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://wiki.riteme.site/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,,,,,,,,