatosis_of_the_nipple,,,,,,,, 8333,flotch_syndrome,,,,,,C537065,L60.8, 8334,flynn_aird_syndrome,,,,,,C537066,Q87.8,239056006 8335,focal_alopecia_congenital_megalencephaly,,,,,,,, 8336,focal_cortical_dysplasia_of_taylor,,,,,,,, 8337,focal_dystonia,focal_dystonia,,,,,,G24.3|G24.4|G24.5|G24.8,445006008 8338,focal_facial_dermal_dysplasia,focal_facial_dermal_dysplasia,,,,,C536385|C537068,,239051001|254238008|403771007 8339,focal_or_multifocal_malformations_in_neuronal_migration,,,,,,,, 8340,foix_chavany_marie_syndrome,,,,,,C537069,G52.7, 8341,follicle_stimulating_hormone_deficiency_isolated,,,,,,C537070,E23.6, 8342,follicular_dendritic_cell_tumor,,,,,,,, 8343,follicular_lymphoma,follicular_lymphoma,,,,C82,D008224,C82,277618009|308121000|55150002 8344,follicular_lymphoreticuloma,,,,,,,, 8345,fontaine_farriaux_blanckaert_syndrome,,,,,,,, 8346,forbes_albright_syndrome,,,,,,,, 8347,formaldehyde_poisoning,,,,,,,, 8348,fountain_syndrome,fountain_syndrome,,,,,C537270,Q87.8, 8349,fournier_gangrene,fournier_gangrene,,,,,,, 8350,fowlers_syndrome,,,,,,,, 8351,fragile_x_syndrome_type_1,,,,,,,, 8352,fragile_x_syndrome_type_2,,,,,,,, 8353,fragile_x_syndrome_type_3,,,,,,,, 8354,fragile_xe_syndrome,,,,,,,, 8355,franceschini_vardeu_guala_syndrome,,,,,,,, 8356,franek_bocker_kahlen_syndrome,,,,,,,, 8357,frank_ter_haar_syndrome,,,,,,,, 8358,fraser_jequier_chen_syndrome,,,,,,,, 8359,fraser_like_syndrome,,,,,,,, 8360,fraser_syndrome,fraser_syndrome,,,,,D058497,Q87.0, 8361,fraxd,,,,,,,, 8362,freeman_sheldon_syndrome,freeman-sheldon_syndrome,,,,,C535483,Q87.0,52616002 8363,freibergs_disease,,,,,,,, 8364,freire_maia_odontotrichomelic_syndrome,,,,,,,, 8365,frenkel_russe_syndrome,,,,,,,, 8366,frias_syndrome,,,,,,,, 8367,friedel_heid_grosshans_syndrome,,,,,,,, 8368,friedreich_ataxia_congenital_glaucoma,,,,,,,, 8369,frints_de_smet_fabry_fryns_syndrome,,,,,,,, 8370,frontal_fibrosing_alopecia,frontal_fibrosing_alopecia,,,,,,L66.1, 8371,fronto_nasal_malformation_cloacal_exstrophy,,,,,,,, 8372,frontofacionasal_dysplasia,,,,,,,Q75.8, 8373,frontometaphyseal_dysplasia,,,,,,C538064,Q78.5,62803002 8374,frontonasal_dysplasia,frontonasal_dysplasia,,,,,C538065,Q75.8, 8375,frontonasal_dysplasia_acromelic,,,,,,C535657,Q75.8, 8376,frontonasal_dysplasia_klippel_feil_syndrome,,,,,,,, 8377,frontonasal_dysplasia_phocomelic_upper_limbs,,,,,,,, 8378,frontotemporal_dementia_ubiquitin_positive,,,,,,,, 8379,froster_huch_syndrome,,,,,,,Q87.8, 8380,fructosuria,fructosuria,,,,,,, 8381,fryns_fabry_remans_syndrome,,,,,,,, 8382,fryns_hofkens_fabry_syndrome,,,,,,,Q78.8, 8383,fryns_smeets_thiry_syndrome,,,,,,,, 8384,fuchs_atrophia_gyrata_chorioideae_et_retinae,,,,,,,, 8385,fucosidosis_type_1,,,,,,,, 8386,fuhrmann_syndrome,,,,,,C538189,Q74.8, 8387,fukuda_miyanomae_nakata_syndrome,,,,,,,, 8388,fukuyama_type_muscular_dystrophy,fukuyama-type_muscular_dystrophy,,,,,,, 8389,functioning_pancreatic_endocrine_tumor,functioning_pancreatic_endocrine_tumor,,,,,,, 8390,fundus_dystrophy_pseudoinflammatory_of_sorsby,,,,,,,, 8391,fuqua_berkovitz_syndrome,,,,,,,, 8392,furunculous_myiasis,,,,,,,B87.0, 8393,fused_mandibular_incisors,fused_mandibular_incisors,,,,,C535997,K00.2, 8394,galactorrhoea_hyperprolactinaemia,,,,,,,, 8395,galactosialidosis,galactosialidosis,,,,,C536411,E77.1,35691006 8396,game_friedman_paradice_syndrome,,,,,,,, 8397,gamma_cystathionase_deficiency,cystathionase_deficiency,,,,,C535408,E72.1,13003007|367036006|6885006 8398,gapo_syndrome,,,,,,,Q87.8, 8399,gardner_morrison_abbot_syndrome,,,,,,,, 8400,gardner_syndrome,,,,,,,, 8401,gardner_diamond_syndrome,,,,,,,, 8402,garret_tripp_syndrome,,,,,,,, 8403,gas_bloat_syndrome,gas_bloat_syndrome,,,,,,, 8404,gastric_duplication_cysts,,,,,,,, 8405,gastro_enteropancreatic_neuroendocrine_tumor,,,,,,,, 8406,gastrocutaneous_syndrome,gastrocutaneous_syndrome,,,,,C535651,, 8407,gaucher_disease_perinatal_lethal,,,,,,,E75.2, 8408,gaucher_ichthyosis_restrictive_dermopathy,,,,,,,, 8409,gay_feinmesser_cohen_syndrome,,,,,,,, 8410,gelatinous_ascites,,,,,,,, 8411,geleophysic_dwarfism,geleophysic_dwarfism,,,,,,, 8412,gemignani_syndrome,,,,,,C537678,, 8413,genee_wiedemann_syndrome,,,,,,,Q75.4, 8414,generalized_dominant_dystrophic_epidermolysis_bullosa,,,,,,,, 8415,generalized_resistance_to_thyroid_hormone,,,,,,,, 8416,generalized_torsion_dystonia,,,,,,,, 8417,genetic_reflex_epilepsy,,,,,,,, 8418,geniospasm,geniospasm,,,,,C537682,G25.3, 8419,genital_dwarfism,,,,,,,, 8420,genital_dwarfism_turner_type,,,,,,,, 8421,genito_palato_cardiac_syndrome,,,,,,C537683,Q87.8, 8422,genitopatellar_syndrome,genitopatellar_syndrome,,,,,,Q87.8, 8423,genoa_syndrome,,,,,,,Q04.2|Q75.0, 8424,genochondromatosis,,,,,,,,389264005 8425,genu_valgum_st_helena_familial,,,,,,,, 8426,german_syndrome,german_syndrome,,,,,C537798,Q86.8,66351003 8427,germinoma,germinoma,,,,,,, 8428,geroderma_osteodysplasticum,geroderma_osteodysplasticum,,,,,C537799,Q82.8,254116003 8429,gershinibaruch_leibo_syndrome,,,,,,,, 8430,gershoni_baruch_syndrome,,,,,,,, 8431,gestational_diabetes_insipidus,,,,,,,, 8432,gestational_trophoblastic_tumor,gestational_trophoblastic_tumor,,,,,,, 8433,ghosal_hematodiaphyseal_dysplasia_syndrome,ghosal_hematodiaphyseal_dysplasia,,,,,,, 8434,ghose_sachdev_kumar_syndrome,,,,,,,, 8435,gianotti_crosti_syndrome,,,,,L44.4,,, 8436,giant_cell_myocarditis,giant_cell_myocarditis,,,,,,, 8437,giant_congenital_nevus,,,,,,,, 8438,giant_ganglionic_hyperplasia,,,,,,,, 8439,giant_mammary_hamartoma,,,,,,,, 8440,gigantism,gigantism,,,,,,, 8441,gigantism_advanced_bone_age_hoarse_cry,,,,,,,, 8442,gigantomastia,gigantomastia,,,,,,, 8443,gingival_fibromatosis_with_distinctive_facies,,,,,,,, 8444,gingival_fibromatosis_with_hypertrichosis,,,,,,,, 8445,gingival_fibromatosis_1,,,,,,,, 8446,gingival_fibromatosis_2,,,,,,,, 8447,gingival_fibromatosis_3,,,,,,,, 8448,gingival_fibromatosis_4,,,,,,,, 8449,glass_chapman_hockley_syndrome,,,,,,,, 8450,glassy_cell_carcinoma_of_the_cervix,glassy_cell_carcinoma_of_the_cervix,,,,,,, 8451,glaucoma_3_primary_infantile_b,,,,,,,, 8452,glaucoma_iridogoniodysgenesia,,,,,,,, 8453,glaucoma_sleep_apnea,,,,,,,, 8454,glaucoma_type_1c,,,,,,,, 8455,glaucoma_congenital,,,,,,,, 8456,glaucoma_ectopia_microspherophakia_stiff_joints_and_short_stature_syndrome,,,,,,,, 8457,glaucoma_hereditary,,,,,,,, 8458,glaucoma_hereditary_adult_type_1a,,,,,,,, 8459,glaucoma_hereditary_juvenile_type_1b,,,,,,,, 8460,glaucoma_primary_infantile_type_3a,,,,,,,, 8461,global_disaccharide_intolerance,,,,,,,, 8462,glomerulonephritis_with_sparse_hair_and_telangiectases,,,,,,,, 8463,glomerulopathy_with_fibronectin_deposits_1,,,,,,,, 8464,glomerulopathy_with_fibronectin_deposits_2,,,,,,,N07.6, 8465,glomus_jugulare_tumors,,,,,,,, 8466,glomus_tympanicum_tumor,,,,,,,, 8467,glomus_vagale_tumors,,,,,,,, 8468,glossodynia,glossodynia,,,,K14.6,,, 8469,glossopalatine_ankylosis_micrognathia_ear_anomalies,,,,,,,, 8470,glucagonoma,glucagonoma,,,,,D005935,D13.7,302823005|128855009|16424000 8471,glucocorticoid_resistance,,,,,,,E25.8, 8472,glucose_6_phosphate_translocase_deficiency,,,,,,,, 8473,glucose_galactose_malabsorption_2,glucose-galactose_malabsorption,,,,,,E74.3,190749000 8474,glucosephosphate_isomerase_deficiency,glucosephosphate_isomerase,,,,,,, 8475,glucosidase_acid_14_alpha_deficiency,,,,,,,, 8476,glutamate_decarboxylase_deficiency,,,,,,,, 8477,glutamate_formiminotransferase_deficiency,glutamate_formiminotransferase,,,,,,D52.8, 8478,glutamine_deficiency_congenital,,,,,,,E72.8, 8479,glutaric_acidemia_type_i,,,,,,C536833,E72.3,360416003|76175005 8480,glutaric_acidemia_type_ii,,,,,,,, 8481,glutathione_synthetase_deficiency,glutathione_synthetase_deficiency,,,,,,D55.1, 8482,glutathionuria,glutathionuria,,,,,,E72.8, 8483,glyceraldehyde_3_phosphate_dehydrogenase_deficiency,,,,,,,, 8484,glycine_n_methyltransferase_deficiency,,,,,,,E72.1, 8485,glycogen_storage_disease_type_0,glycogen_storage_disease_type_0,,,,,,E74.0, 8486,glycogen_storage_disease_type_0_muscle,,,,,,,E74.0, 8487,glycogen_storage_disease_type_12,,,,,E74.0,,E74.0,111578003 8488,glycogen_storage_disease_type_13,,,,,,,E74.0, 8489,glycogen_storage_disease_type_14,,,,,,,, 8490,glycogen_storage_disease_type_1a,,,,,,,, 8491,glycogen_storage_disease_type_1b,glycogen_storage_disease_type_1b,,,,,,, 8492,glycogen_storage_disease_type_6_due_to_phosphorylation,,,,,,,, 8493,glycoproteinosis,glycoproteinosis,,,,,,, 8494,glycosylphosphatidylinositol_deficiency,,,,,,,E88.8, 8495,gm1_gangliosidosis_type_1,,,,,,D016537,E75.1,32917001|238025006|238026007 8496,gm1_gangliosidosis_type_2,,,,,,,E75.1, 8497,gm1_gangliosidosis_type_3,,,,,,,E75.1, 8498,gm2_gangliosidosis_0_variant,,,,,,,, 8499,gm2_gangliosidosis_b_b1_ab_variant,,,,,,,, 8500,gms_syndrome,gms_syndrome,,,,,,, 8501,gnathostoma_infection,,,,,,,, 8502,goblet_cell_carcinoma,crypt_cell_carcinoma,,,,,,, 8503,goldberg_shprintzen_megacolon_syndrome,,,,,,C537328|C537279,Q87.8, 8504,goldmann_favre_syndrome,,,,,,,H35.5,232065000 8505,gollop_coates_syndrome,,,,,,,, 8506,gombo_syndrome,,,,,,,, 8507,gomez_lopez_hernandez_syndrome,,,,,,,, 8508,gonadal_dysgenesis_xy_type_associated_anomalies,,,,,,,Q99.1, 8509,gonadal_dysgenesis_xx_type,,,,,,,Q87.8, 8510,goniodysgenesis_mental_retardation_short_stature,,,,,,,, 8511,goodman_syndrome,,,,,,,Q87.0, 8512,gorlin_bushkell_jensen_syndrome,,,,,,,, 8513,gorlin_chaudhry_moss_syndrome,,,,,,C537290,Q87.0,205800003 8514,gracile_bone_dysplasia,,,,,,,Q78.0, 8515,gracile_syndrome,,,,,,C537934,, 8516,graham_boyle_troxell_syndrome,,,,,,,Q85.8, 8517,grand_kaine_fulling_syndrome,,,,,,,, 8518,grant_syndrome,,,,,,C537293,Q87.5, 8519,granulocytopenia,granulocytopenia,,,,,,, 8520,granulomas_congenital_cerebral,,,,,,,, 8521,granulomatous_hypophysitis,,,,,,,, 8522,granulomatous_rosacea,granulomatous_rosacea,,,,,,, 8523,granulomatous_slack_skin_disease,granulomatous_slack_skin,,,,,,C84.0,277796003 8524,granulosa_cell_tumor_of_the_ovary,,,,,,,, 8525,graphite_pneumoconiosis,,,,,,,, 8526,gray_platelet_syndrome,gray_platelet_syndrome,,,,,D055652,D69.1,51720005 8527,green_sandford_davison_syndrome,,,,,,,, 8528,griscelli_syndrome,griscelli_syndrome,,,,,,, 8529,griscelli_syndrome_type_1,griscelli_syndrome_type_1,,,,,C537301,E70.3, 8530,griscelli_syndrome_type_2,griscelli_syndrome_type_2,,,,,C537302,E70.3, 8531,griscelli_syndrome_type_3,griscelli_syndrome_type_3,,,,,C537303,E70.3, 8532,grix_blankenship_peterson_syndrome,,,,,,,Q87.5, 8533,groenouw_type_i_corneal_dystrophy,,,,,,,H18.5, 8534,groll_hirschowitz_syndrome,,,,,,,, 8535,group_b_strep_disease_in_newborns,,,,,,,, 8536,growth_and_mental_retardation_mandibulofacial_dysostosis_microcephaly_and_cleft_palate,,,,,,,, 8537,growth_deficiency_brachydactyly_unusual_facies,,,,,,,, 8538,growth_hormone_deficiency,growth_hormone_deficiency,,,,,,, 8539,growth_hormone_insensitivity_with_immunodeficiency,,,,,,,D82.8|E34.3, 8540,growth_retardation_alopecia_pseudoanodontia_optic,,,,,,,, 8541,growth_retardation_hydrocephaly_lung_hypoplasia,,,,,,,, 8542,growth_retardation_mental_retardation_phalangeal_hypoplasia,,,,,,,, 8543,grubben_de_cock_borghgraef_syndrome,,,,,,C537621,, 8544,gtp_cyclohydrolase_i_deficiency,,,,,,,, 8545,guanidinoacetate_methyltransferase_deficiency,guanidinoacetate_methyltransferase_deficiency,,,,,C537622,E72.8,124239003 8546,guizar_vasquez_sanchez_manzano_syndrome,,,,,,,, 8547,gupta_patton_syndrome,,,,,,,, 8548,gurrieri_syndrome,,,,,,,, 8549,guttate_psoriasis,guttate_psoriasis,,,,L40.4,,, 8550,gynandroblastoma,gynandroblastoma,,,,,,C56,26735007 8551,haim_munk_syndrome,,,,,,C537627,Q82.8, 8552,hair_defect_with_photosensitivity_and_mental_retardation,,,,,,,, 8553,hair_an_syndrome,,,,,,,, 8554,hairy_elbows,hairy_elbow_syndrome,,,,,,, 8555,hairy_nose_tip,,,,,,,, 8556,hairy_palms_and_soles,hairy_palms_and_soles,,,,,,, 8557,halal_setton_wang_syndrome,,,,,,,Q82.8, 8558,halal_syndrome,halal_syndrome,,,,,,, 8559,hall_riggs_mental_retardation_syndrome,,,,,,,, 8560,halo_nevi,halo_nevi,,,,,,, 8561,hamanishi_ueba_tsuji_syndrome,,,,,,,, 8562,hand_and_foot_deformity_with_flat_facies,,,,,,,Q87.8, 8563,hand_foot_uterus_syndrome_2,,,,,,,Q51.2, 8564,handigodu_disease,handigodu_syndrome,,,,,,, 8565,hanhart_syndrome,hanhart_syndrome,,,,,,, 8566,hansens_disease,,,,,,,, 8567,hard_skin_syndrome_parana_type,,,,,,,, 8568,hardikar_syndrome,,,,,,,, 8569,harding_ataxia,harding_ataxia,,,,,C535633,G11.1, 8570,harlequin_syndrome,harlequin_syndrome,,,,,C535634,G90.8, 8571,harrod_doman_keele_syndrome,,,,,,,Q87.0, 8572,hashimotos_encephalitis,,,,,,,G04.8, 8573,hashimoto_pritzker_syndrome,,,,,,C535843,D76.0,404160007 8574,hawkinsinuria,hawkinsinuria,,,,,D015211|C535845,Q87.8|E70.2,88469006|414380008 8575,heart_defect_tongue_hamartoma_and_polysyndactyly,,,,,,C535849,Q87.8, 8576,heart_tumor,heart_tumor,,,,,,, 8577,heart_hand_syndrome_slovenian_type,,,,,,C535852,Q87.2, 8578,heart_hand_syndromespanish_type,,,,,,,, 8579,heavy_metal_poisoning,heavy_metal_poisoning,,,,,,, 8580,hec_syndrome,hec_syndrome,,,,,,Q87.8, 8581,heinz_body_anemias,,,,,,,, 8582,helminthiasis,helminthiasis,,,,B83.9,,, 8583,hemangioendothelioma,hemangioendothelioma,,,,,,, 8584,hemangioma_thrombocytopenia_syndrome,hemangioma_thrombocytopenia_syndrome,,,,,,D18.0,86635005 8585,hemangiomatosis_familial_pulmonary_capillary,,,,,,,, 8586,hemeralopia_congenital_essential,,,,,,,, 8587,hemeralopia_familial,,,,,,,, 8588,hemi_3_syndrome,,,,,,,, 8589,hemicrania_continua,hemicrania_continua,,,,,,, 8590,hemifacial_atrophy_agenesis_of_the_caudate_nucleus,,,,,,,, 8591,hemifacial_hyperplasia_strabismus,,,,,,,Q67.4, 8592,hemifacial_myohyperplasia,,,,,,C535862,Q67.4, 8593,hemihypertrophy_intestinal_web_corneal_opacity,,,,,,,Q87.3, 8594,hemimegalencephaly,hemimegalencephaly,,,,,,Q04.5,253170008 8595,hemiplegic_migraine,hemiplegic_migraine,,,,,,, 8596,hemochromatosis_type_1,hemochromatosis_type_1,,,,,,, 8597,hemochromatosis_type_4,,,,,,C537249,E83.1, 8598,hemoglobin_sickle_beta_thalassemia,,,,,,,, 8599,hemoglobin_zurich,,,,,,,, 8600,hemoglobinemia,hemoglobinemia,,,,,,, 8601,hemolytic_anemia_lethal_congenital_nonspherocytic_with_genital_and_other_abnormalities,,,,,,,, 8602,hemolytic_uremic_syndrome_atypical_childhood,,,,,,,, 8603,hemophagocytic_lymphohistiocytosis_familial_2,,,,,,,, 8604,hemophagocytic_lymphohistiocytosis_familial_3,,,,,,,, 8605,hemophagocytic_lymphohistiocytosis_familial_4,,,,,,,D76.1,398250003 8606,hemophagocytic_reticulosis,hemophagocytic_reticulosis,,,,,,, 8607,hemophilia_a_acquired,,,,,,,, 8608,hemophilia_a_congenital,,,,,,,, 8609,hemophilic_arthropathy,hemophilic_arthropathy,,,,,,, 8610,hemorrhagic_fever,hemorrhagic_fever,,,,A98.5,,, 8611,hemorrhagic_proctocolitis,hemorrhagic_proctocolitis,,,,,,, 8612,hemorrhagic_shock_and_encephalopathy_syndrome,,,,,,,, 8613,hennekam_syndrome,hennekam_syndrome,,,,,,Q87.8, 8614,hennekam_van_der_horst_syndrome,,,,,,,, 8615,hepadnavirus_infection,,,,,,,, 8616,heparane_sulfamidase_deficiency,,,,,,,, 8617,heparin_induced_thrombocytopenia,heparin-induced_thrombocytopenia,,,,,,D69.5,73397007 8618,hepatic_cystic_hamartoma,,,,,,,, 8619,hepatic_fibrosis_renal_cysts_mental_retardation,,,,,K74.0|K74.2,,, 8620,hepatocellular_carcinoma_childhood,,,,,,,, 8621,hereditary_amyloidosis,hereditary_amyloidosis,,,,,,, 8622,hereditary_angiopathy_with_nephropathy_aneurysms_and_muscle_cramps_syndrome,,,,,,,H35.0|R31, 8623,hereditary_cerebellar_ataxia_syndrome_of_early_onset,,,,,,,, 8624,hereditary_cerebral_hemorrhage_with_amyloidosis,,,,,,,, 8625,hereditary_congenital_facial_paresis,,,,,,,, 8626,hereditary_diffuse_leukoencephalopathy_with_spheroids,hereditary_diffuse_leukoencephalopathy_with_spheroids,,,,,,, 8627,hereditary_endotheliopathy_retinopathy_nephropathy_and_stroke,,,,,,,, 8628,hereditary_hemorrhagic_telangiectasia_type_2,,,,,,,, 8629,hereditary_hemorrhagic_telangiectasia_type_3,,,,,,,, 8630,hereditary_hemorrhagic_telangiectasia_type_4,,,,,,,, 8631,hereditary_hyperuricemia,,,,,,,, 8632,hereditary_koilonychia,,,,,,,, 8633,hereditary_lymphedema_type_ii,,,,,,,, 8634,hereditary_methemoglobinemia_recessive,,,,,,,, 8635,hereditary_mucoepithelial_dysplasia,hereditary_mucoepithelial_dysplasia,,,,,,,403442005 8636,hereditary_myopathy_with_intranuclear_filamentous,,,,,,,, 8637,hereditary_neuropathy_with_liability_to_pressure_palsy,hereditary_neuropathy_with_liability_to_pressure_palsy,,,,,,, 8638,hereditary_nodular_heterotopia,,,,,,,, 8639,hereditary_orotic_aciduria_without_megaloblastic_anaemia,,,,,,,, 8640,hereditary_pancreatitis,hereditary_pancreatitis,,,,,,, 8641,hereditary_paroxysmal_cerebral_ataxia,,,,,,,, 8642,hereditary_peripheral_nervous_disorder,hereditary_peripheral_nervous_disorder,,,,,,, 8643,hereditary_primary_fanconi_disease,,,,,,,, 8644,hereditary_resistance_to_anti_vitamin_k,,,,,,,, 8645,hereditary_sensorimotor_neuropathy_with_hyperelastic_skin,,,,,,,G60.0, 8646,hereditary_type_1_neuropathy,,,,,,,, 8647,hereditary_type_2_neuropathy,,,,,,,, 8648,hereditary_vascular_retinopathy,,,,,,,, 8649,hermansky_pudlak_syndrome_2,,,,,,,E70.3, 8650,herpes_simiae_b_virus,,,,,,,, 8651,herpes_simplex_encephalitis,herpes_simplex_encephalitis,,,,,,, 8652,herpes_virus_antenatal_infection,herpes_virus_antenatal_infection,,,,,,, 8653,herpes_zoster_ophthalmicus,,,,,,,, 8654,herpesvirus_simiae_b_virus,,,,,,,, 8655,herpetic_embryopathy,,,,,,,, 8656,herpetic_keratitis,herpetic_keratitis,,,,,,, 8657,herrmann_opitz_arthrogryposis_syndrome,,,,,,,, 8658,herrmann_opitz_craniosynostosis,,,,,,,Q75.0, 8659,herrmann_syndrome,,,,,,,, 8660,hersh_podruch_weisskopk_syndrome,,,,,,,Q86.8, 8661,heterochromia_iridis,heterochromia_iridis,,,,,,, 8662,heterotaxy,heterotaxy,,,,,,, 8663,hhv_6_encephalitis,,,,,,,, 8664,hidradenocarcinoma,hidradenocarcinoma,,,,,,, 8665,high_molecular_weight_kininogen_deficiency_2,,,,,,,, 8666,hillig_syndrome,,,,,,,, 8667,hing_torack_dowston_syndrome,,,,,,,, 8668,hip_luxation,hip_luxation,,,,,,, 8669,hip_subluxation,,,,,,,, 8670,hirschsprung_disease_ganglioneuroblastoma,,,,,,C538119,Q43.1, 8671,hirschsprung_disease_polydactyly_heart_disease,,,,,,,, 8672,hirschsprung_disease_type_2,,,,,,,, 8673,hirschsprung_disease_type_3,,,,,,D006627,Q43.1,204739008|360436002 8674,hirschsprung_disease_type_d_brachydactyly,,,,,,C538319,Q43.1, 8675,hirschsprung_microcephaly_cleft_palate,,,,,,,, 8676,hirschsprung_nail_hypoplasia_dysmorphism,,,,,,,Q43.1, 8677,hirsutism_skeletal_dysplasia_mental_retardation,,,,,,,, 8678,his_bundle_tachycardia,his_bundle_tachycardia,,,,,,I47.2,233901002 8679,histidinuria_renal_tubular_defect,,,,,,C538321,, 8680,histiocytosis_with_joint_contractures_and_sensorineural_deafness,,,,,,,D76.3, 8681,hittner_hirsch_kreh_syndrome,,,,,,,, 8682,hmg_coa_lyase_deficiency_2,,,,,,,E71.1,410059004 8683,hmg_coa_synthetase_deficiency,,,,,,,, 8684,ho_kaufman_mcalister_syndrome,,,,,,,, 8685,hodgkin_disease_x_linked_pseudoautosomal,,,,,,,, 8686,hodgkin_lymphoma_childhood,,,,,,,, 8687,hodgkin_lymphoma_during_pregnancy,,,,,,,, 8688,holmes_borden_syndrome,,,,,,,, 8689,holoacardius_amorphus,,,,,,,,41049003 8690,holoprosencephaly_caudal_dysgenesis,,,,,,,Q04.2, 8691,holoprosencephaly_ectrodactyly_cleft_lip_palate,,,,,,,, 8692,holoprosencephaly_recurrent_infections_and_monocytosis,,,,,,,, 8693,holzgreve_syndrome,,,,,,,, 8694,homocysteinemia,homocysteinemia,,,,,,, 8695,homocysteinemia_due_to_mthfr_deficiency,,,,,,,, 8696,homocystinuria_due_to_cbs_deficiency,,,,,,,, 8697,homocystinuria_due_to_defect_in_methylation_cbl_e,,,,,,,, 8698,homocystinuria_due_to_defect_in_methylation_cbl_g,,,,,,,, 8699,homologous_wasting_disease,,,,,,,, 8700,hooft_disease,,,,,,,, 8701,hoon_hall_syndrome,,,,,,,, 8702,hordnes_engebretsen_knudtson_syndrome,,,,,,,, 8703,horseshoe_kidney,horseshoe_kidney,,,,,,, 8704,houlston_ironton_temple_syndrome,,,,,,,, 8705,htlv_1_associated_myelopathy_tropical_spastic_paraparesis,,,,,,,, 8706,human_spumaretrovirus_infection,,,,,,,, 8707,human_t_cell_leukemia_virus_type_1,,,,,,,, 8708,human_t_cell_leukemia_virus_type_2,,,,,,,, 8709,human_t_cell_leukemia_virus_type_3,,,,,,,, 8710,humeroradial_synostosis,,,,,,,, 8711,humeroradioulnar_synostosis,,,,,,,Q74.0, 8712,hunter_carpenter_macdonald_syndrome,,,,,,,, 8713,hunter_macpherson_syndrome,,,,,,,, 8714,hunter_mcdonald_syndrome,,,,,,,, 8715,hunter_rudd_hoffmann_syndrome,,,,,,,, 8716,hunter_mcalpine_syndrome,,,,,,C536072,Q87.0, 8717,hurst_hallam_hockey_syndrome,,,,,,,, 8718,hutchinson_incisors,hutchinson_incisors,,,,,,, 8719,hutterite_cerebroosteonephrodysplasia_syndrome,,,,,,,, 8720,hyalinosis_systemic_short_stature,,,,,,,, 8721,hyde_forster_mccarthy_berry_syndrome,,,,,,,, 8722,hydroa_vacciniforme,hydroa_vacciniforme,,,,,,L56.4, 8723,hydroa_vacciniforme_familial,,,,,,,, 8724,hydrocephalus_autosomal_recessive,,,,,,,, 8725,hydrocephalus_craniosynostosis_bifid_nose,,,,,,,, 8726,hydrocephalus_due_to_congenital_stenosis_of_aqueduct_of_sylvius,,,,,,,, 8727,hydrocephalus_growth_retardation_skeletal_anomalies,,,,,,,, 8728,hydrocephalus_obesity_hypogonadism,,,,,,,, 8729,hydrocephalus_skeletal_anomalies,,,,,,,, 8730,hydrocephalus_costovertebral_dysplasia_and_sprengel_anomaly,,,,,,,Q87.8, 8731,hydrocephaly_corpus_callosum_agenesis_diaphragmatic_hernia,,,,,,,, 8732,hydrolethalus_syndrome,hydrolethalus_syndrome,,,,,C536079,Q87.8, 8733,hydronephrosis_peculiar_facial_expression,,,,,,,, 8734,hydrops_ectrodactyly_syndactyly,,,,,,,, 8735,hydrops_fetalis,hydrops_fetalis,,,,P56|P56.0|P56.9,D015160|C531708,P56|P83.2,276508000|206538000 8736,hydrops_fetalis_anemia_immune_disorder_absent_thumb,,,,,,,, 8737,hydrops_ectopic_calcification_moth_eaten_skeletal_dysplasia,hydrops-ectopic_calcification-moth-eaten_skeletal_dysplasia,,,,,C537299,Q77.3,389261002 8738,hydroxycarboxylic_aciduria,,,,,,,, 8739,hydroxykynureninuria,,,,,,,, 8740,hydroxyprolinemia,,,,,,,, 8741,hygroma_cervical,hygroma_cervical,,,,,,, 8742,hyper_ige_syndrome_2,,,,,,,D82.4, 8743,hyper_igd_syndrome,,,,,,,E88.8, 8744,hyper_reninism,hyper-reninism,,,,,,, 8745,hyperacusis,hyperacusis,,,,,,, 8746,hyperbetaalaninemia,,,,,,,E79.8, 8747,hyperbilirubinemia_transient_familial_neonatal,,,,,,,, 8748,hypercalcinuria_macular_coloboma,,,,,,,, 8749,hypercholesterolemia_autosomal_dominant,,,,,,,, 8750,hypereosinophilic_syndrome,hypereosinophilic_syndrome,,,,,D017681,D47.5,128835008 8751,hyperferritinemia_cataract_syndrome_2,,,,,,C538137,H26.0, 8752,hyperglycerolemia,hyperglycerolemia,,,,,C538138,E74.8, 8753,hyperglycinemia_isolated_nonketotic,,,,,,,, 8754,hyperglycinemia_isolated_nonketotic_type_1,,,,,,,, 8755,hyperglycinemia_isolated_nonketotic_type_2,,,,,,,, 8756,hypergonadotropic_ovarian_failure_familial_or_sporadic,,,,,E28|E28.3|E28.9,,, 8757,hyperinsulinemic_hypoglycemia_familial_2,,,,,,,E16.1, 8758,hyperinsulinemic_hypoglycemia_familial_3,,,,,,,E16.1, 8759,hyperinsulinism_due_to_glucokinase_deficiency,,,,,,,, 8760,hyperinsulinism_due_to_glutamodehydrogenase_deficiency,,,,,,,, 8761,hyperinsulinism_diffuse,,,,,,,, 8762,hyperinsulinism_focal,,,,,,,, 8763,hyperinsulinism_hyperammonemia_syndrome,,,,,,,E72.8, 8764,hyperkeratosis_lenticularis_perstans,,,,,,C538377,,28488007 8765,hyperkeratosis_palmoplantar_localized_acanthokeratolytic,,,,,,,, 8766,hyperkeratosis_palmoplantar_localized_epidermolytic,,,,,,,, 8767,hyperlipidemia_type_3,,,,,,D006952,E78.2,398796005 8768,hyperlipoproteinemia_type_2,hyperlipoproteinemia_type_2,,,,,,, 8769,hypermanganesemia_with_dystonia_polycythemia_and_cirrhosis,,,,,,,, 8770,hyperostosis_corticalis_generalisata,hyperostosis_corticalis_generalisata,,,,,,, 8771,hyperostosis_corticalis_generalisata_benign_form_of_worth_with_torus_palatinus,,,,,,,, 8772,hyperostosis_hyperphosphatemia_syndrome,,,,,,,, 8773,hyperparathyroidism_neonatal_severe_primary,,,,,,,, 8774,hyperparathyroidism_jaw_tumor_syndrome,,,,,,,E21.0, 8775,hyperphenilalaninemia_due_to_pterin_4_alpha_carbin,,,,,,,, 8776,hyperphenylalaninemia_due_to_dehydratase_deficiency,,,,,,,E70.1, 8777,hyperphosphatemic_familial_tumoral_calcinosis,,,,,,,M11.2,61778004 8778,hyperpipecolatemia,hyperpipecolatemia,,,,,D018901,E72.3,13306007|88469006 8779,hyperprolinemia,hyperprolinemia,,,,,,E72.5, 8780,hyperprolinemia_type_2,,,,,,C538385,E72.5,124177001 8781,hypersomnolence_idiopathic,,,,,,,F51.1, 8782,hypertelorism_and_tetralogy_of_fallot,,,,,,,, 8783,hypertensive_hypokalemia_familial,,,,,,,, 8784,hyperthermia_induced_defects,,,,,,,, 8785,hypertrichosis_congenital_generalized_x_linked,,,,,,,Q84.2, 8786,hypertrichosis_lanuginosa_congenita,,,,,,C538389,Q84.2,201163007|403799003 8787,hypertrichosis_lanuginosa_acquired,,,,,L68.1,,L68.1,25967007 8788,hypertrichosis_anterior_cervical,,,,,,,, 8789,hypertrichosis_hyperkeratosis_mental_retardation_and_distinctive_facial_features,,,,,,,, 8790,hypertrophic_branchial_myopathy,,,,,,,, 8791,hypertrophic_hemangiectasia,,,,,,,, 8792,hypertrophic_neuropathy_of_dejerine_sottas,,,,,,,, 8793,hypertryptophanemia,hypertryptophanemia,,,,,C538393,E70.8, 8794,hypnic_headache,hypnic_headache,,,,,,G44.8, 8795,hypoadrenalism,hypoadrenalism,,,,,,, 8796,hypoaldosteronism,hypoaldosteronism,,,,,,, 8797,hypobetalipoproteinaemia_ataxia_hearing_loss,,,,,,,, 8798,hypocalcemia_autosomal_dominant,,,,,,C537156,E20.8|Q89.2, 8799,hypocomplementemic_urticarial_vasculitis_syndrome,,,,,,,M31.8, 8800,hypodermyasis,hypodermyasis,,,,,,, 8801,hypodontia_of_incisors_and_premolars,,,,,,,, 8802,hypodontia_x_linked,,,,,,,, 8803,hypofibrinogenemia_familial,,,,,,,, 8804,hypoglycemia_with_deficiency_of_glycogen_synthetase_in_the_liver,,,,,E16.2,,, 8805,hypogonadism_cardiomyopathy,,,,,,,, 8806,hypogonadism_male_mental_retardation_skeletal_anomaly,,,,,,,, 8807,hypogonadism_mitral_valve_prolapse_mental_retardation,,,,,,,, 8808,hypogonadism_primary_partial_alopecia,,,,,,,, 8809,hypogonadism_alopecia_diabetes_mellitus_mental_retardation_and_extrapyramidal_syndrome,,,,,,C536742,,237616002 8810,hypogonadotropic_hypogonadism_without_anosmia_x_linked,,,,,,,, 8811,hypohidrotic_ectodermal_dysplasia_autosomal_dominant,,,,,,,, 8812,hypohidrotic_ectodermal_dysplasia_autosomal_recessive,,,,,,D053360,Q82.4,27025001 8813,hypohidrotic_ectodermal_dysplasia_with_hypothyroidism_and_ciliary_dyskinesia,,,,,,,, 8814,hypohidrotic_ectodermal_dysplasia_with_immune_deficiency,,,,,,,Q82.4|D82.8, 8815,hypoketonemic_hypoglycemia,,,,,,,, 8816,hypomagnesemia_2_renal,,,,,,,E83.4, 8817,hypomagnesemia_primary,,,,,,,, 8818,hypomandibular_faciocranial_dysostosis,,,,,,C537154,Q75.4, 8819,hypomelanotic_disorder,hypomelanotic_disorder,,,,,,, 8820,hypomelia_mullerian_duct_anomalies,,,,,,,, 8821,hypomyelination_with_atrophy_of_basal_ganglia_and_cerebellum,,,,,,,E75.2, 8822,hypoparathyroidism_familial_isolated,,,,,,,, 8823,hypoparathyroidism_short_stature_mental_retardation,,,,,,,, 8824,hypoparathyroidism_x_linked,,,,,,,, 8825,hypoparathyroidism_retardation_dysmorphism_syndrome,,,,,E20|E20.9,,Q87.1, 8826,hypopituitarism_micropenis_cleft_lip_palate,,,,,,,, 8827,hypopituitarism_postaxial_polydactyly,,,,,,,, 8828,hypoplasia_of_the_tibia_with_polydactyly,,,,,,,, 8829,hypoplastic_right_heart_syndrome,hypoplastic_right_heart_syndrome,,,,Q22.6,,, 8830,hypoplastic_thumb_mullerian_aplasia,,,,,,,, 8831,hypoplastic_thumbs_hydranencephaly,,,,,,,, 8832,hyporeninemic_hypoaldosteronism,hyporeninemic_hypoaldosteronism,,,,,,, 8833,hyposmia_nasal_hypoplasia_hypogonadism,,,,,,,, 8834,hypospadias_familial,,,,,,,, 8835,hypospadias_mental_retardation_goldblatt_type,,,,,,,Q87.8, 8836,hypotelorism_cleft_palate_hypospadias,,,,,,,, 8837,hypothalamic_hamartomas,hypothalamic_hamartoma,,,,,,, 8838,hypothyroidism_due_to_iodide_transport_defect,,,,,,,, 8839,hypothyroidism_postaxial_polydactyly_mental_retardation,,,,,,,, 8840,hypotonia_congenital_nystagmus_ataxia_and_abnormal_auditory_brainstem_response,,,,,,,, 8841,hypotonic_sclerotic_muscular_dystrophy,,,,,,,, 8842,hypotrichosis_simplex,,,,,,,, 8843,ichthyosiform_erythroderma_corneal_involvement_deafness,,,,,,,, 8844,ichthyosis_alopecia_eclabion_ectropion_mental_retardation,,,,,,,, 8845,ichthyosis_and_male_hypogonadism,,,,,,C535878|C537365,,2355008 8846,ichthyosis_bullosa_of_siemens,,,,,,D053560,Q80.8,254169002 8847,ichthyosis_cheek_eyebrow_syndrome,,,,,,C536084,, 8848,ichthyosis_congenita_biliary_atresia,,,,,,,, 8849,ichthyosis_deafness_mental_retardation_skeletal_anomaly,,,,,,,, 8850,ichthyosis_follicularis_atrichia_photophobia_syndrome,ichthyosis_follicularis_atrichia_photophobia_syndrome,,,,,C536085,Q87.8, 8851,ichthyosis_hystrix_gravior,,,,,,C536087,Q80.0, 8852,ichthyosis_hystrix_curth_macklin_type,,,,,,C536088,Q80.8,254170001 8853,ichthyosis_lamellar_1,,,,,,,, 8854,ichthyosis_lamellar_2,,,,,,,, 8855,ichthyosis_lamellar_3,,,,,,,, 8856,ichthyosis_lamellar_autosomal_dominant,,,,,,,, 8857,ichthyosis_linearis_circumflexa,ichthyosis_linearis_circumflexa,,,,,,, 8858,ichthyosis_mental_retardation_dwarfism_renal_impairment,,,,,,C536274,, 8859,ichthyosis_prematurity_syndrome,ichthyosis_prematurity_syndrome,,,,,C536271,, 8860,ichthyosis_tapered_fingers_midline_groove_up,,,,,,,, 8861,ichthyosis_with_hypotrichosis_autosomal_recessive,,,,,,,, 8862,ichthyosis_acquired,acquired_ichthyosis,,,,L85.0,,L85.0, 8863,ichthyosis_erythrokeratolysis_hemalis,,,,,,,, 8864,ichthyosis_follicular,,,,,,,, 8865,ichthyosis_leukocyte_vacuoles_alopecia_and_sclerosing_cholangitis,,,,,,,, 8866,ichthyosis_mental_retardation_syndrome_with_large_keratohyalin_granules_in_the_skin,,,,,,,, 8867,idiopathic_acute_eosinophilic_pneumonia,,,,,,,J82, 8868,idiopathic_adolescent_scoliosis,,,,,,,, 8869,idiopathic_alveolar_hypoventilation_syndrome,,,,,,,, 8870,idiopathic_basal_ganglia_calcification_childhood_onset,,,,,,,, 8871,idiopathic_diffuse_interstitial_fibrosis,,,,,,,, 8872,idiopathic_dilatation_of_the_pulmonary_artery,,,,,,,E25.7, 8873,idiopathic_double_athetosis,,,,,,,, 8874,idiopathic_edema,,,,,,,, 8875,idiopathic_juxtafoveal_retinal_telangiectasia,,,,,,,, 8876,idiopathic_myopathy,,,,,,,, 8877,idiopathic_spinal_cord_herniation,,,,,,,, 8878,idiopathic_subglottic_tracheal_stenosis,,,,,,,, 8879,iida_kannari_syndrome,,,,,,,, 8880,il12rb1_deficiency,,,,,,,, 8881,illum_syndrome,illum_syndrome,,,,,,, 8882,imaizumi_kuroki_syndrome,,,,,,,, 8883,imerslund_grasbeck_syndrome,,,,,,,, 8884,iminoglycinuria,iminoglycinuria,,,,,,, 8885,immotile_cilia_syndrome_due_to_defective_radial_spokes,,,,,,,, 8886,immune_defect_due_to_absence_of_thymus,,,,,,,, 8887,immune_deficiency_familial_variable,,,,,,,, 8888,immune_dysfunction_with_t_cell_inactivation_due_to_calcium_entry_defect_1,,,,,,,D81.8, 8889,immune_dysfunction_with_t_cell_inactivation_due_to_calcium_entry_defect_2,,,,,,,D81.8, 8890,immunodeficiency_with_hyper_igm_type_1,,,,,,,D80.5, 8891,immunodeficiency_with_hyper_igm_type_2,,,,,,,D80.5, 8892,immunodeficiency_with_hyper_igm_type_4,,,,,,,D80.5, 8893,immunodeficiency_with_hyper_igm_type_5,,,,,,,, 8894,immunodeficiency_without_anhidrotic_ectodermal_dysplasia,,,,,,,, 8895,immunodysregulation_polyendocrinopathy_and_enteropathy_x_linked,,,,,,,E31.0, 8896,immunoglobulin_a_deficiency_2,,,,,,,D80.2,234552000 8897,immunoglobulin_g_deficiency,,,,,,,, 8898,impairment_of_oral_perception,,,,,,,, 8899,imperforate_oropharynx_costo_vetebral_anomalies,,,,,,,, 8900,inborn_amino_acid_metabolism_disorder,inborn_amino_acid_metabolism_disorder,,,,,,, 8901,inborn_renal_aminoaciduria,inborn_renal_aminoaciduria,,,,,,, 8902,inclusion_body_myopathy_2,,,,,,,, 8903,inclusion_body_myopathy_3,,,,,,,G71.8, 8904,inclusion_body_myopathy_with_early_onset_paget_disease_and_frontotemporal_dementia,,,,,,,G71.8, 8905,indolent_b_cell_lymphoma,,,,,,,, 8906,indomethacin_antenatal_infection,indomethacin_antenatal_infection,,,,,,, 8907,infant_epilepsy_with_migrant_focal_crisis,,,,,,,G40.4, 8908,infantile_apnea,,,,,,,P28.4,276544005 8909,infantile_axonal_neuropathy,,,,,,,G60.8, 8910,infantile_convulsions_and_paroxysmal_choreoathetosis_familial,,,,,,,G40.4, 8911,infantile_digital_fibromatosis,infantile_digital_fibromatosis,,,,,,M72.8,399903008 8912,infantile_free_sialic_acid_storage_disease,infantile_free_sialic_acid_storage_disease,,,,,C538523,E77.8,238051008|87074006 8913,infantile_histiocytoid_cardiomyopathy,,,,,,C535584,I42.0, 8914,infantile_myofibromatosis,infantile_myofibromatosis,,,,,,D21,254146000 8915,infantile_parkinsonism_dystonia,,,,,,,, 8916,infantile_recurrent_chronic_multifocal_osteomyolitis,,,,,,,, 8917,infantile_scoliosis,,,,,,,, 8918,infantile_spasms_broad_thumbs,,,,,,,, 8919,infantile_striato_thalamic_degeneration,,,,,,,G31.0, 8920,infectious_myocarditis,,,,,I41|I41.8|I51.4,,, 8921,inflammatory_linear_verrucous_epidermal_nevus,inflammatory_linear_verrucous_epidermal_nevus,,,,,,Q82.5,399995006 8922,inflammatory_myofibroblastic_tumor,inflammatory_myofibroblastic_tumor,,,,,,,116064009 8923,infundibulopelvic_dysgenesis,,,,,,,, 8924,inherited_bone_marrow_failure_syndromes,,,,,,,, 8925,inherited_hypoprothrombinemia,,,,,,,D68.2, 8926,inherited_peripheral_neuropathy,,,,,,,, 8927,iniencephaly,iniencephaly,,,,Q00.2,,Q00.2,2438005 8928,insulin_autoimmune_syndrome,,,,,,,, 8929,insulin_like_growth_factor_1_resistance_to,,,,,,,E34.3, 8930,insulin_like_growth_factor_i_deficiency,insulin-like_growth_factor_i,,,,,,, 8931,insulin_resistance_type_b,,,,,,,E11,237652003 8932,insulin_resistant_acanthosis_nigricans_type_a,,,,,,,, 8933,intellectual_deficit_short_stature_hypertelorism,,,,,,,Q87.8, 8934,intellectual_deficit_buenos_aires_type,,,,,,,Q87.8, 8935,intellectual_deficit_unusual_facies_talipes_hand_anomalies,,,,,,,, 8936,intercellular_cholesterol_esterification_disease,,,,,,,, 8937,interferon_gamma_receptor_1_deficiency,,,,,,,, 8938,intermediate_severe_salla_disease,,,,,,,E77.8, 8939,internal_carotid_agenesis,,,,,,,Q28.1, 8940,intervertebral_disc_disease,intervertebral_disc_degeneration,,,,M51.3,,, 8941,intestinal_pseudoobstruction_neuronal_chronic_idiopathic_x_linked,,,,,,,, 8942,intracranial_aneurysms_multiple_congenital_anomaly,,,,,,,, 8943,intracranial_arteriovenous_malformation,intracranial_arteriovenous_malformations,,,,,,, 8944,intrahepatic_cholestasis_of_pregnancy,intrahepatic_cholestasis_of_pregnancy,,,,,C535932,O26.6, 8945,intrathoracic_kidney_vertebral_fusion,,,,,,,, 8946,intrauterine_growth_retardation_mandibular_malar_hypoplasia,,,,,,,, 8947,intrauterine_growth_retardation_with_increased_mitomycin_c_sensitivity,,,,,,,, 8948,intrauterine_infections,intrauterine_infections,,,,,,, 8949,intravascular_papillary_endothelial_hyperplasia,intravascular_papillary_endothelial_hyperplasia,,,,,,, 8950,intrinsic_factor_deficiency,,,,,,,D51.0,234361004 8951,iodine_antenatal_infection,,,,,,,, 8952,irak4_deficiency,,,,,,,D84.8, 8953,iridocorneal_endothelial_syndrome,iridocorneal_endothelial_syndrome,,,,,D057129,H21.1,129623003|231936006 8954,iridogoniodysgenesis_and_skeletal_anomalies,,,,,,,, 8955,iridogoniodysgenesis_type1,,,,,,,, 8956,iridogoniodysgenesis_dominant_type,,,,,,,, 8957,iris_dysplasia_hypertelorism_deafness,,,,,,,, 8958,iris_hypoplasia_and_glaucoma,,,,,,,Q13.8,204152008 8959,iron_refractory_iron_deficiency_anemia,,,,,,,D50.8, 8960,irons_bhan_syndrome,,,,,,,, 8961,ischiadic_hypoplasia_renal_dysfunction_immunodeficiency,,,,,,,, 8962,isobutyryl_coa_dehydrogenase_deficiency,,,,,,C535541,E71.1,445274004 8963,isochromosome_yp,,,,,,,, 8964,isodicentric_chromosome_15_syndrome,,,,,,,Q99.8, 8965,isolated_acth_deficiency,,,,,,,, 8966,isolated_growth_hormone_deficiency_type_1a,,,,,,,E23.0, 8967,isolated_growth_hormone_deficiency_type_1b,,,,,,,E23.0, 8968,isolated_growth_hormone_deficiency_type_2,,,,,,,E23.0, 8969,isolated_growth_hormone_deficiency_type_3,,,,,,,, 8970,isosporiasis,isosporiasis,,,,A07.3,D021865,A07.3,371423007 8971,isotretinoin_embryopathy_like_syndrome,,,,,,,, 8972,isthmian_coarctation,,,,,,,, 8973,itch_e3_ubiquitin_ligase_deficiency,,,,,,,M32, 8974,ivemark_syndrome,ivemark_syndrome,,,,,,Q89.3,17604001 8975,ivic_syndrome,,,,,,,Q71.8, 8976,jacobsen_syndrome,jacobsen_syndrome,,,,,D054868,Q93.5,4325000 8977,jaffer_beighton_syndrome,,,,,,,, 8978,jamaican_vomiting_sickness,jamaican_vomiting_sickness,,,,,,, 8979,jankovic_rivera_syndrome,,,,,,,G25.3, 8980,jejunal_atresia,jejunal_atresia,,,,,,, 8981,jejunal_atresia_with_renal_adysplasia,,,,,,,, 8982,jensen_syndrome,,,,,,,H47.2|H90.3, 8983,jervell_and_lange_nielsen_syndrome_2,,,,,,D029593,I45.8,373905003 8984,jeune_syndrome_situs_inversus,,,,,,,, 8985,johnson_hall_krous_syndrome,,,,,,,, 8986,johnson_munson_syndrome,,,,,,,, 8987,johnson_neuroectodermal_syndrome,,,,,,C535882,Q87.8, 8988,johnston_aarons_schelley_syndrome,,,,,,,, 8989,joint_laxity_familial,,,,,,,Q79.6, 8990,jones_hersh_yusk_syndrome,,,,,,,, 8991,jones_syndrome,,,,,,,H90.3, 8992,jorgenson_lenz_syndrome,,,,,,,, 8993,joubert_syndrome_2,,,,,,,H35.5|Q04.3|Q61.5, 8994,joubert_syndrome_with_ocular_anomalies,,,,,,,H35.5|Q04.3, 8995,joubert_syndrome_with_oculorenal_anomalies,,,,,,,, 8996,joubert_syndrome_with_renal_anomalies,,,,,,,Q04.3|Q61.5, 8997,juberg_marsidi_syndrome_2,,,,,,,, 8998,juberg_hayward_syndrome,,,,,,C537690,Q87.0, 8999,judge_misch_wright_syndrome,,,,,,,, 9000,jumping_frenchmen_of_maine,,,,,,,, 9001,junctional_epidermolysis_bullosa_inversa,,,,,,,, 9002,junctional_epidermolysis_bullosa_herlitz_type,,,,,Q81.1,,Q81.1, 9003,junctional_epidermolysis_bullosa_non_herlitz_type,,,,,,,Q81.8, 9004,jung_wolff_back_stahl_syndrome,,,,,,C537694,, 9005,juvenile_huntington_disease,,,,,,,, 9006,juvenile_hyaline_fibromatosis,,,,,,D057770,M72.8,238861002|238867003 9007,juvenile_macular_degeneration_and_hypotrichosis,,,,,,,Q84.0, 9008,juvenile_scleroderma,,,,,,,, 9009,juvenile_temporal_arteritis,,,,,,,L95.8, 9010,juvenile_onset_dystonia,,,,,,,Q87.8, 9011,kallikrein_hypertension,,,,,,,, 9012,kallmann_syndrome_1,,,,,,,, 9013,kallmann_syndrome_2,,,,,,D017436,E23.0,93559003 9014,kallmann_syndrome_3,,,,,,,, 9015,kallmann_syndrome_4,,,,,,,E23.0, 9016,kallmann_syndrome_5,,,,,,,, 9017,kallmann_syndrome_6,,,,,,,, 9018,kanzaki_disease,kanzaki_disease,,,,,,E77.1, 9019,kaplan_plauchu_fitch_syndrome,,,,,,,Q87.0, 9020,kaplowitz_bodurtha_syndrome,,,,,,,, 9021,kaposiform_hemangioendothelioma,kaposiform_hemangioendothelioma,,,,,C537007,D18.0,403983000 9022,kapur_toriello_syndrome,,,,,,C537008,Q87.8, 9023,karak_syndrome,karak_syndrome,,,,,,, 9024,karandikar_maria_kamble_syndrome,,,,,,,, 9025,kartagener_syndrome,kartagener_syndrome,,,,,,, 9026,karyomegalic_interstitial_nephritis,,,,,,,, 9027,kashani_strom_utley_syndrome,,,,,,,, 9028,kasznica_carlson_coppedge_syndrome,,,,,,,, 9029,katsantoni_papadakou_lagoyanni_syndrome,,,,,,,, 9030,kaufman_oculocerebrofacial_syndrome,kaufman_oculocerebrofacial_syndrome,,,,,C537013,Q87.0, 9031,kennerknecht_vogel_syndrome,,,,,,,, 9032,kenny_caffey_syndrome_type_1,,,,,,,, 9033,kenny_caffey_syndrome_type_2,,,,,,,, 9034,keratitis_hereditary,,,,,,,, 9035,keratoconus_posticus_circumscriptus,,,,,,,, 9036,keratoderma_palmoplantar_deafness,,,,,,C536152,Q82.8, 9037,keratoderma_palmoplantar_spastic_paralysis,,,,,,C536153,, 9038,keratoderma_palmoplantaris_transgrediens,,,,,,,Q82.8, 9039,keratolytic_winter_erythema,keratolytic_winter_erythema,,,,,C536155,,239064000 9040,keratosis_focal_palmoplantar_gingival,focal_palmoplantar_and_gingival_keratosis,,,,,,, 9041,keratosis_follicularis_dwarfism_and_cerebral_atrophy,,,,,,C536158,Q87.1, 9042,keratosis_follicularis_spinulosa_decalvans,keratosis_follicularis_spinulosa_decalvans,,,,,C536159,Q82.8, 9043,keratosis_palmoplantaris_adenocarcinoma_of_the_colon,,,,,,,, 9044,keratosis_palmoplantaris_papulosa,,,,,,,Q82.8, 9045,keratosis_palmoplantaris_striata_1,keratosis_palmoplantaris_varians,,,,,,Q82.8, 9046,keratosis_palmoplantaris_striata_3,,,,,,,, 9047,kerion_celsi,,,,,B35.5,C536165,B35.0, 9048,keutel_syndrome,keutel_syndrome,,,,,C536167,Q87.8, 9049,kid_syndrome,,,,,,,Q80.8, 9050,kidney_cancer_childhood,,,,,,,, 9051,kienbocks_disease,,,,,,,M93.2,360466009|367356000 9052,kifafa_seizure_disorder,,,,,,,, 9053,kikuchi_disease,kikuchi_disease,,,,,,I88.1, 9054,kindler_syndrome,kindler_syndrome,,,,,C536321,Q81.8,238836000 9055,king_denborough_syndrome,,,,,,,, 9056,kingella_infections,,,,,,,, 9057,klebsiella,klebsiella,,,,,,, 9058,kleeblattschaedel_syndrome,,,,,,,Q75.0, 9059,kleiner_holmes_syndrome,,,,,,,Q74.2, 9060,klumpke_paralysis,,,,,P14.1,,, 9061,kniest_like_dysplasia_lethal,,,,,,C537208,Q77.8, 9062,kniest_like_dysplasia_with_pursed_lips_and_ectopia_lentis,,,,,,,, 9063,knobloch_syndrome,,,,,,,, 9064,knuckle_pads_leuconychia_and_sensorineural_deafness,,,,,,,, 9065,kocher_debre_semelaigne_syndrome,,,,,,,, 9066,kohlschutter_tonz_syndrome,,,,,,,, 9067,konigsmark_knox_hussels_syndrome,,,,,,,H47.2, 9068,koone_rizzo_elias_syndrome,,,,,,,, 9069,kosztolanyi_syndrome,,,,,,,, 9070,kotzot_richter_syndrome,,,,,E70.3,,, 9071,kousseff_nichols_syndrome,,,,,,,, 9072,kowarski_syndrome,,,,,,,E23.0, 9073,kozlowski_brown_hardwick_syndrome,,,,,,C537506,, 9074,kozlowski_celermajer_tink_syndrome,,,,,,,, 9075,kozlowski_ouvrier_syndrome,,,,,,,, 9076,kozlowski_rafinski_klicharska_syndrome,,,,,,,, 9077,kozlowski_warren_fisher_syndrome,,,,,,,, 9078,kozlowski_krajewska_syndrome,,,,,,,, 9079,krabbe_disease_atypical_due_to_saposin_a_deficiency,,,,,,,, 9080,krauss_herman_holmes_syndrome,,,,,,,, 9081,krieble_bixler_syndrome,,,,,,,, 9082,kshv_inflammatory_cytokine_syndrome,,,,,,,, 9083,kuskokwim_disease,kuskokwim_disease,,,,,,, 9084,kuster_majewski_hammerstein_syndrome,,,,,,,, 9085,kuster_syndrome,,,,,,,, 9086,kyphomelic_dysplasia,,,,,,,, 9087,kyrle_disease,kyrle_disease,,,,,,, 9088,laband_syndrome,,,,,,,, 9089,labrador_lung,labrador_lung,,,,,,, 9090,lachiewicz_sibley_syndrome,,,,,,,, 9091,lactate_dehydrogenase_a_deficiency,,,,,,,, 9092,lactate_dehydrogenase_b_deficiency_2,,,,,,,, 9093,lactate_dehydrogenase_deficiency,,,,,,,, 9094,lactate_dehydrogenase_deficiency_type_c,,,,,,,, 9095,lactic_acidosis_congenital_infantile,,,,,,,, 9096,lagophthalmia_cleft_lip_palate,,,,,,,, 9097,lambdoid_synostosis,,,,,,,, 9098,lambert_syndrome,,,,,,C538396,Q87.8, 9099,landy_donnai_syndrome,,,,,,,, 9100,langer_mesomelic_dysplasia,,,,,,C537267,Q87.1,38494008 9101,langer_nishino_yamaguchi_syndrome,,,,,,,, 9102,laparoschisis,laparoschisis,,,,,,, 9103,laplane_fontaine_lagardere_syndrome,,,,,,,, 9104,large_granular_lymphocyte_leukemia,,,,,,,, 9105,larsen_syndrome_recessive_type,,,,,,,, 9106,larsen_like_syndrome,,,,,,C537872,Q74.8, 9107,laryngeal_abductor_paralysis_mental_retardation,,,,,,,, 9108,laryngeal_cancer_childhood,,,,,,,, 9109,laryngeal_cleft,laryngeal_cleft,,,,,,, 9110,laryngeal_papillomatosis,,,,,,,, 9111,laryngocele,laryngocele,,,,Q31.3,,Q31.3,51523009 9112,laryngomalacia,laryngomalacia,,,,Q31.5,D055092,Q31.5,253737007 9113,laryngoonychocutaneous_syndrome,laryngoonychocutaneous_syndrome,,,,,,Q81.8, 9114,larynx_atresia,,,,,,,Q31.8, 9115,larynx_congenital_partial_atresia_of,,,,,,,, 9116,lassueur_graham_little_syndrome,,,,,,,, 9117,late_onset_congenital_adrenal_hyperplasia,,,,,,,, 9118,lateral_body_wall_defect,,,,,,,, 9119,lateral_meningocele_syndrome,,,,,,,Q87.5, 9120,lateral_semicircular_canal_malformation_familial_with_external_and_middle_ear_abnormalities,,,,,,,, 9121,laterality_defects_dominant,,,,,,,, 9122,lathosterolosis,lathosterolosis,,,,,C537880,Q87.8, 9123,lathyrism,lathyrism,,,,,,, 9124,lattice_corneal_dystrophy_type_1,,,,,,,H18.5, 9125,lattice_corneal_dystrophy_type_3a,,,,,,,, 9126,laugier_hunziker_syndrome,,,,,,,, 9127,laurence_prosser_rocker_syndrome,,,,,,,, 9128,laurin_sandrow_syndrome,,,,,,,, 9129,lcad_deficiency,,,,,,,, 9130,lchad_deficiency,,,,,,,E71.3|G60,237999008 9131,le_marec_bracq_picaud_syndrome,,,,,,,, 9132,leber_congenital_amaurosis_1,,,,,,D057130,H35.5,193413001 9133,leber_congenital_amaurosis_10,,,,,,,, 9134,leber_congenital_amaurosis_11,,,,,,,, 9135,leber_congenital_amaurosis_12,,,,,,,, 9136,leber_congenital_amaurosis_13,,,,,,,, 9137,leber_congenital_amaurosis_14,,,,,,,, 9138,leber_congenital_amaurosis_15,,,,,,,, 9139,leber_congenital_amaurosis_16,,,,,,,, 9140,leber_congenital_amaurosis_2,,,,,,,, 9141,leber_congenital_amaurosis_3,,,,,,,, 9142,leber_congenital_amaurosis_4,,,,,,,, 9143,leber_congenital_amaurosis_5,,,,,,,, 9144,leber_congenital_amaurosis_6,,,,,,,, 9145,leber_congenital_amaurosis_7,,,,,,,, 9146,leber_congenital_amaurosis_8,,,,,,,, 9147,leber_congenital_amaurosis_9,,,,,,,, 9148,leber_hereditary_optic_neuropathy_with_dystonia,,,,,,,, 9149,leber_miliary_aneurysm,,,,,,,, 9150,left_ventricular_noncompaction,,,,,,,, 9151,left_sided_gallbladder,,,,,,,, 9152,leg_absence_deformity_cataract,,,,,,,, 9153,leigh_syndrome_french_canadian_type,,,,,,D007888,G31.8,29570005 9154,leiner_disease,,,,,,,, 9155,leiomyoma_of_vulva_and_esophagus,,,,,,,, 9156,leiomyomatosis_familial,,,,,,,, 9157,leiomyomatosis_of_esophagus_cataract_and_hematuria,,,,,,,, 9158,leiomyomatosis_esophageal_and_vulval_with_nephropathy,,,,,,,Q87.8, 9159,leisti_hollister_rimoin_syndrome,,,,,,,, 9160,lelis_syndrome,lelis_syndrome,,,,,,, 9161,lenegre_disease,,,,,,,, 9162,lentigo_maligna_melanoma,lentigo_maligna_melanoma,,,,,,, 9163,lenz_majewski_hyperostotic_dwarfism,,,,,,C537115,Q87.1,1393001 9164,leri_pleonosteosis,,,,,,C537118,Q68.8,41656005 9165,leri_weill_dyschondrosteosis_2,leri-weill_dyschondrosteosis,,,,,C537119,Q77.8|Q74.0,17818006 9166,lethal_chondrodysplasia_moerman_type,,,,,,,, 9167,lethal_chondrodysplasia_seller_type,,,,,,,, 9168,lethal_congenital_contracture_syndrome_1,,,,,,C537194,Q68.8, 9169,lethal_congenital_contracture_syndrome_2,,,,,,,, 9170,lethal_congenital_glycogen_storage_disease_of_the_heart,,,,,,,, 9171,lethal_short_limb_skeletal_dysplasia_al_gazali_type,,,,,,,, 9172,lethal_short_limb_dwarfism_mcalister_crane_type,,,,,,,, 9173,leucine_sensitive_hypoglycemia_of_infancy,,,,,,,, 9174,leucocyte_adhesion_defect,leucocyte_adhesion_deficiency,,,,,,, 9175,leukemia_b_cell_chronic,,,,,,,, 9176,leukemia_t_cell_chronic,,,,,,,, 9177,leukocyte_adhesion_deficiency_type_1,,,,,,,, 9178,leukodystrophy_reunion_type,,,,,,,, 9179,leukodystrophy_with_oligodontia,,,,,,,, 9180,leukodystrophy_dysmyelinating_and_spastic_paraparesis_with_or_without_dystonia,,,,,,,, 9181,leukodystrophy_hypomyelinating_3,,,,,,,, 9182,leukodystrophy_pseudometachromatic,,,,,,,, 9183,leukoencephalopathy_palmoplantar_keratoderma,,,,,,,, 9184,leukoencephalopathy_arthritis_colitis_and_hypogammaglobulinema,,,,,,,, 9185,leukoencephalopathy_cerebral_calcifications_and_cysts,,,,,,,, 9186,leukomalacia,leukomalacia,,,,,,, 9187,leukomelanoderma_mental_redardation_hypotrichosis,,,,,,,, 9188,leukonychia_totalis,,,,,,C535889,Q84.4, 9189,leukoplakia,leukoplakia,,,,,,, 9190,levator_syndrome,levator_syndrome,,,,,,, 9191,levic_stefanovic_nikolic_syndrome,,,,,,,, 9192,levotransposition_of_the_great_arteries,,,,,,,, 9193,levy_yeboa_syndrome,,,,,,,, 9194,leydig_cells_hypoplasia,leydig_cell_hypoplasia,,,,,,, 9195,lichen_planus_follicularis,lichen_planus_follicularis,,,,L66.1,C535892,L66.1,64540004 9196,lichen_planus_pigmentosus,lichen_planus_pigmentosus,,,,,,L43.8, 9197,lichen_sclerosus,lichen_sclerosus,,,,L90.0,,, 9198,lichtenstein_syndrome,,,,,,,, 9199,light_chain_deposition_disease,light_chain_deposition_disease,,,,,,D89.8,373604002 9200,limb_deficiencies_distal_with_micrognathia,,,,,,,Q92.3, 9201,limb_dystonia,,,,,,,G24.8, 9202,limb_reduction_defect,,,,,Q73,,, 9203,limb_body_wall_complex,,,,,,,Q87.8, 9204,limb_girdle_muscular_dystrophy_type_2e,,,,,,,G71.0, 9205,limb_girdle_muscular_dystrophy_type_2f,,,,,,,G71.0, 9206,limb_girdle_muscular_dystrophy_type_2h,,,,,,,G71.0, 9207,limb_girdle_muscular_dystrophy_type_1a,,,,,,,G71.0, 9208,limb_girdle_muscular_dystrophy_type_1b,,,,,,,G71.0, 9209,limb_girdle_muscular_dystrophy_type_2b,,,,,,,G71.0, 9210,limb_girdle_muscular_dystrophy_type_2c,,,,,,,G71.0, 9211,limb_girdle_muscular_dystrophy_type_2d,,,,,,,G71.0, 9212,limb_girdle_muscular_dystrophy_type_2g,,,,,,,G71.0, 9213,limb_mammary_syndrome,limb-mammary_syndrome,,,,,C535903,, 9214,limbic_encephalitis,limbic_encephalitis,,,,,D020363,,230192003 9215,linear_and_whorled_nevoid_hypermelanosis,linear_and_whorled_nevoid_hypermelanosis,,,,,,L81.4,403803002 9216,linear_hamartoma_syndrome,,,,,,,, 9217,linear_iga_disease,,,,,,,L10.8,95330001 9218,linear_nevus_sebaceous_syndrome,,,,,,,, 9219,linear_porokeratosis,linear_porokeratosis,,,,,,, 9220,linear_scleroderma,linear_scleroderma,,,,L94.1,,, 9221,lip_and_oral_cavity_cancer,,,,,,,, 9222,lipase_deficiency_combined,,,,,,,, 9223,lipedema,lipedema,,,,,,E65,234102003 9224,lipidosis_with_triglycerid_storage_disease,,,,,,,, 9225,lipoamide_dehydrogenase_deficiency,,,,,,,, 9226,lipoatrophy_with_diabetes_hepatic_steatosis_cardiomyopathy_and_leukomelanodermic_papules,,,,,,,, 9227,lipodermatosclerosis,lipodermatosclerosis,,,,,,, 9228,lipodystrophy_familial_partial_type_2,,,,,,,, 9229,lipogranulomatosis,lipogranulomatosis,,,,,,, 9230,lipoid_proteinosis_of_urbach_and_wiethe,,,,,,,, 9231,lipomyelomeningocele,,,,,,,, 9232,lissencephaly_1,,,,,,,Q04.3, 9233,lissencephaly_2,lissencephaly_2,,,,,C537848,Q04.3, 9234,lissencephaly_x_linked,,,,,,,Q04.3, 9235,lissencephaly_isolated,,,,,,,, 9236,littoral_cell_angioma_of_the_spleen,littoral_cell_angioma,,,,,,, 9237,liver_failure_acute_infantile,,,,,,,, 9238,localized_epiphyseal_dysplasia,,,,,,,, 9239,localized_hypertrophic_neuropathy,,,,,,,, 9240,lockwood_feingold_syndrome,,,,,,,, 9241,loeys_dietz_syndrome_type_1a,,,,,I71.8|I71.9,,Q87.4, 9242,loeys_dietz_syndrome_type_1b,,,,,,,, 9243,loeys_dietz_syndrome_type_2a,,,,,,,I71.1|I71.2, 9244,loeys_dietz_syndrome_type_2b,,,,,,,Q87.4, 9245,loeys_dietz_syndrome_type_3,,,,,,,, 9246,logopenic_progressive_aphasia,logopenic_progressive_aphasia,,,,,,, 9247,loin_pain_hematuria_syndrome,loin_pain_hematuria_syndrome,,,,,,, 9248,long_qt_syndrome_1,,,,,,,, 9249,long_qt_syndrome_10,,,,,,,, 9250,long_qt_syndrome_11,,,,,,,, 9251,long_qt_syndrome_2,,,,,,,, 9252,long_qt_syndrome_3,,,,,,,, 9253,long_qt_syndrome_4,,,,,,,, 9254,long_qt_syndrome_5,,,,,,,, 9255,long_qt_syndrome_6,,,,,,,, 9256,long_qt_syndrome_8,,,,,,,, 9257,long_qt_syndrome_9,,,,,,D029597,I45.8,20852007 9258,loose_anagen_hair_syndrome,loose_anagen_syndrome,,,,,D058247,L65.1,238735005 9259,lopes_gorlin_syndrome,,,,,,,Q87.2, 9260,lower_mesodermal_defects_sequence,,,,,,,, 9261,lowry_maclean_syndrome,,,,,,C537037,Q87.8, 9262,lowry_wood_syndrome,,,,,,C537038,Q87.5, 9263,lubani_al_saleh_teebi_syndrome,,,,,,,, 9264,lubinsky_syndrome,,,,,,,, 9265,lubs_x_linked_mental_retardation_syndrome,,,,,,,Q99.8, 9266,lucey_driscoll_syndrome,,,,,,,, 9267,lujan_fryns_syndrome,lujan-fryns_syndrome,,,,,,Q87.8, 9268,lumbar_malsegmentation_short_stature,,,,,,,, 9269,lung_agenesis,,,,,Q33.3,,Q33.3, 9270,lupus_nephritis,lupus_nephritis,,,,,,, 9271,lutz_richner_landolt_syndrome,,,,,,,, 9272,lymphangiectasis,lymphangiectasis,,,,,,, 9273,lymphangiomatosis,lymphangiomatosis,,,,,,, 9274,lymphatic_neoplasm,,,,,,,, 9275,lymphedema_and_cerebral_arteriovenous_anomaly,,,,,,,, 9276,lymphedema_microcephaly_and_chorioretinopathy_syndrome,,,,,,C537711,, 9277,lymphedema_congenital,congenital_lymphedema,,,,,,, 9278,lymphoblastic_lymphoma,lymphoblastic_lymphoma,,,,C83.5,,, 9279,lymphocytes_absent,,,,,,,, 9280,lymphocytic_colitis,lymphocytic_colitis,,,,,D046730,K52.8,31437008 9281,lymphocytic_hypophysitis,lymphocytic_hypophysitis,,,,,,, 9282,lymphocytic_infiltrate_of_jessner,,,,,,,, 9283,lymphocytic_vasculitis,,,,,,,, 9284,lymphoma_aidsrelated,,,,,,,, 9285,lymphoma_gastric_non_hodgkins_type,,,,,,,, 9286,lymphoma_large_cell_immunoblastic,,,,,,,, 9287,lymphoma_small_cleaved_cell_diffuse,,,,,,,, 9288,lymphoma_small_cleaved_cell_follicular,,,,,,,, 9289,lymphomatoid_granulomatosis,lymphomatoid_granulomatosis,,,,,D008230,C83.8,239940004 9290,lymphomatoid_papulosis,lymphomatoid_papulosis,,,,L41.2,D017731,C86.6,31047003|397353001 9291,lymphomatous_thyroiditis,lymphomatous_thyroiditis,,,,,,, 9292,lysteria_monocytoigeneses_meningitis,,,,,,,, 9293,mac_dermot_winter_syndrome,,,,,,,Q87.0, 9294,macrocephaly_mesodermal_hamartoma_spectrum,,,,,,,, 9295,macrocephaly_benign_familial,,,,,,,, 9296,macrocephaly_mental_retardation_short_stature_spastic_paraplegia_and_cns_malformations,,,,,,,, 9297,macrocephaly_capillary_malformation,macrocephaly-capillary_malformation,,,,,,Q87.3, 9298,macrodactyly_of_the_foot,,,,,,,, 9299,macrodactyly_of_the_hand,,,,,,,, 9300,macroepiphyseal_dysplasia_with_osteoporosis_wrinkled_skin_and_aged_appearance,,,,,,,, 9301,macroglossia,macroglossia,,,,Q38.2,C531735,Q38.2,270516002 9302,macrogyria_pseudobulbar_palsy_and_mental_retardation,,,,,,,, 9303,macrophagic_myofasciitis,macrophagic_myofasciitis,,,,,C537829,M60.8, 9304,macrosomia_with_lethal_microphthalmia,,,,,,,Q87.3, 9305,macrothrombocytopenia_progressive_deafness,,,,,,,, 9306,macular_dystrophy_atypical_vitelliform,,,,,,,, 9307,macular_dystrophy_concentric_annular,,,,,,,, 9308,macular_dystrophy_corneal_type_1,,,,,,,, 9309,macules_hereditary_congenital_hypopigmented_and_hyperpigmented,,,,,,,, 9310,madelung_disease,madelung_disease,,,,,,E88.8, 9311,madokoro_ohdo_sonoda_syndrome,,,,,,,, 9312,madras_motor_neuron_disease,madras_motor_neuron_disease,,,,,,,230255008 9313,mahvash_disease,,,,,,,, 9314,mal_de_debarquement,mal_de_debarquement,,,,,C537840,, 9315,malakoplakia,malakoplakia,,,,,,, 9316,male_pseudohermaphroditism_due_to_defective_lh_molecule,,,,,Q56.1,,, 9317,male_pseudohermaphroditism_intellectual_disability_syndrome_verloes_type,,,,,,,, 9318,malignant_cylindroma,,,,,,,, 9319,malignant_germ_cell_tumor,,,,,,,, 9320,malignant_hyperthermia_arthrogryposis_torticollis,,,,,,,, 9321,malignant_hyperthermia_susceptibility_type_1,,,,,,D008305|C536883,T88.3|G71.2,405501007 9322,malignant_hyperthermia_susceptibility_type_2,,,,,,,, 9323,malignant_hyperthermia_susceptibility_type_3,,,,,,,, 9324,malignant_hyperthermia_susceptibility_type_4,,,,,,,, 9325,malignant_hyperthermia_susceptibility_type_5,,,,,,,, 9326,malignant_hyperthermia_susceptibility_type_6,,,,,,,, 9327,malignant_melanoma_childhood,,,,,,,, 9328,malignant_mesenchymal_tumor,,,,,,,, 9329,malignant_mixed_mullerian_tumor,,,,,,,, 9330,malignant_teratocarcinosarcoma,,,,,,,, 9331,mallory_weiss_syndrome,mallory-weiss_syndrome,,,,,,, 9332,malonyl_coa_decarboxylase_deficiency,,,,,,C535702,E72.8,124594007|361203007 9333,malpuech_facial_clefting_syndrome,malpuech_facial_clefting_syndrome,,,,,,, 9334,mandibuloacral_dysplasia,mandibuloacral_dysplasia,,,,,C535705,Q87.5, 9335,mandibuloacral_dysplasia_with_type_a_lipodystrophy,,,,,,,, 9336,mandibuloacral_dysplasia_with_type_b_lipodystrophy,,,,,,C535706,Q87.5, 9337,mannose_binding_lectin_protein_deficiency,mannose-binding_lectin,,,,,,, 9338,mannosidosis_beta_a_lysosomal,,,,,,,, 9339,manouvrier_syndrome,,,,,,,Q87.8, 9340,manz_syndrome,,,,,,,, 9341,maple_syrup_urine_disease_type_1a,,,,,,,, 9342,maple_syrup_urine_disease_type_1b,,,,,,D008375,E71.0,190700007|24013007|27718001 9343,maple_syrup_urine_disease_type_2,,,,,,,, 9344,marchiafava_bignami_disease,,,,,,D054319,G37.1,386766007 9345,marcus_gunn_phenomenon,,,,,,,Q07.8, 9346,marden_walker_like_syndrome,,,,,,,Q87.0, 9347,marden_walker_syndrome,,,,,,C535910,Q87.0, 9348,marek_disease,mareks_disease,,,,,,, 9349,marfanoid_hypermobility_syndrome,,,,,,,, 9350,marfanoid_mental_retardation_syndrome_autosomal,,,,,,,, 9351,marginal_glioneuronal_heterotopia,,,,,,,, 9352,marie_type_ataxia,,,,,,,, 9353,marie_unna_congenital_hypotrichosis,,,,,,,, 9354,marinesco_sjogren_like_syndrome_msls,,,,,,,, 9355,markel_vikkula_mulliken_syndrome,,,,,,,, 9356,maroteaux_fonfria_syndrome,,,,,,,, 9357,maroteaux_stanescu_cousin_syndrome,,,,,,,, 9358,marphanoid_syndrome_type_de_silva,,,,,,,, 9359,marsden_nyhan_sakati_syndrome,,,,,,,, 9360,marshall_syndrome,marshall_syndrome,,,,,C536025,Q87.0,33410002 9361,marshall_smith_syndrome,,,,,,C536026,Q87.3,73284007 9362,martinez_monasterio_pinheiro_syndrome,,,,,,,, 9363,martsolf_syndrome,,,,,,,Q87.8, 9364,mass_syndrome,,,,,,,, 9365,massa_casaer_ceulemans_syndrome,,,,,,,, 9366,mastocytic_enterocolitis,,,,,,,, 9367,mastocytosis,mastocytosis,,,,Q82.2,,, 9368,mastocytosis_cutaneous_with_short_stature_conductive_hearing_loss_and_microtia,,,,,,,Q82.2, 9369,mastroiacovo_de_rosa_satta_syndrome,,,,,,,, 9370,mastroiacovo_gambi_segni_syndrome,,,,,,,, 9371,maternal_hyperphenylalaninemia,,,,,,,, 9372,maternally_inherited_leigh_syndrome,,,,,,,, 9373,matsoukas_liarikos_giannika_syndrome,,,,,,,, 9374,maturity_onset_diabetes_of_the_young_type_1,,,,,,,E11.8, 9375,maturity_onset_diabetes_of_the_young_type_2,,,,,,,, 9376,maturity_onset_diabetes_of_the_young_type_3,,,,,,,, 9377,maturity_onset_diabetes_of_the_young_type_4,,,,,,,, 9378,maturity_onset_diabetes_of_the_young_type_5,,,,,,,, 9379,maturity_onset_diabetes_of_the_young_type_6,,,,,,,, 9380,maturity_onset_diabetes_of_the_young_type_7,,,,,,,, 9381,maturity_onset_diabetes_of_the_young_type_8,,,,,,,, 9382,maturity_onset_diabetes_of_the_young_type_9,,,,,,,, 9383,maumenee_syndrome,,,,,,,, 9384,maxillary_double_lip,,,,,,,, 9385,maxillofacial_dysostosis,,,,,,,, 9386,mayer_rokitansky_kuster_hauser_syndrome,,,,,,,, 9387,mccallum_macadam_johnston_syndrome,,,,,,,, 9388,mcdonough_syndrome,,,,,,C538158,Q87.8, 9389,mcdowall_syndrome,,,,,,,, 9390,mcgillivray_syndrome,,,,,,,, 9391,mcpherson_clemens_syndrome,,,,,,,, 9392,mcpherson_robertson_cammarano_syndrome,,,,,,,, 9393,mdp_syndrome,,,,,,,, 9394,meacham_winn_culler_syndrome,,,,,,,, 9395,meckel_syndrome_type_2,,,,,,,, 9396,meckel_syndrome_type_3,,,,,,,Q61.9, 9397,medeira_dennis_donnai_syndrome,,,,,,,, 9398,medial_medullary_syndrome,medial_medullary_syndrome,,,,,,, 9399,median_cleft_of_upper_lip_with_polyps_of_facial_skin_and_nasal_mucosa,,,,,,,Q87.8, 9400,median_nodule_of_the_upper_lip,,,,,,,Q18.8, 9401,mediastinal_endodermal_sinus_tumors,,,,,,,, 9402,medium_chain_3_ketoacyl_coa_thiolase_deficiency,,,,,,,, 9403,medrano_roldan_syndrome,,,,,,,, 9404,medullary_cystic_kidney_disease_1,,,,,,,, 9405,medullary_sponge_kidney,medullary_sponge_kidney,,,,,D007691,Q61.5,236443009 9406,meesmann_corneal_dystrophy,meesmann_corneal_dystrophy,,,,,D053559,H18.5,1674008 9407,megacystis_microcolon_intestinal_hypoperistalsis_syndrome_2,megacystis-microcolon-intestinal_hypoperistalsis_syndrome,,,,,,Q43.8, 9408,megaduodenum_and_or_megacystis,,,,,,,G71.2|K56.0, 9409,megalencephaly_polymicrogyria_and_hydrocephalus_mpph_syndrome,,,,,,,, 9410,megaloblastic_anemia_due_to_dihydrofolate_reductase_deficiency,,,,,,,D52.8, 9411,megalocornea_spherophakia_secondary_glaucoma,,,,,,,Q15.8, 9412,megalocornea_mental_retardation_syndrome,,,,,,,Q25.4, 9413,megalocytic_interstitial_nephritis,,,,,,,, 9414,megarbane_jalkh_syndrome,,,,,,,, 9415,megarbane_syndrome,,,,,,,, 9416,mehes_syndrome,,,,,,,, 9417,mehta_lewis_patton_syndrome,,,,,,,, 9418,meier_blumberg_imahorn_syndrome,,,,,,,, 9419,meier_gorlin_syndrome,,,,,,C538012,Q87.2, 9420,meigel_disease,,,,,,,, 9421,meinecke_syndrome,,,,,,,, 9422,melanocytic_lesions_of_cns,,,,,,,, 9423,melanoma_astrocytoma_syndrome,,,,,,,, 9424,meleda_disease,meleda_disease,,,,,,Q82.8, 9425,melhem_fahl_syndrome,,,,,,C537238,Q76.4, 9426,meliodosis,,,,,,,, 9427,melnick_needles_syndrome,,,,,,,Q77.8, 9428,membranoproliferative_glomerulonephritis_type_2,membranoproliferative_glomerulonephritis,,,,,,, 9429,meningococcal_infection,meningococcal_infections,,,,A39,,, 9430,meningococcemia,meningococcemia,,,,,,, 9431,meningoencephalocele,meningoencephalocele,,,,,,, 9432,mental_retardation_anophthalmia_craniosynostosis,,,,,,,, 9433,mental_retardation_arachnodactyly_hypotonia_telangiectasia,,,,,,,, 9434,mental_retardation_athetosis_microphthalmia,,,,,,,, 9435,mental_retardation_cataracts_calcified_pinnae_myopathy,,,,,,,, 9436,mental_retardation_coloboma_slimness,,,,,,,, 9437,mental_retardation_dysmorphism_hypogonadism_diabetes,,,,,,,, 9438,mental_retardation_epilepsy,,,,,,,, 9439,mental_retardation_epilepsy_bulbous_nose,,,,,,,, 9440,mental_retardation_gynecomastia_obesity_x_linked,,,,,,,, 9441,mental_retardation_hip_luxation_g6pd_variant,,,,,,,, 9442,mental_retardation_hypocupremia_hypobetalipoproteinemia,,,,,,,, 9443,mental_retardation_hypotonia_skin_hyperpigmentation,,,,,,,, 9444,mental_retardation_macrocephaly_coarse_facies_hypotonia,,,,,,,, 9445,mental_retardation_microcephaly_phalangeal_facial,,,,,,,, 9446,mental_retardation_microcephaly_unusual_facies,,,,,,,, 9447,mental_retardation_mietens_weber_type,,,,,,,, 9448,mental_retardation_progressive_spasticity,,,,,,,, 9449,mental_retardation_short_stature_deafness_genital,,,,,,,, 9450,mental_retardation_short_stature_microcephaly_eye,,,,,,,, 9451,mental_retardation_skeletal_dysplasia_abducens_palsy,,,,,,,, 9452,mental_retardation_smith_fineman_myers_type,,,,,,,, 9453,mental_retardation_spasticity_ectrodactyly,,,,,,,, 9454,mental_retardation_syndrome_belgian_type,,,,,,,, 9455,mental_retardation_wolff_type,,,,,,,, 9456,mental_retardation_x_linked_borderline_maoa_metabolism_anomaly,,,,,,,, 9457,mental_retardation_x_linked_dysmorphism,,,,,,,, 9458,mental_retardation_x_linked_with_cerebellar_hypoplasia_and_distinctive_facial_appearance,,,,,,,, 9459,mental_retardation_x_linked_south_african_type,,,,,,,, 9460,mental_retardation_epileptic_seizures_hypogonadism_and_hypogenitalism_microcephaly_and_obesity,,,,,,C537451,, 9461,mental_retardation_keratoconus_febrile_seizures_and_sinoatrial_block,,,,,,,, 9462,mental_retardation_macrocephaly_short_stature_and_craniofacial_dysmorphism,,,,,,,, 9463,mental_retardation_hypotonic_facies_syndrome_x_linked_1,,,,,,,, 9464,mental_retardation_polydactyly_uncombable_hair,,,,,,,, 9465,meralgia_paresthetica,meralgia_paresthetica,,,,G57.1,,, 9466,mercury_poisoning,mercury_poisoning,,,,,,T56.1, 9467,merlob_grunebaum_reisner_syndrome,,,,,,,, 9468,mesenteric_artery_ischemia,,,,,,,, 9469,mesomelia,,,,,,,, 9470,mesomelia_synostoses_syndrome,,,,,,,Q93.5, 9471,mesomelic_dwarfism_cleft_palate_camptodactyly,,,,,,,Q78.8, 9472,mesomelic_dwarfism_of_hypoplastic_tibia_and_radius_type,,,,,,,, 9473,mesomelic_dysplasia_kantaputra_type,,,,,,C535547,Q78.8, 9474,mesomelic_dysplasia_savarirayan_type,,,,,,,Q78.8, 9475,mesomelic_dysplasia_skin_dimples,,,,,,,, 9476,metacarpals_4_and_5_fusion,,,,,,,, 9477,metachondromatosis,metachondromatosis,,,,,,Q78.4,205481009 9478,metachromatic_leukodystrophy_due_to_saposin_b_deficiency,,,,,,,, 9479,metaphyseal_acroscyphodysplasia,,,,,,C537350,Q78.5, 9480,metaphyseal_anadysplasia,,,,,,,, 9481,metaphyseal_chondrodysplasia_spahr_type,,,,,,C537353,Q78.5,254084008 9482,metaphyseal_chondrodysplasia_with_cone_shaped_epiphyses_normal_hair_and_normal_hands,,,,,,,, 9483,metaphyseal_chondrodysplasia_others,,,,,,,, 9484,metaphyseal_dysostosis_mental_retardation_conductive_deafness,,,,,,,, 9485,metaphyseal_dysplasia_maxillary_hypoplasia_brachydactyly,,,,,,,, 9486,metaphyseal_dysplasia_without_hypotrichosis,,,,,Q78.5,,Q78.5, 9487,metaphyseal_undermodeling_spondylar_dysplasia_and_overgrowth,,,,,,,, 9488,metastatic_insulinoma,,,,,,,, 9489,metastatic_squamous_neck_cancer_with_occult_primary,,,,,,,, 9490,metatarsus_adductus,metatarsus_adductus,,,,,,, 9491,metatropic_dysplasia,,,,,,C537356,Q77.8,22764001 9492,methimazole_antenatal_infection,,,,,,,, 9493,methionine_adenosyltransferase_deficiency,,,,,,,, 9494,methyl_mercury_antenatal_infection,,,,,,,, 9495,methylcobalamin_deficiency_cbl_g_type,,,,,,,E72.1, 9496,methylcobalamin_deficiency_cbl_e_complementation_type,,,,,,,, 9497,methylmalonic_acidemia_with_homocystinuria,,,,,,,, 9498,methylmalonic_aciduria_cbla_type,,,,,,,, 9499,methylmalonic_aciduria_microcephaly_cataract,,,,,,,, 9500,methylmalonicacidemia_with_homocystinuria_cbl_d,,,,,,,, 9501,methylmalonyl_coenzyme_a_mutase_deficiency,,,,,,,, 9502,michelin_tire_baby_syndrome,michelin_tire_baby_syndrome,,,,,,, 9503,michels_caskey_syndrome,,,,,,,, 9504,michels_syndrome,michels_syndrome,,,,,,, 9505,mickleson_syndrome,mickleson_syndrome,,,,,,, 9506,microbrachycephaly_ptosis_cleft_lip,,,,,,,Q87.0, 9507,microcephalic_osteodysplastic_primordial_dwarfism_type_1,,,,,,,Q87.1, 9508,microcephalic_osteodysplastic_primordial_dwarfism_type_2,,,,,,,Q87.1, 9509,microcephalic_primordial_dwarfism_toriello_type,,,,,,C537321,Q87.1, 9510,microcephaly_brain_defect_spasticity_hypernatremia,,,,,,,Q02, 9511,microcephaly_cervical_spine_fusion_anomalies,,,,,,C537325,Q87.8, 9512,microcephaly_chorioretinopathy_recessive_form,,,,,,,, 9513,microcephaly_deafness_syndrome,,,,,,,, 9514,microcephaly_glomerulonephritis_marfanoid_habitus,,,,,,,Q87.8, 9515,microcephaly_hypergonadotropic_hypogonadism_short_stature,,,,,,,E22.8, 9516,microcephaly_microcornea_syndrome_seemanova_type,,,,,,C537536|C537539,Q87.8, 9517,microcephaly_micropenis_convulsions,,,,,,,, 9518,microcephaly_microphthalmos_blindness,,,,,,,, 9519,microcephaly_nonsyndromal,,,,,,,, 9520,microcephaly_pontocerebellar_hypoplasia_dyskinesia,,,,,,,, 9521,microcephaly_seizures_mental_retardation_heart_disorders,,,,,,,, 9522,microcephaly_sparse_hair_mental_retardation_seizures,,,,,,,, 9523,microcephaly_with_chorioretinopathy_autosomal_dominant_form,,,,,,,, 9524,microcephaly_with_spastic_quadriplegia,,,,,,,, 9525,microcephaly_corpus_callosum_dysgenesis_and_cleft_lip_palate,,,,,,,, 9526,microcephaly_hiatal_hernia_and_nephrotic_syndrome,galloway_mowat_syndrome,,,,,C537548,Q04.3, 9527,microcephaly_holoprosencephaly_and_intrauterine_growth_retardation,,,,,,,, 9528,microcephaly_postnatal_progressive_with_seizures_and_brain_atrophy,,,,,,,, 9529,microcephaly_seizures_and_developmental_delay,,,,,,,, 9530,microcephaly_albinism_digital_anomalies_syndrome,,,,,,C537322,, 9531,microcephaly_cardiomyopathy,,,,,,C536711|C537324,Q87.8, 9532,microcoria_congenital,,,,,,C537550,, 9533,microcornea_posterior_megalolenticonus_persistent_fetal_vasculature_coloboma_3,,,,,,,Q15.8, 9534,microcornea_corectopia_macular_hypoplasia,,,,,,C537551,Q15.8, 9535,microcornea_glaucoma_and_absent_frontal_sinuses,,,,,,C537552,Q15.8, 9536,microdeletion_15q112,,,,,,,Q93.5, 9537,microdontia_hypodontia_short_stature,,,,,,,, 9538,microgastria_limb_reduction_defect,,,,,,C537554,Q87.8, 9539,microhydranencephaly,,,,,,,, 9540,micromelic_bone_dysplasia_with_cloverleaf_skull,,,,,,,, 9541,microphthalmia_associated_with_colobomatous_cyst,,,,,,,, 9542,microphthalmia_cataract,,,,,,,, 9543,microphthalmia_mental_deficiency,,,,,F99-F99|F06.8|F06.9,,, 9544,microphthalmia_microtia_fetal_akinesia,,,,,,,, 9545,microphthalmia_syndromic_10,,,,,,,Q11.2, 9546,microphthalmia_syndromic_3,,,,,,,, 9547,microphthalmia_syndromic_4,,,,,,,, 9548,microphthalmia_syndromic_5,,,,,,,Q11.2, 9549,microphthalmia_syndromic_6,,,,,,,Q11.2, 9550,microphthalmia_syndromic_7,,,,,,,Q11.2, 9551,microphthalmia_syndromic_8,,,,,,,Q87.8, 9552,microphthalmia_syndromic_9,,,,,,,Q11.2, 9553,microphthalmia_isolated_with_corectopia,,,,,,,, 9554,microscopic_polyangiitis,microscopic_polyangiitis,,,,M31.0|M31.7,D055953,M31.7, 9555,microsomia_hemifacial_radial_defects,,,,,,,Q75.8, 9556,microspherophakia_with_hernia,,,,,,,, 9557,microtia_eye_coloboma_and_imperforation_of_the_nasolacrimal_duct,,,,,,,Q15.8, 9558,microtia_anotia,,,,,,,, 9559,microvillus_inclusion_disease,microvillus_inclusion_disease,,,,,,P78.3, 9560,midline_cleft_of_lower_lip,,,,,,,, 9561,midphalangeal_hair,,,,,,,, 9562,miles_carpenter_x_linked_mental_retardation_syndrome,,,,,,,, 9563,miller_dieker_syndrome,,,,,,D054221,Q04.3,253148005 9564,milner_khallouf_gibson_syndrome,,,,,,,, 9565,minicore_myopathy_with_external_ophthalmoplegia,,,,,,,G71.2, 9566,minicore_myopathy_antenatal_onset_with_arthrogryposis,,,,,,,, 9567,mirizzi_syndrome,mirizzis_syndrome,,,,,,, 9568,mirror_polydactyly_segmentation_and_limbs_defects,,,,,,,, 9569,mitochondrial_complex_i_deficiency,,,,,,,E88.8, 9570,mitochondrial_complex_ii_deficiency,,,,,,,G71.3, 9571,mitochondrial_complex_iii_deficiency,,,,,,,G71.3, 9572,mitochondrial_complex_v_deficiency,,,,,,,, 9573,mitochondrial_disease_with_severe_hypotonia_lactic_acidaemia_and_hyperammonemia,,,,,,,, 9574,mitochondrial_encephalomyopathy_lactic_acidosis_and_stroke_like_episodes,,,,,,,, 9575,mitochondrial_genetic_disorders,,,,,,,, 9576,mitochondrial_myopathy_with_diabetes,,,,,,,, 9577,mitochondrial_myopathy_with_lactic_acidosis,,,,,,,, 9578,mitochondrial_trifunctional_protein_deficiency,mitochondrial_trifunctional_protein_deficiency,,,,,,, 9579,mitral_atresia,mitral_atresia,,,,,,Q23.2, 9580,mitral_regurgitation_conductive_deafness_and_fusion_of_cervical_vertebrae_and_of_carpal_and_tarsal_bones,,,,,,,, 9581,mitral_valve_prolapse_familial_autosomal_dominant,,,,,,,, 9582,mitral_valve_prolapse_familial_x_linked,,,,,,,, 9583,miura_syndrome,,,,,,,, 9584,mixed_sclerosing_bone_dystrophy,,,,,,,, 9585,miyoshi_myopathy,miyoshi_myopathy,,,,,C537480,G71.0, 9586,mn1,,,,,,,, 9587,moebius_axonal_neuropathy_hypogonadism,,,,,,,, 9588,moebius_syndrome,mobius_syndrome,,,,,D020331,Q87.0, 9589,mollaret_meningitis,,,,,,,, 9590,moloney_syndrome,,,,,,,, 9591,molybdenum_cofactor_deficiency,molybdenum_cofactor_deficiency,,,,,,, 9592,momo_syndrome,momo_syndrome,,,,,,Q87.3, 9593,mondini_dysplasia,mondini_dysplasia,,,,,,, 9594,mondor_disease,,,,,,,, 9595,monogenic_diabetes,monogenic_diabetes,,,,,,, 9596,monomelic_amyotrophy,monomelic_amyotrophy,,,,,C538253,G12.8, 9597,montefiore_syndrome,,,,,,,, 9598,morels_ear,,,,,,,, 9599,morgagni_stewart_morel_syndrome,,,,,,,M85.2, 9600,morgellons,morgellons,,,,,,, 9601,morillo_cucci_passarge_syndrome,,,,,,,, 9602,morm_syndrome,morm_syndrome,,,,,C536984,, 9603,morquio_syndrome_b,,,,,,,E76.2, 9604,morquio_syndrome_c,,,,,,,, 9605,morse_rawnsley_sargent_syndrome,,,,,Q04.2,,Q04.2, 9606,morvans_fibrillary_chorea,,,,,,,, 9607,mosaic_monosomy_18,,,,,,,, 9608,mosaic_monosomy_22,,,,,,,, 9609,mosaic_trisomy_13,,,,,Q91.5,,, 9610,mosaic_trisomy_14,,,,,,C535489,Q92.1, 9611,mosaic_trisomy_22,,,,,,C536796,Q92.1, 9612,mosaic_trisomy_6,,,,,,,, 9613,mosaic_trisomy_7,,,,,,C537822,Q92.1, 9614,mosaic_trisomy_8,trisomy-8,,,,,C537940,Q92.1,205646001|68454002 9615,mosaic_trisomy_9,,,,,,C535454,Q92.1, 9616,mosaic_variegated_aneuploidy_syndrome,,,,,,C536987,Q99.8, 9617,motor_neuro_ophthalmic_disorders,,,,,,,, 9618,motor_neuropathy_peripheral_with_dysautonomia,,,,,,C536988,, 9619,motor_sensory_neuropathy_type_1_aplasia_cutis_congenita,motor_sensory_neuropathy_type_1_aplasia_cutis_congenita,,,,,,, 9620,mounier_kuhn_syndrome,,,,,,,, 9621,mousa_al_din_al_nassar_syndrome,,,,,,,, 9622,msbd_syndrome,,,,,,,, 9623,mthfr_gene_mutation,,,,,,,, 9624,muckle_wells_syndrome,,,,,,,E85.0|L50.8,15123008 9625,mucopolysaccharidosis_type_iiic,,,,,,,E76.2, 9626,mucopolysaccharidosis_type_iiid,n-acetylglucosamine-6-sulfatase,,,,,,E76.2, 9627,muller_barth_menger_syndrome,,,,,,,, 9628,mullerian_agenesis,mullerian_agenesis,,,,,,, 9629,mullerian_aplasia,mullerian_aplasia,,,,,C537371,Q52.8,253828000 9630,multicentric_castlemanas_disease,,,,,,,, 9631,multicentric_osteolysis_nephropathy,,,,,,,, 9632,multicystic_renal_dysplasia_bilateral,,,,,,C537373|D021782,Q61.4, 9633,multifocal_choroiditis,,,,,,,, 9634,multifocal_fibrosclerosis,multifocal_fibrosclerosis,,,,M35.5,,, 9635,multifocal_lymphangioendotheliomatosis_with_thrombocytopenia,,,,,,,, 9636,multifocal_motor_neuropathy,multifocal_motor_neuropathy,,,,,,, 9637,multifocal_motor_neuropathy_with_conduction_block,,,,,,,G61.8, 9638,multiple_carboxylase_deficiency_biotin_responsive,,,,,,,, 9639,multiple_carboxylase_deficiency_propionic_acidemia,,,,,,,, 9640,multiple_congenital_anomalies_mental_retardation_growth_failure_and_cleft_lip_palate,,,,,,,, 9641,multiple_endocrine_neoplasia_type_2a,,,,,,D018813,D44.8, 9642,multiple_epiphyseal_dysplasia_1,,,,,,,, 9643,multiple_epiphyseal_dysplasia_2,,,,,,,, 9644,multiple_epiphyseal_dysplasia_3,,,,,,,, 9645,multiple_epiphyseal_dysplasia_4,autosomal_recessive_multiple_epiphyseal_dysplasia,,,,,,, 9646,multiple_epiphyseal_dysplasia_5,,,,,,,, 9647,multiple_familial_trichoepithelioma,,,,,,,, 9648,multiple_familial_trichoepithelioma_1,,,,,,C536552,D23.3,403825008 9649,multiple_familial_trichoepithelioma_2,,,,,,,, 9650,multiple_fibrofolliculoma_familial,,,,,,,, 9651,multiple_joint_dislocations_metaphyseal_dysplasia,,,,,,,, 9652,multiple_pterygium_syndrome_aslan_type,,,,,,,, 9653,multiple_pterygium_syndrome_escobar_type,,,,,H11.0,,Q79.8, 9654,multiple_pterygium_syndrome_lethal_type,,,,,,C537378,Q79.8,60192008 9655,multiple_pterygium_syndrome_x_linked,,,,,,,, 9656,multiple_respiratory_chain_enzyme_deficiencies,,,,,,,, 9657,multiple_self_healing_squamous_epithelioma,,,,,,,, 9658,multiple_synostoses_syndrome_1,,,,,,,Q78.8, 9659,multiple_synostoses_syndrome_2,,,,,,,, 9660,multiple_system_atrophy_with_orthostatic_hypotension,,,,,,,, 9661,multiple_vertebral_anomalies_unusual_facies,,,,,,,, 9662,mungan_syndrome,mungan_syndrome,,,,,,, 9663,murcs_association,,,,,,,Q87.8, 9664,muscle_eye_brain_disease_2,,,,,,,, 9665,muscular_atrophy_ataxia_retinitis_pigmentosa_and_diabetes_mellitus,,,,,,C538193,,237611007 9666,muscular_dystrophy_late_onset,,,,,,,, 9667,muscular_dystrophy_limb_girdle_type_2a_erb_type,,,,,,,, 9668,muscular_dystrophy_white_matter_spongiosis,,,,,,,G71.2, 9669,muscular_dystrophy_congenital_infantile_with_cataract_and_hypogonadism,,,,,,,, 9670,muscular_dystrophy_congenital_megaconial_type,,,,,,,, 9671,muscular_dystrophy_congenital_merosin_positive,,,,,,,, 9672,muscular_fibrosis_multifocal_obstructed_vessels,,,,,,,, 9673,muscular_phosphorylase_kinase_deficiency,,,,,,,, 9674,mutagen_sensitivity,,,,,,,, 9675,mutiple_parosteal_osteochondromatous_proliferations,,,,,,,, 9676,myalgia_eosinophilia_associated_with_tryptophan,myalgia_eosinophilia_associated_with_tryptophan,,,,,D016603,M35.8,403735006 9677,myasthenia_gravis_congenital,,,,,,,, 9678,myasthenia_gravis_limb_girdle,,,,,,,, 9679,mycetoma,mycetoma,,,,B47|B47.9,D008271,B47,410039003|95881004 9680,mycobacterium_abscessus,mycobacterium_abscessus,,,,,,, 9681,mycobacterium_chelonae,mycobacterium_chelonae,,,,,,, 9682,mycobacterium_fortuitum,mycobacterium_fortuitum,,,,,,, 9683,mycobacterium_gordonae,mycobacterium_gordonae,,,,,,, 9684,mycobacterium_kansasii,mycobacterium_kansasii,,,,,,, 9685,mycobacterium_malmoense,mycobacterium_malmoense,,,,,,, 9686,mycobacterium_marinum,mycobacterium_marinum,,,,,,, 9687,mycobacterium_tuberculosis_susceptibility_to_infection_by,,,,,,,, 9688,mycobacterium_xenopi,mycobacterium_xenopi,,,,,,A31.8, 9689,mycoplasmal_pneumonia,mycoplasmal_pneumonia,,,,,,, 9690,myelocerebellar_disorder,,,,,,,, 9691,myelocytic_leukemia_like_syndrome_familial_chronic,,,,,,,, 9692,myelodysplastic_syndromes,myelodysplastic_syndrome,,,,D46|D46.6|D46.9,D009190,D46,109995007|128623006|188736006 9693,myeloid_splenomegaly,,,,,,,, 9694,myelomeningocele,myelomeningocele,,,,,,, 9695,myeloperoxidase_deficiency,myeloperoxidase_deficiency,,,,,,E80.3,129644003|234433009 9696,myh7_related_scapuloperoneal_myopathy,,,,,,,, 9697,myh9_related_thrombocytopenia,,,,,,C537078|C535507,D69.4,236422008|234485006 9698,myhre_syndrome,,,,,,,Q87.8, 9699,myoclonic_astatic_epilepsy,myoclonic_astatic_epilepsy,,,,,,G40.4, 9700,myoclonus_cerebellar_ataxia_deafness,,,,,,,G11.1, 9701,myoclonus_epilepsy,,,,,,,, 9702,myoclonus_epilepsy_partial_seizure,,,,,,,, 9703,myofibrillar_lysis,,,,,,,, 9704,myoglobinuria_dominant_form,,,,,,,, 9705,myoglobinuria_recurrent,,,,,,,, 9706,myokymia_with_neonatal_epilepsy,,,,,,,, 9707,myopathic_carnitine_deficiency,,,,,,,, 9708,myopathy_congenital,congenital_myopathy,,,,,,G71.2, 9709,myopathy_congenital_multicore_with_external_ophthalmoplegia,,,,,,,, 9710,myopathy_growth_and_mental_retardation_hypospadias,,,,,,,, 9711,myopathy_mitochondrial_cataract,,,,,,,, 9712,myopathy_with_lysis_of_myofibrils,,,,,,,, 9713,myopathy_limb_girdle_with_bone_fragility,,,,,,,, 9714,myopathy_mitochondrial_progressive_with_congenital_cataract_hearing_loss_and_developmental_delay,,,,,,,, 9715,myopia_6,myopia,,,,H52.1,,, 9716,myotonia_congenita_autosomal_dominant,,,,,,,, 9717,myotonia_congenita_autosomal_recessive,,,,,,,, 9718,myotonia_mental_retardation_skeletal_anomalies,,,,,,,, 9719,myxoma_spotty_pigmentation_endocrine_overactivity,,,,,,,, 9720,myxozoa,myxozoa,,,,,,, 9721,n_acetyltransferase_deficiency,,,,,,,, 9722,n_acetyl_alpha_d_galactosaminidase_deficiency_type_iii,,,,,,,, 9723,n_acetylglutamate_synthetase_deficiency,n-acetylglutamate_synthetase_deficiency,,,,,,, 9724,nablus_mask_like_facial_syndrome,,,,,,,Q93.5, 9725,nadh_cytochrome_b5_reductase_deficiency,,,,,,,, 9726,naegeli_syndrome,naegeli_syndrome,,,,,,Q82.4,239084001 9727,nager_acrofacial_dysostosis,nager_acrofacial_dysostosis,,,,Q75.4,C538184,Q75.4,35520007 9728,naguib_richieri_costa_syndrome,,,,,,,Q87.0, 9729,nail_dysplasia_isolated_congenital,,,,,,,, 9730,nakajo_nishimura_syndrome,,,,,,,L98.8, 9731,nakajo_syndrome,nakajo_syndrome,,,,,,, 9732,nance_horan_syndrome,,,,,,C538336,Q87.0,445257004 9733,narrow_oral_fissure_short_stature_cone_shaped_epiphyses,,,,,,,, 9734,nasal_cavity_cancer_childhood,,,,,,,, 9735,nasal_polyposis_familial,,,,,,,, 9736,nasodigitoacoustic_syndrome,nasodigitoacoustic_syndrome,,,,,,Q87.0, 9737,nasopalpebral_lipoma_coloboma_syndrome,,,,,,,, 9738,nasopharyngeal_cancer_childhood,,,,,,,, 9739,natal_teeth_intestinal_pseudoobstruction_and_patent_ductus,,,,,,,, 9740,nathalie_syndrome,,,,,,C538342,Q87.8, 9741,native_american_myopathy,,,,,,C538343,G71.2, 9742,naxos_disease,naxos_disease,,,,,C538346,Q87.8, 9743,necrobiotic_xanthogranuloma,necrobiotic_xanthogranuloma,,,,,D058252,D76.3,404164003 9744,negative_rheumatoid_factor_polyarthritis,,,,,,,, 9745,neisseria_meningitidis_infection,meningococcal_infections,,,,A39.9,,, 9746,nemaline_myopathy_1,,,,,,,, 9747,nemaline_myopathy_2,,,,,,,, 9748,nemaline_myopathy_3,,,,,,,G71.2, 9749,nemaline_myopathy_4,,,,,,,, 9750,nemaline_myopathy_5,,,,,,,G71.2, 9751,nemaline_myopathy_6,,,,,,D017696,G71.2,75072002 9752,neonatal_adrenoleukodystrophy,neonatal_adrenoleukodystrophy,,,,,D018901|D052919,E71.3|G60.1,238061001|238062008 9753,neonatal_herpes,neonatal_herpes,,,,,,, 9754,neonatal_hypothyroidism,neonatal_hypothyroidism,,,,,,, 9755,neonatal_intrahepatic_cholestasis_caused_by_citrin_deficiency,,,,,,,E72.2, 9756,neonatal_meningitis,neonatal_meningitis,,,,,,, 9757,neonatal_ovarian_cyst,,,,,,,, 9758,neonatal_progeroid_syndrome,,,,,,C536423,E34.8,238874008 9759,neonatal_stroke,neonatal_stroke,,,,,,, 9760,neonatal_systemic_lupus_erythematosus,,,,,,,, 9761,nephrogenic_systemic_fibrosis,nephrogenic_systemic_fibrosis,,,,,,,424114000 9762,nephronophthisis_1,,,,,,,, 9763,nephronophthisis_familial_adult_spastic_quadriparesis,,,,,,,, 9764,nephropathic_cystinosis,,,,,,,, 9765,nephropathy_familial_with_hyperuricemia,,,,,,,, 9766,nephropathy_deafness_and_hyperparathyroidism,,,,,,C536401,Q87.8, 9767,nephrosis_deafness_urinary_tract_digital_malformation,,,,,,C536402,Q87.8, 9768,nephrotic_syndrome_ocular_anomalies,,,,,,,, 9769,nephrotic_syndrome_idiopathic_steroid_resistant,,,,,,,, 9770,nestor_guillermo_progeria_syndrome,,,,,,,E34.8, 9771,neu_laxova_syndrome,,,,,,C536405,Q87.8,77817004 9772,neuhauser_daly_magnelli_syndrome,,,,,,,, 9773,neuhauser_eichner_opitz_syndrome,,,,,,C536407,, 9774,neural_crest_tumor,,,,,,,, 9775,neural_tube_defects,neural_tube_defect,,,,,D016135,Q05,67531005 9776,neuroaxonal_dystrophy_renal_tubular_acidosis,,,,,,C537386,, 9777,neuroaxonal_dystrophy_infantile,infantile_neuroaxonal_dystrophy,,,,,,, 9778,neurocutaneous_melanosis,,,,,,,, 9779,neuroectodermal_endocrine_syndrome,,,,,E34.8|E34.9,,Q87.8, 9780,neuroendocrine_carcinoma_of_the_cervix,neuroendocrine_carcinoma_of_the_cervix,,,,,,, 9781,neuroepithelioma,neuroepithelioma,,,,,,, 9782,neurofaciodigitorenal_syndrome,,,,,,C537388,Q87.8, 9783,neurofibromatosis_type_3a,,,,,,,, 9784,neurofibromatosis_type_3b,,,,,,,, 9785,neurofibromatosis_type_5,,,,,,,, 9786,neurofibromatosis_type_6,,,,,,,L81.3, 9787,neurofibromatosis_noonan_syndrome,,,,,Q85.0,C537393|D009456,Q87.1,403820003 9788,neurofibromatosis_pheochromocytoma_duodenal_carcinoid_syndrome,,,,,,,, 9789,neurogenic_diabetes_insipidus,neurogenic_diabetes_insipidus,,,,,D020790,E23.2,45369008 9790,neurogenic_hypertension,,,,,,,, 9791,neuroma_biliary_tract,,,,,,,, 9792,neuromyelitis_optica_spectrum_disorder,,,,,,,, 9793,neuronal_interstitial_dysplasia,,,,,,,, 9794,neuronal_intranuclear_inclusion_disease,,,,,,C537395,G31.0, 9795,neuropathy_ataxia_retinitis_pigmentosa_syndrome,,,,,,,G31.8, 9796,neuropathy_hereditary_sensory_and_autonomic_type_1,,,,,,,G60.8,397734008 9797,neuropathy_sensory_spastic_paraplegia,,,,,,,, 9798,neuropathy_congenital_with_arthrogryposis_multiplex,,,,,,,, 9799,neuropathy_distal_hereditary_motor_jerash_type,,,,,,,G12.2, 9800,neuropathy_hereditary_motor_and_sensory_lom_type,,,,,,C535716,G60.0, 9801,neuropathy_hereditary_motor_and_sensory_okinawa_type,,,,,,C535717,G60.0, 9802,neuropathy_hereditary_motor_and_sensory_russe_type,,,,,,,G60.0, 9803,neurosyphilis,neurosyphilis,,,,A52.3,,, 9804,neutral_lipid_storage_disease_with_myopathy,,,,,,,E75.5, 9805,neutropenia_chronic_familial,,,,,,,, 9806,neutropenia_idiopathic,,,,,,,D70, 9807,neutropenia_lethal_congenital_with_eosinophilia,,,,,,,, 9808,neutropenia_monocytopenia_deafness,,,,,,,D82.8, 9809,neutrophil_specific_granule_deficiency,specific_granule,,,,,,D71, 9810,nevi_flammei_familial_multiple,,,,,,,, 9811,nevo_syndrome,,,,,,C536113,Q87.3, 9812,new_daily_persistent_headache,new_daily_persistent_headache,,,,,,, 9813,nguyen_syndrome,,,,,,,, 9814,nicolaides_baraitser_syndrome,,,,,,,, 9815,niemann_pick_disease_type_c1,,,,,,,E75.2, 9816,niemann_pick_disease_type_c2,,,,,,,, 9817,niemann_pick_disease_type_d,,,,,,,, 9818,nievergelt_syndrome,,,,,,,Q78.8, 9819,night_blindness_skeletal_anomalies_unusual_facies,,,,,,,, 9820,nipah_virus_encephalitis,,,,,,,, 9821,noble_bass_sherman_syndrome,,,,,,,Q15.8, 9822,nodular_regenerative_hyperplasia,nodular_regenerative_hyperplasia,,,,,,K76.8, 9823,non_24_hour_sleep_wake_disorder_2,non-24-hour_sleep-wake_disorder,,,,,,G47.2, 9824,non_a_e_hepatitis,,,,,,,, 9825,non_dystrophic_myotonic_disorders,,,,,,,, 9826,non_hodgkin_lymphoma_childhood,,,,,,,, 9827,non_hodgkin_lymphoma_during_pregnancy,,,,,,,, 9828,non_involuting_congenital_hemangioma,non-involuting_congenital_hemangioma,,,,,,D18.0,399973007 9829,non_lissencephalic_cortical_dysplasia,,,,,,,, 9830,non_small_cell_lung_cancer_childhood,,,,,,,, 9831,nonalcoholic_steatohepatitis,,,,,,,, 9832,nondystrophic_myotonia,,,,,,,, 9833,nonmedullary_thyroid_carcinoma_with_or_without_cell_oxyphilia,,,,,,,, 9834,nonseminomatous_germ_cell_tumor,,,,,,,, 9835,nonspherocytic_hemolytic_anemia_due_to_hexokinase_deficiency,,,,,,,, 9836,nonsyndromic_hereditary_sensorineural_hearing_loss,,,,,,,, 9837,noonan_syndrome_1,,,,,,,, 9838,noonan_syndrome_2,,,,,,,, 9839,noonan_syndrome_3,,,,,,,, 9840,noonan_syndrome_4,,,,,,,, 9841,noonan_syndrome_5,,,,,,D009634,Q87.1,205684007|205824006 9842,noonan_syndrome_6,,,,,,,, 9843,noonan_like_syndrome_with_loose_anagen_hair,,,,,,,Q87.1, 9844,noonan_like_multiple_giant_cell_lesion_syndrome,,,,,,,, 9845,normokalemic_periodic_paralysis,,,,,,,, 9846,normophosphatemic_familial_tumoral_calcinosis,normophosphatemic_familial_tumoral_calcinosis,,,,,,, 9847,norrie_disease,norrie_disease,,,,,C537849,H35.5, 9848,north_carolina_macular_dystrophy,,,,,,C537835,H35.5,312925009 9849,notalgia_paresthetica,notalgia_paresthetica,,,,,,, 9850,nova_syndrome,,,,,,,, 9851,novak_syndrome,,,,,,C537851,, 9852,nuchal_bleb_familial,,,,,,,, 9853,nystagmus_1_congenital_x_linked,,,,,,,, 9854,nystagmus_2_congenital_autosomal_dominant,,,,,,,, 9855,nystagmus_3_congenital_autosomal_dominant,,,,,,,, 9856,nystagmus_4_congenital_autosomal_dominant,,,,,,,, 9857,nystagmus_congenital_motor_autosomal_recessive,,,,,,,, 9858,nystagmus_hereditary_vertical,,,,,,,, 9859,nystagmus_myoclonic,,,,,,,, 9860,o_donnell_pappas_syndrome,,,,,,,, 9861,occipital_horn_syndrome,occipital_horn_syndrome,,,,,C537860,E83.0,59399004 9862,occult_spinal_dysraphism,occult_spinal_dysraphism_sequence,,,,,,, 9863,ochoa_syndrome,ochoa_syndrome,,,,N13.0|N13.1|N13.2,C536480,,236533008 9864,ocular_cicatricial_pemphigoid,,,,,,,, 9865,ocular_colobomas_ichthyosis_brain_malformations_and_endocrine_abnormalities,,,,,,,, 9866,ocular_melanoma,,,,,,,, 9867,ocular_muscular_dystrophy,,,,,,,, 9868,ocular_neuromyotonia,,,,,,,, 9869,ocular_toxoplasmosis,ocular_toxoplasmosis,,,,,,, 9870,oculo_cerebro_acral_syndrome,,,,,,,, 9871,oculo_cerebro_osseous_syndrome,,,,,,,, 9872,oculo_digital_syndrome,,,,,,,, 9873,oculo_skeletal_renal_syndrome,,,,,,,, 9874,oculo_cerebral_dysplasia,,,,,,,, 9875,oculoauriculofrontonasal_syndrome,,,,,,,, 9876,oculocerebral_hypopigmentation_syndrome_type_preus,,,,,,C537866,, 9877,oculocerebral_syndrome_with_hypopigmentation,oculocerebral-hypopigmentation_syndrome,,,,,,E70.3, 9878,oculocerebrocutaneous_syndrome,oculocerebrocutaneous_syndrome,,,,,C538088,Q87.8,403554008 9879,oculocutaneous_albinism_type_1b,,,,,,C537729,E70.3, 9880,oculocutaneous_albinism_type_3,,,,,,C537189|C537731,E70.3,63450009 9881,oculodentodigital_dysplasia,oculodentodigital_dysplasia,,,,,,Q87.8, 9882,oculodentodigital_dysplasia_dominant,,,,,,,, 9883,oculodentoosseous_dysplasia_recessive,,,,,,,, 9884,oculoectodermal_syndrome,,,,,,,, 9885,oculofaciocardiodental_syndrome,oculofaciocardiodental_syndrome,,,,,C537465|C537735,Q11.2|Q87.8,438504004 9886,oculomaxillofacial_dysostosis,,,,,,C537736,Q75.5, 9887,oculomotor_apraxia_cogan_type,,,,,R40.2,,, 9888,oculootofacial_dysplasia,,,,,,,Q87.0, 9889,oculorenocerebellar_syndrome,,,,,,,, 9890,odonto_onycho_dysplasia_with_alopecia,,,,,,,, 9891,odontogenic_myxoma,odontogenic_myxoma,,,,,,, 9892,odontoma,odontoma,,,,,,, 9893,odontoma_dysphagia_syndrome,odontoma_dysphagia_syndrome,,,,,,, 9894,odontomicronychial_dysplasia,,,,,,C537741,, 9895,odontoonychodermal_dysplasia,,,,,,C537742,Q82.4,403762003 9896,ogilvie_syndrome,ogilvie_syndrome,,,,,,, 9897,okamoto_syndrome,,,,,Q62.0,,Q87.8, 9898,oligoastrocytoma,oligoastrocytoma,,,,,,, 9899,oligodactyly_tetramelic_postaxial,,,,,,,Q73.8, 9900,oligomeganephronic_renal_hypoplasia,,,,,,,Q60.4, 9901,oliver_syndrome,,,,,,,Q87.2, 9902,olivopontocerebellar_atrophy_deafness,,,,,,,, 9903,olmsted_syndrome,olmsted_syndrome,,,,,,, 9904,omodysplasia_1,,,,,,,Q78.8, 9905,omodysplasia_2,,,,,,,Q78.8, 9906,omphalocele_cleft_palate_syndrome_lethal,,,,,,C537747,Q87.8, 9907,omphalocele_exstrophy_imperforate_anus,,,,,,,, 9908,omphalomesenteric_cyst,,,,,,,Q43.0, 9909,oncogenic_osteomalacia,tumor-induced_osteomalacia,,,,,,, 9910,onychocytic_matricoma,,,,,,,, 9911,onychotrichodysplasia_and_neutropenia,,,,,,,L98.8, 9912,ophthalmoplegic_muscular_dystrophy,,,,,,,, 9913,opitz_g_bbb_syndrome,,,,,Q75.2,,, 9914,opsismodysplasia,opsismodysplasia,,,,,C537122,Q78.8,254068007 9915,opthalmic_icthyosis,,,,,,,, 9916,opthalmomandibulomelic_dysplasia,,,,,,,, 9917,opthalmoplegia_mental_retardation_lingua_scrotalis,,,,,,,, 9918,opthalmoplegia_myalgia_tubular_aggregates,,,,,,,, 9919,opthalmoplegia_progressive_external_scoliosis,,,,,,,, 9920,optic_atrophy_1_and_deafness,,,,,,,, 9921,optic_atrophy_2,,,,,,,, 9922,optic_atrophy_5,,,,,,,, 9923,optic_atrophy_6,,,,,,,, 9924,optic_atrophy_and_cataract_autosomal_dominant,,,,,,C537128,H47.2, 9925,optic_atrophy_opthalmoplegia_ptosis_deafness_myopia,,,,,,,, 9926,optic_atrophy_polyneuropathy_deafness,,,,,,,, 9927,optic_nerve_hypoplasia_familial_bilateral,,,,,,,, 9928,optic_neuropathy_anterior_ischemic,anterior_ischemic_optic_neuropathy,,,,,,, 9929,optic_pathway_glioma,,,,,,,C72.3, 9930,oral_cancer,oral_cancer,,,,,,, 9931,oral_leukoplakia,,,,,,,, 9932,oral_lichen_planus,oral_lichen_planus,,,,,,, 9933,oral_pharyngeal_disorders,,,,,,,, 9934,oral_squamous_cell_carcinoma,,,,,,,, 9935,orbital_lymphangioma,,,,,,,, 9936,orbital_melanoma,,,,,,,, 9937,orbital_varix,,,,,,,, 9938,organic_mood_syndrome,,,,,F06.3,,, 9939,ornithinemia,,,,,,,, 9940,oro_mandibular_limb_hypogenesis_syndrome,,,,,,,Q87.5, 9941,orofaciodigital_syndrome_10,,,,,,,Q87.0, 9942,orofaciodigital_syndrome_11,,,,,,,Q87.0, 9943,orofaciodigital_syndrome_12,,,,,,C548034,Q87.0, 9944,orofaciodigital_syndrome_13,,,,,,C548035,Q87.0, 9945,orofaciodigital_syndrome_2,,,,,,C538585,Q87.0,1779005 9946,orofaciodigital_syndrome_3,orofaciodigital_syndrome_type_3,,,,,,Q87.0, 9947,orofaciodigital_syndrome_4,,,,,,,, 9948,orofaciodigital_syndrome_5,,,,,,,Q87.0, 9949,orofaciodigital_syndrome_6,,,,,,,, 9950,orofaciodigital_syndrome_8,,,,,,,Q87.0, 9951,orofaciodigital_syndrome_9,,,,,,,Q87.0, 9952,oropharyngeal_cancer_adult,,,,,C10,,, 9953,oropharyngeal_cancer_childhood,,,,,,,, 9954,orotic_aciduria_type_1,,,,,,C537136,D53.0,16242007|69525003 9955,orstavik_lindemann_solberg_syndrome,,,,,,,, 9956,oslam_syndrome,oslam_syndrome,,,,,C537138,C41.9, 9957,ossicular_malformations_familial,,,,,,,, 9958,ossification_of_the_posterior_longitudinal_ligament_of_the_spine,,,,,,,, 9959,osteoarthropathy_of_fingers_familial,,,,,,,, 9960,osteochondroma,osteochondroma,,,,,,, 9961,osteodysplasia_familial_anderson_type,,,,,,,, 9962,osteodysplasty_precocious_of_danks_mayne_and_kozlowski,,,,,,,, 9963,osteoectasia_familial,,,,,,,, 9964,osteofibrous_dysplasia,osteofibrous_dysplasia,,,,,,, 9965,osteogenesis_imperfecta_congenita_microcephaly_and_cataracts,,,,,,,, 9966,osteogenesis_imperfecta_levin_type,,,,,,,, 9967,osteogenesis_imperfecta_type_1a,,,,,,,, 9968,osteogenesis_imperfecta_type_2a,,,,,,,, 9969,osteogenesis_imperfecta_type_2b,,,,,,,, 9970,osteogenesis_imperfecta_type_4,,,,,Q78.0,C536045,Q78.0,205497004 9971,osteogenesis_imperfecta_type_5,,,,,,C536046,Q78.0, 9972,osteogenesis_imperfecta_type_6,,,,,,,, 9973,osteogenesis_imperfecta_type_7,,,,,,,, 9974,osteogenesis_imperfecta_type_8,,,,,,,, 9975,osteogenesis_imperfecta_type_9,,,,,,,, 9976,osteoglophonic_dysplasia,,,,,,C536050,Q87.1,254144002 9977,osteolysis_syndrome_recessive,,,,,,,, 9978,osteopathia_striata_cranial_sclerosis,,,,,,C536053,Q78.8,254129003 9979,osteopathia_striata_with_pigmentary_dermopathy_including_white_forelock,,,,,,,Q77.8, 9980,osteopenia_and_sparse_hair,,,,,,C537706,, 9981,osteopetrosis_and_infantile_neuroaxonal_dystrophy,,,,,,,, 9982,osteopetrosis_autosomal_dominant_type_1,,,,,,,, 9983,osteopetrosis_autosomal_dominant_type_2,,,,,,,Q78.2, 9984,osteopetrosis_autosomal_recessive_1,,,,,,,, 9985,osteopetrosis_autosomal_recessive_2,,,,,,,, 9986,osteopetrosis_autosomal_recessive_3,,,,,,,, 9987,osteopetrosis_autosomal_recessive_4,,,,,,,, 9988,osteopetrosis_autosomal_recessive_5,,,,,,,, 9989,osteopetrosis_autosomal_recessive_6,,,,,,,Q78.2,254121000 9990,osteopetrosis_autosomal_recessive_7,,,,,,,Q78.2, 9991,osteopoikilosis_and_dacryocystitis,,,,,,C536061,, 9992,osteoporosis_oculocutaneous_hypopigmentation_syndrome,,,,,,,, 9993,osteoporosis_pseudoglioma_syndrome,,,,,M80|M81|M82|M80.9|M81.9|M82.8,C536063,Q87.5,254112001 9994,osteosclerosis_abnormalities_of_nervous_system_and_meninges,,,,,,,, 9995,osteosclerosis_with_ichthyosis_and_premature_ovarian_failure,,,,,,C536064,, 9996,oto_palatal_digital_syndrome,,,,,,,, 9997,oto_palato_digital_syndrome_type_1,,,,,,,Q87.0, 9998,oto_palato_digital_syndrome_type_2,,,,,,C538089,Q87.0,42432003 9999,otodental_dysplasia,,,,,,,, 10000,otofaciocervical_syndrome,,,,,,,Q87.0, 10001,otoonychoperoneal_syndrome,,,,,,,Q87.5,441944007 10002,otosclerosis_familial,,,,,,,, 10003,ouvrier_billson_syndrome,,,,,,,, 10004,ovarian_cancer_childhood,,,,,,,, 10005,ovarian_epithelial_cancer,,,,,,,, 10006,ovarian_germ_cell_tumor,,,,,,,, 10007,ovarian_insufficiency_due_to_fsh_resistance,,,,,,,, 10008,ovarian_insufficiency_familial,,,,,,,, 10009,ovarian_low_malignant_potential_tumor,,,,,,,, 10010,ovarian_remnant_syndrome,,,,,,,, 10011,overgrowth_radial_ray_defect_arthrogryposis,,,,,,,, 10012,pachygyria,pachygyria,,,,,,, 10013,pachygyria_with_mental_retardation_and_seizures,,,,,,,, 10014,pachygyria_frontotemporal,,,,,,,, 10015,pachyonychia_congenita_type_2,,,,,,,, 10016,pacman_dysplasia,pacman_dysplasia,,,,,C538095,Q77.8, 10017,paget_disease_of_bone_familial,,,,,,,, 10018,paget_disease_extramammary,,,,,,D010145,C44,232336001|71447003 10019,paget_disease_juvenile,,,,,,,M88, 10020,pagod_syndrome,,,,,,,Q87.8, 10021,pagon_stephan_syndrome,,,,,,,, 10022,paine_syndrome,,,,,,,, 10023,painful_orbital_and_systemic_neurofibromas_marfanoid_habitus_syndrome,,,,,,,, 10024,palant_cleft_palate_syndrome,,,,,,,, 10025,palatopharyngeal_incompetence,velopharyngeal_incompetence,,,,,,J39.2,427791009 10026,pallidopyramidal_syndrome,,,,,,,, 10027,pallister_w_syndrome,,,,,,,Q87.0, 10028,pallister_killian_mosaic_syndrome,,,,,,,, 10029,palmer_pagon_syndrome,,,,,,,, 10030,palmoplantar_keratoderma_of_sybert,,,,,,,, 10031,palmoplantar_keratoderma_epidermolytic,epidermolytic_palmoplantar_keratoderma,,,,,,Q82.8, 10032,pancreatic_adenoma,pancreatic_adenoma,,,,,C538110,D13.6, 10033,pancreatic_agenesis,,,,,,,Q45.0, 10034,pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus,,,,,,C538111,E10, 10035,pancreatic_cancer_childhood,,,,,,,, 10036,pancreatic_carcinoma_familial,,,,,,,, 10037,pancreatic_islet_cell_tumors,pancreatic_islet_cell_tumors,,,,,,, 10038,pancreatic_lipomatosis_duodenal_stenosis,,,,,,,, 10039,pancreatitis_pediatric,,,,,,,, 10040,pandas,pandas,,,,,,, 10041,panhypopituitarism_x_linked,,,,,,,, 10042,panostotic_fibrous_dysplasia,,,,,,,, 10043,papular_mucinosis,papular_mucinosis,,,,,,L98.5, 10044,papular_urticaria,,,,,,,, 10045,paraganglioma_and_gastric_stromal_sarcoma,,,,,,,D44.8, 10046,paragangliomas_1,,,,,,,, 10047,paragangliomas_2,,,,,,,, 10048,paragangliomas_3,,,,,,,, 10049,paragangliomas_4,,,,,,,, 10050,parainfluenza_virus_type_3,,,,,,,, 10051,paralysis_agitans_juvenile_of_hunt,,,,,,,, 10052,paramyotonia_congenita,paramyotonia_congenita,,,,,C538616,G71.1, 10053,paranasal_sinus_cancer_adult,,,,,,,, 10054,paranasal_sinus_cancer_childhood,,,,,,,, 10055,paraneoplastic_cerebellar_degeneration,paraneoplastic_cerebellar_degeneration,,,,,,, 10056,paraneoplastic_neurologic_disorders,,,,,,,, 10057,paraomphalocele,paraomphalocele,,,,,,, 10058,paraquat_lung,,,,,,,, 10059,parastremmatic_dwarfism,parastremmatic_dwarfism,,,,,C537172,Q87.1,254095002 10060,parathyroid_cancer_childhood,,,,,,,, 10061,parc_syndrome,,,,,,C537174,Q87.8, 10062,parenchymatous_cortical_degeneration_of_cerebellum,,,,,,,, 10063,paris_trousseau_thrombocytopenia,,,,,,C538617,D69.4, 10064,parkes_weber_syndrome,,,,,,,, 10065,parkinson_disease_type_3,,,,,,,, 10066,parkinson_disease_type_9,,,,,,,, 10067,parkinsonism_early_onset_with_mental_retardation,,,,,,,, 10068,paroxysmal_cold_hemoglobinuria,,,,,,C538618,D59.6,127057004|62871001 10069,paroxysmal_hemicrania,,,,,,D051302,G44.8,443094001 10070,paroxysmal_nocturnal_hemoglobinuria,paroxysmal_nocturnal_hemoglobinuria,,,,D59.5,,, 10071,paroxysmal_ventricular_fibrillation,,,,,,,, 10072,parsonage_turner_syndrome,,,,,,,, 10073,partial_agenesis_of_corpus_callosum,,,,,,,Q04.8, 10074,partial_atrioventricular_canal,,,,,,,, 10075,partial_deletion_of_y,,,,,,,, 10076,partial_lissencephaly,,,,,,,, 10077,partington_anderson_syndrome,,,,,,C536299,, 10078,partington_x_linked_mental_retardation_syndrome,,,,,,,, 10079,parvovirus_antenatal_infection,parvovirus_antenatal_infection,,,,,,, 10080,passos_bueno_syndrome,,,,,,,, 10081,pasteurella_multocida_infection,,,,,,,, 10082,patel_bixler_syndrome,,,,,,,, 10083,patella_hypoplasia_mental_retardation,,,,,,,, 10084,patent_ductus_venosus,,,,,,,, 10085,patterned_dystrophy_of_retinal_pigment_epithelium,,,,,,,, 10086,patterson_pseudoleprechaunism_syndrome,,,,,,C536310,, 10087,patterson_stevenson_syndrome,,,,,,,, 10088,pauciarticular_chronic_arthritis,,,,,,,, 10089,pauciarticular_onset_juvenile_idiopathic_arthritis,,,,,,,, 10090,pdgfrb_associated_chronic_eosinophilic_leukemia,,,,,D72.1,,, 10091,pectus_carinatum,pectus_carinatum,,,,Q67.7,,, 10092,pediatric_multiple_sclerosis,,,,,,,, 10093,pediatric_t_cell_leukemia,,,,,,,, 10094,pediatric_ulcerative_colitis,,,,,,,, 10095,peeling_skin_syndrome,,,,,,,Q80.8,238643009 10096,peho_syndrome,,,,,,C536317,G31.8,442511009 10097,pelizaeus_merzbacher_disease_late_onset_type,,,,,,,, 10098,pellagra_like_syndrome,,,,,,,, 10099,pellucid_marginal_degeneration,,,,,,,, 10100,pelvic_dysplasia_arthrogryposis_of_lower_limbs,,,,,,C535292|C535548,, 10101,pemphigoid_gestationis,pemphigoid_gestationis,,,,,D006559,L12.8,86081009 10102,pemphigus_and_fogo_selvagem,,,,,L10.3,,, 10103,pemphigus_foliaceus,,,,,L10.2,,L10.2,35154004 10104,pemphigus_vulgaris,pemphigus_vulgaris,,,,L10.0,,L10.0,49420001 10105,pemphigus_vulgaris_familial,,,,,,,, 10106,penile_cancer_adult,,,,,,,, 10107,penile_cancer_childhood,,,,,,,, 10108,penis_agenesis,,,,,,C536649,Q55.5, 10109,penoscrotal_transposition,,,,,,C536650,Q55.8, 10110,pentalogy_of_cantrell,,,,,,D058502,Q89.7,281587000 10111,pentosuria,pentosuria,,,,,C536652,E74.8,190764000|55824003 10112,penttinen_aula_syndrome,,,,,,,, 10113,pepck_1_deficiency,,,,,,C536654,E74.4,5335002 10114,pepck_2_deficiency,,,,,,C536655,E74.4, 10115,peptidic_growth_factors_deficiency,,,,,,,, 10116,periarteritis_nodosa,periarteritis_nodosa,,,,,,, 10117,pericardium_absent_mental_retardation_short_stature,,,,,,,, 10118,perilymphatic_fistula,,,,,H83.1,,, 10119,perimyositis,,,,,,,, 10120,periodic_fever_aphthous_stomatitis_pharyngitis_and_adenitis,,,,,,,, 10121,periodic_fever_familial_autosomal_dominant,,,,,,,E85.0, 10122,peripheral_t_cell_lymphoma,,,,,C84.4,,, 10123,perniosis,perniosis,,,,T69.1,,, 10124,peroxisome_biogenesis_disorders,peroxisome_biogenesis_disorders,,,,,,, 10125,peroxisome_disorders,peroxisome_biogenesis_disorders,,,,,,, 10126,persistence_of_mullerian_derivatives_with_lymphangiectasia_and_postaxial_polydactyly,,,,,,,, 10127,persistent_mullerian_duct_syndrome,persistent_mullerian_duct_syndrome,,,,,,, 10128,persistent_sexual_arousal_syndrome,persistent_sexual_arousal_syndrome,,,,,,, 10129,persistent_truncus_arteriosus,,,,,,,, 10130,peters_plus_syndrome,peters_anomaly,,,,,C537884,Q13.4, 10131,petit_fryns_syndrome,,,,,,,, 10132,pfeiffer_kapferer_syndrome,,,,,,,, 10133,pfeiffer_mayer_syndrome,,,,,,,, 10134,pfeiffer_palm_teller_syndrome,,,,,,C537889,Q87.1, 10135,pfeiffer_rockelein_syndrome,,,,,,,, 10136,pfeiffer_tietze_welte_syndrome,,,,,,,, 10137,phace_syndrome,,,,,,,Q87.8, 10138,phacomatosis_pigmentokeratotica,phacomatosis_pigmentokeratotica,,,,,,, 10139,phacomatosis_pigmentovascularis,phacomatosis_pigmentovascularis,,,,,,Q85.8, 10140,phaver_syndrome,,,,,,,, 10141,phenobarbital_antenatal_infection,,,,,,,Q86.8, 10142,pheochromocytoma_childhood,,,,,,,, 10143,pheochromocytoma_islet_cell_tumor_syndrome,,,,,,,, 10144,philadelphia_negative_chronic_myeloid_leukemia,,,,,,,, 10145,phocomelia_ectrodactyly_deafness_sinus_arrhythmia,,,,,,,Q87.2, 10146,phocomelia_ectrodactyly_ear_malformation_deafness_and_sinus_arrhythmia,,,,,,,, 10147,phosphoglucomutase_deficiency_type_2,,,,,,,, 10148,phosphoglucomutase_deficiency_type_3,,,,,,,, 10149,phosphoglucomutase_deficiency_type_4,,,,,,,, 10150,phosphoglycerate_kinase_deficiency,phosphoglycerate_kinase,,,,,,D55.2,124335006 10151,phosphoglycerate_mutase_deficiency,phosphoglycerate_mutase,,,,,,E74.0, 10152,phosphomannoisomerase_deficiency,phosphomannoisomerase_deficiency,,,,,,, 10153,phosphoribosylpyrophosphate_synthetase_deficiency,,,,,,,, 10154,photosensitive_epilepsy,photosensitive_epilepsy,,,,,,, 10155,pibids_syndrome,,,,,,,, 10156,picardi_lassueur_little_syndrome,,,,,,,, 10157,piepkorn_karp_hickok_syndrome,,,,,,,, 10158,pierre_marie_cerebellar_ataxia,,,,,,,, 10159,pierre_robin_sequence,,,,,,,, 10160,pierre_robin_sequence_with_pectus_excavatum_and_rib_and_scapular_anomalies,,,,,,,, 10161,pierre_robin_syndrome_skeletal_dysplasia_polydactyly,,,,,,,, 10162,pierson_syndrome,,,,,,,, 10163,pigment_dispersion_syndrome_2,pigment_dispersion_syndrome,,,,,,, 10164,pigmentary_retinopathy,pigmentary_retinopathy,,,,,,, 10165,pigmented_purpuric_eruption,,,,,,,, 10166,pili_annulati,pili_annulati,,,,,C537187,Q84.1,21926007 10167,pili_multigemini,pili_multigemini,,,,,,, 10168,pili_torti,pili_torti,,,,,,Q84.1,17170005 10169,pili_torti_developmental_delay_neurological_abnormalities,,,,,,C537398,, 10170,pili_torti_onychodysplasia,,,,,,C537399,, 10171,pillay_syndrome,,,,,,,Q87.8, 10172,pilo_dento_ungular_dysplasia_microcephaly,,,,,,,, 10173,pilocytic_astrocytoma,pilocytic_astrocytoma,,,,,,, 10174,pilodental_dysplasia_with_refractive_errors,,,,,,,, 10175,pilotto_syndrome,,,,,,C537400,, 10176,pineal_cyst,,,,,,,, 10177,pineoblastoma_childhood,,,,,,,, 10178,pineocytoma,,,,,,,, 10179,pinheiro_freire_maia_miranda_syndrome,,,,,,,, 10180,piriformis_syndrome,piriformis_syndrome,,,,,,, 10181,pituitary_dwarfism_with_large_sella_turcica,,,,,,,, 10182,pituitary_hormone_deficiency_combined_1,,,,,,,, 10183,pituitary_hormone_deficiency_combined_2,,,,,,,E23.0,32390006 10184,pituitary_hormone_deficiency_combined_3,,,,,,,, 10185,pituitary_hormone_deficiency_combined_4,,,,,,,, 10186,pityriasis_lichenoides,pityriasis_lichenoides,,,,,,, 10187,pityriasis_lichenoides_chronica,pityriasis_lichenoides_chronica,,,,L41.1,,, 10188,pityriasis_lichenoides_et_varioliformis_acuta,pityriasis_lichenoides_et_varioliformis_acuta,,,,L41.0,,, 10189,pityriasis_rotunda,pityriasis_rotunda,,,,,,, 10190,piussan_lenaerts_mathieu_syndrome,,,,,,,, 10191,plagiocephaly,plagiocephaly,,,,Q67.3,,, 10192,plagiocephaly_and_x_linked_mental_retardation,,,,,,,, 10193,plasma_cell_leukemia,plasma_cell_leukemia,,,,C90.1,,, 10194,plasmalogens_synthesis_deficiency_isolated,,,,,,,, 10195,plasminogen_activator_inhibitor_type_1_deficiency,,,,,,,D68.8, 10196,platyspondylic_lethal_skeletal_dysplasia_torrance_type,,,,,,,, 10197,pleoconial_myopathy_with_salt_craving,,,,,,,, 10198,pleomorphic_malignant_fibrous_histiocytoma,,,,,,,, 10199,plexosarcoma,plexosarcoma,,,,,,, 10200,plummer_vinson_syndrome,plummer-vinson_syndrome,,,,D50.1,D011004,D50.1,80126007 10201,pneumocystic_carinii_pneumonia,,,,,,,, 10202,podder_tolmie_syndrome,,,,,,,, 10203,poikiloderma_with_neutropenia,,,,,,,D82.8, 10204,pointer_syndrome,,,,,,,, 10205,polyarticular_onset_juvenile_idiopathic_arthritis,,,,,,,M08.3|M08.0, 10206,polycystic_bone_disease,,,,,,,, 10207,polycystic_kidney_disease_type_1,,,,,,,, 10208,polycystic_kidney_disease_type_2,,,,,,,, 10209,polycystic_kidney_disease_type_3,,,,,,,, 10210,polycystic_kidneys_severe_infantile_with_tuberous_sclerosis,,,,,,,, 10211,polydactyly_cleft_lip_palate_psychomotor_retardation,,,,,,,, 10212,polydactyly_myopia_syndrome,,,,,,,Q87.2, 10213,polydactyly_postaxial_dental_and_vertebral,,,,,,,, 10214,polydactyly_preaxial_type_1,,,,,,,, 10215,polydactyly_preaxial_type_4,,,,,,,Q70.4,81330005|84598000 10216,polydactyly_syndrome_middle_ray_duplication,,,,,,,, 10217,polyembryoma,polyembryoma,,,,,,,28325008 10218,polymicrogyria_turricephaly_hypogenitalism,,,,,,,, 10219,polymorphic_reticulosis,,,,,,,, 10220,polymorphous_low_grade_adenocarcinoma,polymorphous_low-grade_adenocarcinoma,,,,,,, 10221,polymyositis,polymyositis,,,,M33.2,D017285,M33.2,31384009 10222,polyneuropathy_mental_retardation_acromicria_premature_menopause,,,,,,,, 10223,polyomavirus_allograft_nephropathy,,,,,,,, 10224,polyosteolysis_hyperostosis_syndrome,,,,,,,, 10225,polyostotic_osteolytic_dysplasia_hereditary_expansile,,,,,,C536335,M89.5,254153009 10226,polysyndactyly_cardiac_malformation,,,,,,,Q87.8, 10227,polysyndactyly_trigonocephaly_agenesis_of_corpus_callosum,,,,,,,, 10228,poncet_spieglers_cylindroma,,,,,,,, 10229,pontine_hemorrhage,,,,,,,, 10230,pontine_tegmental_cap_dysplasia,,,,,,,Q04.8, 10231,pontocerebellar_hypoplasia,pontocerebellar_hypoplasia,,,,,,, 10232,pontocerebellar_hypoplasia_type_1,,,,,,C548069,Q04.3, 10233,pontocerebellar_hypoplasia_type_2,,,,,,,, 10234,pontocerebellar_hypoplasia_type_3,,,,,,C548072,Q04.3, 10235,pontocerebellar_hypoplasia_type_4,,,,,,C536716,Q04.3, 10236,pontocerebellar_hypoplasia_type_5,,,,,,,Q04.3, 10237,pontocerebellar_hypoplasia_type_6,,,,,,C548074,Q04.3, 10238,pontoneocerebellar_hypoplasia,,,,,,,, 10239,popliteal_pterygium_syndrome,popliteal_pterygium_syndrome,,,,,,Q87.2, 10240,popliteal_pterygium_syndrome_lethal_type,,,,,,,Q87.2, 10241,porencephaly,porencephaly,,,,,C536850,Q04.6, 10242,porencephaly_cerebellar_hypoplasia_internal_malformations,,,,,,,, 10243,porokeratosis_of_mibelli,,,,,,,Q82.8,80432009 10244,porokeratosis_plantaris_palmaris_et_disseminata,porokeratosis_palmaris_et_plantaris_disseminata,,,,,,Q82.8, 10245,porokeratosis_disseminated_superficial_actinic_1,,,,,,,Q82.8,41495000 10246,porokeratosis_disseminated_superficial_actinic_2,,,,,,,, 10247,portal_hypertension_due_to_infrahepatic_block,,,,,,,, 10248,positive_rheumatoid_factor_polyarthritis,,,,,,,, 10249,posner_schlossman_syndrome,,,,,,,, 10250,post_infectious_myocarditis,,,,,,,, 10251,post_streptococcal_neurologic_disorders,,,,,,,, 10252,post_transplant_lymphoproliferative_disease,post-transplant_lymphoproliferative_disease,,,,,,D47.9,254290004 10253,post_traumatic_epilepsy,,,,,,,, 10254,postaxial_polydactyly_mental_retardation,,,,,,,, 10255,posterior_column_ataxia,,,,,,,, 10256,posterior_column_ataxia_with_retinitis_pigmentosa,,,,,,C536343,H35.5|G11.1, 10257,posterior_urethral_valves,,,,,,,, 10258,posterior_valve_urethra,posterior_valve_urethra,,,,,,, 10259,postorgasmic_illness_syndrome,postorgasmic_illness_syndrome,,,,,,, 10260,postural_orthostatic_tachycardia_syndrome,postural_orthostatic_tachycardia_syndrome,,,,,,, 10261,potassium_aggravated_myotonia,potassium-aggravated_myotonia,,,,,,, 10262,potato_nose,,,,,,,, 10263,potocki_lupski_syndrome,,,,,,,, 10264,potocki_shaffer_syndrome,,,,,Q93.7|Q93.9,C538356,Q93.5, 10265,potter_syndrome_type_1,,,,,,,, 10266,potter_syndrome_type_2,,,,,,,, 10267,potter_syndrome_type_3,,,,,,,, 10268,potter_syndrome_type_4,,,,,,,, 10269,powell_buist_stenzel_syndrome,,,,,,,, 10270,ppm_x_syndrome,,,,,,,F71.1, 10271,prader_willi_habitus_osteopenia_and_camptodactyly,,,,,,,Q87.8, 10272,prata_liberal_goncalves_syndrome,,,,,,C538180|C538277,, 10273,preauricular_sinus,preauricular_sinus,,,,,,, 10274,preaxial_deficiency_postaxial_polydactyly_and_hypospadias,,,,,,C538278,Q87.2, 10275,precocious_epileptic_encephalopathy,,,,,,,, 10276,precocious_myoclonic_encephalopathy,,,,,,,, 10277,precocious_puberty,,,,,,,, 10278,precocious_puberty_gonadotropin_dependent,,,,,,,, 10279,preeyasombat_varavithya_syndrome,,,,,,C535269,, 10280,prekallikrein_deficiency_congenital,,,,,,,, 10281,premature_aging_okamoto_type,,,,,,,, 10282,premature_atherosclerosis_with_photomyoclonic_epilepsy_deafness_diabetes_mellitus_nephropathy_an,,,,,,,, 10283,premature_ovarian_failure_familial,,,,,,,, 10284,presenile_dementia_kraepelin_type,,,,,,,, 10285,prieto_x_linked_mental_retardation_syndrome,,,,,,,, 10286,primary_agammaglobulinemia,primary_agammaglobulinemia,,,,Y59.3,,, 10287,primary_angiitis_of_the_central_nervous_system,,,,,,C535276|D020293,I67.7,230733004 10288,primary_basilar_impression,,,,,,,Q75.8, 10289,primary_cortisol_resistance,,,,,,,, 10290,primary_effusion_lymphoma,primary_effusion_lymphoma,,,,,D054685,C83.8,128800006 10291,primary_familial_xanthomatosis_with_involvement_and_calcification_of_the_adrenal_galnds,,,,,,,, 10292,primary_gastrointestinal_melanoma,,,,,,,, 10293,primary_hyperoxaluria_type_3,,,,,,,E74.8, 10294,primary_malignant_lymphoma,,,,,,,, 10295,primary_malignant_melanoma_of_the_cervix,,,,,,,, 10296,primary_malignant_melanoma_of_the_conjunctiva,,,,,,,, 10297,primary_open_angle_glaucoma_juvenile_onset_1,,,,,,,, 10298,primary_orthostatic_tremor,,,,,,C536418,, 10299,primary_pigmented_nodular_adrenocortical_disease,,,,,,,, 10300,primary_progressive_aphasia,primary_progressive_aphasia,,,,,D018888,G31.0, 10301,primary_release_disorder_of_platelets,,,,,,,, 10302,primary_sclerosing_cholangitis,primary_sclerosing_cholangitis,,,,,C536419,K83.0,197441003 10303,primary_tubular_proximal_acidosis,primary_tubular_proximal_acidosis,,,,,,, 10304,primrose_syndrome,primrose_syndrome,,,,,,, 10305,prinzmetals_variant_angina,prinzmetals_angina,,,,,,, 10306,procarcinoma,,,,,,,, 10307,proconvertin_deficiency_congenital,,,,,,,, 10308,progeria_variant_syndrome_ruvalcaba_type,,,,,,,, 10309,progeroid_short_stature_with_pigmented_nevi,,,,,,,, 10310,progeroid_syndrome_petty_type,,,,,,,, 10311,progeroid_syndrome_penttinen_type,,,,,,,, 10312,prognathism_mandibular,,,,,,,, 10313,progressive_bifocal_chorioretinal_atrophy,,,,,,C535356,, 10314,progressive_black_carbon_hyperpigmentation_of_infancy,,,,,,,, 10315,progressive_familial_heart_block_type_1a,,,,,,,, 10316,progressive_familial_heart_block_type_1b,,,,,,,, 10317,progressive_familial_heart_block_type_2,,,,,,,, 10318,progressive_hemifacial_atrophy,progressive_hemifacial_atrophy,,,,,,G51.8, 10319,progressive_kinking_of_the_hair_acquired,,,,,,,, 10320,progressive_non_fluent_aphasia,progressive_nonfluent_aphasia,,,,,,, 10321,progressive_osseous_heteroplasia,progressive_osseous_heteroplasia,,,,,,M61.5, 10322,progressive_pseudorheumatoid_arthropathy_of_childhood,,,,,,C535387,Q77.7, 10323,progressive_supranuclear_palsy_atypical,,,,,,C537240,G23.1, 10324,progressive_transformation_of_germinal_centers,progressive_transformation_of_germinal_centers,,,,,,, 10325,prolerating_trichilemmal_cyst,,,,,,,, 10326,prolidase_deficiency,prolidase_deficiency,,,,,D056732,E72.8,360994007|361010007|410055005 10327,proopiomelanocortin_deficiency,,,,,,,, 10328,properdin_deficiency,properdin_deficiency,,,,,,, 10329,properdin_deficiency_x_linked,,,,,,C537241,D84.1,81166004 10330,propriospinal_myoclonus,,,,,,,, 10331,prosencephaly_cerebellar_dysgenesis,,,,,,,, 10332,prosopagnosia_hereditary,,,,,,,, 10333,prostaglandin_endoperoxide_synthase_deficiency,,,,,,,, 10334,prostatic_malacoplakia_associated_with_prostatic_abscess,,,,,,,, 10335,prostatic_stromal_proliferation_of_uncertain_malignant_potential,,,,,,,, 10336,protein_r_deficiency,,,,,,,, 10337,proud_levine_carpenter_syndrome,,,,,,,, 10338,proximal_chromosome_18q_deletion_syndrome,,,,,,,, 10339,proximal_spinal_muscular_atrophy,,,,,,,G12.0|G12.1, 10340,prune_belly_syndrome,prune_belly_syndrome,,,,Q79.4,C536477|D011535,Q79.4,5187006|18241005 10341,prurigo_nodularis,prurigo_nodularis,,,,L28.1,,, 10342,pruritic_urticarial_papules_plaques_of_pregnancy,pruritic_urticarial_papules_and_plaques_of_pregnancy,,,,,C535817,O26.8,88697005 10343,pseudo_pelger_huet_anomaly,,,,,,,, 10344,pseudo_turner_syndrome,,,,,,,, 10345,pseudo_von_willebrand_disease,,,,,,,D69.8,128115005 10346,pseudoachondroplastic_dysplasia_2,,,,,,,, 10347,pseudoainhum,pseudoainhum,,,,,,, 10348,pseudoaminopterin_syndrome,,,,,,,Q82.0, 10349,pseudoangiomatous_stromal_hyperplasia,pseudoangiomatous_stromal_hyperplasia,,,,,,, 10350,pseudoarylsulfatase_a_deficiency,,,,,,,, 10351,pseudocholinesterase_deficiency,pseudocholinesterase_deficiency,,,,,C537417,,360589003 10352,pseudodiastrophic_dysplasia,,,,,,C535826,Q78.8,254058002 10353,pseudohermaphrodism_anorectal_anomalies,,,,,,,, 10354,pseudohyperkalemia_cardiff,,,,,,,, 10355,pseudohypoparathyroidism_type_1b,,,,,,C548075,E20.1, 10356,pseudohypoparathyroidism_type_1c,,,,,,C548076,E20.1, 10357,pseudohypoparathyroidism_type_2,,,,,,C548077,E20.1,42183005 10358,pseudoinflammatory_fundus_dystrophy,,,,,,,H35.5,193410003 10359,pseudomarfanism,,,,,,,, 10360,pseudomonas_stutzeri_infections,,,,,,,, 10361,pseudomongolism,,,,,,,, 10362,pseudomyotonia,,,,,,,, 10363,pseudoneonatal_adrenoleukodystrophy,,,,,,C536662,E71.3,238069004 10364,pseudopapilledema_blepharophimosis_hand_anomalies,,,,,,,, 10365,pseudopelade_of_brocq,,,,,,C531609,L66.0,238731001 10366,pseudopolycythaemia,,,,,,,, 10367,pseudoprogeria_syndrome,,,,,,,, 10368,pseudotrisomy_13_syndrome,,,,,,,, 10369,pseudoxanthoma_elasticum_dominant_form,,,,,,,, 10370,pseudoxanthoma_elasticum_forme_fruste,,,,,,D011561,Q82.8,252246005 10371,pseudoxanthoma_elasticum_recessive_form,,,,,,,, 10372,psoriatic_juvenile_idiopathic_arthritis,,,,,,,, 10373,pterigium_colli,,,,,,,, 10374,pterygia_mental_retardation_and_distinctive_craniofacial_features,,,,,,,, 10375,pterygium_colli_mental_retardation_digital_anomalies,,,,,,,, 10376,pterygium_of_the_conjunctiva_and_cornea,,,,,,,, 10377,ptosis_coloboma_mental_retardation,,,,,,,, 10378,ptosis_strabismus_diastasis,,,,,,,, 10379,ptosis_strabismus_ectopic_pupils,,,,,,,, 10380,pudendal_neuralgia,pudendal_neuralgia,,,,,,, 10381,pulmonary_alveolar_proteinosis_acquired,,,,,,,, 10382,pulmonary_arterio_veinous_fistula,,,,,,,Q25.7, 10383,pulmonary_arteriovenous_malformation,,,,,,,, 10384,pulmonary_artery_agenesis,,,,,,,, 10385,pulmonary_artery_coming_from_the_aorta,,,,,,,Q25.7, 10386,pulmonary_artery_familial_dilatation,,,,,,,, 10387,pulmonary_artery_isolated_unilateral_absence_of_isolated_uapa,,,,,,,, 10388,pulmonary_artery_unilateral_absence_of_uapa,,,,,,,, 10389,pulmonary_atresia_with_intact_ventricular_septum,,,,,,,Q22.6,253590009 10390,pulmonary_atresia_with_ventricular_septal_defect,,,,,,,Q25.5,253591008 10391,pulmonary_branches_stenosis,,,,,,,Q25.6, 10392,pulmonary_edema_of_mountaineers,pulmonary_edema_of_mountaineers,,,,,,, 10393,pulmonary_hyalinizing_granuloma,,,,,,,, 10394,pulmonary_hypoplasia_familial_primary,,,,,,,Q33.6, 10395,pulmonary_sequestration,pulmonary_sequestration,,,,,,, 10396,pulmonary_supravalvular_stenosis,,,,,,,Q22.1, 10397,pulmonary_surfactant_protein_b_deficiency_of,,,,,,,, 10398,pulmonary_valves_agenesis,,,,,,,, 10399,pulmonary_vein_stenosis,,,,,,,, 10400,pulmonary_venous_return_anomaly,,,,,,D012587,Q26.8,39905002 10401,pulmonic_stenosis,pulmonic_stenosis,,,,,,, 10402,punctate_acrokeratoderma_freckle_like_pigmentation,,,,,,,, 10403,punctate_inner_choroidopathy,,,,,,,, 10404,punctate_porokeratosis,punctate_porokeratosis,,,,,,, 10405,pure_autonomic_failure,pure_autonomic_failure,,,,I95.1,C544351|D054970,G90.3,84438001 10406,purpura_simplex,,,,,,,, 10407,pyknoachondrogenesis,,,,,,C536251,Q77.0, 10408,pyogenic_arthritis_pyoderma_gangrenosum_and_acne,,,,,,,, 10409,pyogenic_granuloma,pyogenic_granuloma,,,,L98.0,,, 10410,pyridoxal_5_phosphate_dependent_epilepsy,,,,,,,, 10411,pyridoxine_deficiency,pyridoxine_deficiency,,,,E53.1,,, 10412,pyropoikilocytosis_hereditary,hereditary_pyropoikilocytosis,,,,,,, 10413,pyruvate_dehydrogenase_phosphatase_deficiency,pyruvate_dehydrogenase_phosphatase,,,,,,E74.4, 10414,pyruvate_kinase_deficiency,pyruvate_kinase_deficiency,,,,,,D55.2, 10415,pyruvate_kinase_deficiency_liver_type,,,,,,,, 10416,pyruvate_kinase_deficiency_muscle_type,,,,,,,, 10417,quebec_platelet_disorder,quebec_platelet_disorder,,,,,C536260,D69.1, 10418,quinquauds_decalvans_folliculitis,,,,,L66.2,,L66.2, 10419,rabson_mendenhall_syndrome,,,,,,D056731,E13,33559001 10420,radial_defect_robin_sequence,,,,,,,, 10421,radial_hypoplasia_triphalangeal_thumbs_and_hypospadias,,,,,,,, 10422,radial_ray_agenesis,,,,,,,, 10423,radial_ray_hypoplasia_choanal_atresia,,,,,,C536263|C537280,,232373003 10424,radiation_induced_angiosarcoma_of_the_breast,,,,,,,, 10425,radiation_induced_brachial_plexopathy,,,,,,,, 10426,radiation_induced_cancer,radiation-induced_cancer,,,,,,, 10427,radiation_induced_meningioma,,,,,,,, 10428,radio_renal_syndrome,,,,,,C536267,, 10429,radio_digito_facial_dysplasia,,,,,,,, 10430,radio_ulnar_synostosis_type_1,,,,,,,, 10431,radio_ulnar_synostosis_type_2,,,,,,,, 10432,radioulnar_synostosis_retinal_pigment_abnormalities,,,,,,,, 10433,radioulnar_synostosis_with_microcephaly_short_stature_scoliosis_and_mental_retardation,,,,,,,, 10434,radius_absent_anogenital_anomalies,,,,,,C535281,, 10435,raine_syndrome,raine_syndrome,,,,,,Q78.2, 10436,ramer_ladda_syndrome,,,,,,,Q74.0, 10437,ramon_syndrome,,,,,,C535285,Q87.8, 10438,ramos_arroyo_clark_syndrome,,,,,,,, 10439,rapp_hodgkin_syndrome,,,,,,C535289,,7731005 10440,rasmussen_encephalitis,,,,,,,, 10441,rasmussen_johnsen_thomsen_syndrome,,,,,,C535290,, 10442,rat_bite_fever,rat-bite_fever,,,,A25,D011906,A25,1685005 10443,reactive_angioendotheliomatosis,reactive_angioendotheliomatosis,,,,,,, 10444,reardon_wilson_cavanagh_syndrome,,,,,,,, 10445,recessive_developmental_delay_small_stature_microcephaly_and_brain_calcifications,,,,,,,, 10446,recombinant_chromosome_8_syndrome,,,,,,,, 10447,rectal_cancer_childhood,,,,,,,, 10448,recurrent_peripheral_facial_palsy,,,,,,,, 10449,recurrent_respiratory_papillomatosis,recurrent_respiratory_papillomatosis,,,,,C535297,, 10450,red_cell_phospholipid_defect_with_hemolysis,,,,,,,, 10451,red_skin_pigment_anomaly_of_new_guinea,,,,,,,, 10452,reductional_transverse_limb_defects,,,,,,,, 10453,reed_syndrome,,,,,,,D23, 10454,reese_retinal_dysplasia,,,,,,,, 10455,refractory_cytopenia_with_unilineage_dysplasia,,,,,,,, 10456,refsum_disease_with_increased_pipecolic_acidemia,,,,,G60.1,,, 10457,refsum_disease_infantile_form,,,,,,,, 10458,reginato_shiapachasse_syndrome,,,,,,,, 10459,renal_adysplasia_dominant_type,,,,,,,, 10460,renal_agenesis_meningomyelocele_mullerian_defect,,,,,,,, 10461,renal_caliceal_diverticuli_deafness,,,,,,,, 10462,renal_cell_carcinoma_4,,,,,,,, 10463,renal_dysplasia_diffuse_autosomal_recessive,,,,,,,, 10464,renal_dysplasia_diffuse_cystic,,,,,,,, 10465,renal_dysplasia_megalocystis_sirenomelia,,,,,,,, 10466,renal_dysplasia_retinal_pigmentary_dystrophy_cerebellar_ataxia_and_skeletal_dysplasia,,,,,,C535463,Q87.5, 10467,renal_dysplasia_limb_defects_syndrome,renal_dysplasia-limb_defects_syndrome,,,,,,Q87.8, 10468,renal_genital_middle_ear_anomalies,,,,,,,Q87.8, 10469,renal_hamartomas_nephroblastomatosis_and_fetal_gigantism,renal_hamartomas,,,,,,Q87.3, 10470,renal_hypouricemia,,,,,,,, 10471,renal_pelvis_and_ureter_transitional_cell_cancer,,,,,,,, 10472,renal_tubular_acidosis_progressive_nerve_deafness,,,,,,,, 10473,renal_tubular_acidosis_distal,distal_renal_tubular_acidosis,,,,,,, 10474,renal_tubular_acidosis_distal_autosomal_dominant,,,,,,,, 10475,renal_tubular_acidosis_distal_autosomal_recessive,,,,,,,N25.8, 10476,renal_tubular_acidosis_distal_type_3,,,,,,,, 10477,renal_tubular_acidosis_distal_type_4,,,,,,,, 10478,renal_tubular_dysgenesis,,,,,,,Q63.8, 10479,renal_tubulopathy_diabetes_mellitus_and_cerebellar_ataxia_due_to_duplication_of_mitochondrial_dna,,,,,,,Q87.8, 10480,renier_gabreels_jasper_syndrome,,,,,,,, 10481,renoanogenital_syndrome,,,,,,,, 10482,renoprival_hypertension,,,,,,,, 10483,renpenning_syndrome_1,,,,,,,, 10484,resistance_to_lh_luteinizing_hormone,,,,,,,, 10485,respiratory_distress_syndrome_infant,,,,,,,, 10486,restless_legs_syndrome_susceptibility_to_1,,,,,,,, 10487,restless_legs_syndrome_susceptibility_to_2,,,,,,,, 10488,restless_legs_syndrome_susceptibility_to_3,,,,,,,, 10489,restless_legs_syndrome_susceptibility_to_4,,,,,,,, 10490,restless_legs_syndrome_susceptibility_to_5,,,,,,,, 10491,restless_legs_syndrome_susceptibility_to_6,,,,,,,, 10492,retinal_cone_dystrophy_1,,,,,,,, 10493,retinal_cone_dystrophy_2,,,,,,,, 10494,retinal_cone_dystrophy_3a,,,,,,,, 10495,retinal_cone_dystrophy_3b,,,,,,,H35.5, 10496,retinal_cone_dystrophy_4,,,,,,,, 10497,retinal_degeneration_with_nanophthalmos_cystic_macular_degeneration_and_angle_closure_glaucoma,,,,,,,, 10498,retinal_dysplasia_x_linked,,,,,,,Q14.1, 10499,retinal_telangiectasia_hypogammaglobulinemia,,,,,,,, 10500,retinis_pigmentosa_deafness_hypogenitalism,,,,,,,, 10501,retinitis_pigmentosa_11,,,,,,,, 10502,retinitis_pigmentosa_12,,,,,,,, 10503,retinitis_pigmentosa_13,,,,,,,, 10504,retinitis_pigmentosa_14,,,,,,,, 10505,retinitis_pigmentosa_15,,,,,,,, 10506,retinitis_pigmentosa_17,,,,,,,, 10507,retinitis_pigmentosa_18,,,,,,,, 10508,retinitis_pigmentosa_19,,,,,,,, 10509,retinitis_pigmentosa_2_x_linked,,,,,,,, 10510,retinitis_pigmentosa_20,,,,,,,, 10511,retinitis_pigmentosa_22,,,,,,,, 10512,retinitis_pigmentosa_23,,,,,,,, 10513,retinitis_pigmentosa_24,,,,,,,, 10514,retinitis_pigmentosa_25,,,,,,,, 10515,retinitis_pigmentosa_26,,,,,,,, 10516,retinitis_pigmentosa_28,,,,,,,, 10517,retinitis_pigmentosa_29,,,,,,,, 10518,retinitis_pigmentosa_3,,,,,,,, 10519,retinitis_pigmentosa_30,,,,,,,, 10520,retinitis_pigmentosa_31,,,,,,D012174,H35.5,28835009 10521,retinitis_pigmentosa_32,,,,,,,, 10522,retinitis_pigmentosa_33,,,,,,,, 10523,retinitis_pigmentosa_34,,,,,,,, 10524,retinitis_pigmentosa_35,,,,,,,, 10525,retinitis_pigmentosa_36,,,,,,,, 10526,retinitis_pigmentosa_4,,,,,,,, 10527,retinitis_pigmentosa_41,,,,,,,, 10528,retinitis_pigmentosa_6,,,,,,,, 10529,retinitis_pigmentosa_7,,,,,,,, 10530,retinitis_pigmentosa_9,,,,,,,, 10531,retinitis_pigmentosa_deafness_mental_retardation_and_hypogonadism,,,,,,,, 10532,retinochoroidal_coloboma,,,,,,,Q14.8, 10533,retinohepatoendocrinologic_syndrome,,,,,,,, 10534,retinopathy_anemia_cns_anomalies,,,,,,,, 10535,retinopathy_aplastic_anemia_neurological_abnormalities,,,,,,,, 10536,retinopathy_pigmentary_mental_retardation,,,,,,,, 10537,retinopathy_arteriosclerotic,,,,,,,, 10538,retinoschisis_autosomal_dominant,,,,,,,, 10539,retinoschisis_of_fovea,,,,,,,, 10540,retroperitoneal_fibrosis,retroperitoneal_fibrosis,,,,,D012185,M72.8,197808006|49120005 10541,retroperitoneal_liposarcoma,,,,,,,, 10542,reynolds_neri_hermann_syndrome,,,,,,,, 10543,reynolds_syndrome,reynolds_syndrome,,,,,,K74.5|L94.0, 10544,rhabditida_infections,,,,,,,, 10545,rhabdoid_tumor,rhabdoid_tumor,,,,,,, 10546,rhabdomyomatous_mesenchymal_hamartoma,,,,,,,, 10547,rheumatoid_nodulosis,rheumatoid_nodulosis,,,,M06.3,,, 10548,rheumatoid_vasculitis,rheumatoid_vasculitis,,,,M05.2,,, 10549,rhizomelic_chondrodysplasia_punctata_type_2,,,,,,,Q77.3, 10550,rhizomelic_chondrodysplasia_punctata_type_3,,,,,,,Q77.3, 10551,rhizomelic_dysplasia_patterson_lowry_type,,,,,,C537609,Q78.8, 10552,rhizomelic_dysplasia_scoliosis_and_retinitis_pigmentosa,,,,,,,, 10553,rhizomelic_pseudopolyarthritis,,,,,,,M31.6, 10554,rhizomelic_syndrome,,,,,,C537611,Q87.1, 10555,rhyns_syndrome,,,,,,C537612,, 10556,ribbing_disease,ribbing_disease,,,,,,, 10557,richards_rundle_syndrome,,,,,,C535674,G60.2, 10558,richieri_costa_da_silva_syndrome,,,,,,C535675,Q87.8, 10559,richieri_costa_guion_almeida_syndrome,,,,,,,, 10560,richieri_costa_orquizas_syndrome,,,,,,,, 10561,richieri_costa_pereira_syndrome,,,,,,C535677,Q87.8, 10562,richieri_costa_colletto_otto_syndrome,,,,,,,, 10563,richieri_costa_guion_almeida_cohen_syndrome,,,,,,,, 10564,right_atrium_familial_dilatation,,,,,,,, 10565,right_ventricle_hypoplasia,,,,,,,Q22.6, 10566,rigid_spine_syndrome,,,,,,,, 10567,ring_chromosome_1,,,,,,C535361,Q93.2,47017007 10568,ring_chromosome_10,,,,,,C538086,Q93.2,86997002 10569,ring_chromosome_11,,,,,,,Q93.2,111310003 10570,ring_chromosome_12,,,,,,,Q93.2, 10571,ring_chromosome_13,,,,,,C538303,Q93.2, 10572,ring_chromosome_14,ring_chromosome_14_syndrome,,,,,C535487,Q93.2, 10573,ring_chromosome_15,,,,,,C538035,Q93.2, 10574,ring_chromosome_16,,,,,,,Q93.2, 10575,ring_chromosome_17,,,,,,C538046,Q93.2, 10576,ring_chromosome_18,ring_18,,,,,C538304,Q93.2,88154004 10577,ring_chromosome_19,,,,,,,Q93.2, 10578,ring_chromosome_2,,,,,,,Q93.2, 10579,ring_chromosome_20,chromosome_20_ring,,,,,C535369,Q93.2,23686004 10580,ring_chromosome_21,,,,,,C537109,Q93.2,31325007 10581,ring_chromosome_22,,,,,,C536795,Q93.2,13555004 10582,ring_chromosome_3,,,,,,,Q93.2, 10583,ring_chromosome_4,,,,,,C537636,Q93.2,81678004 10584,ring_chromosome_5,,,,,,,Q93.2, 10585,ring_chromosome_6,,,,,,C537763,Q93.2, 10586,ring_chromosome_7,,,,,,C537813,Q93.2, 10587,ring_chromosome_8,,,,,,C537824,Q93.2, 10588,ring_chromosome_9,,,,,,C538022,Q93.2,60650002 10589,ring_dermoid_of_cornea,,,,,,C535684,D31.1, 10590,rippling_muscle_disease,,,,,,C535685,G71.8, 10591,rippling_muscle_disease_1,,,,,,,, 10592,robin_sequence_and_oligodactyly,robin_sequence_and_oligodactyly,,,,,C535688,, 10593,robinow_sorauf_syndrome,,,,,,C537183,Q87.0, 10594,robinow_syndrome,robinow_syndrome,,,,,,, 10595,robinson_miller_bensimon_syndrome,,,,,,,, 10596,roch_leri_mesosomatous_lipomatosis,,,,,,,E88.2, 10597,rod_myopathy,rod_myopathy,,,,,,, 10598,rodini_richieri_costa_syndrome,,,,,,,, 10599,rodrigues_blindness,,,,,,,, 10600,rohhad,rohhad,,,,,,, 10601,roifman_syndrome,,,,,,,, 10602,rokitansky_sequence,,,,,,,, 10603,rokitansky_aschoff_sinuses_of_the_gallbladder,,,,,,,, 10604,rombo_syndrome,rombo_syndrome,,,,,C535870,, 10605,rommen_mueller_sybert_syndrome,,,,,,,, 10606,rosai_dorfman_disease,,,,,,,D76.3,34287003 10607,rowley_rosenberg_syndrome,,,,,,,, 10608,roy_maroteaux_kremp_syndrome,,,,,,,, 10609,rozin_hertz_goodman_syndrome,,,,,,,, 10610,rubinstein_taybi_like_syndrome,,,,,,,, 10611,rud_syndrome,rud_syndrome,,,,,,, 10612,rudd_klimek_syndrome,,,,,,,, 10613,rufous_oculocutaneous_albinism,,,,,,,, 10614,rutherfurd_syndrome,,,,,,,, 10615,ruvalcaba_churesigaew_myhre_syndrome,,,,,,,, 10616,ruvalcaba_syndrome,,,,,,,Q87.8,3073006 10617,ruzicka_goerz_anton_syndrome,,,,,,,, 10618,saal_bulas_syndrome,,,,,,,, 10619,sabinas_brittle_hair_syndrome,sabinas_brittle_hair_syndrome,,,,,,, 10620,saccharopinuria,saccharopinuria,,,,,C537218,E72.3,111397004 10621,sackey_sakati_aur_syndrome,,,,,,,, 10622,sacral_defect_with_anterior_meningocele,,,,,,,, 10623,sacral_hemangiomas_multiple_congenital_abnormalities,,,,,,,, 10624,sacral_meningocele_conotruncal_heart_defects,,,,,,,Q87.8, 10625,sacral_plexopathy,sacral_plexopathy,,,,,,, 10626,sacrococcygeal_teratoma,sacrococcygeal_teratoma,,,,,,, 10627,saito_kuba_tsuruta_syndrome,,,,,,,Q87.8, 10628,sakati_syndrome,sakati_syndrome,,,,,,Q87.0, 10629,sakoda_complex,,,,,,,, 10630,salcedo_syndrome,,,,,,,,236527004 10631,salivary_gland_cancer_adult,,,,,,,, 10632,salivary_gland_cancer_childhood,,,,,,,, 10633,salla_disease,salla_disease,,,,,,E77.8, 10634,sallis_beighton_syndrome,,,,,,,, 10635,sammartino_decreccio_syndrome,,,,,,,, 10636,samson_gardner_syndrome,,,,,,,, 10637,samson_viljoen_syndrome,,,,,,,, 10638,sanderson_fraser_syndrome,,,,,,,, 10639,sandhaus_ben_ami_syndrome,,,,,,,, 10640,sandifer_syndrome,sandifer_syndrome,,,,,C537234,,230314007 10641,santos_mateus_leal_syndrome,,,,,,,Q43.1, 10642,sarcosinemia,sarcosinemia,,,,,C537236,E72.5,64852002 10643,satoyoshi_syndrome,satoyoshi_syndrome,,,,,C536616,, 10644,saul_wilkes_stevenson_syndrome,,,,,,,, 10645,say_barber_miller_syndrome,,,,,,C536618,Q87.8, 10646,say_carpenter_syndrome,,,,,,,, 10647,say_meyer_syndrome,,,,,,,Q87.0, 10648,say_syndrome,say_syndrome,,,,,,, 10649,say_field_coldwell_syndrome,,,,,,C536619,Q74.8, 10650,scalp_defects_postaxial_polydactyly,,,,,,C536622,Q87.2, 10651,scalp_ear_nipple_syndrome,scalp-ear-nipple_syndrome,,,,,C536623,Q87.8, 10652,scaphotrapeziotrapezoid_arthrodesis,,,,,,,, 10653,scapuloperoneal_syndrome_neurogenic_kaeser_type,,,,,,,G12.1, 10654,scarf_syndrome,,,,,,C536625,Q82.8, 10655,schaap_taylor_baraitser_syndrome,,,,,,,, 10656,schaefer_stein_oshman_syndrome,,,,,,,, 10657,schimke_x_linked_mental_retardation_syndrome,,,,,,,, 10658,schindler_disease_type_1,,,,,,,E77.1,238048001 10659,schinzel_giedion_syndrome,,,,,,,Q87.0, 10660,schisis_association,,,,,,C536633,Q87.8, 10661,schizencephaly,schizencephaly,,,,,,Q04.6,253159001 10662,schizophrenia_mental_retardation_deafness_retinitis,,,,,,,, 10663,schizotaxia,,,,,,,, 10664,schlegelberger_grote_syndrome,,,,,,,, 10665,schmitt_gillenwater_kelly_syndrome,schmitt_gillenwater_kelly_syndrome,,,,,,Q87.2, 10666,scholte_syndrome,,,,,,,, 10667,schrander_stumpel_theunissen_hulsmans_syndrome,,,,,,,, 10668,schroer_hammer_mauldin_syndrome,,,,,,,, 10669,schwartz_cohen_addad_lambert_syndrome,,,,,,,, 10670,schwartz_jampel_syndrome_type_1,,,,,,,G71.1,29145002 10671,scleredema,scleredema,,,,,,, 10672,scleroatonic_muscular_dystrophy,,,,,,,, 10673,sclerocornea_syndactyly_ambiguous_genitalia,,,,,,,, 10674,scleromyxedema,scleromyxedema,,,,,D053718,L98.5,111197009|402468007 10675,sclerosing_bone_dysplasia_mental_retardation,,,,,,,, 10676,sclerotylosis,sclerotylosis,,,,L86,,, 10677,scoliosis_with_unilateral_unsegmented_bar,,,,,,,, 10678,scot_deficiency,,,,,,,E71.3,238004006 10679,scott_bryant_graham_syndrome,,,,,,,, 10680,scott_syndrome,scott_syndrome,,,,,,D69.8,128098009 10681,sea_blue_histiocytosis,sea-blue_histiocytosis,,,,,,, 10682,seaver_cassidy_syndrome,,,,,,,Q87.8, 10683,sebaceous_gland_hyperplasia_familial_presenile,,,,,,,, 10684,sebocystomatosis,sebocystomatosis,,,,,,, 10685,secernentea_infections,,,,,,,, 10686,seckel_like_syndrome_majoor_krakauer_type,,,,,,,, 10687,segawa_syndrome_autosomal_recessive,,,,,,,, 10688,segmentation_syndrome_1,,,,,Q76.1,,, 10689,seizures_benign_familial_neonatal_recessive_form,,,,,,,, 10690,seizures_mental_retardation_hair_dysplasia,,,,,,,, 10691,selenium_poisoning,,,,,,,, 10692,selig_benacerraf_greene_syndrome,,,,,,,Q87.8, 10693,semantic_dementia,semantic_dementia,,,,,,, 10694,semmekrot_haraldsson_weemaes_syndrome,,,,,,,, 10695,sener_syndrome,,,,,,,, 10696,sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis,,,,,,,, 10697,sensory_neuropathy_type_1,sensory_neuropathy_type_1,,,,,,, 10698,senter_syndrome,senter_syndrome,,,,,,, 10699,seow_najjar_syndrome,,,,,,,, 10700,sepiapterin_reductase_deficiency,sepiapterin_reductase_deficiency,,,,,,, 10701,septo_optic_dysplasia,septo-optic_dysplasia,,,,Q04.4,D025962,Q04.8|E23.0,7611002 10702,sequeiros_sack_syndrome,,,,,,,, 10703,seres_santamaria_arimany_muniz_syndrome,,,,,,,, 10704,serkal_syndrome,serkal_syndrome,,,,,,, 10705,serpentine_fibula_polycystic_kidney_syndrome,serpentine_fibula-polycystic_kidney_syndrome,,,,,C537586,, 10706,serpiginous_choroiditis,serpiginous_choroiditis,,,,,,,312491004 10707,sesame_syndrome,,,,,,,, 10708,severe_combined_immunodeficiency_with_sensitivity_to_ionizing_radiation,,,,,,,, 10709,severe_combined_immunodeficiency_atypical,,,,,,,, 10710,severe_congenital_neutropenia_autosomal_dominant,,,,,,,, 10711,severe_congenital_neutropenia_autosomal_recessive_3,,,,,,,D70, 10712,severe_congenital_neutropenia_x_linked,,,,,,,D70, 10713,severe_generalized_recessive_dystrophic_epidermolysis_bullosa,,,,,,,, 10714,severe_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive,,,,,,,, 10715,severe_infantile_axonal_neuropathy,,,,,,,, 10716,severe_mental_retardation_and_absent_nails_of_hallux_and_pollex,,,,,F72|F72.0|F72.9,,, 10717,shapiro_syndrome,shapiro_syndrome,,,,,,G90.8, 10718,sharp_syndrome,sharp_syndrome,,,,,,, 10719,shavers_disease,,,,,,,, 10720,shith_filkins_syndrome,,,,,,,, 10721,short_broad_great_toe_macrocranium,,,,,,,, 10722,short_limb_dwarf_edema_iris_coloboma,,,,,,,, 10723,short_limb_dwarf_lethal_colavita_kozlowski_type,,,,,,,, 10724,short_limbs_abnormal_face_congenital_heart_disease,,,,,,,, 10725,short_limbs_subluxed_knees_cleft_palate,,,,,,,, 10726,short_rib_polydactyly_syndrome_type_3,,,,,,C537602,Q77.2,254051008 10727,short_rib_polydactyly_syndrome_type_2,short_rib-polydactyly_syndrome_type_2,,,,Q69|Q69.9,,, 10728,short_ribs_craniosynostosis_polysyndactyly,,,,,,,, 10729,short_stature_abnormal_skin_pigmentation_mental_retardation,,,,,,,, 10730,short_stature_contractures_hypotonia,,,,,,,, 10731,short_stature_cranial_hyperostosis_hepatomegaly,,,,,,,, 10732,short_stature_deafness_neutrophil_dysfunction,,,,,,,, 10733,short_stature_dysmorphic_face_pelvic_scapula_dysplasia,,,,,,,, 10734,short_stature_mental_retardation_eye_anomalies,,,,,,,, 10735,short_stature_microcephaly_seizures_deafness,,,,,,,, 10736,short_stature_monodactylous_ectrodactyly_cleft_palate,,,,,,,, 10737,short_stature_prognathism_short_femoral_necks,,,,,,,, 10738,short_stature_robin_sequence_cleft_mandible_hand_anomalies_clubfoot,,,,,,,, 10739,short_stature_syndrome_brussels_type,,,,,,C537121,Q87.1, 10740,short_stature_talipes_natal_teeth,,,,,,,, 10741,short_stature_valvular_heart_disease,,,,,,,, 10742,short_stature_with_optic_atrophy_and_pelger_huet_anomaly_syndrome,,,,,,,, 10743,short_stature_wormian_bones_dextrocardia,short_stature_wormian_bones_dextrocardia,,,,,,, 10744,short_stature_cranial_hyperostosis_hepatomegaly_and_diabetes,,,,,,,, 10745,short_syndrome,short_syndrome,,,,,C537327,Q87.1, 10746,shoulder_and_thorax_deformity_congenital_heart_disease,,,,,,,Q87.8, 10747,shoulder_girdle_defect_mental_retardation_familial,,,,,,,, 10748,shprintzen_omphalocele_syndrome,,,,,,,, 10749,sialidosis_type_i,,,,,,,E77.1, 10750,sialidosis_type_ii,,,,,,,, 10751,sialuria_french_type,,,,,,,, 10752,sickle_delta_beta_thalassemia,,,,,,,, 10753,sideroblastic_anemia_acquired,,,,,,,, 10754,sideroblastic_anemia_and_mitochondrial_myopathy,,,,,,,, 10755,sideroblastic_anemia_pyridoxine_responsive_autosomal_recessive,,,,,,,, 10756,siegler_brewer_carey_syndrome,,,,,,C537335,, 10757,silengo_lerone_pelizza_syndrome,,,,,,,, 10758,silicosiderosis,silicosiderosis,,,,,,, 10759,sillence_syndrome,,,,,,C537338,Q74.8, 10760,silvery_hair_syndrome,silvery_hair_syndrome,,,,,,, 10761,simian_b_virus_infection,,,,,,,, 10762,simosa_cranio_facial_syndrome,,,,,,,, 10763,simpson_golabi_behmel_syndrome,,,,,,,, 10764,sine_scleroderma,,,,,,,, 10765,singh_chhaparwal_dhanda_syndrome,,,,,,,, 10766,single_upper_central_incisor,,,,,,C537342,K00.2,8654005 10767,single_ventricular_heart,,,,,,,, 10768,singleton_merten_syndrome,,,,,,,, 10769,sinonasal_undifferentiated_carcinoma,sinonasal_undifferentiated_carcinoma,,,,,,, 10770,sinus_cancer,sinus_cancer,,,,,,, 10771,sinus_node_disease_and_myopia,,,,,,,, 10772,sirenomelia,sirenomelia,,,,,,, 10773,situs_inversus_totalis_with_cystic_dysplasia_of_kidneys_and_pancreas,,,,,,,, 10774,sjogrens_syndrome_juvenile_secondary_to_autoimmune_disease,,,,,,,, 10775,sjogren_larsson_like_syndrome,,,,,,,, 10776,skeletal_dysplasia_orofacial_anomalies,,,,,,,, 10777,skeletal_dysplasia_san_diego_type,,,,,,,, 10778,skeletal_dysplasias,skeletal_dysplasias,,,,,,, 10779,skeleto_cardiac_syndrome_with_thrombocytopenia,,,,,,,, 10780,skin_cancer_non_melanoma_childhood,,,,,,,, 10781,skin_fragility_woolly_hair_syndrome_2,,,,,,,Q82.8, 10782,slavotinek_pike_mills_hurst_syndrome,,,,,,,, 10783,slipped_capital_femoral_epiphysis,slipped_capital_femoral_epiphysis,,,,,,, 10784,slow_channel_congenital_myasthenic_syndrome,,,,,,,G70.2, 10785,slti_salem_syndrome,,,,,,,, 10786,small_cell_lung_cancer_childhood,,,,,,,, 10787,small_cell_lung_cancer_adult,,,,,,,, 10788,small_intestine_cancer_childhood,,,,,,,, 10789,small_non_cleaved_cell_lymphoma,,,,,,,, 10790,small_patella_syndrome,,,,,,,Q74.1, 10791,smith_mccort_dysplasia_2,,,,,,,Q77.7, 10792,smith_lemli_opitz_syndrome_type_1,,,,,,,, 10793,smith_lemli_opitz_syndrome_type_2,,,,,,,, 10794,snowflake_vitreoretinal_degeneration,,,,,,C536677,H35.5, 10795,snyder_robinson_syndrome,,,,,,,, 10796,soft_tissue_sarcoma,soft-tissue_sarcoma,,,,,,, 10797,soft_tissue_sarcoma_childhood,,,,,,,, 10798,sohval_soffer_syndrome,,,,,,,, 10799,sonoda_syndrome,,,,,,,, 10800,sosby_syndrome,,,,,,,, 10801,sparse_hair_ptosis_mental_retardation,,,,,,,, 10802,spasmodic_dysphonia,spasmodic_dysphonia,,,,R49.0,,E24.8, 10803,spastic_angina_with_healthy_coronary_artery,,,,,,,, 10804,spastic_diplegia_infantile_type,,,,,,C537481,G83.8, 10805,spastic_paraparesis,,,,,,,, 10806,spastic_paraplegia_1,,,,,,C536029,G11.4|Q04.8, 10807,spastic_paraplegia_10,,,,,,C537482,G11.4, 10808,spastic_paraplegia_12,,,,,,,, 10809,spastic_paraplegia_13,,,,,,C537485,G11.4, 10810,spastic_paraplegia_14,,,,,,,, 10811,spastic_paraplegia_15,spastic_paraplegia_15,,,,,C536642,G11.4, 10812,spastic_paraplegia_16,,,,,,,, 10813,spastic_paraplegia_17,,,,,,,G11.4, 10814,spastic_paraplegia_18,,,,,,,, 10815,spastic_paraplegia_19,,,,,,,, 10816,spastic_paraplegia_2,,,,,,C536857,G11.4, 10817,spastic_paraplegia_20,,,,,,,, 10818,spastic_paraplegia_23,,,,,,,G11.4, 10819,spastic_paraplegia_24,,,,,,,, 10820,spastic_paraplegia_25,,,,,,,, 10821,spastic_paraplegia_26,,,,,,,, 10822,spastic_paraplegia_29,,,,,,,, 10823,spastic_paraplegia_3,,,,,,,, 10824,spastic_paraplegia_31,,,,,,,G11.4, 10825,spastic_paraplegia_39,,,,,,,G11.4, 10826,spastic_paraplegia_51,,,,,,,, 10827,spastic_paraplegia_5a,,,,,,C536871,G11.4, 10828,spastic_paraplegia_5b,,,,,,,, 10829,spastic_paraplegia_6,,,,,,C536866,G11.4, 10830,spastic_paraplegia_9,,,,,,,, 10831,spastic_paraplegia_and_distal_muscle_wasting_caused_by_neuropathy_target_esterase_gene_mutation,,,,,,,, 10832,spastic_paraplegia_epilepsy_mental_retardation,,,,,,,, 10833,spastic_paraplegia_facial_cutaneous_lesions,,,,,,,, 10834,spastic_paraplegia_neuropathy_poikiloderma,,,,,,C536870,, 10835,spastic_paraplegia_with_precocious_puberty,,,,,,C536874,, 10836,spastic_paresis_glaucoma_mental_retardation,,,,,,,, 10837,spastic_quadriplegia_retinitis_pigmentosa_mental_retardation,,,,,,,, 10838,spasticity_mental_retardation,,,,,,,, 10839,spasticity_multiple_exostoses,,,,,,,, 10840,spermatogenesis_arrest,spermatogenesis_arrest,,,,,,, 10841,spheroid_body_myopathy,,,,,,,G71.8, 10842,spielmeyer_vogt_disease,,,,,,,, 10843,spina_bifida_hypospadias,,,,,,,Q05.9, 10844,spina_bifida_occulta,,,,,Q76.0,,, 10845,spinal_atrophy_ophthalmoplegia_pyramidal_syndrome,,,,,,,, 10846,spinal_bulbar_motor_neuropathy,,,,,,,, 10847,spinal_dysostosis_type_anhalt,,,,,,,, 10848,spinal_intradural_arachnoid_cysts,,,,,,,, 10849,spinal_muscular_atrophy_1,,,,,,,G12.0, 10850,spinal_muscular_atrophy_ryukyuan_type,,,,,,,, 10851,spinal_muscular_atrophy_type_1_with_congenital_bone_fractures,,,,,,,, 10852,spinal_muscular_atrophy_type_2,,,,,,,G12.1, 10853,spinal_muscular_atrophy_with_respiratory_distress_1,spinal_muscular_atrophy_with_respiratory_distress_type_1,,,,,,G12.2, 10854,spinal_shock,spinal_shock,,,,R57|R57.9|T88.2,,, 10855,spine_rigid_cardiomyopathy,,,,,,,, 10856,spinocerebellar_ataxia_18,,,,,,C537197,G11, 10857,spinocerebellar_ataxia_19,,,,,,,, 10858,spinocerebellar_ataxia_21,,,,,,C537200,G11, 10859,spinocerebellar_ataxia_23,,,,,,C537201,G11, 10860,spinocerebellar_ataxia_25,,,,,,C537202,G11, 10861,spinocerebellar_ataxia_26,,,,,,C537203,G11, 10862,spinocerebellar_ataxia_27,,,,,,C537204,G11, 10863,spinocerebellar_ataxia_29,,,,,,,G11, 10864,spinocerebellar_ataxia_30,,,,,,C537206,G11, 10865,spinocerebellar_ataxia_31,,,,,,,G11, 10866,spinocerebellar_ataxia_34,,,,,,C535514|C535738,, 10867,spinocerebellar_ataxia_4,,,,,,,G11, 10868,spinocerebellar_ataxia_5,,,,,,,G11, 10869,spinocerebellar_ataxia_9,,,,,,,, 10870,spinocerebellar_ataxia_autosomal_recessive_1,,,,,,,G60.2, 10871,spinocerebellar_ataxia_autosomal_recessive_3,,,,,,,, 10872,spinocerebellar_ataxia_autosomal_recessive_4,,,,,,,, 10873,spinocerebellar_ataxia_autosomal_recessive_5,,,,,,,G11.1, 10874,spinocerebellar_ataxia_autosomal_recessive_6,,,,,,,, 10875,spinocerebellar_ataxia_with_dysmorphism,,,,,,,G11.8, 10876,spinocerebellar_ataxia_x_linked_type_2,,,,,,,, 10877,spinocerebellar_ataxia_x_linked_type_3,,,,,,C537315,G11.1, 10878,spinocerebellar_ataxia_x_linked_type_4,,,,,,C537316,G11.1, 10879,spinocerebellar_degeneration_and_corneal_dystrophy,,,,,,C535472,, 10880,spinocerebellar_degenerescence_book_type,,,,,,,, 10881,spirochetes_disease,spirochetes_disease,,,,A69.8,,, 10882,spirurida_infections,,,,,,,, 10883,spitz_nevus,spitz_nevus,,,,,,, 10884,splenogonadal_fusion_limb_defects_micrognatia,,,,,,,, 10885,splenomegaly,splenomegaly,,,,R16.1,,, 10886,split_hand_foot_malformation_7,,,,,,,, 10887,split_hand_foot_malformation_1,,,,,,,, 10888,split_hand_split_foot_malformation_autosomal_recessive,,,,,,,, 10889,split_hand_split_foot_nystagmus,,,,,,C537319,Q87.2, 10890,split_hand_urinary_anomalies_spina_bifida,,,,,,,Q87.8, 10891,split_hand_foot_malformation_x_linked,,,,,,,, 10892,spondylarthropathy,spondylarthropathies,,,,,,, 10893,spondylocamptodactyly,,,,,,C535779,, 10894,spondylocarpotarsal_synostosis_syndrome,,,,,Q76.3,,Q76.4, 10895,spondylocostal_dysostosis_1,,,,,,C535781|C537565,Q76.8,61367005 10896,spondylocostal_dysostosis_2,,,,,,,, 10897,spondylocostal_dysostosis_3,,,,,,,, 10898,spondylocostal_dysostosis_4,,,,,,,, 10899,spondyloenchondrodysplasia,,,,,,C535782,Q77.7,254079002|389268008 10900,spondyloepimetaphyseal_dysplasia_genevieve_type,,,,,,C535785,Q77.7, 10901,spondyloepimetaphyseal_dysplasia_joint_laxity,,,,,,,Q77.7,254100000 10902,spondyloepimetaphyseal_dysplasia_matrilin_3_related,,,,,,,, 10903,spondyloepimetaphyseal_dysplasia_micromelic,,,,,,,, 10904,spondyloepimetaphyseal_dysplasia_shohat_type,,,,,,,Q77.7, 10905,spondyloepimetaphyseal_dysplasia_sponastrime_type,,,,,,,, 10906,spondyloepimetaphyseal_dysplasia_with_hypotrichosis,,,,,,C535783,Q77.7, 10907,spondyloepimetaphyseal_dysplasia_with_multiple_dislocations,,,,,,C535784,Q77.7, 10908,spondyloepimetaphyseal_dysplasia_x_linked,,,,,,,Q77.7, 10909,spondyloepimetaphyseal_dysplasia_x_linked_with_mental_deterioration,,,,,,,, 10910,spondyloepimetaphyseal_dysplasia_aggrecan_type,,,,,,,Q77.7, 10911,spondyloepiphyseal_dysplasia_maroteaux_type,,,,,,,Q77.7|Q76.3, 10912,spondyloepiphyseal_dysplasia_omani_type,,,,,,,, 10913,spondyloepiphyseal_dysplasia_tarda_autosomal_dominant,,,,,,,, 10914,spondyloepiphyseal_dysplasia_tarda_toledo_type,,,,,,,Q76.3, 10915,spondyloepiphyseal_dysplasia_brachydactyly_and_distinctive_speech,,,,,,,, 10916,spondylohypoplasia_arthrogryposis_and_popliteal_pterygium,,,,,,,, 10917,spondylometaepiphyseal_dysplasia_short_limb_hand_type,,,,,,,Q77.7, 10918,spondylometaphyseal_dysplasia_algerian_type,,,,,,,Q77.8, 10919,spondylometaphyseal_dysplasia_corner_fracture_type,,,,,,C535793,Q77.8,254078005 10920,spondylometaphyseal_dysplasia_east_african_type,,,,,,,, 10921,spondylometaphyseal_dysplasia_kozlowski_type,,,,,,C535797,Q77.8, 10922,spondylometaphyseal_dysplasia_sedaghatian_type,,,,,,C535798,Q77.8, 10923,spondylometaphyseal_dysplasia_type_a4,,,,,,,Q77.8, 10924,spondylometaphyseal_dysplasia_with_bowed_forearms_and_facial_dysmorphism,,,,,,C535791,Q77.8, 10925,spondylometaphyseal_dysplasia_with_cone_rod_dystrophy,,,,,,,H35.5|Q77.8, 10926,spondylometaphyseal_dysplasia_with_dentinogenesis_imperfecta,,,,,,,, 10927,spondylometaphyseal_dysplasia_x_linked,,,,,,,, 10928,spondyloperipheral_dysplasia,spondyloperipheral_dysplasia,,,,,C535799,Q77.7, 10929,spondylospinal_thoracic_dysostosis,,,,,,,, 10930,spontaneous_coronary_artery_dissection,,,,,,,, 10931,spontaneous_pneumothorax_familial_type,,,,,,,, 10932,spranger_schinzel_myers_syndrome,,,,,,,, 10933,sprengel_deformity,,,,,,C535802,Q74.0,79120002 10934,squamous_cell_carcinoma_of_the_head_and_neck,squamous_cell_carcinoma_of_the_head_and_neck,,,,,C535575,, 10935,st_anthonys_fire,,,,,,,, 10936,stachybotrys_chartarum,stachybotrys_chartarum,,,,,,, 10937,stalker_chitayat_syndrome,,,,,,,Q43.3, 10938,stampe_sorensen_syndrome,,,,,,,, 10939,staphylococcal_toxic_shock_syndrome,,,,,,,A48.3,240450004 10940,star_syndrome,,,,,,,Q87.8, 10941,stargardt_disease,stargardt_disease,,,,,,, 10942,stargardt_macular_degeneration_absent_or_hypoplastic_corpus_callosum_mental_retardation_and_dysmorphic_features,,,,,,,, 10943,steatocystoma_multiplex,,,,,L72.2,,L72.2, 10944,steatocystoma_multiplex_with_natal_teeth,,,,,,C537487,, 10945,steinfeld_syndrome,,,,,,,Q87.8, 10946,stenotrophomonas_maltophilia,stenotrophomonas_maltophilia,,,,,,, 10947,sterility_due_to_immotile_flagella,,,,,,,, 10948,sternal_cleft,sternal_cleft,,,,,C537489,Q76.7,54008006 10949,sternal_cyst_vascular_anomalies,,,,,,,, 10950,sternal_malformation_vascular_dysplasia_associatio,,,,,,,, 10951,steroid_dehydrogenase_deficiency_dental_anomalies,,,,,,,, 10952,stickler_syndrome_type_1,,,,,,C537492,Q87.5|Q15.8,78675000 10953,stickler_syndrome_type_2,,,,,,C537493,Q15.8|Q87.5, 10954,stickler_syndrome_type_3,,,,,,C537494,Q87.5, 10955,stiff_skin_syndrome,stiff_skin_syndrome,,,,,,, 10956,stocco_dos_santos_syndrome,,,,,,,, 10957,stoelinga_de_koomen_davis_syndrome,,,,,,,, 10958,stoll_alembik_finck_syndrome,,,,,,,, 10959,stomach_cancer_childhood,,,,,,,, 10960,stomach_cancer_familial,,,,,,,, 10961,stomatocytosis_i,,,,,,,D58.8, 10962,stomatocytosis_ii,,,,,,,, 10963,storm_syndrome,,,,,,,, 10964,stratton_garcia_young_syndrome,,,,,,,Q87.8, 10965,streptococcal_group_a_invasive_disease,,,,,,,, 10966,streptococcal_group_b_invasive_disease,,,,,,,, 10967,stress_cardiomyopathy,stress_cardiomyopathy,,,,,,, 10968,striatonigral_degeneration_infantile,,,,,,,G23.2, 10969,sturge_weber_syndrome,sturge-weber_syndrome,,,,,D013341,Q85.8,19886006 10970,stuve_wiedemann_syndrome,,,,,,C537502,Q78.8,254097005 10971,subaortic_stenosis_short_stature_syndrome,,,,,,,, 10972,subcortical_band_heterotopia,,,,,,,, 10973,subcutaneous_panniculitis_like_t_cell_lymphoma,,,,,C86.3,C537503,C84.4,103682005|404133000 10974,subependymal_nodular_heterotopia,,,,,,,Q04.8, 10975,subependymoma,subependymoma,,,,,,, 10976,subpulmonary_stenosis,,,,,,,Q24.3, 10977,succinic_acidemia,,,,,,,, 10978,succinic_acidemia_lactic_acidosis_congenital,,,,,,,, 10979,sudden_arrhythmia_death_syndrome,sudden_arrhythmia_death_syndrome,,,,,,, 10980,sugarman_brachydactyly,,,,,,,, 10981,sulfite_oxidase_deficiency,sulfite_oxidase,,,,,,E72.1, 10982,summitt_syndrome,,,,,,C538142,Q82.0,403767009 10983,sunct_headache,,,,,,D050798,G44.8, 10984,superficial_siderosis_of_the_central_nervous_system,,,,,,,, 10985,superficial_spreading_melanoma,superficial_spreading_melanoma,,,,,,, 10986,superior_canal_dehiscence_syndrome,superior_canal_dehiscence,,,,,,, 10987,superior_limbic_keratoconjunctivitis,superior_limbic_keratoconjunctivitis,,,,,,H16.2,231903005 10988,superior_vena_cava_syndrome,superior_vena_cava_syndrome,,,,,,, 10989,supernumerary_nipples,,,,,,,, 10990,supraglottic_laryngeal_cancer,,,,,C32.1,,, 10991,supranuclear_ocular_palsy,supranuclear_ocular_palsy,,,,,,, 10992,supratentorial_primitive_neuroectodermal_tumors_childhood,,,,,,,, 10993,supraumbilical_midabdominal_raphe_and_facial_cavernous_hemangiomas,,,,,,,D18.0,234140000 10994,susac_syndrome,,,,,,D055955,I67.7,197679002 10995,sutton_disease_2,,,,,,,, 10996,swyer_syndrome,swyer_syndrome,,,,,,, 10997,swyer_james_syndrome,,,,,,,, 10998,sydenhams_chorea,,,,,,,I02, 10999,symmastia,symmastia,,,,,,, 11000,symmetrical_thalamic_calcifications,,,,,,,, 11001,symphalangism_brachydactyly_craniosynostosis,,,,,,,, 11002,symphalangism_distal,,,,,,,Q70.9, 11003,symphalangism_familial_proximal,,,,,,,, 11004,symphalangism_short_stature_accessory_testis,,,,,,,, 11005,symphalangism_with_multiple_anomalies_of_hands_and_feet,,,,,,,Q74.8, 11006,symphalangism_distal_with_microdontia_dental_pulp_stones_and_narrowed_zygomatic_arch,,,,,,,, 11007,syncamptodactyly_scoliosis,,,,,,,, 11008,syndactyly_cataract_mental_retardation,,,,,,,, 11009,syndactyly_cenani_lenz_type,,,,,,,Q78.4, 11010,syndactyly_ectodermal_dysplasia_cleft_lip_palate_hand_foot,,,,,,,, 11011,syndactyly_type_1,,,,,,,Q70, 11012,syndactyly_type_1_with_cataracts_and_mental_retardation,,,,,,,, 11013,syndactyly_type_2,,,,,,C538153,Q70, 11014,syndactyly_type_3,,,,,,C538154,Q70.1, 11015,syndactyly_type_4,,,,,,,Q70.4, 11016,syndactyly_type_5,,,,,Q70|Q70.9,C538155,Q70, 11017,syndactyly_type_9,,,,,,,Q70, 11018,syndactyly_polydactyly_earlobe_syndrome,,,,,,,, 11019,syndesmodysplasic_dwarfism,,,,,,,, 11020,syndrome_of_inappropriate_antidiuretic_hormone,syndrome_of_inappropriate_antidiuretic_hormone,,,,,,, 11021,syngnathia_cleft_palate,,,,,,,, 11022,syngnathia_multiple_anomalies,,,,,,,, 11023,synostosis_of_talus_and_calcaneus_short_stature,,,,,,,, 11024,synovial_cancer,synovial_cancer,,,,,,, 11025,synovial_chondromatosis,synovial_chondromatosis,,,,,,, 11026,synovial_chondromatosis_familial_with_dwarfism,,,,,,,, 11027,syphilitic_aseptic_meningitis,,,,,,,, 11028,syphilitic_myelopathy,syphilitic_myelopathy,,,,,,, 11029,syringobulbia,syringobulbia,,,,,,, 11030,syringomas_natal_teeth_oligodontia,,,,,,,, 11031,syringomelia_hyperkeratosis,,,,,,,, 11032,systemic_capillary_leak_syndrome,,,,,,D019559,I78.8,87730004 11033,systemic_necrotizing_angitis,,,,,,,, 11034,systemic_onset_juvenile_idiopathic_arthritis,,,,,,,, 11035,t_cell_immunodeficiency_primary,,,,,,C536780,, 11036,t_cell_immunodeficiency_congenital_alopecia_and_nail_dystrophy,,,,,,,D82.8, 11037,t_cell_lymphoma_1a,,,,,,,, 11038,t_lymphocytopenia,,,,,,,, 11039,tabatznik_syndrome,tabatznik_syndrome,,,,,,Q87.2, 11040,tachycardia_hypertension_microphthalmia_and_hyperglycinuria,,,,,,,, 11041,talipes_equinovarus,talipes_equinovarus,,,,Q66.0,,, 11042,talo_patello_scaphoid_osteolysis_synovitis_and_short_fourth_metacarpals,,,,,,,, 11043,talonavicular_coalition,,,,,,,, 11044,tang_hsi_ryu_syndrome,,,,,,,, 11045,tardive_dyskinesia,tardive_dyskinesia,,,,,,, 11046,tarlov_cysts,tarlov_cyst,,,,,,, 11047,tarp_syndrome,,,,,,C536942,Q87.8, 11048,tarsal_carpal_coalition_syndrome_2,,,,,,C536943,Q74.8, 11049,tau_syndrome,,,,,,,, 11050,taurodontia_absent_teeth_sparse_hair,,,,,,C536945,, 11051,taurodontism,taurodontism,,,,,C536946,K00.2,51744007 11052,taurodontism_microdontia_and_dens_invaginatus,,,,,,,, 11053,teebi_kaurah_syndrome,,,,,,,, 11054,teebi_naguib_al_awadi_syndrome,,,,,,,, 11055,teebi_shaltout_syndrome,,,,,,C536950,, 11056,teeth_noneruption_of_with_maxillary_hypoplasia_and_genu_valgum,,,,,,C536952|C537496,, 11057,tel_hashomer_camptodactyly_syndrome,,,,,,C536953,Q74.0, 11058,telencephalic_leukoencephalopathy,,,,,,,, 11059,telfer_sugar_jaeger_syndrome,,,,,,,, 11060,tempi_syndrome,tempi_syndrome,,,,,,, 11061,temporal_epilepsy_familial,,,,,,C536956,, 11062,temporomandibular_ankylosis,,,,,,,, 11063,temtamy_preaxial_brachydactyly_syndrome,,,,,,,, 11064,temtamy_syndrome,,,,,,C536959,Q87.8, 11065,tendons_extensor_of_fingers_anomalous_insertion_of,anomalous_insertion_of_extensor_tendons_of_fingers,,,,,,, 11066,teratoma_with_malignant_transformation,,,,,,,, 11067,testicular_cancer_childhood,,,,,,,, 11068,testotoxicosis,testotoxicosis,,,,,,, 11069,tetraamelia_multiple_malformations_x_linked,,,,,,,, 11070,tetraamelia_with_ectodermal_dysplasia_and_lacrimal_duct_abnormalities,,,,,,,, 11071,tetraamelia_with_pulmonary_hypoplasia,,,,,,,, 11072,tetralogy_of_fallot_and_glaucoma,,,,,,,, 11073,tetramelic_monodactyly,,,,,,,Q73.8, 11074,tetraploidy,tetraploidy,,,,,D057891,Q92.7,62749002 11075,tetrasomy_9p,tetrasomy_9p,,,,,,Q99.8, 11076,tetrasomy_x,tetrasomy_x,,,,,C536502,Q97.1,10567003 11077,thai_symphalangism_syndrome,,,,,,,, 11078,thakker_donnai_syndrome,,,,,,,Q87.8, 11079,thalamic_degeneration_symmetrical_infantile,,,,,,C536504,, 11080,thalamic_degeneration_symmetric_infantile,,,,,,,, 11081,thanatophoric_dysplasia_glasgow_variant,,,,,,C536506,Q77.1, 11082,thanatophoric_dysplasia_type_1,,,,,,,Q77.1|Q77.4, 11083,theodor_hertz_goodman_syndrome,,,,,,,, 11084,thickened_earlobes_with_conductive_deafness_from_incus_stapes_abnormalities,,,,,,,, 11085,thin_basement_membrane_nephropathy,,,,,,,, 11086,thiolase_deficiency,thiolase_deficiency,,,,,,, 11087,thiopurine_s_methyltranferase_deficiency,,,,,,,E79.8, 11088,thompson_baraitser_syndrome,,,,,,,, 11089,thoracic_celosomia,,,,,,,, 11090,thoracic_dysplasia_hydrocephalus_syndrome,,,,,,,Q87.8, 11091,thoraco_abdominal_enteric_duplication,,,,,,,Q43.4, 11092,thoraco_limb_dysplasia_rivera_type,,,,,,,, 11093,thoracolaryngopelvic_dysplasia,,,,,,C536517,Q77.2, 11094,thoracomelic_dysplasia,,,,,,,Q77.2, 11095,thoracopelvic_dysostosis,,,,,,,, 11096,thrombasthenia,thrombasthenia,,,,,,, 11097,thrombocytopathy_asplenia_miosis,,,,,,,, 11098,thrombocytopenia_2,,,,,,,D69.4, 11099,thrombocytopenia_cerebellar_hypoplasia_short_stature,,,,,,,, 11100,thrombocytopenia_robin_sequence,,,,,,C536898,, 11101,thrombocytopenia_with_elevated_serum_iga_and_renal_disease,,,,,,,, 11102,thrombocytopenia_acquired_amegakaryocytic,,,,,,,, 11103,thrombomodulin_anomalies_familial,,,,,,C536900,D68.8, 11104,thrombotic_thrombocytopenic_purpura_acquired,thrombotic_thrombocytopenic_purpura,,,,,D011697,D69.4|M31.3,78129009 11105,thrombotic_thrombocytopenic_purpura_congenital,,,,,,,M31.3, 11106,thumb_absent_short_stature_immune_deficiency,,,,,,,, 11107,thumb_deformity,,,,,,,, 11108,thumb_deformity_alopecia_pigmentation_anomaly,,,,,,C536904,, 11109,thumb_stiff_brachydactyly_mental_retardation,,,,,,,, 11110,thunderclap_headache,thunderclap_headache,,,,,,, 11111,thymic_epithelial_tumor,,,,,,,, 11112,thymic_hyperplasia,,,,,,,, 11113,thymic_renal_anal_lung_dysplasia,,,,,,C536907,Q87.8, 11114,thymoma_childhood,,,,,,,, 11115,thyrocerebral_retinal_syndrome,,,,,,,, 11116,thyroglossal_tract_cyst,,,,,,,Q89.2,39462005 11117,thyroid_agenesis,thyroid_agenesis,,,,,,, 11118,thyroid_cancer_anaplastic,anaplastic_thyroid_cancer,,,,,C536910,C73,255031003 11119,thyroid_cancer_childhood,,,,,,,, 11120,thyroid_hormone_plasma_membrane_transport_defect,,,,,,,, 11121,thyrotoxic_periodic_paralysis,thyrotoxic_periodic_paralysis,,,,,,, 11122,thyrotropin_deficiency_isolated,,,,,,,, 11123,tibia_absent_polydactyly_arachnoid_cyst,,,,,,C536918,, 11124,tibiae_bowed_radial_anomalies_osteopenia_fracture,,,,,,,, 11125,tibial_aplasia_ectrodactyly_hydrocephalus,,,,,,,, 11126,tibial_hemimelia_cleft_lip_palate,,,,,,,, 11127,tieche_jadassohn_nevus,,,,,,,, 11128,tietz_syndrome,tietz_syndrome,,,,,C536919,, 11129,tight_skin_contracture_syndrome_lethal,,,,,,,Q82.8, 11130,tiglic_acidemia,,,,,,,, 11131,togaviridae_disease,togaviridae,,,,,,, 11132,tollner_horst_manzke_syndrome,,,,,,,, 11133,tome_brunet_fardeau_syndrome,,,,,,,, 11134,toni_debre_fanconi_syndrome,,,,,,,, 11135,toni_fanconi_syndrome,,,,,,,, 11136,tonoki_syndrome,,,,,,,, 11137,torch_syndrome,,,,,,,, 11138,torg_winchester_syndrome,,,,,,C536051,Q87.1|M89.5,254151006 11139,toriello_carey_syndrome,,,,,,,Q87.8, 11140,torsion_dystonia,torsion_dystonia,,,,,,, 11141,torsion_dystonia_with_onset_in_infancy,,,,,,,, 11142,torticollis_keloids_cryptorchidism_renal_dysplasia,,,,,,C536970,Q87.8, 11143,torticollis_familial,,,,,,,, 11144,total_hypotrichosis_mari_type,,,,,,,, 11145,toxic_epidermal_necrolysis,toxic_epidermal_necrolysis,,,,L51.2,,, 11146,trabecular_fiber_myopathy,,,,,,,, 11147,tracheal_agenesis,tracheal_agenesis,,,,,C536975,Q32.1, 11148,tracheal_agenesis_without_tracheoesophageal_fistula,,,,,,,, 11149,tracheobronchomalacia,tracheobronchomalacia,,,,,,, 11150,tracheobronchomegaly,tracheobronchomegaly,,,,,D014137,J98.0,57451009 11151,tracheobronchopathia_osteoplastica,,,,,,,J98.0, 11152,tracheoesophageal_fistula,tracheoesophageal_fistula,,,,,,, 11153,tracheoesophageal_fistula_symphalangism,,,,,,,, 11154,tracheophageal_fistula_hypospadias,,,,,,,, 11155,tranebjaerg_svejgaard_syndrome,,,,,,,, 11156,transaldolase_deficiency,transaldolase_deficiency,,,,,,E74.8,124252008 11157,transcobalamin_1_deficiency,,,,,,,, 11158,transient_acantholytic_dermatosis,,,,,L11.1,,, 11159,transient_bullous_dermolysis_of_the_newborn,,,,,,,, 11160,transient_erythroblastopenia_of_childhood,,,,,D60.1,C536980,D60.1,234375006 11161,transient_neonatal_arthrogryposis,,,,,,,, 11162,transient_neonatal_diabetes_mellitus,,,,,,,P70.2, 11163,transposition_of_the_great_arteries,,,,,,,, 11164,transverse_limb_deficiency_hemangioma,,,,,,,D18.0, 11165,transverse_myelitis,transverse_myelitis,,,,,,, 11166,treacher_collins_syndrome_3,,,,,,,Q75.4,82203000 11167,treft_sanborn_carey_syndrome,,,,,,C536544,, 11168,trehalase_deficiency,,,,,,,E74.3, 11169,tremor_hereditary_essential_2,,,,,,,, 11170,treponema_infection,,,,,,,, 11171,tricho_odonto_onycho_dermal_syndrome,,,,,,,, 11172,tricho_odonto_onychodysplasia_syndactyly_dominant_type,,,,,,,, 11173,tricho_onychic_dysplasia,,,,,,,, 11174,tricho_onycho_hypohidrotic_dysplasia,,,,,,,, 11175,tricho_retino_dento_digital_syndrome,,,,,,,Q82.4, 11176,tricho_dento_osseous_syndrome,tricho-dento-osseous_syndrome,,,,,,, 11177,tricho_dento_osseous_syndrome_1,,,,,,,, 11178,tricho_hepato_enteric_syndrome,,,,,,,, 11179,trichodental_syndrome,,,,,,C536551,,277810000 11180,trichodysplasia_xeroderma,,,,,,,, 11181,trichofolliculoma,trichofolliculoma,,,,,C536553,,274899008|33059009 11182,trichomalacia,,,,,,,, 11183,trichomegaly_with_intellectual_disability_dwarfism_and_pigmentary_degeneration_of_retina,,,,,,,, 11184,trichomegaly_cataract_and_hereditary_spherocytosis,,,,,,,Q87.8, 11185,trichoodontoonychial_dysplasia,,,,,,,, 11186,trichorhinophalangeal_syndrome_type_2,langer-giedion_syndrome,,,,,C536555|D015826,Q87.8,41069008 11187,trichorrhexis_nodosa_syndrome,,,,,L67.0,,, 11188,trichoscyphodysplasia,,,,,,,, 11189,trichostasis_spinulosa,,,,,,,, 11190,tricuspid_atresia,tricuspid_atresia,,,,,D018785,Q22.4,63042009 11191,trigger_thumb,trigger_thumb,,,,,,, 11192,trigonobrachycephaly_bulbous_bifid_nose_micrognathia_and_abnormalities_of_the_hands_and_feet,,,,,,,Q87.0, 11193,trigonocephaly_ptosis_mental_retardation,,,,,,,, 11194,trigonomacrocephaly_tibial_defect_polydactyly,,,,,,,, 11195,trihydroxycholestanoylcoa_oxidase_isolated_deficiency,,,,,,,, 11196,triopia,,,,,,,, 11197,triose_phosphate_isomerase_deficiency,,,,,,,D55.2,234405009 11198,triphalangeal_thumb_non_opposable,,,,,,,, 11199,triphalangeal_thumb_polysyndactyly_syndrome_2,,,,,,C536563,Q74.8|Q69.1, 11200,triphalangeal_thumbs_brachyectrodactyly,,,,,,C536564,Q74.8, 11201,triploidy,triploidy,,,,,D057885,Q92.7,14847005|66651005 11202,trismus_pseudocamptodactyly_syndrome,,,,,,,M24.5|Q68.1, 11203,trisomy_11_mosaicism,,,,,,,, 11204,trisomy_12_mosaicism,,,,,,,, 11205,trisomy_17_mosaicism,,,,,,,, 11206,trisomy_2_mosaicism,,,,,,,, 11207,trisomy_22,trisomy_22,,,,,,, 11208,trisomy_3_mosaicism,,,,,,,, 11209,trochlea_of_the_humerus_aplasia_of,,,,,,,Q74.0, 11210,trochlear_dysplasia,,,,,,,Q68.2, 11211,trueb_burg_bottani_syndrome,,,,,,,, 11212,trypanosomiasis_human_east_african,,,,,,,, 11213,trypanosomiasis_human_west_african,,,,,,,, 11214,tryptophanuria_with_dwarfism,,,,,,,, 11215,tsukahara_azuno_kajii_syndrome,,,,,,,, 11216,tuberculous_meningitis,tuberculous_meningitis,,,,A17.0,,, 11217,tuberculous_uveitis,,,,,,,, 11218,tuberous_sclerosis_type_2,,,,,,D014402,Q85.1,7199000 11219,tubular_aggregate_myopathy,,,,,,,G71.2,240087000 11220,tubulointerstitial_nephritis_and_uveitis,,,,,,C536922,N10,418839003 11221,tucker_syndrome,,,,,,,, 11222,tufted_angioma,tufted_angioma,,,,,C536924,D18.0,254786000 11223,tufted_hair_folliculitis,,,,,,,, 11224,tufting_enteropathy,,,,,,,, 11225,tukel_syndrome,,,,,,,, 11226,tunglang_savage_bellman_syndrome,,,,,,,, 11227,turcot_syndrome,turcot_syndrome,,,,,,C18, 11228,twenty_nail_dystrophy,,,,,,,, 11229,twin_twin_transfusion_syndrome,twin-twin_transfusion_syndrome,,,,,,, 11230,tylosis_with_esophageal_cancer,tylosis_with_esophageal_cancer,,,,,,, 11231,type_1_plasminogen_deficiency,,,,,,,, 11232,tyrosine_oxidase_temporary_deficiency,,,,,,,, 11233,uhl_anomaly,uhl_anomaly,,,,,,, 11234,ulcerative_proctitis,,,,,K51.2,,, 11235,ulerythema_ophryogenesis,,,,,,,, 11236,ulna_and_fibula_absence_of_with_severe_limb_deficiency,,,,,,,, 11237,ulna_and_fibula_hypoplasia_of,,,,,,,, 11238,ulna_hypoplasia_with_mental_retardation,,,,,,,, 11239,ulna_metaphyseal_dysplasia_syndrome,,,,,,C536935,Q78.5, 11240,ulnar_hypoplasia_lobster_claw_deformity_of_feet,,,,,,C536936,Q73.8, 11241,ulnar_mammary_syndrome,ulnar-mammary_syndrome,,,,,C536937,Q71.8, 11242,umbilical_cord_ulceration_and_intestinal_atresia,,,,,,C536938,, 11243,uncombable_hair_syndrome,uncombable_hair_syndrome,,,,,C536939,Q84.1,254230001 11244,uniparental_disomy_of_6,,,,,,,, 11245,uniparental_disomy_of_13,,,,,,,Q99.8, 11246,uniparental_disomy_of_chromosome_11,,,,,,,, 11247,uniparental_disomy_of_chromosome_2,,,,,,,, 11248,uniparental_disomy_paternal_chromosome_14,,,,,,C536471,Q99.8, 11249,unna_thost_palmoplantar_keratoderma,,,,,,,, 11250,upington_disease,upington_disease,,,,,C536472,M91.8, 11251,upton_young_syndrome,,,,,,,, 11252,urachal_adenocarcinoma,,,,,,,, 11253,urachal_cancer,urachal_cancer,,,,,,, 11254,urachal_cyst,,,,,,D014496,Q64.4,17234001 11255,urethral_obstruction_sequence,,,,,,,, 11256,urocanase_deficiency,urocanase_deficiency,,,,,,E70.8, 11257,urogenital_adysplasia,,,,,,,, 11258,uropathy_distal_obstructive_polydactyly,,,,,,,, 11259,usher_syndrome_type_2a,,,,,,,H35.5,232058008 11260,usher_syndrome_type_3,,,,,,D052245,H35.5,57838006 11261,usher_syndrome_type_1b,,,,,,,H35.5,232057003 11262,usher_syndrome_type_1c,,,,,,,, 11263,usher_syndrome_type_1d,,,,,,,, 11264,usher_syndrome_type_1e,,,,,,,, 11265,usher_syndrome_type_1f,,,,,,,, 11266,usher_syndrome_type_2b,,,,,,,, 11267,usher_syndrome_type_2c,,,,,,,, 11268,usual_interstitial_pneumonia,usual_interstitial_pneumonia,,,,,,, 11269,uterine_sarcoma,,,,,,,, 11270,uv_sensitive_syndrome_2,,,,,,,, 11271,uveal_diseases,,,,,,,, 11272,vacterl_association_with_hydrocephaly_x_linked,,,,,,,, 11273,vacterl_hydrocephaly,,,,,,,, 11274,vacuolar_myopathy,,,,,,,, 11275,vagina_absence_of,,,,,,,, 11276,vagneur_triolle_ripert_syndrome,,,,,,,, 11277,valinemia,valinemia,,,,,,, 11278,van_allen_myhre_syndrome,,,,,,,, 11279,van_benthem_driessen_hanveld_syndrome,,,,,,,Q87.8, 11280,van_bogaert_hozay_syndrome,,,,,,,, 11281,van_buchem_disease_type_2,,,,,,,, 11282,van_den_bosch_syndrome,,,,,,,, 11283,van_der_woude_syndrome,,,,,,C536528,Q38.0,79261008 11284,van_der_woude_syndrome_2,,,,,,,, 11285,van_maldergem_wetzburger_verloes_syndrome,,,,,,,, 11286,van_regemorter_pierquin_vamos_syndrome,,,,,,,, 11287,variant_creutzfeldt_jakob_disease,,,,,,,, 11288,varicella_virus_antenatal_infection,varicella_virus_antenatal_infection,,,,,,P35.8, 11289,vascular_hyalinosis,,,,,,,, 11290,vascular_malposition,,,,,,,, 11291,vasculopathy_retinal_with_cerebral_leukodystrophy,,,,,,,I67.3, 11292,vasquez_hurst_sotos_syndrome,,,,,,,, 11293,vein_of_galen_aneurysm,,,,,,C536535,Q28.2,253194008 11294,velofacioskeletal_syndrome,,,,,,,, 11295,venencie_powell_gordon_winkelmann_syndrome,,,,,,,, 11296,ventricular_extrasystoles_with_syncopal_episodes_perodactyly_robin_sequence,,,,,,,, 11297,ventriculo_arterial_discordance_isolated,,,,,,,, 11298,ventruto_digirolamo_festa_syndrome,,,,,,,, 11299,verloes_bourguignon_syndrome,,,,,,,Q76.3, 11300,verloes_van_maldergem_marneffe_syndrome,,,,,,,, 11301,verloove_vanhorick_brubakk_syndrome,,,,,,C536541,Q87.8, 11302,vernal_keratitis,,,,,,,, 11303,vernal_keratoconjunctivitis,vernal_keratoconjunctivitis,,,,,,H16.2,317349009 11304,verrucous_nevus_acanthokeratolytic,,,,,,,Q82.5, 11305,vertebral_body_fusion_overgrowth,,,,,,,, 11306,vertebral_fusion_posterior_lumbosacral_blepharoptosis,,,,,,,, 11307,vertical_talus_congenital,vertical_talus,,,,,,Q66.8, 11308,vestibulocochlear_dysfunction_progressive,vestibulocochlear_dysfunction_progressive_familial,,,,,,H83.8, 11309,vibratory_angioedema,,,,,,,, 11310,vibrio_vulnificus_infection,,,,,,,, 11311,vici_syndrome,vici_syndrome,,,,,,Q87.8, 11312,viljoen_kallis_voges_syndrome,,,,,,,Q87.8, 11313,viljoen_winship_syndrome,,,,,,,, 11314,viral_hemorrhagic_fever,viral_hemorrhagic_fever,,,,,,,240523007 11315,virilizing_ovarian_tumor,,,,,,,, 11316,virus_associated_hemophagocytic_syndrome,,,,,,,, 11317,visceral_neuropathy_familial,,,,,,,, 11318,visceral_steatosis,,,,,,,, 11319,visual_pathway_and_hypothalamic_glioma_childhood,,,,,,,, 11320,vitamin_a_embryopathy,,,,,,,, 11321,vitiligo_mental_retardation_facial_dysmorphism_uremia,,,,,,,, 11322,vitreoretinal_degeneration,,,,,,,, 11323,vitreoretinochoroidopathy_dominant,,,,,,,, 11324,vocal_cord_dysfunction_familial,,,,,,,J38.0, 11325,vohwinkel_syndrome,vohwinkel_syndrome,,,,,,Q82.8, 11326,vulvar_vestibulitis_syndrome,vulvar_vestibulitis,,,,,,, 11327,waardenburg_syndrome_type_2,,,,,,,, 11328,waardenburg_syndrome_type_2a,,,,,,,, 11329,waardenburg_syndrome_type_2b,,,,,,,, 11330,waardenburg_syndrome_type_3,,,,,,,E70.3, 11331,waardenburg_syndrome_type_4,,,,,,,, 11332,wagner_syndrome,,,,,,C536075,H35.5,232064001 11333,walbaum_titran_durieux_crepin_syndrome,,,,,,,, 11334,waldenstrom_macroglobulinemia,waldenstrom_macroglobulinemia,,,,,D008258,C88.0,190817009|190818004|35562000 11335,waldmann_disease,waldmann_disease,,,,,,, 11336,walker_dyson_syndrome,,,,,,,, 11337,wallerian_degeneration,wallerian_degeneration,,,,,,, 11338,wandering_spleen,wandering_spleen,,,,,,, 11339,warburg_micro_syndrome,,,,,,,, 11340,warfarin_syndrome,,,,,,,, 11341,warm_antibody_hemolytic_anemia,warm_antibody_autoimmune_hemolytic_anemia,,,,,,, 11342,warman_mulliken_hayward_syndrome,,,,,,,, 11343,warthin_tumor,,,,,,,, 11344,waterhouseafriderichsen_syndrome,,,,,,,, 11345,watson_syndrome,watson_syndrome,,,,,,Q85.0, 11346,wdha_syndrome,,,,,,,, 11347,weaver_johnson_syndrome,,,,,,,, 11348,weber_syndrome,,,,,,,, 11349,webster_deming_syndrome,,,,,,,Q87.8, 11350,wegmann_jones_smith_syndrome,,,,,,,, 11351,weinstein_kliman_scully_syndrome,,,,,,,, 11352,weissenbacher_zweymuller_syndrome,,,,,,,Q77.7, 11353,welander_distal_myopathy_swedish_type,,,,,,C536690,G71.0, 11354,weleber_hecht_bigley_syndrome,,,,,,,, 11355,wellesley_carmen_french_syndrome,,,,,,,, 11356,wells_syndrome,,,,,L98.3,C536693,L98.3, 11357,wells_jankovic_syndrome,,,,,,,, 11358,west_nile_virus,west_nile_virus,,,,,,, 11359,westphal_disease,,,,,,,, 11360,weyers_acrofacial_dysostosis,,,,,,C536695,Q75.4, 11361,weyers_ulnar_ray_oligodactyly_syndrome,,,,,,,, 11362,whim_syndrome,,,,,,C536697,D81.8,234571003 11363,whispering_dysphonia_hereditary,,,,,,,, 11364,whistling_face_syndrome_recessive_form,,,,,,,, 11365,whitaker_syndrome,whitaker_syndrome,,,,,,, 11366,white_forelock_with_malformations,,,,,,C536700,Q87.8, 11367,white_matter_hypoplasia_corpus_callosum_agenesia_and_mental_retardation,,,,,,,, 11368,white_platelet_syndrome,,,,,,,, 11369,wieacker_syndrome,,,,,,C536703,G71.8, 11370,wiedemann_grosse_dibbern_syndrome,,,,,,,, 11371,wiedemann_oldigs_oppermann_syndrome,,,,,,,, 11372,wiedemann_opitz_syndrome,,,,,,,, 11373,wildervanck_syndrome,wildervanck_syndrome,,,,,C536706,Q87.8,79665007 11374,wilkes_stevenson_syndrome,,,,,,,, 11375,willems_de_vries_syndrome,,,,,,,, 11376,wilms_tumor_and_radial_bilateral_aplasia,,,,,,,, 11377,wilson_mikity_syndrome,,,,,P27.0,,, 11378,wilson_turner_x_linked_mental_retardation_syndrome,,,,,,,, 11379,windblown_hand,,,,,,,, 11380,winkelman_bethge_pfeiffer_syndrome,,,,,,,, 11381,winter_harding_hyde_syndrome,,,,,,,, 11382,wisconsin_syndrome,,,,,,,, 11383,wittwer_syndrome,,,,,,,, 11384,wolffian_tumor,,,,,,,, 11385,woods_black_norbury_syndrome,,,,,,,, 11386,woolly_hair_hypotrichosis_everted_lower_lip_and_outstanding_ears,,,,,,C536746,, 11387,woolly_hair_syndrome,woolly_hair_syndrome,,,,,,, 11388,worster_drought_syndrome,,,,,,C536747,, 11389,wright_dyck_syndrome,,,,,,,, 11390,wrinkly_skin_syndrome,wrinkly_skin_syndrome,,,,,C536750,Q82.8,238875009 11391,wt_limb_blood_syndrome,,,,,,C536751,D61.0, 11392,wyburn_masons_syndrome,,,,,,C536752,Q28.2,6729006 11393,x_linked_charcot_marie_tooth_disease_type_5,,,,,,,, 11394,x_linked_creatine_deficiency,,,,,,,E72.8, 11395,x_linked_dominant_scapuloperoneal_myopathy,,,,,,,, 11396,x_linked_lymphoproliferative_syndrome_1,,,,,,,, 11397,x_linked_lymphoproliferative_syndrome_2,,,,,,D008232,D82.3,77121009 11398,x_linked_magnesium_deficiency_with_epstein_barr_virus_infection_and_neoplasia,,,,,E61.2,,D81.8, 11399,x_linked_mental_retardation_craniofacial_abnormal_microcephaly_club,,,,,,,, 11400,x_linked_mental_retardation_de_silva_type,,,,,,,, 11401,x_linked_mental_retardation_gustavson_type,,,,,,,, 11402,x_linked_mental_retardation_type_martinez,,,,,,,, 11403,x_linked_mental_retardation_type_raynaud,,,,,,,, 11404,x_linked_mental_retardation_type_schutz,,,,,,,, 11405,x_linked_mental_retardation_type_wittwer,,,,,,,, 11406,x_linked_thrombocytopenia,,,,,,,D69.4, 11407,x_linked_visceral_heterotaxy_1,,,,,,,, 11408,xanthinuria_type_1,,,,,,,E79.8, 11409,xanthinuria_type_2,,,,,,,E79.8, 11410,xanthogranulomatous_sialadenitis,,,,,,,, 11411,xeroderma_pigmentosum_type_7,,,,,,,, 11412,xeroderma_pigmentosum_type_1,,,,,,,, 11413,xeroderma_pigmentosum_type_2,,,,,,,, 11414,xeroderma_pigmentosum_type_3,,,,,,,, 11415,xeroderma_pigmentosum_type_5,,,,,,,, 11416,xeroderma_pigmentosum_type_6,,,,,,,, 11417,xeroderma_pigmentosum_type_9,,,,,,,, 11418,xeroderma_pigmentosum_variant_type,,,,,Q82.1,C536766,Q82.1,88877002 11419,xeroderma_talipes_enamel_defects,,,,,,,, 11420,xfe_progeroid_syndrome,,,,,,,, 11421,xk_aprosencephaly,,,,,,C536767,Q04.3,277921008 11422,y_chromosome_pericentric_inversion,,,,,,,, 11423,yemenite_deaf_blind_hypopigmentation_syndrome,yemenite_deaf-blind_hypopigmentation_syndrome,,,,,C536771,, 11424,yorifuji_okuno_syndrome,,,,,,,, 11425,young_hughes_syndrome,,,,,,,, 11426,young_syndrome,youngs_syndrome,,,,,C536718,,233666007 11427,yunis_varon_syndrome,,,,,,C536719,Q87.8, 11428,yusho_disease,yusho_disease,,,,,,, 11429,zadik_barak_levin_syndrome,,,,,,,, 11430,zap_70_deficiency,zap70_deficiency,,,,,,, 11431,zazam_sheriff_phillips_syndrome,zazam_sheriff_phillips_syndrome,,,,,,, 11432,zechi_ceide_syndrome,,,,,,,Q87.8, 11433,zellweger_spectrum,,,,,,,, 11434,zerres_rietschel_majewski_syndrome,,,,,,,, 11435,zlotogora_syndrome,zlotogora_syndrome,,,,,C536726,, 11436,zollinger_ellison_syndrome,zollinger-ellison_syndrome,,,,,D015043|D015408,E16.4,16189002|302824004|53132006 11437,zori_stalker_williams_syndrome,,,,,,,, 11438,zunich_neuroectodermal_syndrome,,,,,,,, 11439,zuskas_disease,,,,,,,, 11440,zygomycosis,zygomycosis,,,,B46|B46.5|B46.9,D009091|D020096,B46,59277005|76627001 11441,10p13_p14_deletion_syndrome,,,,,,,, 11442,11_beta_hydroxylase_deficient_congenital_adrenal_hyperplasia,,,,,,,, 11443,11p15_p14_deletion_syndrome,,,,,,,, 11444,17_alpha_hydroxylase_deficient_congenital_adrenal_hyperplasia,,,,,,,, 11445,17_beta_hydroxysteroid_dehydrogenase_iii_deficiency,,,,,,,E29.1, 11446,17_beta_hydroxysteroid_dehydrogenase_x_deficiency,,,,,,C536080,E71.3,237998000 11447,17_linked_subcortical_band_heterotopia,,,,,,,, 11448,17q2131_microdeletion_syndrome,,,,,,,Q93.5, 11449,1q211_deletion,,,,,,,, 11450,24_dienoyl_coa_reductase_deficiency,,,,,,,, 11451,22q112_distal_deletion_syndrome,,,,,,,, 11452,2p161_p15_deletion_syndrome,,,,,,,, 11453,3_beta_hydroxysteroid_dehydrogenase_deficient_congenital_adrenal_hyperplasia,,,,,,,, 11454,3_hydroxy_3_methylglutaryl_coa_synthase_2_deficiency,,,,,,,, 11455,3_hydroxy_3_methylglutaryl_coenzyme_a_lyase_deficiency,,,,,,,, 11456,3_hydroxyacyl_coenzyme_a_dehydrogenase_deficiency,,,,,,,, 11457,3_m_syndrome_ccdc8_related,,,,,,,, 11458,3_m_syndrome_cul7_related,,,,,,,, 11459,3_m_syndrome_obsl1_related,,,,,,,, 11460,3_methylglutaconic_aciduria_type_1,,,,,,,E71.1,237951008 11461,3_methylglutaconic_aciduria_type_5,,,,,,,E71.1, 11462,3q29_deletion_syndrome,,,,,,,, 11463,5q22_deletion_syndrome,,,,,,,, 11464,6_pyruvoyltetrahydropterin_synthase_deficiency,6-pyruvoyltetrahydropterin_synthase_deficiency,,,,,,, 11465,abca12_related_autosomal_recessive_congenital_ichthyosis,,,,,,,, 11466,abca1_associated_familial_high_density_lipoprotein_deficiency,,,,,,,, 11467,abca1_related_disorders,,,,,,,, 11468,abca1_related_familial_high_density_lipoprotein_deficiency,,,,,,,, 11469,abca3_related_pulmonary_surfactant_metabolism_dysfunction,,,,,,,, 11470,abca4_related_retinitis_pigmentosa,,,,,,,, 11471,abca4_related_stargardt_disease_1,,,,,,,, 11472,abcb11_related_intrahepatic_cholestasis,,,,,,,, 11473,abcc8_related_hyperinsulinism,,,,,,,, 11474,abcc8_related_permanent_neonatal_diabetes_mellitus,,,,,,,, 11475,abcc8_related_transient_neonatal_diabetes_mellitus_2,,,,,,,, 11476,abcc9_related_dilated_cardiomyopathy,,,,,,,, 11477,abcc9_related_familial_atrial_fibrillation,,,,,,,, 11478,abducens_palsy,abducens_palsy,,,,,,, 11479,achalasia_addisonianism_alacrima_syndrome,,,,,,,, 11480,achromatopsia_4,,,,,,,, 11481,achromatopsia_5,,,,,,,, 11482,acid_labile_subunit_deficiency,,,,,,,, 11483,acrodysostosis_1_with_or_without_hormone_resistance,,,,,,,, 11484,acrodysostosis_2_with_or_without_hormone_resistance,,,,,,,, 11485,acro_renal_ocular_syndrome,,,,,,,, 11486,acta1_related_congenital_fiber_type_disproportion,,,,,,,, 11487,acta1_related_nemaline_myopathy,,,,,,,, 11488,acta2_related_thoracic_aortic_aneurysms_and_aortic_dissections,,,,,,,, 11489,actc1_related_dilated_cardiomyopathy,,,,,,,, 11490,actc1_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 11491,acth_deficiency,,,,,,,E23.6, 11492,actn2_related_dilated_cardiomyopathy,,,,,,,, 11493,actn2_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 11494,acute_hepatic_porphyria,,,,,,,E80.2, 11495,acute_myeloid_leukemia_susceptibility_gata2_related,,,,,,,, 11496,acvr2b_related_visceral_heterotaxy,,,,,,,, 11497,acvrl1_related_hereditary_hemorrhagic_telangiectasia,,,,,,,, 11498,acyl_coa_dehydrogenase_9_deficiency,,,,,,,E71.3, 11499,acyl_coa_dehydrogenase_short_branched_chain_deficiency,,,,,,,E71.1, 11500,adams_oliver_syndrome_1,,,,,,,, 11501,adamts10_related_weill_marchesani_syndrome,,,,,,,, 11502,adult_i_blood_group_with_or_without_congenital_cataract,,,,,,,, 11503,agammaglobulinemia_1_autosomal_recessive,,,,,,,, 11504,agenesis_of_the_corpus_callosum_with_mental_retardation_ocular_coloboma_and_micrognathia,,,,,,,Q87.8, 11505,age_related_macular_degeneration_1,,,,,,,, 11506,age_related_macular_degeneration_2,,,,,,,, 11507,age_related_macular_degeneration_3,,,,,,,, 11508,age_related_macular_degeneration_4,,,,,,,, 11509,age_related_macular_degeneration_5,,,,,,,, 11510,age_related_macular_degeneration_6,,,,,,,, 11511,age_related_macular_degeneration_7,,,,,,,, 11512,age_related_macular_degeneration_8,,,,,,,, 11513,age_related_macular_degeneration_9,,,,,,,, 11514,agrn_related_congenital_myasthenic_syndrome,,,,,,,, 11515,ahi1_related_joubert_syndrome,,,,,,,, 11516,aicardi_goutieres_syndrome_multi_gene_panels,,,,,,,, 11517,aipl1_related_leber_congenital_amaurosis,,,,,,,, 11518,aipl1_related_retinitis_pigmentosa,,,,,,,, 11519,albinism_multi_gene_panels,,,,,,,, 11520,aldh18a1_related_cutis_laxa,,,,,,,, 11521,alopecia_and_t_cell_immunodeficiency,,,,,,,, 11522,alox12b_related_autosomal_recessive_congenital_ichthyosis,,,,,,,, 11523,aloxe3_related_autosomal_recessive_congenital_ichthyosis,,,,,,,, 11524,alpha_b_crystallinopathy,,,,,,,, 11525,alpha_methylacyl_coa_racemase_deficiency,,,,,,,, 11526,alveolar_capillary_dysplasia_with_misalignment_of_pulmonary_veins,,,,,,,, 11527,alzheimer_disease_risk_factor_apoe_genotype,,,,,,,, 11528,alzheimer_disease_type_5,,,,,,,, 11529,amelogenesis_imperfecta_hypomaturation_type_iia1,,,,,,,, 11530,amelogenesis_imperfecta_hypomaturation_type_iia2,,,,,,,, 11531,amelogenesis_imperfecta_hypomaturation_type_iia3,,,,,,,, 11532,amelogenesis_imperfecta_type_1e,,,,,,,, 11533,amelogenesis_imperfecta_type_ib,,,,,,,K00.5,109476006 11534,amelogenesis_imperfecta_type_ic,,,,,,,, 11535,amelogenesis_imperfecta_type_iii,,,,,,,K00.5, 11536,amelogenesis_imperfecta_type_iv,,,,,,,K00.5,109472008 11537,amino_adipic_aciduria,,,,,,,, 11538,amish_infantile_epilepsy_syndrome,,,,,,,E77.8, 11539,amt_related_glycine_encephalopathy,,,,,,,, 11540,amyotrophic_lateral_sclerosis_multi_gene_panels,,,,,,,, 11541,amyotrophic_lateral_sclerosis_with_frontotemporal_dementia,,,,,,,, 11542,andersen_syndrome_type_1,,,,,,,, 11543,andersen_syndrome_type_2,,,,,,,, 11544,angiokeratoma_corporis_diffusum_with_arteriovenous_fistulas,,,,,,,, 11545,ang_related_amyotrophic_lateral_sclerosis,,,,,,,, 11546,anhaptoglobinemia,,,,,,,, 11547,aniridia_cerebellar_ataxia_and_mental_retardation,,,,,,,, 11548,ankrd1_related_dilated_cardiomyopathy,,,,,,,, 11549,anophthalmia_esophageal_atresia_genital_abnormalities_syndrome,,,,,,,, 11550,aplasia_of_lacrimal_and_salivary_glands,,,,,,,Q10.4|Q38.4, 11551,aplastic_anemia_ifng_related,,,,,,,, 11552,apoa1_associated_familial_high_density_lipoprotein_deficiency,,,,,,,, 11553,apoa1_related_familial_visceral_amyloidosis,,,,,,,, 11554,apolipoprotein_c_ii_deficiency,,,,,,,, 11555,aptx_related_coenzyme_q10_deficiency,,,,,,,, 11556,arhgef9_related_hyperekplexia,,,,,,,, 11557,arid1a_related_coffin_siris_syndrome,,,,,,,, 11558,arid1b_related_coffin_siris_syndrome,,,,,,,, 11559,arl13b_related_joubert_syndrome,,,,,,,, 11560,arl6_related_bardet_biedl_syndrome,,,,,,,, 11561,arl6_related_retinitis_pigmentosa,,,,,,,, 11562,arrhythmogenic_right_ventricular_dysplasia_cardiomyopathy_1,,,,,,,, 11563,arrhythmogenic_right_ventricular_dysplasia_cardiomyopathy_2,,,,,,,, 11564,arrhythmogenic_right_ventricular_dysplasia_cardiomyopathy_3,,,,,,,, 11565,arrhythmogenic_right_ventricular_dysplasia_cardiomyopathy_4,,,,,,,, 11566,arrhythmogenic_right_ventricular_dysplasia_cardiomyopathy_5,,,,,,,, 11567,arrhythmogenic_right_ventricular_dysplasia_cardiomyopathy_6,,,,,,,, 11568,arrhythmogenic_right_ventricular_dysplasia_cardiomyopathy_7,,,,,,,, 11569,arrhythmogenic_right_ventricular_dysplasia_cardiomyopathy_8,,,,,,,, 11570,arrhythmogenic_right_ventricular_dysplasia_cardiomyopathy_9,,,,,,,, 11571,arrhythmogenic_right_ventricular_dysplasia_cardiomyopathy_multi_gene_panels,,,,,,,, 11572,arrhythmogenic_right_ventricular_dysplasia_cardiomyopathy10,,,,,,,, 11573,arrhythmogenic_right_ventricular_dysplasia_cardiomyopathy11,,,,,,,, 11574,arrhythmogenic_right_ventricular_dysplasia_cardiomyopathy12,,,,,,,, 11575,arthrogryposis_multiple_congenita_ophthalmoplegia_ptosis,,,,,,,, 11576,arthrogryposis_distal_type_1b,,,,,,,, 11577,arx_related_disorders,,,,,,,, 11578,ashkenazi_jewish_carrier_test_multi_gene_panels,,,,,,,, 11579,asphyxiating_thoracic_dystrophy_1,,,,,,,, 11580,asphyxiating_thoracic_dystrophy_2,,,,,,,, 11581,asphyxiating_thoracic_dystrophy_3,,,,,,C537571,Q77.2, 11582,asphyxiating_thoracic_dystrophy_4,,,,,,,, 11583,asphyxiating_thoracic_dystrophy_5,,,,,,,, 11584,atp1a2_related_alternating_hemiplegia_of_childhood,,,,,,,, 11585,atp1a3_related_alternating_hemiplegia_of_childhood,,,,,,,, 11586,atp7a_related_distal_motor_neuropathy,,,,,,,, 11587,atp8b1_related_intrahepatic_cholestasis,,,,,,,, 11588,atrial_septal_defect_3,,,,,,,, 11589,atrial_septal_defect_5,,,,,,,, 11590,atrichia_with_papular_lesions,atrichia_with_papular_lesions,,,,,,L65.8, 11591,atypical_neuroaxonal_dystrophy,,,,,,,, 11592,atypical_variants_of_fabry_disease,,,,,,,, 11593,atypical_werner_syndrome,,,,,,,E34.8, 11594,auriculocondylar_syndrome_2,,,,,,,, 11595,autism_multi_gene_panels,,,,,,,, 11596,autoimmune_lymphoproliferative_syndrome_type_0,,,,,,,, 11597,autoimmune_lymphoproliferative_syndrome_type_ia,,,,,,,, 11598,autoimmune_lymphoproliferative_syndrome_type_ib,,,,,,,, 11599,autoimmune_lymphoproliferative_syndrome_type_ii,,,,,,,, 11600,autoinflammation_lipodystrophy_and_dermatosis_syndrome,,,,,,,, 11601,autosomal_dominant_progressive_external_ophthalmoplegia,,,,,,,, 11602,autosomal_dominant_type_1_porencephaly,,,,,,,, 11603,autosomal_recessive_juvenile_amyotrophic_lateral_sclerosis,,,,,,,, 11604,autosomal_recessive_myosclerosis_myopathy,,,,,,,, 11605,autosomal_recessive_progressive_external_ophthalmoplegia,,,,,,,, 11606,autosomal_recessive_sensory_neuropathy_with_spastic_paraplegia,,,,,,,, 11607,azoospermia_due_to_perturbations_of_meiosis,azoospermia_due_to_perturbations_of_meiosis,,,,,,, 11608,b9d1_related_meckel_syndrome,,,,,,,, 11609,b9d2_related_meckel_syndrome,,,,,,,, 11610,baat_related_familial_hypercholanemia,,,,,,,, 11611,bag3_related_dilated_cardiomyopathy,,,,,,,, 11612,bag3_related_myofibrillar_myopathy,,,,,,,G71.8, 11613,baraitser_winter_syndrome_1,,,,,,,, 11614,baraitser_winter_syndrome_2,,,,,,,, 11615,bard1_related_susceptibility_to_breast_cancer,,,,,,,, 11616,bardet_biedl_syndrome_multi_gene_panels,,,,,,,, 11617,bare_lymphocyte_syndrome_type_ii_complementation_group_a,,,,,,,D81.7, 11618,bare_lymphocyte_syndrome_type_ii_complementation_group_d,,,,,,,, 11619,bare_lymphocyte_syndrome_type_ii_complementation_group_e,,,,,,,, 11620,bartter_syndrome_type_4a,,,,,,,, 11621,bartter_syndrome_type_4b,,,,,,,, 11622,bbs10_related_bardet_biedl_syndrome,,,,,,,, 11623,bbs12_related_bardet_biedl_syndrome,,,,,,,, 11624,bbs1_related_bardet_biedl_syndrome,,,,,,,, 11625,bbs2_related_bardet_biedl_syndrome,,,,,,,, 11626,bbs4_related_bardet_biedl_syndrome,,,,,,,, 11627,bbs5_related_bardet_biedl_syndrome,,,,,,,, 11628,bbs7_related_bardet_biedl_syndrome,,,,,,,, 11629,bbs9_related_bardet_biedl_syndrome,,,,,,,, 11630,bcor_related_lenz_microphthalmia_syndrome,,,,,,,, 11631,benign_familial_infantile_seizures_2,,,,,,,, 11632,benign_hereditary_chorea,,,,,,,G25.5, 11633,benign_neonatal_epilepsy_1,,,,,,,, 11634,benign_neonatal_epilepsy_2,,,,,,,, 11635,bernard_soulier_syndrome_type_a,,,,,,,, 11636,bernard_soulier_syndrome_type_b,,,,,,,, 11637,bernard_soulier_syndrome_type_c,,,,,,,, 11638,best1_related_retinitis_pigmentosa,,,,,,,, 11639,beta_propeller_protein_associated_neurodegeneration,,,,,,,G23.0, 11640,beta_ureidopropionase_deficiency,,,,,,,E79.8,124511000 11641,bh4_deficient_hyperphenylalaninemia_c,,,,,,C537896,E70.1,58256000 11642,bile_acid_synthesis_defect_congenital_3,,,,,,,K76.8, 11643,blue_mono_cone_monochromatic_type_colorblindness,,,,,,,, 11644,bmpr1a_related_juvenile_polyposis,,,,,,,, 11645,bone_marrow_failure_familial,,,,,,,, 11646,brachydactyly_type_a1_b,,,,,,,, 11647,brachydactyly_type_d,,,,,,,, 11648,brachydactyly_type_b1,,,,,,,Q73.8,389168002 11649,brachydactyly_type_b2,,,,,,,Q73.8, 11650,braf_related_cardiofaciocutaneous_syndrome,,,,,,,, 11651,braf_related_leopard_syndrome,,,,,,,, 11652,braf_related_noonan_syndrome,,,,,,,, 11653,brain_small_vessel_disease_with_hemorrhage,,,,,,,, 11654,brca1_hereditary_breast_and_ovarian_cancer,,,,,,,, 11655,brca2_hereditary_breast_and_ovarian_cancer,,,,,,,, 11656,brca2_related_fanconi_anemia,,,,,,,, 11657,brip1_related_breast_cancer,,,,,,,, 11658,brip1_related_fanconi_anemia,,,,,,,, 11659,brittle_cornea_syndrome_1,,,,,,,, 11660,brittle_cornea_syndrome_2,,,,,,,, 11661,bronchiectasis_with_or_without_elevated_sweat_chloride_2,,,,,,,, 11662,brugada_syndrome_1,,,,,,,, 11663,brugada_syndrome_2,,,,,,,, 11664,brugada_syndrome_5,,,,,,,, 11665,brugada_syndrome_6,,,,,,,, 11666,brugada_syndrome_7,,,,,,,, 11667,brugada_syndrome_8,,,,,,,, 11668,brugada_syndrome_multi_gene_panels,,,,,,,, 11669,brunner_syndrome,brunner_syndrome,,,,,,E70.8|F54, 11670,c10orf2_related_ataxia_neuropathy_spectrum_disorders,,,,,,,, 11671,c10orf2_related_mitochondrial_dna_depletion_syndrome_hepatocerebral_form,,,,,,,, 11672,c2orf71_related_retinitis_pigmentosa,,,,,,,, 11673,c3_deficiency_autosomal_recessive,,,,,,,, 11674,c3_related_atypical_hemolytic_uremic_syndrome,,,,,,,, 11675,c5orf42_related_joubert_syndrome,,,,,,,, 11676,c8orf37_related_retinitis_pigmentosa,,,,,,,, 11677,c9orf72_related_amyotrophic_lateral_sclerosis_frontotemporal_dementia,,,,,,,, 11678,ca4_related_retinitis_pigmentosa,,,,,,,, 11679,cabc1_related_coenzyme_q10_deficiency,,,,,,,, 11680,cacna1f_related_x_linked_congenital_stationary_night_blindness,,,,,,,, 11681,cacna1s_related_malignant_hyperthermia_susceptibility,,,,,,,, 11682,cacnb4_related_juvenile_myoclonic_epilepsy,,,,,,,, 11683,cancer_hereditary_breast_ovarian_uterine_cancer_multi_gene_panels,,,,,,,, 11684,cancer_hereditary_colorectal_cancer_multi_gene_panels,,,,,,,, 11685,cancer_lynch_syndrome_hereditary_non_polyposis_colon_cancer_multi_gene_panels,,,,,,,, 11686,capillary_malformation_arteriovenous_malformation_syndrome,,,,,,,Q27.3, 11687,cardiomyopathy_multi_gene_panels,,,,,,,, 11688,cardiomyopathy_and_deafness,,,,,,,, 11689,cardiomyopathy_with_or_without_skeletal_myopathy,,,,,,,, 11690,cardiovascular_disease_risk_factor_,,,,,,,, 11691,casp10_related_autoimmune_lymphoproliferative_syndrome,,,,,,,G71.2,240081004 11692,casq2_related_catecholaminergic_polymorphic_ventricular_tachycardia,,,,,,,, 11693,casr_associated_familial_isolated_hypoparathyroidism,,,,,,,, 11694,casr_related_disorders,,,,,,,, 11695,casr_related_familial_isolated_hypoparathyroidism,,,,,,,, 11696,cataract_age_related_cortical_2,,,,,,,, 11697,cataract_autosomal_recessive_congenital_1,,,,,,,, 11698,cataract_autosomal_recessive_congenital_4,,,,,,,, 11699,cataract_autosomal_recessive_congenital_5,,,,,,,, 11700,cataract_congenital_nuclear_autosomal_recessive_2,,,,,,,, 11701,cataract_congenital_nuclear_autosomal_recessive_3,,,,,,,, 11702,cataract_cortical_pulverulent_late_onset,,,,,,,, 11703,cataracts_autosomal_dominant,congenital_cataract,,,,Q12.0,,, 11704,cataracts_autosomal_recessive,,,,,,,, 11705,catecholaminergic_polymorphic_ventricular_tachycardia_multi_gene_panels,,,,,,,, 11706,catsper_related_nonsyndromic_male_infertility,,,,,,,N46, 11707,cav3_related_distal_myopathy,,,,,,,, 11708,cav3_related_hypertrophic_cardiomyopathy,,,,,,,, 11709,cav3_related_isolated_hyperckemia,,,,,,,, 11710,cav3_related_rippling_muscle_disease,,,,,,,, 11711,cav3_related_sudden_infant_death_syndrome,,,,,,,, 11712,cayler_cardiofacial_syndrome,cayler_cardiofacial_syndrome,,,,,,, 11713,cbij,,,,,,,, 11714,cblc,,,,,,,, 11715,cbld,,,,,,,E72.1|E71.1, 11716,cble,,,,,,,, 11717,cblf,,,,,,,, 11718,cblg,,,,,,,, 11719,cc2d2a_related_joubert_syndrome,,,,,,,, 11720,cc2d2a_related_meckel_syndrome,,,,,,,, 11721,cd19_related_common_variable_immune_deficiency,,,,,,,D83.0, 11722,cd46_related_atypical_hemolytic_uremic_syndrome,,,,,,,, 11723,cdc73_related_familial_isolated_hyperparathyroidism,,,,,,,, 11724,cdc73_related_parathyroid_carcinoma,,,,,,,, 11725,cdk4_related_cutaneous_malignant_melanoma,,,,,,,, 11726,cdkl5_related_angelman_like_syndrome,,,,,,,, 11727,cdkn2a_related_cutaneous_malignant_melanoma,,,,,,,, 11728,cdon_related_holoprosencephaly,,,,,,,, 11729,central_precocious_puberty,,,,,,,E22.8,237816004 11730,centronuclear_myopathy_1,,,,,,,, 11731,centronuclear_myopathy_2,,,,,,,, 11732,centronuclear_myopathy_3,,,,,,,, 11733,cep290_related_bardet_biedl_syndrome,,,,,,,, 11734,cep290_related_joubert_syndrome,,,,,,,, 11735,cep290_related_leber_congenital_amaurosis,,,,,,,, 11736,cep290_related_meckel_syndrome,,,,,,,, 11737,cep41_related_joubert_syndrome,,,,,,,, 11738,cerebellar_ataxia_cayman_type,,,,,,,G11.0, 11739,cerebral_palsy_spastic_quadriplegic_1,,,,,,,, 11740,cerkl_related_retinitis_pigmentosa,,,,,,,, 11741,cetp_related_hyperalphalipoproteinemia,,,,,,,, 11742,cfb_related_atypical_hemolytic_uremic_syndrome,,,,,,,, 11743,cfc1_related_conotruncal_heart_malformations,,,,,,,, 11744,cfc1_related_visceral_heterotaxy,,,,,,,Q89.3,14821001 11745,cfhr1_and_cfhr4_related_atypical_hemolytic_uremic_syndrome,,,,,,,, 11746,cfhr3_and_cfhr1_related_atypical_hemolytic_uremic_syndrome,,,,,,,, 11747,cfhr5_related_dense_deposit_disease_membranoproliferative_glomerulonephritis_type_ii,,,,,,,, 11748,cfh_related_atypical_hemolytic_uremic_syndrome,,,,,,,, 11749,cfh_related_dense_deposit_disease_membranoproliferative_glomerulonephritis_type_ii,,,,,,,, 11750,cfi_related_atypical_hemolytic_uremic_syndrome,,,,,,,, 11751,cfl2_related_nemaline_myopathy,,,,,,,, 11752,cftr_related_hereditary_pancreatitis,,,,,,,, 11753,charcot_marie_tooth_neuropathy,,,,,,,, 11754,charcot_marie_tooth_neuropathy_type_1a,,,,,,,, 11755,charcot_marie_tooth_neuropathy_type_1b,,,,,,,, 11756,charcot_marie_tooth_neuropathy_type_1c,,,,,,,, 11757,charcot_marie_tooth_neuropathy_type_1d,,,,,,,, 11758,charcot_marie_tooth_neuropathy_type_1e,,,,,,,, 11759,charcot_marie_tooth_neuropathy_type_2a1,,,,,,,, 11760,charcot_marie_tooth_neuropathy_type_2a2,,,,,,,, 11761,charcot_marie_tooth_neuropathy_type_2b,,,,,,,, 11762,charcot_marie_tooth_neuropathy_type_2b1,,,,,,,, 11763,charcot_marie_tooth_neuropathy_type_2b2,,,,,,,, 11764,charcot_marie_tooth_neuropathy_type_2c,,,,,,,, 11765,charcot_marie_tooth_neuropathy_type_2d,,,,,,,, 11766,charcot_marie_tooth_neuropathy_type_2g,,,,,,,, 11767,charcot_marie_tooth_neuropathy_type_2h_2k,,,,,,,, 11768,charcot_marie_tooth_neuropathy_type_2i_2j,,,,,,,, 11769,charcot_marie_tooth_neuropathy_type_2l,,,,,,,, 11770,charcot_marie_tooth_neuropathy_type_2n,,,,,,,, 11771,charcot_marie_tooth_neuropathy_type_2o,,,,,,,, 11772,charcot_marie_tooth_neuropathy_type_2p,,,,,,,, 11773,charcot_marie_tooth_neuropathy_type_4b1,,,,,,,, 11774,charcot_marie_tooth_neuropathy_type_4b2,,,,,,,, 11775,charcot_marie_tooth_neuropathy_type_4d,,,,,,,, 11776,charcot_marie_tooth_neuropathy_type_4e,,,,,,,, 11777,charcot_marie_tooth_neuropathy_type_4f,,,,,,,, 11778,charcot_marie_tooth_neuropathy_type_4h,,,,,,,G60.0, 11779,charcot_marie_tooth_neuropathy_type_4j,,,,,,,G60.0, 11780,charcot_marie_tooth_neuropathy_x,,,,,,,G60.0, 11781,charcot_marie_tooth_neuropathy_x_type_2,,,,,,,, 11782,charcot_marie_tooth_neuropathy_x_type_3,,,,,,,, 11783,charcot_marie_tooth_neuropathy_x_type_4,,,,,,,, 11784,chat_related_congenital_myasthenic_syndrome,,,,,,,, 11785,chek2_related_susceptibility_to_breast_and_colorectal_cancer,,,,,,,, 11786,chek2_related_susceptibility_to_breast_cancer,,,,,,,, 11787,childhood_ataxia_with_central_nervous_system_hypomyelination_vanishing_white_matter_multi_gene_panels,,,,,,,, 11788,childhood_myocerebrohepatopathy_spectrum_disorders,,,,,,,, 11789,childhood_restrictive_cardiomyopathy,,,,,,,, 11790,childhood_onset_reducing_body_myopathy_x_linked,,,,,,,, 11791,chitotriosidase_deficiency,,,,,,,, 11792,chkb_related_muscle_diseases,,,,,,,, 11793,cholesterol_desmolase_deficient_congenital_adrenal_hyperplasia,,,,,,,, 11794,chondrodysplasia_punctata_tibia_metacarpal_type,,,,,,,, 11795,chondrodysplasia_punctata_unclassified,,,,,,,, 11796,chondrodysplasia_with_joint_dislocations_grapp_type,,,,,,,, 11797,chorea_and_dementia,,,,,,,, 11798,choreoathetosis_hypothyroidism_and_neonatal_respiratory_distress,,,,,,,E03.1|P22.8, 11799,choroidal_dystrophy_central_areolar_2,,,,,,,, 11800,chrna1_related_congenital_myasthenic_syndrome,,,,,,,, 11801,chrna1_related_multiple_pterygium_syndrome_lethal_type,,,,,,,, 11802,chrna2_related_nocturnal_frontal_lobe_epilepsy_autosomal_dominant,,,,,,,, 11803,chrna4_related_nocturnal_frontal_lobe_epilepsy_autosomal_dominant,,,,,,,, 11804,chrnb1_related_congenital_myasthenic_syndrome,,,,,,,, 11805,chrnb2_related_nocturnal_frontal_lobe_epilepsy_autosomal_dominant,,,,,,,, 11806,chrnd_related_congenital_myasthenic_syndrome,,,,,,,, 11807,chrnd_related_multiple_pterygium_syndrome_lethal_type,,,,,,,, 11808,chrne_related_congenital_myasthenic_syndrome,,,,,,,, 11809,chrng_related_disorders,,,,,,,, 11810,chromosome_11p155_related_russell_silver_syndrome,,,,,,,, 11811,chromosome_7_related_russell_silver_syndrome,,,,,,,, 11812,chronic_and_adult_onset_hexosaminidase_a_deficiency,,,,,,,, 11813,chronic_granulomatous_disease_autosomal_recessive_cytochrome_b_negative,,,,,,,, 11814,chronic_granulomatous_disease_autosomal_recessive_cytochrome_b_positive_type_i_2,,,,,,,, 11815,chronic_granulomatous_disease_autosomal_recessive_cytochrome_b_positive_type_ii_2,,,,,,,, 11816,chronic_granulomatous_disease_autosomal_recessive_cytochrome_b_positive_type_iii,,,,,,,, 11817,chronic_granulomatous_disease_x_linked,,,,,,,, 11818,ck_syndrome,,,,,,,, 11819,classic_fabry_disease,,,,,,,, 11820,classic_rett_syndrome,,,,,,,, 11821,clcf1_related_cold_induced_sweating_syndrome_including_crisponi_syndrome,,,,,,,, 11822,clcn2_related_juvenile_myoclonic_epilepsy,,,,,,,, 11823,cleft_lip_cleft_palate,,,,,Q35-Q37,,, 11824,cleft_lip_congenital_healed,,,,,,,, 11825,cleft_palate_isolated,,,,,,D002972,Q35,253986002|87979003 11826,cleft_soft_palate,,,,,,,, 11827,clrn1_related_retinitis_pigmentosa,,,,,,,, 11828,cnga1_related_retinitis_pigmentosa,,,,,,,, 11829,cngb1_related_retinitis_pigmentosa,,,,,,,, 11830,cngb3_related_stargardt_disease_1,,,,,,,, 11831,cobalamin_metabolism_multi_gene_panels,,,,,D51.2,,D51.2,237934001 11832,coenzyme_q10_deficiency_multi_gene_panels,,,,,,,, 11833,col11a1_related_stickler_syndrome,,,,,,,, 11834,col11a2_related_stickler_syndrome,,,,,,,, 11835,col17a1_related_junctional_epidermolysis_bullosa,,,,,,,, 11836,col2a1_associated_stickler_syndrome,,,,,,,, 11837,col2a1_related_stickler_syndrome,,,,,,,, 11838,col4a3_alport_syndrome_and_thin_basement_membrane_nephropathy,,,,,,,, 11839,col4a4_alport_syndrome_and_thin_basement_membrane_nephropathy,,,,,,,, 11840,col4a5_alport_syndrome,,,,,,,, 11841,col9a1_related_multiple_epiphyseal_dysplasia,,,,,,,, 11842,col9a1_related_stickler_syndrome,,,,,,,, 11843,col9a2_related_multiple_epiphyseal_dysplasia,,,,,,,, 11844,col9a2_related_stickler_syndrome,,,,,,,, 11845,col9a3_related_multiple_epiphyseal_dysplasia,,,,,,,, 11846,collagen_iv_related_nephropathies_alport_syndrome_and_thin_basement_membrane_nephropathy,,,,,,,, 11847,collagen_type_vi_related_autosomal_dominant_limb_girdle_muscular_dystrophy,,,,,,,, 11848,coloboma_congenital_heart_disease_ichthyosiform_dermatosis_mental_retardation_and_ear_anomalies_syndrome,,,,,,,, 11849,colq_related_congenital_myasthenic_syndrome,,,,,,,, 11850,combined_oxidative_phosphorylation_deficiency_1,,,,,,,, 11851,combined_oxidative_phosphorylation_deficiency_10,,,,,,,, 11852,combined_oxidative_phosphorylation_deficiency_12,,,,,,,, 11853,combined_oxidative_phosphorylation_deficiency_2,,,,,,,, 11854,combined_oxidative_phosphorylation_deficiency_3,,,,,,,, 11855,combined_oxidative_phosphorylation_deficiency_4,,,,,,,, 11856,combined_oxidative_phosphorylation_deficiency_5,,,,,,,, 11857,combined_oxidative_phosphorylation_deficiency_6,,,,,,,, 11858,combined_oxidative_phosphorylation_deficiency_7,,,,,,,, 11859,combined_oxidative_phosphorylation_deficiency_8,,,,,,,, 11860,combined_saposin_deficiency,,,,,,,E75.2, 11861,complement_component_c2_deficiency,,,,,,,, 11862,complex_glycerol_kinase_deficiency,,,,,,,, 11863,compton_north_congenital_myopathy,,,,,,,G71.2, 11864,cone_dystrophy_3,,,,,,,H35.5,267613004 11865,cone_rod_dystrophy_11,,,,,,,, 11866,cone_rod_dystrophy_12,,,,,,,, 11867,cone_rod_dystrophy_13,,,,,,,, 11868,cone_rod_dystrophy_15,,,,,,,, 11869,cone_rod_dystrophy_16,,,,,,,, 11870,cone_rod_dystrophy_4,,,,,,,, 11871,cone_rod_dystrophy_7,,,,,,,, 11872,cone_rod_dystrophy_9,,,,,,,, 11873,cone_rod_dystrophy_multi_gene_panels,,,,,,,, 11874,congenital_adrenal_hyperplasia_due_to_apparent_combined_p450c17_and_p450c21_deficiency,,,,,,,, 11875,congenital_aural_atresia,,,,,,,, 11876,congenital_disorders_of_glycosylation_multi_gene_panels,,,,,,,, 11877,congenital_dyserythropoietic_anemia_type_iv,congenital_dyserythropoietic_anemia_type_iv,,,,D64.4,,D64.4, 11878,congenital_fibrosis_of_the_extraocular_muscles_1a,,,,,,,, 11879,congenital_fibrosis_of_the_extraocular_muscles_1b,,,,,,,, 11880,congenital_fibrosis_of_the_extraocular_muscles_2,,,,,,,, 11881,congenital_fibrosis_of_the_extraocular_muscles_3a,,,,,,,, 11882,congenital_fibrosis_of_the_extraocular_muscles_3b,,,,,,,, 11883,congenital_fibrosis_of_the_extraocular_muscles_3c,,,,,,,, 11884,congenital_fibrosis_of_the_extraocular_muscles_4,,,,,,,, 11885,congenital_heart_disease_atrial_septal_defect,,,,,,,, 11886,congenital_hypothyroidism_duox2_related,,,,,,,, 11887,congenital_hypothyroidism_iyd_related,,,,,,,, 11888,congenital_hypothyroidism_nongoitrous_1,,,,,E03.2|E03.8|E03.9,,E03.1, 11889,congenital_hypothyroidism_nongoitrous_2,,,,,,,, 11890,congenital_hypothyroidism_nongoitrous_4,,,,,,,, 11891,congenital_hypothyroidism_tpo_related,,,,,,,, 11892,congenital_indifference_to_pain_autosomal_recessive,,,,,,D000699|D009477,G60.8,128206006|403605007 11893,congenital_lactase_deficiency,,,,,E73.0,,E73.0,5388008 11894,congenital_muscular_dystrophy_due_to_integrin_alpha_7_deficiency,,,,,,,, 11895,congenital_muscular_dystrophy_multi_gene_panels,,,,,,,, 11896,congenital_muscular_dystrophy_lmna_related,,,,,,,, 11897,congenital_myopathy_undefined_nonspecific,,,,,,,, 11898,congenital_neuromuscular_disease_with_uniform_type_1_fiber,,,,,,,, 11899,congenital_nystagmus_6_x_linked,,,,,,,, 11900,congenital_stationary_night_blindness_multi_gene_panels,,,,,,,, 11901,congenital_stationary_night_blindness_autosomal_dominant_1,,,,,,,, 11902,congenital_stationary_night_blindness_autosomal_dominant_2,,,,,,,, 11903,congenital_stationary_night_blindness_autosomal_dominant_3,,,,,,,, 11904,congenital_stationary_night_blindness_type_1b,,,,,,,, 11905,congenital_stationary_night_blindness_type_1c,,,,,,,, 11906,congenital_stationary_night_blindness_type_1d,,,,,,,, 11907,congenital_stationary_night_blindness_type_2b,,,,,,,, 11908,coq2_related_coenzyme_q10_deficiency,,,,,,,, 11909,coq9_related_coenzyme_q10_deficiency,,,,,,,, 11910,corneal_endothelial_dystrophy_2_autosomal_recessive,,,,,,,, 11911,corneal_fleck_dystrophy,fleck_corneal_dystrophy,,,,,,H18.5, 11912,cortical_dysplasia_complex_with_other_brain_malformations,,,,,,,, 11913,cortical_dysplasia_focal_epilepsy_syndrome,,,,,,,Q04.8, 11914,corticobasal_degeneration_mapt_related,,,,,,,, 11915,corticosterone_methyloxidase_type_i_deficiency,,,,,,,, 11916,corticosterone_methyloxidase_type_ii_deficiency,,,,,,,, 11917,cr2_related_common_variable_immune_deficiency,,,,,,,, 11918,cr2_related_susceptibility_to_systemic_lupus_erythematosus,,,,,,,, 11919,cranioectodermal_dysplasia_1,,,,,,,, 11920,cranioectodermal_dysplasia_2,,,,,,,, 11921,cranioectodermal_dysplasia_3,,,,,,,, 11922,cranioectodermal_dysplasia_4,,,,,,,, 11923,craniosynostosis_nonsyndromic,,,,,,,, 11924,craniosynostosis_syndromic,,,,,,,, 11925,crb1_related_leber_congenital_amaurosis,,,,,,,, 11926,crb1_related_retinitis_pigmentosa,,,,,,,, 11927,crebbp_related_rubinstein_taybi_syndrome,,,,,,,, 11928,crh_related_related_nocturnal_frontal_lobe_epilepsy_autosomal_dominant,,,,,,,, 11929,crlf1_related_cold_induced_sweating_syndrome_including_crisponi_syndrome,,,,,,,, 11930,crtap_related_osteogenesis_imperfecta,,,,,,,, 11931,crx_related_leber_congenital_amaurosis,,,,,,,, 11932,crx_related_retinitis_pigmentosa,,,,,,,, 11933,csf2ra_related_pulmonary_surfactant_metabolism_dysfunction,,,,,,,, 11934,csrp3_related_dilated_cardiomyopathy,,,,,,,, 11935,csrp3_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 11936,ctrc_related_hereditary_pancreatitis,,,,,,,, 11937,cutaneous_malignant_melanoma,,,,,,,, 11938,cutis_laxa_with_severe_pulmonary_gastrointestinal_and_urinary_abnormalities,,,,,,,Q82.8, 11939,cyp1b1_related_primary_congenital_glaucoma,,,,,,,, 11940,cyp4f22_related_autosomal_recessive_congenital_ichthyosis,,,,,,,, 11941,d_2_hydroxyglutaric_aciduria_1,,,,,,,, 11942,d_2_hydroxyglutaric_aciduria_2,,,,,,,, 11943,dappled_diaphyseal_dysplasia,,,,,,,Q77.3,389262009 11944,dcx_related_lissencephaly,,,,,,,, 11945,dcx_related_subcortical_band_heterotopia,,,,,,,, 11946,ddb2_related_xeroderma_pigmentosum,,,,,,,, 11947,deafness_infertility_syndrome,,,,,,,Q93.5, 11948,delayed_late_onset_adenosine_deaminase_deficiency,,,,,,,, 11949,dementia_with_epilepsy_mapt_related,,,,,,,, 11950,dentin_dysplasia_type_ii,,,,,,,K00.5, 11951,des_related_dilated_cardiomyopathy,,,,,,,, 11952,dfna_1_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11953,dfna_2b_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11954,dfna_3_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11955,dfna_4_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11956,dfna_5_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11957,dfna_6_14_38_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11958,dfna_8_12_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11959,dfna_9_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11960,dfna10_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11961,dfna11_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11962,dfna13_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11963,dfna15_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11964,dfna17_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11965,dfna20_26_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11966,dfna22_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11967,dfna23_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11968,dfna25_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11969,dfna28_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11970,dfna36_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11971,dfna44_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11972,dfna48_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11973,dfna50_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11974,dfna6_14_38_nonsyndromic_low_frequency_sensorineural_hearing_loss,,,,,,,, 11975,dfnb_1_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11976,dfnb_2_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11977,dfnb_3_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11978,dfnb_6_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11979,dfnb_7_11_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11980,dfnb_8_10_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11981,dfnb12_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11982,dfnb16_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11983,dfnb18_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11984,dfnb21_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11985,dfnb22_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11986,dfnb23_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11987,dfnb24_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11988,dfnb28_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11989,dfnb29_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11990,dfnb30_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11991,dfnb31_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11992,dfnb35_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11993,dfnb36_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11994,dfnb37_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11995,dfnb39_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11996,dfnb49_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11997,dfnb59_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11998,dfnb61_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 11999,dfnb63_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 12000,dfnb67_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 12001,dfnb77_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 12002,dfnb79_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 12003,dfnx2_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 12004,dfnx4_dfn6_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 12005,dhdds_related_retinitis_pigmentosa,,,,,,,, 12006,dhh_related_46xy_dsd_and_46xy_cgd,,,,,,,, 12007,diabetes_and_hearing_loss,,,,,,,, 12008,diabetes_mellitus_insulin_resistant_with_acanthosis_nigricans,,,,,,,E11,237651005 12009,diabetes_mellitus_kcnj11_related_transient_neonatal,,,,,,,, 12010,diabetes_mellitus_neonatal_with_congenital_hypothyroidism,,,,,P70.2,,, 12011,diabetes_mellitus_noninsulin_dependent_with_acanthosis_nigricans_and_hypertension,,,,,,,, 12012,diabetes_mellitus_permanent_neonatal_with_cerebellar_agenesis,,,,,,,, 12013,diaphanospondylodysostosis,,,,,,,Q78.8, 12014,diarrhea_with_microvillus_atrophy_2,,,,,,,, 12015,digeorge_syndrome_2,,,,,,,, 12016,dih1_related_congenital_diaphragmatic_hernia,,,,,,,, 12017,dihydrolipoamide_acetyltransferase_e2_deficiency,dihydrolipoamide_acetyltransferase,,,,,,, 12018,dihydrolipoamide_dehydrogenase_e3_deficiency,,,,,,,, 12019,dihydropyrimidinase_deficiency,,,,,,,, 12020,dilated_cardiomyopathy_with_quadriceps_myopathy,,,,,,,, 12021,distal_congenital_nonprogressive_spinal_muscular_atrophy,,,,,,,, 12022,distal_hereditary_motor_neuronopathy_type_viib,,,,,,,G12.2, 12023,distal_hereditary_motor_neuronopathy_type_iia,,,,,,,G12.2, 12024,distal_hereditary_motor_neuronopathy_type_iib,,,,,,,, 12025,distal_hereditary_motor_neuronopathy_type_iic,,,,,,,, 12026,distal_hereditary_motor_neuropathy_type_v,,,,,,,G12.2, 12027,distal_myopathy_4,,,,,,,, 12028,distal_renal_tubular_acidosis_with_progressive_nerve_deafness,,,,,,,, 12029,distal_spinal_muscular_atrophy_4,,,,,,,, 12030,dkc1_related_dyskeratosis_congenita,,,,,,,, 12031,dll3_related_spondylocostal_dysostosis_autosomal_recessive,,,,,,,, 12032,dmd_associated_dilated_cardiomyopathy,dilated_cardiomyopathy,,,,,,, 12033,dmd_related_dilated_cardiomyopathy,,,,,,,, 12034,dnajb6_related_myofibrillar_myopathy,,,,,,,, 12035,dnajc5_related_neuronal_ceroid_lipofuscinosis,,,,,,,, 12036,dnase1_related_susceptibility_to_systemic_lupus_erythematosus,,,,,,,, 12037,dok7_related_congenital_myasthenic_syndrome,,,,,,,, 12038,dok7_related_fetal_akinesia_deformation_sequence,,,,,,,, 12039,dominant_dystrophic_epidermolysis_bullosa,dominant_dystrophic_epidermolysis_bullosa,,,,,,, 12040,dopa_responsive_dystonia_due_to_sepiapterin_reductase_deficiency,,,,,,,G24.1, 12041,dopa_responsive_dystonia_multi_gene_panels,,,,,,,, 12042,down_syndrome_critical_region,,,,,,,, 12043,dsg2_related_dilated_cardiomyopathy,,,,,,,, 12044,dsp_related_ectodermal_dysplasia_skin_fragility_syndrome,,,,,,,, 12045,duarte_variant_galactosemia,,,,,,,, 12046,dws_related_dandy_walker_syndrome,,,,,,,, 12047,dysalbuminemic_hyperthyroxinemia,,,,,,,, 12048,dystonia_6,,,,,,,, 12049,dystonia_7,,,,,,,, 12050,dystonia_9,,,,,,,, 12051,e3_binding_protein_component_x_deficiency,e3_binding_protein,,,,,,, 12052,early_infantile_epileptic_encephalopathy_multi_gene_panels,,,,,,,, 12053,early_onset_severe_reducing_body_myopathy_x_linked,,,,,,,G71.2,42779002 12054,ece1_related_hirschsprung_disease,,,,,,,, 12055,ectodermal_dysplasia_anhidrotic_with_t_cell_immunodeficiency,,,,,,,, 12056,ectopia_lentis_et_pupillae,,,,,,,, 12057,ectopia_lentis_isolated,,,,,,,, 12058,ectrodactyly_with_tibial_hemimelia,,,,,,,Q73.8, 12059,edn3_related_hirschsprung_disease,,,,,,,, 12060,ednrb_related_hirschsprung_disease,,,,,,,, 12061,efhc1_related_juvenile_myoclonic_epilepsy,,,,,,,, 12062,ehlers_danlos_syndrome_type_via,,,,,,,, 12063,ehlers_danlos_syndrome_type_viib,,,,,,,, 12064,ehlers_danlos_syndrome_classic_type_col1a1_related,,,,,,,, 12065,ehlers_danlos_syndrome_classic_type_col5a1_related,,,,,,,, 12066,ehlers_danlos_syndrome_classic_type_col5a2_related,,,,,,,, 12067,ehlers_danlos_syndrome_musculocontractural_type,,,,,,,Q79.6, 12068,eif2b1_related_childhood_ataxia_with_central_nervous_system_hypomyelination_vanishing_white_matter,,,,,,,, 12069,eif2b2_related_childhood_ataxia_with_central_nervous_system_hypomyelination_vanishing_white_matter,,,,,,,, 12070,eif2b3_related_childhood_ataxia_with_central_nervous_system_hypomyelination_vanishing_white_matter,,,,,,,, 12071,eif2b4_related_childhood_ataxia_with_central_nervous_system_hypomyelination_vanishing_white_matter,,,,,,,, 12072,eif2b5_related_childhood_ataxia_with_central_nervous_system_hypomyelination_vanishing_white_matter,,,,,,,, 12073,ejm2_related_juvenile_myoclonic_epilepsy,,,,,,,, 12074,ejm3_related_juvenile_myoclonic_epilepsy,,,,,,,, 12075,ejm4_related_juvenile_myoclonic_epilepsy,,,,,,,, 12076,elliptocytosis_2,,,,,,D004612,D58.1,191169008 12077,elliptocytosis_3,,,,,,,, 12078,eln_related_cutis_laxa,,,,,,,, 12079,emd_related_emery_dreifuss_muscular_dystrophy_x_linked,,,,,,,, 12080,end_stage_renal_disease_nondiabetic_susceptibility_to,,,,,,,, 12081,eng_related_hereditary_hemorrhagic_telangiectasia,,,,,,,, 12082,ep300_related_rubinstein_taybi_syndrome,,,,,,,, 12083,epcam_related_lynch_syndrome,,,,,,,, 12084,epidermolysis_bullosa_simplex_with_migratory_circinate_erythema,,,,,,,Q81.0, 12085,epidermolysis_bullosa_simplex_with_muscular_dystrophy,epidermolysis_bullosa_simplex_with_muscular_dystrophy,,,,,,G71.0|Q81.0, 12086,epidermolysis_bullosa_simplex_other_generalized,,,,,,,, 12087,epilepsy_multi_gene_panels,,,,,,,, 12088,epilepsy_with_neurodevelopmental_defects,,,,,,,, 12089,epilepsy_childhood_absence_susceptibility_to_2,,,,,,,,50866000 12090,epilepsy_childhood_absence_susceptibility_to_4,,,,,,,, 12091,epilepsy_childhood_absence_susceptibility_to_5,,,,,,,, 12092,epilepsy_childhood_absence_susceptibility_to_6,,,,,,,, 12093,epilepsy_familial_temporal_lobe_5,,,,,,,, 12094,epilepsy_idiopathic_generalized_susceptibility_to_8,,,,,,,, 12095,epilepsy_juvenile_absence_susceptibility_to_1,,,,,,C535495,G40.3,230413002 12096,epilepsy_juvenile_absence_susceptibility_to_2,,,,,,,, 12097,epilepsy_x_linked_with_variable_learning_disabilities_and_behavior_disorders,,,,,,,, 12098,epileptic_encephalopathy_early_infantile_1,,,,,,,G40.4,28055006 12099,epileptic_encephalopathy_early_infantile_11,,,,,,,, 12100,epileptic_encephalopathy_early_infantile_12,,,,,,,, 12101,epileptic_encephalopathy_early_infantile_13,,,,,,,, 12102,epileptic_encephalopathy_early_infantile_2,,,,,,,, 12103,epileptic_encephalopathy_early_infantile_3,,,,,,,G40.3,44423001 12104,epileptic_encephalopathy_early_infantile_4,,,,,,,G40.3, 12105,epileptic_encephalopathy_early_infantile_5,,,,,,,, 12106,episodic_ataxia_type_5,,,,,,,G11.8, 12107,episodic_ataxia_type_6,,,,,,,G11.8, 12108,epm2a_related_lafora_disease,,,,,,,, 12109,epsilon_trimethyllysine_hydroxylase_deficiency,,,,,,,, 12110,ercc1_related_xeroderma_pigmentosum,,,,,,,, 12111,ercc2_related_xeroderma_pigmentosum,,,,,,,, 12112,ercc3_related_xeroderma_pigmentosum,,,,,,,, 12113,ercc4_related_xeroderma_pigmentosum,,,,,,,, 12114,ercc5_related_xeroderma_pigmentosum,,,,,,,, 12115,ercc6_related_cockayne_syndrome,,,,,,,, 12116,ercc8_related_cockayne_syndrome,,,,,,,, 12117,erythrocyte_amp_deaminase_deficiency,,,,,,,, 12118,evc2_related_ellis_van_creveld_syndrome,,,,,,,, 12119,evc_related_ellis_van_creveld_syndrome,,,,,,,, 12120,exocrine_pancreatic_insufficiency_dyserythropoietic_anemia_and_calvarial_hyperostosis,,,,,,,, 12121,eya1_related_branchiootorenal_spectrum_disorders,,,,,,,, 12122,eya4_related_dilated_cardiomyopathy,,,,,H90.3|H90.4,,, 12123,eys_related_retinitis_pigmentosa,,,,,,,, 12124,f5_related_budd_chiari_syndrome,,,,,,,, 12125,facio_auriculo_vertebral_syndrome,,,,,,,, 12126,factor_v_and_factor_viii_combined_deficiency_of,,,,,,,, 12127,factor_v_cambridge_thrombophilia,,,,,,,, 12128,factor_v_r2_mutation_thrombophilia,,,,,,,, 12129,factor_vii_marburg_i_variant_thrombophilia,,,,,,,, 12130,factor_xiii_subunit_a_deficiency,,,,,,,, 12131,factor_xiii_subunit_b_deficiency,,,,,,,, 12132,failure_to_thrive_and_dyslipidemia_caused_by_citrin_deficiency,,,,,,,, 12133,fam161a_related_retinitis_pigmentosa,,,,,,,, 12134,familial_acute_lymphocytic_leukemia,,,,,,,, 12135,familial_acute_myelocytic_leukemia,,,,,,,, 12136,familial_amyloid_cardiomyopathy,familial_amyloid_cardiomyopathy,,,,,,, 12137,familial_amyloid_polyneuropathy_type_1portuguese_swedish_japanese_type,,,,,,,, 12138,familial_amyloid_polyneuropathy_type_ii_indiana_swiss_or_maryland_german_type,,,,,,,, 12139,familial_atypical_mycobacteriosis_ifngr1_related,,,,,,,, 12140,familial_atypical_mycobacteriosis_ifngr2_related,,,,,,,, 12141,familial_atypical_mycobacteriosis_il12b_related,,,,,,,, 12142,familial_atypical_mycobacteriosis_il12rb1_related,,,,,,,, 12143,familial_atypical_mycobacteriosis_stat1_related,,,,,,,, 12144,familial_atypical_mycobacteriosis_tyk2_related,,,,,,,, 12145,familial_atypical_mycobacteriosis_x_linked_1,,,,,,,, 12146,familial_candidiasis_2,,,,,,,, 12147,familial_candidiasis_5,,,,,,,, 12148,familial_candidiasis_6,,,,,,,, 12149,familial_cerebral_cavernous_malformation_1,,,,,,,, 12150,familial_cerebral_cavernous_malformation_2,,,,,,,, 12151,familial_cerebral_cavernous_malformation_3,,,,,,,, 12152,familial_cerebral_cavernous_malformation_4,,,,,,,, 12153,familial_chloride_diarrhea,,,,,,,, 12154,familial_chronic_lymphocytic_leukemia,,,,,,,, 12155,familial_chronic_myelocytic_leukemia,,,,,,,, 12156,familial_cold_autoinflammatory_syndrome_1,,,,,,,, 12157,familial_cold_autoinflammatory_syndrome_2,,,,,,,, 12158,familial_creutzfeldt_jakob_disease,,,,,,,, 12159,familial_erythrocytosis_2_2,,,,,,,, 12160,familial_erythrocytosis_3,,,,,,,D75.1, 12161,familial_erythrocytosis_4,,,,,,,, 12162,familial_febrile_seizures_3b,,,,,,,, 12163,familial_hemophagocytic_lymphohistiocytosis_5,,,,,,,, 12164,familial_hodgkin_disease,,,,,,,, 12165,familial_horizontal_gaze_palsy_with_progressive_scoliosis,,,,,,,, 12166,familial_hypercholesterolemia_type_b,,,,,,,, 12167,familial_hypercholesterolemia_autosomal_dominant_3,,,,,,,, 12168,familial_hypercholesterolemia_autosomal_recessive,,,,,,,, 12169,familial_hyperinsulinism_multi_gene_panels,,,,,,,, 12170,familial_hypertrophic_cardiomyopathy_with_wolff_parkinson_white_syndrome_prkag2_related,,,,,,,, 12171,familial_idiopathic_basal_ganglia_calcification_1,,,,,,,, 12172,familial_idiopathic_basal_ganglia_calcification_2,,,,,,,, 12173,familial_idiopathic_basal_ganglia_calcification_3,,,,,,,, 12174,familial_infantile_myoclonic_epilepsy,,,,,,,G40.3,192990004 12175,familial_isolated_noncompaction_of_left_ventricular_myocardium,,,,,,,, 12176,familial_mediterranean_fever_type_1,,,,,,,, 12177,familial_mediterranean_fever_type_2,,,,,,,, 12178,familial_myelodysplasia,,,,,,,, 12179,familial_myeloma,,,,,,,, 12180,familial_non_hodgkin_lymphoma,,,,,,,, 12181,familial_oculoleptomeningeal_amyloidosis,,,,,,,, 12182,familial_papillary_thyroid_carcinoma,,,,,,,, 12183,familial_partial_lipodystrophy_type_3,,,,,,,, 12184,familial_partial_lipodystrophy_kobberling_type,,,,,,,E88.1, 12185,familial_platelet_disorder_with_propensity_to_acute_myelogenous_leukemia,,,,,,,, 12186,familial_schizencephaly_emx2_related,,,,,,,, 12187,familial_schizencephaly_six3_related,,,,,,,, 12188,familial_spinal_neurofibromatosis,,,,,,,Q85.0, 12189,familial_thrombotic_thrombocytopenia_purpura,,,,,,,, 12190,familial_wilms_tumor,,,,,,,, 12191,fanca_related_fanconi_anemia,,,,,,,, 12192,fancb_related_fanconi_anemia,,,,,,,, 12193,fancc_related_fanconi_anemia,,,,,,,, 12194,fancd2_related_fanconi_anemia,,,,,,,, 12195,fance_related_fanconi_anemia,,,,,,,, 12196,fancf_related_fanconi_anemia,,,,,,,, 12197,fancg_related_fanconi_anemia,,,,,,,, 12198,fanci_related_fanconi_anemia,,,,,,,, 12199,fancl_related_fanconi_anemia,,,,,,,, 12200,fancm_related_fanconi_anemia,,,,,,,, 12201,faslg_related_autoimmune_lymphoproliferative_syndrome,,,,,,,, 12202,fas_related_autoimmune_lymphoproliferative_syndrome,,,,,,,, 12203,fatal_infantile_lactic_acidosis,,,,,,,, 12204,fatty_acid_oxidation_disorders,,,,,,,, 12205,fatty_acid_oxidation_disorders_multi_gene_panels,,,,,,D024741,E71.3|I43.1,237999008 12206,fbn1_related_thoracic_aortic_aneurysms_and_aortic_dissections,,,,,,,, 12207,fbn1_related_weill_marchesani_syndrome,,,,,,,, 12208,fbxo7_related_parkinson_disease,,,,,,,, 12209,feingold_syndrome_2,,,,,,,, 12210,fg_syndrome_type_1,,,,,,,, 12211,fga_related_congenital_afibrinogenemia,,,,,,,, 12212,fga_related_familial_visceral_amyloidosis,,,,,,,, 12213,fgb_related_congenital_afibrinogenemia,,,,,,,, 12214,fgd1_related_x_linked_mental_retardation,,,,,,,, 12215,fgf10_related_lacrimo_auriculo_dento_digital_syndrome,,,,,,,, 12216,fgfr1_related_craniosynostosis,,,,,,,, 12217,fgfr2_related_craniosynostosis,,,,,,,, 12218,fgfr2_related_isolated_coronal_synostosis,,,,,,,, 12219,fgfr2_related_lacrimo_auriculo_dento_digital_syndrome,,,,,,,, 12220,fgfr3_related_craniosynostosis,,,,,,,, 12221,fgfr3_related_isolated_coronal_synostosis,,,,,,,, 12222,fgfr3_related_lacrimo_auriculo_dento_digital_syndrome,,,,,,,, 12223,fgg_related_congenital_afibrinogenemia,,,,,,,, 12224,fhl1_related_emery_dreifuss_muscular_dystrophy_x_linked,,,,,,,, 12225,fhl1_related_myofibrillar_myopathy,,,,,,,, 12226,fibrochondrogenesis_1,,,,,,,, 12227,fibrochondrogenesis_2,,,,,,,, 12228,fibular_hypoplasia,,,,,,,, 12229,fig4_related_amyotrophic_lateral_sclerosis,,,,,,,, 12230,fkbp10_related_osteogenesis_imperfecta,,,,,,,, 12231,fkrp_related_muscle_diseases,,,,,,,, 12232,fktn_related_dilated_cardiomyopathy,,,,,,,, 12233,fktn_related_muscle_diseases,,,,,,,, 12234,flna_related_disorders,,,,,,,, 12235,flna_related_x_linked_cardiac_valvular_dysplasia,,,,,,,, 12236,fmr1_related_primary_ovarian_insufficiency,,,,,,,, 12237,focal_segmental_glomerulosclerosis_2,,,,,,,N04|N04.1, 12238,focal_segmental_glomerulosclerosis_3,,,,,,,, 12239,focal_segmental_glomerulosclerosis_5,,,,,,,, 12240,foxe3_related_anterior_segment_mesenchymal_dysgenesis,,,,,,,, 12241,foxe3_related_cataracts_autosomal_dominant,,,,,,,, 12242,foxh1_related_holoprosencephaly,,,,,,,, 12243,foxi1_related_pendred_syndrome,,,,,,,, 12244,fragile_x_associated_tremor_ataxia_syndrome,,,,,,,G11.2, 12245,fras1_related_fraser_syndrome,,,,,,,, 12246,frem2_related_fraser_syndrome,,,,,,,, 12247,frontonasal_dysplasia_1,,,,,,,, 12248,frontotemporal_dementia_with_parkinsonism_17,,,,,,,, 12249,fructosuria_essential,essential_fructosuria,,,,,C538068,E74.1,24338009 12250,fscn2_related_retinitis_pigmentosa,,,,,,,, 12251,fus_related_amyotrophic_lateral_sclerosis,,,,,,,, 12252,fzd4_related_familial_exudative_vitreoretinopathy_autosomal_dominant,,,,,,,, 12253,gabra1_related_juvenile_myoclonic_epilepsy,,,,,,,, 12254,gabrd_related_generalized_epilepsy_with_febrile_seizures_plus,,,,,,,, 12255,gabrd_related_juvenile_myoclonic_epilepsy,,,,,,,, 12256,gabrg2_related_dravet_syndrome,,,,,,,, 12257,gabrg2_related_generalized_epilepsy_with_febrile_seizures_plus,,,,,,,, 12258,gallbladder_disease_1,,,,,K80,,, 12259,gata1_related_anemia,,,,,,,, 12260,gata1_related_anemia_with_thrombocytopenia,,,,,,,, 12261,gata1_related_cytopenia,,,,,,,, 12262,gata1_related_neutropenia,,,,,,,, 12263,gata1_related_thrombocytopenia,,,,,,,, 12264,gata1_related_thrombocytopenia_with_beta_thalassemia,,,,,,,, 12265,gaucher_disease_atypical_due_to_saposin_c_deficiency,,,,,,,, 12266,gaucher_disease_cardiovascular_form,,,,,,,, 12267,gbe1_related_disorders,,,,,,,, 12268,gck_related_hyperinsulinism,,,,,,,, 12269,gck_related_permanent_neonatal_diabetes_mellitus,,,,,,,, 12270,gcm2_related_familial_isolated_hypoparathyroidism,,,,,,,, 12271,gcsh_related_glycine_encephalopathy,,,,,,,, 12272,gdap1_related_intermediate_charcot_marie_tooth_neuropathy,,,,,,,G60.0, 12273,gdnf_related_hirschsprung_disease,,,,,,,, 12274,geleophysic_dysplasia_1,,,,,,,, 12275,geleophysic_dysplasia_2,,,,,,,, 12276,generalized_epilepsy_and_paroxysmal_dyskinesia,,,,,,,, 12277,generalized_pustular_psoriasis,generalized_pustular_psoriasis,,,,L40.1,,L40.1,238612002 12278,gfpt1_related_congenital_myasthenic_syndrome,,,,,,,, 12279,gjb2_related_dfna_3_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 12280,gjb2_related_dfnb_1_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 12281,gjb3_related_erythrokeratodermia_variabilis,,,,,,,, 12282,gjb4_related_erythrokeratodermia_variabilis,,,,,,,, 12283,gjb6_related_dfna_3_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 12284,gjb6_related_dfnb_1_nonsyndromic_hearing_loss_and_deafness,,,,,,,, 12285,gjc2_related_disorders,,,,,,,, 12286,gldc_related_glycine_encephalopathy,,,,,,,, 12287,gli2_related_holoprosencephaly,,,,,,,, 12288,gli3_related_disorders,,,,,,,, 12289,global_cerebral_hypomyelination,,,,,,,, 12290,glomuvenous_malformation,,,,,,C536827,Q27.8,403969002 12291,glra1_related_hyperekplexia,,,,,,,, 12292,glrb_related_hyperekplexia,,,,,,,, 12293,glucocorticoid_deficiency_1,,,,,,,, 12294,glucocorticoid_deficiency_2,,,,,,,, 12295,glud1_related_hyperinsulinism,,,,,,,, 12296,glycogen_storage_disease_multi_gene_panels,,,,,,,, 12297,glycoprotein_1a_deficiency,,,,,,,, 12298,gm2_activator_deficiency,,,,,,,E75.0, 12299,gnptab_related_mucolipidoses,,,,,,,, 12300,gnrh1_related_isolated_gonadotropin_releasing_hormone_gnrh_deficiency,,,,,,,, 12301,gnrhr_related_isolated_gonadotropin_releasing_hormone_gnrh_deficiency,,,,,,,, 12302,gout_hprt1_related,,,,,,,, 12303,gpc3_related_simpson_golabi_behmel_syndrome_type_1,,,,,,,, 12304,gpc4_related_simpson_golabi_behmel_syndrome_type_1,,,,,,,, 12305,gphn_related_hyperekplexia,,,,,,,, 12306,grip1_related_fraser_syndrome,,,,,,,, 12307,growth_retardation_developmental_delay_coarse_facies_and_early_death,,,,,,,Q87.8, 12308,gtdc2_related_muscle_diseases,,,,,,,, 12309,gtp_cyclohydrolase_1_related_disorders,,,,,,,, 12310,guadalajara_camptodactyly_syndrome,,,,,,,, 12311,guca1b_related_retinitis_pigmentosa,,,,,,,, 12312,gucy2d_related_leber_congenital_amaurosis,,,,,,,, 12313,hadh_related_hyperinsulinism,,,,,,,, 12314,hamamy_syndrome,,,,,,,, 12315,hamp_related_juvenile_hemochromatosis,,,,,,,, 12316,harp_syndrome,,,,,,,, 12317,hdac8_related_cornelia_de_lange_syndrome,,,,,,,, 12318,hearing_loss_deafness_multi_gene_panels,,,,,,,, 12319,hemangioma_hereditary,,,,,,,, 12320,hemoglobin_constant_spring,,,,,,,, 12321,hemoglobin_pakse,,,,,,,, 12322,hemoglobin_quong_sze,,,,,,,, 12323,hemoglobin_s_beta_thalassemia,,,,,,,, 12324,hemoglobin_sd,,,,,,,, 12325,hemoglobin_so,,,,,,,, 12326,hemoglobin_ss,,,,,,,, 12327,hemolytic_anemia_due_to_band_3_montefiore,,,,,,,, 12328,hepacam_related_megalencephalic_leukoencephalopathy_with_subcortical_cysts,,,,,,,, 12329,hepatic_failure_early_onset_and_neurologic_disorder_due_to_cytochrome_c_oxidase_deficiency,,,,,,,, 12330,hepatic_lipase_deficiency,hepatic_lipase,,,,,,, 12331,hereditary_angioedema_type_iii,,,,,,D056828,D84.1,427167008 12332,hereditary_benign_intraepithelial_dyskeratosis,,,,,,,, 12333,hereditary_congenital_ptosis,,,,,,,, 12334,hereditary_hypophosphatemic_rickets_with_hypercalciuria,,,,,,,, 12335,hereditary_lymphedema_ic,,,,,,,, 12336,hereditary_mixed_polyposis_syndrome_1,,,,,,,, 12337,hereditary_mixed_polyposis_syndrome_2,,,,,,,D12.6, 12338,hereditary_motor_and_sensory_neuropathy_vi,,,,,G60.0,,G60.0, 12339,hereditary_multiple_osteochondromatosis_type_i,,,,,,,, 12340,hereditary_multiple_osteochondromatosis_type_ii,,,,,,,, 12341,hereditary_myopathy_with_early_respiratory_failure,,,,,,,G71.0, 12342,hereditary_nephrotic_syndromes,,,,,,,, 12343,hereditary_nephrotic_syndromes_autosomal_dominant,,,,,,,, 12344,hereditary_nephrotic_syndromes_autosomal_recessive,,,,,,,, 12345,hereditary_paraganglioma_pheochromocytoma_multi_gene_panels,,,,,,,, 12346,hereditary_persistence_of_fetal_hemoglobin,hereditary_persistence_of_fetal_hemoglobin,,,,D56.4,,, 12347,hereditary_sensory_and_autonomic_neuropathy_type_ic,,,,,,,, 12348,hereditary_sensory_and_autonomic_neuropathy_type_iia,,,,,,,, 12349,hereditary_sensory_and_autonomic_neuropathy_type_iib,,,,,,,, 12350,hereditary_sensory_and_autonomic_neuropathy_type_iic,,,,,,,, 12351,hereditary_sensory_and_autonomic_neuropathy_type_v,,,,,,D000699,G60.8,128206006|403605007 12352,hereditary_sensory_and_autonomic_neuropathy_type_vi,,,,,G90.1,,G60.8, 12353,hermansky_pudlak_syndrome_1,,,,,,,, 12354,hermansky_pudlak_syndrome_3,,,,,,,, 12355,hermansky_pudlak_syndrome_4,,,,,,,, 12356,hermansky_pudlak_syndrome_5,,,,,,,, 12357,hermansky_pudlak_syndrome_6,,,,,,,, 12358,hermansky_pudlak_syndrome_7,,,,,,,E70.3, 12359,hermansky_pudlak_syndrome_8,,,,,,,E70.3,9311003 12360,hermansky_pudlak_syndrome_9,,,,,,,E70.3, 12361,hes7_related_spondylocostal_dysostosis_autosomal_recessive,,,,,,,, 12362,hesx1_related_combined_pituitary_hormone_deficiency,,,,,,,, 12363,heterotaxy_multi_gene_panels,,,,,,,, 12364,hjv_hfe2_related_juvenile_hemochromatosis,,,,,,,, 12365,hnf4a_related_hyperinsulinism,,,,,,,, 12366,holoprosencephaly_multi_gene_panels,,,,,,,, 12367,hoxa1_related_disorders,,,,,,,, 12368,hoxd13_related_brachydactyly,,,,,,,, 12369,hpe6_related_holoprosencephaly,,,,,,,, 12370,hpe8_related_holoprosencephaly,,,,,,,, 12371,htra2_related_parkinson_disease,,,,,,,, 12372,huntington_disease_like_1,,,,,,,, 12373,hydatidiform_mole_recurrent,,,,,,,, 12374,hydrolethalus_syndrome_1,,,,,,,, 12375,hyperaldosteronism_familial_type_iii,,,,,,,E26.0, 12376,hyperammonemia_multi_gene_panels,,,,,,,, 12377,hypercalcemia_infantile,,,,,,,, 12378,hyperekplexia_multi_gene_panels,,,,,,,, 12379,hyperkalemic_periodic_paralysis_type_2,,,,,,,, 12380,hyperleucine_isoleucinemia,,,,,,,, 12381,hypermethioninemia_due_to_adenosine_kinase_deficiency,,,,,,,, 12382,hyperoxaluria_primary_multi_gene_panels,,,,,,,, 12383,hyperphosphatasia_with_mental_retardation_syndrome,hyperphosphatasia_with_mental_retardation_syndrome,,,,,,, 12384,hyperphosphatasia_with_mental_retardation_syndrome_1,,,,,,,, 12385,hyperphosphatasia_with_mental_retardation_syndrome_2,,,,,,,, 12386,hyperphosphatemic_familial_tumoral_calcinosis_fgf23_related,,,,,,,, 12387,hyperphosphatemic_familial_tumoral_calcinosis_galnt3_related,,,,,,,, 12388,hyperphosphatemic_familial_tumoral_calcinosis_kl_related,,,,,,,, 12389,hyperpigmentation_cutaneous_with_hypertrichosis_hepatosplenomegaly_heart_anomalies_hearing_loss_and_hypogonadism,,,,,,,, 12390,hypertrichosis_universalis_congenita,,,,,,,, 12391,hypertrophic_cardiomyopathy_midventricular_digenic,,,,,,,, 12392,hyperuricemia_pulmonary_hypertension_renal_failure_and_alkalosis,,,,,,,, 12393,hypochromic_microcytic_anemia_with_iron_overload,,,,,,,, 12394,hypogonadotropic_hypogonadism_13_with_or_without_anosmia,,,,,,,, 12395,hypogonadotropic_hypogonadism_9_with_or_without_anosmia,,,,,,,, 12396,hypohidrotic_ectodermal_dysplasia_autosomal,,,,,,,, 12397,hypokalemic_periodic_paralysis_type_1,,,,,,D020514,G72.3,240093008|82732003 12398,hypokalemic_periodic_paralysis_type_2,,,,,,,, 12399,hypomagnesemia_6_renal,,,,,,,, 12400,hypomagnesemia_with_secondary_hypocalcemia,hypomagnesemia_with_secondary_hypocalcemia,,,,,,E83.4, 12401,hypomagnesemia_renal_with_ocular_involvement,,,,,,,, 12402,hypoparathyroidism_sensorineural_deafness_and_renal_disease,,,,,,,, 12403,hypophosphatemic_nephrolithiasis_osteoporosis_1,,,,,,,, 12404,hypophosphatemic_rickets_multi_gene_panels,,,,,,,, 12405,hypophosphatemic_rickets_autosomal_dominant,autosomal_dominant_hypophosphatemic_rickets,,,,,,E83.3, 12406,hypophosphatemic_rickets_autosomal_recessive_1,,,,,,,, 12407,hypophosphatemic_rickets_autosomal_recessive_2,,,,,,,, 12408,hypospadias_2_x_linked,,,,,,,, 12409,hypotrichosis_lymphedema_telangiectasia_syndrome,hypotrichosis-lymphedema-telangiectasia_syndrome,,,,,,, 12410,ichthyosis_hystrix_like_with_deafness,,,,,,,, 12411,icos_related_common_variable_immune_deficiency,,,,,D83|D83.0|D83.1|D83.2,,D83.1, 12412,idh3b_related_retinitis_pigmentosa,,,,,,,, 12413,ifitm5_related_osteogenesis_imperfecta,,,,,,,, 12414,image_syndrome,,,,,,,, 12415,immunodeficiency_due_to_defect_in_cd3_gamma,,,,,,,, 12416,impdh1_related_leber_congenital_amaurosis,,,,,,,, 12417,impdh1_related_retinitis_pigmentosa,,,,,,,, 12418,impg2_related_retinitis_pigmentosa,,,,,,,, 12419,infantile_malignant_clcn7_related_autosomal_recessive_osteopetrosis,,,,,,,, 12420,infantile_myopathy_and_lactic_acidosis_fatal_and_non_fatal_forms,,,,,,,, 12421,inflammatory_bowel_disease_25_autosomal_recessive,,,,,,,, 12422,inflammatory_bowel_disease_28_autosomal_recessive,,,,,,,, 12423,inpp5e_related_joubert_syndrome,,,,,,,, 12424,ins_related_permanent_neonatal_diabetes_mellitus,,,,,,,, 12425,intellectual_disability_multi_gene_panels,,,,,,,, 12426,interleukin_2_receptor_alpha_chain_deficiency,,,,,,,D81.2, 12427,intermediate_autosomal_osteopetrosis,,,,,,,, 12428,intermediate_charcot_marie_tooth_neuropathy,,,,,,,, 12429,intermediate_cystinosis,,,,,,,, 12430,iridogoniodysgenesis_type_1,,,,,,,, 12431,iris_hypoplasia,,,,,,,, 12432,iron_overload_autosomal_dominant,,,,,,,, 12433,isolated_17_linked_lissencephaly,,,,,,,, 12434,isolated_aniridia,,,,,,,, 12435,isolated_congenital_digital_clubbing,,,,,,,Q68.1, 12436,isolated_microphthalmia,,,,,,,, 12437,isolated_microphthalmia_5,,,,,,,Q15.8, 12438,isolated_nonsyndromic_congenital_heart_disease_defects,,,,,,,, 12439,isolated_persistent_hypermethioninemia,,,,,,,, 12440,isolated_x_linked_adrenal_hypoplasia_congenita,,,,,,,I47.2, 12441,ispd_related_muscle_diseases,,,,,,,, 12442,itga6_related_epidermolysis_bullosa_with_pyloric_atresia,,,,,,,, 12443,itgb4_related_epidermolysis_bullosa_with_pyloric_atresia,,,,,,,, 12444,jag1_related_alagille_syndrome,,,,,,,, 12445,jak2_related_budd_chiari_syndrome,,,,,,,, 12446,jawad_syndrome,,,,,,,, 12447,joubert_syndrome_and_related_disorders_multi_gene_panels,,,,,,,, 12448,juvenile_subacute_hexosaminidase_a_deficiency,,,,,,,, 12449,juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome,,,,,,,, 12450,kallmann_syndrome_multi_gene_panels,,,,,,,, 12451,kars_related_intermediate_charcot_marie_tooth_neuropathy,,,,,,,G60.0, 12452,kbtbd13_related_nemaline_myopathy,,,,,,,, 12453,kcna5_related_familial_atrial_fibrillation,,,,,,,, 12454,kcne2_related_familial_atrial_fibrillation,,,,,,,, 12455,kcnj10_related_pendred_syndrome,,,,,,,, 12456,kcnj11_related_hyperinsulinism,,,,,,,, 12457,kcnj11_related_permanent_neonatal_diabetes_mellitus,,,,,,,, 12458,kcnj11_related_susceptibility_to_noninsulin_dependent_diabetes_mellitus,,,,,,,, 12459,kcnj13_related_leber_congenital_amaurosis,,,,,,,, 12460,kcnj2_related_familial_atrial_fibrillation,,,,,,,, 12461,kcnq1_related_familial_atrial_fibrillation,,,,,,,I48, 12462,keloids,keloid,,,,,,, 12463,keratoconus_1,,,,,,,, 12464,keratoderma,keratoderma,,,,,,, 12465,ketothiolase_deficiency,,,,,,,, 12466,kiaa2022_related_x_linked_mental_retardation,,,,,,,, 12467,kif1b_related_neuroblastoma_susceptibility,,,,,,,, 12468,kif1b_related_pheochromocytoma,,,,,,,, 12469,kif21a_related_congenital_fibrosis_of_the_extraocular_muscles,,,,,,,Q87.8, 12470,kif7_related_joubert_syndrome,,,,,,,, 12471,kiss1r_related_isolated_gonadotropin_releasing_hormone_gnrh_deficiency,,,,,,,, 12472,klhl7_related_retinitis_pigmentosa,,,,,,,, 12473,knobloch_syndrome_type_i,,,,,,C537209,Q15.8, 12474,kras_related_cardiofaciocutaneous_syndrome,,,,,,,, 12475,kras_related_noonan_syndrome,,,,,,,, 12476,krt10_related_epidermolytic_hyperkeratosis,,,,,,,, 12477,krt16_related_pachyonychia_congenita,,,,,,,, 12478,krt17_related_pachyonychia_congenita,,,,,,,, 12479,krt1_related_epidermolytic_hyperkeratosis,,,,,,,, 12480,krt6a_related_pachyonychia_congenita,,,,,,,, 12481,krt6b_related_pachyonychia_congenita,,,,,,,, 12482,lactose_intolerance_adult_type,,,,,,,, 12483,lama3_related_junctional_epidermolysis_bullosa,,,,,,,, 12484,lamb3_related_junctional_epidermolysis_bullosa,,,,,,,, 12485,lamc2_related_junctional_epidermolysis_bullosa,,,,,,,, 12486,langer_mesomelic_dwarfism,,,,,,,, 12487,large_related_muscle_diseases,,,,,,,, 12488,larsen_syndrome_autosomal_recessive,,,,,,,, 12489,late_onset_retinal_degeneration,,,,,,,, 12490,lateral_facial_dysplasia,lateral_facial_dysplasia,,,,,,, 12491,lca5_related_leber_congenital_amaurosis,,,,,,,, 12492,ldb3_related_dilated_cardiomyopathy,,,,,,,, 12493,leber_congenital_amaurosis_multi_gene_panels,,,,,,,, 12494,left_ventricular_noncompaction_4,,,,,,,, 12495,left_ventricular_noncompaction_5,,,,,,,, 12496,left_ventricular_noncompaction_6,,,,,,,, 12497,left_ventricular_outflow_tract_obstruction_lvoto,,,,,I39.1,,, 12498,lefty2_related_visceral_heterotaxy,,,,,,,, 12499,leigh_like_syndrome,,,,,,,, 12500,lepre1_related_osteogenesis_imperfecta,,,,,,,, 12501,leptin_deficiency,leptin,,,,,,, 12502,leptin_receptor_deficiency,leptin_receptor,,,,,,, 12503,leptomeningeal_amyloidosis,leptomeningeal_amyloidosis,,,,,,, 12504,lethal_arthrogryposis_with_anterior_horn_cell_disease,lethal_arthrogryposis_with_anterior_horn_cell_disease,,,,,,, 12505,lethal_encephalopathy_due_to_defective_mitochondrial_peroxisomal_fission,,,,,,,, 12506,lethal_restrictive_dermopathy_lmna_related,,,,,,,, 12507,lethal_restrictive_dermopathy_zmpste24_related,,,,,,,, 12508,leukodystrophy_adult_onset_autosomal_dominant,,,,,,,E75.2, 12509,leukoencephalopathy_with_dystonia_and_motor_neuropathy,,,,,,,E75.2, 12510,leukoencephalopathy_cystic_without_megalencephaly,,,,,,,E75.2, 12511,leydig_cell_hypoplasia_agenesis,,,,,,,, 12512,lfng_related_spondylocostal_dysostosis_autosomal_recessive,,,,,,,, 12513,lhx3_related_combined_pituitary_hormone_deficiency,,,,,,,, 12514,lhx4_related_combined_pituitary_hormone_deficiency,,,,,,,, 12515,liddle_syndrome_scnn1b_related,,,,,,,, 12516,liddle_syndrome_scnn1g_related,,,,,,,, 12517,li_fraumeni_syndrome_chek2_related,,,,,,,, 12518,limb_girdle_muscular_dystrophies_autosomal_dominant,,,,,,,, 12519,limb_girdle_muscular_dystrophy_multi_gene_panels,,,,,,,, 12520,limb_girdle_muscular_dystrophy_type_1c,,,,,,,G71.0, 12521,limb_girdle_muscular_dystrophy_type_1d,,,,,,,, 12522,limb_girdle_muscular_dystrophy_type_1e,,,,,,,, 12523,limb_girdle_muscular_dystrophy_type_1f,,,,,,,, 12524,limb_girdle_muscular_dystrophy_type_1g,,,,,,,, 12525,limb_girdle_muscular_dystrophy_type_1h,,,,,,,, 12526,limb_girdle_muscular_dystrophy_type_2i,,,,,,,, 12527,limb_girdle_muscular_dystrophy_type_2j,,,,,,,G71.0, 12528,limb_girdle_muscular_dystrophy_type_2k,,,,,,,G71.0, 12529,limb_girdle_muscular_dystrophy_type_2l,,,,,,,G71.0, 12530,limb_girdle_muscular_dystrophy_type_2m,,,,,,,G71.0, 12531,limb_girdle_muscular_dystrophy_type_2n,,,,,,,G71.0, 12532,limb_girdle_muscular_dystrophy_type_2o,,,,,,,G71.0, 12533,limb_girdle_muscular_dystrophy_type_2q,,,,,,,G71.0, 12534,lissencephaly_3,,,,,,,Q04.3, 12535,lissencephaly_4,,,,,,,, 12536,lissencephaly_multi_gene_panels,,,,,,,, 12537,lmna_related_emery_dreifuss_muscular_dystrophy_autosomal,,,,,,,, 12538,lmna_related_muscle_diseases,,,,,,,, 12539,localized_autosomal_recessive_hypotrichosis,,,,,,,, 12540,long_qt_syndrome_12,,,,,,,, 12541,long_qt_syndrome_13,,,,,,,, 12542,long_qt_syndrome_multi_gene_panels,,,,,,,, 12543,lrat_related_leber_congenital_amaurosis,,,,,,,, 12544,lrat_related_retinitis_pigmentosa,,,,,,,, 12545,lrp5_related_autosomal_dominant_osteopetrosis,,,,,,,, 12546,lrp5_related_familial_exudative_vitreoretinopathy_autosomal_dominant,,,,,,,, 12547,lrp5_related_familial_exudative_vitreoretinopathy_autosomal_recessive,,,,,,,, 12548,ltbp2_related_primary_congenital_glaucoma,,,,,,,, 12549,ltbp2_related_weill_marchesani_syndrome,,,,,,,, 12550,lujan_syndrome,lujan_syndrome,,,,,,, 12551,lung_cancer_egfr_related,,,,,,,, 12552,lung_cancer_gstm1_related,,,,,,,, 12553,lymphedema_primary_with_myelodysplasia,,,,,,,, 12554,lymphoproliferative_syndrome_ebv_associated_autosomal_1,,,,,,,, 12555,lysosomal_acid_lipase_deficiency,lysosomal_acid_lipase_deficiency,,,,,,E75.5, 12556,lyz_related_familial_visceral_amyloidosis,,,,,,,, 12557,macrocephaly_alopecia_cutis_laxa_and_scoliosis,,,,,,,Q82.8, 12558,macrocephaly_autism_syndrome,,,,,,,, 12559,macular_dystrophy_retinal_2,,,,,,,H35.5, 12560,mak_related_retinitis_pigmentosa,,,,,,,, 12561,maoa_related_behavior_disorders,,,,,,,, 12562,map2k1_related_cardiofaciocutaneous_syndrome,,,,,,,, 12563,map2k1_related_noonan_syndrome,,,,,,,, 12564,map2k2_related_cardiofaciocutaneous_syndrome,,,,,,,, 12565,maple_syrup_urine_disease_type_3,,,,,,,, 12566,marfan_syndrome_loeys_dietz_syndrome_familial_thoracic_aortic_aneurysms_and_dissections_multi_gene_panels,,,,,,,, 12567,masp2_deficiency,,,,,,,, 12568,mast_syndrome,,,,,,,G11.4, 12569,maternal_uniparental_disomy_chromosome_14,,,,,,,Q99.8, 12570,maturity_onset_diabetes_of_the_young_multi_gene_panels,,,,,,,, 12571,maturity_onset_diabetes_of_the_young_type10,,,,,,,, 12572,max_related_hereditary_paraganglioma_pheochromocytoma_syndrome,,,,,,,, 12573,max_related_susceptibility_to_pheochromocytoma,,,,,,,, 12574,mccc1_related_3_methylcrotonyl_coa_carboxylase_deficiency,,,,,,,, 12575,mccc2_related_3_methylcrotonyl_coa_carboxylase_deficiency,,,,,,,, 12576,mcee_related_methylmalonic_acidemia,,,,,,,E71.1, 12577,mct8_specific_thyroid_hormone_cell_transporter_deficiency,,,,,,,, 12578,meacham_syndrome,,,,,,,, 12579,mecp2_related_angelman_like_syndrome,,,,,,,, 12580,mecp2_related_severe_neonatal_encephalopathy,,,,,,,, 12581,medium_chain_3_ketothiolase_deficiency,,,,,,,, 12582,medulloblastoma_sufu_related,,,,,,,, 12583,megalencephalic_leukoencephalopathy_with_subcortical_cysts_1,,,,,,,, 12584,megalencephalic_leukoencephalopathy_with_subcortical_cysts_2a,,,,,,,, 12585,megalencephalic_leukoencephalopathy_with_subcortical_cysts_2b_remitting_with_or_without_mental_retardation,,,,,,,, 12586,megaloblastic_anemia_1,,,,,,,, 12587,meier_gorlin_syndrome_1,,,,,,,, 12588,meier_gorlin_syndrome_2,,,,,,,, 12589,meier_gorlin_syndrome_3,,,,,,,, 12590,meier_gorlin_syndrome_4,,,,,,,, 12591,meier_gorlin_syndrome_5,,,,,,,, 12592,melas_mt_nd1_related,,,,,,,, 12593,melas_mt_nd5_related,,,,,,,, 12594,melas_mt_nd6_related,,,,,,,, 12595,melas_mt_tf_related,,,,,,,, 12596,melas_mt_tk_related,,,,,,,, 12597,melas_mt_tl1_related,,,,,,,, 12598,melas_mt_tq_related,,,,,,,, 12599,melas_mt_ts1_related,,,,,,,, 12600,melas_mt_ts2_related,,,,,,,, 12601,mental_retardation,mental_retardation,,,,,,, 12602,mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia,mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia,,,,,,Q04.3, 12603,mental_retardation_syndromes_idiopathic,,,,,,,, 12604,mental_retardation_with_language_impairment_and_autistic_features,,,,,,,, 12605,mental_retardation_autosomal_dominant_13,,,,,,,, 12606,mental_retardation_autosomal_dominant_6,,,,,,,, 12607,mental_retardation_autosomal_recessive_5_2,,,,,,,, 12608,mental_retardation_stereotypic_movements_epilepsy_and_or_cerebral_malformations,,,,,,,Q93.5, 12609,mental_retardation_x_linked_syndromic_martin_probst_type,,,,,,,, 12610,mental_retardation_x_linked_syndromic_nascimento_type,,,,,,,, 12611,mental_retardation_x_linked_syndromic_raymond_type,,,,,,,, 12612,mental_retardation_x_linked_syndromic_turner_type,,,,,,,, 12613,mental_retardation_x_linked_with_growth_hormone_deficiency,,,,,,,, 12614,mental_retardation_x_linked_with_short_stature_small_testes_muscle_wasting_and_tremor,,,,,,,, 12615,mental_retardation_hypotonic_facies_syndrome_x_linked,x-linked_mental_retardation-hypotonic_facies_syndrome,,,,,C536533|C537457,Q01|Q05, 12616,merrf_melas_overlap_syndrome,,,,,,,, 12617,mertk_related_retinitis_pigmentosa,,,,,,,, 12618,mesomelic_dysplasia_kozlowski_reardon_type,,,,,,,, 12619,mesomelic_dysplasia_nievergelt_type,,,,,,,, 12620,mesomelic_dysplasia_werner_type,,,,,,,, 12621,mesp2_related_spondylocostal_dysostosis_autosomal_recessive,,,,,,,, 12622,metaphyseal_anadysplasia_1,,,,,,,, 12623,methylmalonate_semialdehyde_dehydrogenase_deficiency,,,,,,,, 12624,mhc_class_ii_deficiency_complementation_group_b,,,,,,,, 12625,mhs2_related_malignant_hyperthermia_susceptibility,,,,,,,, 12626,mhs3_related_malignant_hyperthermia_susceptibility,,,,,,,, 12627,mhs4_related_malignant_hyperthermia_susceptibility,,,,,,,, 12628,mhs6_related_malignant_hyperthermia_susceptibility,,,,,,,, 12629,microcephaly_cortical_malformations_and_mental_retardation,,,,,,,, 12630,microlissencephaly,,,,,,,Q04.3, 12631,microlissencephaly_i,,,,,,,, 12632,microlissencephaly_ii,,,,,,,, 12633,microlissencephaly_iii,,,,,,,, 12634,microtia,microtia,,,,Q17.2,C537772,Q17.2,35045004 12635,microtia_hearing_impairment_and_cleft_palate,,,,,,,, 12636,mild_late_onset_parkinsonism_mapt_related,,,,,,,, 12637,mitochondrial_cardiomyopathy,,,,,,,, 12638,mitochondrial_complex_v_atp_synthase_deficiency_nuclear_type_2,,,,,,,, 12639,mitochondrial_complex_v_atp_synthase_deficiency_nuclear_type_3,,,,,,,, 12640,mitochondrial_disorders_multi_gene_panels_mitochondrial_genes,,,,,,,, 12641,mitochondrial_disorders_multi_gene_panels_nuclear_genes,,,,,,,, 12642,mitochondrial_dna_depletion_syndrome_encephalomyopathic_form,,,,,,,, 12643,mitochondrial_dna_depletion_syndrome_hepatocerebral_form,,,,,,,, 12644,mitochondrial_dna_depletion_syndrome_myopathic_form,,,,,,,, 12645,mitochondrial_membrane_protein_associated_neurodegeneration,,,,,,,, 12646,mitochondrial_phosphate_carrier_deficiency,,,,,,,, 12647,mitochondrial_respiratory_chain_complex_ii_deficiency_sdhaf1_related,,,,,,,, 12648,mitochondrial_respiratory_chain_complex_ii_deficiency_sdha_related,,,,,,,, 12649,mitochondrial_respiratory_chain_complex_iii_deficiency_bcs1l_related,,,,,,,, 12650,mitochondrial_respiratory_chain_complex_iii_deficiency_ttc19_related,,,,,,,, 12651,mitochondrial_respiratory_chain_complex_iii_deficiency_uqcrb_related,,,,,,,, 12652,mitochondrial_respiratory_chain_complex_iii_deficiency_uqcrq_related,,,,,,,, 12653,mitochondrial_respiratory_chain_complex_iii_cytochrome_b_subunit,,,,,,,, 12654,miyoshi_muscular_dystrophy_3,,,,,,,, 12655,mkks_related_bardet_biedl_syndrome,,,,,,,, 12656,mks1_related_bardet_biedl_syndrome,,,,,,,, 12657,mks1_related_meckel_syndrome,,,,,,,, 12658,mlc1_related_megalencephalic_leukoencephalopathy_with_subcortical_cysts,,,,,,,, 12659,mlh1_related_lynch_syndrome,,,,,,,, 12660,mlh1_related_muir_torre_syndrome,,,,,,,, 12661,mlh1_related_turcot_syndrome,,,,,,,, 12662,mlh3_related_lynch_syndrome,,,,,,,, 12663,mmaa_related_methylmalonic_acidemia,,,,,,,, 12664,mmab_related_methylmalonic_acidemia,,,,,,,, 12665,mmadhc_related_methylmalonic_acidemia,,,,,,,, 12666,monogenic_non_syndromic_obesity_autosomal_recessive,,,,,,,, 12667,mononeuropathy_of_the_median_nerve_mild,,,,,,,, 12668,moyamoya_disease_5,,,,,,,, 12669,mpl_related_essential_thrombocythemia,,,,,,,, 12670,mpz_related_intermediate_charcot_marie_tooth_neuropathy,,,,,,,, 12671,msh2_related_lynch_syndrome,,,,,,,, 12672,msh2_related_muir_torre_syndrome,,,,,,,, 12673,msh2_related_turcot_syndrome,,,,,,,, 12674,msh6_related_lynch_syndrome,,,,,,,, 12675,msh6_related_turcot_syndrome,,,,,,,, 12676,msx2_related_craniosynostosis,,,,,,,Q75.8, 12677,mt_co1_related_hearing_loss_and_deafness,,,,,,,, 12678,mt_cyb_related_recurrent_myoglobinuria,,,,,,,, 12679,mthfr_deficiency,,,,,,,, 12680,mthfr_thermolabile_variant,,,,,,,, 12681,mt_rnr1_related_hearing_loss_and_deafness,,,,,,,, 12682,mt_ts1_related_hearing_loss_and_deafness,,,,,,,, 12683,mucopolysaccharidosis_type_ix,,,,,,,E76.2, 12684,mullerian_aplasia_and_hyperandrogenism,,,,,,,Q51.8, 12685,multicentric_carpotarsal_osteolysis_syndrome,,,,,,,, 12686,multicentric_osteolysis_of_torg,,,,,,,, 12687,multiple_cutaneous_and_uterine_leiomyomas,,,,,,,, 12688,multiple_endocrine_neoplasia_type_4,,,,,,,D44.8, 12689,multiple_mitochondrial_dysfunctions_syndrome_1,,,,,,,, 12690,multiple_mitochondrial_dysfunctions_syndrome_2,,,,,,,, 12691,multiple_pterygium_syndrome_dominant,,,,,,,, 12692,multiple_synostoses_syndrome_3,,,,,,,, 12693,multisystemic_smooth_muscle_dysfunction_syndrome,,,,,,,, 12694,muscle_phosphorylase_kinase_deficiency,,,,,,,, 12695,musk_related_congenital_myasthenic_syndrome,,,,,,,, 12696,mut_related_methylmalonic_acidemia,,,,,,,, 12697,myasthenia_limb_girdle_with_tubular_aggregates,,,,,,,, 12698,mybpc3_related_dilated_cardiomyopathy,,,,,,,, 12699,mybpc3_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 12700,myelodysplastic_syndrome_susceptibility_gata2_related,,,,,,,, 12701,myh11_related_thoracic_aortic_aneurysms_and_aortic_dissections,,,,,,,, 12702,myh3_related_arthrogryposis_multiplex_congenita_distal_type_2b,,,,,,,, 12703,myh6_related_dilated_cardiomyopathy,,,,,,,, 12704,myh6_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 12705,myh7_related_dilated_cardiomyopathy,,,,,,,, 12706,myh7_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 12707,myh7_related_myosin_storage_myopathy,,,,,,,G71.2, 12708,myl2_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 12709,myl3_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 12710,mylk_related_thoracic_aortic_aneurysms_and_aortic_dissections,,,,,,,, 12711,myocardial_infarction_susceptibility_to_1,,,,,,,, 12712,myoclonic_epilepsy_myopathy_sensory_ataxia,,,,,,,, 12713,myoglobinuria_acute_recurrent_autosomal_recessive,,,,,,,R82.1, 12714,myokymia_1_with_or_without_hypomagnesemia,,,,,,,, 12715,myopathy_with_postural_muscle_atrophy_x_linked,,,,,,D020389,G71.0,111508004 12716,myopathy_early_onset_areflexia_respiratory_distress_and_dysphagia,,,,,,,, 12717,myopathy_lactic_acidosis_and_sideroblastic_anemia_1,,,,,,,, 12718,myopathy_lactic_acidosis_and_sideroblastic_anemia_2,,,,,,,, 12719,myopia_autosomal,,,,,,,, 12720,myopia_x_linked,,,,,,,, 12721,myosclerosis_autosomal_recessive,,,,,,,, 12722,myotilinopathy,,,,,,,G71.8, 12723,myoz2_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 12724,n_acetylglutamate_synthase_deficiency,n-acetylglutamate_synthase_deficiency,,,,,,E72.2, 12725,narcolepsy_risk_factor,,,,,,,, 12726,natural_killer_cell_and_glucocorticoid_deficiency_with_dna_repair_defect,,,,,,,, 12727,ndp_related_retinopathy_of_prematurity,,,,,,,, 12728,neb_related_nemaline_myopathy,,,,,,,, 12729,neonatal_diabetes_multi_gene_panels,,,,,,,, 12730,nephrogenic_diabetes_insipidus_autosomal,,,,,,,, 12731,nephrogenic_syndrome_of_inappropriate_antidiuresis,,,,,,,, 12732,nephronophthisis_2,,,,,,,, 12733,nephronophthisis_3,,,,,,,Q61.5, 12734,nephronophthisis_4,,,,,,,, 12735,nephronophthisis_7,,,,,,,, 12736,nephronophthisis_8,,,,,,,, 12737,nephronophthisis_9,,,,,,,, 12738,nephronophthisis11,,,,,,,, 12739,nephronophthisis_like_nephropathy_1,,,,,,,, 12740,nephrotic_syndrome_type_3,,,,,,,, 12741,nephrotic_syndrome_type_5_with_or_without_ocular_abnormalities,,,,,,,, 12742,neuroblastoma_susceptibility,,,,,,,, 12743,neurodegeneration_with_brain_iron_accumulation_multi_gene_panels,,,,,,,, 12744,neuronal_ceroid_lipofuscinoses_multi_gene_panels,,,,,,,, 12745,neuronal_ceroid_lipofuscinosis_classic_late_infantile,,,,,,,, 12746,neuronal_ceroid_lipofuscinosis_infantile,infantile_neuronal_ceroid_lipofuscinosis,,,,,,, 12747,nevi_flammei,nevi_flammei,,,,,,Q82.5, 12748,newfoundland_rod_cone_dystrophy,,,,,,,, 12749,nexn_related_dilated_cardiomyopathy,,,,,,,, 12750,nexn_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 12751,nhlrc1_related_lafora_disease,,,,,,,, 12752,nhp2_related_dyskeratosis_congenita,,,,,,,, 12753,nipal4_related_autosomal_recessive_congenital_ichthyosis,,,,,,,, 12754,nipbl_related_cornelia_de_lange_syndrome,,,,,,D003635,Q87.1,40354009 12755,nkx2_1_related_disorders,,,,,,,, 12756,nlgn4_related_x_linked_mental_retardation,,,,,,,, 12757,nmnat1_related_leber_congenital_amaurosis,,,,,,,, 12758,nodal_related_holoprosencephaly,,,,,,,, 12759,nodal_related_visceral_heterotaxy,,,,,,,, 12760,non_classic_cystic_fibrosis_like_syndrome,,,,,,,, 12761,nonepidermolytic_palmoplantar_hyperkeratosis,,,,,,,, 12762,non_nephropathic_cystinosis,,,,,,,, 12763,nonsyndromic_hearing_loss_and_deafness,,,,,,,, 12764,nonsyndromic_hearing_loss_and_deafness_autosomal_dominant,,,,,,,, 12765,nonsyndromic_hearing_loss_and_deafness_autosomal_recessive,,,,,,,, 12766,nonsyndromic_hearing_loss_and_deafness_x_linked,,,,,,,, 12767,noonan_costello_leopard_cardiofaciocutaneous_syndromes_ras_mapk_pathway_multi_gene_panels,,,,,,,, 12768,noonan_like_syndrome_disorder_with_or_without_juvenile_myelomonocytic_leukemia,,,,,,,, 12769,nop10_related_dyskeratosis_congenita,,,,,,,, 12770,north_american_indian_childhood_cirrhosis,,,,,,,K74.6, 12771,notch2_related_alagille_syndrome,,,,,,,Q44.7, 12772,nphp1_related_joubert_syndrome,,,,,,,, 12773,nphp3_related_meckel_syndrome,,,,,,,, 12774,nr0b1_related_46xy_dsd_and_46xy_cgd,,,,,,,, 12775,nr2e3_related_retinitis_pigmentosa,,,,,,,, 12776,nr5a1_related_46xy_dsd_and_46xy_cgd,,,,,,,, 12777,nras_related_noonan_syndrome,,,,,,,, 12778,nrl_related_retinitis_pigmentosa,,,,,,,, 12779,nrtn_related_hirschsprung_disease,,,,,,,, 12780,ntrk1_related_familial_medullary_thyroid_carcinoma,,,,,,,, 12781,nyx_related_x_linked_congenital_stationary_night_blindness,,,,,,,, 12782,obesity_mc4r_related,,,,,,,, 12783,obesity_pparg_related,,,,,,,, 12784,ofd1_related_joubert_syndrome,,,,,,,Q04.3|Q87.0, 12785,ogden_syndrome,,,,,,,, 12786,oguchi_disease_1,oguchi_disease,,,,,C537743,H53.6,193687000 12787,oguchi_disease_2,,,,,,,, 12788,oligodontia_colorectal_cancer_syndrome,,,,,,,, 12789,optic_atrophy_type_7,,,,,,,H47.2, 12790,optn_related_amyotrophic_lateral_sclerosis,,,,,,,, 12791,ornithine_aminotransferase_deficiency,ornithine_aminotransferase_deficiency,,,,,,, 12792,orofacial_cleft_5,,,,,,,, 12793,orofacial_cleft_6_susceptibility_to,,,,,,,, 12794,orofacial_cleft_8,,,,,,,, 12795,orofacial_cleft10,,,,,,,, 12796,orofacial_cleft11,,,,,Q36|Q36.0|Q36.9,,, 12797,orotic_aciduria,orotic_aciduria,,,,,,, 12798,osseus_heteroplasia_progressive,,,,,,,, 12799,osteoarthritis_with_mild_chondrodysplasia,,,,,,,Q77.7, 12800,osteogenesis_imperfecta_type_x,,,,,,,, 12801,osteogenesis_imperfecta_type_xi,,,,,,,, 12802,osteogenesis_imperfecta_type_xii,,,,,,,, 12803,osteopetrosis_with_renal_tubular_acidosis,,,,,Q78.2,,, 12804,ostm1_related_autosomal_recessive_osteopetrosis,,,,,,,, 12805,otx2_related_combined_pituitary_hormone_deficiency,,,,,,,, 12806,ovalocytosis_southeast_asian,,,,,,,D58.1, 12807,ovarian_dysgenesis_1,,,,,,D023961,Q99.1,95198001 12808,ovarian_dysgenesis_2,,,,,,,, 12809,palb2_related_cancer_susceptibility,,,,,,,, 12810,palb2_related_fanconi_anemia,,,,,,,, 12811,palmoplantar_keratoderma_mutilating_with_periorificial_keratotic_plaques,mutilating_palmoplantar_keratoderma_with_periorificial_keratotic_plaques,,,,,,Q82.8, 12812,pancreatic_agenesis_and_congenital_heart_defects,,,,,,,, 12813,pancreatic_cancer_susceptibility_1,,,,,,,, 12814,pancreatic_cancer_susceptibility_2,,,,,,,, 12815,pancreatic_cancer_susceptibility_3,,,,,,,, 12816,papillary_renal_carcinoma,,,,,,,, 12817,parietal_foramina_1,,,,,,,Q75.8, 12818,parietal_foramina_2,,,,,,,, 12819,park7_related_parkinson_disease,,,,,,,, 12820,parkes_weber_syndrome_rasa1_related,,,,,,,, 12821,parkin_type_of_juvenile_parkinson_disease,,,,,,,, 12822,parkinson_disease_multi_gene_panels,,,,,,,, 12823,paroxysmal_extreme_pain_disorder,paroxysmal_extreme_pain_disorder,,,,,,, 12824,paroxysmal_familial_ventricular_fibrillation_1,,,,,,,, 12825,partial_adenosine_deaminase_deficiency,,,,,,,, 12826,partial_isolated_growth_hormone_deficiency,,,,,,,, 12827,pax6_related_anophthalmia,,,,,,,, 12828,pcca_related_propionic_acidemia,,,,,,,, 12829,pccb_related_propionic_acidemia,,,,,,,, 12830,pde6a_related_retinitis_pigmentosa,,,,,,,, 12831,pde6b_related_retinitis_pigmentosa,,,,,,,, 12832,pde6g_related_retinitis_pigmentosa,,,,,,,, 12833,pdss1_related_coenzyme_q10_deficiency,,,,,,,, 12834,pdss2_related_coenzyme_q10_deficiency,,,,,,,, 12835,pdx1_related_permanent_neonatal_diabetes_mellitus,,,,,,,, 12836,pelizaeus_merzbacher_like_disease_1,,,,,,,E75.2, 12837,peripheral_demyelinating_neuropathy_central_dysmyelination_waardenburg_syndrome_and_hirschsprung_disease,,,,,,,E75.2, 12838,periventricular_heterotopia_autosomal_recessive,,,,,,,, 12839,periventricular_heterotopia_ehlers_danlos_variant,,,,,,,, 12840,peroxisome_biogenesis_disorders_multi_gene_panels,,,,,,,, 12841,persistent_hyperplastic_primary_vitreous,persistent_hyperplastic_primary_vitreous,,,,,D054514,Q14.0,314270008|44647001 12842,pervasive_developmental_disorder_not_otherwise_specified,pervasive_developmental_disorder_not_otherwise_specified,,,,,,, 12843,pex7_related_refsum_disease,,,,,,,, 12844,pfeiffer_syndrome_type_1,,,,,,,Q87.0, 12845,pfeiffer_syndrome_type_1_2_and_3,,,,,,,, 12846,pfn1_related_amyotrophic_lateral_sclerosis,,,,,,,, 12847,phka1_related_phosphorylase_kinase_deficiency,,,,,,,, 12848,phka2_related_phosphorylase_kinase_deficiency,,,,,,,, 12849,phkb_related_phosphorylase_kinase_deficiency,,,,,,,, 12850,phkg2_related_phosphorylase_kinase_deficiency,,,,,,,, 12851,phox2a_related_congenital_fibrosis_of_the_extraocular_muscles,,,,,,,, 12852,phox2b_related_neuroblastoma_susceptibility,,,,,,,, 12853,phyh_related_refsum_disease,,,,,,,, 12854,piebald_trait_kit_related,,,,,,,, 12855,piebald_trait_snai2_related,,,,,,,, 12856,pigmented_paravenous_chorioretinal_atrophy,,,,,,,H35.5, 12857,pitt_hopkins_like_syndrome_1,,,,,,,, 12858,pitt_hopkins_like_syndrome_2,,,,,,,, 12859,pitx1_related_congenital_clubfoot,,,,,,,, 12860,pkp1_related_ectodermal_dysplasia_skin_fragility_syndrome,,,,,,,, 12861,pla2g6_related_dystonia_parkinsonism,,,,,,,, 12862,platelet_glycoprotein_iv_deficiency,,,,,,,, 12863,plec1_related_epidermolysis_bullosa_with_pyloric_atresia,,,,,,,, 12864,plekhm1_related_autosomal_recessive_osteopetrosis,,,,,,,, 12865,pln_related_dilated_cardiomyopathy,,,,,,,, 12866,pln_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 12867,pms1_related_lynch_syndrome,,,,,,,, 12868,pms2_related_lynch_syndrome,,,,,,,, 12869,pms2_related_turcot_syndrome,,,,,,,, 12870,pnpla1_related_autosomal_recessive_congenital_ichthyosis,,,,,,,, 12871,pnpla3_related_susceptibility_to_nonalchoholic_fatty_liver_disease,,,,,,,, 12872,polg_related_ataxia_neuropathy_spectrum_disorders,,,,,,,, 12873,polh_related_xeroderma_pigmentosum,,,,,,,, 12874,polr1c_related_treacher_collins_syndrome,,,,,,,, 12875,polr1d_related_treacher_collins_syndrome,,,,,,,, 12876,polymicrogyria_with_optic_nerve_hypoplasia,,,,,,,, 12877,polymicrogyria_asymmetric,,,,,,,Q04.3, 12878,polyneuropathy_hearing_loss_ataxia_retinitis_pigmentosa_and_cataract,,,,,,,, 12879,pomgnt1_related_muscle_diseases,,,,,,,, 12880,pomt1_related_muscle_diseases,,,,,,,, 12881,pomt2_related_muscle_diseases,,,,,,,, 12882,pontocerebellar_hypoplasia_type_1a,,,,,,,, 12883,pontocerebellar_hypoplasia_type_1b,,,,,,,, 12884,porencephaly_2,,,,,,,, 12885,postaxial_polydactyly_type_a,,,,,,,, 12886,posterior_polar_cataract_2,,,,,,,, 12887,posterior_polymorphous_corneal_dystrophy,posterior_polymorphous_corneal_dystrophy,,,,,,, 12888,pou1f1_related_combined_pituitary_hormone_deficiency,,,,,,,, 12889,ppib_related_osteogenesis_imperfecta,,,,,,,, 12890,prader_willi_like_syndrome_associated_with_chromosome_6,,,,,,,, 12891,prcd_related_retinitis_pigmentosa,,,,,,,, 12892,premature_ovarian_failure_7,,,,,,,, 12893,primary_autosomal_recessive_microcephaly_and_microcephalic_dwarfism_multi_gene_panels,,,,,,,, 12894,primary_autosomal_recessive_microcephaly_type_1,,,,,,,, 12895,primary_autosomal_recessive_microcephaly_type_2,,,,,,,, 12896,primary_autosomal_recessive_microcephaly_type_3,,,,,,,Q02, 12897,primary_autosomal_recessive_microcephaly_type_4,,,,,,,, 12898,primary_autosomal_recessive_microcephaly_type_5,,,,,,,, 12899,primary_autosomal_recessive_microcephaly_type_6,,,,,,,, 12900,primary_autosomal_recessive_microcephaly_type_7,,,,,,,, 12901,primary_autosomal_recessive_microcephaly_type_8,,,,,,,, 12902,primary_autosomal_recessive_microcephaly_type_9,,,,,,,, 12903,primary_ciliary_dyskinesia_1_dnai1_related_primary_ciliary_dyskinesia,,,,,,,, 12904,primary_ciliary_dyskinesia_2_dnaaf3_related_primary_ciliary_dyskinesia,,,,,,,, 12905,primary_ciliary_dyskinesia_3_dnah5_related_primary_ciliary_dyskinesia,,,,,,,, 12906,primary_ciliary_dyskinesia_4,,,,,,,, 12907,primary_ciliary_dyskinesia_5_hydin_related_primary_ciliary_dyskinesia,,,,,,,, 12908,primary_ciliary_dyskinesia_6_nme8_related_primary_ciliary_dyskinesia,,,,,,,, 12909,primary_ciliary_dyskinesia_7_dnah11_related_primary_ciliary_dyskinesia,,,,,,,, 12910,primary_ciliary_dyskinesia_8,,,,,,,, 12911,primary_ciliary_dyskinesia_9_dnai2_related_primary_ciliary_dyskinesia,,,,,,,, 12912,primary_ciliary_dyskinesia_multi_gene_panels,,,,,,,, 12913,primary_ciliary_dyskinesia10_dnaaf2_related_primary_ciliary_dyskinesia,,,,,,,, 12914,primary_ciliary_dyskinesia11_rsph4a_related_primary_ciliary_dyskinesia,,,,,,,, 12915,primary_ciliary_dyskinesia12_rsph9_related_primary_ciliary_dyskinesia,,,,,,,, 12916,primary_ciliary_dyskinesia13_dnaaf1_related_primary_ciliary_dyskinesia,,,,,,,, 12917,primary_ciliary_dyskinesia14_ccdc39_related_primary_ciliary_dyskinesia,,,,,,,, 12918,primary_ciliary_dyskinesia15_ccdc40_related_primary_ciliary_dyskinesia,,,,,,,, 12919,primary_ciliary_dyskinesia16_dnal1_related_primary_ciliary_dyskinesia,,,,,,,, 12920,primary_ciliary_dyskinesia17_ccdc103_related_primary_ciliary_dyskinesia,,,,,,,, 12921,primary_ciliary_dyskinesia18_heatr2_related_primary_ciliary_dyskinesia,,,,,,,, 12922,primary_ciliary_dyskinesia19_lrrc6_related_primary_ciliary_dyskinesia,,,,,,,, 12923,primary_hypertrophic_osteoarthropathy_autosomal_recessive,,,,,,,, 12924,progeroid_laminopathies,,,,,,,, 12925,progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_2,,,,,,,, 12926,progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_3,,,,,,,, 12927,progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_4,,,,,H49.4,,, 12928,progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_5,,,,,,,, 12929,progressive_myoclonic_epilepsy_3_with_or_without_intracellular_inclusions,,,,,,,, 12930,progressive_myoclonic_epilepsy_5,,,,,,,, 12931,progressive_myoclonic_epilepsy_6,,,,,,,G40.3, 12932,progressive_supranuclear_palsy_mapt_related,,,,,,,, 12933,proliferative_vasculopathy_and_hydranencephaly_hydrocephaly_syndrome,,,,,,,, 12934,prom1_related_retinitis_pigmentosa,,,,,,,, 12935,proprotein_convertase_1_deficiency,,,,,,,, 12936,proteus_like_syndrome,proteus-like_syndrome,,,,,,, 12937,proximal_renal_tubular_acidosis_with_ocular_abnormalities,,,,,,,N25.8, 12938,prpf_3_related_retinitis_pigmentosa,,,,,,,, 12939,prpf_6_related_retinitis_pigmentosa,,,,,,,, 12940,prpf_8_related_retinitis_pigmentosa,,,,,,,, 12941,prpf31_related_retinitis_pigmentosa,,,,,,,, 12942,prph2_related_adult_onset_vitelliform_macular_dystrophy,,,,,,,, 12943,prph2_related_cone_rod_dystrophy,,,,,,,, 12944,prph2_related_fundus_albipunctatus,,,,,,,, 12945,prph2_related_retinitis_pigmentosa,,,,,,,, 12946,prps1_related_charcot_marie_tooth_neuropathy_x_type_5,,,,,,,, 12947,prps1_related_disorders,,,,,,,, 12948,psen1_related_dilated_cardiomyopathy,,,,,,,, 12949,psen2_related_dilated_cardiomyopathy,,,,,,,, 12950,pseudohypoaldosteronism_type_iib,,,,,,,I15.1, 12951,pseudohypoaldosteronism_type_iic,,,,,,,I15.1, 12952,pseudohypoaldosteronism_type_iid,,,,,,,I15.1, 12953,pseudohypoaldosteronism_type_iie,,,,,,,I15.1, 12954,ptch1_related_holoprosencephaly,,,,,,D016142,Q04.2,30915001 12955,pten_related_proteus_syndrome,,,,,,,, 12956,pth_related_familial_isolated_hypoparathyroidism,,,,,,,, 12957,ptpn11_related_leopard_syndrome,,,,,,,, 12958,ptpn11_related_noonan_syndrome,,,,,,,, 12959,pulmonary_surfactant_metabolism_dysfunction,,,,,,,, 12960,pycr1_related_cutis_laxa,,,,,,,, 12961,pyogenic_sterile_arthritis_pyoderma_gangrenosum_and_acne,,,,,,,, 12962,pyruvate_dehydrogenase_e1_alpha_deficiency,,,,,,,, 12963,pyruvate_dehydrogenase_e1_beta_deficiency,,,,,,,E74.4, 12964,rad21_related_cornelia_de_lange_syndrome,,,,,,,, 12965,rad51c_related_familial_susceptibility_to_breast_ovarian_cancer,,,,,,,, 12966,rad51c_related_fanconi_anemia,,,,,,,, 12967,rad51d_related_familial_susceptibility_to_breast_ovarian_cancer,,,,,,,, 12968,raf1_related_leopard_syndrome,,,,,,,, 12969,raf1_related_noonan_syndrome,,,,,,,, 12970,rapsn_related_congenital_myasthenic_syndrome,,,,,,,, 12971,rapsn_related_fetal_akinesia_deformation_sequence,,,,,,,, 12972,rax_related_anophthalmia_microphthalmia,,,,,,,, 12973,rbm20_related_dilated_cardiomyopathy,,,,,,,, 12974,rbp3_related_retinitis_pigmentosa,,,,,,,, 12975,rd3_related_leber_congenital_amaurosis,,,,,,,, 12976,rdh12_related_leber_congenital_amaurosis,,,,,,,, 12977,rdh12_related_retinitis_pigmentosa,,,,,,,, 12978,rdh5_related_fundus_albipunctatus,,,,,,,, 12979,recessive_dystrophic_epidermolysis_bullosa,recessive_dystrophic_epidermolysis_bullosa,,,,,,, 12980,recessive_dystrophic_epidermolysis_bullosa_generalized_other,,,,,,,Q81.2, 12981,recql4_related_disorders,,,,,,,, 12982,recurrent_fever_multi_gene_panels,,,,,,,, 12983,renal_cysts_and_diabetes_syndrome,,,,,,,E11.2, 12984,renal_hypomagnesemia_4,,,,,,,E83.4, 12985,renal_hypouricemia_1,,,,,,,, 12986,renal_hypouricemia_2,,,,,,,, 12987,renal_tubular_acidosis_distal_with_hemolytic_anemia,,,,,,,, 12988,renal_tubular_dysgenesis_ace_related,,,,,,,, 12989,renal_tubular_dysgenesis_agtr1_related,,,,,,,, 12990,renal_tubular_dysgenesis_agt_related,,,,,,,, 12991,renal_tubular_dysgenesis_ren_related,,,,,,,, 12992,renal_hepatic_pancreatic_dysplasia,renal-hepatic-pancreatic_dysplasia,,,,,,, 12993,retinal_dystrophy_early_onset_severe,,,,,,,, 12994,retinitis_pigmentosa_multi_gene_panels,,,,,,,, 12995,retinitis_pigmentosa_autosomal_recessive_bothnia_type,,,,,,,, 12996,retinitis_pigmentosa_x_linked_and_sinorespiratory_infections_with_or_without_deafness,,,,,,,, 12997,ret_related_hirschsprung_disease,,,,,,,, 12998,ret_related_pheochromocytoma,,,,,,,, 12999,ret_related_renal_adysplasia,,,,,,,, 13000,rett_syndrome_and_variant_rett_syndrome_multi_gene_panels,,,,,,,, 13001,rgr_related_retinitis_pigmentosa,,,,,,,, 13002,rhabdoid_tumor_predisposition_syndrome_1,,,,,,,, 13003,rhizomelic_chondrodysplasia_punctata_spectrum,,,,,,,, 13004,rhombencephalosynapsis,,,,,,,Q04.3,442300000 13005,rho_related_retinitis_pigmentosa,,,,,,,, 13006,ribose_5_phosphate_isomerase_deficiency,ribose-5-phosphate_isomerase_deficiency,,,,,,, 13007,riddle_syndrome,,,,,,,, 13008,rlbp1_related_fundus_albipunctatus,,,,,,,, 13009,rolandic_epilepsy_mental_retardation_and_speech_dyspraxia_x_linked,,,,,,,, 13010,rom1_related_retinitis_pigmentosa,,,,,,,, 13011,ror2_related_disorders,,,,,,,, 13012,rp1_related_retinitis_pigmentosa,,,,,,,, 13013,rp2_related_retinitis_pigmentosa,,,,,,,, 13014,rp9_related_retinitis_pigmentosa,,,,,,,, 13015,rpe65_related_leber_congenital_amaurosis,,,,,,,, 13016,rpe65_related_retinitis_pigmentosa,,,,,,,, 13017,rpgrip1l_related_joubert_syndrome,,,,,,,, 13018,rpgrip1l_related_meckel_syndrome,,,,,,,, 13019,rpgrip1_related_leber_congenital_amaurosis,,,,,,,, 13020,rpgr_related_retinitis_pigmentosa,,,,,,,, 13021,rpl11_related_diamond_blackfan_anemia,,,,,,,, 13022,rpl35a_related_diamond_blackfan_anemia,,,,,,,, 13023,rpl5_related_diamond_blackfan_anemia,,,,,,,, 13024,rps10_related_diamond_blackfan_anemia,,,,,,,, 13025,rps17_related_diamond_blackfan_anemia,,,,,,,, 13026,rps19_related_diamond_blackfan_anemia,,,,,,D029503,D61.0,88854002 13027,rps24_related_diamond_blackfan_anemia,,,,,,,, 13028,rps26_related_diamond_blackfan_anemia,,,,,,,, 13029,rps7_related_diamond_blackfan_anemia,,,,,,,, 13030,rrm2b_related_mitochondrial_dna_depletion_syndrome_encephalomyopathic_form_with_renal_tubulopathy,,,,,,,, 13031,ryr1_related_malignant_hyperthermia_susceptibility,,,,,,,, 13032,ryr1_related_multiminicore_disease,,,,,,,, 13033,ryr2_related_catecholaminergic_polymorphic_ventricular_tachycardia,,,,,,,, 13034,saethre_chotzen_syndrome_fgfr2_related,,,,,,,, 13035,sag_related_retinitis_pigmentosa,,,,,,,, 13036,sall4_related_holt_oram_syndrome,,,,,,,, 13037,sarcoglycanopathies,sarcoglycanopathy,,,,,,, 13038,say_barber_biesecker_variant_of_ohdo_syndrome,,,,,,,, 13039,scheie_syndrome,,,,,,,, 13040,schindler_disease,schindler_disease,,,,,,, 13041,schizophrenia_4,,,,,,,, 13042,schopf_schulz_passarge_syndrome,,,,,,,Q82.8, 13043,scn1a_related_generalized_epilepsy_with_febrile_seizures_plus,,,,,,,, 13044,scn1a_related_intractable_childhood_epilepsy_with_generalized_tonic_clonic_seizures,,,,,,,, 13045,scn1a_related_intractable_infantile_partial_seizures,,,,,,,, 13046,scn1a_related_myoclonic_astatic_epilepsy,,,,,,,, 13047,scn1a_related_severe_myoclonic_epilepsy_in_infancy,,,,,,,, 13048,scn1a_related_simple_febrile_seizures,,,,,,,, 13049,scn1b_related_cardiac_conduction_defect_nonspecific,,,,,,,, 13050,scn1b_related_generalized_epilepsy_with_febrile_seizures_plus,,,,,,,, 13051,scn4a_related_congenital_myasthenic_syndrome,,,,,,,, 13052,scn5a_associated_dilated_cardiomyopathy,,,,,,,, 13053,scn5a_related_brugada_syndrome,,,,,,,, 13054,scn5a_related_dilated_cardiomyopathy,,,,,,,, 13055,scn5a_related_disorders,,,,,,,, 13056,scn5a_related_romano_ward_syndrome,,,,,,,, 13057,scn9a_related_dravet_syndrome,,,,,,,, 13058,scn9a_related_generalized_epilepsy_with_febrile_seizures_plus,,,,,,,, 13059,sdccag8_related_bardet_biedl_syndrome,,,,,,,, 13060,sdha_related_hereditary_paraganglioma_pheochromocytoma_syndrome,,,,,,,, 13061,sdhb_related_hereditary_paraganglioma_pheochromocytoma_syndrome,,,,,,,, 13062,sdhb_related_paraganglioma_and_gastric_stromal_sarcoma,,,,,,,, 13063,sdhc_related_paraganglioma_and_gastric_stromal_sarcoma,,,,,,,, 13064,sdhd_related_hereditary_paraganglioma_pheochromocytoma_syndrome,,,,,,,, 13065,sdhd_related_paraganglioma_and_gastric_stromal_sarcoma,,,,,,,, 13066,sebastian_syndrome,,,,,,C537531,Q87.8|D69.4, 13067,seckel_syndrome_1,,,,,,,, 13068,seckel_syndrome_2,,,,,,,, 13069,seckel_syndrome_4,,,,,,C537533,Q87.1,57917004 13070,seckel_syndrome_5,,,,,,,, 13071,sedlackova_syndrome,,,,,,,, 13072,sema4a_related_retinitis_pigmentosa,,,,,,,, 13073,senior_loken_syndrome_1,,,,,,C537580,Q61.5, 13074,senior_loken_syndrome_4,,,,,,,, 13075,senior_loken_syndrome_5,,,,,,,, 13076,senior_loken_syndrome_6,,,,,,,, 13077,senior_loken_syndrome_7,,,,,,,, 13078,senior_loken_syndrome_multi_gene_panels,,,,,,,, 13079,sepn1_related_congenital_fiber_type_disproportion,,,,,,,, 13080,sepn1_related_multiminicore_disease,,,,,,,, 13081,sepn1_related_myopathy,,,,,,,, 13082,serpinf1_related_osteogenesis_imperfecta,,,,,,,, 13083,serpinh1_related_osteogenesis_imperfecta,,,,,,,, 13084,setx_related_amyotrophic_lateral_sclerosis,,,,,,,, 13085,severe_combined_immune_deficiency_multi_gene_panels,,,,,,,, 13086,severe_combined_immune_deficiency_autosomal_recessive_t_cell_negative_b_cell_positive_nk_cell_positive_il7r_related,,,,,,,, 13087,severe_combined_immune_deficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_rag1_rag2_related,,,,,,,D81.1, 13088,severe_combined_immune_deficiency_autosomal_recessive_t_cell_negative_b_cell_positive_nk_cell_negative_jak3_related_2,,,,,,,, 13089,severe_combined_immune_deficiency_autosomal_recessive_t_cell_negative_b_cell_positive_nk_cell_positive_cd3d_related,,,,,,,, 13090,severe_combined_immune_deficiency_autosomal_recessive_t_cell_negative_b_cell_positive_nk_cell_positive_cd3e_related,,,,,,,, 13091,severe_congenital_neutropenia_autosomal_dominant_2,,,,,,,, 13092,severe_congenital_neutropenia_autosomal_recessive_4,,,,,,,D82.2|D70, 13093,sftpb_related_pulmonary_surfactant_metabolism_dysfunction,,,,,,,J84.0, 13094,sftpc_related_familial_pulmonary_fibrosis,,,,,,,, 13095,sftpc_related_pulmonary_surfactant_metabolism_dysfunction,,,,,,,, 13096,sgcd_related_dilated_cardiomyopathy,,,,,,,, 13097,shh_related_holoprosencephaly,,,,,,,, 13098,short_qt_syndrome,,,,,,,, 13099,short_qt_syndrome_1,,,,,,,, 13100,short_qt_syndrome_2,,,,,,,, 13101,short_qt_syndrome_3,,,,,,,, 13102,short_qt_syndrome_multi_gene_panels,,,,,,,, 13103,short_rib_polydactyly_syndrome_type_v,,,,,,,, 13104,shox_related_short_stature,,,,,,,, 13105,sick_sinus_syndrome_1_autosomal_recessive,,,,,,,, 13106,sick_sinus_syndrome_2_autosomal_dominant,,,,,,,, 13107,simpson_golabi_behmel_syndrome_type_2,,,,,,,Q87.3, 13108,six1_related_branchiootorenal_spectrum_disorders,,,,,,,, 13109,six3_related_holoprosencephaly,,,,,,,, 13110,six5_related_branchiootorenal_spectrum_disorders,,,,,,,, 13111,six6_related_eye_disorders,,,,,,,, 13112,skeletal_dysplasia_multi_gene_panels,,,,,,,, 13113,slc26a4_related_pendred_syndrome,,,,,,,, 13114,slc40a1_related_hereditary_hemochromatosis,,,,,,,, 13115,slc6a20_related_hyperglycinuria,,,,,,,, 13116,slc6a4_related_behavior_disorders,,,,,,,, 13117,slc6a5_related_hyperekplexia,,,,,,,, 13118,slc6a8_related_creatine_transporter_deficiency,,,,,,,, 13119,slc9a6_related_syndromic_mental_retardation,,,,,,,, 13120,slx4_related_fanconi_anemia,,,,,,,, 13121,smad3_related_loeys_dietz_syndrome,,,,,,,, 13122,smad3_related_thoracic_aortic_aneurysms_and_aortic_dissections,,,,,,,, 13123,smad4_related_hereditary_hemorrhagic_telangiectasia,,,,,,,, 13124,smad4_related_juvenile_polyposis,,,,,,,, 13125,smad9_related_heritable_pulmonary_arterial_hypertension,,,,,,,, 13126,small_fiber_neuropathy,,,,,,,, 13127,smarca2_related_coffin_siris_syndrome,,,,,,,, 13128,smarca4_related_coffin_siris_syndrome,,,,,,,, 13129,smarcb1_related_coffin_siris_syndrome,,,,,,,, 13130,smarce1_related_coffin_siris_syndrome,,,,,,,, 13131,smc1a_related_cornelia_de_lange_syndrome,,,,,,,, 13132,smc3_related_cornelia_de_lange_syndrome,,,,,,,, 13133,snca_related_parkinson_disease,,,,,,,, 13134,snrnp200_related_retinitis_pigmentosa,,,,,,,, 13135,sod1_related_amyotrophic_lateral_sclerosis,,,,,,,, 13136,sos1_related_noonan_syndrome,,,,,,,, 13137,sox2_anophthalmia_syndrome,,,,,,,Q87.8, 13138,sp7_related_osteogenesis_imperfecta,,,,,,,, 13139,spastic_paraplegia_30,,,,,,,, 13140,spastic_paraplegia_33,,,,,,,, 13141,spastic_paraplegia_35,,,,,,,, 13142,spastic_paraplegia_42,,,,,,,G11.4, 13143,spastic_paraplegia_44,,,,,,,G11.4, 13144,spastic_paraplegia_48,,,,,,,, 13145,spata7_related_leber_congenital_amaurosis,,,,,,,, 13146,spata7_related_retinitis_pigmentosa,,,,,,,, 13147,spermatogenic_failure_5,,,,,,,, 13148,spermatogenic_failure_6,,,,,,,, 13149,spermatogenic_failure_8,,,,,,,, 13150,spermatogenic_failure_9,,,,,,,, 13151,spg11_related_hereditary_spastic_paraplegia_with_thin_corpus_callosum,,,,,,,, 13152,spherocytosis_type_1,,,,,,C536356|D013103,D58.0,55995005 13153,spherocytosis_type_2,,,,,,,, 13154,spherocytosis_type_3,,,,,,,, 13155,spherocytosis_type_4,,,,,,,, 13156,spherocytosis_type_5,,,,,,,, 13157,spinal_muscular_atrophy_lower_extremity_autosomal_dominant,,,,,,,, 13158,spinal_muscular_atrophy_proximal_adult_autosomal_dominant,,,,,,,, 13159,spink1_related_hereditary_pancreatitis,,,,,,,, 13160,spinocerebellar_ataxia_type10,,,,,,,, 13161,spinocerebellar_ataxia_type11,,,,,,,, 13162,spinocerebellar_ataxia_type12,,,,,,,, 13163,spinocerebellar_ataxia_type13,,,,,,,, 13164,spinocerebellar_ataxia_type14,,,,,,,, 13165,spinocerebellar_ataxia_type15,,,,,,,, 13166,spinocerebellar_ataxia_type17,,,,,,,, 13167,spinocerebellar_ataxia_type20,,,,,,,, 13168,spinocerebellar_ataxia_type23,,,,,,,, 13169,spinocerebellar_ataxia_type27,,,,,,,, 13170,spinocerebellar_ataxia_type28,,,,,,,, 13171,spinocerebellar_ataxia_type35,,,,,,,G11.8, 13172,spinocerebellar_ataxia_autosomal_recessive_10,,,,,,,, 13173,spinocerebellar_ataxia_autosomal_recessive_9,,,,,,,G11.1, 13174,split_hand_foot_malformation_3,,,,,,,, 13175,split_hand_foot_malformation_5,,,,,,,, 13176,split_hand_foot_malformation_type_4,,,,,,,, 13177,spondylocheirodysplasia_ehlers_danlos_syndrome_like,,,,,,,Q79.6, 13178,spondylocostal_dysostosis_autosomal_dominant,,,,,,,Q76.4, 13179,spondylocostal_dysostosis_autosomal_recessive_multi_gene_panels,,,,,,,, 13180,spondylo_megaepiphyseal_metaphyseal_dysplasia,,,,,,,Q77.7, 13181,spontaneous_pneumothorax,,,,,,,, 13182,sry_negative_46xx_testicular_disorder_of_sex_development,,,,,,,, 13183,sry_positive_46xx_testicular_disorder_of_sex_development,,,,,,,, 13184,sry_related_46xy_dsd_and_46xy_cgd,,,,,,,, 13185,stapes_ankylosis_with_broad_thumb_and_toes,,,,,,,Q87.8, 13186,stargardt_disease_3,,,,,,,, 13187,stargardt_disease_4,,,,,,,, 13188,stargardt_disease_multi_gene_panels,,,,,,,, 13189,stargardt_disease_autosomal_recessive,,,,,,,, 13190,steroid_5_alpha_reductase_deficiency,,,,,,,Q56.1, 13191,steroid_resistant_nephrotic_syndrome,,,,,,,, 13192,striatal_degeneration_autosomal_dominant,,,,,,,, 13193,suclg1_related_mitochondrial_dna_depletion_syndrome_encephalomyopathic_form_with_mild_methylmalonic_aciduria,,,,,,,, 13194,sudden_cardiac_death_multi_gene_panels,,,,,,,, 13195,sulfate_transporter_related_osteochondrodysplasia,,,,,,,, 13196,sycp3_related_pregnancy_loss_susceptibility_to,,,,,,,, 13197,syne1_related_emery_dreifuss_muscular_dystrophy,,,,,,,, 13198,syne2_related_emery_dreifuss_muscular_dystrophy,,,,,,,, 13199,syp_related_x_linked_mental_retardation,,,,,,,, 13200,tacr3_related_isolated_gonadotropin_releasing_hormone_gnrh_deficiency,,,,,,,, 13201,tardbp_related_frontotemporal_dementia,,,,,,,, 13202,taz_related_dilated_cardiomyopathy,,,,,,,, 13203,tbx5_related_holt_oram_syndrome,,,,,,,, 13204,tcap_related_dilated_cardiomyopathy,,,,,,,, 13205,tcap_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 13206,tcirg1_related_autosomal_recessive_osteopetrosis,,,,,,,, 13207,tcof1_related_treacher_collins_syndrome,,,,,,,, 13208,tctn1_related_joubert_syndrome,,,,,,,, 13209,tctn2_related_joubert_syndrome,,,,,,,, 13210,tctn2_related_meckel_syndrome,,,,,,,, 13211,terc_related_dyskeratosis_congenita,,,,,,,, 13212,terc_related_familial_pulmonary_fibrosis,,,,,,,, 13213,tert_related_dyskeratosis_congenita,,,,,,,, 13214,tert_related_familial_pulmonary_fibrosis,,,,,,,, 13215,tgfb2_related_loeys_dietz_syndrome,,,,,,,, 13216,tgfbr1_related_loeys_dietz_syndrome,,,,,,,, 13217,tgfbr1_related_thoracic_aortic_aneurysms_and_aortic_dissections,,,,,,,, 13218,tgfbr2_related_loeys_dietz_syndrome,,,,,,,, 13219,tgfbr2_related_thoracic_aortic_aneurysms_and_aortic_dissections,,,,,,,, 13220,tgif1_related_holoprosencephaly,,,,,,,, 13221,tgm1_related_autosomal_recessive_congenital_ichthyosis,,,,,,,, 13222,thalassemia_minor,thalassemia_minor,,,,,,, 13223,thbd_related_atypical_hemolytic_uremic_syndrome,,,,,,,, 13224,thiamine_metabolism_dysfunction_syndrome_2,,,,,,,, 13225,thpo_related_essential_thrombocythemia,,,,,,,, 13226,thrombasthenia_of_glanzmann_and_naegeli_itga2b_related,,,,,,,, 13227,thrombasthenia_of_glanzmann_and_naegeli_itgb3_related,,,,,,,, 13228,thrombocytopenia_4,,,,,,,, 13229,thrombophilia_multi_gene_panels,,,,,,,, 13230,thyroid_dyshormonogenesis_3,,,,,,,, 13231,thyroid_hormonogenesis_defect_i,,,,,,,, 13232,timothy_syndrome_type_1,,,,,,,, 13233,timothy_syndrome_type_2,,,,,,,, 13234,tinf2_related_dyskeratosis_congenita,,,,,,,, 13235,tmem127_related_susceptibility_to_pheochromocytoma,,,,,,,, 13236,tmem138_related_joubert_syndrome,,,,,,,, 13237,tmem216_related_joubert_syndrome,,,,,,,, 13238,tmem216_related_meckel_syndrome,,,,,,,, 13239,tmem237_related_joubert_syndrome,,,,,,,, 13240,tmem67_related_joubert_syndrome,,,,,,,, 13241,tmem67_related_meckel_syndrome,,,,,,,, 13242,tmpo_related_dilated_cardiomyopathy,,,,,,,, 13243,tnfrsf11a_related_autosomal_recessive_osteopetrosis,,,,,,,, 13244,tnfrsf13b_related_common_variable_immune_deficiency,,,,,D80.6,D017074,D83.8|D83,23238000 13245,tnfrsf13c_related_common_variable_immune_deficiency,,,,,,,, 13246,tnfsf11_related_autosomal_recessive_osteopetrosis,,,,,,,, 13247,tnnc1_related_dilated_cardiomyopathy,,,,,,,, 13248,tnnc1_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 13249,tnni2_related_arthrogryposis_multiplex_congenita_distal_type_2b,,,,,,,, 13250,tnni3_related_dilated_cardiomyopathy,,,,,,,, 13251,tnni3_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 13252,tnni3_related_familial_restrictive_cardiomyopathy,,,,,,,, 13253,tnnt1_related_nemaline_myopathy,,,,,,,, 13254,tnnt2_related_dilated_cardiomyopathy,,,,,,,I42.8,427608000 13255,tnnt2_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 13256,tnnt2_related_familial_restrictive_cardiomyopathy,,,,,,,I42.5, 13257,tnnt3_related_arthrogryposis_multiplex_congenita_distal_type_2b,,,,,,,, 13258,tooth_agenesis_selective_1,,,,,,,, 13259,tooth_agenesis_selective_2,,,,,,,, 13260,tooth_agenesis_selective_3,,,,,,,, 13261,tooth_agenesis_selective_4,,,,,,,, 13262,tooth_agenesis_selective_x_linked_1,,,,,,,, 13263,topors_related_retinitis_pigmentosa,,,,,,,, 13264,tp63_related_disorders,,,,,,,, 13265,tpm1_related_dilated_cardiomyopathy,,,,,,,, 13266,tpm1_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 13267,tpm2_related_arthrogryposis_multiplex_congenita_distal_type_2b,,,,,,,, 13268,tpm2_related_nemaline_myopathy,,,,,,,, 13269,tpm3_related_congenital_fiber_type_disproportion,,,,,,,, 13270,tpm3_related_nemaline_myopathy,,,,,,,, 13271,trdn_related_catecholaminergic_polymorphic_ventricular_tachycardia,,,,,,,, 13272,trem2_related_polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy,,,,,,,, 13273,trichohepatoenteric_syndrome_2,,,,,,,, 13274,trichothiodystrophy_nonphotosensitive_1,,,,,,,L67.8, 13275,trigonocephaly_nonsyndromic,,,,,,,, 13276,trim32_related_bardet_biedl_syndrome,,,,,,,, 13277,triphalangeal_thumb,triphalangeal_thumb,,,,,,, 13278,tryptophan_hydroxylase_deficiency,,,,,,,, 13279,tsc1_related_lymphangioleiomyomatosis,,,,,,,, 13280,tsen2_related_pontocerebellar_hypoplasia,,,,,,,, 13281,tsen34_related_pontocerebellar_hypoplasia,,,,,,,, 13282,tsen54_related_pontocerebellar_hypoplasia,,,,,,,, 13283,tspan12_related_familial_exudative_vitreoretinopathy_autosomal_dominant,,,,,,,, 13284,ttc21b_related_joubert_syndrome,,,,,,,, 13285,ttc8_related_bardet_biedl_syndrome,,,,,,,, 13286,ttc8_related_retinitis_pigmentosa,,,,,,,, 13287,ttn_related_dilated_cardiomyopathy,,,,,,,, 13288,ttn_related_familial_hypertrophic_cardiomyopathy,,,,,,,, 13289,tubb3_related_congenital_fibrosis_of_the_extraocular_muscles,,,,,,,, 13290,tulp1_related_leber_congenital_amaurosis,,,,,,,, 13291,tulp1_related_retinitis_pigmentosa,,,,,,,, 13292,tumor_predisposition_syndrome,,,,,,,, 13293,twist1_related_craniosynostosis,,,,,,,Q75.0, 13294,type_1_von_willebrand_disease,,,,,,D056725|D014842,D68.0,128106003|128105004 13295,type_2a_von_willebrand_disease,,,,,,,, 13296,type_2b_von_willebrand_disease,,,,,,,, 13297,type_2m_von_willebrand_disease,,,,,,,, 13298,type_2n_von_willebrand_disease,,,,,,,, 13299,type_3_von_willebrand_disease,,,,,,,, 13300,type_ii_collagenopathies,,,,,,,, 13301,tyrobp_related_polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy,,,,,,,, 13302,tyrosine_hydroxylase_deficient_dopa_responsive_dystonia,,,,,,,, 13303,ubqln2_related_amyotrophic_lateral_sclerosis_frontotemporal_dementia,,,,,,,, 13304,unc119_related_cone_rod_dystrophy,,,,,,,, 13305,upk3a_related_renal_adysplasia,,,,,,,, 13306,ush2a_related_retinitis_pigmentosa,,,,,,,, 13307,usher_syndrome_multi_gene_panels,,,,,,,, 13308,usher_syndrome_type_1g,,,,,,,, 13309,usher_syndrome_type_1h,,,,,,,, 13310,usher_syndrome_type_2d,,,,,,,, 13311,usher_syndrome_type_3a,,,,,,,, 13312,uv_sensitive_syndrome_3,,,,,,,, 13313,vacterl_association_with_hydrocephalus,,,,,,,, 13314,vacterl_association_x_linked_with_or_without_hydrocephalus,,,,,,,, 13315,vacterl_with_hydrocephalus_fancb_related,,,,,,,, 13316,vangl1_related_neural_tube_defect,,,,,,,, 13317,vapb_related_amyotrophic_lateral_sclerosis,,,,,,,, 13318,variant_pku,,,,,,,, 13319,vcl_related_dilated_cardiomyopathy,,,,,,,I42.0, 13320,vcp_related_amyotrophic_lateral_sclerosis_frontotemporal_dementia,,,,,,,, 13321,velocardiofacial_syndrome_2,,,,,,,, 13322,vesicoureteral_reflux_1,,,,,,,, 13323,vesicoureteral_reflux_2,,,,,,,N13.7, 13324,vhl_related_pheochromocytoma,,,,,,,, 13325,vipas39_related_arthrogryposis_renal_dysfunction_and_cholestasis_syndrome,,,,,,,, 13326,vitamin_d_dependent_rickets_type_ii,,,,,,,, 13327,vitamin_d_dependent_rickets_type_i,,,,,,,E55.0, 13328,vitamin_k_dependent_clotting_factors_combined_deficiency_of_1,,,,,,,D68.2, 13329,vitamin_k_dependent_clotting_factors_combined_deficiency_of_2,,,,,,,, 13330,vitreoretinochoroidopathy,,,,,,C536352,H35.5, 13331,vps33b_related_arthrogryposis_renal_dysfunction_and_cholestasis_syndrome,,,,,,C535382,Q89.7, 13332,vps35_related_parkinson_disease,,,,,,,, 13333,vsx2_related_isolated_microphthalmia,,,,,,,, 13334,waardenburg_syndrome_type_iic,,,,,,,, 13335,waardenburg_syndrome_type_iid,,,,,,,, 13336,waardenburg_syndrome_type_iie,,,,,,,, 13337,waardenburg_syndrome_type_iva,,,,,,,Q87.8, 13338,waardenburg_syndrome_type_ivb,,,,,,,, 13339,waardenburg_syndrome_type_ivc,,,,,,,, 13340,warburg_micro_syndrome_1,,,,,,,Q04.3, 13341,warburg_micro_syndrome_2,,,,,,,, 13342,warburg_micro_syndrome_3,,,,,,,, 13343,wdpcp_related_bardet_biedl_syndrome,,,,,,,, 13344,weaver_syndrome_1,,,,,,,, 13345,weaver_syndrome_2,,,,,,,, 13346,weill_marchesani_like_syndrome,,,,,,,, 13347,white_sponge_nevus_of_cannon_krt13_related,,,,,,,, 13348,white_sponge_nevus_of_cannon_krt4_related,,,,,,,, 13349,williams_beuren_region_duplication_syndrome,,,,,,,, 13350,wilms_tumor_aniridia_genital_anomalies_retardation_syndrome,,,,,,,, 13351,winchester_syndrome,winchester_syndrome,,,,,,, 13352,wnt4_related_46xy_dsd_and_46xy_cgd,,,,,,,, 13353,wnt5a_related_robinow_syndrome_autosomal_dominant,,,,,,,, 13354,wolfram_syndrome_2,,,,,,,, 13355,wolfram_syndrome_like_disease,,,,,,,, 13356,woolly_hair_autosomal_recessive,woolly_hair_-_autosomal_recessive,,,,,,, 13357,wrap53_related_dyskeratosis_congenita,,,,,,,, 13358,wt1_related_disorders,,,,,,,, 13359,x_linked_corpus_callosum_agenesis,,,,,,,, 13360,x_linked_familial_exudative_vitreoretinopathy,,,,,,,, 13361,x_linked_hydrocephalus_with_stenosis_of_the_aqueduct_of_sylvius,,,,,,,, 13362,x_linked_leigh_syndrome,,,,,,,, 13363,x_linked_lissencephaly_with_ambiguous_genitalia,,,,,,,, 13364,x_linked_liver_glycogenosis_type_1,,,,,,,, 13365,x_linked_liver_glycogenosis_type_2,,,,,,,, 13366,x_linked_mental_retardation_21,,,,,,,, 13367,x_linked_syndromic_mental_retardation_claes_jensen_type,,,,,,,, 13368,xp113_deletion_syndrome,,,,,,,, 13369,xpa_related_xeroderma_pigmentosum,,,,,,,, 13370,xpc_related_xeroderma_pigmentosum,,,,,,,, 13371,y_chromosome_detection,,,,,,,, 13372,yars_related_intermediate_charcot_marie_tooth_neuropathy,,,,,,,, 13373,zaspopathy,zaspopathy,,,,,,, 13374,zic2_related_holoprosencephaly,,,,,,,Q04.2, 13375,zic3_related_visceral_heterotaxy,,,,,,,, 13376,znf513_related_retinitis_pigmentosa,,,,,,,, 13377,znf674_related_x_linked_mental_retardation,,,,,,,, 13378,znf711_related_x_linked_mental_retardation,,,,,,,, 13379,zonular_pulverulent_cataract_1,,,,,,C538287,Q13.8, 13380,zonular_pulverulent_cataract_3,,,,,,,Q12.0, 13381,benign_recurrent_intrahepatic_cholestasis,,,,,,,K83.1,31155007 13382,abdominal_wall_defect,abdominal_wall_defect,,,,K46|K45.0|K45.1|K45.8|K46.0|K46.1|K46.9,,, 13383,actin_accumulation_myopathy,,,,,,,, 13384,multiple_endocrine_neoplasia,,,,,,,, 13385,adenosine_monophosphate_deaminase_deficiency,adenosine_monophosphate_deaminase_deficiency,,,,,,, 13386,congenital_adrenal_hyperplasia_due_to_11_beta_hydroxylase_deficiency,,,,,,C535978,E25.0,124214007 13387,autosomal_recessive_hypotrichosis,,,,,,,, 13388,2q37_deletion_syndrome,,,,,,,, 13389,3_hydroxyacyl_coa_dehydrogenase_deficiency,3-hydroxyacyl-coa_dehydrogenase_deficiency,,,,,,E71.3, 13390,5_alpha_reductase_deficiency,5-alpha-reductase_deficiency,,,,,,, 13391,amino_acid_transport_disorders_inborn,,,,,E72.0,,, 13392,lattice_corneal_dystrophy_type_ii,,,,,,,, 13393,ataxia_neuropathy_spectrum,,,,,,C537583,, 13394,hereditary_antithrombin_deficiency,,,,,,,, 13395,autosomal_recessive_cerebellar_ataxia_type_1,,,,,,,, 13396,critical_congenital_heart_disease,,,,,,,, 13397,48xxyy_syndrome,,,,,,D007713,Q98.8,403760006 13398,type_1_diabetes,type_1_diabetes,,,,,,, 13399,hereditary_cerebral_amyloid_angiopathy,,,,,,,, 13400,balance_problems,balance_problems,,,,,,, 13401,juvenile_batten_disease,,,,,M08.9|M91.9|M92.9,,, 13402,benign_tumors,benign_tumor,,,,,,, 13403,3_beta_hydroxysteroid_dehydrogenase_deficiency,,,,,,,, 13404,17_hydroxysteroid_dehydrogenase_type_10_deficiency,,,,,,,, 13405,wnt4_mullerian_aplasia_and_ovarian_dysfunction,,,,,,,, 13406,birth_defects,,,,,P11.9|P12.9|P13.9|P14.9|P15.9|P21.9,,, 13407,ohdo_syndrome_maat_kievit_brunner_type,,,,,,,, 13408,blood_clots,blood_clots,,,,,,, 13409,blood_disorders,blood_disorders,,,,,,, 13410,bone_density,bone_density,,,,,,, 13411,brain_malformations,,,,,,,, 13412,col4a1_related_brain_small_vessel_disease,,,,,,C531642,I67.3, 13413,cap_myopathy,,,,,,,, 13414,familial_restrictive_cardiomyopathy,,,,,,,I42.5, 13415,familial_osteochondritis_dissecans,,,,,M94|M94.8,,M93.2, 13416,catsper1_related_nonsyndromic_male_infertility,,,,,,,, 13417,cerebral_hemorrhage,cerebral_hemorrhage,,,,,,, 13418,nonsyndromic_paraganglioma,,,,,,,, 13419,juvenile_primary_osteoporosis,,,,,,,, 13420,koolen_de_vries_syndrome,,,,,,,, 13421,pdgfra_associated_chronic_eosinophilic_leukemia,,,,,D47.5,,D47.5,188733003|413836008 13422,cold_induced_sweating_syndrome,cold-induced_sweating_syndrome,,,,,,G60.8, 13423,isolated_duane_retraction_syndrome,,,,,,,, 13424,colonic_polyps,colonic_polyps,,,,,,, 13425,color_vision_deficiency,color_vision_deficiencies,,,,,,, 13426,combined_pituitary_hormone_deficiency,,,,,,,, 13427,x_linked_infantile_nystagmus,,,,,,,, 13428,congenital_plasminogen_deficiency,,,,,,,, 13429,craniofacial_abnormalities,,,,,,,, 13430,czech_dysplasia,,,,,,,, 13431,deep_vein_thrombosis,deep_vein_thrombosis,,,,,,, 13432,16p112_deletion_syndrome,,,,,,,, 13433,digestive_diseases,digestive_disease,,,,,,, 13434,disorders_of_sex_development,disorders_of_sex_development,,,,,,, 13435,distal_hereditary_motor_neuropathy_type_ii,,,,,,,, 13436,hereditary_sensory_and_autonomic_neuropathy_type_ie,,,,,,,, 13437,dopa_responsive_dystonia,,,,,,,, 13438,naegeli_franceschetti_jadassohn_syndrome_dermatopathia_pigmentosa_reticularis,,,,,,,, 13439,isolated_growth_hormone_deficiency,,,,,,,, 13440,dyserythropoietic_anemia_and_thrombocytopenia,,,,,,,, 13441,early_onset_glaucoma,,,,,,,, 13442,eczema,eczema,,,,,,, 13443,hypercholesterolemia,hypercholesterolemia,,,,,,, 13444,endocrine_diseases,endocrine_disease,,,,,,, 13445,eosinophilic_disorders,,,,,,,, 13446,epidermal_nevus,epidermal_nevus,,,,,C536114|D054000,Q85.8,239107007|25201003 13447,epilepsies_partial,,,,,,,, 13448,esophagus_disorders,,,,,,,, 13449,eye_diseases_hereditary,,,,,,,, 13450,horizontal_gaze_palsy_with_progressive_scoliosis,,,,,,,H49.4, 13451,familial_hyperaldosteronism,,,,,,,, 13452,ren_related_kidney_disease,,,,,,,, 13453,familial_male_limited_precocious_puberty,familial_male-limited_precocious_puberty,,,,E30|E30.1|E30.8,,, 13454,periventricular_heterotopia,,,,,,D054091,Q04.8, 13455,fluid_and_electrolyte_balance,,,,,E87.8,,, 13456,fragile_x_associated_primary_ovarian_insufficiency,,,,,,,, 13457,focal_palmoplantar_keratoderma,,,,,,,, 13458,foot_injuries_and_disorders,,,,,,,, 13459,growth_disorders,growth_disorders,,,,,,, 13460,gum_disease,gum_disease,,,,,,, 13461,hair_loss,hair_loss,,,,,,, 13462,hair_problems,,,,,,,, 13463,hand_injuries_and_disorders,hand_injury,,,,,,, 13464,hereditary_central_nervous_system_demyelinating_diseases,,,,,,,, 13465,hereditary_hypophosphatemic_rickets,,,,,,,, 13466,myopathy_with_deficiency_of_iron_sulfur_cluster_assembly_enzyme,iron-regulatory_proteins,,,,R82.1,,, 13467,hernia,hernia,,,,K40-K46,,, 13468,nonsyndromic_holoprosencephaly,,,,,,,, 13469,huntington_disease_like_syndrome,,,,,,,, 13470,hypoalphalipoproteinemias,hypoalphalipoproteinemia,,,,,D052456,E78.6,15346004|238095002 13471,ichthyosis,ichthyosis,,,,,,, 13472,intrauterine_growth_restriction_metaphyseal_dysplasia_adrenal_hypoplasia_congenita_and_genital_anomalies,,,,,,,Q87.1, 13473,immune_dysregulation_polyendocrinopathy_enteropathy_x_linked_syndrome,,,,,,,, 13474,inherited_thyroxine_binding_globulin_deficiency,,,,,,,, 13475,surfactant_dysfunction,,,,,,,, 13476,intranuclear_rod_myopathy,,,,,,,, 13477,jaundice,jaundice,,,,R17,,, 13478,jaw_injuries_and_disorders,,,,,,,, 13479,joint_disorders,joint_disorder,,,,M24.9|M25.8|M25.9,,, 13480,stargardt_macular_degeneration,,,,,,,H35.5,70099003 13481,succinyl_coa3_ketoacid_coa_transferase_deficiency,,,,,,,, 13482,lipid_metabolism_inborn_errors,,,,,,,, 13483,senior_lken_syndrome,,,,,,,, 13484,3_methylglutaconic_aciduria,3-methylglutaconic_aciduria,,,,,,, 13485,mental_disorders,mental_disorder,,,,,,, 13486,mental_retardation_x_linked,x-linked_mental_retardation,,,,,,, 13487,succinate_coa_ligase_deficiency,,,,,,,, 13488,muscle_disorders,,,,,M62|M63|M62.8|M63.8,,, 13489,myoclonic_epilepsies_progressive,,,,,,,, 13490,pancreatic_diseases,pancreatic_diseases,,,,,,, 13491,paralysis,paralysis,,,,,,, 13492,parathyroid_disorders,parathyroid_disease,,,,E21.4,,, 13493,parkinsonian_disorders,parkinsonian_disorders,,,,,,, 13494,pseudohypoaldosteronism_type_1,,,,,,D011546,N25.8,43941006 13495,primary_spontaneous_pneumothorax,,,,,J94.9,,J93.1, 13496,pyruvate_metabolism_inborn_errors,,,,,,,, 13497,recombinant_8_syndrome,,,,,,,Q99.8, 13498,ring_chromosomes,,,,,,,, 13499,scoliosis,scoliosis,,,,M41|M41.9,,, 13500,skin_conditions,skin_conditions,,,,,,, 13501,spine_injuries_and_disorders,,,,,,,, 13502,toe_injuries_and_disorders,,,,,,,, 13503,tremor,tremor,,,,R25.1,,, 13504,vascular_malformations,vascular_malformation,,,,,,, 13505,46_xy_disorders_of_sex_development,,,,,,,, 13506,aids_neurological_complications,,,,,,,, 13507,angiomatosis,angiomatosis,,,,,,, 13508,anoxia,anoxia,,,,,,, 13509,ataxia,ataxia,,,,R27.0,,, 13510,ataxias_and_cerebellar_or_spinocerebellar_degeneration,,,,,,,, 13511,atrial_fibrillation_and_stroke,,,,,,,, 13512,autonomic_dysfunction,autonomic_dysfunction,,,,,,, 13513,back_pain,back_pain,,,,,,, 13514,benign_focal_amyotrophy,benign_focal_amyotrophy,,,,,,, 13515,brachial_plexus_birth_injuries,,,,,,,, 13516,brain_and_spinal_tumors,,,,,,,, 13517,brain_aneurysm,brain_aneurysm,,,,,,, 13518,brain_injury,brain_injury,,,,,,, 13519,cavernous_malformation,cavernous_malformation,,,,,,, 13520,central_cervical_cord_syndrome,,,,,,,, 13521,central_cord_syndrome,central_cord_syndrome,,,,,,, 13522,cephalic_disorders,cephalic_disorder,,,,,,, 13523,cerebral_aneurysms,cerebral_aneurysm,,,,,,, 13524,cerebral_arteriosclerosis,,,,,,,, 13525,cerebral_atrophy,cerebral_atrophy,,,,,,, 13526,cerebral_beriberi,,,,,,,, 13527,cerebral_hypoxia,cerebral_hypoxia,,,,,,, 13528,chorea,chorea,,,,,,, 13529,chronic_orthostatic_intolerance,,,,,,,, 13530,chronic_pain,chronic_pain,,,,,,, 13531,congenital_vascular_cavernous_malformations,,,,,,,, 13532,cumulative_trauma_disorders,cumulative_trauma_disorders,,,,,,, 13533,cytomegalovirus_infection,,,,,,,, 13534,dawson_disease,dawson_disease,,,,,,, 13535,deep_brain_stimulation_for_parkinsons_disease,,,,,,,, 13536,dementia_subcortical,,,,,,,, 13537,dentate_cerebellar_ataxia,,,,,,,, 13538,dentatorubral_atrophy,,,,,,,, 13539,developmental_dyspraxia,developmental_dyspraxia,,,,,,, 13540,dysautonomia,dysautonomia,,,,,,, 13541,dysphagia,dysphagia,,,,R13,,, 13542,dyssynergia_cerebellaris_progressiva,,,,,,,, 13543,encephaloceles,,,,,,,, 13544,epileptic_hemiplegia,,,,,,,, 13545,erb_duchenne_and_dejerine_klumpke_palsies,,,,,,,, 13546,erbs_palsy,,,,,,,, 13547,extrapontine_myelinolysis,,,,,,,, 13548,fahrs_syndrome,,,,,,,, 13549,fainting,fainting,,,,,,, 13550,familial_hemangioma,,,,,,,, 13551,familial_periodic_paralyses,,,,,,,, 13552,familial_spastic_paralysis,familial_spastic_paralysis,,,,,,, 13553,febrile_seizures,,,,,R56.0,,, 13554,floppy_infant_syndrome,floppy_infant_syndrome,,,,,,, 13555,foot_drop,foot_drop,,,,,,, 13556,generalized_gangliosidoses,,,,,,,, 13557,head_injury,head_injury,,,,S09.8|S09.9,,, 13558,headache,headache,,,,R51|G44.8,,, 13559,hemifacial_spasm,hemifacial_spasm,,,,,,, 13560,hemiplegia_alterans,,,,,,,, 13561,hereditary_neuropathies,,,,,,,, 13562,htlv_1_associated_myelopathy,,,,,,,, 13563,hydromyelia,,,,,Q06.4,,, 13564,hypersomnia,hypersomnia,,,,,,, 13565,hypertonia,hypertonia,,,,,,, 13566,hypotonia,hypotonia,,,,,,, 13567,hypoxia,,,,,,,, 13568,immune_mediated_encephalomyelitis,immune-mediated_encephalomyelitis,,,,,,, 13569,infantile_hypotonia,,,,,,,, 13570,intracranial_cysts,,,,,,,, 13571,levine_critchley_syndrome,,,,,,,, 13572,lupus_neurological_sequelae,,,,,,,, 13573,lyme_disease_neurological_complications,,,,,,,, 13574,megalencephaly,megalencephaly,,,,Q04.5,,Q04.5, 13575,meningitis_and_encephalitis,,,,,,,, 13576,mini_stroke,mini-stroke,,,,,,, 13577,mucolipidoses,mucolipidoses,,,,,,, 13578,myelinoclastic_diffuse_sclerosis,myelinoclastic_diffuse_sclerosis,,,,,,, 13579,myoclonic_encephalopathy_of_infants,,,,,,,, 13580,myoclonus,myoclonus,,,,G25.3,,, 13581,myopathy_thyrotoxic,,,,,,,, 13582,myotonia,myotonia,,,,,,, 13583,neurological_consequences_of_cytomegalovirus_infection,,,,,,,, 13584,neurological_manifestations_of_pompe_disease,,,,,,,, 13585,neuronal_migration_disorders,neuronal_migration_disorders,,,,,,, 13586,neurosarcoidosis,neurosarcoidosis,,,,,,, 13587,nevus_cavernosus,,,,,,,, 13588,occipital_neuralgia,occipital_neuralgia,,,,,,, 13589,osullivan_mcleod_syndrome,,,,,,,G12.8, 13590,overuse_syndrome,overuse_syndrome,,,,,,, 13591,paraneoplastic_syndromes,paraneoplastic_syndrome,,,,,,, 13592,paresthesia,paresthesia,,,,,,, 13593,paroxysmal_choreoathetosis,,,,,,,, 13594,pena_shokeir_ii_syndrome,,,,,,,, 13595,periodic_paralyses,periodic_paralyses,,,,,,, 13596,persistent_vegetative_state,persistent_vegetative_state,,,,,,, 13597,pinched_nerve,pinched_nerve,,,,,,, 13598,pituitary_tumors,pituitary_tumors,,,,,,, 13599,postherpetic_neuralgia,postherpetic_neuralgia,,,,,,, 13600,postinfectious_encephalomyelitis,,,,,,,, 13601,postural_hypotension,postural_hypotension,,,,,,, 13602,primary_dentatum_atrophy,,,,,,,, 13603,progressive_locomotor_ataxia,,,,,,,, 13604,psychogenic_movement,,,,,,,F44.4, 13605,repetitive_motion_disorders,repetitive_motion_disorder,,,,,,, 13606,repetitive_stress_injuries,repetitive_stress_injuries,,,,,,, 13607,retrovirus_associated_myelopathy,retrovirus-associated_myelopathy,,,,,,, 13608,rheumatic_encephalitis,,,,,,,, 13609,sacral_nerve_root_cysts,,,,,,,, 13610,saint_vitus_dance,,,,,,,, 13611,seizure_disorder,seizure_disorder,,,,,,, 13612,shaken_baby_syndrome,shaken_baby_syndrome,,,,,,, 13613,sleep_apnea,sleep_apnea,,,,G47.3,,, 13614,spasticity,spasticity,,,,,,, 13615,spinal_cord_infarction,,,,,,,, 13616,spinal_cord_injury,spinal_cord_injury,,,,,,T09.3,90584004 13617,spinocerebellar_atrophy,spinocerebellar_atrophy,,,,,,, 13618,subcortical_arteriosclerotic_encephalopathy,subcortical_arteriosclerotic_encephalopathy,,,,,,, 13619,syncope,syncope,,,,,,, 13620,syphilitic_spinal_sclerosis,,,,,,,, 13621,syringohydromyelia,,,,,,,, 13622,todds_paralysis,todds_paralysis,,,,,,, 13623,traumatic_brain_injury,traumatic_brain_injury,,,,,,, 13624,vascular_erectile_tumor,,,,,,,, 13625,vasculitis_syndromes_of_the_central_and_peripheral_nervous_systems,,,,,,,, 13626,werdnig_hoffman_disease,,,,,,,, 13627,whiplash,,,,,,,, 13628,nephritis,nephritis,,,,,,, 13629,gastric_cancer,gastric_cancer,,,,,,C16, 13630,teratoma,teratoma,,,,,,, 13631,dysgerminoma,dysgerminoma,,,,,,, 13632,cerebrovascular_accident,cerebrovascular_accident,,,,,,, 13633,sinusitis,sinusitis,,,,,,, 13634,coronary_heart_disease,,,,,,,, 13635,obesity_association_with,,,,,,,, 13636,esophageal_squamous_cell_carcinoma,,,,,,,, 13637,central_hypoventilation_syndrome,central_hypoventilation_syndrome,,,,,,G47.3|Q43.1, 13638,autism_susceptibility_10,,,,,,,, 13639,epididymitis,epididymitis,,,,,,, 13640,harderoporphyria,,,,,,D046349,E80.2,7425008 13641,hypoceruloplasminemia_hereditary,,,,,,,, 13642,xeroderma_pigmentosum_group_a,,,,,,,Q82.1, 13643,obesity_with_impaired_prohormone_processing,,,,,,,E66.8, 13644,carboxypeptidase_n_deficiency,,,,,,,, 13645,gnathodiaphyseal_dysplasia,,,,,,,, 13646,thyroid_adenoma,thyroid_adenoma,,,,,,, 13647,prostate_cancer_progression_of,,,,,,,, 13648,leukopenia,leukopenia,,,,,,, 13649,tetrology_of_fallot,,,,,,,, 13650,systemic_lupus_erythematosus_association_with,,,,,,,, 13651,chronic_obstructive_pulmonary_disease,chronic_obstructive_pulmonary_disease,,,,J44.0|J44.8,,, 13652,thrombosis,thrombosis,,,,,,, 13653,stroke_ischemic,,,,,,,, 13654,varicose_veins,varicose_veins,,,,,,, 13655,warfarin_resistance,,,,,,,, 13656,ileus,ileus,,,,K56.7,,, 13657,atopy,atopy,,,,,,, 13658,gaucher_disease_type_iiic,,,,,,,E75.2, 13659,osteogenesis_imperfecta_type_ii,,,,,,D010013,Q78.0,78314001 13660,short_stature,short_stature,,,,,,, 13661,melorheostosis_with_osteopoikilosis,,,,,,D008557,M85.8|Q78.2,44697002 13662,cetp_deficiency,,,,,,,, 13663,hyperalphalipoproteinemia,,,,,,,E78.4, 13664,lipoprotein_glomerulopathy,,,,,,,, 13665,nephrotic_syndrome_type_2,,,,,,,N04.0, 13666,myopathy_myofibrillar_zasp_related,,,,,,,G71.8, 13667,left_ventricular_noncompaction_3_with_or_without_dilated_cardiomyopathy,,,,,,,, 13668,fibromyalgia,fibromyalgia,,,,M79.7,,, 13669,nephrosis,nephrosis,,,,,,, 13670,nephrosis_congenital_with_or_without_ocular_abnormalities,,,,,,C537185,N04.8, 13671,muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_6,,,,,,,, 13672,muscular_dystrophy_dystroglycanopathy_congenital_with_mental_retardation_type_b_6,,,,,,,G71.2, 13673,muscular_dystrophy_congenital_due_to_partial_lama2_deficiency,,,,,,,, 13674,mesoblastic_nephroma,mesoblastic_nephroma,,,,,,, 13675,immunodeficiency_due_to_defect_in_mapbp_interacting_protein,,,,,,,D82.8, 13676,autism_susceptibility_15,,,,,,,, 13677,hyperopia,hyperopia,,,,,,, 13678,retinitis_pigmentosa_45,,,,,,,, 13679,choroid_cancer,,,,,C69.3,,, 13680,neuropathy_recurrent_with_pressure_palsies,,,,,,,G60.0, 13681,cardiomyopathy_familial_hypertrophic_2,,,,,,,, 13682,cardiomyopathy_familial_hypertrophic_7,,,,,,,, 13683,cardiomyopathy_dilated_2a,,,,,,,, 13684,cardiomyopathy_dilated_1ff,,,,,,,, 13685,ceroid_lipofuscinosis_neuronal_5_variant_late_infantile,,,,,,,E75.4, 13686,bartter_syndrome_type_4_digenic,,,,,,,E26.8, 13687,nephrolithiasis_type_i,,,,,,,, 13688,proteinuria_low_molecular_weight_with_hypercalciuric_nephrocalcinosis,,,,,,,, 13689,myotonia_congenita_recessive,,,,,,,, 13690,myotonia_congenita_dominant,,,,,,,G71.1, 13691,ceroid_lipofuscinosis_neuronal_3_juvenile,,,,,,,E75.4, 13692,bartter_syndrome_type_4b_digenic,,,,,,,, 13693,epilepsy_juvenile_myoclonic_8,,,,,,,, 13694,epilepsy_idiopathic_generalized_11,,,,,,,, 13695,ceroid_lipofuscinosis_neuronal_6_variant_late_infantile,,,,,,,E75.4, 13696,ceroid_lipofuscinosis_neuronal_8_northern_epilepsy_variant,,,,,,,E75.4, 13697,brain_ischemia,brain_ischemia,,,,,,, 13698,endolymphatic_hydrops,endolymphatic_hydrops,,,,,,, 13699,germ_cell_cancer,,,,,,,, 13700,macular_degeneration_age_related_reduced_risk_of,,,,,,,, 13701,hemolytic_uremic_syndrome_atypical_1,,,,,,,, 13702,membranoproliferative_glomerulonephritis_with_cfh_deficiency,,,,,,D015432,D84.1,80321008|59479006 13703,complement_factor_h_deficiency,,,,,,,, 13704,pancreatitis_idiopathic,,,,,,,K86.1, 13705,bronchiectasis_with_or_without_elevated_sweat_chloride_1_modifier_of,,,,,,,J47,233629001 13706,bronchiectasis_with_or_without_elevated_sweat_chloride_1,,,,,,,, 13707,tropical_calcific_pancreatitis,,,,,,,K86.1, 13708,hemolytic_uremic_syndrome_atypical_4,,,,,,,D58.8, 13709,hemolytic_uremic_syndrome_atypical_3,,,,,,,D58.8, 13710,lipoprotein_lipase_deficiency,lipoprotein_lipase_deficiency,,,,,,E78.3, 13711,peritoneal_carcinoma,,,,,,,, 13712,xeroderma_pigmentosum_group_c,,,,,,,Q82.1, 13713,meckel_syndrome_type_4,,,,,,,, 13714,bardet_biedl_syndrome_14,,,,,,D020788,Q87.8,5619004 13715,hiv_type_1,,,,,,,, 13716,agammaglobulinemia_6,,,,,,,, 13717,bone_marrow_cancer,,,,,,,, 13718,severe_combined_immunodeficiency_t_cell_negative_b_cell_natural_killer_cell_positive,,,,,,,D81.2, 13719,malaria_cerebral_reduced_risk_of,,,,,,,, 13720,coronary_heart_disease_7,,,,,,,, 13721,osteoporosis_postmenopausal,,,,,M80.0|M81.0,,, 13722,fibromatosis_gingival,,,,,,,K06.1, 13723,peyronies_disease_2,,,,,,,, 13724,hepatic_adenoma,hepatic_adenoma,,,,,,, 13725,cd8_deficiency_familial,,,,,,,D84.8, 13726,primary_immunodeficiency_disease,primary_immunodeficiency,,,,,,, 13727,cd59_deficiency,,,,,,,D84.1, 13728,vesiculitis,vesiculitis,,,,,,, 13729,immunodeficiency_common_variable_6,,,,,,,, 13730,agammaglobulinemia_3,,,,,,,, 13731,rheumatoid_arthritis_association_with,,,,,,,, 13732,pancreatic_cancer_melanoma_syndrome,,,,,,,, 13733,hypotrichosis_simplex_of_scalp,,,,,,,L65.8, 13734,psoriasis_susceptibility_1,,,,,,,, 13735,hiv_1_resistance_to,,,,,,,, 13736,oophoritis,oophoritis,,,,,,, 13737,parathyroid_adenoma_with_cystic_changes,,,,,,,, 13738,angelman_syndrome_like,,,,,,,, 13739,nephropathy_with_pretibial_epidermolysis_bullosa_and_deafness,,,,,,,, 13740,immunodeficiency_due_to_defect_in_cd3_zeta,,,,,,,, 13741,endometrial_carcinoma_somatic,,,,,,,, 13742,ovarian_carcinoma_somatic,,,,,,,, 13743,breast_cancer_lobular,,,,,,,, 13744,gastric_cancer_familial_diffuse_with_or_without_cleft_lip_and_or_palate,,,,,,,, 13745,gastric_cancer_somatic,,,,,,,, 13746,birbeck_granule_deficiency,,,,,,,, 13747,deafness_autosomal_recessive_12,,,,,,,, 13748,usher_syndrome_type_1d_f_digenic,,,,,,,, 13749,hemolytic_uremic_syndrome_atypical_2,,,,,,,D58.8, 13750,methylmalonic_aciduria_due_to_transcobalamin_receptor_defect,,,,,,,E71.1, 13751,hepatocellular_carcinoma_somatic,,,,,,,, 13752,microcephaly_primary_autosomal_recessive_5_with_or_without_simplified_gyral_pattern,,,,,,,, 13753,lumbar_disc_degeneration,,,,,,,, 13754,exophthalmos,exophthalmos,,,,,,, 13755,menieres_disease_2,,,,,,,, 13756,congenital_disorder_of_glycosylation_type_ip,,,,,,,, 13757,lipoid_adrenal_hyperplasia,,,,,,D000312|C537027,E25.0,237751000 13758,acquired_long_qt_syndrome_reduced,,,,,,,, 13759,neuroblastoma_3,,,,,,,, 13760,hypoproteinemia_hypercatabolic,,,,,,,, 13761,dysalbuminemic_hyperzincemia,,,,,,,E83.2, 13762,diabetes_type_2,type_2_diabetes,,,,,,, 13763,hypophosphatasia_infantile,,,,,,,E83.3,55236002 13764,congenital_disorder_of_glycosylation_type_il,,,,,,,, 13765,frontonasal_dysplasia_2,,,,,,,Q87.0, 13766,asthma_diminished_response_to_antileukotriene_treatment_in,,,,,,,, 13767,protoporphyria_erythropoietic_x_linked_dominant,,,,,,,, 13768,alcohol_sensitivity_acute,,,,,,,, 13769,hangover,hangover,,,,,,, 13770,odontohypophosphatasia,,,,,,D007014,E83.3,190859005|360792001|20756002 13771,hypophosphatasia_adult,,,,,,,, 13772,congenital_disorder_of_glycosylation_type_ik,,,,,,,, 13773,lead_poisoning,lead_poisoning,,,,,,T56.0, 13774,mental_retardation_joint_hypermobility_and_skin_laxity_with_or_without_metabolic_abnormalities,,,,,,,, 13775,frontonasal_dysplasia_3,,,,,,,, 13776,c7_deficiency,,,,,,,, 13777,cutis_laxa_ad,,,,,,,Q82.8,111388003 13778,macular_dystrophy_autosomal_dominant_chromosome_6_linked,,,,,,,, 13779,neutropenia_severe_congenital_autosomal_dominant_1,,,,,,,D70, 13780,ovarioleukodystrophy,ovarioleukodystrophy,,,,,,, 13781,hepatitis_c_virus_resistance_to,,,,,,,, 13782,leukoencephaly_with_vanishing_white_matter,,,,,,,, 13783,hemolytic_uremic_syndrome_atypical_5,,,,,,,D58.8, 13784,retinitis_pigmentosa_54,,,,,,,, 13785,prostate_cancer_hereditary_12,,,,,,,, 13786,hypertension_essential_salt_sensitive,,,,,,,, 13787,orthostatic_intolerance,orthostatic_intolerance,,,,,,, 13788,resting_heart_rate,,,,,,,, 13789,asthma_nocturnal,,,,,,,, 13790,obesity_variation_in,,,,,,,, 13791,alzheimer_disease_6,,,,,,,G30.0, 13792,hypercalciuria_absorptive,,,,,,,E83.5, 13793,adiponectin_deficiency,,,,,,,, 13794,weill_marchesani_syndrome_recessive,,,,,,D056846,Q87.0,205801004|2884008 13795,alzheimer_disease_9_late_onset,,,,,,,, 13796,alcoholism,alcoholism,,,,,,, 13797,alcohol_dependence_protection_against,,,,,,,, 13798,alzheimer_disease_10,,,,,,,, 13799,alzheimer_disease_8,,,,,,,, 13800,agammaglobulinemia_x_linked_1,,,,,,C537409,D80.0,65880007 13801,agammaglobulinemia_and_isolated_hormone_deficiency,,,,,E34.3,,D80.0|E23.0, 13802,sarcoidosis_2,,,,,,,, 13803,maturity_onset_diabetes_of_the_young_type_11,,,,,,,, 13804,agammaglobulinemia_4,,,,,,,, 13805,lysosomal_acid_phosphatase_deficiency,,,,,,,E83.3,57863006 13806,polydactyly_postaxial_types_a1_and_b,,,,,,,Q69.0, 13807,hypothalamic_hamartomas_somatic,,,,,,,D33.0, 13808,globozoospermia,globozoospermia,,,,,,, 13809,spondyloepiphyseal_dysplasia_kimberley_type,,,,,,,Q77.7, 13810,myopathy_actin_congenital_with_excess_of_thin_myofilaments,,,,,,,, 13811,myopathy_congenital_with_fiber_type_disproportion_1,,,,,,,G71.2,240084007 13812,deafness_autosomal_dominant_20_26,,,,,,,, 13813,lemierres_syndrome_2,,,,,,,, 13814,cardiomyopathy_familial_hypertrophic_11,,,,,,,, 13815,microvascular_complications_of_diabetes_3,,,,,,,, 13816,novelty_seeking_personality,,,,,,,, 13817,cor_pulmonale,cor_pulmonale,,,,,,, 13818,endplate_acetylcholinesterase_deficiency,,,,,,,G70.2, 13819,microcornea_rod_cone_dystrophy_cataract_and_posterior_staphyloma,,,,,,,, 13820,retinitis_pigmentosa_50,,,,,,,, 13821,retinitis_pigmentosa_concentric,,,,,,,, 13822,hypercarotenemia_and_vitamin_a_deficiency_autosomal_dominant,,,,,,,E50, 13823,chronic_leukemia,,,,,,,, 13824,xeroderma_pigmentosum_group_b,,,,,,,Q82.1, 13825,myeloproliferative_disorder_with_eosinophilia,,,,,,,, 13826,hyperinsulinemic_hypoglycemia_familial_1,,,,,,,E16.1, 13827,diabetes_permanent_neonatal,,,,,,,, 13828,stargardt_disease_1,,,,,,,, 13829,coronary_artery_disease_in_familial_hypercholesterolemia_protection_against,,,,,,,, 13830,anemia_sideroblastic_with_ataxia,,,,,,,, 13831,earwax_wet_dry,,,,,,,, 13832,axillary_odor_variation_in,,,,,,,, 13833,colostrum_secretion_variation_in,,,,,,,, 13834,inflammatory_bowel_disease_13,,,,,,,, 13835,5_fluorouracil_toxicity,,,,,,,, 13836,warfarin_sensitivity,,,,,,,, 13837,macrothrombocytopenia,,,,,,,D69.4, 13838,gallbladder_disease_4,,,,,,,, 13839,charcot_marie_tooth_disease_axonal_type_2n,,,,,,,G60.0, 13840,multiple_myeloma_resistance_to,,,,,,,, 13841,congenital_disorder_of_glycosylation_type_iii,,,,,,,, 13842,epidermolysis_bullosa_pruriginosa,,,,,,,Q81.2, 13843,epidermolysis_bullosa_dystrophica_ad,,,,,,,Q81.2, 13844,epidermolysis_bullosa_dystrophica_ar,,,,,,,Q81.2, 13845,ebd_bart_type,,,,,,,, 13846,transient_bullous_of_the_newborn,,,,,,C536979,Q81.2, 13847,toenail_dystrophy_isolated,,,,,,,, 13848,ebd_inversa,,,,,,,, 13849,deafness_autosomal_dominant_9,,,,,,,, 13850,ossification_of_the_posterior_longitudinal_spinal_ligaments,,,,,,,, 13851,congenital_disorder_of_glycosylation_type_iih,,,,,,,, 13852,deafness_autosomal_dominant_13,,,,,,,, 13853,deafness_autosomal_recessive_53,,,,,,,, 13854,congenital_disorder_of_glycosylation_type_iij,,,,,,,, 13855,ehlers_danlos_syndrome_cardiac_valvular_form,,,,,,,Q79.6, 13856,corneal_dystrophy_polymorphous_posterior_2,,,,,,,, 13857,epiphyseal_dysplasia_multiple_with_myopia_and_deafness,,,,,,,Q77.3, 13858,platyspondylic_skeletal_dysplasia_torrance_type,,,,,,,Q77.8, 13859,avascular_necrosis_of_the_femoral_head,,,,,,,M87, 13860,stickler_sydrome_type_i_nonsyndromic_ocular,,,,,,,H33.0, 13861,lumbar_disc_herniation,lumbar_disc_herniation,,,,,,, 13862,myosclerosis_congenital,,,,,,,G71.8, 13863,precocious_puberty_male,,,,,,C536961,E30.1,237818003 13864,leydig_cell_hypoplasia_with_pseudohermaphroditism,,,,,,,Q56.1, 13865,leydig_cell_hypoplasia_with_hypergonadotropic_hypogonadism,,,,,,,, 13866,luteinizing_hormone_resistance_female,,,,,,,, 13867,leydig_cell_adenoma_somatic_with_precocious_puberty,,,,,,,, 13868,deafness_autosomal_recessive_67,,,,,,,, 13869,thrombophilia_x_linked_due_to_factor_ix_defect,,,,,,,, 13870,thrombosis_hyperhomocysteinemic,,,,,,,E72.1, 13871,thrombophilia_due_to_factor_v_leiden,,,,,,,, 13872,thrombophilia_due_to_activated_protein_c_resistance,,,,,,,, 13873,combined_factor_v_and_viii_deficiency,,,,,,,D68.8, 13874,factor_xiiia_deficiency,factor_xiiia,,,,,,D68.2, 13875,factor_xi_deficiency_autosomal_recessive,,,,,,,D68.1, 13876,factor_xi_deficiency_autosomal_dominant,,,,,,,, 13877,factor_xiiib_deficiency,,,,,,,, 13878,tumoral_calcinosis_hyperphosphatemic,,,,,,,, 13879,testicular_microlithiasis,testicular_microlithiasis,,,,,,, 13880,gastric_outlet_obstruction,gastric_outlet_obstruction,,,,,,, 13881,epilepsy_generalized_with_febrile_seizures_plus_type_3,,,,,,,, 13882,febrilel_convulsions_familial_8,,,,,,,G40.3, 13883,epilepsy_juvenile_myoclonic_5,,,,,,D020190,G40.3,6204001 13884,galactokinase_deficiency_with_cataracts,,,,,,C535999,E74.2,124302001 13885,colorectal_cancer_1,,,,,,,, 13886,generalized_epilepsy_with_febrile_seizures_plus_type_5,,,,,,,, 13887,epilepsy_idiopathic_generalized_10,,,,,,,, 13888,nicotine_dependence_protection_against,,,,,,,, 13889,cerebral_palsy_spastic_symmetric_autosomal_recessive,,,,,,,, 13890,atrial_septal_defect_2,,,,,,D006344,Q21.1,253366007|405752007|70142008|204315000|204318003 13891,leukemia_megakaryoblastic_with_or_without_down_syndrome,,,,,,D004314,Q90,41040004 13892,leukemia_megakaryoblastic_of_down_syndrome,,,,,,,, 13893,thrombocytopenia_with_beta_thalassemia_x_linked,,,,,D69.6,,D56.1|D69.4, 13894,thalassemia_hispanic_gamma_delta_beta,,,,,,,, 13895,hydrocephalus_due_to_aqueductal_stenosis,,,,,G91|G91.9|G94.2,,Q03.0, 13896,hydrocephalus_with_hirschsprung_disease_and_cleft_palate,,,,,,,, 13897,hydrocephalus_with_congenital_idiopathic_intestinal_pseudoobstruction,,,,,,,, 13898,darsun_syndrome,,,,,,,, 13899,lumbar_disc_disease,lumbar_disc_disease,,,,,,, 13900,scoliosis_idiopathic_3,,,,,,,M41.1,203646004 13901,lung_cancer_susceptibility_2,,,,,,,, 13902,myasthenic_syndrome_fast_channel_congenital,,,,,,,, 13903,creatine_phosphokinase_elevated_serum,,,,,,,, 13904,cocoon_syndrome,,,,,,,, 13905,epilepsy_nocturnal_frontal_lobe_1,,,,,,,, 13906,nicotine_addiction,,,,,,,, 13907,osteosarcoma_somatic,,,,,,,, 13908,myasthenic_syndrome_congenital_associated_with_episodic_apnea,,,,,,D020294,G70.2, 13909,dementia_familial_nonspecific,,,,,,,, 13910,epilepsy_nocturnal_frontal_lobe_type_4,,,,,,,, 13911,epilepsy_nocturnal_frontal_lobe_3,,,,,,,, 13912,asthma_related_traits_7,,,,,,,, 13913,aromatase_excess_syndrome,aromatase_excess_syndrome,,,,,,E30.1, 13914,cryptorchidism_idiopathic,,,,,,,, 13915,renal_tubular_acidosis_with_deafness,,,,,,,N25.8, 13916,alpha_thalassemia_mental_retardation_syndrome,,,,,,,D56.0, 13917,alpha_thalassemia_myelodysplasia_syndrome_somatic,,,,,,,D46.7|D56.0, 13918,spinal_muscular_atrophy_distal_x_linked_3,,,,,,,G12.2, 13919,migraine_familial_basilar,,,,,,,, 13920,myokymia,myokymia,,,,,C535466|D020936,G40.3,230410004 13921,cutis_laxa_autosomal_recessive_type_ii,,,,,,,Q82.8,254223007 13922,deafness_autosomal_recessive_12_modifier_of,,,,,,,, 13923,inflammatory_bowel_disease_10,,,,,,,, 13924,nijmegen_breakage_syndrome_like_disorder,,,,,,,, 13925,breast_cancer_somatic,,,,,,,, 13926,atp_synthase_deficiency_nuclear_encoded,,,,,,,, 13927,doid4019,,,,,,,, 13928,aica_ribosiduria_due_to_atic_deficiency,,,,,,,E79.8, 13929,diabetes_mellitus_insulin_dependent_22,,,,,,,, 13930,hiv_infection_resistance_to,,,,,,,, 13931,aids_resistance_to,,,,,,,, 13932,hiv_aids,,,,,,,, 13933,deafness_autosomal_dominant_44,,,,,,,, 13934,cerebral_cavernous_malformations_3,,,,,,,, 13935,neuropathy_hereditary_sensory_with_spastic_paraplegia,,,,,,,G60.8, 13936,meckel_syndrome_type_6,,,,,,,, 13937,cerebral_cavernous_malformations_2,,,,,,,, 13938,von_hippel_lindau_disease_modification_of,,,,,,,, 13939,arrhythmogenic_right_ventricular_dysplasia_1,,,,,,C536932,Q24.8|I42.8,2829000 13940,arrhythmogenic_right_ventricular_dysplasia_familial_5,,,,,,D019571,I42.8,253528005|281170005 13941,arrhythmogenic_right_ventricular_dysplasia_5,,,,,,,, 13942,bardet_biedl_syndrome_1_modifier_of,,,,,,,, 13943,lissencephaly_x_linked_2,,,,,,,Q04.0|Q04.3, 13944,hydranencephaly_with_abnormal_genitalia,,,,,,,, 13945,retinitis_pigmentosa_2,,,,,,,, 13946,periventricular_heterotopia_with_microcephaly,,,,,,,, 13947,androgen_insensitivity_partial_with_or_without_breast_cancer,,,,,,,E34.5, 13948,hypospadias_1_x_linked,,,,,,,Q54, 13949,chondrodysplasia_punctata_x_linked_recessive,x-linked_recessive_chondrodysplasia_punctata,,,,,C535941,Q77.3, 13950,slowed_nerve_conduction_velocity_ad,,,,,,,G60.0, 13951,epileptic_encephalopathy_early_infantile_8,,,,,,,G25.8, 13952,noonan_syndrome_like_disorder,,,,,,,, 13953,46xy_gonadal_dysgenesis_complete_cbs2_related,,,,,,,, 13954,homocystinuria_b6_responsive_and_nonresponsive_types,,,,,,,, 13955,epilepsy_juvenile_myoclonic_6,,,,,,,, 13956,epilepsy_idiopathic_generalized_9,,,,,,,, 13957,cone_dystrophy_4,,,,,,,, 13958,fanconi_anemia_complementation_group_a,,,,,,D005199,D61.0,30575002 13959,non_hodgkin_lymphoma_somatic,,,,,,,, 13960,diabetes_mellitus_noninsulin_dependent_1,,,,,,,, 13961,cerebellar_ataxia_and_mental_retardation_with_or_without_quadrupedal_locomotion_3,,,,,,,, 13962,hyperchlorhidrosis_isolated,,,,,,,, 13963,breast_cancer_protection_against,,,,,,,, 13964,lung_cancer_protection_against,,,,,,,, 13965,night_blindness_congenital_stationary_x_linked_type_2a,,,,,,C536122,H53.6,232061009 13966,lipodystrophy_congenital_generalized_type_3,,,,,,,, 13967,hypocalciuric_hypercalcemia_type_i,,,,,,C537145,E83.5,237885008|190868007 13968,hyperparathyroidism_neonatal,,,,,,,E21.0, 13969,hypoparathyroidism_autosomal_dominant,,,,,,,, 13970,ventricular_tachycardia_catecholaminergic_polymorphic_2,,,,,,,, 13971,epilepsy_idiopathic_generalized_6,,,,,,,, 13972,osteopetrosis_autosomal_recessive_3_with_renal_tubular_acidosis,,,,,,C536058,Q78.2,254122007 13973,osteoporosis_postmenopausal_susceptibility,,,,,,,, 13974,thyrotoxic_periodic_paralysis_1,,,,,,,G72.3,30967002 13975,spastic_paraplegia_48_autosomal_recessive,,,,,,,G11.4, 13976,hypercholesterolemia_due_to_ligand_defective_apo_b,,,,,,,, 13977,hyperlipoproteinemia_type_ib,,,,,,D008072,E78.3,238086005|267435002|275598004|403827000 13978,hypercholesterolemia_familial_modification_of,,,,,,,, 13979,glomerulosclerosis_focal_segmental_4,,,,,,,, 13980,cerebral_palsy_spastic_quadriplegic_3,,,,,,,, 13981,hypertriglyceridemia,hypertriglyceridemia,,,,,D006953,E78.1,238085009|267433009|34528009 13982,hepatoblastoma_somatic,,,,,,,, 13983,colorectal_cancer_somatic,,,,,,,, 13984,cerebral_amyloid_angiopathy_dutch_italian_iowa_flemish_arctic_variants,,,,,,C537944|D028243,E85.4+|I68.0*,56453003 13985,alzheimer_disease_1_familial,,,,,,,, 13986,amyloidosis_3_or_more_types,,,,,,,E85.1|E85.0, 13987,amyloidosis_renal,,,,,,,, 13988,molybdenum_cofactor_deficiency_type_a,,,,,,,E72.1, 13989,hypobetalipoproteinemia_familial_2,,,,,,,, 13990,hemangioma_capillary_infantile,,,,,,,D18.0, 13991,cardiac_arrhythmia_ankyrin_b_related,,,,,I49.8,,, 13992,persistent_mullerian_duct_syndrome_type_i,,,,,,C536665,Q55.8, 13993,megaloblastic_anemia_1_norwegian_type,,,,,,,D51.1, 13994,persistent_mullerian_duct_syndrome_type_ii,,,,,,,, 13995,amelogenesis_imperfecta_hypoplastic_hypomaturation_type,,,,,,,, 13996,amp_deaminase_deficiency_erythrocytic,,,,,,C538234,E79.8|M79.1,124525004|9105005 13997,arthyrgryposis_distal_type_2b,,,,,,,Q74.3, 13998,c6_deficiency,,,,,,,, 13999,systemic_lupus_erythematosus_or_protection_against,,,,,,,, 14000,hemolytic_anemia_due_to_adenylate_kinase_deficiency,,,,,,,D55.3, 14001,cardiac_conduction_defect,,,,,,,, 14002,progressive_external_ophthalmoplegia_autosomal_dominant_3,,,,,,,, 14003,mitochondrial_dna_depletion_syndrome_7_hepatocerebral_type,,,,,,C535523,G11.1, 14004,retinal_degeneration_late_onset_autosomal_dominant,,,,,,,, 14005,nonsmall_cell_lung_cancer_response_to_tyrosine_kinase_inhibitor_in,,,,,,,, 14006,adenocarcinoma_of_lung_response_to_tyrosine_kinase_inhibitor_in,,,,,,,, 14007,lung_cancer_somatic,,,,,,,, 14008,neuropathy_congenital_hypomyelinating_1,,,,,,,, 14009,retinitis_pigmentosa_juvenile,,,,,,,, 14010,autoimmune_polyendocrinopathy_syndrome_type_i_with_or_without_reversible_metaphyseal_dysplasia,,,,,,C538275,E31.0, 14011,hypothyroidism_autoimmune,,,,,,,, 14012,glycogen_storage_disease_iiia,,,,,,,E74.0, 14013,glycogen_storage_disease_iiib,,,,,,,, 14014,myasthenia_limb_girdle_familial,,,,,,,, 14015,obesity_late_onset,,,,,,,, 14016,ectodermal_dysplasia_anhidrotic_autosomal_dominant,,,,,,,Q82.4,7731005 14017,hair_morphology_1_hair_thickness,,,,,,,, 14018,migraine_resistance_to,,,,,,,, 14019,hirschsprung_disease_4,,,,,,,, 14020,mental_retardation_x_linked_fraxe_type,,,,,,,, 14021,premature_chromatid_separation_trait,,,,,,,, 14022,sensorineural_deafness_with_mild_renal_dysfunction,,,,,,,, 14023,breast_cancer_early_onset,,,,,,,, 14024,fanconi_anemia_complementation_group_j,,,,,,,, 14025,adenocarcinoma_of_lung_somatic,,,,,,,, 14026,leopard_syndrome_3,,,,,,,, 14027,nonsmall_cell_lung_cancer_somatic,,,,,,,, 14028,breast_ovarian_cancer_familial_2,,,,,,,C50|C56, 14029,fanconi_anemia_complementation_group_d1,,,,,,,, 14030,glioblastoma_3,,,,,,,, 14031,li_fraumeni_like_syndrome,,,,,,,, 14032,breast_ovarian_cancer_familial_1,,,,,,,, 14033,major_depressive_disorder_and_accelerated_response_to_antidepressant_drug_treatment,,,,,,,, 14034,nephrolithiasis_osteoporosis_hypophosphatemic_2,,,,,,,, 14035,juvenile_polyposis_syndrome_infantile_form,,,,,,,, 14036,pulmonary_hypertension_primary_fenfluramine_associated,,,,,,,, 14037,premature_ovarian_failure_4,,,,,,,, 14038,hfe_hemochromatosis_modifier_of,,,,,,,, 14039,chrondrodysplasia_acromesomelic_with_genital_anomalies,,,,,,,, 14040,short_sleeper,,,,,,,, 14041,cataract_cortical_juvenile_onset,,,,,,,H26.0, 14042,cataract_juvenile_onset,,,,,,,, 14043,cataract_autosomal_dominant_multiple_types_1,,,,,,,Q12.0, 14044,obsessive_compulsive_disorder_protection_against,,,,,,,, 14045,bulimia_nervosa_age_of_onset_of_weight_loss_in,,,,,,,, 14046,hypercholanemia_familial,,,,,,,, 14047,ehlers_danlos_syndrome_progeroid_form,,,,,,C536201,Q79.6, 14048,paroxysmal_nocturnal_hemoglobinuria_somatic,,,,,,D006457,D59.5,1963002 14049,cataract_posterior_polar_4_syndromic,,,,,,,, 14050,keratosis_seborrheic_somatic,,,,,,,, 14051,parkinson_disease_6_early_onset,,,,,,,, 14052,lethal_congenital_contractural_syndrome_3,,,,,,,Q68.8, 14053,arrhythmogenic_right_ventricular_dysplasia_familial_12,,,,,,,, 14054,hemorrhagic_destruction_of_the_brain_subependymal_calcification_and_cataracts,,,,,,,, 14055,thyroid_dyshormonogenesis_4,,,,,,,, 14056,muscular_dystrophy_congenital_due_to_itga7_deficiency,,,,,,,G71.2, 14057,cerebral_cavernous_malformations_1,,,,,,,D18.0, 14058,systemic_lupus_erythematous_association_with_6,,,,,,,, 14059,epidermolysis_bullosa_junctional_with_pyloric_stenosis,,,,,,,Q81.8, 14060,saethre_chotzen_syndrome_with_eyelid_anomalies,,,,,,,, 14061,asthma_susceptibility_5,,,,,,,, 14062,inflammatory_bowel_disease_14,,,,,,,, 14063,systemic_lupus_erythematosus_10,,,,,,,, 14064,osteopetrosis_recessive_1,,,,,,,Q78.2, 14065,invasive_pneumococcal_disease_recurrent_isolated_1,,,,,,,, 14066,mycobacterium_tuberculosis_protection_against,,,,,,,, 14067,tuberculosis_protection_against,,,,,,,, 14068,intestinal_pseudoobstruction_neuronal,,,,,,C537394,K59.8, 14069,hyperinsulinemic_hypoglycemia_familial_5,,,,,,,E16.1, 14070,joubert_syndrome_1_2,,,,,,,, 14071,nephronophthisis_2_infantile,,,,,,,Q61.5, 14072,maturity_onset_diabetes_of_the_young_type_10,,,,,,,, 14073,diabetes_mellitus_insulin_dependent_2,,,,,,,, 14074,deafness_autosomal_recessive_3,,,,,,,, 14075,cardiomyopathy_familial_hypertrophic_1,,,,,,,, 14076,cardiomyopathy_familial_hypertrophic_4,,,,,,,, 14077,deafness_autosomal_dominant_17,,,,,,,, 14078,macrothrombocytopenia_and_progressive_sensorineural_deafness,,,,,,,, 14079,celiac_disease_4,,,,,,,, 14080,deafness_autosomal_dominant_22,,,,,,,, 14081,deafness_autosomal_recessive_37,,,,,,,, 14082,deafness_autosomal_dominant_22_with_hypertrophic_cardiomyopathy,,,,,,,, 14083,cardiomyopathy_familial_hypertrophic_14,,,,,,,, 14084,becker_muscular_dystrophy_modifier,,,,,,,, 14085,deafness_autosomal_dominant_48,,,,,,,, 14086,cardiomyopathy_familial_hypertrophic_8,,,,,,,, 14087,deafness_autosomal_dominant_4,,,,,,,, 14088,deafness_autosomal_recessive_30,,,,,,,, 14089,carney_complex_variant,,,,,,,D44.8, 14090,microcephaly_and_digital_abnormalities_with_normal_intelligence,,,,,,,, 14091,deafness_autosomal_recessive_2_neurosensory,,,,,,,, 14092,deafness_autosomal_dominant_11_neurosensory,,,,,,,, 14093,glaucoma_primary_open_angle_adult_onset,,,,,,,, 14094,glaucoma_1a_primary_open_angle_juvenile_onset,,,,,,,, 14095,cardiomyopathy_familial_hypertrophic_10,,,,,,,, 14096,maculopathy_impg2_related,,,,,,,, 14097,retinitis_pigmentosa_10,,,,,,,, 14098,inflammatory_bowel_disease_17_protection_against,,,,,,,, 14099,psoriasis_protection_against,,,,,,,, 14100,combined_immunodeficiency_x_linked_moderate,,,,,,,, 14101,diabetes_222100,,,,,,,, 14102,intracranial_hemorrhage_in_brain_cerebrovascular_malformations,,,,,,D002538,Q28.2, 14103,crohn_disease_associated_growth_failure,,,,,,,, 14104,prostate_cancer_progression_and_metastasis_of,,,,,,,, 14105,gastric_cancer_risk_after_h_pylori_infection,,,,,,,, 14106,mycobacterial_and_salmonella_infections,,,,,,,, 14107,aids_slow_progression_to,,,,,,,, 14108,inflammatory_bowel_disease_25_early_onset_autosomal_recessive,,,,,,,K52.8, 14109,microvascular_complications_of_diabetes_4,,,,,,,, 14110,bcg_and_salmonella_infection_disseminated,,,,,,,, 14111,rheumatoid_arthritis_progression_of,,,,,,,, 14112,asthma_and_nasal_polyps,,,,,,,, 14113,diabetes_mellitus_insulin_dependent_10,,,,,,,, 14114,inflammatory_bowel_disease_28_early_onset_autosomal_recessive,,,,,,,, 14115,ige_elevated_level_of,,,,,,,, 14116,night_blindness_congenital_stationary_type_1,,,,,,,, 14117,lip_disease,lip,,,,,,, 14118,adenomas_multiple_colorectal,,,,,,,D12.6, 14119,colorectal_adenomatous_polyposis_autosomal_recessive_with_pilomatricomas,,,,,,,, 14120,asthma_protection_against,,,,,,,, 14121,ectodermal_dysplasia_anhidrotic_lymphedema_and_immunodeficiency,,,,,,,Q78.2, 14122,invasive_pneumococcal_disease_recurrent_isolated_2,,,,,,,, 14123,anemia_hemolytic_due_to_umph1_deficiency,,,,,,,D55.3, 14124,calcification_of_joints_and_arteries,,,,,,,, 14125,glaucoma_1_open_angle_1o,,,,,,,, 14126,inflammatory_bowel_disease_1,,,,,,,, 14127,tyrosine_kinase_2_deficiency,,,,,,,D82.4, 14128,agammaglobulinemia_2,,,,,,,, 14129,agammaglobulinemia_1,,,,,,,D80.0, 14130,growth_retardation_with_deafness_and_mental_retardation_due_to_igf1_deficiency,,,,,,,E34.3, 14131,somatostatin_analog_resistance_to,,,,,,,, 14132,malaria_resistance_to,,,,,,,, 14133,homocystinuria_megaloblastic_anemia_cbl_e_type,,,,,,,E72.1, 14134,neural_tube_defects_folate_sensitive,,,,,,,, 14135,ataxia_spastic_4,,,,,,,G11.8, 14136,centronuclear_myopathy_autosomal_modifier_of,,,,,,,, 14137,spina_bifida_folate_sensitive,,,,,,,, 14138,homocystinuria_due_to_mthfr_deficiency,,,,,,,E72.1, 14139,thromboembolism,thromboembolism,,,,,,, 14140,adrenal_hypoplasia_congenital_with_hypogonadotropic_hypogonadism,,,,,,,E27.1, 14141,corticosteroid_binding_globulin_deficiency,corticosteroid-binding_globulin,,,,,,E27.8, 14142,hypertension_early_onset_autosomal_dominant_with_exacerbation_in_pregnancy,,,,,,,I15.1, 14143,46xy_gonadal_dysgenesis_complete_or_partial_with_or_without_adrenal_failure,,,,,,,, 14144,retinitis_pigmentosa_37,,,,,,,, 14145,obesity_mild_early_onset,,,,,,,, 14146,colorectal_cancer_hereditary_nonpolyposis_type_1,,,,,,D003123,C18,315058005 14147,prostate_cancer_hereditary_13,,,,,,,, 14148,parietal_foramina_with_cleidocranial_dysplasia,,,,,,,Q74.0, 14149,endometrial_cancer_familial,,,,,,,, 14150,deafness_autosomal_recessive_74,,,,,,,, 14151,immunodeficiency_common_variable_5,,,,,,,, 14152,tooth_agenesis_selective_1_with_or_without_orofacial_cleft,,,,,,,K00.0, 14153,bcg_infection_generalized_familial,,,,,,,, 14154,h_pylori_infection,,,,,,,, 14155,mycobacterium_tuberculosis_infection_protection_against,,,,,,,, 14156,hepatitis_b_virus_infection,,,,,,,, 14157,tsc2_angiomyolipomas_renal_modifier_of,,,,,,,, 14158,aids_rapid_progression_to,,,,,,,, 14159,hepatitis_c_virus_response_to_therapy_of,,,,,,,, 14160,hepatitis_c_virus_infection_response_to_therapy_of,,,,,,,, 14161,mental_retardation_x_linked_17_31_microduplication,,,,,,,F79, 14162,muscle_glycogenosis,,,,,,,E74.0, 14163,hirschsprung_disease_short_segment,,,,,,,, 14164,neuroblastoma_2,,,,,,,, 14165,phosphorylase_kinase_deficiency_of_liver_and_muscle_autosomal_recessive,,,,,,,E74.0, 14166,glycogen_storage_disease_type_ixa1,,,,,,,E74.0, 14167,glycogen_storage_disease_type_ixa2,,,,,,,, 14168,d_2_hydrosyglutaric_aciduria_2,,,,,,,, 14169,diabetes_mellitus_insulin_dependent_5,,,,,,,, 14170,celiac_disease_3,,,,,,,, 14171,mucopolysaccharidosis_ih,,,,,,,E76.0,26745009 14172,thrombycytosis,,,,,,,, 14173,eosinophil_peroxidase_deficiency,eosinophil_peroxidase,,,,,,, 14174,breast_cancer_susceptibility,,,,,,,, 14175,atrial_fibrillation_familial_6,,,,,,,, 14176,meckel_syndrome_7,,,,,,,, 14177,asthma_2,,,,,,,, 14178,nephronophthisis_1_juvenile,,,,,,,Q61.5, 14179,endocrine_cerebroosteodysplasia,,,,,,,Q87.8, 14180,progesterone_resistance,,,,,,,, 14181,molybdenum_cofactor_deficiency_type_b,,,,,,,, 14182,hypertension_essential_4,,,,,,,, 14183,hypertension_essential_5,,,,,,,, 14184,hypertension_essential_6,,,,,,,, 14185,hypertension_essential_3,,,,,,,, 14186,hypertension_essential_1,,,,,,,, 14187,hypertension_essential_2,,,,,,,, 14188,zellweger_syndrome_complementation_group_g,,,,,,,, 14189,zellweger_syndrome_1,,,,,,,, 14190,major_depressive_disorder_response_to_citalopram_therapy_in,,,,,,,, 14191,metaphyseal_anadysplasia_2,,,,,,,, 14192,copd_rate_of_decline_of_lung_function_in,,,,,,,, 14193,epidermolysis_bullosa_dystrophica_autosomal_recessive_modifier_of,,,,,,,, 14194,amelogenesis_imperfecta_type_iia2,,,,,,,, 14195,methylmalonic_aciduria_cbld_type_variant_2,,,,,,,, 14196,methylmalonic_aciduria_vitamin_b12_responsive_due_to_defect_in_synthesis_of_adenosylcobalamin_cblb_complementation_type,,,,,,,E71.1, 14197,methylmalonic_aciduria_vitamin_b12_responsive,,,,,,,E71.1, 14198,premature_ovarian_failure_5,,,,,,,, 14199,heterotaxy_visceral_5,,,,,,,Q89.3, 14200,leukodystrophy_hypomyelinating_4,,,,,,,E75.2, 14201,cataract_marner_type,,,,,,C535342,Q12.0, 14202,charcot_marie_tooth_disease_axonal_type_2l,,,,,,,G60.0, 14203,colorectal_cancer_hereditary_nonpolyposis_type_2,,,,,,,, 14204,glottis_carcinoma,,,,,C32.0,,, 14205,gastrointestinal_stromal_tumor_somatic,,,,,,,, 14206,hypereosinophilic_syndrome_idiopathic_resistant_to_imatinib,,,,,,,D47.5,414450004|423294001 14207,lacticacidemia_due_to_pdx1_deficiency,,,,,,C536257|D015325,E74.4,46683007 14208,pigmented_nodular_adrenocortical_disease_primary_2,,,,,,,E24.8, 14209,stroke_1,,,,,,,, 14210,systemic_lupus_erythematosus_2,,,,,,,, 14211,multiple_sclerosis_disease_progression_modifier_of,,,,,,,, 14212,retinal_cone_dystrophy_3,,,,,,,, 14213,ciliary_dyskinesia_primary_6,,,,,,,, 14214,meckel_syndrome_type_1,,,,,,,, 14215,bardet_biedl_syndrome_13,,,,,,,, 14216,cold_induced_autoinflammatory_syndrome_familial,,,,,,,L50.2,238687000 14217,autism_susceptibility_x_linked_1,,,,,,,, 14218,asperger_syndrome_susceptibility_x_linked_1,,,,,,,, 14219,vitiligo_associated_multiple_autoimmune_disease_susceptibility_1,,,,,,,, 14220,autism_susceptibility_x_linked_2,,,,,,,, 14221,asperger_syndrome_susceptibility_x_linked_2,,,,,,,, 14222,waardenburg_syndrome_ocular_albinism_digenic,,,,,,C536463,E70.3, 14223,cataract_polymorphic_and_lamellar,,,,,,,, 14224,deafness_autosomal_dominant_50,,,,,,,, 14225,opitz_g_syndrome_type_i,,,,,,,Q87.8, 14226,mirror_image_polydactyly,,,,,,C535689,Q87.2, 14227,atrial_septal_defect_with_atrioventricular_conduction_defects,,,,,,,Q24.8, 14228,hypothyroidism_congenital_nongoitrous_5,,,,,,,, 14229,bladder_cancer_somatic,,,,,,,, 14230,thyroid_carcinoma_follicular_somatic,,,,,,,, 14231,hypotrichosis_hereditary_marie_unna_type_1,,,,,,C535912,Q84.0, 14232,thrombophilia_due_to_hrg_deficiency,,,,,,,D68.5, 14233,thrombophilia_due_to_elevated_hrg,,,,,,,, 14234,prostate_cancer_hereditary_5,,,,,,,, 14235,hyperpigmentation_familial_progressive,familial_progressive_hyperpigmentation,,,,,,L81.4, 14236,hprt_related_gout,,,,,,,E79.8, 14237,doid13189,,,,,,,, 14238,prostate_cancer_3,,,,,,,, 14239,prostate_cancer_4,,,,,,,, 14240,diabetes_mellitus_noninsulin_dependent_2,,,,,,,, 14241,radioulnar_synostosis_with_amegakaryocytic_thrombocytopenia,,,,,,,Q87.2, 14242,synpolydactyly_type_ii,,,,,,,Q70.9, 14243,synpolydactyly_with_foot_anomalies,,,,,,,, 14244,severe_combined_immunodeficiency_with_microcephaly_growth_retardation_and_sensitivity_to_ionizing_radiation,,,,,,,D81.1, 14245,epilepsy_progressive_myoclonic_2b_lafora,,,,,,D020192,G40.3,230425004 14246,meningioma_nf2_related_somatic,,,,,,,, 14247,diabetes_mellitus_insulin_dependent_20,,,,,,,, 14248,obesity_bmiq12,,,,,,,, 14249,deafness_autosomal_recessive_23,,,,,,,, 14250,hypercholesterolemia_familial_3,,,,,,,, 14251,charcot_marie_tooth_disease_type_2a2,,,,,,,G60.0, 14252,oculoauricular_syndrome,,,,,,,Q87.8, 14253,hmg_coa_synthase_2_deficiency,,,,,,,E71.3, 14254,terminal_osseous_dysplasia,,,,,,,Q87.2, 14255,porphyria_acute_intermittent_nonerythroid_variant,,,,,,,, 14256,retinitis_pigmentosa_38,,,,,,,, 14257,chromosome_5q143_deletion_syndrome,,,,,,,, 14258,muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_3,,,,,,,, 14259,muscular_dystrophy_dystroglycanopathy_congenital_with_mental_retardation_type_b_3,,,,,,,, 14260,renal_cell_carcinoma_papillary_familial_and_sporadic,,,,,,,, 14261,autism_suseptibility_9,,,,,,,, 14262,familial_mediterranean_fever_ar,,,,,,,, 14263,familial_mediterranean_fever_ad,,,,,,D010505,E85.0,12579009|307421005 14264,transposition_of_the_great_arteries_dextro_looped_1,,,,,,,, 14265,rett_syndrome_preserved_speech_variant,,,,,,,, 14266,encephalopathy_neonatal_severe,,,,,,,, 14267,autism_susceptibility_x_linked_3,,,,,,,, 14268,coronary_artery_disease_autosomal_dominant_1,,,,,,,, 14269,short_rib_polydactyly_syndorme_type_ii,,,,,,,, 14270,diarrhea_4_malabsorptive_congenital,,,,,,,P78.3, 14271,nemaline_myopathy_2_autosomal_recessive,,,,,,,, 14272,severe_cutaneous_adverse_reaction_susceptibiliyt_to,,,,,,D013262|D004816,L51.1|L51.2,73442001 14273,sarcoidosis_susceptibility_l_1,,,,,,D012507,D86,31541009 14274,microvascular_complications_of_diabetes_7,,,,,,,, 14275,spondyloarthropathy_1,,,,,,,, 14276,stevens_johnson_syndrome_carbamazepine_induced,,,,,,,, 14277,creutzfeldt_jakob_disease_variant_resistance_to,,,,,,,, 14278,hiv_1_viremia,,,,,,,, 14279,hemolytic_anemia_due_to_hexokinase_deficiency,,,,,,,D55.2, 14280,leigh_syndrome_due_to_mitochondrial_complex_i_deficiency,,,,,,,, 14281,exudative_vitreoretinopathy_x_linked,,,,,,C536382,H35.0,232063007 14282,3_hydroxyisobutryl_coa_hydrolase_deficiency,,,,,,,E71.1, 14283,major_depressive_disorder_1,,,,,,,, 14284,major_depressive_disorder_2,,,,,,,, 14285,pancreatic_cancer_1,,,,,,,, 14286,hypothyroidism_congenital_due_to_thyroid_dysgenesis_or_hypoplasia,,,,,,,E03.1,367524008 14287,rhabdomyosarcoma_2_alveolar,,,,,,D018232,C49,404053004|63449009 14288,semd_pakistani_type,,,,,,,Q77.7, 14289,fanconi_anemia_complementation_group_n,,,,,,,, 14290,pancreatic_cancer_3,,,,,,,, 14291,parkinson_disease_juvenile_type_2,,,,,,,, 14292,adenocarcinoma_ovarian_somatic,,,,,,,, 14293,parkinson_disease_7_autosomal_recessive_early_onset,,,,,,,, 14294,parkinson_disease_11,,,,,,,, 14295,cataract_with_late_onset_corneal_dystrophy,,,,,,,, 14296,foveal_hyperplasia,,,,,,,H26.0, 14297,morning_glory_disc_anomaly,,,,,,,, 14298,optic_nerve_hypoplasia,optic_nerve_hypoplasia,,,,,,H47.0, 14299,hyperphenylalaninemia_non_pku_mild,,,,,,,, 14300,melanoma_susceptibility_5,,,,,,,, 14301,analgesia_from_kappa_opioid_receptor_agonist_female_specific,,,,,,,, 14302,oculocutaneous_albinism_type_ii_modifier_of0,,,,,,C537730,E70.3,26336006 14303,uv_induced_skin_damage,,,,,,,, 14304,lactase_persistance_nonpersistance,,,,,,,, 14305,obesity_severe_bmiq9,,,,,,,E66.8, 14306,3_methylcrotonyl_coa_carboxylase_1_deficiency_2,,,,,,C535308,E71.1,124719001|13144005 14307,glomerulocystic_kidney_disease_with_hyperuricemia_and_isosthenuria,,,,,,,, 14308,3_methylcrotonyl_coa_carboxylase_2_deficiency,,,,,,,, 14309,obesity_autosomal_dominant,,,,,,,, 14310,premature_chromosome_condensation_with_microcephaly_and_mental_retardation,,,,,,,, 14311,glucocorticoid_deficiency_due_to_acth_unresponsiveness,,,,,,,E27.1, 14312,acne_inversa_familial_1,,,,,,,, 14313,chronic_granulomatous_disease_due_to_deficiency_of_ncf_2,,,,,,,, 14314,malaria_mild,,,,,,,, 14315,chronic_granulomatous_disease_due_to_deficiency_of_ncf_1,,,,,,,, 14316,deafness_autosomal_recessive_39,,,,,,,, 14317,hemochromatosis_type_2a,,,,,,C537247,E83.1, 14318,growth_hormone_deficiency_with_pituitary_anomalies,,,,,,,, 14319,sandhoff_disease_infantile_juvenile_and_adult_forms,,,,,,D012497,E75.0,23849003 14320,gm2_gangliosidosis_several_forms,,,,,,,, 14321,hex_a_pseudodeficiency,,,,,,,, 14322,dementia_frontotemporal_with_or_without_parkinsonism,,,,,,,, 14323,mannosidosis_alpha_types_i_and_ii,,,,,,D008363,E77.1,124466001 14324,hypermethioninemia_persistent_autosomal_dominant_due_to_methionine_adenosyltransferase_i_iii_deficiency,,,,,,,E72.1, 14325,methionine_adenosyltransferase_deficiency_autosomal_recessive,,,,,,,, 14326,deafness_autosomal_recessive_49,,,,,,,, 14327,prostate_cancer_somatic,,,,,,,, 14328,brachydacytly_mental_retardation_syndrome,,,,,,C538317,Q93.5, 14329,acetylation_slow,,,,,,,, 14330,schindler_disease_type_iii,,,,,,,, 14331,sick_sinus_syndrome_2,,,,,,D012804,,36083008 14332,albinism_brown_oculocutaneous,,,,,,,, 14333,narcolepsy_1,,,,,G47.4,D009290,G47.4,193042000|60380001 14334,fetal_hemoglobin_quantitative_trait_locus_1,,,,,,,D56.2|D56.4,16360009 14335,heinz_body_anemias_alpha,,,,,,,D58.2, 14336,heinz_body_anemias_beta,,,,,,,, 14337,thalassemia_beta_dominant_inclusion_body,,,,,,,D56.1, 14338,hemochromatosis_type_2b,,,,,,,, 14339,nutrition_disease,deficiency_disease,,,,,,, 14340,hellp_syndrome_maternal_of_pregnancy,,,,,,,, 14341,venous_thromboembolism,venous_thromboembolism,,,,,,, 14342,hyperinsulinemic_hypoglycemia_familial_4,,,,,,,, 14343,atopy_resistance_to,,,,,,,, 14344,sigmoid_colon_cancer,,,,,C18.7,,, 14345,bleeding_disorder_due_to_p2ry12_defect,,,,,,,D69.8, 14346,wilms_tumor_2,,,,,,D009396,C64,25081006|302849000 14347,fasting_plasma_glucose_level_qtl_5,,,,,,,, 14348,diabetes_mellitus_noninsulin_dependent_late_onset,,,,,,,, 14349,adult_i_phenotype_with_congenital_cataract,,,,,,,, 14350,adult_i_phenotype_without_cataract,,,,,,,, 14351,hemolytic_anemia_due_to_gamma_glutamylcysteine_synthetase_deficiency,,,,,,,D55.1, 14352,dystonia_dopa_responsive_with_or_without_hyperphenylalainemia,,,,,,,E70.1|E79.8,23447005|68528007 14353,hyperpehnylalaninemia_bh4_deficient_b,,,,,,,, 14354,tooth_agenesis_selective_6,,,,,,,, 14355,glaucoma_3_primary_congenital_d,,,,,,,, 14356,leprosy_4,,,,,,,, 14357,osteopetrosis_ad_type_i,,,,,,C536056,Q78.2, 14358,hyperostosis_endosteal,,,,,,,, 14359,exudative_vitreoretinopathy_4,,,,,,,, 14360,deafness_autosomal_recessive_63,,,,,,,, 14361,agammaglobulinemia_5,,,,,,,, 14362,coronary_artery_disease_autosomal_dominant_2,,,,,,,, 14363,branchiootorenal_syndrome_with_cataract,,,,,,,, 14364,deafness_autosomal_dominant_10,,,,,,,, 14365,xeroderma_pigmentosum_group_g,,,,,,,Q82.1|Q87.1, 14366,chilblain_lupus,,,,,,C535924,L93.2,238928005|72470008 14367,connective_tissue_benign_neoplasm,,,,,,,, 14368,vohwinkel_syndrome_with_ichthyosis,camisa_disease,,,,,,Q82.8, 14369,deafness_autosomal_recessive_77,,,,,,,, 14370,frontotemporal_lobar_degeneration_with_ubiquitin_positive_inclusions,,,,,,,, 14371,glutaricaciduria_type_iib,,,,,,,E71.3, 14372,glutaricaciduria_type_iia,,,,,,,, 14373,leukemia_acute_myeloid_somatic,,,,,,,, 14374,glutaricaciduria_type_iic,,,,,,,, 14375,deafness_autosomal_recessive_36,,,,,,,, 14376,deafness_autosomal_recessive_35,,,,,,,, 14377,hypotrichosis_localized_autosomal_recessive_3,,,,,,,, 14378,woolly_hair_autosomal_recessive_1,,,,,,C537160,L65.8, 14379,xeroderma_pigmentosum_group_d,,,,,,,Q82.1, 14380,cerebrooculofacioskeletal_syndrome_2,cerebrooculofacioskeletal_syndrome_2,,,,,,, 14381,warsaw_breakage_syndrome,warsaw_breakage_syndrome,,,,,,, 14382,glioblastoma_somatic,,,,,,D001254|D005909,C71.8,254938000|38713004|393563007|63634009 14383,cerebrooculofacioskeletal_syndrome_4,cerebrooculofacioskeletal_syndrome_4,,,,,,, 14384,xeroderma_pigmentosum_group_f,,,,,,,Q82.1, 14385,lethal_congenital_contractural_syndrome_2,,,,,,,Q68.8, 14386,cone_rod_dystrophy_14,,,,,,,, 14387,trichothiodystrophy_complementation_group_a,,,,,,,, 14388,spherocytosis_hereditary_type_5,,,,,,,, 14389,rubinstein_taybi_syndrome_2,,,,,,,, 14390,elliptocytosis_1,,,,,,,, 14391,pyropoikilocytosis,pyropoikilocytosis,,,,,,D58.1,9434008 14392,microvascular_complications_of_diabetes_2,,,,,N98.9|O08.9|O29.9|O74.9|O75.9|O89.9|O90.9|T88.9,,, 14393,hypercholesterolemia_familial_due_to_ldlr_defect_modifier_of,,,,,,,, 14394,epilepsy_progressive_myoclonic_2a_lafora,,,,,,,, 14395,diarrhea_5_with_tufting_enteropathy_congenital,,,,,,,P78.3, 14396,hemolytic_anemia_due_to_glutathione_synthetase_deficiency,,,,,,C536835,D55.1,124706000|234589002 14397,deafness_autosomal_recessive_25,,,,,,,, 14398,deafness_autosomal_dominant_28,,,,,,,H90.3, 14399,friedreich_ataxia_with_retained_reflexes,,,,,,,, 14400,amyotrophic_lateral_sclerosis_6_autosomal_recessive_with_or_without_frontotemporal_dementia,,,,,,D000690,G12.2,86044005 14401,ovarian_response_to_fsh_stimulation,,,,,,,, 14402,deafness_autosomal_dominant_5,,,,,,,, 14403,deafness_mitochondrial_modifier_of,,,,,,,, 14404,deafness_autosomal_recessive_31,,,,,,,, 14405,deafness_autosomal_recessive_59,,,,,,,, 14406,myopathy_desmin_related_cardioskeletal,,,,,,,G71.8, 14407,autoimmune_disease_1,,,,,,,, 14408,lymphedema_distichiasis_syndrome_with_renal_disease_and_diabetes_mellitus,,,,,,,, 14409,premature_ovarian_failure_3,,,,,,,, 14410,xeroderma_pigmentosum_group_e_ddb_negative_subtype,,,,,,D014983,Q82.1,44600005 14411,wilms_tumor_somatic,,,,,,,, 14412,convulsions_familial_febrile_4,,,,,,,, 14413,hemolytic_anemia_nonspherocytic_due_to_glucose_phosphate_isomerase_deficiency,,,,,,,D55.2, 14414,deafness_autosomal_recessive_82,,,,,,,, 14415,molybdenum_cofactor_deficiency_type_c,,,,,,,, 14416,ocular_albinism_type_i_nettleship_falls_type,,,,,,C537863,E70.3,78642008 14417,nonarteritic_anterior_ischemic_optic_neuropathy,,,,,,,, 14418,bernard_soulier_syndrome_benign_autosomal_dominant,,,,,,D001606,D69.1,54569005 14419,mirror_movements_congenital,,,,,,,, 14420,severe_combined_immunodeficiency_athabascan_type,,,,,,,, 14421,subcortical_laminal_heteropia_x_linked,,,,,,,, 14422,heterotopia_periventricular_ed_variant,,,,,Q79.6,,Q79.6, 14423,renal_carcinoma_chromophobe_somatic,,,,,,,, 14424,hemangioma_capillary_infantile_somatic,,,,,,,, 14425,dermatitis_atopic_2,,,,,,,, 14426,atelostogenesis_type_i,,,,,,C535396,Q78.8, 14427,proliferative_vasculopathy_and_hydraencephaly_hydrocephaly_syndrome,,,,,,,, 14428,myopathy_myofibrillar_filamin_c_related,,,,,,,G71.8, 14429,malaria_vivax_protection_against,,,,,,,, 14430,muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4,,,,,,,G71.2|Q04.3,111502003 14431,muscular_dystrophy_dystroglycanopathy_congenital_without_mental_retardation_type_b_4,,,,,,,, 14432,muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_5,,,,,,,, 14433,muscular_dystrophy_dystroglycanopathy_congenital_with_or_without_mental_retardation_type_b_5,,,,,,,G71.2, 14434,muscular_dystrophy_dystroglycanopathy_limb_girdle_type_c_5,,,,,,,G71.0, 14435,rickets_due_to_defect_in_vitamin_d_25_hydroxylation,,,,,,,, 14436,mephenytoin_poor_metabolizer,,,,,,,, 14437,opremazole_poor_metabolizer,,,,,,,, 14438,proguanil_poor_metabolizer,,,,,,,, 14439,clopidogrel_impaired_responsiveness_to,,,,,,,, 14440,coumarin_resistance,,,,,,,, 14441,nicotine_addiction_protection_from,,,,,,,, 14442,lung_cancer_resistance_to,,,,,,,, 14443,methemoglobinemia_type_iv,,,,,,,, 14444,glaucoma_3a_primary_congenital,,,,,Q15.0,,Q15.0, 14445,glaucoma_primary_open_angle_juvenile_onset,,,,,,,, 14446,17_alpha_hydroxylase_1720_lyase_deficiency,,,,,,,E25.0, 14447,1720_lyase_deficiency_isolated,,,,,,,, 14448,chronic_granulomatous_disease_autosomal_due_to_deficiency_of_cyba,,,,,,D006105,D71,191352003|387759001 14449,hypoaldosteronism_congenital_due_to_cmo_ii_deficiency,,,,,,,, 14450,hypoaldosteronism_congenital_due_to_cmo_i_deficiency,,,,,,,E27.4, 14451,debrisoquine_sensitivity,,,,,,,, 14452,codeine_sensitivity,,,,,,,, 14453,methemoglobinemia_type_i,,,,,,,D74.0, 14454,methemoglobinemia_type_ii,,,,,,,, 14455,premature_ovarian_failure_6,,,,,,,, 14456,inclusion_body_myopathy_autosomal_recessive,,,,,,C536816,G71.8, 14457,hypogonadotropic_hypogonadism_due_to_gnrh_deficiency,,,,,,,, 14458,ventricular_tachycardia_idiopathic,,,,,,,, 14459,amyloidosis_hereditary_renal,,,,,,,, 14460,hypophosphatemic_rickets_with_hypercalciuria,,,,,,,E83.3, 14461,cervical_cancer_somatic,,,,,,,, 14462,nevus_keratinocytic_nonepidermolytic,,,,,,,, 14463,scaphocephaly_maxillary_retrusion_and_mental_retardation,,,,,,,Q87.0, 14464,rapid_progression_to_aids_from_hiv1_infection,,,,,,,, 14465,coronary_artery_disease_resistance_to,,,,,,,, 14466,fabry_disease_cardiac_variant,,,,,,,, 14467,startle_disease_hyperekplexia_autosomal_dominant,,,,,,,, 14468,glaucoma_1b_primary_open_angle_adult_onset,,,,,,,, 14469,hyperekplexia_autosomal_recessive,,,,,,,, 14470,megaloblastic_anemia_1_finnish_type,,,,,,,, 14471,mental_retardation_x_linked_syndromic_15_cabezas_type,,,,,,,, 14472,leukocyte_adhesion_deficiency_type_iii,,,,,,,D84.8, 14473,protoporphyria_erythropoietic_autosomal_dominant,,,,,,D046351,E80.0,51022005 14474,mental_retardation_in_cri_du_chat_syndrome,,,,,,C538482|D003410,Q93.4,70173007 14475,cystinosis_late_onset_juvenile_or_adolescent_nephropathic,,,,,,,, 14476,lupus_erythematosus_systemic_susceptibility,,,,,,,, 14477,synpolydactyly_3_34_associated_with_metacarpal_and_metatarsal_synostoses_2,,,,,,,Q70, 14478,parkinson_disease_15_autosomal_recessive,,,,,,,G20, 14479,ectopia_lentis_familial,,,,,,C536184|D004479,Q12.1,74969002 14480,weill_marchesani_syndrome_dominant,,,,,,,Q87.1, 14481,rheumatic_disease,rheumatic_disease,,,,I06.9|I09.9,,, 14482,fructose_16_bidphosphatase_deficiency,,,,,,,E74.1, 14483,charcot_marie_tooth_neuropathy_x_linked_dominant_1,,,,,,C535919,G60.0, 14484,deafness_autosomal_recessive_1a,,,,,,,H90.3, 14485,deafness_autosomal_dominant_3a,,,,,,,, 14486,oculodentodigital_dysplasia_autosomal_recessive,,,,,,,, 14487,deafness_autosomal_dominant_2b,,,,,,,, 14488,deafness_digenic_gjb2_gjb3,,,,,,,, 14489,deafness_autosomal_dominant_3b,,,,,,,, 14490,deafness_autosomal_recessive_1b,,,,,,,, 14491,deafness_digenic_gjb2_gjb6,,,,,,,, 14492,pseudoxanthoma_elasticum_like_disorder_with_multiple_coagulation_factor_deficiency,,,,,,,D68.4, 14493,macular_degeneration_age_related_11,,,,,,,, 14494,cardiomyopathy_familial_hypertrophic_12,,,,,,,, 14495,neutrophilia_hereditary,,,,,,,, 14496,charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis,,,,,,,G60.0, 14497,pheochromocytoma_modifier_of,,,,,,,, 14498,klippel_feil_syndrome_3_autosomal_dominant,,,,,,,, 14499,microphthalmia_with_coloboma_6,,,,,,,, 14500,microphthalmia_isolated_7,,,,,,,, 14501,klippel_feil_syndrome_1_autosomal_dominant,,,,,,,Q76.1, 14502,microphthalmia_isolated_4,,,,,,,, 14503,microphthalmia_with_coloboma_6_digenic,,,,,,,, 14504,fanconi_anemia_complementation_group_b,,,,,,,, 14505,fanconi_anemia_complementation_group_i,,,,,,,, 14506,polydactyly_preaxial_type_ii,,,,,,,, 14507,triphalangeal_thumb_type_i,,,,,,,, 14508,emery_dreifuss_muscular_dystrophy_ad,,,,,,D020389,G71.0, 14509,emery_dreifuss_muscular_dystrophy_ar,,,,,,,, 14510,hypotrichosis_localized_autosomal_recessive_2,,,,,,,, 14511,woolly_hair_autosomal_recessive_2_with_or_without_hypotrichosis,,,,,,,, 14512,myopathy_cardioskeletal_desmin_related_with_cataract,,,,,,,G71.8, 14513,histiocytoma_angiomatoid_fibrous_somatic,,,,,,,, 14514,mental_retardation_autosomal_recessive_2a,,,,,,,, 14515,atrioventricular_septal_defect_2,,,,,,,, 14516,atrioventricular_septal_defect_partial_with_heterotaxy_syndrome,,,,,,,, 14517,cataract_lamellar_2,,,,,,,, 14518,microphthalmia_with_cataract_4,,,,,,,, 14519,cataract_crystalline_aculeiform,,,,,,,Q12.0, 14520,cataract_congenital_cerulean_type_3,,,,,,,, 14521,cataract_nonnuclear_polymorphic_congenital,,,,,,,, 14522,retinitis_pigmentosa_late_onset_dominant,,,,,,,, 14523,retinitis_pigmentosa_12_autosomal_recessive,,,,,,,, 14524,cataract_coppock_like,,,,,,,Q12.0, 14525,cataract_congenital_nuclear_2,,,,,,,Q12.0,53889007 14526,malaria_severe_resistance_to,,,,,,,, 14527,systemic_lupus_erythematosus_9,,,,,,,, 14528,cataract_cerulean_type_2,,,,,,C537955,Q12.0, 14529,cataract_sutural_with_punctate_and_cerulean_opacities,,,,,,,, 14530,cataract_congenital_zonular_with_sutural_opacities,,,,,,,Q12.0, 14531,myopathy_due_to_cpt_ii_deficiency,,,,,,C535589,E71.3,238002005 14532,cpt_deficiency_hepatic_type_ii,,,,,,,E71.3, 14533,cpt_ii_deficiency_lethal_neonatal,,,,,,,E71.3, 14534,cpt_deficiency_hepatic_type_ia,,,,,,,E71.3, 14535,hypophosphatemic_rickets_ar,,,,,,,E83.3, 14536,dimethylglycine_dehydrogenase_deficiency,,,,,,,E72.5, 14537,trichodontoosseous_syndrome,,,,,,C536549,Q82.4,38993008 14538,pyruvate_dehydrogenase_e2_deficiency,,,,,,,E74.4, 14539,deafness_autosomal_dominant_1,,,,,,,, 14540,mental_retardation_fra12a_type,,,,,,,, 14541,x_inactivation_familial_skewed,,,,,,,, 14542,leigh_syndrome_due_to_cox_deficiency,,,,,,,, 14543,medulloblastoma_desmoplastic,,,,,,,, 14544,mitochondrial_dna_depletion_syndrome_5_encephalomyopathic_with_methylmalonic_aciduria,,,,,,,, 14545,mitochondrial_dna_depletion_syndrome_9_encephalomyopathic_type_with_methylmalonic_aciduria,,,,,,,E87.2, 14546,congenital_disorder_of_glycosylation_type_iq,,,,,,,, 14547,rolandic_epilepsy_mental_retardation_and_speech_dyspraxia,,,,,,,, 14548,46xx_true_true_hermaphroditism,,,,,,D050090|D058531,Q56.0|Q99.1,18978002|74398009 14549,retinitis_pigmentosa_juvenile_autosomal_recessive,,,,,,,, 14550,diarrhea_3_secretory_sodium_congenital_syndromic,,,,,,,P78.3, 14551,parkinson_disease_4,,,,,,,, 14552,parkinson_disease_1,,,,,,,G20, 14553,colorectal_cancer_3,,,,,,,, 14554,rhabdoid_predisposition_syndrome_1,,,,,,D018335,,83118000 14555,spinal_muscular_atrophy_type_iii_modifier_of,,,,,,,, 14556,rhabdoid_tumor_predisposition_syndrome_2,,,,,,,, 14557,basal_cell_carcinoma_somatic,,,,,,,, 14558,von_willebrand_disease_type_2a_2b_2m_and_2n,,,,,,D056728,D68.0,359711001|359714009|87397002|128107007|359729006|19520006|359717002|359721009|359732009 14559,von_willibrand_disease_type_3,,,,,,D056729,D68.0,128108002 14560,cerebellar_hypoplasia_and_mental_retardation_with_or_without_quadrupedal_locomotion_1,,,,,,C535731,G11.8,230782004 14561,renal_cell_carcinoma_somatic,,,,,,,, 14562,microvascular_complications_of_diabetes_1,,,,,,,, 14563,rickets_vitamin_d_resistant_type_iia,,,,,,,E83.3, 14564,osteoporosis_involutional,,,,,,,, 14565,spinal_muscular_atrophy_late_onset_finkel_type,,,,,,,G12.1, 14566,spinal_muscular_atrophy_x_linked_2_infantile,,,,,,C535380,Q12.1, 14567,short_stature_idiopathic_familial,,,,,,,, 14568,autism_susceptibility_17,,,,,,,, 14569,microphthalmia_with_coloboma_5,,,,,,,, 14570,macrothrombocytopenia_autosomal_dominant_tubb1_related,,,,,,,D69.4, 14571,surfactant_metabolism_dysfunction_pulmonary_2,,,,,,,, 14572,deafness_autosomal_recessive_91,,,,,,,, 14573,thrombophilia_due_to_heparin_cofactor_ii_deficiency,,,,,,,, 14574,angioedema_hereditary_types_i_and_ii,,,,,,C538577,D84.1,234620006|234619000 14575,complement_component_4_partial_deficiency_of,,,,,,,D84.1, 14576,thyroid_hormone_metabolism_abnormal,,,,,,,E03.8, 14577,cone_rod_dystrophy_10,,,,,,,, 14578,muscular_dystrophy_rigid_spine_1,,,,,,C535683,G71.8|G71.2, 14579,craniolenticulosutural_dysplasia,,,,,,,Q75.8, 14580,preterm_premature_rupture_of_the_membranes,,,,,,,, 14581,pontocerebellar_hypoplasia_type_2b,,,,,,,, 14582,emphysema_due_to_aat_deficiency,,,,,J43|J43.9,C531610|D019896,E88.0,30188007 14583,emphysema_cirrhosis_due_to_aat_deficiency,,,,,,,, 14584,hemorrhagic_diathesis_due_to_antithrombin_pittsburgh_2,,,,,,,, 14585,aicardi_goutieres_syndrome_1_dominant_and_recessive,,,,,,C535607,G31.8,230312006 14586,dyskeratosis_congenita_1,,,,,,,, 14587,deafness_autosomal_recessive_28,,,,,,,, 14588,polycystic_kidney_and_hepatic_disease,,,,,,D017044,Q61.1,28770003 14589,sodium_serum_level_qtl_1,,,,,,,, 14590,epilepsy_generalized_with_febrile_seizures_plus_type_2,,,,,,,, 14591,febrile_convulsions_familial_3a,,,,,,,, 14592,high_density_lipoprotien_cholesterol_level_qtl6,,,,,,,, 14593,febrile_convulsions_familial_3b,,,,,,,, 14594,action_myoclonus_renal_failure_syndrome,,,,,,,, 14595,schizophrenia_12,,,,,,,, 14596,cardiac_conduction_defect_nonspecific,,,,,,,, 14597,bronchiectasis_with_or_without_elevated_sweat_chloride_3,,,,,J47,,, 14598,heart_block_progressive_type_ia,,,,,I45.5,,I45.8, 14599,heart_block_nonprogressive,,,,,,,, 14600,ventricular_fibrillation_familial_1,,,,,,,I49.0, 14601,sick_sinus_syndrome_1,,,,,,,, 14602,seizures_benign_familial_infantile_3,,,,,,,G40.4|G40.3,230410004 14603,myotonia_congenita_atypical_acetazolamide_responsive,,,,,,C538353,G71.1, 14604,seborrhea_like_dermatitis_with_psoriasiform_elements,,,,,,,, 14605,nemaline_myopathy_1_autosomal_dominant,,,,,,,, 14606,cardiomyopathy_familial_hypertrophic_3,,,,,,,, 14607,ceroid_lipofuscinosis_neuronal_2_classic_late_infantile,,,,,,,E75.4, 14608,thyroid_dyshormonogenesis_2a,,,,,,,, 14609,ectrodactyly_ectodermal_dysplasia_and_cleft_lip_palate_syndrome_3,,,,,,,Q82.4, 14610,deafness_autosomal_recessive_79,,,,,,,, 14611,cryptorchidism_bilateral,,,,,,,, 14612,cardiomyopathy_dilated_1z,,,,,,,, 14613,cardiomyopathy_familial_hypertrophic_13,,,,,,,, 14614,ehlers_danlos_due_to_tenascin_x_deficiency,,,,,,,Q79.6, 14615,palmoplantar_hyperkeratosis_with_squamous_cell_carcinoma_of_skin_and_sex_reversal,,,,,,,Q56.0, 14616,palmoplantar_hyperkeratosis_and_true_hermaphroditism,,,,,,,, 14617,ciliary_dyskinesia_primary_11,,,,,,,, 14618,ciliary_dyskinesia_primary_12,,,,,,,, 14619,joubert_syndrome_7,,,,,,,, 14620,meckel_syndrome_type_5,,,,,,,, 14621,macrocytic_anemia_refractory_due_to_5q_deletion_somatic,,,,,,,D46.7, 14622,hypoparathyroidism_autosomal_recessive,,,,,,,, 14623,insulin_resistance,insulin_resistance,,,,,,, 14624,hepatitic_c_virus,,,,,,,, 14625,brachydactyly_type_e2,,,,,,,, 14626,eiken_syndrome,,,,,,,, 14627,failure_of_tooth_eruption_primary,,,,,K00.6,D020254,K03.5,14901003 14628,leopard_syndrome_1,,,,,,C537116|D044542,Q87.8,111306001|403537000 14629,deafness_autosomal_recessive_84,,,,,,,, 14630,bartter_syndrome_type_2,,,,,,D001477,E26.8,71275003 14631,hyperphenylalaninemia_bh4_deficient_a,,,,,,C535325,E70.1, 14632,choanal_atresia_and_lymphedema,,,,,,,, 14633,colon_cancer_somatic,,,,,,,, 14634,glioma_susceptibility_2,,,,,,,, 14635,vater_association_with_macrocephaly_and_ventriculomegaly,,,,,,,Q87.8, 14636,malignant_melanoma_somatic,,,,,,,C43, 14637,squamous_cell_carcinoma_head_and_neck_somatic,,,,,,,, 14638,cowden_like_syndrome,,,,,,,, 14639,ptosis_congenital,,,,,Q10.0,,Q10.0,268163008 14640,asthma_1,,,,,,,, 14641,asthma_aspirin_induced,aspirin-induced_asthma,,,,,,, 14642,charcot_marie_tooth_disease_dominant_intermediate_c,,,,,,,G60.0, 14643,wilms_tumor_type_1,,,,,,,, 14644,nephrotic_syndrome_type_4,,,,,,,N04.8, 14645,glaucoma_1_open_angle_g,,,,,,,, 14646,bardet_biedl_syndrome_15,,,,,,,, 14647,anemia_hemolytic_rh_null_regulator_type,,,,,,,D58.8,37272000 14648,retinitis_pigmentosa_4_autosomal_dominant_or_recessive,,,,,,,, 14649,night_blindness_congenital_stationery_autosomal_dominant_1,,,,,,,, 14650,neutrophil_immunodeficiency_syndrome,neutrophil_immunodeficiency_syndrome,,,,,,D71, 14651,pseudofolliculitis_barbae,pseudofolliculitis_barbae,,,,L73.1,,, 14652,cirrhosis_noncryptogenic,,,,,,,K74.6, 14653,hyperkeratotic_cutaneous_capillary_venous_malformations_associated_with_cerebral_capillary_malformations,,,,,,,, 14654,cavernous_malformations_of_cns_and_retina,,,,,,,, 14655,palmoplantar_verrucous_nevus_unilateral,unilateral_palmoplantar_verrucous_nevus,,,,,,, 14656,palmoplantar_keratoderma_nonepidermolytic_focal,,,,,,,, 14657,ichthyosis_cyclic_with_epidermolytic_hyperkeratosis,,,,,,,Q80.3, 14658,ichthyosis_histrix_curth_macklin_palmoplantar_keratoderma_nonepidermolytic,,,,,,,, 14659,plamoplantar_keratoderma_epidermolytic,,,,,,,, 14660,ectodermal_dysplasia_pure_hair_nail_type_2,pure_hair-nail_type_ectodermal_dysplasia,,,,,,, 14661,ichthyosis_with_confetti,ichthyosis_with_confetti,,,,,,, 14662,woolly_hair_autosomal_dominant,woolly_hair_-_autosomal_recessive,,,,,C536745,Q84.1,254231002|52564001 14663,pancreatic_carcinoma_somatic,,,,,,,, 14664,epidermolysis_bullosa_simplex_recessive,,,,,,,Q81.0, 14665,campomelic_dysplasia_with_autosomal_sex_reversal,,,,,,,, 14666,fletcher_factor_deficiency,fletcher_factor,,,,,,D68.8, 14667,amelogenesis_imperfecta_type_iia1,,,,,,C536606,K00.5,109475005 14668,ceroid_lipofuscinosis_neuronal_1_infantile,,,,,,C537948|C537950,E75.4,58258004|62009002 14669,insulin_resistance_severe_digenic,,,,,,,E88.1, 14670,carotid_intimal_medial_thickness_1,,,,,,,, 14671,bare_lymphocyte_syndrome_type_ii_complementation_group_c,,,,,,,, 14672,deafness_autosomal_dominant_8_12,,,,,,,, 14673,deafness_autosomal_recessive_21,,,,,,,, 14674,sveinsson_choreoretinal_atrophy,,,,,,,H31.2, 14675,immunodeficiency_due_to_purine_nucleoside_phosphorylase_deficiency,,,,,,,D81.5,60743005 14676,pyridoxamine_5_phosphate_oxidase_deficiency_2,,,,,,,G40.8, 14677,atrial_septal_defect_4,,,,,,,, 14678,deafness_autosomal_recessive_9,,,,,,,, 14679,auditory_neuropathy_autosomal_recessive_1,,,,,,,, 14680,deafness_autosomal_recessive_22,,,,,,,, 14681,cornea_plana_congenita_recessive,,,,,,,Q13.4, 14682,mental_retardation_x_linked_syndromic_jarid1c_related,,,,,,,, 14683,lysyl_hydroxylase_3_deficiency,,,,,,,, 14684,epidermolysis_bullosa_simplex_with_pyloric_atresia,,,,,,,Q81.0, 14685,thrombophilia_familial_due_to_decreased_release_of_plat,,,,,,,, 14686,hyperfibrinolysis_familial_due_to_increased_release_of_plat,,,,,,,, 14687,spinal_muscular_atrophy_distal_autosomal_recessive_4,,,,,,,G12.2, 14688,adenomas_salivary_gland_pleomorphic,,,,,,,, 14689,infantile_neuroaxonal_dystrophy_1,,,,,,,G23.0,52713000 14690,parkinson_disease_14,,,,,,,G24.1, 14691,psychomotor_disease,,,,,,,, 14692,arrhythmogenic_right_ventricular_dysplasia_familial_9,,,,,,,, 14693,polycystic_kidney_disease_adult_type_i,,,,,,,, 14694,adenosine_triphosphate_elevated_of_erythrocytes,,,,,,,, 14695,colonic_adenoma_recurrence_reduced_risk_of,,,,,,,, 14696,gyrate_atrophy_of_choroid_and_retina_with_or_without_ornithinemia,,,,,,C537132,E72.4,276426004|33985005 14697,pseudohyperkalemia_familial,,,,,,,D58.8, 14698,46xy_partial_gonadal_dysgenesis_with_minifascicular_neuropathy,,,,,,,Q56.1, 14699,mitochondrial_dna_depletion_syndrome_3_hepatocerebral_type,,,,,,,, 14700,spinocerebellar_ataxia_autosomal_recessive_8,,,,,,,G11.2, 14701,mental_retardation_x_linked_with_or_without_epilepsy,,,,,,,, 14702,polyhydramnios_megalencephaly_and_symptomatic_epilepsy,,,,,,,, 14703,deafness_autosomal_recessive_16,,,,,,,, 14704,ichthyosis_with_hypotrichosis,,,,,,,Q80.8, 14705,systemic_lupus_erythematous_association_with_11,,,,,,,, 14706,testicular_tumor_sporadic,,,,,,,C62, 14707,vesicoureteral_reflux_3,,,,,,,, 14708,amyotrophic_lateral_sclerosis_due_to_sod1_deficiency,,,,,,,, 14709,microvascular_complications_of_diabetes_6,,,,,,,, 14710,mental_retardation_anterior_maxillary_protrusion_and_strabismus,,,,,,,, 14711,optic_nerve_hypoplasia_and_abnormalities_of_the_central_nervous_system,,,,,,,, 14712,waardenburg_syndrome_type_2e_with_or_without_neurologic_involvement,,,,,,,, 14713,mental_retardation_x_linked_with_isolated_growth_hormone_deficiency,,,,,,,E23.0, 14714,alzheimer_disease_pathogenesis_association_with,,,,,,,, 14715,uric_acid_concentration_serum_qtl_2,,,,,,,, 14716,glycogen_storage_disease_ic,,,,,,,E74.0, 14717,erythrocyte_lactate_transporter_defect,,,,,G73.6,,, 14718,glut1_deficiency_syndrome_1,,,,,,,G93.4, 14719,glut1_deficiency_syndrome_2,,,,,,,G24.8, 14720,autism_susceptibility_16,,,,,,,, 14721,systemic_lupus_erythematosus_3,,,,,,,, 14722,fanconi_renotubular_syndrome_2,,,,,,,E72.0, 14723,iminoglycinuria_digenic,,,,,,C536285,E72.0,84121007 14724,hyperglycinuria,,,,,,,, 14725,bartter_syndrome_type_1,,,,,,,, 14726,corneal_endothelial_dystrophy_and_perceptive_deafness,,,,,,C535473,H18.5, 14727,corneal_dystrophy_fuchs_endothelial_4,,,,,,,, 14728,renal_tubular_acidosis_distal_ad,,,,,,,N25.8,236461000|86210009 14729,renal_tubular_acidosis_distal_ar,,,,,,,N25.8, 14730,progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_3,,,,,,,, 14731,thyroid_dyshormonogenesis_1,,,,,,,, 14732,systemic_lupus_erythematosus_with_hemolytic_anemia,,,,,,,, 14733,obesity_bmiq11,,,,,,,, 14734,cataract_juvenile_with_microcornea_and_glucosuria,,,,,,,, 14735,chloride_diarrhea_congenital_finnish_type,,,,,,C536210,P78.3,24412005 14736,obsessive_compulsive_disorder_1,,,,,,,, 14737,bile_acid_malabsorption_primary,,,,,,,, 14738,congenital_disorder_of_glycosylation_type_iif,,,,,,,, 14739,micochondrial_phosphate_carrier_deficiency,,,,,,,G71.3, 14740,deafness_autosomal_dominant_25,,,,,,,, 14741,diastrophic_dysplasia_broad_bone_platyspondylic_variant,,,,,,,, 14742,microphthalmia_with_coloboma_3,,,,,,,Q11.2, 14743,microphthalmia_isolated_2,,,,,,,Q11.1|Q11.2|Q11.0, 14744,corneal_dystrophy_hereditary_polymorphous_posterior,,,,,,,H18.5, 14745,cardiomyopathy_familial_hypertrophic_15,,,,,,,, 14746,retinitis_pigmentosa_39,,,,,,,, 14747,deafness_autosomal_recessive_18,,,,,,,, 14748,herpes_simplex_encephalitis_1,,,,,,,B00.4+|G05.1*, 14749,hyperbilirubinemia_familial_transcient_neonatal,,,,,,,P59.3|P59.8, 14750,bilirubin_serum_level_of_qtl1,,,,,,,, 14751,microphthalmia_with_cataract_2,,,,,,,Q15.8, 14752,brachiootic_syndrome_3,,,,,,,Q87.8, 14753,deafness_autosomal_dominant_23,,,,,,,, 14754,autoimmune_disease_6,,,,,,,, 14755,obesity_severe_and_type_ii_diabetes,,,,,,,, 14756,parkinson_disease_5,,,,,,,, 14757,parkinson_disease_resistance_to,,,,,,,, 14758,obesity_bmiq4,,,,,,,, 14759,waardenburg_syndrome_albinism_digenic,,,,,,,, 14760,melanoma_cutaneous_malignant_8,,,,,,,, 14761,mitochondrial_dna_depletion_syndrome_1_mngie_type,,,,,,,E79.8, 14762,mucopolysaccharidisis_type_iiia_sanfilippo_a,,,,,,D009084,E76.2,59990008|88393000 14763,dystonia_11_myoclonic,,,,,,C536096,G24.1|G25.3,439732004 14764,retinitis_pigmentosa_51,,,,,,,, 14765,cardiomyopathy_familial_hypertrophic_9,,,,,,,, 14766,cardiomyopathy_dilated_1g,,,,,,,, 14767,dystransthyretinemic_hyperthyroxinemia,,,,,,,, 14768,carpal_tunnel_syndrome_familial,,,,,,,, 14769,exudative_vitreoretinopathy_5,,,,,,,, 14770,pontocerebellar_hypoplasia_type_2a,,,,,,C548070,Q04.3, 14771,lymphangioleiomyomatosis_somatic,,,,,,,, 14772,focal_cortical_dysplasia_taylor_balloon_cell_type,,,,,,,Q04.8, 14773,sudden_infant_death_with_dysgenesis_of_the_testes_syndrome,,,,,R95,,G90.8, 14774,hyperthyroidism_familial_gestational,,,,,,,E05.8, 14775,pontocerebellar_hypoplasia_type_2c,,,,,,,, 14776,hypothryoidism_congenital_nongoitrous_4,,,,,,,E03.1, 14777,cardiomyopathy_dilated_1gg,,,,,,,, 14778,paragangliomas_familial_nonchromaffin_3,,,,,,,, 14779,paraganglioma_familial_chromaffin_4,,,,,,,C74.1|C75.5|D35.0|D35.6, 14780,paragangliomas_familial_nonchromaffin_1_with_or_without_deafness,,,,,,,, 14781,carcinoid_tumors_intestinal,,,,,,,E34.0, 14782,cleft_palate_and_mental_retardation,,,,,,,, 14783,townes_brocks_branchiootorenal_like_syndrome,,,,,,,, 14784,ventricular_tachycardia_catecholaminergic_polymorphic_1,,,,,,,, 14785,arrhythmogenic_right_ventricular_dysplasia_2,,,,,,,, 14786,mitochondrial_dna_depletion_syndrome_8a_encephalomyopathic_type_with_renal_tubulopathy,,,,,,,, 14787,mitochondrial_dna_depletion_syndrome_8b_mngie_type,,,,,,,, 14788,ectodermal_dysplasia_syndactyly_syndrome_1,,,,,,,, 14789,orofacial_cleft_7,,,,,,,, 14790,mitochondrial_myopathy_and_sideroblastic_anemia_1,,,,,,C536101,G71.3, 14791,corneal_dystrophy_posterior_polymorphous_3,,,,,,,, 14792,corneal_dystrophy_fuchs_endothelial_6,,,,,,,H18.5, 14793,mental_retardation_x_linked_zdhhc9_related,,,,,,,, 14794,robinow_syndrome_autosomal_recessive,,,,,,C535863,Q87.1,76520005 14795,skeletal_defects_genital_hypoplasia_and_mental_retardation,,,,,,,, 14796,metachromatic_leukodystrophy_due_to_sap_b_deficiency,,,,,,C538597|D007966,E75.2,238031009|396338004 14797,gaucher_disease_atypical,,,,,,,E75.2, 14798,krabbe_disease_atypical,,,,,,,, 14799,acne_inversa_familial_2,,,,,,,, 14800,alzheimer_disease_type_3_with_spastic_paraparesis_and_unusual_plaques,,,,,,,, 14801,alzheimer_disease_type_3_with_spastic_paraparesis_and_apraxia,,,,,,,, 14802,acne_inversa_familial_3,,,,,,,, 14803,pseudoxanthoma_elasticum_modifier_of_severity_of,,,,,,,, 14804,leprosy_protection_against,,,,,,,, 14805,leprosy_5,,,,,,,, 14806,atrial_septal_defect_6,,,,,,C548006,Q21.2, 14807,herpes_simplex_encephalitis_2,,,,,,,, 14808,legionaire_disease,legionaires_disease,,,,,,, 14809,systemic_lupus_erythematosus_resistance_to,,,,,,,, 14810,systemic_lupus_erythematosus_1,,,,,,,, 14811,macular_degeneration_age_related_10,,,,,,,, 14812,dejerine_sottas_neuropathy_autosomal_recessive,,,,,,,, 14813,charcot_marie_tooth_disease_type_4f,,,,,,,G60.0, 14814,charcot_marie_tooth_disease_x_linked_recessive_5,,,,,,,G60.0, 14815,deafness_x_linked_1,,,,,,,H90.3, 14816,renal_cell_carcinoma_papillary_1,,,,,,,, 14817,thrombophilia_due_to_protein_s_deficiency,,,,,,,D68.5|D68.8, 14818,macular_dystrophy_patterned,,,,,,,H35.5, 14819,retinitis_pigmentosa_digenic,,,,,,,, 14820,choriodal_dystrophy_central_areolar_2,,,,,,C535358,H31.2, 14821,pigmented_adrenocortical_disease_primary_1,,,,,,,, 14822,thrombophilia_due_to_protein_c_deficiency_autosomal_dominant,,,,,,,D68.2, 14823,thrombophilia_due_to_protein_c_deficiency_autosomal_recessive,,,,,,,, 14824,prion_disease_with_protracted_course,,,,,,,, 14825,cardiomyopathy_hypertrophic_6_with_wpw,,,,,,,, 14826,mitochondrial_dna_depletion_syndrome_2_myopathic_type,,,,,,,, 14827,major_affective_disorder_7,,,,,,,, 14828,pneumococcal_disease_invasive_protection_against,,,,,,,, 14829,malaria_protection_against,,,,,,,, 14830,thyroid_hormone_resistance_autosomal_recessive,,,,,,,, 14831,thyroid_hormone_resistance_selective_pituitary,,,,,,,E05.8, 14832,hemolytic_uremic_syndrome_atypical_6,,,,,,,D58.8, 14833,segawa_syndrome_recessive,,,,,,C538007,G24.8|G24.1, 14834,ulna_and_fibula_absence_of_with_sever_limb_deficiency,,,,,,,Q87.2, 14835,split_hand_foot_malformation_6,,,,,,,Q71.6|Q72.7, 14836,deafness_autosomal_dominant_6_14_38,,,,,,,, 14837,wolfram_like_syndrome_autosomal_dominant,,,,,,,, 14838,diabetes_mellitus_noninsulin_dependent_association_with,,,,,,,, 14839,cystic_fibrosis_lung_disease_modifier_of,,,,,,,, 14840,esophageal_cancer_somatic,,,,,,,, 14841,autoimmune_thyroid_disease_3,,,,,,,, 14842,self_healing_collodion_baby,,,,,,,, 14843,bradyopsia,,,,,,,H53.8, 14844,kininogen_deficiency,,,,,,,D68.8, 14845,thrombocytopenia_x_linked_intermittent,,,,,,,, 14846,hypertension_insulin_resistance_related,,,,,,,, 14847,aids_delayed_rapid_progression_to,,,,,,,, 14848,germ_cell_tumors,germ_cell_tumor,,,,,,, 14849,charcot_marie_tooth_disease_type_2a1,,,,,,,G60.0, 14850,neuroblastoma_1,,,,,,,, 14851,dyslexia_2,,,,,,,, 14852,benign_glioma,,,,,,,, 14853,fibrosis_of_extraocular_muscles_congenital_1,congenital_fibrosis_of_the_extraocular_muscles,,,,,,H49.8, 14854,deafness_autosomal_recessive_24,,,,,,,, 14855,alopecia_neurologic_defects_and_endocrinopathy_syndrome,,,,,,,, 14856,premature_ovarian_failure_2b,,,,,,,, 14857,microvascular_complications_of_diabetes_5,,,,,,,, 14858,obesity_adrenal_insufficiency_and_red_hair_due_to_pomc_deficiency,,,,,,,E66.8, 14859,obesity_early_onset,,,,,,,, 14860,antley_bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis,,,,,,,, 14861,disordered_steroidogenesis_due_to_cytochrome_p450_oxidoreductase,,,,,,,E25.0, 14862,mitochondrial_dna_depletion_syndrome_4b_mngie_type,,,,,,,, 14863,wilms_tumor_susceptibility_5,,,,,,,, 14864,muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_1,,,,,,D058494,G71.2|Q04.3,277950001 14865,muscular_dystrophy_dystroglycanopathy_congenital_with_mental_retardation_type_b_1,,,,,,,, 14866,keratosis_linearis_with_ichthyosis_congenita_and_sclerosing_keratoderma,,,,,,,Q82.8, 14867,muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_2,,,,,,,, 14868,muscular_dystrophy_dystroglycanopathy_congenital_with_mental_retardation_type_b_2,,,,,,,, 14869,deafness_autosomal_dominant_15,,,,,,,, 14870,combined_cellular_and_humoral_immune_defects_with_granulomas,,,,,,,D81.1, 14871,leopard_syndrome_2,,,,,,,, 14872,encephalopathy_acute_necrotizing_1,,,,,,,G31.8, 14873,alpha_beta_t_cell_lymphopenia_with_gamma_delta_t_cell_expansion_severe_cytomegalovirus_infection_and_autoimmunity,,,,,,,D81.8, 14874,parkes_weber_slndrome,,,,,,,Q87.2, 14875,breast_cancer_invasive_ductal,,,,,,,, 14876,myasthenic_syndrome_congenital_associated_with_facial_dysmorphism_and_acetylcholine_receptor_deficiency,,,,,,,, 14877,microphthalmia_isolated_3,,,,,,,, 14878,fanconi_anemia_complementation_group_0,,,,,,,, 14879,breast_ovarian_cancer_familial_3,,,,,,,, 14880,amyloidosis_primary_localized_cutaneous,,,,,,,L99.0*|E85+, 14881,long_qt_syndrome_2_acquired,,,,,,,, 14882,migraine_with_or_without_aura_13,,,,,,,, 14883,hypertension_diastolic_resistance_to,,,,,,,, 14884,seizures_benign_neonatal_1,,,,,,,, 14885,epileptic_encephalopathy_early_infantile_7,,,,,,,, 14886,deafness_autosomal_dominant_2a,,,,,,,, 14887,long_qt_syndrome_1_acquired,,,,,,,, 14888,diabetes_mellitus_permanent_neonatal_with_neurologic_features,,,,,,,, 14889,diabetes_mellitus_transient_neonatal_3,,,,,,,, 14890,thyrotoxic_periodic_paralysis_2,,,,,,,, 14891,bare_lymphocyte_syndrome_type_i_due_to_tap2_deficiency,,,,,,,, 14892,congenital_heart_disease_nonsyndromic_2,,,,,,,Q93.5, 14893,bladder_cancer_susceptibility,,,,,,,, 14894,phenylthiocarbamide_tasting,,,,,,,, 14895,amyotrophic_lateral_sclerosis_10_with_or_without_ftd,,,,,,,, 14896,frontotemporal_lobar_degeneration_tardbp_related,,,,,,,, 14897,left_ventricular_noncompaction_x_linked,,,,,,,, 14898,colorblindness_protan,,,,,,,, 14899,colorblindness_tritan,,,,,,,H53.5,85049009 14900,glaucoma_1_open_angle_e,,,,,,,, 14901,colorblindness_deutan,,,,,,,, 14902,renal_cell_carcinoma_clear_cell_somatic,,,,,,,, 14903,deafness_autosomal_recessive_8_childhood_onset,,,,,,,, 14904,deafness_autosomal_recessive_10_congenital,,,,,,,, 14905,deafness_autosomal_recessive_7,,,,,,,, 14906,deafness_autosomal_dominant_36,,,,,,,, 14907,bardet_biedl_syndrome_14_modifier_of,,,,,,,, 14908,congenital_heart_defects_nonsyndromic_1_x_linked,,,,,,,, 14909,diaphragmatic_hernia_3,,,,,,C538080,Q79.0,17190001 14910,recombination_rate_qtl_1,,,,,,,, 14911,short_rib_polydactyly_syndrome_type_ii_digenic,,,,,,,Q77.2,72922008 14912,myopathy_distal_with_anterior_tibial_onset,,,,,,,G71.0, 14913,dyslexia_1,,,,,,,, 14914,arrhythmogenic_right_ventricular_dysplasia_familial_10,,,,,,,, 14915,hypotrichosis_and_recurrent_skin_vesicles,,,,,,,, 14916,arrhythmogenic_right_ventricular_dysplasia_familial_11,,,,,,,, 14917,deafness_autosomal_dominant_36_with_dentinogenesis,,,,,,,, 14918,keratosis_palmoplantaris_striata_ii,,,,,,,, 14919,arrhythmogenic_right_ventricular_dysplasia_8,,,,,,,, 14920,ciliary_dyskinesia_primary_3_with_or_without_situs_inversus,,,,,,,, 14921,ciliary_dyskinesia_primary_13,,,,,,,J98.0, 14922,charcot_marie_tooth_disease_axonal_type_2m,,,,,,,, 14923,ciliary_dyskinesia_primary_7_with_out_without_situs_inversus,,,,,,,, 14924,ciliary_dyskinesia_primary_9_with_our_without_situs_inversus,,,,,,,, 14925,ciliary_dyskinesia_primary_1_with_our_without_situs_inversus,,,,,,,, 14926,ciliary_dyskinesia_primary_10,,,,,,,, 14927,ventricular_fibrillation_paroxysmal_familial_2,,,,,,,, 14928,congenital_disorder_of_glycosylation_type_ij,,,,,,,, 14929,congenital_disorder_of_glycosylation_type_io,,,,,,,, 14930,congenital_disorder_of_glycosylation_type_im,,,,,,,E77.8, 14931,blepharospasm_primary_benign,,,,,,,G24.5, 14932,left_ventricular_noncompaction_1_with_or_without_congenital_heart_defects,,,,,,,, 14933,thyroid_dyshormonogenesis_5,,,,,,,, 14934,thryoid_dyshormonogenesis_6,,,,,,,, 14935,deafness_autosomal_recessive_6,,,,,,,, 14936,enterokinase_deficiency,,,,,,,K90.8, 14937,acute_liver_failure,acute_liver_failure,,,,,D017114,K72.0,197270009 14938,chronic_end_stage_hepatitis_c,,,,,,,, 14939,human_venous_malformation,,,,,,,, 14940,critical_limb_ischemia,,,,,,,, 14941,chronic_venous_leg_ulcers,,,,,,,, 14942,diabetic_foot_ulcers,,,,,,,, 14943,graft_versus_host_disease,graft-versus-host_disease,,,,,,T86.0,234646005 14944,ischemic_retinopathy,,,,,,,, 14945,osteoporotic_fracture,,,,,,,, 14946,bone_fracture,bone_fracture,,,,,,, 14947,anterior_cruciate_ligament_tears,,,,,,,, 14948,limbal_stem_cell_deficiency,,,,,,,, 14949,multiple_epiphyseal_dysplasia_al_gazali_type,,,,,,,Q77.3, 14950,multiple_epiphyseal_dysplasia_with_miniepiphyses,,,,,,,Q77.3, 14951,multiple_epiphyseal_dysplasia_with_severe_proximal_femoral_dysplasia,,,,,,,Q77.3, 14952,metaphyseal_chondrodysplasia_kaitila_type,,,,,,,, 14953,metaphyseal_chondrodysplasia_retinitis_pigmentosa,,,,,,,, 14954,fastkd2_related_infantile_mitochondrial_encephalomyopathy,,,,,,,, 14955,suarez_stickler_syndrome,,,,,,,, 14956,porokeratotic_eccrine_ostial_and_dermal_duct_nevus,porokeratotic_eccrine_ostial_and_dermal_duct_nevus,,,,,,Q82.5,239118007 14957,benign_non_familial_infantile_seizures,,,,,,,G40.4, 14958,benign_infantile_focal_epilepsy_with_midline_spikes_and_wave_during_sleep,,,,,,,, 14959,benign_infantile_seizures_associated_to_mild_gastroenteritis,,,,,,,, 14960,benign_partial_epilepsy_with_secondarily_generalized_seizures_in_infancy,,,,,,,G40.1, 14961,benign_partial_epilepsy_of_infancy_with_complex_partial_seizures,,,,,,,G40.2, 14962,benign_partial_infantile_seizures,,,,,,,, 14963,orgasm_induced_seizures,,,,,,,, 14964,eating_seizures,,,,,,,,230450001 14965,audiogenic_seizures,,,,,,,, 14966,hot_water_reflex_epilepsy,,,,,,,, 14967,reading_seizures,,,,,,,, 14968,micturation_induced_seizures,,,,,,,, 14969,startle_epilepsy,,,,,,,, 14970,thinking_seizures,,,,,,,, 14971,other_forms_of_non_paraneoplastic_limbic_encephalitis,,,,,,,, 14972,classic_paraneoplastic_limbic_encephalitis,,,,,,,G13.1, 14973,limbic_encephalitis_with_lgi1_antibodies,,,,,,,G13.1, 14974,acrodermatitis_continua_suppurativa_of_hallopeau,,,,,,,, 14975,pustulosis_palmaris_et_plantaris,pustulosis_palmaris_et_plantaris,,,,L40.3,,, 14976,atopic_keratoconjunctivitis,,,,,,,H16.2,403434009 14977,limbic_encephalitis_with_ncmags_antibodies,,,,,,,G13.1, 14978,non_herpetic_acute_limbic_encephalitis,,,,,,,, 14979,post_transplant_acute_limbic_encephalitis,,,,,,,, 14980,x_linked_dominant_chondrodysplasia_chassaing_lacombe_type,,,,,,,, 14981,intellectual_deficit_x_linked_cilliers_type,,,,,,,, 14982,intellectual_deficit_x_linked_van_esch_type,,,,,,,, 14983,intellectual_deficit_x_linked_craniofacioskeletal_syndrome,,,,,,,, 14984,intellectual_deficit_x_linked_nascimento_type,,,,,,,, 14985,intellectual_deficit_x_linked_kroes_type,,,,,,,, 14986,acute_myeloid_leukemia_and_myelodysplastic_syndromes_related_to_radiation,,,,,,,, 14987,x_linked_intellectual_deficit_spastic_quadriparesis,,,,,,,, 14988,developmental_delay_deafness_hildebrand_type,,,,,,,, 14989,familial_mesial_temporal_lobe_epilepsy_with_febrile_seizures,,,,,,,, 14990,wound_myiasis,,,,,B87.1,,B87.1,240880004 14991,cavitary_myiasis,,,,,,,B87.8, 14992,multiple_epiphyseal_dysplasia_lowry_type,,,,,,,Q78.8, 14993,subacute_cutaneous_lupus_erythematosus,subacute_cutaneous_lupus_erythematosus,,,,L93.1,,L93.1,239891002 14994,congenital_nasal_pyriform_aperture_stenosis_with_holoprosencephaly,,,,,,,Q30.8, 14995,isolated_congenital_nasal_pyriform_aperture_stenosis,,,,,,,Q30.8, 14996,isolated_congenital_auditory_ossicle_malformation,,,,,,,Q16.3, 14997,nonacquired_isolated_growth_hormone_deficiency,,,,,,,E23.0, 14998,spondyloepiphyseal_dysplasia_nishimura_type,,,,,,,Q77.7, 14999,spondyloepiphyseal_dysplasia_cantu_type,,,,,,,Q77.7, 15000,spondyloepiphyseal_dysplasia_macdermot_type,,,,,,,Q77.7, 15001,spondyloepiphyseal_dysplasia_reardon_type,,,,,,,Q77.7, 15002,spondyloepiphyseal_dysplasia_tarda_kohn_type,,,,,,,Q77.7, 15003,hb_barts_hydrops_fetalis,,,,,,,D56.0, 15004,benign_familial_mesial_temporal_lobe_epilepsy,,,,,,,, 15005,cryptogenic_late_onset_epileptic_spasms,,,,,,,, 15006,2p21_microdeletion_syndrome,,,,,,,Q93.5, 15007,hypotonia_cystinuria_syndrome_2,,,,,,,, 15008,cap_polyposis,,,,,,,D12.6, 15009,specific_antibody_deficiency_with_normal_immunoglobulin_concentrations_and_normal_numbers_of_b_cells,,,,,,,D80.6, 15010,secondary_central_precocious_puberty,,,,,,,, 15011,idiopathic_central_precocious_puberty,,,,,,,E22.8,237817008 15012,recurrent_neisseria_infections_due_to_factor_d_deficiency,,,,,,,D84.1, 15013,rectal_duplication,,,,,,,Q43.4, 15014,severe_congenital_nemaline_myopathy,,,,,,,G71.2, 15015,intermediate_nemaline_myopathy,,,,,,,G71.2, 15016,typical_nemaline_myopathy,,,,,,,G71.2, 15017,childhood_onset_nemaline_myopathy,,,,,,,G71.2, 15018,adult_onset_nemaline_myopathy,,,,,,,G71.2, 15019,x_linked_spastic_paraplegia_type_34,,,,,,,G11.4, 15020,autosomal_dominant_spastic_paraplegia_type_37,,,,,,,G11.4, 15021,maternally_inherited_cardiomyopathy_and_hearing_loss,,,,,,,I42.8, 15022,autosomal_dominant_spastic_paraplegia_type_38,,,,,,,G11.4, 15023,autosomal_recessive_spastic_paraplegia_type_32,,,,,,,G11.4, 15024,idiopathic_achalasia,,,,,,C536011,K22.0, 15025,distal_trisomy_18q,,,,,,,Q92.3, 15026,clapo_syndrome,,,,,,,Q87.3, 15027,malignant_melanoma_of_the_mucosa,,,,,,,, 15028,distal_trisomy_15q,,,,,,C538036,Q92.3, 15029,combined_immunodeficiency_due_to_cd3gamma_deficiency,,,,,,,D81.2, 15030,primary_peritoneal_carcinoma,primary_peritoneal_carcinoma,,,,,,C48.2, 15031,peritoneal_cystic_mesothelioma,,,,,,,C48.2, 15032,distal_monosomy_9p,,,,,,,Q93.5, 15033,refractory_anemia_with_excess_blasts_in_transformation,refractory_anemia_with_excess_blasts_in_transformation,,,,,,D46.3,110000005|128848007 15034,distal_monosomy_7q36,,,,,,,Q93.5, 15035,myeloid_neoplasm_associated_with_fgfr1_rearrangement,,,,,,,, 15036,myeloid_neoplasm_associated_with_pdgfrb_rearrangement,,,,,,,, 15037,myeloid_neoplasm_associated_with_pdgfra_rearrangement,,,,,,,, 15038,monosomy_18p,,,,,,,Q93.5, 15039,congenital_osteogenesis_imperfecta_microcephaly_cataracts,,,,,,C537558,Q78.0, 15040,large_congenital_melanocytic_nevus,,,,,,,D22, 15041,pentasomy_x,,,,,,C535319,Q97.1,43248007 15042,alopecia_antibody_deficiency,,,,,,,, 15043,lethal_hemolytic_anemia_genital_anomalies,,,,,,,D58.8, 15044,retinitis_pigmentosa_intellectual_deficit_deafness_hypogenitalism,,,,,,,Q87.8, 15045,hereditary_persistence_of_alpha_fetoprotein,,,,,,,, 15046,congenital_deficiency_in_alpha_fetoprotein,,,,,,,, 15047,dysplasia_of_head_of_femur_meyer_type,,,,,,,Q78.8, 15048,autosomal_dominant_coarctation_of_aorta,,,,,,C531623,Q25.1, 15049,cooper_jabs_syndrome,,,,,,,Q87.8, 15050,generalized_basaloid_follicular_hamartoma_syndrome,,,,,,,Q82.5, 15051,hereditary_cryohydrocytosis_with_reduced_stomatin,,,,,,,D58.8, 15052,congenital_cataract_hypertrophic_cardiomyopathy_mitochondrial_myopathy,,,,,,C538280,Q87.8, 15053,platyspondylic_lethal_chondrodysplasia,,,,,,,Q77.8, 15054,arthrogryposis_with_oculomotor_limitation_and_electroretinal_anomalies,,,,,,,Q74.3, 15055,spondyloepimetaphyseal_dysplasia_bieganski_type,,,,,,,Q77.7, 15056,spondyloepimetaphyseal_dysplasia_abnormal_dentition,,,,,,,Q77.7, 15057,arrhinia_choanal_atresia_microphthalmia,,,,,,,Q87.0, 15058,spondylometaphyseal_dysplasia_golden_type,,,,,,,Q77.8, 15059,dandy_walker_facial_hemangioma,,,,,,,Q03.1, 15060,craniosynostosis_dandy_walker_hydrocephalus,,,,,,,Q03.1|Q75.0, 15061,hypogonadism_mitral_valve_prolapse_intellectual_deficit,,,,,,,, 15062,frontal_encephalocele,,,,,Q01.0,,Q01.0,253103006 15063,multicystic_renal_dysplasia,,,,,,D021782,Q61.4,204962002 15064,omphalocele,omphalocele,,,,,,Q79.2, 15065,linear_nevus_sebaceus_syndrome,,,,,,,Q85.8, 15066,tetrasomy_12p,tetrasomy_12p,,,,,,Q99.8,9527009 15067,isolated_pierre_robin_syndrome,,,,,,,Q87.0, 15068,disorder_of_sex_development_intellectual_deficit,,,,,,,Q56.3, 15069,isolated_breast_aplasia,,,,,,,Q83.0, 15070,supernumerary_breasts,extra_breasts,,,,Q83.1,,Q83.1, 15071,larsen_like_osseous_dysplasia_short_stature,,,,,,,Q77.8, 15072,mixed_germ_cell_tumor,,,,,,,,32844007 15073,benign_tumor_of_fallopian_tube,,,,,,,D28.2, 15074,congenital_laryngeal_web,,,,,,,Q31.0,47070001 15075,short_rib_polydactyly_syndrome,short_rib_-_polydactyly_syndrome,,,,,D012779,Q77.2,205484001 15076,phyllode_tumor,,,,,,D003557,D24, 15077,central_bilateral_macrogyria,,,,,,,Q04.8, 15078,giant_adenofibroma_of_the_breast,,,,,,,D24, 15079,congenital_pulmonary_airway_malformation_of_the_lung,,,,,,,Q33.0, 15080,obesity_due_to_leptin_receptor_gene_deficiency,,,,,,,E66.8, 15081,bicervical_bicornuate_uterus_and_blind_hemi_vagina,,,,,,,Q51.1, 15082,didelphys_uterus,uterus_didelphys,,,,,,Q51.1, 15083,pseudo_unicornuate_uterus,,,,,,,Q51.4, 15084,true_unicornuate_uterus,,,,,,,Q51.4, 15085,cordiformis_uterus,,,,,,,Q51.3,14689000 15086,unicervical_bicornuate_uterus,,,,,,,Q51.3, 15087,bicervical_bicornuate_uterus_with_patent_cervix_and_vagina,,,,,,,Q51.1, 15088,uterine_hypoplasia,,,,,,,Q51.8, 15089,total_septate_uterus,,,,,,,Q51.2, 15090,subtotal_septate_uterus,,,,,,,Q51.2, 15091,agenesis_and_aplasia_of_uterine_body,,,,,,,Q51.0, 15092,uterine_cervical_aplasia_and_agenesis,,,,,,,Q51.5, 15093,transverse_vaginal_septum,,,,,,,Q52.1, 15094,septate_vagina,septate_vagina,,,,,,Q52.1,47054003 15095,longitudinal_vaginal_septum,,,,,,,Q52.1, 15096,familial_juvenile_hypertrophy_of_the_breast,,,,,,,N62, 15097,familial_scheuermann_disease,,,,,,,M42.0, 15098,schizophrenia_intellectual_deficit_deafness_retinitis,,,,,,,, 15099,multiple_sclerosis_ichthyosis_factor_viii_deficiency,,,,,,,, 15100,stormorken_sjaastad_langslet_syndrome,,,,,,,D69.8, 15101,chondrodysplasia_disorder_of_sex_development,,,,,,,Q87.1, 15102,autosomal_dominant_nonsyndromic_intellectual_deficit,,,,,,,, 15103,hemorrhagic_disease_due_to_alpha_1_antitrypsin_pittsburgh_mutation,,,,,,,, 15104,osteosclerosis_developmental_delay_craniosynostosis,,,,,,,Q75.8, 15105,primary_cutaneous_diffuse_large_b_cell_lymphoma_leg_type,,,,,,,C83.3, 15106,primary_cutaneous_follicle_center_lymphoma,,,,,,,C82.6, 15107,primary_cutaneous_marginal_zone_b_cell_lymphoma,,,,,,D018442,,404140004|420028002 15108,primary_cutaneous_gamma_delta_positive_t_cell_lymphoma,,,,,,,C84.4, 15109,primary_cutaneous_aggressive_epidermotropic_cd8_t_cell_lymphoma,,,,,,,C84.4, 15110,primary_cutaneous_cd4_small_medium_sized_pleomorphic_t_cell_lymphoma,,,,,,,C84.4, 15111,localized_pagetoid_reticulosis,,,,,,D056267,C84.0,404120006 15112,folliculotropic_mycosis_fungoides,,,,,,,C84.0, 15113,brain_calcification_rajab_type,,,,,,,, 15114,myopic_macular_degeneration,,,,,,,H35.3,312898002 15115,adult_intestinal_botulism,,,,,,,A05.1, 15116,prader_willi_syndrome_due_to_paternal_deletion_of_15q11q13_type_1,,,,,,,Q87.1, 15117,prader_willi_syndrome_due_to_paternal_deletion_of_15q11q13_type_2,,,,,,,Q87.1, 15118,prader_willi_syndrome_due_to_translocation,,,,,,,Q87.1, 15119,prader_willi_syndrome_due_to_imprinting_mutation,,,,,,,Q87.1, 15120,undifferentiated_embryonal_sarcoma_of_the_liver,,,,,,,, 15121,antenatal_multiminicore_disease_with_arthrogryposis_multiplex_congenita,,,,,,,G71.2, 15122,isolated_sternocostoclavicular_hyperostosis,,,,,,,, 15123,peripheral_precocious_puberty,,,,,,,E30.1, 15124,familial_long_qt_syndrome,,,,,,,I45.8, 15125,transient_congenital_hypothyroidism,,,,,,,P72.2, 15126,osteochondritis_of_tarsal_metatarsal_bone,,,,,,,M93.2, 15127,primary_pulmonary_lymphoma,,,,,,,C85.9, 15128,microcephaly_polymicrogyria_corpus_callosum_agenesis,,,,,,,Q04.3, 15129,cutis_laxa_marfanoid_syndrome,,,,,,,, 15130,corneal_lesions_with_associated_corneal_stem_cell_deficiency_due_to_ocular_burns,,,,,,,, 15131,idiopathic_bilateral_vestibulopathy,,,,,,,, 15132,intellectual_deficit_cataracts_kyphosis,,,,,,,, 15133,exstrophy_epispadias_complex,,,,,,,Q64.1, 15134,myopathy_with_hexagonally_cross_linked_tubular_arrays,,,,,,,, 15135,salmonellosis,salmonellosis,,,,,,A01|A02, 15136,cylindrical_spirals_myopathy,,,,,,,, 15137,amelogenesis_imperfecta_and_gingival_hyperplasia_syndrome,,,,,,,K00.5, 15138,6q16_deletion_syndrome,,,,,,,Q93.5, 15139,blindness_scoliosis_arachnodactyly,,,,,,,, 15140,craniosynostosis_hydrocephalus_chiari_i_malformation_radioulnar_synostosis,,,,,,,Q87.8, 15141,mednik_syndrome,,,,,,,, 15142,familial_chondromalacia_patellae,,,,,M22.2,,M22.4, 15143,paroxysmal_dyskinesia,paroxysmal_dyskinesia,,,,,D002819,G24.8, 15144,congenital_herpes_virus_infection,,,,,,,P35.2, 15145,isolated_autosomal_dominant_hypomagnesemia_glaudemans_type,,,,,,,E83.4, 15146,congenital_myopathy_paradas_type,,,,,,,G71.2, 15147,isolated_cerebellar_vermis_hypoplasia,,,,,,,Q04.3, 15148,congenital_microgastria,,,,,,,Q40.2,83714006 15149,familial_angiolipomatosis,,,,,,,, 15150,calcified_aponeurotic_fibroma,,,,,,,M72.8, 15151,familial_clubfoot_with_or_without_associated_lower_limb_anomalies,,,,,,,Q66.8, 15152,tetragametic_chimerism,tetragametic_chimerism,,,,,,Q99.0, 15153,ramsay_hunt_syndrome,,,,,,C535287,G11.1, 15154,late_onset_isolated_acth_deficiency,,,,,,,E23.6, 15155,congenital_primary_lymphedema,,,,,,,Q82.0, 15156,pulmonary_capillary_hemangiomatosis,pulmonary_capillary_hemangiomatosis,,,,,C535861,D18.0,233949008 15157,subacute_sclerosing_leukoencephalitis,,,,,,,A81.1, 15158,asbestos_intoxication,,,,,,,J61, 15159,recurrent_infections_associated_with_rare_immunoglobulin_isotypes_deficiency,,,,,,,, 15160,pyogenic_bacterial_infections_due_to_myd88_deficiency,,,,,,,D84.8, 15161,idiopathic_facial_palsy,,,,,,,G51.0, 15162,atrial_tachyarrhythmia_with_short_pr_interval,,,,,,,I45.6, 15163,monosomy_21,,,,,,,Q93.0, 15164,genetic_hair_anomaly,,,,,,,, 15165,genetic_urticaria,,,,,,,, 15166,uveal_coloboma_cleft_lip_and_palate_intellectual_deficit,,,,,,,Q12.2, 15167,atrial_stand_still,,,,,,,I45.5, 15168,distal_monosomy_17q,,,,,,,Q93.5, 15169,distal_monosomy_13q,,,,,,,Q93.5, 15170,monosomy_13q14,,,,,,,Q93.5, 15171,3q13_microdeletion_syndrome,,,,,,C536808,Q93.5, 15172,distal_monosomy_3p,,,,,,,Q93.5, 15173,xp223_microdeletion_syndrome,,,,,,,Q99.8, 15174,distal_monosomy_5q,,,,,,,Q93.5, 15175,non_distal_trisomy_10q,,,,,,,Q92.3, 15176,isolated_anorectal_malformation,,,,,,,Q42.0|Q42.1|Q42.2|Q42.3, 15177,non_distal_monosomy_10q,,,,,,,Q93.5, 15178,distal_monosomy_10p,,,,,,,Q93.5, 15179,myopathy_growth_delay_intellectual_deficit_hypospadias,,,,,,,G71.8, 15180,mosaic_trisomy_17,,,,,,,Q92.1, 15181,mosaic_trisomy_1,,,,,,,Q92.1, 15182,mosaic_trisomy_12,,,,,,,Q92.1, 15183,mosaic_trisomy_15,,,,,,C538037,Q92.1, 15184,3_hydroxyisobutyric_aciduria,3_hydroxyisobutyric_aciduria,,,,,C535312,E71.1,237957007 15185,acro_renal_mandibular_syndrome,,,,,,,Q87.8, 15186,acro_pectoro_renal_dysplasia,,,,,,,Q87.8, 15187,acromesomelic_dysplasia_brahimi_bacha_type,,,,,,,Q77.8, 15188,non_distal_trisomy_13q,,,,,,,Q92.3, 15189,distal_trisomy_14q,,,,,,C538034,Q92.3, 15190,17p112_microduplication_syndrome,,,,,,C536578,Q92.3, 15191,distal_trisomy_6p,,,,,,,Q92.3, 15192,amelo_cerebro_hypohidrotic_syndrome,amelo-cerebro-hypohidrotic_syndrome,,,,,,G40.8, 15193,mitochondrial_myopathy_lactic_acidosis_deafness,,,,,,C537476,G71.3, 15194,thumb_stiffness_brachydactyly_intellectual_deficit,,,,,,,, 15195,aniridia_intellectual_deficit_syndrome,,,,,,,, 15196,aniridia_ptosis_intellectual_deficit_familial_obesity,,,,,,,, 15197,aprosencephaly_cerebellar_dysgenesis,,,,,,,Q04.3, 15198,ocular_motor_apraxia_cogan_type,,,,,,,H51.8, 15199,radial_deficiency_tibial_hypoplasia,,,,,,,Q73.8, 15200,aortic_arch_anomaly_peculiar_facies_intellectual_deficit,,,,,,C537785,Q87.8, 15201,aphalangy_syndactyly_microcephaly,,,,,,,Q87.2, 15202,aphalangy_hemivertebrae_urogenital_intestinal_dysgenesis,,,,,,,Q87.8, 15203,microphthalmia_with_limb_anomalies,,,,,,,Q11.2|Q87.2, 15204,anonychia_microcephaly,,,,,,,, 15205,agnathia_holoprosencephaly_situs_inversus,,,,,,,Q87.8, 15206,hypoglossia_hypodactyly,,,,,,,Q87.2, 15207,acrorenal_syndrome,,,,,,,Q87.2, 15208,congenital_absence_hypoplasia_of_fingers_excluding_thumb_unilateral,,,,,,,Q71.3, 15209,acromegaly_cutis_verticis_gyrata_corneal_leukoma,,,,,,,Q82.8, 15210,acromegaloid_facies_hypertrichosis,,,,,,,Q87.0, 15211,congenital_panfollicular_nevus,,,,,,,, 15212,acute_transverse_myelitis,,,,,,,G37.3,47000000 15213,secondary_acute_transverse_myelitis,,,,,,,G37.3, 15214,idiopathic_acute_transverse_myelitis,,,,,,,G37.3, 15215,perioral_myoclonia_with_absences,,,,,,,, 15216,jeavons_syndrome,jeavons_syndrome,,,,,,, 15217,encephalopathy_due_to_beta_mercaptolactate_cysteine_disulfiduria,,,,,,,E72.1, 15218,amaurosis_hypertrichosis,,,,,,C536604,, 15219,congenital_generalized_hypertrichosis_ambras_type,,,,,,C536605,Q84.2, 15220,drug_rash_with_eosinophilia_and_systemic_symptoms,drug_rash_with_eosinophilia_and_systemic_symptoms,,,,,,, 15221,autosomal_recessive_amelia,,,,,,,Q73.0, 15222,alopecia_epilepsy_pyorrhea_intellectual_deficit,,,,,,,, 15223,autosomal_dominant_palmoplantar_keratoderma_and_congenital_alopecia,,,,,,,Q82.8, 15224,alopecia_hypogonadism_extrapyramidal_disorder,,,,,,C537053,, 15225,alopecia_intellectual_deficit_hypergonadotropic_hypogonadism,,,,,,,, 15226,alopecia_contractures_dwarfism_intellectual_deficit,,,,,,C537051,Q87.8, 15227,maxillo_nasal_dysplasia,maxillonasal_dysplasia,,,,,,Q75.8, 15228,bonnemann_meinecke_reich_syndrome,,,,,,,Q04.8, 15229,intellectual_deficit_athetosis_microphthalmia,,,,,,,, 15230,intractable_diarrhea_choanal_atresia_eye_anomalies,,,,,,,, 15231,cardiac_anomalies_heterotaxy,,,,,,,Q28.8, 15232,microcephaly_intellectual_deficit_phalangeal_and_neurological_anomalies,,,,,,,, 15233,microcephaly_digital_anomalies_intellectual_deficit,,,,,,,, 15234,branchio_skeleto_genital_syndrome,,,,,,,Q87.8, 15235,overgrowth_macrocephaly_facial_dysmorphism,,,,,,,, 15236,brachytelephalangy_dysmorphism_kallmann_syndrome,,,,,,,, 15237,lung_fibrosis_immunodeficiency_46xx_gonadal_dysgenesis,,,,,,,D82.8, 15238,neonatal_hypoxic_and_ischemic_brain_injury,,,,,,,, 15239,brachydactyly_arterial_hypertension,,,,,,,I10, 15240,vulvar_intraepithelial_neoplasia,vulvar_intraepithelial_neoplasia,,,,,,, 15241,herpes_simplex_virus_keratitis,,,,,,,B00.5+|H19.1*, 15242,dermato_cardio_skeletal_syndrome_borrone_type,,,,,,,Q87.8, 15243,infectious_epithelial_keratitis,,,,,,,, 15244,neurotrophic_keratopathy,,,,,,,, 15245,brachydactyly_preaxial_hallux_varus,,,,,,,Q73.8, 15246,stromal_keratitis,,,,,,,,1763009 15247,endotheliitis,endotheliitis,,,,,,, 15248,congenital_unilateral_hypoplasia_of_depressor_anguli_oris,,,,,,,Q87.0, 15249,rare_endometriosis,,,,,,,N80, 15250,macular_amyloidosis,macular_amyloidosis,,,,,,E85.4+|L99.0*, 15251,ataxia_tapetoretinal_degeneration,,,,,,,, 15252,x_linked_progressive_cerebellar_ataxia,,,,,,,G11.1, 15253,ataxia_hypogonadism_choroidal_dystrophy,,,,,,,G11.8, 15254,benign_paroxysmal_tonic_upgaze_of_childhood_with_ataxia,,,,,,,, 15255,laminopathy_type_decaudain_vigouroux,,,,,,,E78.4|E13, 15256,x_linked_mandibulofacial_dysostosis,,,,,,,Q75.4, 15257,cytomegalovirus_disease_in_patients_with_impaired_cell_mediated_immunity_deemed_at_risk,,,,,,,, 15258,idiopathic_short_stature,idiopathic_short_stature,,,,,,E34.3, 15259,nodular_cutaneous_amyloidosis,,,,,,,E85.4+|L99.0*, 15260,atrichia_mental_and_growth_delay,,,,,,,, 15261,autosomal_dominant_optic_atrophy_plus_syndrome,,,,,,,H47.2|H90.3, 15262,autosomal_dominant_congenital_benign_spinal_muscular_atrophy,,,,,,,G12.2, 15263,ataxia_photosensitivity_short_stature,,,,,,,, 15264,spastic_ataxia_with_congenital_miosis,,,,,,,G11.8, 15265,syndromic_optic_nerve_hypoplasia,,,,,,,, 15266,autism_facial_port_wine_stain,,,,,,,, 15267,unilateral_choanal_atresia,,,,,,,Q30.0, 15268,bilateral_choanal_atresia,,,,,Q30.0,,Q30.0, 15269,cervicofacial_lymphatic_malformation,,,,,,,D18.1, 15270,primary_laryngeal_lymphangioma,,,,,,,, 15271,neonatal_brainstem_dysfunction,,,,,,,, 15272,congenital_laryngeal_palsy,,,,,,,J38.0, 15273,laryngotracheal_angioma,,,,,,,D18.0, 15274,paramedian_nasal_cleft,,,,,,,Q18.8, 15275,median_cleft_of_the_upper_lip_and_maxilla,,,,,,,Q18.8, 15276,tessier_number_5_facial_cleft,,,,,,,Q18.8, 15277,tessier_number_4_facial_cleft,,,,,,,Q18.8, 15278,cerebrofacial_arteriovenous_metameric_syndrome_type_3,,,,,,,Q28.2, 15279,cerebrofacial_arteriovenous_metameric_syndrome_type_1,,,,,,,Q28.2, 15280,rapidly_involuting_congenital_hemangioma,rapidly_involuting_congenital_hemangioma,,,,,,D18.0,400162006 15281,nasal_dorsum_fistula_cyst,,,,,,,Q18.8, 15282,skeletal_dysplasia_intellectual_deficit,,,,,,,Q87.5, 15283,congenital_syngnathia,,,,,,,Q67.4, 15284,diffuse_lymphatic_malformation,,,,,,,D18.1, 15285,submucosal_cleft_palate,,,,,,,Q35.9, 15286,commissural_facial_cleft,,,,,Q18.4,,Q18.4, 15287,tessier_number_6_facial_cleft,,,,,,,Q18.8, 15288,midline_cervical_cleft,midline_cervical_cleft,,,,,,Q18.8,403557001 15289,hair_defect_photosensitivity_intellectual_deficit,,,,,,,, 15290,polyrrhinia,,,,,,,Q30.8, 15291,nasolacrimal_duct_cyst,nasolacrimal_duct_cyst,,,,,,H04.6, 15292,proboscis_lateralis,,,,,,,Q30.8, 15293,supernumerary_nostril,,,,,,,Q30.8, 15294,nasopharyngeal_teratoma,,,,,,,D10.6, 15295,nasal_dermoid_cyst,,,,,,,Q18.8, 15296,nasal_ganglioglioma,,,,,,,, 15297,nasal_glial_heterotopia,nasal_glial_heterotopia,,,,,,, 15298,facial_dermoid_cyst,,,,,,,Q18.8, 15299,lower_lip_fistula,,,,,,,Q38.0, 15300,cerebro_reno_digital_syndrome,,,,,,,Q87.8, 15301,commissural_lip_fistula,,,,,,,Q38.0, 15302,digestive_duplication_cyst_of_the_tongue,,,,,,,Q38.3, 15303,cervicofacial_fibrochondroma,,,,,,,, 15304,isolated_cerebellar_hypoplasia_agenesis,,,,,,,Q04.3, 15305,epignathus,,,,,,,D10.5,31248004 15306,external_auditory_canal_aplasia_hypoplasia,,,,,,,Q16.1, 15307,isolated_congenital_hypoglossia_aglossia,,,,,,,Q38.3, 15308,glossopalatine_ankylosis,,,,,,,, 15309,frontonasal_arteriovenous_malformation,,,,,,,Q27.3, 15310,maxillary_arteriovenous_malformation,,,,,,,Q27.3, 15311,mandibular_arteriovenous_malformation,,,,,,,Q27.3, 15312,nasal_encephalocele,,,,,,,Q01.1,65455002 15313,congenital_subglottic_stenosis,,,,,Q31.1,,Q31.1,204552001 15314,congenital_laryngeal_cyst,,,,,,,Q31.8, 15315,hemifacial_hypertrophy,hemifacial_hypertrophy,,,,,,Q67.4, 15316,cataract_hypertrichosis_intellectual_deficit,,,,,,,Q87.8, 15317,cataract_aberrant_oral_frenula_growth_delay,,,,,,,Q87.8, 15318,autosomal_recessive_palmoplantar_keratoderma_and_congenital_alopecia,,,,,,C535336,Q82.8|Q84.0, 15319,congenital_pseudoarthrosis_of_the_leg,,,,,,,Q74.2, 15320,night_blindness_skeletal_anomalies_dysmorphism,,,,,,,Q87.8, 15321,hyperplastic_polyposis_syndrome,,,,,,,D12.6, 15322,cortical_blindness_intellectual_deficit_polydactyly,,,,,,,, 15323,epithelioid_hemangioendothelioma,epithelioid_hemangioendothelioma,,,,,D018323,D18.0,403981003|84290008 15324,hypospadias_hypertelorism_coloboma_and_deafness,,,,,,,Q87.0, 15325,cataract_intellectual_deficit_anal_atresia_urinary_defects,,,,,,,Q87.8, 15326,cataract_nephropathy_encephalopathy,,,,,,,Q87.8, 15327,lipoatrophy_with_diabetes_leukomelanodermic_papules_liver_steatosis_and_hypertrophic_cardiomyopathy,,,,,,,, 15328,infantile_choroido_cerebral_calcification_syndrome,,,,,,,, 15329,heart_defect_round_face_congenital_developmental_delay,,,,,,,Q87.8, 15330,atrioventricular_defect_blepharophimosis_radial_defects,,,,,,,Q87.8, 15331,heart_hand_syndrome_type_3,,,,,,,Q87.2, 15332,hyperkeratosis_hyperpigmentation_syndrome,hyperkeratosis-hyperpigmentation_syndrome,,,,,,L81.8|Q82.8, 15333,distichiasis_congenital_heart_defects_peripheral_vascular_anomalies,,,,,,,Q87.8, 15334,arterial_dissection_lentiginosis,,,,,,,Q87.8, 15335,fibular_dimelia_diplopodia,,,,,,,Q74.8, 15336,45x_46xy_mixed_gonadal_dysgenesis,,,,,,,Q98.7, 15337,leukoencephalopathy_with_bilateral_anterior_temporal_lobe_cysts,,,,,,,E75.2, 15338,progressive_cavitating_leukoencephalopathy,,,,,,,E75.2, 15339,infantile_thalamic_degenerescence,,,,,,,G31.0, 15340,distal_monosomy_15q,,,,,,,Q93.5, 15341,17q112_microduplication_syndrome,,,,,,,Q92.3, 15342,dennis_cohen_syndrome,,,,,,,, 15343,neuropathy_with_hearing_impairment,,,,,,,G60.0|H90.5, 15344,distal_hereditary_motor_neuropathy_type_1,,,,,,,G12.2, 15345,distal_spinal_muscular_atrophy_type_3,,,,,,,G12.2, 15346,x_linked_corneal_dermoid,,,,,,,Q13.4, 15347,hereditary_sensory_and_autonomic_neuropathy_with_deafness_and_global_delay,,,,,,,G60.8, 15348,hereditary_sensory_and_autonomic_neuropathy_type_1b,,,,,,,G60.8, 15349,x_linked_hereditary_sensory_and_autonomic_neuropathy_with_deafness,,,,,,,G60.8, 15350,hyperlipidemia_due_to_hepatic_triglyceride_lipase_deficiency,,,,,,,E78.4, 15351,craniosynostosis_dysmorphism_brachydactyly,,,,,,,Q87.0, 15352,craniosynostosis_fibular_aplasia,,,,,,,Q87.0, 15353,lopez_hernandez_syndrome,,,,,,,Q07.8, 15354,low_flow_priapism,,,,,,,, 15355,short_stature_due_to_primary_acid_labile_subunit_deficiency,,,,,,,E34.3, 15356,linear_atrophoderma_of_moulin,,,,,,,,403395007 15357,palmoplantar_keratoderma_nagashima_type,,,,,,,Q82.8, 15358,cutis_verticis_gyrata_intellectual_deficit,,,,,,,, 15359,cervical_dermoid_cyst,,,,,,,Q18.8, 15360,fourth_branchial_cleft_anomaly,,,,,,,Q18.0, 15361,third_branchial_cleft_anomaly,,,,,,,Q18.0, 15362,lipodystrophy_due_to_peptidic_growth_factors_deficiency,,,,,E88.1,,E88.1, 15363,second_branchial_cleft_anomaly,,,,,,,Q18.0, 15364,first_branchial_cleft_anomaly,,,,,,,Q18.0, 15365,intellectual_deficit_x_linked_dandy_walker_malformation_basal_ganglia_disease_seizures,,,,,,,Q23.8, 15366,primary_intraosseous_vascular_malformation,,,,,,,D18.0, 15367,intellectual_deficit_hypoplastic_corpus_callosum_preauricular_tag,,,,,,,Q87.8, 15368,thin_ribs_tubular_bones_dysmorphism,,,,,,,Q87.5, 15369,craniodigital_syndrome_intellectual_deficit,,,,,,,Q87.0, 15370,flat_face_microstomia_ear_anomaly,,,,,,,Q87.0, 15371,facial_dysmorphism_macrocephaly_myopia_dandy_walker_malformation,,,,,,,Q87.8, 15372,autosomal_recessive_facio_digito_genital_syndrome,,,,,,,Q87.8, 15373,diabetic_embryopathy,,,,,,,P00.8, 15374,methimazole_embryofetopathy,,,,,,,Q86.8, 15375,cocaine_embryofetopathy,,,,,,,Q86.8, 15376,diethylstilbestrol_syndrome,diethylstilbestrol,,,,,,Q86.8, 15377,fetal_cytomegalovirus_syndrome,fetal_cytomegalovirus_syndrome,,,,,,P35.1,276701009 15378,embryofetopathy_due_to_oral_anticoagulant_therapy,,,,,,,Q86.2, 15379,aminopterin_methotrexate_embryofetopathy,,,,,,,Q86.8, 15380,indomethacin_embryofetopathy,,,,,,,Q86.8, 15381,intellectual_deficit_spasticity_ectrodactyly,,,,,,,, 15382,ectodermal_dysplasia_sensorineural_deafness,,,,,,,, 15383,bullous_dystrophy_macular_type,,,,,,,Q81.8, 15384,skeletal_dysplasia_epilepsy_short_stature,,,,,,,Q87.5, 15385,ectodermal_dysplasia_intellectual_deficit_central_nervous_system_malformation,,,,,,,, 15386,hemihypertrophy,hemihypertrophy,,,,,,Q87.3, 15387,hernandez_aguirre_negrete_syndrome,,,,,,C538112,Q87.0, 15388,hall_riggs_syndrome,,,,,,,Q87.0, 15389,hallermann_streiff_like_syndrome,,,,,,,Q87.0, 15390,follicular_hamartoma_alopecia_cystic_fibrosis,,,,,,C537071,, 15391,short_stature_craniofacial_anomalies_genital_hypoplasia,,,,,,,Q87.8, 15392,hartsfield_bixler_demyer_syndrome,,,,,,,, 15393,heckenlively_syndrome,,,,,,,, 15394,benign_cephalic_histiocytosis,benign_cephalic_histiocytosis,,,,,,D76.3,255192005 15395,generalized_eruptive_histiocytosis,generalized_eruptive_histiocytosis,,,,,,D76.3, 15396,glomerulonephritis_sparse_hair_telangiectasis,,,,,,C536825,, 15397,papular_xanthoma,papular_xanthoma,,,,,,D76.3, 15398,xanthoma_disseminatum,xanthoma_disseminatum,,,,,,D76.3,399970005 15399,hereditary_progressive_mucinous_histiocytosis,hereditary_progressive_mucinous_histiocytosis,,,,,,D76.3, 15400,progressive_nodular_histiocytosis,progressive_nodular_histiocytosis,,,,,,D76.3, 15401,indeterminate_cell_histiocytosis,indeterminate_cell_histiocytosis,,,,,,D76.3, 15402,dysmorphism_pectus_carinatum_joint_laxity,,,,,,,Q87.8, 15403,trigeminal_autonomic_cephalalgia,,,,,,D051303,G44.8, 15404,craniorhiny,,,,,,,Q30.8, 15405,huntington_disease_like_3,,,,,,,, 15406,growth_deficiency_brachydactyly_dysmorphism,,,,,,,Q87.0, 15407,splenogonadal_fusion_limb_defects_micrognathia,,,,,,,Q87.8, 15408,posterior_fusion_of_lumbosacral_vertebrae_blepharoptosis,,,,,,C536344,, 15409,hypertrichosis_with_acromegaloid_facial_appearence,,,,,L68|L68.9,,L68.8, 15410,gingival_fibromatosis_facial_dysmorphism,,,,,,,, 15411,classic_mast_cell_leukemia,,,,,,,, 15412,femur_fibula_ulna_complex,femur_fibula_ulna_syndrome,,,,,C537918,Q72.8, 15413,aleukemic_mast_cell_leukemia,,,,,,,, 15414,paraplegia_intellectual_deficit_hyperkeratosis,,,,,,,G82.1, 15415,hepatic_fibrosis_renal_cysts_intellectual_deficit,,,,,,,, 15416,tracheo_esophageal_fistula_hypospadias,,,,,,,, 15417,median_cleft_lip_mandibule,,,,,,,Q36.1, 15418,plaque_form_urticaria_pigmentosa,,,,,,,, 15419,typical_urticaria_pigmentosa,,,,,,,, 15420,alar_cartilages_hypoplasia_coloboma_telecanthus,,,,,,,Q75.8, 15421,cleft_lip_palate_deafness_sacral_lipoma,,,,,,,, 15422,laryngo_tracheo_esophageal_cleft,,,,,,,Q32.1, 15423,cleft_lip_palate_intestinal_malrotation_cardiopathy,,,,,,,Q87.8, 15424,dystrophic_epidermolysis_bullosa_nails_only,,,,,,,Q81.2, 15425,acral_dystrophic_epidermolysis_bullosa,,,,,,,Q81.2, 15426,lymphoadenopathic_mastocytosis_with_eosinophilia,,,,,,,, 15427,isolated_bone_marrow_mastocytosis,,,,,,,, 15428,smouldering_systemic_mastocytosis,,,,,,,, 15429,nodular_urticaria_pigmentosa,,,,,,,, 15430,acro_cardio_facial_syndrome,,,,,,,Q87.8, 15431,femoral_agenesis_hypoplasia,,,,,,,Q72.4, 15432,blepharo_cheilo_odontic_syndrome,,,,,,,Q87.8, 15433,cleft_lip_retinopathy,,,,,,,Q87.8, 15434,classic_mayer_rokitansky_kuster_hauser_syndrome,,,,,,,Q51.8, 15435,schilbach_rott_syndrome,,,,,,,Q87.0, 15436,fth1_related_iron_overload,,,,,,,E83.1, 15437,autosomal_recessive_ataxia_due_to_pex10_deficiency,,,,,,,, 15438,idiopathic_eosinophilic_myositis,,,,,,,, 15439,inflammatory_myopathy_with_abundant_macrophages,,,,,G72.4,,, 15440,x_linked_cerebellar_ataxia,,,,,,,, 15441,lipoblastoma,lipoblastoma,,,,,,,400102008 15442,kenny_caffey_syndrome,,,,,,C537020,Q87.1,82837002 15443,prenatal_benign_hypophosphatasia,,,,,,,E83.3, 15444,autosomal_recessive_secondary_polycythemia_not_associated_with_vhl_gene,,,,,,,D75.1, 15445,epidermolysis_bullosa_simplex_with_anodontia_hypodontia,,,,,Q81.0,,K00.0|Q81.0, 15446,thickened_earlobes_conductive_deafness,,,,,,,, 15447,hypergonadotropic_hypogonadism_cataract_syndrome,,,,,,,, 15448,nasopalpebral_lipoma_coloboma_telecanthus,,,,,,,Q10.3, 15449,hemolytic_anemia_due_to_glyceraldehyde_3_phosphate_dehydrogenase_deficiency,,,,,,,D55.2, 15450,isolated_delta_storage_pool_disease,,,,,,,D69.1, 15451,early_onset_parkinsonism_intellectual_deficit,,,,,,,, 15452,lichstenstein_syndrome,,,,,,,, 15453,oligoarticular_juvenile_arthritis_with_anti_nuclear_antibodies,,,,,,,M08.4, 15454,ectodermal_dysplasia_cutaneous_syndactyly_syndrome,,,,,,,, 15455,juvenile_rheumatoid_factor_negative_polyarthritis_without_anti_nuclear_antibodies,,,,,,,M08.3, 15456,oligoarticular_juvenile_arthritis_without_anti_nuclear_antibodies,,,,,,,M08.4, 15457,laryngeal_abductor_paralysis_intellectual_deficit,,,,,,,, 15458,juvenile_rheumatoid_factor_negative_polyarthritis_with_anti_nuclear_antibodies,,,,,,,M08.3, 15459,familial_supernumerary_nipples,,,,,,,Q83.3, 15460,biliary_atresia_with_splenic_malformation_syndrome,,,,,,,, 15461,hypomelanotic_and_hypermelanotic_cutaneous_macules_retarded_growth_intellectual_deficiency,,,,,,,, 15462,macrocephaly_spastic_paraplegia_dysmorphism,,,,,,,Q87.0, 15463,upper_limb_defect_eye_and_ear_abnormalities,,,,,,,Q87.8, 15464,hyperphosphatasia_intellectual_deficiency_syndrome,,,,,,,, 15465,inhalational_anthrax,,,,,,,A22.1, 15466,lower_limb_deficiency_hypospadias,,,,,,,, 15467,superficial_siderosis,superficial_siderosis,,,,,,, 15468,sporadic_adult_onset_ataxia_of_unknown_etiology,,,,,,,, 15469,progressive_cerebello_cerebral_atrophy,,,,,,,, 15470,neurocutaneous_melanocytosis,,,,,,C537387,D22, 15471,infantile_mercury_poisoning,,,,,,,T56.1, 15472,megalocornea_intellectual_deficit_syndrome,,,,,,,Q87.8, 15473,mclain_dekaban_syndrome,,,,,,,, 15474,marfanoid_syndrome_de_silva_type,,,,,,,, 15475,marfanoid_habitus_intellectual_deficit_autosomal_recessive,,,,,,,Q87.8, 15476,low_grade_ependymoma,,,,,,,, 15477,hydrocephalus_blue_sclerae_nephropathy,,,,,,,, 15478,angiocentric_glioma,,,,,,,, 15479,congenital_hydronephrosis,,,,,,,Q62.0,16297002 15480,hirsutism_skeletal_dysplasia_intellectual_deficit,,,,,,,Q87.5, 15481,holoprosencephaly_postaxial_polydactyly,,,,,,,Q87.8, 15482,holzgreve_wagner_rehder_syndrome,,,,,,C535327,Q87.8, 15483,pituicytoma,pituicytoma,,,,,,, 15484,extraventricular_neurocytoma,,,,,,,, 15485,hypertrichosis_cubiti_short_stature,,,,,,,, 15486,pineal_parenchymal_tumor_of_intermediate_differenciation,,,,,,,, 15487,corneal_anesthesia_deafness_intellectual_deficit,,,,,,,Q87.0, 15488,desmoplastic_infantile_astrocytoma_ganglioglioma,,,,,,,, 15489,papillary_glioneuronal_tumor,,,,,,,, 15490,primary_hypergonadotropic_hypogonadism_partial_alopecia,,,,,,,, 15491,rosette_forming_glioneuronal_tumour_of_the_fourth_ventricule,,,,,,,, 15492,hypogonadotropic_hypogonadism_frontoparietal_alopecia,,,,,,,, 15493,yolk_sac_tumor_of_the_central_nervous_system,,,,,,,, 15494,choriocarcinoma_of_the_central_nervous_system,,,,,,,, 15495,hypogonadotropic_hypogonadism_retinitis_pigmentosa,,,,,,,, 15496,male_hypergonadotropic_hypogonadism_intellectual_deficit_skeletal_anomalies,,,,,,,Q87.8, 15497,focal_palmoplantar_and_gingival_keratoderma,,,,,,,Q82.8, 15498,palmoplantar_keratoderma_esophageal_carcinoma_syndrome,,,,,,,, 15499,anaplastic_large_cell_medulloblastoma,,,,,,,, 15500,papillary_tumour_of_the_pineal_region,,,,,,,, 15501,maternal_hyperthermia_induced_birth_defects,,,,,,,Q86.8, 15502,hypotrichosis_intellectual_deficit_lopes_type,,,,,,,, 15503,2q32q33_microdeletion_syndrome,,,,,,,Q93.5, 15504,2q331_microdeletion_syndrome,,,,,,,Q93.5, 15505,ichthyosis_alopecia_eclabion_ectropion_intellectual_deficit,,,,,,,, 15506,paternal_uniparental_disomy_of_chromosome_1,,,,,,,Q99.8, 15507,maternal_uniparental_disomy_of_chromosome_1,,,,,,,Q99.8, 15508,2q311_microdeletion_syndrome,,,,,,,Q93.5, 15509,7q31_microdeletion_syndrome,,,,,,,Q93.5, 15510,8p112_deletion_syndrome,,,,,,,Q93.5, 15511,8p231_microduplication_syndrome,,,,,,,Q92.3, 15512,6p22_microdeletion_syndrome,,,,,,,Q93.5, 15513,congenital_ichthyosis_microcephalus_tetraplegia,,,,,,,, 15514,ulna_hypoplasia_intellectual_deficit,,,,,,C536934,Q87.2, 15515,familial_isolated_hypoparathyroidism_due_to_agenesis_of_parathyroid_gland,,,,,,,E20.8, 15516,autosomal_recessive_stickler_syndrome,,,,,,,Q15.8|Q87.5, 15517,hyposmia_nasal_and_ocular_hypoplasia_hypogonadotropic_hypogonadism,,,,,,,, 15518,pancreatic_hypoplasia_diabetes_congenital_heart_disease,,,,,,,, 15519,autosomal_dominant_optic_atrophy_and_peripheral_neuropathy,,,,,,,H47.2, 15520,hereditary_persistence_of_fetal_hemoglobin_sickle_cell_disease,,,,,,,D57.2, 15521,isotretinoin_like_syndrome,,,,,,,Q87.8, 15522,isotretinoin_syndrome,isotretinoin,,,,,,Q86.8, 15523,sickle_cell_hemoglobin_d_disease,,,,,,,D57.2, 15524,sickle_cell_beta_thalassemia_disease,,,,,,,D57.2, 15525,46xy_partial_gonadal_dysgenesis,,,,,,,Q56.1, 15526,distal_arthrogryposis_type_10,,,,,,,, 15527,dysmorphism_short_stature_deafness_disorder_of_sex_development,,,,,,,Q87.8, 15528,benign_concentric_annular_macular_dystrophy,,,,,,,H35.5, 15529,autosomal_dominant_spastic_ataxia_1,,,,,,,G11.8, 15530,idiopathic_recurrent_pericarditis,,,,,,,E85.0, 15531,infantile_onset_panniculitis_with_uveitis_and_systemic_granulomatosis,,,,,,,, 15532,lethal_infantile_mitochondrial_myopathy,,,,,,,, 15533,mitochondrial_myopathy_with_reversible_cytochrome_c_oxidase_deficiency,,,,,G71.3,,, 15534,maternally_inherited_mitochondrial_dystonia,,,,,,,, 15535,pure_mitochondrial_myopathy,,,,,,,, 15536,autosomal_dominant_optic_atrophy_and_late_onset_deafness,,,,,,,, 15537,deafness_encephaloneuropathy_obesity_valvulopathy,,,,,,,, 15538,oculo_palato_cerebral_syndrome,,,,,,,Q87.8, 15539,oculoosteocutaneous_syndrome,,,,,,,, 15540,oculotrichodysplasia,,,,,,,, 15541,maternally_inherited_mitochondrial_hypertrophic_cardiomyopathy,,,,,,,, 15542,leigh_syndrome_with_leukodystrophy,,,,,,,G31.8, 15543,oculodental_syndrome_rutherfurd_type,,,,,,C537732,Q87.8, 15544,blepharophimosis_intellectual_deficit_syndrome_ohdo_type,,,,,,,, 15545,omodysplasia,,,,,,,Q78.8, 15546,odontotrichomelic_syndrome,,,,,,,,239028001 15547,odontomatosis_aortae_esophagus_stenosis,,,,,,,, 15548,autosomal_recessive_congenital_sideroblastic_anemia,,,,,,,D64.0, 15549,benign_schwannoma,,,,,,,, 15550,oral_facial_digital_syndrome_type_4,,,,,,,Q87.0, 15551,malignant_perineurioma,,,,,,,, 15552,benign_peripheral_nerve_sheath_tumor,,,,,,,, 15553,primary_melanoma_of_the_central_nervous_system,,,,,,,, 15554,ophthalmoplegia_intellectual_deficit_lingua_scrotalis,,,,,,,, 15555,ophthalmoplegia_myalgia_tubular_aggregates,,,,,,,, 15556,diffuse_leptomeningeal_melanocytosis,,,,,,,, 15557,teratoma_of_the_central_nervous_system,,,,,,,, 15558,mixed_germ_cell_tumor_of_the_central_nervous_system,,,,,,,, 15559,multicentric_carpo_tarsal_osteolysis_with_or_without_nephropathy,,,,,,,, 15560,distal_7q1123_microdeletion_syndrome,,,,,,,Q93.5, 15561,19p1312_microdeletion_syndrome,,,,,,,Q93.5, 15562,motor_developmental_delay_due_to_14q322_paternally_expressed_gene_defect,,,,,,,, 15563,multiple_congenital_anomalies_due_to_14q322_maternally_expressed_gene_defect,,,,,,,, 15564,paternal_14q322_microdeletion_syndrome,,,,,,,Q93.5, 15565,maternal_14q322_microdeletion_syndrome,,,,,,,Q93.5, 15566,lichen_planus_pemphigoides,lichen_planus_pemphigoides,,,,,,L43.8, 15567,otodental_syndrome,,,,,,,K00.2, 15568,inhalational_botulism,,,,,,,A05.1, 15569,iatrogenic_botulism,,,,,,,A05.1, 15570,annular_atrophic_lichen_planus,,,,,,,L43.8, 15571,annular_lichen_planus,annular_lichen_planus,,,,,,L43.8, 15572,osteoporosis_macrocephaly_blindness_joint_hyperlaxity,,,,,,,, 15573,atrophic_lichen_planus,atrophic_lichen_planus,,,,,,L43.8, 15574,linear_lichen_planus,linear_lichen_planus,,,,,,L43.8, 15575,actinic_lichen_planus,actinic_lichen_planus,,,,,,L43.8, 15576,paraplegia_brachydactyly_cone_shaped_epiphysis,,,,,,,G82.1, 15577,spastic_paraplegia_epilepsy_intellectual_deficit,,,,,,,, 15578,spastic_paraplegia_glaucoma_intellectual_deficit,,,,,,,, 15579,pigmented_hypertrichosis_with_insulin_dependent_diabetes_mellitus_syndrome,,,,,,,, 15580,familial_recurrent_peripheral_facial_palsy,,,,,,,G51.0, 15581,familial_sinus_histiocytosis_with_massive_lymphadenopathy,,,,,,,D76.3, 15582,partial_hydatidiform_mole,partial_hydatidiform_mole,,,,,,O01.1, 15583,genetic_hyperferritinemia_without_iron_overload,,,,,,,, 15584,maternal_14q322_hypermethylation_syndrome,,,,,,,Q99.8, 15585,paternal_14q322_hypomethylation_syndrome,,,,,,,, 15586,mullerian_duct_anomalies_limb_anomalies,,,,,,,Q87.8, 15587,limb_transversal_defect_cardiac_anomaly,,,,,,,Q87.2, 15588,syndactyly_type_8,,,,,,,Q70.0, 15589,metaphyseal_dysostosis_intellectual_deficit_conductive_deafness,,,,,,,Q78.5, 15590,metaphyseal_dysplasia_maxillary_hypoplasia_brachydacty,,,,,,,Q77.8, 15591,multiple_benign_circumferential_skin_creases_on_limbs,,,,,,C537575,Q82.8,239142006 15592,microcephaly_cardiac_defect_lung_malsegmentation,,,,,,,Q87.8, 15593,microcephaly_cleft_palate,,,,,,,Q87.8, 15594,autosomal_recessive_chorioretinopathy_microcephaly,,,,,,,, 15595,microcephaly_deafness_intellectual_deficit,,,,,,,Q87.8, 15596,mietens_syndrome,,,,,,,,40291001 15597,mobius_syndrome_axonal_neuropathy_hypogonadotropic_hypogonadism,,,,,,,, 15598,spastic_ataxia_corneal_dystrophy,,,,,,,G11.8, 15599,x_linked_immunoneurologic_disorder,,,,,,,D82.8, 15600,14q12_microdeletion_syndrome,,,,,,,Q93.5, 15601,shoulder_and_girdle_defects_familial_intellectual_deficit,,,,,,,, 15602,14q112_microdeletion_syndrome,,,,,,,Q93.5, 15603,distal_7q1123_microduplication_syndrome,,,,,,,Q92.3, 15604,16p1311_microdeletion_syndrome,,,,,,,Q93.5, 15605,16p1311_microduplication_syndrome,,,,,,,Q92.3, 15606,distal_16p112_microdeletion_syndrome,,,,,,,Q93.5, 15607,14q112_microduplication_syndrome,,,,,,,Q92.3, 15608,16p112p122_microduplication_syndrome,,,,,,,Q92.3, 15609,16p112p122_microdeletion_syndrome,,,,,,,Q93.5, 15610,15q14_microdeletion_syndrome,,,,,,,Q93.5, 15611,20p123_microdeletion_syndrome,,,,,,,Q93.5, 15612,low_birth_weight_dwarfism_dysgammaglobulinemia,,,,,,,D82.8, 15613,paternal_20q132q133_microdeletion_syndrome,,,,,,,Q93.5, 15614,17q231q232_microdeletion_syndrome,,,,,,,Q93.5, 15615,17q12_microdeletion_syndrome,,,,,,,Q93.5, 15616,17q12_microduplication_syndrome,,,,,,,Q92.3, 15617,16q243_microdeletion_syndrome,,,,,,,Q93.5, 15618,distal_17p133_microdeletion_syndrome,,,,,,,Q93.5, 15619,distal_22q112_microduplication_syndrome,,,,,,,Q92.3, 15620,monosomy_xp21,,,,,,,Q99.8, 15621,2p15p161_microdeletion_syndrome,,,,,,,Q93.5, 15622,20q1333_microdeletion_syndrome,,,,,,,Q93.5, 15623,distal_22q112_microdeletion_syndrome,,,,,,,Q93.5, 15624,21q2211q2212_microdeletion_syndrome,,,,,,,Q93.5, 15625,paternal_uniparental_disomy_of_chromosome_x,,,,,,,Q99.8, 15626,maternal_uniparental_disomy_of_chromosome_x,,,,,,,Q99.8, 15627,49xxxyy_syndrome,,,,,,,Q98.8, 15628,micromelic_dwarfism_fryns_type,,,,,,C537556,Q77.8, 15629,ring_chromosome_y,,,,,,,Q98.6, 15630,xq273q28_duplication_syndrome,,,,,,,Q99.8, 15631,retinitis_pigmentosa_and_intellectual_deficit_due_to_monosomy_xp113,,,,,,,, 15632,mesomelic_dwarfism_reinhardt_pfeiffer_type,,,,,,C537349,Q78.8, 15633,atypical_norrie_disease_due_to_monosomy_xp113,,,,,,,H35.5, 15634,blepharophimosis_epicanthus_inversus_ptosis_due_to_polya_expansion,,,,,,,Q10.3, 15635,mowat_wilson_syndrome_due_to_monosomy_2q22,,,,,,,Q43.1, 15636,mowat_wilson_syndrome_due_to_a_point_mutation,,,,,,,Q43.1, 15637,blepharophimosis_epicanthus_inversus_ptosis_due_to_3q23_microdeletion,,,,,,,Q10.3, 15638,blepharophimosis_epicanthus_inversus_ptosis_due_to_a_point_mutation,,,,,,,Q10.3, 15639,dwarfism_intellectual_deficit_eye_abnormality,,,,,,,Q87.1, 15640,okihiro_syndrome_due_to_a_point_mutation,,,,,,,Q87.8, 15641,kleefstra_syndrome_due_to_a_point_mutation,,,,,,,Q87.0, 15642,intellectual_deficit_x_linked_raynaud_type,,,,,,,, 15643,14q22q23_microdeletion_syndrome,,,,,,,Q93.5, 15644,intellectual_deficit_x_linked_schutz_type,,,,,,,, 15645,intellectual_deficit_x_linked_gu_type,,,,,,,, 15646,intellectual_deficit_x_linked_brooks_type,,,,,,,, 15647,intellectual_deficit_x_linked_martinez_type,,,,,,,, 15648,intellectual_deficit_x_linked_short_stature_obesity,,,,,,,, 15649,intellectual_deficit_hypotonia_skin_hyperpigmentation,,,,,,,, 15650,intellectual_deficit_x_linked_seizures_psoriasis,,,,,,,, 15651,intellectual_deficit_unusual_facies_davis_lafer_type,,,,,,,, 15652,blepharophimosis_intellectual_deficit_syndrome_sbbys_type,,,,,,,, 15653,intellectual_deficit_dysmorphism_hypogonadism_diabetes_mellitus,,,,,,,, 15654,intellectual_deficit_cataracts_calcified_pinnae_myopathy,,,,,,,, 15655,intellectual_deficit_balding_patella_luxation_acromicria,,,,,,,Q87.8, 15656,delayed_speech_facial_asymmetry_strabismus_ear_lobe_creases,,,,,,,Q87.0, 15657,nk_cell_enteropathy,,,,,,,, 15658,growth_delay_hydrocephaly_lung_hypoplasia,,,,,,,, 15659,generalized_peeling_skin_syndrome_type_c,,,,,,,Q80.8, 15660,generalized_peeling_skin_syndrome_type_a,,,,,,,Q80.8, 15661,generalized_peeling_skin_syndrome_type_b,,,,,,,Q80.8, 15662,generalized_peeling_skin_syndrome,,,,,,,Q80.8, 15663,hyperinsulinism_due_to_hnf4a_deficiency,,,,,,,E16.1, 15664,retinal_ischemic_syndrome_digestive_tract_small_vessel_hyalinosis_diffuse_cerebral_calcifications,,,,,,C535283,, 15665,nevus_of_ota,nevus_of_ota,,,,,,D22.3, 15666,congenital_smooth_muscle_hamartoma,congenital_smooth_muscle_hamartoma,,,,,,, 15667,infantile_spams_psychomotor_retardation_progressive_brain_atrophy_basal_ganglia_disease,,,,,,,, 15668,bartter_syndrome_with_hypocalcemia,,,,,,,E26.8, 15669,spastic_tetraplegia_retinitis_pigmentosa_intellectual_deficit,,,,,,,, 15670,moderately_differentiated_thymic_neuroendocrine_carcinoma,,,,,,,C37, 15671,poorly_differentiated_thymic_neuroendocrine_carcinoma,,,,,,,C37, 15672,mirror_polydactyly_vertebral_segmentation_limbs_defects,,,,,,,Q87.2, 15673,postcardiotomy_right_ventricular_failure,,,,,,,, 15674,thymoma_type_a,,,,,,,C37|D15.0, 15675,thymoma_type_b,,,,,,,C37|D15.0, 15676,thymoma_type_ab,,,,,,,C37|D15.0, 15677,well_differentiated_thymic_neuroendocrine_carcinoma,,,,,,,C37, 15678,pterygium_of_the_conjunctiva_familial_form,,,,,,,, 15679,pterygium_colli_intellectual_deficit_digital_anomalies,,,,,,,Q87.0, 15680,nephrogenic_diabetes_insipidus_intracranial_calcification,,,,,,,, 15681,autoimmune_polyendocrinopathy_type_2,,,,,,,E31.0, 15682,rudiger_syndrome,rudiger_syndrome,,,,,,Q87.8, 15683,robinow_like_syndrome,,,,,,,Q87.1, 15684,autosomal_dominant_robinow_syndrome,,,,,,,Q87.1, 15685,congenital_pulmonary_venous_return_anomaly,,,,,,,Q26.2|Q26.3|Q26.4, 15686,severe_x_linked_intellectual_deficit_gustavson_type,,,,,,,F72.9, 15687,intellectual_deficit_wolff_type,,,,,,,Q87.0, 15688,intellectual_deficit_x_linked_wittner_type,,,,,,,, 15689,intellectual_deficit_myopathy_short_stature_endocrine_defect,,,,,,,, 15690,intellectual_deficit_microcephaly_phalangeal_facial_abnormalities,,,,,,,, 15691,primary_tethered_chord_syndrome,,,,,,,, 15692,leptomyelolipoma,,,,,,,, 15693,parietal_encephalocele,,,,,,,Q01.8, 15694,basal_encephalocele,,,,,,,Q01.8, 15695,isolated_megalencephaly,,,,,,,Q04.5, 15696,primary_syringomyelia_hydromyelia,,,,,,,G95.0, 15697,congenital_hydromyelia,,,,,,,Q06.4, 15698,neurenteric_cyst,,,,,,,, 15699,isolated_amyelia,,,,,,,Q06.0, 15700,upper_thoracic_spina_bifida_cystica,,,,,,,, 15701,short_stature_deafness_neutrophil_dysfunction_dysmorphism,,,,,,,, 15702,cervicothoracic_spina_bifida_cystica,,,,,,,, 15703,cervical_spina_bifida_cystica,,,,,,,, 15704,lumbosacral_spina_bifida_cystica,,,,,,,, 15705,thoracolumbosacral_spina_bifida_cystica,,,,,,,, 15706,total_spina_bifida_cystica,,,,,,,, 15707,spina_bifida_cystica,,,,,,,, 15708,upper_thoracic_spina_bifida_aperta,,,,,,,, 15709,occipital_encephalocele,,,,,Q01.2,,Q01.2, 15710,cranial_meningocele,,,,,,,Q01, 15711,myelocystocele,,,,,,,Q05, 15712,phakomatosis_pigmentokeratotica,phakomatosis_pigmentokeratotica,,,,,C537893,Q85.8, 15713,posterior_meningocele,,,,,,,Q05, 15714,short_stature_valvular_heart_disease_characteristic_facies,,,,,,,, 15715,congenital_pericardium_anomaly,,,,,,,Q24.8,93018000 15716,pericardial_and_diaphragmatic_defect,,,,,,,, 15717,hereditary_thrombocytopenia_with_normal_platelets,,,,,,,D69.4, 15718,pellagra_like_skin_rash_neurological_manifestations,,,,,,,E72.8, 15719,pelvis_shoulder_dysplasia,,,,,,,Q87.5, 15720,thoracolumbosacral_spina_bifida_aperta,,,,,,,, 15721,lumbosacral_spina_bifida_aperta,,,,,,,, 15722,cervical_spina_bifida_aperta,,,,,,,, 15723,cervicothoracic_spina_bifida_aperta,,,,,,,, 15724,open_iniencephaly,,,,,,,Q00.2, 15725,closed_iniencephaly,,,,,,,Q00.2, 15726,alopecia_intellectual_deficit_syndrome,,,,,,,Q87.8, 15727,spina_bifida_aperta,,,,,,,, 15728,total_spina_bifida_aperta,,,,,,,, 15729,ras_associated_autoimmune_lymphoproliferative_disease,,,,,,,, 15730,intraocular_medulloepithelioma,,,,,,,, 15731,21q2213q222_microdeletion_syndrome,,,,,,,Q93.5, 15732,mycophenolate_mofetil_embryopathy,,,,,,,Q86.8, 15733,complication_in_hemodialysis,,,,,,,, 15734,autosomal_dominant_prognathism,,,,,,,K07.1, 15735,46xx_disorder_of_sex_development_anorectal_anomalies,,,,,,,, 15736,46xx_disorder_of_sex_development_skeletal_anomalies,,,,,,,, 15737,acro_oto_ocular_syndrome,,,,,,,Q87.0, 15738,langerhans_cell_histiocytosis_in_childhood_and_adulthood,,,,,,,, 15739,absent_thumb_short_stature_immunodeficiency,,,,,,,D82.8, 15740,adducted_thumbs_arthrogryposis_christian_type,,,,,,,Q74.8, 15741,progeria_short_stature_pigmented_nevi,,,,,,C536422,,399947002 15742,intellectual_deficit_x_linked_dysmorphism_cerebral_atrophy,,,,,,,, 15743,langerhans_cell_histiocytosis_specific_to_childhood,,,,,,,, 15744,langerhans_cell_histiocytosis_specific_to_adulthood,,,,,,,, 15745,hereditary_acrokeratotic_poikiloderma_weary_type,,,,,,,Q82.8, 15746,isolated_pulmonary_capillaritis,,,,,,,, 15747,preaxial_polydactyly_colobomata_intellectual_deficit,,,,,,,, 15748,distal_trisomy_19q,,,,,,,Q92.3, 15749,trichomegaly_retina_pigmentary_degeneration_dwarfism,,,,,,,, 15750,trigonocephaly_broad_thumbs,,,,,,,Q82.0, 15751,bile_acid_coa_ligase_deficiency_and_defective_amidation,,,,,,,, 15752,hemolytic_disease_of_the_newborn_with_kell_allo_immunization,,,,,,,P55.8, 15753,isolated_anterior_cervical_hypertrichosis,,,,,,,L68.2, 15754,mosaic_trisomy_2,,,,,,,Q92.1, 15755,hypoplastic_tibiae_postaxial_polydactyly,,,,,,,Q74.8, 15756,thyrocerebrorenal_syndrome,,,,,,,, 15757,thiemann_disease_familial_form,,,,,,,M93.2, 15758,intellectual_deficit_microcephaly_unusual_facies,,,,,,,, 15759,tricho_oculo_dermo_vertebral_syndrome,,,,,,,, 15760,torres_aybar_syndrome,,,,,,,, 15761,zimmermann_laband_syndrome,,,,,,,Q87.8, 15762,wilson_turner_syndrome,,,,,,,, 15763,radiculomegaly_of_canine_teeth_congenital_cataract,,,,,,,, 15764,symbrachydactyly_of_hands_and_feet,,,,,,,Q73.8, 15765,x_linked_intellectual_deficit_epilepsy,,,,,,,, 15766,isolated_focal_cortical_dysplasia_type_ib,,,,,,,Q04.8, 15767,isolated_focal_cortical_dysplasia_type_ic,,,,,,,Q04.8, 15768,velo_facial_skeletal_syndrome,,,,,,,Q87.0, 15769,isolated_focal_cortical_dysplasia_type_ia,,,,,,,Q04.8, 15770,isolated_focal_cortical_dysplasia_type_iib,,,,,,,Q04.8, 15771,isolated_focal_cortical_dysplasia_type_ii,,,,,,,Q04.8, 15772,isolated_focal_cortical_dysplasia_type_iia,,,,,,,Q04.8, 15773,bilateral_polymicrogyria,,,,,,,Q04.3, 15774,unilateral_polymicrogyria,,,,,,,Q04.3, 15775,isolated_arhinencephaly,,,,,,,Q04.1, 15776,isolated_focal_cortical_dysplasia_type_i,,,,,,,Q04.8, 15777,unilateral_focal_polymicrogyria,,,,,,,Q04.3, 15778,isolated_bilateral_hemispheric_cerebellar_hypoplasia,,,,,,,Q04.3, 15779,isolated_unilateral_hemispheric_cerebellar_hypoplasia,,,,,,,Q04.3, 15780,congenital_non_communicating_hydrocephalus,,,,,,,Q03.1|Q03.2|Q03.8, 15781,congenital_communicating_hydrocephalus,,,,,,,Q03.8, 15782,isolated_cerebellar_vermis_agenesis,,,,,,,Q04.3, 15783,retrocerebellar_cyst,,,,,,,, 15784,glioependymal_ependymal_cyst,,,,,,,, 15785,isolated_dandy_walker_malformation_without_hydrocephalus,,,,,,,Q03.1, 15786,isolated_dandy_walker_malformation_with_hydrocephalus,,,,,,,Q03.1, 15787,waardenburg_syndrome_pierpont_type,,,,,,,, 15788,isolated_partial_cerebellar_vermis_agenesis,,,,,,,Q04.3, 15789,isolated_total_cerebellar_vermis_agenesis,,,,,,,Q04.3, 15790,autoimmune_pancreatitis_type_2,,,,,,,K86.1, 15791,autoimmune_pancreatitis_type_1,,,,,,,K86.1, 15792,autosomal_recessive_limb_girdle_muscular_dystrophy_dystroglycanopathy_type_c7,,,,,,,G71.0, 15793,distal_monosomy_12p,,,,,,,Q93.5, 15794,pelizaeus_merzbacher_like_due_to_aimp1_mutation,,,,,,,E75.2, 15795,sternal_malformation_vascular_dysplasia,,,,,,,, 15796,autosomal_codominant_severe_lipodystrophic_laminopathy,,,,,,,E88.1, 15797,familial_partial_lipodystrophy_associated_with_plin1_mutations,,,,,,,E88.1, 15798,familial_omphalocele_syndrome_with_facial_dysmorphism,,,,,,,, 15799,familial_steroid_resistant_nephrotic_syndrome_with_sensorineural_deafness,,,,,,,N04, 15800,deafness_white_hair_contractures_papillomas,,,,,,,, 15801,recessive_intellectual_disability_motor_dysfunction_multiple_joint_contractures,,,,,,,, 15802,familial_alzheimer_like_prion_disease,,,,,,,A81.8, 15803,fatal_infantile_hypertonic_myofibrillar_myopathy,,,,,,,G71.2, 15804,deafness_small_bowel_diverticulosis_neuropathy,,,,,,,, 15805,calciphylaxis_cutis,,,,,,,E83.5, 15806,omphalocele_syndrome_shprintzen_goldberg_type,,,,,,,Q79.2, 15807,severe_combined_immunodeficiency_due_to_lck_deficiency,,,,,,,D81.1, 15808,visceral_calciphylaxis,,,,,,,E83.5, 15809,pelizaeus_merzbacher_disease_connatal_form,,,,,,,E75.2, 15810,pelizaeus_merzbacher_disease_classic_form,,,,,,,E75.2, 15811,microform_holoprosencephaly,,,,,,,Q04.2, 15812,laryngo_tracheo_esophageal_cleft_type_0,,,,,,,Q32.1, 15813,spasticity_intellectual_deficit_x_linked_epilepsy,,,,,,,, 15814,septopreoptic_holoprosencephaly,,,,,,,Q04.2, 15815,eyebrow_duplication_syndactyly,,,,,,,, 15816,null_syndrome,,,,,,,E75.2, 15817,pelizaeus_merzbacher_disease_transitional_form,,,,,,,E75.2, 15818,pelizaeus_merzbacher_disease_in_female_carriers,,,,,,,E75.2, 15819,adult_onset_non_insulinoma_persistent_hyperinsulinemic_hypoglycemia,,,,,,,, 15820,familial_lambdoid_synostosis,,,,,,,Q75.0, 15821,sporadic_pheochromocytoma_secreting_paraganglioma,,,,,,,, 15822,synostosis_microcephaly_scoliosis,,,,,,,, 15823,radioulnar_synostosis_intellectual_deficit_hypotonia,,,,,,,Q87.8, 15824,symptomatic_form_of_coffin_lowry_syndrome_in_female_carriers,,,,,,,Q87.0, 15825,sporadic_secreting_paraganglioma,,,,,,,, 15826,tachycardia_hypertension_microphthalmos_hyperglycinuria,,,,,,,, 15827,spasmus_nutans,,,,,,,F98.4, 15828,extensor_tendons_of_finger_anomalies,,,,,,,, 15829,toxic_maculopathy_due_to_antimalarial_drugs,,,,,,,H35.3|Y41.2, 15830,primary_oculocerebral_lymphoma,,,,,,,, 15831,fallot_complex_intellectual_deficit_growth_delay,,,,,,,Q87.8, 15832,spinocerebellar_ataxia_type_36,,,,,,,G11.8, 15833,deafness_lymphedema_leukemia,,,,,,,Q82.0, 15834,spinocerebellar_ataxia_type_32,,,,,G11.3,,G11.8, 15835,idiopathic_recurrent_stupor,,,,,,,, 15836,deafness_genital_anomalies_metacarpal_and_metatarsal_synostosis,,,,,,,Q87.8, 15837,machado_joseph_disease_type_1,,,,,,,G11.8, 15838,mucopolysaccharidosis_type_6_slowly_progressing,,,,,,,E76.2, 15839,mucopolysaccharidosis_type_6_rapidly_progressing,,,,,,,E76.2, 15840,deafness_onychodystrophy,,,,,,,Q87.8, 15841,machado_joseph_disease_type_3,,,,,,,G11.8, 15842,machado_joseph_disease_type_2,,,,,,,G11.8, 15843,deafness_ear_malformation_facial_palsy,,,,,,,Q87.0, 15844,cochleosaccular_degeneration_cataract,,,,,,,, 15845,hemihyperplasia_multiple_lipomatosis_syndrome,hemihyperplasia-multiple_lipomatosis_syndrome,,,,,,Q87.3, 15846,familial_multinodular_goiter,,,,,,,E04.2, 15847,cerebral_vasculopathy_with_early_onset_stroke,,,,,,,, 15848,10q223q233_microdeletion_syndrome,,,,,,,Q93.5, 15849,limbic_encephalitis_with_caspr2_antibodies,,,,,,,, 15850,hyperbiliverdinemia,,,,,,,, 15851,10q223q233_microduplication_syndrome,,,,,,,Q92.3, 15852,hyperinsulinism_due_to_ucp2_deficiency,,,,,,,E16.1, 15853,premature_ageing_appearance_developmental_delay_cardiac_arrhythmia_syndrome,,,,,,,, 15854,lower_motor_neuron_syndrome_with_late_adult_onset,,,,,,,, 15855,combined_immunodeficiency_due_to_zap70_deficiency,,,,,,,D81.8, 15856,infantile_krabbe_disease,,,,,,,E75.2, 15857,benign_familial_epilepsy_of_childhood_with_rolandic_spikes,,,,,,,G40.0, 15858,hemolytic_anemia_due_to_diphosphoglycerate_mutase_deficiency,,,,,,,D55.2, 15859,arachnodactyly_abnormal_ossification_intellectual_deficit,,,,,,,Q87.8, 15860,symptomatic_form_of_muscular_dystrophy_of_duchenne_and_becker_in_female_carriers,,,,,,,G71.0, 15861,cataract_deafness_hypogonadism,,,,,,,Q87.8, 15862,infundibulopelvic_stenosis_multicystic_kidney,,,,,,,, 15863,overlap_myositis,,,,,,,, 15864,autoimmune_necrotizing_myopathy,,,,,,,, 15865,rippling_muscle_disease_with_myasthenia_gravis,,,,,,,G70.8, 15866,late_infantile_or_juvenile_krabbe_disease,,,,,,,E75.2, 15867,adult_krabbe_disease,,,,,,,E75.2, 15868,serous_or_mucinous_cystadenoma_of_childhood,,,,,,,D27, 15869,borderline_ovarian_epithelial_tumor,,,,,,,C56, 15870,hypomyelination_neuropathy_arthrogryposis,,,,,,,, 15871,vaginal_germ_cell_malignant_tumor,,,,,,,C52, 15872,vulvovaginal_rhabdomyosarcoma,,,,,,,C52, 15873,mullerian_derivatives_lymphangiectasia_polydactyly,,,,,,,, 15874,otopalatodigital_syndrome,,,,,,,Q87.0, 15875,subacute_inflammatory_demyelinating_polyneuropathy,,,,,,,G61.8, 15876,isolated_asymptomatic_elevation_of_creatine_phosphokinase,,,,,,,, 15877,acquired_metabolic_neuropathy,,,,,,,, 15878,other_muscle_weakness_and_or_chronic_muscle_pain,,,,,,,, 15879,toxic_or_and_iatrogenic_neuropathy,,,,,,,, 15880,kallmann_syndrome_heart_disease,,,,,,,E23.0|Q24.9, 15881,arachnodactyly_intellectual_deficit_dysmorphism,,,,,,,Q87.8, 15882,hypopituitarism_short_stature_skeletal_anomalies,,,,,,,, 15883,white_matter_hypoplasia_corpus_callosum_agenesis_intellectual_deficit,,,,,,,, 15884,atherosclerosis_deafness_diabetes_epilepsy_nephropathy,,,,,,,, 15885,progressive_non_infectious_anterior_vertebral_fusion,,,,,,,Q87.8, 15886,macrocephaly_short_stature_paraplegia,,,,,,,, 15887,intellectual_deficit_x_linked_plagiocephaly,,,,,,,Q87.0, 15888,craniofacial_dysostosis_arthrogryposis_progeroid_appearance,,,,,,,Q87.8, 15889,muscular_pseudohypertrophy_hypothyroidism,,,,,,,E03.1, 15890,axonal_polyneuropathy_associated_with_igg_igm_iga_monoclonal_gammopathy,,,,,,,G61.8, 15891,craniosynostosis_cataract,,,,,,,, 15892,polyradiculoneuropathy_associated_with_igg_iga_igm_monoclonal_gammopathy_without_known_antibodies,,,,,,,G61.8, 15893,papillary_fibroelastoma_of_the_heart,,,,,,,, 15894,herpetiform_pemphigus,herpetiform_pemphigus,,,,,,L10.2, 15895,bowed_tibiae_radial_anomalies_osteopenia_fractures,,,,,,,, 15896,arthrogryposis_hyperkeratosis_lethal_form,,,,,,,, 15897,intellectual_deficit_sparse_hair_brachydactyly,,,,,,,, 15898,embryonary_disorganization_syndrome,,,,,,,, 15899,osteochondrodysplatic_nanism_deafness_retinitis_pigmentosa,,,,,,,, 15900,childhood_onset_proximal_spinal_muscular_atrophy_autosomal_dominant,,,,,,,G12.1, 15901,sacrococcygeal_dysgenesis_association,,,,,,C537225,, 15902,short_stature_intellectual_deficit_eye_anomalies_cleft_lip_palate,,,,,,,, 15903,blepharoptosis_cleft_palate_ectrodactyly_dental_anomalies,,,,,,,, 15904,facial_asymmetry_temporal_seizures,,,,,,,, 15905,non_papillary_transitional_cell_carcinoma_of_the_bladder,,,,,,,C67, 15906,celiac_disease_epilepsy_and_cerebral_calcification_syndrome,,,,,,,, 15907,trichodermal_syndrome_intellectual_deficit,,,,,,,, 15908,leukonychia_totalis_acanthosis_nigricans_like_lesions_abnormal_hair,,,,,,,Q82.8, 15909,pulmonary_fibrosis_hepatic_hyperplasia_bone_marrow_hypoplasia,,,,,,,, 15910,phako_anaphylactic_uveitis,,,,,,,H20.2, 15911,solitary_rectal_ulcer_syndrome,solitary_rectal_ulcer_syndrome,,,,,,K62.6, 15912,autosomal_recessive_spastic_paraplegia_type_18,,,,,,,G11.4, 15913,idiopathic_uveal_effusion_syndrome,,,,,,,, 15914,benign_familial_nocturnal_alternating_hemiplegia_of_childhood,,,,,,,, 15915,episodic_ataxia_type_7_2,,,,,,,G11.8, 15916,childhood_apraxia_of_speech,,,,,,,, 15917,hypercholesterolemia_due_to_cholesterol_7alpha_hydroxylase_deficiency,,,,,,,E78.0, 15918,mandibulofacial_dysostosis_deafness_postaxial_polydactyly,,,,,,,, 15919,congenital_isolated_thyroxine_binding_globulin_deficiency,,,,,,,E07.8, 15920,irvan_syndrome,,,,,,,H35.0, 15921,adult_familial_nephronophtisis_spastic_quadriparesia,,,,,,,, 15922,microcephaly_seizures_intellectual_deficit_heart_disease,,,,,,C537544,Q87.8, 15923,corpus_callosum_agenesis_double_urinary_collecting_system,,,,,,,, 15924,central_nervous_system_calcification_deafness_tubular_acidosis_anemia,,,,,,,, 15925,giant_infantile_hemangioma,,,,,,,D18.0, 15926,congenital_temporomandibular_joint_ankylosis,,,,,,,, 15927,lymphatic_malformation,,,,,,,D18.1,234095009 15928,maternally_inherited_progressive_external_ophthalmoplegia,,,,,,,H49.4, 15929,malignant_mixed_epithelial_mesenchymal_tumor_of_the_ovary,,,,,,,C56, 15930,salivary_gland_type_cancer_of_the_breast,,,,,,,C50, 15931,rare_adenocarcinoma_of_the_corpus_uteri,,,,,,,C54, 15932,hereditary_site_specific_ovarian_cancer_syndrome,,,,,,,C56, 15933,rare_adenocarcinoma_of_the_breast,,,,,,,C50, 15934,congenital_pulmonary_veins_stenosis,,,,,,,Q26.8,11614003 15935,carcinofibroma_of_the_corpus_uteri,,,,,,,C54, 15936,malignant_mixed_mullerian_tumor_of_the_corpus_uteri,,,,,,,C54, 15937,congenital_pulmonary_sequestration,,,,,,,Q33.2, 15938,adenosarcoma_of_the_corpus_uteri,,,,,,,C54, 15939,malignant_peripheral_neuroectodermal_tumor_of_the_corpus_uteri,,,,,,,C54, 15940,rhabdomyosarcoma_of_the_corpus_uteri,,,,,,,C54, 15941,congenital_pulmonary_valve_stenosis,,,,,Q22.1,D011666,Q22.1,67278007 15942,undifferentiated_carcinoma_of_the_corpus_uteri,,,,,,,C50, 15943,univentricular_heart,double_inlet_left_ventricle,,,,,,Q20.4, 15944,papillary_carcinoma_of_the_corpus_uteri,,,,,,,C54, 15945,aorto_ventricular_tunnel,,,,,,,Q20.8, 15946,squamous_cell_carcinoma_of_the_corpus_uteri,,,,,,,C50, 15947,adenoid_cystic_carcinoma_of_the_corpus_uteri,,,,,,,C54, 15948,transitional_cell_carcinoma_of_the_corpus_uteri,,,,,,,C54, 15949,poorly_differentiated_endocrine_carcinoma_of_the_corpus_uteri,,,,,,,C54, 15950,well_differentiated_endocrine_neoplasm_of_the_corpus_uteri,,,,,,,C54, 15951,rare_squamous_cell_carcinoma_of_the_cervix_uteri,,,,,,,C53, 15952,malignant_germ_cell_tumor_of_the_corpus_uteri,,,,,,,C54, 15953,adenosarcoma_of_the_cervix_uteri,,,,,,,C53, 15954,malignant_mullerian_mixed_tumor_of_the_cervix_uteri,,,,,,,C53, 15955,poorly_differentiated_endocrine_carcinoma_of_the_cervix_uteri,,,,,,,C53, 15956,idiopathic_pulmonary_alveolar_proteinosis,,,,,,,J84.0, 15957,malignant_peripheral_neuroectodermal_tumor_of_the_cervix_uteri,,,,,,,C53, 15958,leiomyosarcoma_of_the_cervix_uteri,,,,,,,C53, 15959,rhabdomyosarcoma_of_the_cervix_uteri,,,,,,,C53, 15960,glassy_cell_carcinoma_of_the_cervix_uteri,,,,,,,C53, 15961,adenoid_basal_carcinoma_of_the_cervix_uteri,,,,,,,C53, 15962,vascular_disruption_sequence,,,,,,,, 15963,intellectual_deficit_polydactyly_uncombable_hair,,,,,,,Q87.0, 15964,papillary_carcinoma_of_the_cervix_uteri,,,,,,,C53, 15965,malignant_germ_cell_tumor_of_the_cervix_uteri,,,,,,,C53, 15966,proximal_radioulnar_synostosis,,,,,,,Q74.0, 15967,prelingual_nonsyndromic_genetic_deafness,,,,,,,, 15968,postlingual_nonsyndromic_genetic_deafness,,,,,,,, 15969,tetrasomy_5p,,,,,,,Q99.8, 15970,distal_trisomy_17q,,,,,,C536579,Q92.3, 15971,isolated_congenitally_uncorrected_transposition_of_the_great_arteries,,,,,,,Q20.3, 15972,congenitally_uncorrected_transposition_of_the_great_arteries_with_cardiac_malformation,,,,,,,Q20.3, 15973,zunich_kaye_syndrome,,,,,,,Q87.8, 15974,classic_pantothenate_kinase_associated_neurodegeneration,,,,,,,G23.0, 15975,atypical_pantothenate_kinase_associated_neurodegeneration,,,,,,,G23.0, 15976,sino_auricular_heart_block,,,,,,,I45.5, 15977,bockenheimer_syndrome,,,,,,,Q27.4, 15978,microcephaly_facio_cardio_skeletal_syndrome_hadziselimovic_type,,,,,,,Q87.8, 15979,limbic_encephalitis_with_nmda_receptor_antibodies,,,,,,,G13.1, 15980,congenital_enterovirus_infection,,,,,,,P35.8, 15981,mucopolysaccharidosis_type_2b,,,,,,,E76.1, 15982,classical_mycosis_fungoides,,,,,C84.0,,C84.0, 15983,mucopolysaccharidosis_type_2a,,,,,,,E76.1, 15984,pulmonary_fungal_infections_in_patients_deemed_at_risk,,,,,,,, 15985,non_familial_renal_cell_carcinoma,,,,,,D002292,C64,41607009 15986,pouchitis,pouchitis,,,,,D019449,, 15987,5_fluorouracil_poisoning,,,,,,,T45.1, 15988,juvenile_chronic_recurrent_multifocal_osteomyelitis,,,,,,,M86.3, 15989,17q2131_microduplication_syndrome,,,,,,,Q92.3, 15990,cutis_verticis_gyrata_retinitis_pigmentosa_sensorineural_deafness,,,,,,,, 15991,susceptibility_to_chronic_infection_by_epstein_barr_virus,,,,,,,, 15992,cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss,,,,,,,, 15993,neuroendocrine_cell_hyperplasia_of_infancy,,,,,,,, 15994,pulmonary_interstitial_glycogenosis,,,,,,,, 15995,neonatal_acute_respiratory_distress_with_surfactant_metabolism_deficiency,,,,,,,, 15996,circumscribed_lymphatic_malformation,,,,,,,D18.1, 15997,atypical_coarctation_of_aorta,,,,,,,Q25.1, 15998,abnormal_origin_of_the_pulmonary_artery,,,,,,,Q25.7, 15999,17p133_microduplication_syndrome,,,,,,,Q92.3, 16000,congenital_insensitivity_to_pain_with_hyperhidrosis,,,,,,,, 16001,progressive_demyelinating_neuropathy_with_bilateral_striatal_necrosis,,,,,,,, 16002,pulmonary_valve_agenesis,,,,,,,Q22.2, 16003,absence_of_the_pulmonary_artery,,,,,,,Q25.7, 16004,19q1311_microdeletion_syndrome,,,,,,,Q93.5, 16005,microduplication_xp1122_p1123_syndrome,,,,,,,Q99.8, 16006,congenital_abnormal_systemic_venous_return,,,,,,,Q26.8, 16007,fixed_subaortic_stenosis,,,,,,,Q24.4, 16008,hypertrophic_cardiomyopathy_due_to_intensive_athletic_training,,,,,,,, 16009,non_familial_hypertrophic_cardiomyopathy,,,,,,,, 16010,coronary_arterial_fistulas,,,,,,,Q24.5, 16011,systemic_arteriovenous_fistula,,,,,,,Q27.3, 16012,non_familial_restrictive_cardiomyopathy,,,,,,,, 16013,non_familial_dilated_cardiomyopathy,,,,,,,, 16014,semilobar_holoprosencephaly,,,,,,,Q04.2,253138008 16015,macrothrombocytopenia_with_mitral_valve_insufficiency,,,,,,,D69.4, 16016,bleeding_diathesis_due_to_thromboxane_synthesis_deficiency,,,,,,,D69.8, 16017,transient_tyrosinemia_of_the_newborn,,,,,,,E70.2, 16018,hyperdibasic_aminoaciduria_type_1,,,,,,,E72.0, 16019,combined_hyperactive_dysfunction_syndrome_of_the_cranial_nerves,,,,,,,, 16020,clonic_hemifacial_spasm,,,,,G51.3,,G51.3, 16021,isolated_facial_myokymia,,,,,,,G51.4, 16022,hereditary_sclerosing_poikiloderma_weary_type,,,,,,,Q82.8,403774004 16023,hereditary_sclerosing_poikiloderma_with_tendon_and_pulmonary_involvement,,,,,,,Q82.8, 16024,sporadic_infantile_bilateral_striatal_necrosis,,,,,,,G23.2, 16025,combined_immunodeficiency_with_facio_oculo_skeletal_anomalies,,,,,,,D82.8, 16026,confetti_like_macular_atrophy,,,,,,,, 16027,severe_combined_immunodeficiency_due_to_coro1a_deficiency,,,,,,,D81.2, 16028,thymic_epithelial_neoplasm,,,,,,C536905,C37|D15.0,128621008 16029,autoimmune_polyendocrinopathy_type_4,,,,,,,, 16030,autoimmune_polyendocrinopathy_type_3,,,,,,,, 16031,toxic_oil_syndrome,toxic_oil_syndrome,,,,,,,239910001 16032,hughes_stovin_syndrome,,,,,,,M35.2, 16033,anal_fistula,anal_fistula,,,,K60.3,,K60.3, 16034,primary_cutaneous_cd30_t_cell_lymphoproliferative_disease,,,,,,D054446,C86.6,128875000|397352006 16035,hereditary_breast_cancer,,,,,,,C50, 16036,multiple_system_atrophy_cerebellar_type,,,,,,,G90.3, 16037,solitary_fibrous_tumor,solitary_fibrous_tumor,,,,,D006393,C49.9,134335004|36060005 16038,genetic_transient_congenital_hypothyroidism,,,,,,,, 16039,hypothyroidism_due_to_deficient_transcription_factors_involved_in_pituitary_development_or_function,,,,,,,, 16040,congenital_hypothyroidism_due_to_maternal_intake_of_antithyroid_drugs,,,,,,,, 16041,inherited_predisposition_to_essential_thrombocythemia,,,,,,,, 16042,5q35_microduplication_syndrome,,,,,,,Q92.3, 16043,ptosis_upper_ocular_movement_limitation_absence_of_lacrimal_punctum,,,,,,,Q87.0, 16044,tmco1_defect_syndrome,,,,,,,Q87.0, 16045,polyvalvular_heart_disease_syndrome,,,,,,,Q87.8, 16046,8q12_microduplication_syndrome,,,,,,,Q92.3, 16047,2q231_microdeletion_syndrome,,,,,,,Q93.5, 16048,virus_associated_trichodysplasia_spinulosa,trichodysplasia_spinulosa,,,,,,, 16049,severe_early_onset_axonal_neuropathy_due_to_nefl_deficiency,,,,,,,G60.0, 16050,idiopathic_hypersomnia_without_long_sleep_time,,,,,,,F51.1,442292004 16051,white_fibrous_papulosis_of_the_neck,,,,,,,, 16052,pseudoxanthoma_elasticum_like_papillary_dermal_elastocytosis,,,,,,,, 16053,mid_dermal_elastolysis,,,,,,,, 16054,idiopathic_hypersomnia_with_long_sleep_time,,,,,,,F51.1, 16055,elastoderma,,,,,,,,238832003 16056,elastofibroma_dorsi,elastofibroma_dorsi,,,,,,, 16057,acquired_pseudoxanthoma_elasticum,,,,,,,,403401007 16058,elastoma,elastoma,,,,,,, 16059,papular_elastorrhexis,,,,,,,, 16060,primary_anetoderma,,,,,,,L90.2|L90.1,238829001 16061,familial_anetoderma,,,,,,,L90.8, 16062,acquired_cutis_laxa,,,,,,,,19726003 16063,patent_ductus_arteriosus_bicuspid_aortic_valve_hand_anomalies,,,,,,,Q87.2, 16064,linear_focal_dermal_elastosis,,,,,,,, 16065,adolescent_benign_focal_crisis,,,,,,,G40.8, 16066,late_onset_focal_dermal_elastosis,,,,,,,, 16067,marburg_acute_multiple_sclerosis,,,,,,,, 16068,hermansky_pudlak_syndrome_without_pulmonary_fibrosis,,,,,,,E70.3, 16069,acute_pandysautonomia,,,,,,,G61.0,430042004 16070,acute_sensory_ataxic_neuropathy,,,,,,,G61.0, 16071,paraparetic_variant_of_guillain_barre_syndrome,,,,,,,G61.0, 16072,acute_pure_sensory_neuropathy,,,,,,,G61.0, 16073,pharyngeal_cervical_brachial_variant_of_guillain_barre_syndrome,,,,,,,G61.0, 16074,linear_verrucous_nevus_syndrome,,,,,,,Q82.5, 16075,beta_thalassemia_with_other_manifestations,,,,,,,D58.2, 16076,beta_thalassemia_trichothiodystrophy,,,,,,,D56.1|L67.8, 16077,hemoglobin_e_beta_thalassemia,,,,,,,D58.2,234392002 16078,hemoglobin_c_beta_thalassemia,,,,,,,D58.2, 16079,beta_thalassemia_associated_with_another_hemoglobin_anomaly,,,,,,,D58.2, 16080,chronic_diarrhea_with_villous_atrophy,,,,,,,K59.1, 16081,myopathy_and_diabetes_mellitus,,,,,,,E10|G71.3, 16082,familial_cerebral_saccular_aneurysm,,,,,,,, 16083,silver_russell_syndrome_due_to_maternal_uniparental_disomy_of_chromosome_11,,,,,,,Q87.1, 16084,beckwith_wiedemann_syndrome_due_to_cdkn1c_mutation,,,,,,,Q87.3, 16085,beckwith_wiedemann_syndrome_due_to_11p15_microdeletion,,,,,,,Q87.3, 16086,beckwith_wiedemann_syndrome_due_to_11p15_translocation_inversion,,,,,,,Q87.3, 16087,high_grade_dysplasia_in_patients_with_barrett_esophagus,,,,,,,, 16088,drug_induced_lupus_erythematosus,drug-induced_lupus_erythematosus,,,,,,M32.0,201436003|80258006 16089,beckwith_wiedemann_syndrome_due_to_imprinting_defect_of_11p15,,,,,,,Q87.3, 16090,familial_generalized_lentiginosis,,,,,,,L81.4, 16091,ehlers_danlos_osteogenesis_imperfecta_syndrome,,,,,,,Q79.6|Q78.0, 16092,erythema_palmaris_hereditarium,,,,,,,L59.8, 16093,congenital_trigeminal_anesthesia,,,,,,,G50.8, 16094,ehlers_danlos_syndrome_vascular_like_type,,,,,,,Q79.6, 16095,infundibulo_neurohypophysitis,,,,,,,, 16096,familial_renal_amyloidosis_due_to_apolipoprotein_aii_variant,,,,,,,E85.0, 16097,15q11q13_microduplication_syndrome,,,,,,,Q92.3, 16098,congenital_erosive_and_vesicular_dermatosis,congenital_erosive_and_vesicular_dermatosis,,,,,,, 16099,primary_unilateral_adrenal_hyperplasia,,,,,,,, 16100,late_onset_localized_junctional_epidermolysis_bullosa_intellectual_deficit,,,,,,,Q81.8, 16101,ectopic_aldosterone_producing_tumor,,,,,,,, 16102,adrenocortical_carcinoma_with_pure_aldosterone_hypersecretion,,,,,,,, 16103,epibulbar_lipodermoid_preauricular_appendage_polythelia,,,,,,,, 16104,isolated_lissencephaly_type_1_without_known_genetic_defects,,,,,,,Q04.3, 16105,4q21_microdeletion_syndrome,,,,,,,Q93.5, 16106,autosomal_dominant_limb_girdle_muscular_dystrophy_type_1h,,,,,,,G71.0, 16107,mammary_digital_nail_syndrome,,,,,,,Q87.2, 16108,ptosis_syndactyly_learning_difficulties,,,,,,,, 16109,1q44_microdeletion_syndrome,,,,,,,Q93.5, 16110,familial_clubfoot_due_to_17q231q232_microduplication,,,,,,,Q66.8, 16111,acquired_secondary_polycythemia,,,,,,,D75.1, 16112,atypical_hypotonia_cystinuria_syndrome,,,,,,,, 16113,congenital_secondary_polycythemia,,,,,,,D75.1, 16114,megacystis_megaureter_syndrome,,,,,,,Q62.7,253904001 16115,ileal_pouch_anal_anastomosis_related_faecal_incontinence,,,,,,,, 16116,beckwith_wiedemann_syndrome_due_to_nsd1_mutation,,,,,,,Q87.3, 16117,congenital_liver_hemangioma,,,,,,,, 16118,neonatal_iodine_exposure,,,,,,,, 16119,isolated_thyrotropin_releasing_hormone_deficiency,,,,,,,, 16120,congenital_primary_megaureter_nonrefluxing_and_unobstructed_form,,,,,,,Q62.2, 16121,congenital_primary_megaureter_refluxing_form,,,,,,,Q62.2, 16122,congenital_primary_megaureter_obstructed_form,,,,,,,Q62.2, 16123,primary_megaureter_adult_onset_form,,,,,,,Q62.2, 16124,progressive_supranuclear_palsy_progressive_non_fluent_aphasia,,,,,,,G23.1, 16125,progressive_supranuclear_palsy_corticobasal_syndrome,,,,,,,G23.1, 16126,progressive_supranuclear_palsy_pure_akinesia_with_gait_freezing,,,,,,,G23.1, 16127,immunodeficiency_due_to_masp_2_deficiency,,,,,,,D84.1, 16128,immunodeficiency_due_to_ficolin3_deficiency,,,,,,,D84.1, 16129,chronic_actinic_dermatitis,chronic_actinic_dermatitis,,,,,,, 16130,lymphomatous_meningitis,,,,,,,, 16131,senile_systemic_amyloidosis,senile_systemic_amyloidosis,,,,,,, 16132,classic_endocrine_tumor_of_the_appendix,,,,,,,, 16133,poliomyelitis_in_patients_with_immunodeficiencies_deemed_at_risk,,,,,,,, 16134,hemoglobin_lepore_beta_thalassemia,,,,,,,D56.1, 16135,autosomal_dominant_methemoglobinemia,,,,,,,D74.0, 16136,hypotrichosis_deafness_syndrome,,,,,,,, 16137,actinic_prurigo,actinic_prurigo,,,,,,, 16138,lethal_encephalopathy_due_to_mitochondrial_and_peroxisomal_fission_defect,,,,,,,, 16139,mosaic_genome_wide_paternal_uniparental_disomy,,,,,,,, 16140,5p13_microduplication_syndrome,,,,,,,Q92.3, 16141,non_hypoproteinemic_hypertrophic_gastropathy,,,,,,,, 16142,spastic_paraplegia_paget_disease_of_bone,,,,,,,, 16143,adult_onset_distal_myopathy_due_to_vcp_mutation,,,,,,,G71.0, 16144,transient_neonatal_multiple_acyl_coa_dehydrogenase_deficiency,,,,,,,, 16145,c3_glomerulonephritis,,,,,,,, 16146,intermittent_hydrarthrosis,,,,,M12.4,,, 16147,juvenile_overlap_myositis,,,,,,,, 16148,immunoglobulin_mediated_membranoproliferative_glomerulonephritis,,,,,,,,75888001 16149,adult_onset_multiple_mitochondrial_dna_deletion_syndrome_due_to_dguok_deficiency,,,,,,,, 16150,hereditary_thrombocytosis_with_transverse_limb_defect,,,,,,,Q87.2, 16151,inverse_klippel_trenaunay_syndrome,,,,,,,, 16152,distal_arthrogryposis_type_5d,,,,,,,, 16153,autosomal_dominant_focal_dystonia_dyt25,,,,,,,, 16154,acute_megakaryoblastic_leukemia_without_down_syndrome,,,,,C94.2,,, 16155,microcephaly_cerebellar_hypoplasia_cardiac_conduction_defect_syndrome,,,,,,,, 16156,adult_onset_chronic_progressive_external_ophthalmoplegia_with_mitochondrial_myopathy,,,,,,,, 16157,limbic_encephalitis_with_dpp6_antibodies,,,,,,,, 16158,microcephalic_primordial_dwarfism_due_to_znf335_deficiency,,,,,,,, 16159,intellectual_deficit_craniofacial_dysmorphism_cryptorchidism,,,,,,,, 16160,cerebral_sinovenous_thrombosis,,,,,,,, 16161,autosomal_dominant_neovascular_inflammatory_vitreoretinopathy,,,,,,,, 16162,developmental_delay_with_autism_spectrum_disorder_and_gait_instability,,,,,,,, 16163,tall_stature_scoliosis_macrodactyly_of_the_great_toes,,,,,,,, 16164,dpm2_cdg_syndrome,,,,,,,E77.8, 16165,autosomal_dominant_charcot_marie_tooth_disease_type_2q,,,,,,,G60.0, 16166,blepharophimosis_intellectual_deficit_syndrome_due_to_ube3b_deficiency,,,,,,,, 16167,spondylocostal_dysostosis_hypospadias_intellectual_deficit,,,,,,,, 16168,severe_early_onset_obesity_insulin_resistance_syndrome_due_to_sh2b1_deficiency,,,,,,,, 16169,congenital_chronic_diarrhea_with_protein_losing_enteropathy,,,,,,,, 16170,x_linked_central_congenital_hypothyroidism_with_late_onset_testicular_enlargement,,,,,,,, 16171,autoinflammatory_syndrome_with_pyogenic_bacterial_infection_and_amylopectinosis,,,,,,,, 16172,classic_congenital_lipoid_adrenal_hyperplasia_due_to_star_deficency,,,,,,,, 16173,leydig_cell_hypoplasia_due_to_lhb_deficiency,,,,,,,, 16174,non_classic_congenital_lipoid_adrenal_hyperplasia_due_to_star_deficency,,,,,,,, 16175,testicular_agenesis,testicular_agenesis,,,,,,Q55.0, 16176,46xy_ovotesticular_disorder_of_sex_development,,,,,,,, 16177,adult_onset_sapho_syndrome,,,,,,,M86.3, 16178,juvenile_onset_sapho_syndrome,,,,,,,M86.3, 16179,magic_syndrome,,,,,,,, 16180,proteasome_disability_syndrome,,,,,,,, 16181,invasive_non_typhoidal_salmonellosis,,,,,,,A02, 16182,autosomal_dominant_charcot_marie_tooth_disease_type_2_due_to_kif5a_mutation,,,,,,,G60.0, 16183,classic_multiminicore_myopathy,,,,,,,G71.2, 16184,hendra_virus_infection,,,,,,,B33.8, 16185,familial_dyskinesia_and_facial_myokymia,,,,,,,G51.4|G24.8, 16186,benign_samaritan_congenital_myopathy,,,,,,,G71.2, 16187,autosomal_dominant_intermediate_charcot_marie_tooth_disease_with_neuropathic_pain,,,,,,,G60.0, 16188,pontocerebellar_hypoplasia_type_8,,,,,,,Q04.3, 16189,hyperinsulinism_due_to_hnf1a_deficiency,,,,,,,E16.1, 16190,aphonia_deafness_retinal_dystrophy_bifid_halluces_intellectual_deficit,,,,,,,Q87.0, 16191,hypopigmentation_punctate_palmoplantar_keratoderma_syndrome,,,,,,,Q82.8, 16192,autoinflammation_and_plcg2_associated_antibody_deficiency_and_immune_dysregulation,,,,,,,, 16193,combined_oxidative_phosphorylation_defect_type_11,,,,,,,, 16194,hypertrophic_cardiomyopathy_and_renal_tubular_disease_due_to_mitochondrial_dna_mutation,,,,,,,, 16195,autosomal_recessive_axonal_neuropathy_with_neuromyotonia,,,,,,,G60.0, 16196,muscular_hypertrophy_hepatomegaly_polyhydramnios,,,,,,,, 16197,x_linked_intellectual_deficit_cardiomegaly_congestive_heart_failure,,,,,,,, 16198,hereditary_inclusion_body_myopathy_type_4,,,,,,,G71.8, 16199,mixed_sclerosing_bone_dystrophy_with_extra_skeletal_manifestations,,,,,,,Q87.0, 16200,congenital_achiasma,,,,,,,H47.4, 16201,sinoatrial_node_dysfunction_and_deafness,,,,,,,, 16202,9p13_microdeletion_syndrome,,,,,,,Q93.5, 16203,severe_lateral_tibial_bowing_with_short_stature,,,,,,,Q68.4, 16204,multiple_paragangliomas_associated_with_polycythemia,,,,,,,, 16205,t_cell_immunodeficiency_with_epidermodysplasia_verruciformis,,,,,,,D84.8, 16206,early_onset_lafora_body_disease,,,,,,,G40.3, 16207,autosomal_recessive_congenital_cerebellar_ataxia_due_to_mglur1_deficiency,,,,,,,G11.1, 16208,maternally_inherited_spastic_paraplegia,,,,,,,G11.4, 16209,autosomal_dominant_spastic_paraplegia_type_41,,,,,,,G11.4, 16210,autosomal_recessive_spastic_paraplegia_type_43,,,,,,,G11.4, 16211,autosomal_dominant_spastic_paraplegia_type_36,,,,,,,G11.4, 16212,autosomal_recessive_spastic_paraplegia_type_54,,,,,,,G11.4, 16213,autosomal_recessive_spastic_paraplegia_type_55,,,,,,,G11.4, 16214,autosomal_recessive_spastic_paraplegia_type_46,,,,,,,G11.4, 16215,autosomal_recessive_spastic_paraplegia_type_49,,,,,,,G11.4, 16216,autosomal_recessive_spastic_paraplegia_type_45,,,,,,,G11.4, 16217,autosomal_recessive_spastic_paraplegia_type_56,,,,,,,G11.4, 16218,spastic_paraplegia_optic_atrophy_neuropathy_syndrome,,,,,,,G11.4, 16219,mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_ifngammar2_deficiency,,,,,,,A31.9, 16220,combined_oxidative_phosphorylation_defect_type_14,,,,,,,, 16221,combined_oxidative_phosphorylation_defect_type_15,,,,,,,, 16222,combined_oxidative_phosphorylation_defect_type_9,,,,,,,, 16223,combined_oxidative_phosphorylation_defect_type_13,,,,,,,, 16224,autosomal_dominant_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_ifngammar2_deficiency,,,,,,,A31.9, 16225,mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_stat1_deficiency,,,,,,,A31.9, 16226,autosomal_recessive_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_ifngammar2_deficiency,,,,,,,A31.9, 16227,autosomal_dominant_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_ifngammar1_deficiency,,,,,,,A31.9, 16228,mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_isg15_deficiency,,,,,,,A31.9, 16229,autosomal_recessive_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_ifngammar1_deficiency,,,,,,,A31.9, 16230,mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_il12rb1_deficiency,,,,,,,A31.9, 16231,mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_il12b_deficiency,,,,,,,A31.9, 16232,pgm_cdg_syndrome,,,,,,,E77.8, 16233,amyloidosis_cutis_dyschromia,,,,,,,E85.4+|L99.0*, 16234,x_linked_mendelian_susceptibility_to_mycobacterial_diseases_due_to_cybb_deficiency,,,,,,,A31.9, 16235,mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_irf8_deficiency,,,,,,,A31.9, 16236,encephalopathy_hypertrophic_cardiomyopathy_renal_tubular_disease,,,,,,,, 16237,microcephalic_primordial_dwarfism_dauber_type,,,,,,,Q87.1, 16238,microcephalic_primordial_dwarfism_alazami_type,,,,,,,Q87.1, 16239,primary_lymphoma_of_the_conjunctiva,,,,,,,, 16240,unexplained_intellectual_deficit,,,,,,,, 16241,renal_cell_carcinoma_associated_with_neuroblastoma,,,,,,,C64, 16242,mucinous_tubular_and_spindle_cell_carcinoma,mucinous_tubular_and_spindle_cell_carcinoma,,,,,,C64, 16243,tubulocystic_carcinoma,,,,,,,C64, 16244,multilocular_cystic_renal_cell_carcinoma,,,,,,,C64, 16245,translocation_renal_cell_carcinoma,,,,,,,C64, 16246,autosomal_recessive_myogenic_arthrogryposis_multiplex_congenita,,,,,,,Q74.3, 16247,familial_papillary_or_follicular_thyroid_carcinoma,,,,,,,C73, 16248,acute_myeloid_leukemia_with_cebpa_somatic_mutations,,,,,,,C92.0, 16249,inherited_acute_myeloid_leukemia,,,,,,,C92.0, 16250,bilateral_massive_adrenal_hemorrhage,,,,,,,E27.4, 16251,chondroectodermal_dysplasia_with_night_blindness,,,,,Q77.6,,Q77.6, 16252,autosomal_recessive_spastic_paraplegia_type_53,,,,,,,G11.4, 16253,congenital_myopathy_with_internal_nuclei_and_atypical_cores,,,,,G71.2,,G71.2, 16254,familial_cortical_myoclonus,,,,,,,G25.3, 16255,diencephalic_mesencephalic_junction_dysplasia,,,,,,,Q04.8, 16256,wiedemann_steiner_syndrome,,,,,,,Q87.1, 16257,severe_combined_immunodeficiency_due_to_dna_pkcs_deficiency,,,,,,,D81.1, 16258,pancytopenia_due_to_ikzf1_mutations,,,,,,,D81.8, 16259,classic_congenital_adrenal_hyperplasia_due_to_21_hydroxylase_deficiency_simple_virilizing_form,,,,,,,E25.0, 16260,classic_congenital_adrenal_hyperplasia_due_to_21_hydroxylase_deficiency_salt_wasting_form,,,,,,,E25.0, 16261,cataract_congenital_heart_disease_neural_tube_defect_syndrome,,,,,,,, 16262,x_linked_non_progressive_cerebellar_ataxia,,,,,,,G11.0, 16263,lymphoid_hypereosinophilic_syndrome,,,,,,,D47.5, 16264,secondary_hypereosinophilic_syndrome,,,,,,,D47.5, 16265,primary_hypereosinophilic_syndrome,,,,,,,D47.5, 16266,mild_canavan_disease,,,,,,,E75.2, 16267,severe_canavan_disease,,,,,,,E75.2, 16268,acquired_porencephaly,,,,,,,, 16269,primary_localized_amyloidosis,,,,,,,E85.4, 16270,combined_immunodeficiency_due_to_stk4_deficiency,,,,,,,D81.8, 16271,primary_bone_lymphoma,,,,,,,, 16272,segmental_progressive_overgrowth_syndrome_with_fibroadipose_hyperplasia,,,,,,,, 16273,5q313_microdeletion_syndrome,,,,,,,Q93.5, 16274,cln11_disease,,,,,,,E75.4, 16275,duplication_of_the_pituitary_gland,,,,,,,, 16276,mitochondrial_hypertrophic_cardiomyopathy_with_lactic_acidosis_due_to_mto1_deficiency,,,,,,,, 16277,parkinsonim_due_to_atp13a2_deficiency,,,,,,,E75.4, 16278,primary_renal_tubular_acidosis,,,,,,,N25.8, 16279,autosomal_dominant_proximal_renal_tubular_acidosis,,,,,,,N25.8, 16280,silent_pituitary_adenoma,,,,,,,, 16281,null_pituitary_adenoma,,,,,,,, 16282,somatomammotropinoma,,,,,,,, 16283,lethal_arteriopathy_syndrome_due_to_fbln4_deficiency,,,,,,,, 16284,atypical_dentin_dysplasia_due_to_smoc2_deficiency,,,,,,,, 16285,isolated_anencephaly_exencephaly,,,,,,,Q00.0, 16286,early_onset_progressive_neurodegeneration_blindness_ataxia_spasticity,,,,,,,, 16287,corneal_intraepithelial_dyskeratosis_with_palmoplantar_hyperkeratosis_and_laryngeal_dyskeratosis,,,,,,,, 16288,hereditary_benign_corneal_intraepithelial_dyskeratosis,,,,,,,, 16289,autosomal_recessive_cerebellar_ataxia_with_late_onset_spasticity,,,,,,,, 16290,phalangeal_microgeodic_syndrome,,,,,,,, 16291,brain_dopamin_serotonin_vesicular_transport_disease,,,,,,,, 16292,progressive_myoclonic_epilepsy_with_dystonia,,,,,,,, 16293,16q241_microdeletion_syndrome,,,,,,,, 16294,male_infertility_due_to_nanos1_mutation,,,,,N46,,, 16295,severe_feeding_difficulties_failure_to_thrive_microcephaly_due_to_asxl3_deficiency,,,,,,,, 16296,focal_epilepsy_intellectual_deficit_cerebro_cerebellar_malformation,,,,,,,, 16297,oculocutaneous_albinism_type_mp,,,,,,,, 16298,oculocutaneous_albinism_type_ts,,,,,,,, 16299,cln13_disease,,,,,,,, 16300,facial_dysmorphism_immunodeficiency_livedo_short_stature,,,,,,,, 16301,progressive_retinal_dystrophy_due_to_retinol_transport_defect,,,,,,,, 16302,attenuated_chediak_higashi_syndrome,,,,,,,, 16303,cobblestone_lissencephaly_type_b,,,,,,,, 16304,9q21_microdeletion_syndrome,,,,,,,, 16305,autosomal_dominant_intermediate_charcot_marie_tooth_disease_type_f,,,,,,,, 16306,x_linked_charcot_marie_tooth_disease_type_6,,,,,,,, 16307,cobblestone_lissencephaly_without_muscular_or_ocular_involvement,,,,,,,, 16308,oculocutaneous_albinism_type_5,,,,,,,, 16309,ocular_albinism_with_congenital_sensorineural_deafness,,,,,,,, 16310,spectrin_associated_autosomal_recessive_cerebellar_ataxia,,,,,,,, 16311,congenital_ichthyosis_intellectual_deficit_spastic_quadriplegia,,,,,,,, 16312,megdel_syndrome,,,,,,,, 16313,progressive_external_ophthalmoplegia_myopathy_emaciation,,,,,,,, 16314,intellectual_deficit_obesity_brain_malformations_facial_dysmorphism,,,,,,,, 16315,infantile_hypertrophic_cardiomyopathy_due_to_mrpl44_deficiency,,,,,,,, 16316,autosomal_recessive_limb_girdle_muscular_dystrophy_due_to_ispd_deficiency,,,,,,,, 16317,autosomal_recessive_limb_girdle_muscular_dystrophy_with_cerebellar_involvement,,,,,,,, 16318,mitochondrial_dna_deletion_syndrome_with_progressive_myopathy,,,,,,,, 16319,juvenile_parkinsonism_with_intellectual_deficit_due_to_dnajc6_deficiency,,,,,,,, 16320,levodopa_unresponsive_juvenile_parkinsonism,,,,,,,, 16321,digital_anomalies_intellectual_deficit_short_stature,,,,,,,, 16322,autism_spectrum_disorder_due_to_auts2_deficiency,,,,,,,, 16323,chronic_intestinal_failure,,,,,,,, 16324,reunion_islands_larsen_syndrome,,,,,,,Q74.8, 16325,rapid_onset_childhood_obesity_hypothalamic_dysfunction_hypoventilation_autonomic_dysregulation_syndrome,,,,,,,, 16326,microcephaly_capillary_malformation_syndrome,,,,,,,Q87.8, 16327,neonatal_inflammatory_skin_and_bowel_disease,,,,,,,, 16328,2q311_microduplication_syndrome,,,,,,,Q92.3, 16329,hypoinsulinemic_hypoglycemia_and_body_hemihypertrophy,,,,,,,, 16330,hypogonadotropic_hypogonadism_severe_microcephaly_sensorineural_hearing_loss_dysmorphism_syndrome,,,,,,,, 16331,deficiency_in_anterior_pituitary_function_variable_immunodeficiency_syndrome,,,,,,,, 16332,hypertelorism_preauricular_sinus_punctual_pits_deafness_syndrome,,,,,,,, 16333,childhood_encephalopathy_due_to_thiamine_pyrophosphokinase_deficiency,,,,,,,, 16334,1p213_microdeletion_syndrome,,,,,,,Q93.5, 16335,distal_xq28_microduplication_syndrome,,,,,,,Q99.8, 16336,edict_syndrome,,,,,,,, 16337,lethal_occipital_encephalocele_skeletal_dysplasia_syndrome,,,,,,,Q87.5, 16338,familial_isolated_arrhythmogenic_ventricular_dysplasia_right_dominant_form,,,,,,,I42.8, 16339,familial_isolated_arrhythmogenic_ventricular_dysplasia_biventricular_form,,,,,,,I42.8, 16340,familial_isolated_arrhythmogenic_ventricular_dysplasia_left_dominant_form,,,,,,,I42.8, 16341,hypoplastic_pancreas_intestinal_atresia_hypoplastic_gallbalder_syndrome,,,,,,,Q45.8, 16342,right_temporal_lobar_atrophy,,,,,,,G31.0, 16343,fatal_infantile_encephalopathy_pulmonary_hypertension_syndrome,,,,,,,, 16344,craniofacial_ulnar_renal_syndrome,,,,,,,Q87.8, 16345,constitutional_dyserythropoietic_anemia,,,,,,,D64.4, 16346,mitf_related_melanoma_and_renal_cell_carcinoma_predisposition_syndrome,,,,,,,, 16347,fixed_pigmented_erythema,,,,,,,, 16348,ketamine_induced_biliary_dilatation,,,,,,,, 16349,blepharophimosis_intellectual_deficit_syndrome_verloes_type,,,,,,,, 16350,blepharophimosis_intellectual_deficit_syndrome_mkb_type,,,,,,,, 16351,pycr1_related_debarsy_syndrome,,,,,,,Q87.8, 16352,ulnar_hemimelia_unilateral,,,,,,,Q71.5, 16353,ulnar_hemimelia_bilateral,,,,,,,Q71.5, 16354,tibial_hemimelia_bilateral,,,,,,,Q72.5, 16355,tibial_hemimelia_unilateral,,,,,,,Q72.5, 16356,fibular_hemimelia_bilateral,,,,,,,Q72.6, 16357,fibular_hemimelia_unilateral,,,,,,,Q72.6, 16358,congenital_absence_of_upper_arm_and_forearm_with_hand_present_bilateral,,,,,,,Q71.1, 16359,congenital_absence_of_upper_arm_and_forearm_with_hand_present_unilateral,,,,,,,Q71.1, 16360,amelia_of_lower_limb_bilateral,,,,,,,Q72.0, 16361,amelia_of_lower_limb_unilateral,,,,,,,Q72.0, 16362,humeral_agenesis_hypoplasia_bilateral,,,,,,,Q71.8, 16363,humeral_agenesis_hypoplasia_unilateral,,,,,,,Q71.8, 16364,femoral_agenesis_hypoplasia_bilateral,,,,,,,Q72.4, 16365,femoral_agenesis_hypoplasia_unilateral,,,,,,,Q72.4, 16366,radial_hemimelia_bilateral,,,,,,,Q71.4, 16367,radial_hemimelia_unilateral,,,,,,,Q71.4, 16368,patella_aplasia_hypoplasia_unilateral,,,,,,,Q74.1, 16369,patella_aplasia_hypoplasia_bilateral,,,,,,,Q74.1, 16370,macrodactyly_of_fingers,,,,,,,Q74.0, 16371,macrodactyly_of_toes,,,,,,,Q74.2, 16372,upper_limb_hypertrophy,,,,,,,Q74.0, 16373,lower_limb_hypertrophy,,,,,,,Q74.2, 16374,amelia_of_upper_limb_unilateral,,,,,,,Q71.0, 16375,amelia_of_upper_limb_bilateral,,,,,,,Q71.0, 16376,congenital_pseudoarthrosis_of_the_fibula,,,,,,,Q74.2, 16377,congenital_pseudoarthrosis_of_the_radius,,,,,,,Q74.0, 16378,congenital_pseudoarthrosis_of_the_ulna,,,,,,,Q74.0, 16379,tibio_fibular_synostosis,,,,,,,Q74.2, 16380,congenital_shoulder_dislocation,,,,,,,Q68.8, 16381,congenital_elbow_dislocation,,,,,,,Q68.8, 16382,congenital_knee_dislocation,,,,,,,Q68.2, 16383,syndactyly_type_6,,,,,,,Q70, 16384,central_polydactyly_of_toes,,,,,,,Q69.2, 16385,postaxial_polydactyly_of_toes,,,,,,,Q69.2, 16386,preaxial_polydactyly_of_toes,,,,,,,Q69.2, 16387,congenital_pseudoarthrosis_of_the_femur,,,,,,,Q74.2, 16388,congenital_pseudoarthrosis_of_the_tibia,,,,,,,Q74.2, 16389,camptodactyly_of_fingers,,,,,,,Q68.1, 16390,familial_isolated_clinodactyly_of_fingers,,,,,,,Q68.1, 16391,brachydactyly_of_fingers,,,,,,,Q71.8, 16392,split_foot,,,,,,,Q72.7, 16393,split_hand,split_hand,,,,,,Q71.6, 16394,congenital_absence_hypoplasia_of_fingers_excluding_thumb,,,,,,,Q71.3, 16395,central_polydactyly_of_fingers,,,,,,,Q69.0, 16396,hyperphalangy,,,,,,,Q74.0, 16397,constriction_rings_syndrome,,,,,,,Q79.8, 16398,brachydactyly_of_toes,,,,,,,Q72.8, 16399,congenital_absence_of_thigh_and_lower_leg_with_foot_present,,,,,,,Q72.1, 16400,congenital_absence_of_both_forearm_and_hand,,,,,,,Q71.2, 16401,humeral_agenesis_hypoplasia,,,,,,,Q71.8, 16402,congenital_absence_of_upper_arm_and_forearm_with_hand_present,,,,,Q71.1,,Q71.1, 16403,apodia,apodia,,,,,,Q72.3, 16404,congenital_absence_hypoplasia_of_thumb,,,,,,,Q71.3, 16405,congenital_absence_of_both_lower_leg_and_foot,,,,,,,Q72.2, 16406,acheiria,acheiria,,,,,,Q71.3, 16407,amelia_of_lower_limb,,,,,,,Q72.0, 16408,amelia_of_upper_limb,,,,,,,Q71.0, 16409,atypical_glycine_encephalopathy,,,,,,,E72.5, 16410,transient_hyperammonemia_of_the_newborn,transient_hyperammonemia_of_the_newborn,,,,,,P74.8, 16411,lymphoepithelial_like_carcinoma,,,,,,,, 16412,myopericytoma,myopericytoma,,,,,,, 16413,epstein_barr_virus_positive_diffuse_large_b_cell_lymphoma_of_the_elderly,,,,,,,C83.3, 16414,plasmablastic_lymphoma,,,,,,,C83.3, 16415,neonatal_glycine_encephalopathy,,,,,,,E72.5, 16416,infantile_glycine_encephalopathy,,,,,,,E72.5, 16417,fatal_multiple_mitochondrial_dysfunction_syndrome,,,,,,,, 16418,neurodegeneration_with_brain_iron_accumulation_due_to_c19orf12_mutation,,,,,,,G23.0, 16419,dysmorphism_conductive_hearing_loss_heart_defect,,,,,,,Q87.8, 16420,inherited_isolated_adrenal_insufficiency_due_to_cyp11a1_deficiency,,,,,,,, 16421,bap1_related_tumor_predisposition_syndrome,,,,,,,, 16422,juvenile_nasopharyngeal_angiofibroma,,,,,,,D10.6, 16423,exfoliative_ichthyosis,,,,,,,Q80.8, 16424,methylmalonic_acidemia_without_homocystinuria,,,,,,,E71.1, 16425,grayson_wilbrandt_corneal_dystrophy,,,,,,,H18.5, 16426,epithelial_recurrent_erosion_dystrophy,,,,,,,H18.5, 16427,pre_descemet_corneal_dystrophy,,,,,,,H18.5, 16428,x_linked_endothelial_corneal_dystrophy,x-linked_endothelial_corneal_dystrophy,,,,,,H18.5, 16429,familial_clubfoot_due_to_5q31_microdeletion,,,,,,,Q66.8, 16430,familial_mitral_valve_prolapse,,,,,,,Q23.3,233858000 16431,acute_generalized_exanthematous_pustulosis,acute_generalized_exanthematous_pustulosis,,,,,,, 16432,pleomorphic_undifferentiated_sarcoma,pleomorphic_undifferentiated_sarcoma,,,,,,C49.9, 16433,tetrahydrobiopterin_responsive_hyperphenylalaninemia_phenylketonuria,,,,,,,E70.1, 16434,celiac_trunk_compression_syndrome,,,,,,,I77.4, 16435,pyruvate_dehydrogenase_e3_deficiency,,,,,,,E74.4, 16436,rasmussen_subacute_encephalitis,,,,,,C535291,G04.8,230191005 16437,non_rhizomelic_chondrodysplasia_punctata,,,,,,,Q77.3, 16438,acute_annular_outer_retinopathy,,,,,,,, 16439,glycerol_kinase_deficiency_adult_form,,,,,,,E74.8, 16440,glycogen_storage_disease_due_to_lactate_dehydrogenase_h_subunit_deficiency,,,,,,,E74.0, 16441,neonatal_marfan_syndrome,,,,,,,Q87.4, 16442,extracranial_embryonal_carcinoma,,,,,,,, 16443,infective_dermatitis_associated_with_htlv_1,,,,,,,L30.3, 16444,hypermethioninemia_encephalopathy_due_to_adenosine_kinase_deficiency,,,,,,,E72.1, 16445,early_onset_epileptic_encephalopathy_and_intellectual_deficit_due_to_grin2a_mutation,,,,,,,E72.1, 16446,developmental_delay_due_to_methylmalonate_semialdehyde_dehydrogenase_deficiency,,,,,,,E71.1, 16447,combined_malonic_and_methylmalonic_acidemia,,,,,,,E71.1, 16448,congenital_cataract_microcornea_with_corneal_opacity,,,,,,,, 16449,microtriplication_11q241,,,,,,,Q99.8, 16450,12q15q211_microdeletion_syndrome,,,,,,,Q93.5, 16451,isolated_adermatoglyphia,,,,,,,, 16452,malignancy_diagnosed_during_pregnancy,,,,,,,, 16453,intellectual_deficit_alacrima_achalasia,,,,,,,, 16454,pyoderma_gangrenosum_acne_suppurative_hidradenitis,,,,,,,, 16455,idiopathic_panuveitis,,,,,,,H44.1, 16456,idiopathic_posterior_uveitis,,,,,,,, 16457,idiopathic_anterior_uveitis,,,,,,,H20, 16458,acral_self_healing_collodion_baby,,,,,,,Q80.2, 16459,familial_progressive_hyper_and_hypopigmentation,,,,,,,L81.8, 16460,multiple_congenital_anomalies_hypotonia_seizures_syndrome,,,,,,,Q87.8, 16461,hemoglobinopathy_toms_river,,,,,,,D58.2, 16462,congenital_muscular_dystrophy_due_to_phosphatidyl_choline_biosynthesis_defect,,,,,,,G71.2, 16463,occipital_pachygyria_and_polymicrogyria,,,,,,,Q04.3, 16464,autosomal_recessive_nail_dysplasia,,,,,,,Q84.6, 16465,acrodysostosis_with_multiple_hormone_resistance,,,,,,,Q75.4, 16466,cutaneous_collagenous_vasculopathy,,,,,,,, 16467,bullous_diffuse_cutaneous_mastocytosis,,,,,,,Q82.2, 16468,pseudoxanthomatous_diffuse_cutaneous_mastocytosis,,,,,,,Q82.2, 16469,intralobar_congenital_pulmonary_sequestration,,,,,,,Q33.2, 16470,moyamoya_disease_short_stature_facial_dysmorphism_hypergonadotropic_hypogonadism,,,,,,,, 16471,generalized_essential_telangiectasia,generalized_essential_telangiectasia,,,,,,, 16472,congenital_pulmonary_airway_malformation_type_2,,,,,,,Q33.0, 16473,congenital_pulmonary_airway_malformation_type_3,,,,,,,Q33.0, 16474,congenital_pulmonary_airway_malformation_type_4,,,,,,,Q33.0, 16475,extralobar_congenital_pulmonary_sequestration,,,,,,,Q33.2, 16476,communicating_congenital_bronchopulmonary_foregut_malformation,,,,,,,Q33.2, 16477,congenital_pulmonary_airway_malformation_type_0,,,,,,,Q33.0, 16478,congenital_pulmonary_airway_malformation_type_1,,,,,,,Q33.0, 16479,craniosynostosis_and_dental_anomalies,,,,,,,Q87.0, 16480,larsen_like_syndrome_b3gat3_type,,,,,,,, 16481,xp2213p222_duplication_syndrome,,,,,,,Q99.8, 16482,10p1121p1231_microdeletion_syndrome,,,,,,,Q83.5, 16483,8q2111_microdeletion_syndrome,,,,,,,Q93.5, 16484,familial_retinal_arterial_macroaneurysm,,,,,,,, 16485,autosomal_dominant_charcot_marie_tooth_disease_type_2o,,,,,,,G60.0, 16486,autosomal_recessive_cerebellar_ataxia_psychomotor_retardation,,,,,,,, 16487,immunoglobulin_g4_related_sclerosing_disease,,,,,,,, 16488,childhood_onset_autosomal_recessive_slowly_progressive_spinocerebellar_ataxia,,,,,,,G11.1, 16489,autosomal_recessive_cerebellar_ataxia_epilepsy_intellectual_deficit,,,,,,,, 16490,adult_onset_autosomal_recessive_cerebellar_ataxia,,,,,,,G11.2, 16491,infantile_onset_autosomal_recessive_nonprogressive_cerebellar_ataxia,,,,,,,G11.0, 16492,pontocerebellar_hypoplasia_type_7,,,,,,,, 16493,reversible_cerebral_vasoconstriction_syndrome,reversible_cerebral_vasoconstriction_syndrome,,,,,,, 16494,fetal_lung_interstitial_tumor,,,,,,,, 16495,glycerol_kinase_deficiency_infantile_form,,,,,,,E74.8, 16496,glycerol_kinase_deficiency_juvenile_form,,,,,,,E74.8, 16497,well_differentiated_fetal_adenocarcinoma_of_the_lung,,,,,,,C34, 16498,small_cell_carcinoma_of_the_bladder,,,,,,,C67, 16499,high_bone_mass_osteogenesis_imperfecta,,,,,,,, 16500,gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach,,,,,,,, 16501,idiopathic_linear_interstitial_keratitis,,,,,,,H16.3, 16502,contractures_webbed_neck_micrognathia_hypoplastic_nipples_syndrome,,,,,,,, 16503,2q231_microduplication_syndrome,,,,,,,Q92.3, 16504,pens_syndrome,,,,,,,, 16505,epstein_barr_virus_associated_gastric_carcinoma,,,,,,,C16, 16506,congenital_pancreatic_cyst,,,,,Q45.2,,Q45.2, 16507,developmental_and_speech_delay_due_to_sox5_deficiency,,,,,,,, 16508,12p121_microdeletion_syndrome,,,,,,,Q93.5, 16509,fgfr2_related_bent_bone_dysplasia,,,,,,,, 16510,infantile_cerebellar_retinal_degeneration,,,,,,,, 16511,familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome,,,,,,,, 16512,coats_disease,coats_plus,,,,,,H35.0, 16513,optic_nerve_edema_splenomegaly_syndrome,,,,,,,, 16514,20p13_microdeletion_syndrome,,,,,,,Q93.5, 16515,early_onset_spastic_ataxia_neuropathy_syndrome,,,,,,,G11.8, 16516,autosomal_recessive_spastic_ataxia_with_leukoencephalopathy,,,,,,,G11.8, 16517,growing_teratoma_syndrome,,,,,,,, 16518,intellectual_deficit_hypotonia_brachycephaly_pyloric_stenosis_cryptorchidism_syndrome,,,,,,,, 16519,autosomal_recessive_leukoencephalopathy_with_ischemic_stroke_retinitis_pigmentosa_syndrome,,,,,,,, 16520,distal_tetrasomy_15q,,,,,,,Q99.8, 16521,15q_overgrowth_syndrome,,,,,,,Q87.3, 16522,young_adult_onset_distal_hereditary_motor_neuropathy,,,,,,,G12.2, 16523,primary_progressive_apraxia_of_speech,,,,,,,, 16524,craniofacial_dysplasia_osteopenia_syndrome,,,,,,,, 16525,atypical_meigs_syndrome,,,,,,,, 16526,pseudo_meigs_syndrome,,,,,,,, 16527,ovarian_fibrothecoma,,,,,,,, 16528,ovarian_fibroma,ovarian_fibroma,,,,,,, 16529,spigelian_hernia_cryptorchidism_syndrome,,,,,,,, 16530,meigs_syndrome,meigs_syndrome,,,,,,, 16531,short_stature_onychodysplasia_facial_dysmorphism_hypotrichosis_syndrome,,,,,M79.9,,, 16532,autosomal_dominant_aplasia_and_myelodysplasia,,,,,,,, 16533,cerebellar_ataxia_deafness_narcolepsy_syndrome,,,,,,,, 16534,chronic_diarrhea_due_to_guanylate_cyclase_2c_overactivity,,,,,,,P78.3, 16535,intestinal_obstruction_in_the_newborn_due_to_guanylate_cyclase_2c_deficiency,,,,,P76.8,,P76.0, 16536,xq12_q133_duplication_syndrome,,,,,,,Q99.8, 16537,7p221_microduplication_syndrome,,,,,,,Q92.3, 16538,marfanoid_habitus_inguinal_hernia_advanced_bone_age,,,,,,,, 16539,leukoencephalopathy_thalamus_and_brainstem_anomalies_high_lactate,,,,,,,, 16540,manganese_poisoning,manganese_poisoning,,,,,,T57.2, 16541,hemiparkinsonism_hemiatrophy_syndrome,,,,,,,, 16542,cyanide_induced_parkinsonism,,,,,,,, 16543,carbon_monoxide_induced_parkinsonism,,,,,,,G21.2, 16544,hemidystonia_hemiatrophy_syndrome,,,,,,,, 16545,primary_dystonia_dyt21_type,,,,,,,, 16546,autism_epilepsy_syndrome_due_to_branched_chain_ketoacid_dehydrogenase_kinase_deficiency,,,,,,,E71.1, 16547,hypotrichosis_osteolysis_periodontitis_palmoplantar_keratoderma_syndrome,,,,,,,Q82.8, 16548,focal_acral_hyperkeratosis,focal_acral_hyperkeratosis,,,,,,Q82.8, 16549,combined_pancreatic_lipase_colipase_deficiency,,,,,,,K90.3, 16550,pancreatic_triacylglycerol_lipase_deficiency,,,,,,,K90.3, 16551,pancreatic_colipase_deficiency,,,,,,,K90.3, 16552,generalized_galactose_epimerase_deficiency,,,,,,,E74.2, 16553,erythrocyte_galactose_epimerase_deficiency,,,,,,,E74.2, 16554,glycogen_storage_disease_due_to_acid_maltase_deficiency_adult_onset,,,,,,,E74.0, 16555,glycogen_storage_disease_due_to_acid_maltase_deficiency_juvenile_onset,,,,,,,E74.0, 16556,glycogen_storage_disease_due_to_acid_maltase_deficiency_infantile_onset,,,,,,,E74.0, 16557,metachromatic_leukodystrophy_adult_form,,,,,,,E75.2, 16558,alpha_mannosidosis_infantile_form,,,,,,,E77.1, 16559,alpha_mannosidosis_adult_form,,,,,,,E77.1, 16560,metachromatic_leukodystrophy_late_infantile_form,,,,,,,E75.2, 16561,metachromatic_leukodystrophy_juvenile_form,,,,,,,E75.2, 16562,tay_sachs_disease_b_variant_juvenile_form,,,,,,,E75.0, 16563,tay_sachs_disease_b_variant_infantile_form,,,,,,,E75.0, 16564,tay_sachs_disease_b1_variant,,,,,,,E75.0, 16565,tay_sachs_disease_b_variant_adult_form,,,,,,,E75.0, 16566,autosomal_recessive_infantile_hypercalcemia,,,,,,,, 16567,follicular_cholangitis_and_pancreatitis,,,,,,,, 16568,combined_pulmonary_fibrosis_emphysema_syndrome,combined_pulmonary_fibrosis_and_emphysema,,,,,,J84.1, 16569,cortical_dysgenesis_with_pontocerebellar_hypoplasia_due_to_tubb3_mutation,,,,,,,Q04.3, 16570,multiple_congenital_anomalies_hypotonia_seizures_syndrome_type_2,,,,,,,Q87.8, 16571,onychomatricoma,onychomatricoma,,,,,,, 16572,diffuse_large_b_cell_lymphoma_of_the_central_nervous_system,,,,,,,C83.3, 16573,primary_cutaneous_anaplastic_large_cell_lymphoma,primary_cutaneous_anaplastic_large_cell_lymphoma,,,,,,C86.6, 16574,t_cell_histiocyte_rich_large_b_cell_lymphoma,,,,,,,C83.3, 16575,splenic_diffuse_red_pulp_lymphoma,,,,,,,, 16576,alk_positive_anaplastic_large_cell_lymphoma,,,,,C84.6,,C83.3, 16577,diffuse_large_b_cell_lymphoma_with_chronic_inflammation,,,,,C83.3,,C83.3, 16578,alk_negative_anaplastic_large_cell_lymphoma,,,,,C84.7,,C83.3, 16579,congenital_sucrase_isomaltase_deficiency_with_starch_intolerance,,,,,,,E74.3, 16580,acquired_adult_onset_immunodeficiency,,,,,,,, 16581,congenital_sucrase_isomaltase_deficiency_without_starch_intolerance,,,,,,,E74.3, 16582,congenital_sucrase_isomaltase_deficiency_with_minimal_starch_tolerance,,,,,,,E74.3, 16583,fadd_related_immunodeficiency,,,,,,,, 16584,myospherulosis,myospherulosis,,,,,,, 16585,congenital_hereditary_facial_paralysis_with_variable_hearing_loss,,,,,,,Q87.0, 16586,isolated_hereditary_congenital_facial_paralysis,,,,,,,Q87.0, 16587,lamb_2_related_infantile_onset_nephrotic_syndrome,,,,,,,N04, 16588,congenital_nephrotic_syndrome_interstitial_lung_disease_epidermolysis_bullosa_syndrome,,,,,,,, 16589,congenital_sucrase_isomaltase_deficiency_with_starch_and_lactose_intolerance,,,,,,,E74.3, 16590,congenital_sucrase_isomaltase_deficiency_without_sucrose_intolerance,,,,,,,E74.3, 16591,x_linked_complicated_spastic_paraplegia_type_1,,,,,,,, 16592,autosomal_dominant_childhood_onset_cortical_cataract,,,,,,,H26.0, 16593,primary_microcephaly_epilepsy_permanent_neonatal_diabetes_syndrome,,,,,,,, 16594,congenital_absence_of_thigh_and_lower_leg_with_foot_present_bilateral,,,,,,,Q72.1, 16595,congenital_absence_of_thigh_and_lower_leg_with_foot_present_unilateral,,,,,Q72.1,,Q72.1, 16596,congenital_absence_of_both_forearm_and_hand_bilateral,,,,,,,Q71.2, 16597,congenital_absence_of_both_forearm_and_hand_unilateral,,,,,Q71.2,,Q71.2, 16598,congenital_absence_of_both_lower_leg_and_foot_bilateral,,,,,,,Q72.2, 16599,congenital_absence_of_both_lower_leg_and_foot_unilateral,,,,,Q72.2,,Q72.2, 16600,acheiria_bilateral,,,,,,,Q71.3, 16601,acheiria_unilateral,,,,,,,Q71.3, 16602,apodia_bilateral,,,,,,,Q72.3, 16603,apodia_unilateral,,,,,,,Q72.3, 16604,congenital_absence_hypoplasia_of_thumb_bilateral,,,,,,,Q71.3, 16605,congenital_absence_hypoplasia_of_thumb_unilateral,,,,,,,Q71.3, 16606,adactyly_of_foot_unilateral,,,,,,,Q72.3, 16607,congenital_absence_hypoplasia_of_fingers_excluding_thumb_bilateral,,,,,,,Q71.3, 16608,split_hand_unilateral,,,,,,,Q71.6, 16609,adactyly_of_foot_bilateral,,,,,,,Q72.3, 16610,split_hand_bilateral,,,,,,,Q71.6, 16611,split_foot_unilateral,,,,,,,Q72.7, 16612,split_foot_bilateral,,,,,Q72.7,,Q72.7, 16613,brachydactyly_of_fingers_unilateral,,,,,,,Q71.8, 16614,brachydactyly_of_fingers_bilateral,,,,,,,Q71.8, 16615,brachydactyly_of_toes_unilateral,,,,,,,Q72.8, 16616,brachydactyly_of_toes_bilateral,,,,,,,Q72.8, 16617,symbrachydactyly_of_hand_and_foot_unilateral,,,,,,,Q73.8, 16618,symbrachydactyly_of_hand_and_foot_bilateral,,,,,,,Q73.8, 16619,hyperphalangy_unilateral,,,,,,,Q74.0, 16620,hyperphalangy_bilateral,,,,,,,Q74.0, 16621,polydactyly_of_the_thumb_unilateral,,,,,,,Q69.1, 16622,polydactyly_of_the_thumb_bilateral,,,,,,,Q69.1, 16623,polydactyly_of_a_triphalangeal_thumb_unilateral,,,,,,,Q69.1, 16624,polydactyly_of_a_triphalangeal_thumb_bilateral,,,,,,,Q69.1, 16625,polydactyly_of_an_index_finger_unilateral,,,,,,,Q69.0, 16626,postaxial_polydactyly_type_a_unilateral,,,,,,,Q69.0, 16627,polysyndactyly_bilateral,,,,,,,Q70.4, 16628,polysyndactyly_unilateral,,,,,Q70.4,,Q70.4, 16629,polydactyly_of_an_index_finger_bilateral,,,,,,,Q69.0, 16630,central_polydactyly_of_fingers_unilateral,,,,,,,Q69.0, 16631,postaxial_polydactyly_type_b_bilateral,,,,,,,Q69.0, 16632,postaxial_polydactyly_type_b_unilateral,,,,,,,Q69.0, 16633,postaxial_polydactyly_type_a_bilateral,,,,,,,Q69.0, 16634,postaxial_polydactyly_of_toes_unilateral,,,,,,,Q69.2, 16635,preaxial_polydactyly_of_toes_bilateral,,,,,,,Q69.2, 16636,preaxial_polydactyly_of_toes_unilateral,,,,,,,Q69.2, 16637,central_polydactyly_of_fingers_bilateral,,,,,,,Q69.0, 16638,zygodactyly_type_1,,,,,,,Q70.3, 16639,central_polydactyly_of_toes_bilateral,,,,,,,Q69.2, 16640,central_polydactyly_of_toes_unilateral,,,,,,,Q69.2, 16641,postaxial_polydactyly_of_toes_bilateral,,,,,,,Q69.2, 16642,zygodactyly_type_4,,,,,,,Q70.3, 16643,zygodactyly_type_2,,,,,,,Q70, 16644,zygodactyly_type_3,,,,,,,Q70, 16645,congenital_vertical_talus_unilateral,,,,,,,Q66.8, 16646,congenital_vertical_talus_bilateral,,,,,,,Q66.8, 16647,synpolydactyly_type_3,,,,,,,Q70, 16648,humero_radial_synostosis_unilateral,,,,,,,Q74.0, 16649,humero_radial_synostosis_bilateral,,,,,,,Q74.0, 16650,humero_radio_ulnar_synostosis_unilateral,,,,,,,Q74.0, 16651,humero_radio_ulnar_synostosis_bilateral,,,,,,,Q74.0, 16652,radio_ulnar_synostosis_unilateral,,,,,,,Q74.0, 16653,radio_ulnar_synostosis_bilateral,,,,,,,Q74.0, 16654,humero_ulnar_synostosis_unilateral,,,,,,,Q74.0, 16655,humero_ulnar_synostosis_bilateral,,,,,,,Q74.0, 16656,congenital_genu_flexum,,,,,,,Q68.2, 16657,congenital_genu_recurvatum,,,,,,,Q68.2, 16658,congenital_patella_dislocation_bilateral,,,,,,,Q74.1, 16659,congenital_patella_dislocation_unilateral,,,,,,,Q74.1, 16660,madelung_deformity_bilateral,,,,,,,Q74.0, 16661,madelung_deformity_unilateral,,,,,,,Q74.0, 16662,congenital_elbow_dislocation_bilateral,,,,,,,Q68.8, 16663,congenital_elbow_dislocation_unilateral,,,,,,,Q68.8, 16664,macrodactyly_of_fingers_bilateral,,,,,,,Q74.0, 16665,macrodactyly_of_fingers_unilateral,,,,,,,Q74.0, 16666,macrodactyly_of_toes_bilateral,,,,,,,Q74.2, 16667,macrodactyly_of_toes_unilateral,,,,,,,Q74.2, 16668,ehlers_danlos_syndrome_kyphoscoliotic_and_deafness_type,,,,,,,Q79.6, 16669,autosomal_dominant_charcot_marie_tooth_disease_type_2p,,,,,,,G60.0, 16670,persistent_polyclonal_b_cell_lymphocytosis,persistent_polyclonal_b-cell_lymphocytosis,,,,,,, 16671,congenital_cataract_hearing_loss_severe_developmental_delay_syndrome,,,,,,,, 16672,severe_congenital_hypochromic_anemia_with_ringed_sideroblasts,,,,,,,D64.0, 16673,11p154_microduplication_syndrome,,,,,,,Q92.3, 16674,infantile_regressive_hypertriglyceridemia_and_hepatosteatosis,,,,,,,, 16675,sagliker_syndrome,,,,,,,, 16676,familial_infantile_gigantism,,,,,,,, 16677,progeroid_and_marfanoid_aspect_lipodystrophy_syndrome,,,,,,,, 16678,autosomal_recessive_systemic_lupus_erythematosus,,,,,,,M32.8, 16679,plcg2_associated_antibody_deficiency_and_immune_dysregulation,,,,,,,L50.2, 16680,congenital_blindness_due_to_retinal_nonattachment,,,,,,,H33.2, 16681,polyneuropathy_associated_with_igm_monoclonal_gammopathy_with_anti_mag,,,,,,,G61.8, 16682,lyell_syndrome,,,,,,,L51.2, 16683,bronchiolitis_obliterans_with_obstructive_pulmonary_disease,,,,,,,J44.8, 16684,common_mesentery,,,,,,,Q43.3, 16685,congenital_narrowing_of_cervical_spinal_canal,,,,,,,Q06.8, 16686,amoebiasis_due_to_free_living_amoebae,,,,,A06|A06.9,,B60.1|B60.2, 16687,ankylostomiasis,ankylostomiasis,,,,,D000724|D006725,B76,105694003|63479002 16688,graham_little_piccardi_lassueur_syndrome,,,,,,,L66.1, 16689,estrogen_resistance_syndrome,,,,,,,, 16690,stuccokeratosis,stuccokeratosis,,,,,,, 16691,porokeratosis_plantaris_palmaris_and_disseminata,,,,,,,Q82.8, 16692,palmoplantar_porokeratosis_of_mantoux,,,,,,,, 16693,erythroderma_desquamativa,,,,,,,L21.1, 16694,familial_keratoacanthoma,,,,,,,L85.8, 16695,keratosis_pilaris_atrophicans,keratosis_pilaris_atrophicans,,,,,,,400059005 16696,digestive_duplication,,,,,,,Q45.8, 16697,congenital_primary_megaureter,,,,,Q62.2,,Q62.2, 16698,atresia_of_urethra,,,,,,,Q64.3,253902002 16699,alpha_delta_granule_deficiency,,,,,,,D69.1, 16700,disorder_in_the_hormonal_synthesis_with_or_without_goiter,,,,,,,, 16701,criss_cross_heart,,,,,,,Q24.8,253269002 16702,heart_tumor_of_the_child,heart_tumor_of_the_child,,,,,,, 16703,adult_heart_tumor,heart_tumor_of_the_adult,,,,,,, 16704,familial_idiopathic_dilatation_of_the_right_atrium,,,,,,,Q20.8, 16705,pili_bifurcati,pili_bifurcati,,,,,,L67.8, 16706,pili_canulati,pili_canulati,,,,,,L67.8, 16707,proliferating_trichilemmal_cyst,proliferating_trichilemmal_cyst,,,,,,L72.1, 16708,palmoplantar_keratoderma_sclerodactyly_syndrome,,,,,,,Q82.8, 16709,dyschromatosis_universalis,dyschromatosis_universalis,,,,,,L81.8,239082002 16710,digitalis_poisoning,,,,,,,T46.0, 16711,ethylene_glycol_poisoning,ethylene_glycol_poisoning,,,,,,T52.8,426692001 16712,paraquat_poisoning,,,,,,,T60.3, 16713,colchicine_poisoning,,,,,,,, 16714,methanol_poisoning,,,,,,,T51.1, 16715,oral_erosive_lichen,,,,,,,, 16716,auriculoocular_anomalies_cleft_lip,,,,,,,Q87.0, 16717,split_hand_split_foot_deafness,,,,,,,Q87.2, 16718,renal_nutcracker_syndrome,,,,,,,, 16719,disseminated_peritoneal_leiomyomatosis,,,,,,,D20.1, 16720,silent_sinus_syndrome,silent_sinus_syndrome,,,,,,, 16721,dentinogenesis_imperfecta_short_stature_hearing_loss_intellectual_deficit,,,,,,,, 16722,retinal_cavernous_hemangioma,,,,,,,D18.0, 16723,benign_exophthalmos_syndrome,,,,,C85.1,,H05.2, 16724,chronic_thromboembolic_pulmonary_hypertension,,,,,,,,233947005 16725,congenital_epstein_barr_virus_infection,,,,,,,P35.8, 16726,immunodeficiency_due_to_selective_anti_polysaccharide_antibody_deficiency,,,,,,,D80.8, 16727,adult_acute_respiratory_distress_syndrome,,,,,,,J80, 16728,infant_acute_respiratory_distress_syndrome,,,,,,,P22.0, 16729,leigh_syndrome_with_cardiomyopathy,,,,,,,G31.8, 16730,radiation_proctitis,radiation_proctitis,,,,K62.7,,K62.7,235760009 16731,circumscribed_palmoplantar_hypokeratosis,,,,,,,, 16732,warty_dyskeratoma,warty_dyskeratoma,,,,,,,22524002|254676008 16733,acute_bilateral_depigmentation_of_the_iris,,,,,,,, 16734,anonychia_with_flexural_pigmentation,,,,,Q84.3,,, 16735,odonto_tricho_ungual_digito_palmar_syndrome,,,,,,,, 16736,idiopathic_steroid_sensitive_nephrotic_syndrome,,,,,,,N04, 16737,membranous_congenital_glomerulonephritis_due_to_anti_maternal_neutral_endopeptidase_alloimmunisation,,,,,,,, 16738,3_methylglutaconic_aciduria_type_4,,,,,,,E71.1,297233004 16739,acanthamoeba_keratitis,acanthamoeba_keratitis,,,,,D015823,B60.1+|H19.2*,231896005 16740,segmental_odontomaxillary_dysplasia,segmental_odontomaxillary_dysplasia,,,,,,K00.4, 16741,b_cell_chronic_lymphocytic_leukemia,b-cell_chronic_lymphocytic_leukemia,,,,C91.1,D015451,C91.1,277473004|51092000|92814006 16742,sensorineural_hearing_loss_early_greying_essential_tremor,,,,,,,, 16743,congenital_pseudoarthrosis_of_clavicle,,,,,,,Q74.0,70794004 16744,obesity_due_to_congenital_leptin_deficiency,,,,,,,E66.8, 16745,cerebro_oculo_nasal_syndrome,,,,,,,Q87.0, 16746,tako_tsubo_cardiomyopathy,takotsubo_cardiomyopathy,,,,,,I42.8, 16747,short_fifth_metacarpals_insulin_resistance,,,,,,,E11, 16748,3q29_microdeletion_syndrome,3q29_microdeletion_syndrome,,,,,,Q93.5, 16749,vaginal_atresia,vaginal_atresia,,,,,,Q52.0,87380008 16750,arthrogryposis_severe_scoliosis,,,,,,,, 16751,multiple_keratoacanthoma_ferguson_smith_type,,,,,,,D23, 16752,autosomal_dominant_multiple_pterygium_syndrome,,,,,,,Q79.8, 16753,riedel_thyroiditis,,,,,,,E06.5,89024000 16754,autosomal_dominant_charcot_marie_tooth_disease_type_2,,,,,,,G60.0, 16755,nevus_comedonicus_syndrome,nevus_comedonicus_syndrome,,,,,,Q82.5,35962006 16756,benign_idiopathic_neonatal_seizures,,,,,,,G40.4, 16757,autosomal_recessive_acrofacial_dysostosis,,,,,,,Q75.4, 16758,granulomatous_mastitis,granulomatous_mastitis,,,,,D058890,N60.8,237444008 16759,hepatoportal_sclerosis,,,,,,,, 16760,recurrent_acute_pancreatitis,,,,,,,K85,197458008 16761,distal_myopathy_with_posterior_leg_and_anterior_hand_involvement,,,,,,,G71.0, 16762,paraneoplastic_pemphigus,paraneoplastic_pemphigus,,,,,,L10.8, 16763,pulmonary_nodular_lymphoid_hyperplasia,,,,,,,, 16764,argyria,argyria,,,,,D001129,T56.8,255636009|66994003|77783001 16765,cirrhotic_cardiomyopathy,,,,,,,I42.8, 16766,aseptic_osteitis,,,,,,,, 16767,microscopic_colitis,microscopic_colitis,,,,,D046728,K52.8,235753003 16768,mazabraud_syndrome,,,,,,,D21.9|M85.0, 16769,autosomal_dominant_limb_girdle_muscular_dystrophy_type_1f,,,,,,,G71.0, 16770,autosomal_dominant_limb_girdle_muscular_dystrophy_type_1g,,,,,,,G71.0, 16771,hepatocellular_adenoma,hepatocellular_adenoma,,,,,D018248,D13.4,78058005 16772,pneumococcal_meningitis,pneumococcal_meningitis,,,,G00.1,D008586,G00.1,51169003 16773,seizures_intellectual_deficit_due_to_hydroxylysinuria,,,,,,,E72.3, 16774,encephalopathy_due_to_hydroxykynureninuria,,,,,,,E70.8, 16775,2_aminoadipic_2_oxoadipic_aciduria,,,,,,,E72.3, 16776,autosomal_dominant_nail_dysplasia,,,,,,,L60.3, 16777,familial_reactive_perforating_collagenosis,,,,,,,L87.1, 16778,congenital_onychodysplasia,congenital_onychodysplasia_of_the_index_fingers,,,,,,Q84.6, 16779,familial_dupuytren_contracture,,,,,,,M72.0, 16780,mandibulofacial_dysostosis_microcephaly_syndrome,,,,,,,Q87.0, 16781,myxofibrosarcoma,myxofibrosarcoma,,,,,,C49, 16782,interstitial_granulomatous_dermatitis_with_arthritis,,,,,,,, 16783,atrophoderma_vermiculata,atrophoderma_vermiculata,,,,,,L66.4, 16784,grange_syndrome,,,,,,,Q87.8, 16785,folinic_acid_responsive_seizures,,,,,,,, 16786,bickerstaffs_brainstem_encephalitis,,,,,,,G61.0,427086003 16787,cutaneous_neuroendocrine_carcinoma,,,,,,,C44, 16788,hereditary_painful_callosities,hereditary_painful_callosities,,,,,,Q82.8, 16789,episodic_ataxia_type_3_2,,,,,,,G11.8, 16790,episodic_ataxia_type_4,,,,,,,G11.8, 16791,trichodysplasia_amelogenesis_imperfecta,,,,,,,, 16792,sparse_hair_short_stature_skin_anomalies,,,,,,,, 16793,respiratory_bronchiolitis_interstitial_lung_disease,,,,,,,J84.8,129451001 16794,auricular_abnormalities_cleft_lip_with_or_without_cleft_palate_ocular_abnormalities,,,,,,,Q87.0, 16795,monosomy_9q223,,,,,,,Q93.5, 16796,not_notch3_related_small_vessel_disease_of_the_brain,,,,,,,F01.1|I67.8, 16797,juvenile_polyposis_of_infancy,,,,,,,D12.6, 16798,acquired_generalized_lipodystrophy,acquired_generalized_lipodystrophy,,,,,,E88.1,86907008 16799,familial_partial_lipodystrophy_due_to_akt2_mutations,,,,,,,E88.1, 16800,foix_alajouanine_syndrome,,,,,G37.4,,G37.4, 16801,oligocone_trichromacy,,,,,,,, 16802,cystoid_macular_dystrophy,,,,,,,H35.5, 16803,brain_malformation_congenital_heart_disease_postaxial_polydactyly,,,,,,,Q87.8, 16804,immunodeficiency_with_natural_killer_cell_deficiency,,,,,,,D84.8, 16805,ehlers_danlos_syndrome_periodontitis_type,,,,,,,Q79.6, 16806,x_linked_ehlers_danlos_syndrome,,,,,,,Q79.6, 16807,ehlers_danlos_syndrome_fibronectinemic_type,,,,,,,Q79.6, 16808,angio_osteohypotrophic_syndrome,,,,,,,, 16809,tropical_endomyocardial_fibrosis,,,,,,,I42.3, 16810,acquired_idiopathic_sideroblastic_anemia,,,,,,,D64.3, 16811,primary_progressive_freezing_gait,,,,,,,, 16812,sibids_syndrome,,,,,,,Q80.8, 16813,6q_terminal_deletion,,,,,,,Q93.5, 16814,bleeding_diathesis_due_to_a_collagen_receptor_defect,,,,,,,D69.8, 16815,visceral_neuropathy_brain_anomalies_facial_dysmorphism_developmental_delay,,,,,,,Q87.8, 16816,acute_ackee_fruit_intoxication,,,,,,,T62.2, 16817,retinal_arteries_tortuosity,,,,,,,, 16818,cancer_associated_retinopathy,,,,,,,, 16819,benign_paroxysmal_torticollis_of_infancy,,,,,,,, 16820,tubular_renal_disease_cardiomyopathy,,,,,,,N25.8, 16821,spinal_muscular_atrophy_dandy_walker_complex_cataracts,,,,,,,G12.8, 16822,ossification_anomalies_psychomotor_development_delay,,,,,,,Q79.8, 16823,intractable_diarrhea_of_infancy,,,,,,,, 16824,global_developmental_delay_osteopenia_ectodermal_defect,,,,,,,Q87.8, 16825,acquired_kinky_hair_syndrome,,,,,,,L67.8, 16826,autoimmune_hypoparathyroidism,,,,,,,,75316000 16827,glutaric_acidemia_type_3,,,,,,,E72.3,238070003 16828,mitochondrial_dna_depletion_syndrome,,,,,,,E88.8,237995002 16829,aldh18a1_related_debarsy_syndrome,,,,,,,Q87.8, 16830,isolated_brachycephaly,,,,,,,Q75.0, 16831,isolated_plagiocephaly,,,,,,,Q67.3, 16832,distal_monosomy_1q,,,,,,,Q93.5, 16833,familial_cerebral_vascular_accident,,,,,,,, 16834,staphylococcal_scarlet_fever,,,,,,,A49.0, 16835,staphylococcal_necrotizing_pneumonia,,,,,,,J15.2, 16836,bullous_impetigo,bullous_impetigo,,,,,,L01.0,399183005 16837,gastric_linitis_plastica,,,,,,,C16.2, 16838,ovarian_malignant_tumor_of_sex_cord_stromal_origin,,,,,,,C56, 16839,ovarian_germ_cell_malignant_tumor,,,,,,,C56, 16840,acute_opioid_poisoning,,,,,,,T40.0|T40.1|T40.2, 16841,intestinal_lymphangiectasia,,,,,,D008201,I89.0,197260007 16842,5_oxoprolinase_deficiency,,,,,,C535322,E72.8,26132002 16843,meningococcal_meningitis,meningococcal_meningitis,,,,A39.0,D008585,A39.0+|G01*,192644005 16844,neuroectodermal_melanolysosomal_disease,,,,,,C536203,, 16845,bullous_lichen_planus,bullous_lichen_planus,,,,L43.1,,L43.1,6111009 16846,hepatocellular_carcinoma_childhood_onset,,,,,,,C22.0, 16847,jessners_lymphocytic_infiltration_of_the_skin,,,,,,,, 16848,idiopathic_recurrent_and_disabling_cutaneous_herpes,,,,,,,, 16849,idiopathic_cutaneous_and_mucosal_candidiasis,,,,,,,B37, 16850,severe_combined_immunodeficiency_t_b_due_to_jak3_deficiency,,,,,,,D81.2, 16851,fulminant_viral_hepatitis,,,,,,,, 16852,idiopathic_infection_disseminated_by_cytomegalovirus,,,,,,,, 16853,idiopathic_severe_pneumococcemia,,,,,,,A40.3, 16854,lethal_idiopathic_viral_infection,,,,,,,, 16855,distal_myopathy_with_early_respiratory_muscle_involvement,,,,,,,G71.0, 16856,autosomal_dominant_limb_girdle_muscular_dystrophy_type_1d,,,,,,,G71.0, 16857,autosomal_dominant_limb_girdle_muscular_dystrophy_type_1e,,,,,,,G71.0, 16858,malt_lymphoma,,,,,,,C88.4, 16859,ulnar_fibula_ray_defect_brachydactyly,,,,,,,Q73.8, 16860,familial_cutaneous_collagenoma,,,,,,,L94.8,239139000 16861,orbital_leiomyoma,,,,,,,D31.6, 16862,paroxysmal_dystonic_choreathetosis_with_episodic_ataxia_and_spasticity,,,,,,,G24.8, 16863,posterior_cortical_atrophy,posterior_cortical_atrophy,,,,,,G31.1, 16864,myotonic_dystrophy_type_3,,,,,,,G71.1, 16865,intracranial_embryonal_carcinoma,,,,,,,, 16866,focal_myositis,,,,,,,M60.8, 16867,talo_patello_scaphoid_osteolysis,,,,,,,, 16868,microlissencephaly_micromelia,,,,,,,Q04.3, 16869,lipodystrophy_intellectual_deficit_deafness,,,,,,,Q78.8, 16870,zellweger_like_syndrome_without_peroxisomal_anomalies,,,,,,,, 16871,branchiogenic_deafness_syndrome,,,,,,,Q87.8, 16872,spondylometaphyseal_dysplasia_with_combined_immunodeficiency,,,,,,,D81.8, 16873,purpura_fulminans,purpura_fulminans,,,,,D014884|D055665,D65,13507004 16874,torsade_de_pointes_syndrome_with_short_coupling_interval,,,,,,,, 16875,duane_anomaly_myopathy_scoliosis,,,,,,,, 16876,mammary_polyadenomatosis,,,,,,,D24, 16877,craniosynostosis_intracranial_calcifications,,,,,,,Q87.0, 16878,braddock_syndrome,,,,,,,Q87.8, 16879,komar_syndrome,,,,,,,G58.0, 16880,marshalls_syndrome_with_periodic_fever,,,,,,,E85.0, 16881,acute_tricyclic_antidepressant_poisoning,,,,,,,T43.0, 16882,serotonin_syndrome,serotonin_syndrome,,,,,D020230,,371089000 16883,acute_poisoning_by_drugs_with_membrane_stabilizing_effect,,,,,,,, 16884,incessant_infant_ventricular_tachycardia,,,,,,,I47.2,233908008 16885,idiopathic_neonatal_atrial_flutter,,,,,,,I48, 16886,superficial_pemphigus,,,,,,,, 16887,mucous_membrane_pemphigoid,mucous_membrane_pemphigoid,,,,,,L12.1, 16888,bullous_systemic_lupus_erythematosus,,,,,,,M32.8,239889005 16889,lewis_sumner_syndrome,,,,,,,G61.8, 16890,rare_deafness,,,,,,,, 16891,acquired_aneurysmal_subarachnoid_hemorrhage,,,,,,,I60.9, 16892,pneumonia_caused_by_pseudomonas_aeruginosa_infection,,,,,,,J15.1, 16893,cocaine_poisoning,,,,,T40.5,,T40.5, 16894,acute_peripheral_arterial_occlusion,,,,,,,I74.4, 16895,hepatitis_b_re_infection_following_liver_transplantation,,,,,,,, 16896,partial_deep_dermal_and_full_thickness_burns,,,,,,,T30.3, 16897,systemic_monochloroacetate_poisoning,,,,,,,T60.3, 16898,methotrexate_poisoning,,,,,,,T45.1, 16899,recurrent_hepatitis_c_virus_induced_liver_disease_in_liver_transplant_recipients,,,,,,,, 16900,sepsis_in_premature_infants,,,,,,,P36, 16901,diffuse_alveolar_hemorrhage,,,,,,,J98.4, 16902,acute_sensorineural_hearing_loss_by_acute_acoustic_trauma_or_sudden_deafness_or_surgery_induced_acoustic_trauma,,,,,,,H83.3, 16903,hematopoietic_stem_cell_transplantation,hematopoietic_stem_cell_transplantation,,,,,,Z94.8, 16904,moderate_and_severe_traumatic_brain_injury,,,,,,,S06, 16905,rejection_after_corneal_transplantation,,,,,,,T86.8, 16906,cardiomyopathy_renal_anomalies,,,,,,,, 16907,radiation_myelitis,,,,,,,G97.8, 16908,undifferentiated_connective_tissue_syndrome,undifferentiated_connective_tissue_disease,,,,,,,239918008 16909,drug_induced_autoimmune_hemolytic_anemia,drug-induced_autoimmune_hemolytic_anemia,,,,D59.0,,D59.0,309742004 16910,mixed_type_autoimmune_hemolytic_anemia,,,,,,,D59.1, 16911,autoimmune_hemolytic_anemia_warm_type,,,,,,,D59.1,3978000 16912,hemolytic_anemia_due_to_glutathione_reductase_deficiency,,,,,,,D55.1, 16913,centripetalis_recessive_dystrophic_epidermolysis_bullosa,,,,,,,Q81.2, 16914,epidermolysis_bullosa_simplex_superficialis,,,,,,,Q81.0, 16915,x_linked_cone_dysfunction_syndrome_with_myopia,,,,,,,, 16916,hyperkalemic_renal_tubular_acidosis,,,,,,,N25.8,236463002 16917,rosselli_gulienetti_syndrome,,,,,,,, 16918,unclassified_metaphyseal_chondrodysplasia,,,,,,,, 16919,primary_intestinal_lymphangiectasia,primary_intestinal_lymphangiectasia,,,,,C536567,I89.0,6124009 16920,secondary_intestinal_lymphangiectasia,,,,,,,I89.0, 16921,acanthosis_nigricans_insulin_resistance_muscle_cramps_acral_enlargement,,,,,,,, 16922,centrifugal_lipodystrophy,centrifugal_lipodystrophy,,,,,,, 16923,drug_induced_localized_lipodystrophy,,,,,,,E88.1, 16924,pressure_induced_localized_lipoatrophy,,,,,,,, 16925,idiopathic_localized_lipodystrophy,,,,,,,, 16926,panniculitis_and_localized_lipodystrophy,,,,,,,, 16927,discoid_lupus_erythematosus,discoid_lupus_erythematosus,,,,,D008179,L93.0,200938002|238927000 16928,non_hereditary_late_onset_primary_lymphedema,,,,,,,I89.0, 16929,lupus_erythematosus_panniculitis,lupus_erythematosus_panniculitis,,,,,D015435,L93.2,15084002|239888002 16930,maculopapular_lupus_rash,,,,,,,L93.2, 16931,hypertrophic_or_verrucous_lupus_erythematosus,,,,,,,L93.2, 16932,lupus_erythematosus_tumidus,lupus_erythematosus_tumidus,,,,,,L93.2,200941006 16933,scarring_in_glaucoma_filtration_surgical_procedures,,,,,,,H59.8, 16934,anthracycline_extravasations,,,,,,,Y43.2, 16935,invasive_infections_due_to_vancomycin_resistant_enterococci,,,,,,,A04.8|U81.0, 16936,charcot_marie_tooth_disease_deafness_intellectual_deficit,,,,,,,G60.0, 16937,aids_wasting_syndrome,,,,,,,B22.2, 16938,severe_early_onset_axonal_neuropathy_due_to_mfn2_deficiency,,,,,,,G60.0, 16939,autosomal_dominant_intermediate_charcot_marie_tooth_disease,,,,,,,G60.0, 16940,axonal_charcot_marie_tooth_disease_with_acrodystrophy,,,,,,,G60.0, 16941,autosomal_dominant_progressive_nephropathy_with_hypertension,,,,,,,I15.1, 16942,obesity_colitis_hypothyroidism_cardiac_hypertrophy_developmental_delay,,,,,,,, 16943,myopathy_due_to_calsequestrin_and_serca1_protein_overload,,,,,G72.2|G72.8|G72.9|G73.7,,G71.8, 16944,aortic_dilatation_joint_hypermobility_arterial_tortuosity,,,,,,,, 16945,hereditary_palmoplantar_keratoderma_gamborg_nielsen_type,,,,,,,Q82.8, 16946,keratosis_palmaris_et_plantaris_clinodactyly,,,,,,,Q82.8, 16947,lymphedema_cleft_palate,,,,,,,, 16948,diffuse_palmoplantar_keratoderma_acrocyanosis_syndrome,,,,,,,Q82.8, 16949,lymphedema_atrial_septal_defects_facial_changes,,,,,,,Q87.8, 16950,myoclonic_epilepsy_in_non_progressive_encephalopathies,,,,,,,G40.4, 16951,epilepsy_with_myoclonic_absences,,,,,G40|G40.9,,G40.4, 16952,hypothalamic_hamartomas_with_gelastic_seizures,,,,,,,G40.5, 16953,hemiconvulsion_hemiplegia_epilepsy_syndrome,,,,,,,G40.4,230407006 16954,methotrexate_associated_lymphoproliferative_disorders,,,,,,,, 16955,histiocytic_sarcoma,histiocytic_sarcoma,,,,C96.8,D054747,C96.1,109988003|128813000 16956,palmoplantar_keratoderma_with_tonotubular_keratin,,,,,,,, 16957,autosomal_dominant_medullary_cystic_kidney_disease_with_hyperuricemia,,,,,,,Q61.5, 16958,autosomal_dominant_polycystic_kidney_disease_type_1_with_tuberous_sclerosis,,,,,,,, 16959,sporadic_idiopathic_steroid_resistant_nephrotic_syndrome_with_diffuse_mesangial_proliferation,,,,,,,N04.3, 16960,sporadic_idiopathic_steroid_resistant_nephrotic_syndrome_with_minimal_changes,,,,,,,N04.0, 16961,sporadic_idiopathic_steroid_resistant_nephrotic_syndrome_with_diffuse_mesangial_sclerosis,,,,,,,N04.8, 16962,sporadic_idiopathic_steroid_resistant_nephrotic_syndrome_with_focal_segmental_hyalinosis,,,,,,,N04.1, 16963,familial_idiopathic_steroid_resistant_nephrotic_syndrome_with_diffuse_mesangial_proliferation,,,,,,,N04.3, 16964,pfeiffer_syndrome_type_3,,,,,,,Q87.0, 16965,cloverleaf_skull_multiple_congenital_anomalies,,,,,,,Q87.8, 16966,monostotic_fibrous_dysplasia,monostotic_fibrous_dysplasia,,,,,D005358,Q78.1,89859004 16967,renal_dysplasia,renal_dysplasia,,,,,,Q61.4, 16968,renal_hypoplasia,,,,,,,Q60.3|Q60.4|Q60.5, 16969,posterior_urethral_valve,posterior_urethral_valve,,,,,,Q64.2,253900005 16970,congenital_megacalycosis,,,,,,,Q63.8, 16971,unilateral_renal_agenesis,,,,,Q60.0|Q60.1,,Q60.0,55726006 16972,transient_pseudohypoaldosteronism,,,,,,,N15.8, 16973,autosomal_dominant_intermediate_charcot_marie_tooth_disease_type_e,,,,,,,G60.0|N04.1, 16974,pauci_immune_glomerulonephritis,,,,,,,N05.7, 16975,congenital_bilateral_megacalycosis,,,,,,,Q63.8, 16976,partial_prune_belly_syndrome,,,,,,,Q79.4, 16977,unilateral_renal_dysplasia,,,,,,,Q61.4,204951002 16978,bilateral_renal_dysplasia,,,,,Q61.4,,Q61.4,204950001 16979,unilateral_congenital_megacalycosis,,,,,,,Q63.8, 16980,idiopathic_steroid_sensitive_nephrotic_syndrome_with_minimal_change,,,,,,,N04.0, 16981,idiopathic_steroid_sensitive_nephrotic_syndrome_with_diffuse_mesangial_proliferation,,,,,,,N04.3, 16982,idiopathic_steroid_sensitive_nephrotic_syndrome_with_focal_segmental_hyalinosis,,,,,,,N04.1, 16983,radial_hemimelia,,,,,,,Q71.4, 16984,ulnar_hemimelia,,,,,,,Q71.5, 16985,fibular_hemimelia,fibular_hemimelia,,,,,,Q72.6, 16986,polydactyly_of_a_biphalangeal_thumb,,,,,,,Q69.1, 16987,polydactyly_of_an_index_finger,,,,,,,Q69.0, 16988,spondyloepimetaphyseal_dysplasia_irapa_type,,,,,,,Q77.7, 16989,multiple_epiphyseal_dysplasia_unclassified_type,,,,,,,, 16990,congenital_adrenal_hyperplasia_due_to_3_beta_hydroxysteroid_dehydrogenase_deficiency,congenital_adrenal_hyperplasia_due_to_3_beta-hydroxysteroid_dehydrogenase_deficiency,,,,,,E25.0, 16991,scleromyxedema_without_monoclonal_gammopathy,,,,,,,L98.5, 16992,acral_persistent_papular_mucinosis,acral_persistent_papular_mucinosis,,,,,,L98.5,238949006 16993,self_healing_papular_mucinosis,self-healing_papular_mucinosis,,,,,,L98.5, 16994,localized_lichen_myxedematosus_with_mixed_features_of_different_subtypes,,,,,,,L98.5, 16995,localized_lichen_myxedematosus_with_monoclonal_gammopathy_or_systemic_symptoms,,,,,,,L98.5, 16996,nodular_lichen_myxedematosus,nodular_lichen_myxedematosus,,,,,,L98.5, 16997,discrete_papular_lichen_myxedematosus,discrete_papular_lichen_myxedematosus,,,,,,L98.5, 16998,papular_mucinosis_of_infancy,papular_mucinosis_of_infancy,,,,,,L98.5, 16999,mitochondrial_nonsyndromic_sensorineural_deafness,,,,,,,H90.3, 17000,isolated_cryptophthalmia,,,,,,,Q11.2, 17001,congenital_horner_syndrome,,,,,,,G90.2, 17002,isolated_ankyloblepharon_filiforme_adnatum,,,,,,,Q10.3, 17003,duplication_of_the_esophagus,,,,,,,Q39.8, 17004,pituitary_deficiency_due_to_empty_sella_turcica_syndrome,,,,,E23.0,,, 17005,secondary_ciliary_dyskinesia,,,,,,,J98.0,233669000 17006,congenital_esophageal_diverticulum,,,,,,,Q39.6, 17007,chronic_pneumonitis_of_infancy,,,,,,,J84.0, 17008,macular_coloboma_cleft_palate_hallux_valgus,,,,,,,Q87.8, 17009,isolated_congenital_alacrima,,,,,,,Q10.6, 17010,congenital_ectropion_uveae,,,,,,,Q10.1, 17011,isolated_congenital_sclerocornea,,,,,,,Q13.3, 17012,isolated_congenital_megalocornea,,,,,,,Q15.8, 17013,adenovirus_infection_in_immunocompromised_patients,,,,,,,B34.0, 17014,graft_rejection_after_lung_transplantation,,,,,,,T86.8, 17015,osteopenia_myopia_hearing_loss_intellectual_deficit_facial_dysmorphism,,,,,,,Q87.5, 17016,46xy_disorder_of_sex_development_due_to_isolated_17_20_lyase_deficiency,,,,,,,E29.1, 17017,autosomal_recessive_axonal_charcot_marie_tooth_disease_type_2,,,,,,,G60.0, 17018,non_functioning_pituitary_adenoma,,,,,,,D35.2, 17019,functioning_gonadotroph_adenoma,,,,,,,D35.2,254960002 17020,pituitary_dermoid_and_epidermoid_cysts,,,,,,,, 17021,pituitary_deficiency_due_to_rathkes_pouch_cysts,,,,,E23.6,,E23.0, 17022,choristoma,choristoma,,,,,,, 17023,monoclonal_ig_light_chain_associated_fanconi_syndrome,,,,,,,E72.0, 17024,mixed_cryoglobulinemia,,,,,,,D89.1, 17025,immunotactoid_or_fibrillary_glomerulopathy,,,,,,,N03.6, 17026,unclassified_juvenile_idiopathic_arthritis,,,,,,,M08.8, 17027,simple_cryoglobulinemia,,,,,,,D89.1, 17028,woolly_hair_nevus,woolly_hair_nevus,,,,,,D23.4,239124001 17029,familial_segmental_neurofibromatosis,,,,,,,Q85.0, 17030,late_onset_junctional_epidermolysis_bullosa,,,,,,,Q81.8, 17031,non_hereditary_congenital_primary_lymphedema,,,,,,,Q82.0, 17032,x_linked_lethal_multiple_pterygium_syndrome,,,,,,,Q79.8, 17033,cutaneous_mastocytoma,,,,,,D054705,Q82.2, 17034,cutis_verticis_gyrata_thyroid_aplasia_intellectual_deficit,,,,,,,, 17035,phakomatosis_cesioflammea,,,,,,,Q85.8, 17036,phakomatosis_cesiomarmorata,,,,,,,Q85.8, 17037,phakomatosis_spilorosea,,,,,,,Q85.8, 17038,pemphigus_vegetans,pemphigus_vegetans,,,,L10.1,,L10.1,238937005|81285006 17039,pemphigus_erythematosus,pemphigus_erythematosus,,,,L10.4,,L10.4,36739006 17040,microcystic_lymphatic_malformation,microcystic_lymphatic_malformation,,,,,,D18.1, 17041,pili_gemini,,,,,,,L67.8, 17042,macrocystic_lymphatic_malformation,macrocystic_lymphatic_malformation,,,,,,D18.1, 17043,verrucous_nevus,,,,,,,Q82.5, 17044,glycogen_storage_disease_due_to_glucose_6_phosphatase_deficiency_type_a,,,,,,,E74.0, 17045,mild_phenylketonuria,,,,,,,E70.1, 17046,chondrodysplasia_punctata_tibial_metacarpal_type,,,,,,,Q77.3, 17047,chondrodysplasia_punctata_toriello_type,,,,,,,Q77.3, 17048,singleton_merten_dysplasia,,,,,,,, 17049,metaphyseal_dysplasia_braun_tinschert_type,,,,,,,Q78.5, 17050,calvarial_doughnut_lesions_bone_fragility,,,,,,,M85.8, 17051,spondylo_ocular_syndrome,,,,,,,Q87.5, 17052,dysspondyloenchondromatosis,,,,,,,, 17053,ischio_vertebral_syndrome,,,,,,,, 17054,intellectual_deficit_x_linked_abidi_type,,,,,,C535556,, 17055,syndromic_x_linked_intellectual_deficit_7,,,,,,,, 17056,microphthalmia_ankyloblepharon_intellectual_deficit,,,,,,,Q11.2, 17057,intellectual_deficit_x_linked_armfield_type,,,,,,,, 17058,intellectual_deficit_x_linked_cantagrel_type,,,,,,,, 17059,intellectual_deficit_x_linked_cubitus_valgus_dysmorphism,,,,,,,, 17060,intellectual_deficit_x_linked_miles_carpenter_type,,,,,,C537472,, 17061,intellectual_deficit_x_linked_schimke_type,,,,,,C536630,, 17062,intellectual_deficit_x_linked_shashi_type,,,,,,,, 17063,intellectual_deficit_x_linked_siderius_type,,,,,,C537333,, 17064,intellectual_deficit_x_linked_vitale_type,,,,,,,, 17065,intellectual_deficit_x_linked_wittwer_type,,,,,,,, 17066,intellectual_deficit_x_linked_wilson_type,,,,,,,, 17067,intellectual_deficit_x_linked_hypogammaglobulinemia_progressive_neurological_deterioration,,,,,,,, 17068,intellectual_deficit_x_linked_choreoathetosis_abnormal_behavior,,,,,,,, 17069,deafness_intellectual_deficit_martin_probst_type,,,,,,,, 17070,intellectual_deficit_x_linked_macrocephaly_macro_orchidism,,,,,,,, 17071,intellectual_deficit_x_linked_epilepsy_progressive_joint_contractures_dysmorphism,,,,,,,, 17072,intellectual_deficit_x_linked_precocious_puberty_obesity,,,,,,,, 17073,intellectual_deficit_x_linked_stevenson_type,,,,,,,, 17074,intellectual_deficit_x_linked_shrimpton_type,,,,,,,, 17075,intellectual_deficit_x_linked_seemanova_type,,,,,,,, 17076,intellectual_deficit_x_linked_pai_type,,,,,,,, 17077,intellectual_deficit_x_linked_hypotonia_facial_dysmorphism_aggressive_behavior,,,,,,,, 17078,x_linked_intellectual_deficit_stoll_type,,,,,,,, 17079,intellectual_deficit_x_linked_acromegaly_hyperactivity,,,,,,,, 17080,intellectual_deficit_x_linked_retinitis_pigmentosa,,,,,,,, 17081,x_linked_intellectual_deficit_corpus_callosum_agenesis_spastic_quadriparesis,,,,,,,, 17082,intellectual_deficit_x_linked_hypogonadism_ichthyosis_obesity_short_stature,,,,,,,, 17083,x_linked_neurodegenerative_syndrome_hamel_type,,,,,,,, 17084,intellectual_deficit_x_linked_zorick_type,,,,,,,, 17085,x_linked_neurodegenerative_syndrome_bertini_type,,,,,,,, 17086,fried_syndrome,,,,,,,, 17087,oligoarticular_juvenile_arthritis,,,,,,,M08.4, 17088,x_linked_intellectual_deficit_ataxia_apraxia,,,,,,,, 17089,secondary_amyloidosis,,,,,,,E85.3,274945004|281034005 17090,juvenile_psoriatic_arthritis,,,,,,,L40.5+|M09.0*,239802003 17091,enthesitis_related_arthritis,,,,,,,M08.1, 17092,x_linked_reticulate_pigmentary_disorder_with_systemic_manifestations,,,,,,,E85.0+|L99.0*, 17093,benign_adult_familial_myoclonic_epilepsy,,,,,,,, 17094,atypical_lichen_myxedematosus,atypical_lichen_myxedematosus,,,,,,L98.5, 17095,lissencephaly_type_3_familial_fetal_akinesia_sequence,,,,,,,Q04.3, 17096,lissencephaly_type_3_metacarpal_bone_dysplasia,,,,,,,Q04.3, 17097,congenital_analbuminemia,,,,,,,R77.0, 17098,alport_syndrome_intellectual_deficit_midface_hypoplasia_elliptocytosis,,,,,,,Q87.8, 17099,acute_panmyelosis_with_myelofibrosis,acute_panmyelosis_with_myelofibrosis,,,,C94.4,,C94.5,109991003|80570006 17100,refractory_anemia_with_excess_blasts,refractory_anemia_with_excess_blasts,,,,,D000754,D46.2,128847002|398623004 17101,refractory_cytopenia_with_multilineage_dysplasia,refractory_cytopenia_with_multilineage_dysplasia,,,,,,D46.7,128836009|415285009 17102,unclassified_chronic_myeloproliferative_disease,,,,,,,D47.1, 17103,acute_basophilic_leukemia,acute_basophilic_leukemia,,,,,D015471,C94.7,69077002 17104,acute_myeloid_leukemia_with_multilineage_dysplasia,,,,,,,C92.0,128827005 17105,cd4_cd56_hematodermic_neoplasm,blastic_nk_cell_lymphoma,,,,C86.4,,C86.4, 17106,t_cell_prolymphocytic_leukemia,t-cell_prolymphocytic_leukemia,,,,C91.6,D015461,C91.3,128821006|277567002 17107,nodal_marginal_zone_b_cell_lymphoma,,,,,,,C85.1,397349003 17108,non_amyloid_monoclonal_immunoglobulin_deposition_disease,,,,,,,D89.8, 17109,angioimmunoblastic_t_cell_lymphoma,,,,,C86.5,,C84.4,413537009|835009 17110,nodular_lymphocyte_predominant_hodgkin_lymphoma,,,,,C81.0,,C81.1,118605002|277608004|70600005 17111,primary_cutaneous_unspecified_peripheral_t_cell_lymphoma,,,,,,D016411,C84.4,109977009|3172003 17112,hepatosplenic_t_cell_lymphoma,,,,,C86.1,,C84.4,445406001 17113,extranodal_nasal_nk_t_cell_lymphoma,,,,,C86|C86.0,D054391,C84.4,414166008 17114,hypotonia_failure_to_thrive_microcephaly,,,,,,,, 17115,deafness_onychodystrophy_autosomal_dominant,,,,,,,Q87.8, 17116,autosomal_recessive_deafness_onychodystrophy_syndrome,,,,,,,Q87.8, 17117,mild_hyperphenylalaninemia,,,,,,,E70.1, 17118,pseudotyphus_of_california,,,,,,,A79.8, 17119,solitary_bone_cyst,,,,,M85.4,,M85.4,203467005 17120,megalencephaly_polymicrogyria_post_axial_polydactyly_hydrocephalus,,,,,,,Q04.8, 17121,immunodeficiency_due_to_absence_of_thymus,,,,,D80|D80.5|D80.9|D82.2|D82.9|D84.8|D84.9,,D81.4, 17122,regional_odontodysplasia,regional_odontodysplasia,,,,,,K00.4,66063001 17123,vulvovaginal_gingival_syndrome,vulvovaginal_gingival_syndrome,,,,,,L43.8, 17124,macrostomia_preauricular_tags_external_ophthalmoplegia,,,,,,,Q87.0, 17125,pelvis_syndrome,,,,,,,Q87.8, 17126,rubella_panencephalitis,,,,,,,B06.0+|G05.1*, 17127,agammaglobulinemia_microcephaly_craniosynostosis_severe_dermatitis,,,,,,,D82.8, 17128,mycoplasma_encephalitis,,,,,,,B96.0, 17129,hinmans_syndrome,,,,,,,N32.8, 17130,collagen_type_iii_glomerulopathy,,,,,,,N07.6, 17131,syndromic_diarrhea,,,,,,,, 17132,leukoencephalopathy_metaphyseal_chondrodysplasia,,,,,,,G11.4, 17133,x_linked_recessive_intellectual_deficit_macrocephaly_ciliary_dysfunction,,,,,,,Q87.0, 17134,facial_onset_sensory_and_motor_neuronopathy,,,,,,,G60.0, 17135,sporadic_idiopathic_steroid_resistant_nephrotic_syndrome,,,,,,,N04, 17136,hereditary_thermosensitive_neuropathy,,,,,,,G60.0, 17137,unknown_leukodystrophy,,,,,,,E75.2, 17138,craniometadiaphyseal_dysplasia_wormian_bone_type,,,,,,,Q78.8, 17139,diaphyseal_medullary_stenosis_bone_malignancy,,,,,,C536169,M89.8,389216001 17140,infantile_osteopetrosis_with_neuroaxonal_dysplasia,,,,,,,Q78.2, 17141,microcephalic_osteodysplastic_dysplasia_saul_wilson_type,,,,,,,Q78.8, 17142,familial_digital_arthropathy_brachydactyly,,,,,,,M06.8, 17143,craniofacial_conodysplasia,,,,,,,Q87.5, 17144,grfoma,,,,,,,D13.7, 17145,pancreatic_endocrine_tumor,pancreatic_endocrine_tumor,,,,,,D13.7, 17146,ppoma,,,,,,,D13.7, 17147,thymic_endocrine_tumor,,,,,,,D38.4, 17148,familial_papillary_thyroid_carcinoma_with_renal_papillary_neoplasia,,,,,,,C73, 17149,bronchial_endocrine_tumor,,,,,,,D38.1, 17150,cardiogenic_shock,cardiogenic_shock,,,,R57.0,,, 17151,melanoma_of_soft_part,,,,,,,, 17152,dural_sinus_malformation,,,,,,,Q28.3, 17153,panner_disease,panner_disease,,,,,,M93.2, 17154,sinding_larsen_johansson_disease,,,,,,,M93.2,203389008 17155,persistent_placoid_maculopathy,,,,,,,, 17156,argyrophilic_grain_disease,argyrophilic_grain_disease,,,,,,G31.8, 17157,dementia_pugilistica,dementia_pugilistica,,,,,,, 17158,parkinsonism_with_dementia_of_guadeloupe,,,,,G22,,F02.3|G20, 17159,unilateral_renal_hypoplasia,,,,,,,Q60.3,204948009 17160,bilateral_renal_hypoplasia,,,,,Q60.3|Q60.4,,Q60.4,268232000 17161,unilateral_multicystic_renal_dysplasia,,,,,,D021782,Q61.4, 17162,multiloculated_renal_cyst,,,,,,,, 17163,renal_tubular_dysgenesis_due_to_twin_twin_transfusion,,,,,,,Q63.8, 17164,renal_tubular_dysgenesis_drugs_related,,,,,,,Q63.8, 17165,steroid_sensitive_nephrotic_syndrome_without_renal_biopsy,,,,,,,, 17166,sporadic_idiopathic_steroid_resistant_nephrotic_syndrome_with_collapsing_glomerulopathy,,,,,,,N04.8, 17167,chronic_proteinuria_with_focal_and_segmental_hyalinosis,,,,,,,, 17168,maternal_uniparental_disomy_of_chromosome_9,,,,,,,Q99.8, 17169,maternal_uniparental_disomy_of_chromosome_6,,,,,,,Q99.8, 17170,maternal_uniparental_disomy_of_chromosome_4,,,,,,,Q99.8, 17171,maternal_uniparental_disomy_of_chromosome_2,,,,,,,Q99.8, 17172,paternal_uniparental_disomy_of_chromosome_6,,,,,,,Q99.8, 17173,paternal_uniparental_disomy_of_chromosome_5,,,,,,,Q99.8, 17174,maternal_uniparental_disomy_of_chromosome_22,,,,,,,Q99.8, 17175,maternal_uniparental_disomy_of_chromosome_21,,,,,,,Q99.8, 17176,maternal_uniparental_disomy_of_chromosome_20,,,,,,,Q99.8, 17177,maternal_uniparental_disomy_of_chromosome_16,,,,,,,Q99.8, 17178,paternal_uniparental_disomy_of_chromosome_20,,,,,,,Q99.8, 17179,paternal_uniparental_disomy_of_chromosome_21,,,,,,,Q99.8, 17180,paternal_uniparental_disomy_of_chromosome_7,,,,,,,Q99.8, 17181,beckwith_wiedemann_syndrome_due_to_paternal_uniparental_disomy_of_chromosome_11,,,,,,,Q87.3, 17182,x_small_rings,,,,,,,Q99.8, 17183,polyploidy,polyploidy,,,,,D011123,Q92.7,72991005|48099008 17184,isolated_partial_vaginal_agenesis,,,,,Q52.0,,Q52.0, 17185,49xxxxy_syndrome,49_xxxxy_syndrome,,,,,,Q98.1,38847009 17186,48xxxy_syndrome,,,,,,,Q98.1,78317008 17187,isochromosome_y,,,,,,,Q98.6, 17188,early_onset_schizophrenia,,,,,,,, 17189,zebra_body_myopathy,,,,,,,G71.2,34513009 17190,solar_urticaria,solar_urticaria,,,,L56.3,,L56.3,10347006 17191,fingerprint_body_myopathy,,,,,,,G71.2, 17192,arterial_hypertension_due_to_renal_artery_stenosis_secondary_to_vasculitis,,,,,,,, 17193,neonatal_membranous_glomerulopathy_with_maternal_nep_deficiency,,,,,,,, 17194,congenital_renal_artery_stenosis,,,,,Q27.1,,Q27.1,271432005 17195,immunotactoid_glomerulopathy,,,,,,,N03.6, 17196,unclassified_glomerulonephritis,,,,,,,, 17197,pauci_immune_glomerulonephritis_without_anca,,,,,,,N05.7, 17198,nonamyloid_fibrillary_glomerulopathy,,,,,,,N03.6, 17199,pauci_immune_glomerulonephritis_with_anca,,,,,,,N05.7, 17200,peripheral_resistance_to_thyroid_hormones,,,,,,,E03.0, 17201,17q11_microdeletion_syndrome,,,,,,,Q85.0, 17202,isolated_micropenis,,,,,,,Q55.6, 17203,severe_hypospadias,,,,,,,Q54.2, 17204,congenital_adrenal_hypoplasia_of_maternal_cause,,,,,,,E27.1, 17205,congenital_hypothyroidism_due_to_transplacental_passage_of_maternal_tsh_binding_inhibitory_antibodies,,,,,E03.0|E03.1,,P72.2, 17206,familial_adrenal_hypoplasia_with_absent_pituitary_luteinizing_hormone,,,,,,,E27.1, 17207,nonclassic_congenital_adrenal_hyperplasia_due_to_21_hydroxylase_deficiency,,,,,,,E25.0, 17208,acquired_central_diabetes_insipidus,,,,,,,E23.2, 17209,metastatic_pituitary_hormone_deficiency,,,,,,,, 17210,congenital_anomaly_of_hepatic_vein,,,,,,,Q26.8, 17211,congenital_anomaly_of_the_coronary_sinus,,,,,,,Q21.1, 17212,congenital_central_diabetes_insipidus,,,,,,,, 17213,adenohypophysitis,,,,,,,E23.6, 17214,panhypophysitis,,,,,,,E23.6, 17215,congenital_coronary_artery_aneurysm,,,,,,,Q24.5, 17216,aneurysm_or_dilatation_of_ascending_aorta,,,,,,,Q25.4, 17217,atypical_arterial_duct,,,,,,,Q25.8, 17218,premature_closure_of_the_arterial_duct,,,,,,,Q25.8, 17219,pituitary_stalk_interruption_syndrome,,,,,,,E23.6, 17220,congenital_anomaly_of_the_inferior_vena_cava,,,,,,,Q26.8,81577001 17221,congenital_anomaly_of_superior_vena_cava,,,,,,,,70195006 17222,abnormal_origin_or_aberrant_course_of_coronary_artery,,,,,,,Q24.5, 17223,mesocardia,,,,,,,Q24.8,16567006 17224,aortic_valve_atresia,,,,,,,Q23.0, 17225,autosomal_recessive_cerebellar_ataxia_blindness_deafness,,,,,,,G11.1, 17226,autosomal_recessive_cerebellar_ataxia_saccadic_intrusion,,,,,,,G11.1, 17227,tricuspid_valve_agenesis,,,,,,,Q22.8, 17228,congenital_aortic_valve_insufficiency,,,,,Q23.1,,Q23.1,28656008 17229,accessory_tricuspid_valve_tissue,,,,,,,Q22.8, 17230,anomaly_of_the_tricuspid_subvalvular_apparatus,,,,,,,Q22.8, 17231,congenital_tricuspid_stenosis,,,,,Q22.4,,Q22.4,36233006 17232,straddling_or_overriding_tricuspid_valve,,,,,,,Q22.8, 17233,double_orifice_mitral_valve,,,,,,,Q23.8,253402005 17234,univentricular_cardiopathy,,,,,,,, 17235,cleft_mitral_valve,,,,,,,Q23.3, 17236,chronic_hepatic_porphyria,,,,,,,E80.2, 17237,secondary_short_bowel_syndrome,,,,,,,, 17238,chronic_pain_requiring_intraspinal_analgesia,,,,,,,, 17239,acute_adrenal_insufficiency,,,,,,,, 17240,mills_syndrome,,,,,,,, 17241,spondylocostal_dysostosis_anal_and_genitourinary_malformations,,,,,,,Q87.8, 17242,recessive_mitochondrial_ataxic_syndrome,,,,,,,G11.8, 17243,autosomal_dominant_cerebellar_ataxia_type_1,,,,,,,G11.8, 17244,autosomal_dominant_cerebellar_ataxia_type_3,,,,,,,G11.8, 17245,autosomal_dominant_cerebellar_ataxia_type_4,,,,,,,G11.8, 17246,anonychia_congenita_totalis,,,,,,,Q84.3, 17247,12q14_microdeletion_syndrome,,,,,,,Q93.5, 17248,severe_intellectual_deficit_epilepsy_anal_anomalies_distal_phalangeal_hypoplasia,,,,,,,Q87.8, 17249,severe_immune_mediated_enteropathy,,,,,,,, 17250,non_secreting_paraganglioma,,,,,,,, 17251,pachygyria_epilepsy_intellectual_deficit_dysmorphism,,,,,,,Q04.3, 17252,cytophagic_histiocytic_panniculitis,cytophagic_histiocytic_panniculitis,,,,,,M79.3,238883003 17253,monosomy_13q34,,,,,,,Q93.5, 17254,non_distal_monosomy_20q,,,,,,,Q93.5, 17255,non_distal_monosomy_12q,,,,,,,Q93.5, 17256,distal_monosomy_20q,,,,,,,Q93.5, 17257,distal_monosomy_14q,,,,,,,Q93.5, 17258,distal_monosomy_10q,,,,,,,Q93.5, 17259,distal_monosomy_12q,,,,,,,Q93.5, 17260,kleefstra_syndrome_due_to_9q34_microdeletion,,,,,,,Q87.0, 17261,distal_monosomy_4q,,,,,,,Q93.5, 17262,non_distal_monosomy_7p,,,,,,,Q93.5, 17263,distal_monosomy_19p133,,,,,,,Q93.5, 17264,distal_monosomy_6p,,,,,,,Q93.5, 17265,distal_monosomy_7p,,,,,,,Q93.5, 17266,7q1123_microduplication_syndrome,,,,,,,Q92.3, 17267,monosomy_22,,,,,,,Q93.0, 17268,non_distal_trisomy_9q,,,,,,,Q92.3, 17269,distal_trisomy_20q,,,,,,,Q92.3, 17270,distal_trisomy_16q,,,,,,,Q92.3, 17271,distal_trisomy_13q,,,,,,,Q92.3, 17272,distal_trisomy_22q,,,,,,,Q92.3, 17273,distal_trisomy_6q,,,,,,,Q92.3, 17274,distal_trisomy_5q,,,,,,,Q92.3, 17275,distal_trisomy_4q,,,,,,,Q92.3, 17276,distal_trisomy_11q,,,,,,C538294,Q92.3, 17277,distal_trisomy_10q,,,,,,C538087,Q92.3, 17278,distal_trisomy_9q,,,,,,,Q92.3, 17279,distal_trisomy_8q,,,,,,,Q92.3, 17280,distal_trisomy_2q,,,,,,,Q92.3, 17281,3q26_microduplication_syndrome,,,,,,,Q92.3, 17282,8p_inverted_duplication_deletion_syndrome,,,,,,,Q99.8, 17283,distal_trisomy_4p,,,,,,,Q92.3, 17284,distal_trisomy_7p,,,,,,,Q92.3, 17285,beckwith_wiedemann_syndrome_due_to_11p15_microduplication,,,,,,,Q87.3, 17286,16p133_microduplication_syndrome,,,,,,,Q92.3, 17287,distal_trisomy_1p36,,,,,,,Q92.3, 17288,distal_trisomy_3p,,,,,,,Q92.3, 17289,distal_trisomy_2p,,,,,,,Q92.3, 17290,mosaic_trisomy_4,,,,,,,Q92.1, 17291,mosaic_trisomy_5,,,,,,,Q92.1, 17292,idiopathic_congenital_hypothyroidism,,,,,,,E03.1, 17293,thyroid_pyramidal_lobe,,,,,,,, 17294,levocardia,levocardia,,,,,D007979,Q24.1,205769006 17295,tetrasomy_21,,,,,,,Q99.8, 17296,type_iii_mixed_cryoglobulinemia,,,,,,,D89.1, 17297,type_ii_mixed_cryoglobulinemia,,,,,,,D89.1, 17298,light_and_heavy_chain_deposition_disease,,,,,,,D89.8, 17299,heavy_chain_deposition_disease,,,,,,,D89.8, 17300,pediatric_systemic_lupus_erythematosus,,,,,,,M32, 17301,pediatric_polyarteritis_nodosa,,,,,,,M30.0, 17302,c3_deposition_glomerulonephritis_without_proliferation,,,,,,,, 17303,pediatric_sjogren_syndrome,,,,,,,M35.0, 17304,pediatric_systemic_sclerosis,,,,,,,M34.0, 17305,juvenile_sialidosis_type_2,,,,,,,E77.1, 17306,genochondromatosis_type_2,,,,,,,, 17307,congenital_sialidosis_type_2,,,,,,,E77.1, 17308,cinca_syndrome_with_cias1_mutations,,,,,,,G03.1, 17309,cinca_syndrome_without_cias1_mutations,,,,,,,G03.1, 17310,autosomal_dominant_focal_dystonia_dyt7_type,,,,,,,G24.1, 17311,blepharospasm_oromandibular_dystonia,,,,,,,G24.8, 17312,oromandibular_dystonia,oromandibular_dystonia,,,,,,G24.4,230328001 17313,truncal_dystonia,,,,,,,G24.8, 17314,uremic_pruritus,uremic_pruritus,,,,,,, 17315,coronary_artery_disease_hyperlipidemia_hypertension_diabetes_osteoporosis,,,,,,,, 17316,macrocephaly_immune_deficiency_anemia,,,,,,,D82.8, 17317,humeroulnar_synostosis,,,,,,,Q74.0,205330003 17318,anotia,anotia,,,,,C537772,Q16.0, 17319,epispadias,epispadias,,,,Q64.0,D004842,Q64.0,406476007|406477003 17320,lobar_holoprosencephaly,,,,,,,Q04.2,253136007 17321,alobar_holoprosencephaly,,,,,,,Q04.2,253137003 17322,x_linked_recessive_intellectual_deficit_epilepsy,,,,,,,, 17323,x_linked_dominant_intellectual_deficit_epilepsy,,,,,,,, 17324,x_linked_intellectual_deficit_sutherland_haan_type,,,,,,,, 17325,x_linked_intellectual_deficit_golabi_ito_hall_type,,,,,,,, 17326,x_linked_intellectual_deficit_porteous_type,,,,,,,, 17327,celosomia,,,,,,,Q76.7, 17328,laryngo_tracheo_esophageal_cleft_type_4,,,,,,,Q32.1, 17329,laryngo_tracheo_esophageal_cleft_type_3,,,,,,,Q32.1, 17330,laryngo_tracheo_esophageal_cleft_type_2,,,,,,,Q32.1, 17331,laryngo_tracheo_esophageal_cleft_type_1,,,,,,,Q32.1, 17332,terminal_transverse_defects_of_arm,,,,,,,Q79.8, 17333,adult_chronic_recurrent_multifocal_osteomyelitis,,,,,,,M86.3, 17334,pediatric_castleman_disease,,,,,,,D36.0, 17335,multicentric_castleman_disease,,,,,,C537372,D36.0, 17336,localized_castleman_disease,,,,,,,D36.0, 17337,alpha_1_antichymotrypsin_deficiency,alpha_1-antichymotrypsin,,,,,,E88.0,235909002 17338,interventricular_septum_aneurysm,,,,,,,Q21.0, 17339,laubry_pezzi_syndrome,,,,,Q21.0,,Q21.0, 17340,stenosis_or_atrophy_of_the_coronary_ostium,,,,,,,Q24.5, 17341,intramural_coronary_arterial_course,,,,,,,Q24.5,253715000 17342,abnormal_number_of_coronary_ostia,,,,,,,Q24.5, 17343,malposition_of_the_coronary_ostium,,,,,,,Q24.5, 17344,pulmonary_artery_hypoplasia,,,,,,,Q25.7, 17345,coronary_artery_intramyocardial_course,,,,,,,Q24.5, 17346,aorto_pulmonary_coronary_arterial_course,,,,,,,Q24.5, 17347,cervical_aorta_arch,,,,,,,Q25.4,253657003 17348,right_aortic_arch,,,,,,,Q25.4,111321007|244229003 17349,dysphagia_lusoria,dysphagia_lusoria,,,,,,Q25.4,231719009 17350,persistent_fifth_aortic_arch,,,,,,,Q25.4,253658008 17351,encircling_double_aortic_arch,,,,,,,Q25.4, 17352,kommerell_diverticulum,,,,,,,Q25.4,74561007 17353,congenital_patent_ductus_arteriosus_aneurysm,,,,,,,Q25.8, 17354,aorto_left_ventricular_tunnel,,,,,,,Q20.8,26201005 17355,complete_atrioventricular_canal_fallot_tetralogy,,,,,,,Q21.2, 17356,complete_atrioventricular_canal_ventricle_hypoplasia,,,,,,,Q21.2, 17357,aorto_right_ventricular_tunnel,,,,,,,Q20.8,253650001 17358,univentricular_heart_with_single_atrio_ventricular_valve,,,,,,,Q20.4, 17359,straddling_and_or_overriding_mitral_valve,,,,,,,Q23.8, 17360,shone_complex,,,,,,,Q23.8, 17361,complete_atrioventricular_canal_left_heart_obstruction,,,,,,,Q21.2, 17362,congenital_total_pulmonary_venous_return_anomaly,,,,,,,Q26.2, 17363,pulmonary_vein_atresia,,,,,,,Q26.8,204467000 17364,inferior_vena_cava_interruption,,,,,,,Q26.8, 17365,congenital_partial_pulmonary_venous_return_anomaly,,,,,,,Q26.3, 17366,azygos_continuation_of_the_inferior_vena_cava,,,,,,,Q26.8, 17367,congenital_stenosis_of_the_inferior_vena_cava,,,,,,,Q26.0,62335009 17368,right_inferior_vena_cava_connecting_to_left_sided_atrium,,,,,,,Q26.8, 17369,persistent_eustachian_valve,,,,,,,Q26.8, 17370,coronary_sinus_stenosis,,,,,,,Q21.1, 17371,coronary_sinus_atresia,,,,,,,Q21.1, 17372,subaortic_course_of_innominate_vein,,,,,,,Q26.8, 17373,agenesis_of_the_superior_vena_cava,,,,,,,Q26.8, 17374,left_superior_vena_cava_persisting_to_left_sided_atrium,,,,,,,Q26.1, 17375,absence_of_innominate_vein,,,,,,,Q26.8, 17376,right_superior_vena_cava_connecting_to_left_sided_atrium,,,,,,,Q26.8, 17377,persistent_left_superior_vena_cava_connecting_to_the_left_sided_atrium,,,,,,,Q26.1, 17378,atrial_septal_aneurysm,,,,,,,Q21.1,95440004 17379,ectasia_of_the_left_appendage,,,,,,,Q20.8, 17380,ectasia_of_the_right_atrial_appendage,,,,,,,Q20.8, 17381,juxtaposition_of_the_atrial_appendages,,,,,,,Q20.8, 17382,cor_triatriatum_sinister,,,,,,,Q24.2, 17383,cor_triatriatum_dexter,,,,,,,Q24.2, 17384,single_ventricular_septal_defect,,,,,,,Q21.0, 17385,multiple_ventricular_septal_defects,,,,,,,Q21.0,253550006 17386,gerbode_defect,,,,,,,Q21.0, 17387,hippocampal_tauopathy_in_cerebral_aging,,,,,,,, 17388,multiple_syringomas,,,,,,,, 17389,mandibulo_facial_dysostosis_lymphedema_syndrome,,,,,,,, 17390,platelet_function_disease_associated_with_renal_insufficiency,,,,,,,, 17391,6_phosphogluconate_dehydrogenase_deficiency,6-phosphogluconate_dehydrogenase_deficiency,,,,,,D55.1, 17392,hemolytic_anemia_due_to_erythrocyte_adenosine_deaminase_overproduction,,,,,,,D55.3, 17393,microcephaly_cutis_verticis_gyrata_lymphedema,,,,,,,, 17394,posterior_choanal_atresia_lymphedema_syndrome,,,,,,,, 17395,congenital_partial_agenesis_of_pericardium,,,,,,,Q24.8, 17396,congenital_complete_agenesis_of_pericardium,,,,,,,Q24.8, 17397,pleuro_pericardial_cyst,,,,,,,Q24.8, 17398,intermediate_stomatocytosis_syndrome,,,,,,,, 17399,48xyyy_syndrome,,,,,,,Q98.8, 17400,49xyyyy_syndrome,,,,,,,Q98.8, 17401,mosaic_monosomy_x,,,,,,,Q96.3|Q96.4, 17402,paternal_uniparental_disomy_of_chromosome_13,,,,,,,Q99.8, 17403,isolated_distichiasis,,,,,,,Q10.3, 17404,congenital_eyelid_retraction,,,,,,,, 17405,kandoris_fleck_retina,,,,,,,H35.5, 17406,tarsal_kink_syndrome,,,,,,,, 17407,epiblepharon,epiblepharon,,,,,,Q10.3,253212001 17408,euryblepharon,,,,,,,Q10.1,400954002 17409,isolated_congenital_ectropion,,,,,,,, 17410,familial_combined_hyperlipoproteinemia,,,,,,,, 17411,primary_dystonia_dyt2_type,,,,,,,G24.1, 17412,fibrocalculous_pancreatopathy,fibrocalculous_pancreatopathy,,,,,,, 17413,vestibular_torticollis,,,,,,,, 17414,atlantoaxial_subluxation,,,,,,,,45179004 17415,posterior_fossa_tumors,,,,,,,, 17416,spondyloepimetaphyseal_dysplasia_handigodu_type,,,,,,,Q77.7, 17417,turner_syndrome_due_to_structural_x_chromosome_anomalies,,,,,Q96|Q96.9,,Q96.1|Q96.2, 17418,cheiro_spondyloenchondromatosis,,,,,,,, 17419,non_progressive_congenital_heart_block,,,,,,,, 17420,generalized_epilepsy_and_praxis_induced_seizures,,,,,,,, 17421,metaphyseal_chondromatosis_with_d_2_hydroxyglutaric_aciduria,,,,,,,, 17422,dermotrichic_syndrome,,,,,,,, 17423,frieds_tooth_and_nails_syndrome,,,,,,,, 17424,leber_plus_disease,,,,,,,H47.2, 17425,sporadic_achalasia,,,,,,,K22.0, 17426,mesial_temporal_lobe_epilepsy_with_hippocampal_sclerosis,,,,,,,, 17427,obesity_hyperphagia_and_severe_developmental_delay_due_totrkb_gene_deficiency,,,,,,,, 17428,progeria_associated_arthropathy,,,,,,,, 17429,familial_partial_epilepsy_with_variable_focus,,,,,,,, 17430,benign_childhood_occipital_epilepsy_gastaut_type,,,,,,,G40.0, 17431,benign_childhood_occipital_epilepsy_panayiotopoulos_type,panayiotopoulos_syndrome,,,,,,G40.0, 17432,paroxysmal_hypnogenic_dyskinesia,,,,,,,G24.8, 17433,primary_dystonia_dyt13_type,,,,,,,G24.1, 17434,primary_mediastinal_large_b_cell_lymphoma,,,,,C85.2,,C83.3,128801005|444910004 17435,acute_undifferentiated_leukemia,,,,,,,C95.0, 17436,bilineal_acute_leukemia,,,,,,,C95.0,397346005 17437,acute_myeloid_leukemia_with_11q23_abnormalities,,,,,,,C92.6,128829008 17438,minimally_differentiated_acute_myeloblastic_leukemia,minimally_differentiated_acute_myeloblastic_leukemia,,,,,,C92.0, 17439,acute_myeloid_leukemia_with_abnormal_bone_marrow_eosinophils_inv_or_t,,,,,,,C92.7, 17440,unclassified_myelodysplastic_syndrome,,,,,,,D46.7, 17441,unclassified_myelodysplastic_myeloproliferative_disease,,,,,,,, 17442,refractory_anemia,,,,,,D000753,D46.7,109996008|128845005 17443,systemic_mastocytosis_with_an_associated_clonal_hematologic_non_mast_cell_lineage_disease,,,,,,,C96.2,397015000|397357000 17444,mixed_cellularity_classical_hodgkin_lymphoma,,,,,,,C81.2, 17445,lymphocyte_rich_classical_hodgkin_lymphoma,,,,,,D006689,C81.0,118607005|128799007 17446,intravascular_large_b_cell_lymphoma,,,,,,,C83.3,399648005 17447,common_hereditary_elliptocytosis,,,,,,,D58.1, 17448,homozygous_hereditary_elliptocytosis,,,,,,,D58.1, 17449,spherocytic_elliptocytosis,,,,,,,D58.1, 17450,bleeding_diathesis_due_to_integrin_alpha2_beta1_deficiency,,,,,,,D69.8, 17451,bleeding_diathesis_due_to_glycoprotein_vi_deficiency,,,,,,,D69.8, 17452,oculopharyngodistal_myopathy,,,,,,,G71.0, 17453,early_onset_x_linked_optic_atrophy,,,,,,,H47.2, 17454,x_linked_complex_spastic_paraplegia,,,,,,,G11.4, 17455,congenital_muscular_dystrophy_type_1b,,,,,,,G71.2, 17456,acute_motor_axonal_neuropathy,acute_motor_axonal_neuropathy,,,,,,G61.0, 17457,acute_motor_sensory_axonal_neuropathy,,,,,,,G61.0, 17458,multiple_system_atrophy_parkinsonian_type,,,,,,,G23.2, 17459,blakes_pouch_cyst,,,,,,,Q03.1, 17460,von_hippel_anomaly,,,,,,,Q13.4, 17461,complete_cryptophthalmia,,,,,,,Q11.2, 17462,partial_cryptophthalmia,,,,,,,Q11.2, 17463,congenital_symblepharon,,,,,,,Q11.2, 17464,coloboma_of_eyelid,,,,,,,Q10.3,95202004 17465,honey_droplet_corneal_dystrophy,,,,,,,H18.5, 17466,lisch_epithelial_corneal_dystrophy,lisch_epithelial_corneal_dystrophy,,,,,,H18.5, 17467,inverse_marcus_gunn_phenomenon,,,,,,,Q07.8, 17468,subepithelial_mucinous_corneal_dystrophy,subepithelial_mucinous_corneal_dystrophy,,,,,,H18.5, 17469,posterior_amorphous_corneal_dystrophy,posterior_amorphous_corneal_dystrophy,,,,,,H18.5, 17470,central_cloudy_dystrophy_of_francois,,,,,,,H18.5, 17471,essential_iris_atrophy,essential_iris_atrophy,,,,,,H21.2, 17472,congenital_hereditary_endothelial_dystrophy_i,,,,,,,H18.5, 17473,reticular_dystrophy_of_the_retinal_pigment_epithelium,,,,,,,H35.5, 17474,multifocal_pattern_dystrophy_simulating_fundus_flavimaculatus,,,,,,,H35.5, 17475,fundus_pulverulentus,,,,,,,H35.5, 17476,autosomal_recessive_optic_atrophy_opa6_type,,,,,,,H47.2, 17477,congenitally_uncorrected_transposition_of_the_great_arteries_with_coarctation,,,,,,,Q20.3, 17478,double_outlet_right_ventricle_fallot_type,,,,,,,Q20.1|Q21.3, 17479,double_outlet_right_ventricle_with_subaortic_ventricular_septal_defect,,,,,,,Q20.1,253298003 17480,double_outlet_right_ventricle_with_non_committed_subpulmonary_ventricular_septal_defect,,,,,,,Q20.1, 17481,pulmonary_valve_agenesis_ventricular_septal_defect_persistent_ductus_arteriosus,,,,,,,Q22.2, 17482,double_outlet_right_ventricle_with_doubly_committed_ventricular_septal_defect,,,,,Q20.1,,Q20.1,253300003 17483,pulmonary_artery_coming_from_patent_ductus_arteriosus,,,,,,,Q25.7, 17484,discrete_fibromuscular_subaortic_stenosis,,,,,,,Q24.4, 17485,discrete_fixed_membranous_subaortic_stenosis,,,,,,,Q24.4, 17486,tunnel_subaortic_stenosis,,,,,,,Q24.4, 17487,parachute_tricuspid_valve,,,,,,,Q22.8, 17488,anomaly_of_the_tricuspid_valve_chordae,,,,,,,Q22.8, 17489,hypoplasia_of_the_mitral_valve_annulus,,,,,,,Q23.2, 17490,congenital_unguarded_mitral_orifice,,,,,,,Q23.3, 17491,congenital_supravalvular_mitral_ring,,,,,,,Q23.2, 17492,mitral_valve_agenesis,,,,,,,Q23.3, 17493,accessory_mitral_valve_tissue,,,,,,,Q23.8, 17494,syndromic_orbital_border_hypoplasia,,,,,,,, 17495,rare_isolated_myopia,,,,,,,, 17496,essential_strabismus,,,,,,,, 17497,congenital_trochlear_nerve_palsy,,,,,,,H49.1, 17498,isochromosomy_yq,,,,,,,Q98.6, 17499,isochromosomy_yp,,,,,,,Q98.6, 17500,angelman_syndrome_due_to_paternal_uniparental_disomy_of_chromosome_15,,,,,,,Q93.5, 17501,angelman_syndrome_due_to_maternal_15q11q13_deletion,,,,,,,Q93.5, 17502,prader_willi_syndrome_due_to_paternal_15q11q13_deletion,,,,,,,Q87.1, 17503,alpha_thalassemia_intellectual_deficit_syndrome_linked_to_chromosome_16,,,,,,,D56.0,277918006 17504,primary_dystonia_dyt4_type,,,,,,,G24.1, 17505,spinocerebellar_ataxia_type_19_22,,,,,,C537198,G11, 17506,prader_willi_syndrome_due_to_maternal_uniparental_disomy_of_chromosome_15,,,,,,,Q87.1, 17507,myopathic_intestinal_pseudoobstruction,,,,,,,K59.8, 17508,small_bowel_adenocarcinoma,,,,,,,D01.4, 17509,undetermined_colitis,,,,,,,K52.3, 17510,autoimmune_enteropathy_type_3,,,,,,,K52.8, 17511,immunoproliferative_small_intestinal_disease,immunoproliferative_small_intestinal_disease,,,,C88.3,D007161,C88.3,109982002|109985000|123313007|27461004 17512,autoimmune_enteropathy_type_2,,,,,,,K52.8, 17513,congenital_enterocyte_heparan_sulfate_deficiency,,,,,,,P78.3, 17514,epithelio_exfoliative_colitis_deafness,,,,,,,P78.3, 17515,chronic_diarrhea_due_to_glucoamylase_deficiency,,,,,,,E74.3, 17516,acute_myeloid_leukemia_with_t_translocation,,,,,C92.6|C92.8,,, 17517,acute_myeloid_leukemia_and_myelodysplastic_syndromes_related_to_alkylating_agent,,,,,,,, 17518,acute_myeloid_leukemia_and_myelodysplastic_syndromes_related_to_topoisomerase_type_2_inhibitor,,,,,,,C92.0, 17519,unclassified_intestinal_pseudoobstruction,,,,,,,K59.8, 17520,hepatic_amyloidosis_with_intrahepatic_cholestasis,,,,,,,, 17521,anomaly_of_the_mitral_subvalvular_apparatus,,,,,,,Q23.8, 17522,familial_isolated_congenital_asplenia,,,,,,,Q89.0, 17523,lissencephaly_demyelinating_axonal_neuropathy,,,,,,,, 17524,non_secreting_chemodectoma,,,,,,,, 17525,pulmonary_valve_agenesis_fallots_tetralogy_absence_of_ductus_arteriosus,,,,,,,Q22.2, 17526,x_linked_charcot_marie_tooth_disease_type_3,,,,,,,G60.0, 17527,x_linked_charcot_marie_tooth_disease_type_4,,,,,,,G60.0, 17528,x_linked_charcot_marie_tooth_disease_type_2,,,,,,,G60.0, 17529,marin_amat_syndrome,,,,,,,Q07.8, 17530,aregenerative_anemia,,,,,,,D46.7,89112009 17531,microlissencephaly_type_b,,,,,,,Q04.3, 17532,aortic_valve_dysplasia,,,,,,,Q23.0,253604004 17533,unilateral_hemispheric_polymicrogyria,,,,,,,Q04.3, 17534,cleft_hard_palate,,,,,Q35.1|Q35.5|Q37.0|Q37.1,,Q35.1, 17535,autosomal_dominant_spastic_paraplegia_type_29,,,,,,C536863,G11.4, 17536,autosomal_recessive_spastic_paraplegia_type_30,,,,,,,G11.4, 17537,peters_anomaly_cataract,,,,,,C537885,Q15.8, 17538,zlotogura_martinez_syndrome,,,,,,,, 17539,sub_cortical_nodular_heterotopia,,,,,,,Q04.8, 17540,autosomal_recessive_pure_spastic_paraplegia,,,,,,,G11.4, 17541,autosomal_recessive_complex_spastic_paraplegia,,,,,,,G11.4, 17542,autosomal_dominant_spastic_paraplegia_type_9,,,,,,C536868,G11.4, 17543,autosomal_dominant_spastic_paraplegia_type_19,,,,,,C536856,G11.4, 17544,x_linked_spastic_paraplegia_type_16,,,,,,C536643,G11.4, 17545,autosomal_recessive_spastic_paraplegia_type_14,,,,,,C537486,G11.4, 17546,autosomal_dominant_spastic_paraplegia_type_12,,,,,,C537484,G11.4, 17547,autosomal_recessive_spastic_paraplegia_type_27,,,,,,,G11.4, 17548,autosomal_recessive_spastic_paraplegia_type_28,,,,,,,G11.4, 17549,autosomal_recessive_spastic_paraplegia_type_25,,,,,,C536861,G11.4, 17550,autosomal_recessive_spastic_paraplegia_type_26,,,,,,C536862,G11.4, 17551,autosomal_recessive_spastic_paraplegia_type_24,,,,,,,G11.4, 17552,hepatic_endocrine_tumor,,,,,,,, 17553,middle_ear_endocrine_tumor,,,,,,,, 17554,gall_bladder_endocrine_tumor,,,,,,,, 17555,fraxf_syndrome,,,,,,,, 17556,renin_angiotensin_aldosterone_system_blocker_induced_angioedema,,,,,,,T78.3, 17557,acquired_angioedema_type_1,,,,,,,T78.3, 17558,acquired_angioedema_type_2,,,,,,,T78.3, 17559,true_neurogenic_thoracic_outlet_syndrome,,,,,,,G54.0, 17560,gastric_endocrine_tumor,,,,,,,, 17561,mosaic_trisomy_3,,,,,,,Q92.1, 17562,true_vascular_thoracic_outlet_syndrome,,,,,,,G54.0, 17563,ileal_endocrine_tumor,,,,,,,, 17564,endocrine_tumor_of_the_appendix,,,,,,,, 17565,duodenal_endocrine_tumor,,,,,,,, 17566,jejunal_endocrine_tumor,,,,,,,, 17567,anal_endocrine_tumor,,,,,,,, 17568,laryngeal_endocrine_tumor,,,,,,,, 17569,colon_endocrine_tumor,,,,,,,, 17570,rectal_endocrine_tumor,,,,,,,, 17571,refractory_anemia_with_excess_blasts_2,,,,,,,D46.2,415284008|397339001 17572,refractory_anemia_with_excess_blasts_1,,,,,D46.0|D46.1|D46.2|D46.5,,D46.2,397338009|415283002 17573,extramedullary_soft_tissue_plasmacytoma,,,,,,,C90.2, 17574,primary_plasmacytoma_of_the_bone,,,,,,,C90.2, 17575,alpha_heavy_chain_disease,,,,,,,C88.3,109982002 17576,solitary_necrotic_tumor_of_the_liver,,,,,,,, 17577,familial_pseudohyperkalemia_type_1,,,,,,,D58.8, 17578,familial_pseudohyperkalemia_type_2,,,,,,,D58.8, 17579,familial_pseudohyperkalemia_cardiff_type,,,,,,,D58.8, 17580,autosomal_dominant_intermediate_charcot_marie_tooth_disease_type_a,,,,,,,G60.0, 17581,esophageal_duplication_cyst,,,,,,,Q39.8, 17582,tubular_duplication_of_the_esophagus,,,,,,,Q39.8, 17583,primary_interstitial_lung_disease_specific_to_childhood_due_to_pulmonary_surfactant_protein_anomalies,,,,,,,, 17584,lissencephaly_with_cerebellar_hypoplasia_type_f,,,,,,,Q04.3, 17585,lissencephaly_with_cerebellar_hypoplasia_type_e,,,,,,,Q04.3, 17586,lissencephaly_with_cerebellar_hypoplasia_type_b,,,,,,,Q04.3, 17587,lissencephaly_with_cerebellar_hypoplasia_type_a,,,,,,,Q04.3, 17588,lissencephaly_with_cerebellar_hypoplasia_type_d,,,,,,,Q04.3, 17589,lissencephaly_with_cerebellar_hypoplasia_type_c,,,,,,,Q04.3, 17590,hereditary_amyloid_precursor_protein_angiopathy,,,,,,,, 17591,reticular_perineurioma,,,,,,,, 17592,sclerosing_perineurioma,,,,,,,, 17593,extraneural_perineurioma,,,,,,,, 17594,complex_regional_pain_syndrome_type_1,,,,,,,M89.0, 17595,relapsing_epidemic_thyphus,,,,,,,A75.0, 17596,intermediate_dend_syndrome,,,,,,,, 17597,familial_restrictive_cardiomyopathy_type_2,,,,,,,I42.5, 17598,esophageal_adenocarcinoma,esophageal_adenocarcinoma,,,,,,C15, 17599,dedifferentiated_liposarcoma,,,,,,,C49,404072004|67280001 17600,autosomal_dominant_charcot_marie_tooth_disease_type_2g,,,,,,,G60.0, 17601,heiner_syndrome,,,,,,,E83.1+|J99.8*, 17602,pleuro_pulmonary_blastoma_type_i,,,,,,,C34, 17603,pleuro_pulmonary_blastoma_type_ii,,,,,,,C34, 17604,pleuro_pulmonary_blastoma_type_iii,,,,,,,C34, 17605,invasive_mole,invasive_mole,,,,,,D39.2, 17606,secondary_pulmonary_hemosiderosis,,,,,,,E83.1+|J99.8*, 17607,streptococcal_toxic_shock_syndrome,,,,,,,A48.3,240451000 17608,theca_steroid_producing_cell_malignant_tumor_not_further_specified,,,,,,,C56, 17609,ovarian_malignant_sertoli_leydig_cell_tumor,,,,,,,C56, 17610,granulosa_cell_malignant_tumor,,,,,,D006106,C56,18861007 17611,occupational_allergic_alveolitis,,,,,,,, 17612,house_allergic_alveolitis,,,,,,,J67.8, 17613,malignant_dysgerminomatous_germ_cell_tumor,,,,,,,C56, 17614,streptobacillary_rat_bite_fever,,,,,,,A25.1, 17615,spirillary_rat_bite_fever,,,,,,,A25.0, 17616,mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_ifngammar1_deficiency,,,,,,C535530,A31.9, 17617,primary_parathyroids_hyperplasia,,,,,,,E21.0, 17618,acute_megakaryoblastic_leukemia_in_down_syndrome,,,,,,,C94.2, 17619,cushing_syndrome_due_to_ectopic_acth_secretion,,,,,E24|E24.9,,E24.3, 17620,classic_seminoma,,,,,,,C62, 17621,metastatic_spermatocytic_seminoma,,,,,,,C62, 17622,post_traumatic_syringomyelia,,,,,,,G95.0,372477008 17623,adult_pulmonary_langerhans_cell_histiocytosis,,,,,,,D76.0, 17624,thymic_neuroendocrine_carcinoma,,,,,,,C37, 17625,autosomal_dominant_myoglobinuria,,,,,,,R82.1, 17626,secondary_syringomyelia,,,,,,,G95.0, 17627,idiopathic_syringomyelia,,,,,,,G95.0, 17628,primary_syringomyelia,,,,,,,G95.0, 17629,ravine_syndrome,,,,,,,E75.2, 17630,resistance_to_thyrotropin_releasing_hormone_syndrome,,,,,,,E03.1, 17631,nipah_virus_disease,nipah_virus,,,,,,A98.8, 17632,oculootodental_syndrome,,,,,,,K00.2, 17633,peho_like_syndrome,,,,,,,, 17634,familial_articular_chondrocalcinosis_type_1,,,,,,,M11.1, 17635,familial_articular_chondrocalcinosis_type_2,,,,,,,M11.1, 17636,familial_hyperreninemic_hypoaldosteronism_type_2,,,,,,,E27.4, 17637,cleft_velum,,,,,Q35.3|Q37.2|Q37.3,,Q35.3, 17638,bifid_uvula,bifid_uvula,,,,,,Q35.7, 17639,delayed_sleep_phase_syndrome,,,,,,,, 17640,cholestasis_of_pregnancy_intrahepatic_3,,,,,,,, 17641,microphthalmia_isolated_with_coloboma_7,,,,,,,, 17642,arterial_calcification_of_infancy_generalized_2,,,,,,,, 17643,methylmalonic_aciduria_and_homocystinuria_type_cblj,,,,,,,, 17644,knobloch_syndrome_2,,,,,,,, 17645,aicardi_goutieres_syndrome_6,,,,,,,, 17646,familial_dysalbuminemic_hyperthyroxinemia,familial_dysalbuminemic_hyperthyroxinemia,,,,,,, 17647,microphthalmia_isolated_8,,,,,,,, 17648,ichthyosis_congenital_autosomal_recessive_3,,,,,,,, 17649,adenosine_monophosphate_deaminase_deficiency_muscle_type,,,,,,,, 17650,hypotrichosis_1,,,,,,,, 17651,familial_hypobetalipoproteinemia_1,,,,,,,, 17652,hyperalphalipoproteinemia_2,,,,,,,, 17653,mental_retardation_x_linked_arx_related,,,,,,,, 17654,hereditary_sensory_neuropathy_1d,,,,,,,, 17655,osteogenesis_imperfecta_13,,,,,,,, 17656,complement_component_c1q_deficiency,,,,,,,, 17657,complement_component_9_deficiency,complement_component_9,,,,,,, 17658,cardiomyopathy_familial_hypertrophic_19,,,,,,,, 17659,psoriasis_2,,,,,,,, 17660,myopathy_distal_tateyama_type,,,,,,,, 17661,primary_ciliary_dyskinesia_17,,,,,,,, 17662,deafness_autosomal_dominant_4b,,,,,,,, 17663,microcephaly_primary_9,,,,,,,, 17664,amyotrophic_lateral_sclerosis_17,,,,,,,, 17665,usher_syndrome_1j,,,,,,,, 17666,deafness_autosomal_recessive_48,,,,,,,, 17667,deafness_autosomal_recessive_29_2,,,,,,,, 17668,retinitis_pigmentosa_49_2,,,,,,,, 17669,hypomagnesemia_6,,,,,,,, 17670,congenital_disorder_of_glycosylation_2l,,,,,,,, 17671,pre_eclampsia_eclampsia_5,,,,,,,, 17672,familial_febrile_convulsions_11,,,,,,,, 17673,adrenal_insufficiency_congenital_with_46xy_sex_reversal,,,,,,,, 17674,congenital_disorder_of_glycosylation_1r,,,,,,,, 17675,deafness_autosomal_dominant_64,,,,,,,, 17676,primary_ciliary_dyskinesia_2,,,,,,,, 17677,primary_ciliary_dyskinesia_16,,,,,,,, 17678,myasthenic_syndrome_congenital_with_tubular_aggregates_2,,,,,,,, 17679,short_rib_polydactyly_syndrome_2b,,,,,,,, 17680,hirschsprung_disease_cardiac_defects_and_autonomic_dysfunction_2,,,,,,,, 17681,ectodermal_dysplasia_11b_hypohidrotic_hair_tooth_type_autosomal_recessive,,,,,,,, 17682,ectodermal_dysplasia_11a_hypohidrotic_hair_nail_type_autosomal_dominant,,,,,,,, 17683,parkinson_disease_18,,,,,,,, 17684,prostate_cancer_hereditary_2,,,,,,,, 17685,uv_sensitive_syndrome_2_2,,,,,,,, 17686,trigonocephaly_2,,,,,,,, 17687,tremor_hereditary_essential_4,,,,,,,, 17688,chronic_non_spherocytic_hemolytic_anemia,,,,,,,, 17689,atrial_septal_defect_9,,,,,,,, 17690,cardiomyopathy_dilated_2b,,,,,,,, 17691,transposition_of_the_great_arteries_dextro_looped_3,,,,,,,, 17692,myasthenic_syndrome_congenital_with_tubular_aggregates_1,,,,,,,, 17693,deafness_autosomal_recessive_15,,,,,,,, 17694,hyperekplexia_2,,,,,,,, 17695,gnas_hyperfunction,,,,,,,, 17696,night_blindness_congenital_stationary_1e,,,,,,,, 17697,muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_a8,,,,,,,, 17698,usher_syndrome_3b,,,,,,,, 17699,mental_retardation_x_linked_3,,,,,,,, 17700,cornelia_de_lange_syndrome_5,,,,,,,, 17701,primary_ciliary_dyskinesia_18,,,,,,,, 17702,leukoencephalopathy_megalencephalic_with_subcortical_cysts_2b,,,,,,,, 17703,hypogonadotropic_hypogonadism_15_with_or_without_anosmia,,,,,,,, 17704,retinitis_pigmentosa_46_2,,,,,,,, 17705,amyloidosis_primary_localized_cutaneous_2,,,,,,,, 17706,deafness_autosomal_recessive_42,,,,,,,, 17707,hyperproinsulinemia_familial,,,,,,,, 17708,muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_a7,,,,,,,, 17709,inosine_triphosphate_pyrophosphohydrolase_deficiency,,,,,,,, 17710,thrombocythemia_3,,,,,,,, 17711,cardiomyopathy_familial_hypertrophic_17,,,,,,,, 17712,hypogonadotropic_hypogonadism_1_with_or_without_anosmia,,,,,,,, 17713,epilepsy_nocturnal_frontal_lobe_5,,,,,,,, 17714,epileptic_encephalopathy_early_infantile_14,,,,,,,, 17715,hydrolethalus_syndrome_2,,,,,,,, 17716,hypogonadotropic_hypogonadism_8_with_or_without_anosmia,,,,,,,, 17717,spermatogenic_failure_11,,,,,,,, 17718,hypotrichosis_3,,,,,,,, 17719,left_right_axis_malformations,,,,,,,, 17720,hypogonadism_lhb_related,,,,,,,, 17721,pyruvate_dehydrogenase_lipoic_acid_synthetase_deficiency,,,,,,,, 17722,immunodeficiency_common_variable_8_with_autoimmunity,,,,,,,, 17723,sclerosteosis_2,,,,,,,, 17724,high_bone_mass_trait,,,,,,,, 17725,primary_ciliary_dyskinesia_19,,,,,,,, 17726,cataract_congenital_cerulean_type_4,,,,,,,, 17727,mental_retardation_autosomal_recessive_15,,,,,,,, 17728,46xy_sex_reversal_6,,,,,,,, 17729,mental_retardation_autosomal_recessive_18,,,,,,,, 17730,carpenter_syndrome_2,,,,,,,, 17731,mitochondrial_dna_depletion_syndrome_11,,,,,,,, 17732,left_ventricular_non_compaction_7,,,,,,,, 17733,hereditary_non_polyposis_colorectal_cancer_7,,,,,,,, 17734,narcolepsy_7,,,,,,,, 17735,mitochondrial_pyruvate_carrier_deficiency,,,,,,,, 17736,thrombocythemia_2,,,,,,,, 17737,hereditary_non_polyposis_colorectal_cancer_5,,,,,,,, 17738,mitochondrial_complex_v_deficiency_mitochondrial_1,,,,,,,, 17739,mitochondrial_infantile_bilateral_striatal_necrosis,,,,,,,, 17740,mitochondrial_complex_v_deficiency_mitochondrial_2,,,,,,,, 17741,alzheimer_disease_mitochondrial,,,,,,,, 17742,peripheral_neuropathy_myopathy_hoarseness_and_hearing_loss,,,,,,,, 17743,sick_sinus_syndrome_3,,,,,,,, 17744,focal_segmental_glomerulosclerosis_6,,,,,,,, 17745,cardiomyopathy_familial_hypertrophic_16,,,,,,,, 17746,short_stature_optic_nerve_atrophy_and_pelger_huet_anomaly,,,,,,,, 17747,cardiomyopathy_familial_hypertrophic_20,,,,,,,, 17748,sotos_syndrome_2,,,,,,,, 17749,dyskeratosis_congenita_autosomal_recessive_2,,,,,,,, 17750,hypoplastic_left_heart_syndrome_2,,,,,,,, 17751,glucocorticoid_deficiency_4,,,,,,,, 17752,adrenocortical_insufficiency_without_ovarian_defect_2,,,,,E27.1,,, 17753,retinitis_pigmentosa_27_2,,,,,,,, 17754,retinal_degeneration_autosomal_recessive_clumped_pigment_type_2,,,,,,,, 17755,obesity_hyperphagia_and_developmental_delay_2,,,,,,,, 17756,deafness_autosomal_recessive_18b,,,,,,,, 17757,retinitis_pigmentosa_43_2,,,,,,,, 17758,retinitis_pigmentosa_40_2,,,,,,,, 17759,primary_pigmented_nodular_adrenocortical_disease_3,,,,,,,, 17760,coenzyme_q10_deficiency_primary_3,,,,,,,, 17761,peroxisome_biogenesis_disorder_6b,,,,,,,, 17762,peroxisome_biogenesis_disorder_complementation_group_3,,,,,,,, 17763,peroxisome_biogenesis_disorder_1b,,,,,,,, 17764,peroxisome_biogenesis_disorder_7a,,,,,,,, 17765,peroxisome_biogenesis_disorder_5b,,,,,,,, 17766,peroxisome_biogenesis_disorder_10a,,,,,,,, 17767,peroxisome_biogenesis_disorder_complementation_group_4,,,,,,,, 17768,peroxisome_biogenesis_disorder_9b,,,,,,,, 17769,phosphohydroxylysinuria,,,,,,,, 17770,fleck_retina_familial_benign,,,,,,,, 17771,platelet_activating_factor_acetylhydrolase_deficiency,,,,,,,, 17772,ichthyosis_congenital_autosomal_recessive_10,,,,,,,, 17773,deafness_autosomal_recessive_70,,,,,,,, 17774,colorectal_cancer_10,,,,,,,, 17775,colorectal_cancer_12,,,,,,,, 17776,thrombophilia_due_to_protein_s_deficiency_autosomal_recessive,,,,,D68.5,,, 17777,microphthalmia_isolated_6,,,,,,,, 17778,childhood_cancer_retinoblastoma,,,,,,,, 17779,retinal_dystrophy_iris_coloboma_and_comedogenic_acne_syndrome,,,,,,,, 17780,retinitis_pigmentosa_44_2,,,,,,,, 17781,ataxia_sensory_1_autosomal_dominant,,,,,,,, 17782,autism_x_linked_5,,,,,,,, 17783,retinoschisis_juvenile_x_linked_1,,,,,,,, 17784,chilblain_lupus_2,,,,,,,, 17785,myasthenic_syndrome_congenital_acetazolamide_responsive,,,,,,,, 17786,generalized_epilepsy_with_febrile_seizures_plus_7,,,,,,,, 17787,hypogonadotropic_hypogonadism_16_with_or_without_anosmia,,,,,,,, 17788,pontocerebellar_hypoplasia_2d,,,,,,,, 17789,spermatogenic_failure_10,,,,,,,, 17790,thyroxine_binding_globulin_deficiency,thyroxine-binding_globulin,,,,,,, 17791,schizophrenia_15,,,,,,,, 17792,amyotrophic_lateral_sclerosis_16_juvenile,,,,,,,, 17793,combined_d_2_and_l_2_hydroxyglutaric_aciduria,,,,,,,, 17794,epilepsy_idiopathic_generalized_12,,,,,,,, 17795,zinc_deficiency_transient_neonatal,,,,,,,, 17796,brown_vialetto_van_laere_syndrome_2,,,,,,,, 17797,hyperekplexia_3,,,,,,,, 17798,hypertrophic_osteoarthropathy_primary_autosomal_recessive_2,,,,,,,, 17799,aortic_valve_disease_2,,,,,,,, 17800,mental_retardation_autosomal_dominant_16,,,,,,,, 17801,mental_retardation_autosomal_dominant_15,,,,,,,, 17802,psychomotor_retardation_epilepsy_and_craniofacial_dysmorphism,,,,,,,, 17803,osteopetrosis_autosomal_recessive_8,,,,,,,, 17804,epileptic_encephalopathy_early_infantile_15,,,,,,,, 17805,familial_candidiasis_7,,,,,,,, 17806,pre_eclampsia_eclampsia_4,,,,,,,, 17807,congenital_heart_disease_multiple_types_2,,,,,,,, 17808,hypogonadotropic_hypogonadism_10_with_or_without_anosmia,,,,,,,, 17809,hypogonadotropic_hypogonadism_11_with_or_without_anosmia,,,,,,,, 17810,joubert_syndrome_18,,,,,,,, 17811,mental_retardation_autosomal_recessive_14,,,,,,,, 17812,hereditary_non_polyposis_colorectal_cancer_6,,,,,,,, 17813,herpes_simplex_encephalitis_4,,,,,,,, 17814,congenital_disorder_of_glycosylation_2k,,,,,,,, 17815,joubert_syndrome_20,,,,,,,, 17816,psoriasis_13,,,,,,,, 17817,herpes_simplex_encephalitis_3,,,,,,,, 17818,mitochondrial_complex_iii_deficiency_nuclear_4,,,,,,,, 17819,microphthalmia_syndromic_11,,,,,,,, 17820,parkinson_disease_17,,,,,,,, 17821,craniofacial_anomalies_and_anterior_segment_dysgenesis_syndrome,,,,,,,, 17822,hypogonadotropic_hypogonadism_14_with_or_without_anosmia,,,,,,,, 17823,nephronophthisis_13,,,,,,,, 17824,microcephaly_primary_2,,,,,,,, 17825,cerebellar_ataxia_mental_retardation_and_dysequilibrium_syndrome_2,,,,,,,, 17826,osteogenesis_imperfecta_15,,,,,,,, 17827,immunodeficiency_centromeric_instability_facial_anomalies_syndrome_2,,,,,,,, 17828,joubert_syndrome_19,,,,,,,, 17829,myopia_21,,,,,,,, 17830,critical_limb_ischemia_with_alias_cli,,,,,,,, 17831,scar_contracture,,,,,,,, 17832,burn_scar,,,,,,,, 17833,fecal_incontinence,,,,,,,, 17834,peri_anal_fistula_crohns_fistula_,,,,,,,, 17835,depressed_scar,,,,,,,, 17836,burns,,,,,,,, 17837,breast_reconstruction,,,,,,,, 17838,autoimmune_related_retinopathy_and_optic_neuropathy_arron,,,,,,,, 17839,ocular_surface_burns,,,,,,,, 17840,hypertrophic_cardiomyopathy_midventricular_digenic,,,,,,,,